WorldWideScience

Sample records for cardiomyopathy clinical features

  1. Clinical features of Noncompaction Cardiomyopathy

    K. Caliskan (Kadir)

    2012-01-01

    textabstractNoncompaction cardiomyopathy (NCCM) is recognized as a separate disease entity since the first report in 1984 of a rare case with persistent myocardial sinusoids and a series of 8 pediatric and adolescent patients in 1990 with increased trabeculation of the left ventricular endocardium.

  2. Sress cardiomyopathy: clinical features and imaging findings

    Zhao Shihua; Yan Chaowu; Jiang Shiliang; Lu Minjie; Li Shiguo; Liu Qiong; He Zuoxiang

    2007-01-01

    Objective: One typical case with stress cardiomyopathy was reported and the current knowledge of the syndrome was reviewed to improve relevant knowledge. Methods: A 71-year-old female patient presented dyspnea and chest pain due to emotional stress. ECG, echocardiography, selective coronary, artery angiography, left ventriculography, 99 Tc m -MIBI single photon emission computed tomography (SPECT), 18 F-FDG SPECT and MRI were performed. Results: Electrocardiogram at admission showed ST segment elevation and T wave inversion in leads V1-V4. Pathological Q wave occurred 1 week later, it disappeared 1 month later however and severe T wave inversion occurred. Normal or slightly elevated cardiac enzymes in the blood were found during the course. Left ventriculogram at admission showed left ventricular apical ballooning with LVEF of 30%. The ballooning volume was about 3/4 of left ventricular volume, without any corresponding coronary artery diseases found in coronary angiogram. The abnormal apical ballooning decreased significantly in the follow-up left ventficulogram performed one month later. The LVEF rose up to 63.6%. 99 Tc m -MIBI and 18 F-FDG SPECT showed mismatch of perfusion and metabolism in the corresponding region, indicating presence of viable myocardium. MRI showed left ventricular apical ballooning without perfusion defect and late enhancement, indicating viability of corresponding myocardium. Conclusions: Emotional stress can cause transient left ventricular apical ballooning called 'stress cardiomyopathy'. Either 99 Tc m -MIBI SPECT associated with 18 F-FDG SPECT or delayed enhancement MRI plays an important role in identification of myocardial viability, which can efficiently guide clinical treatment. (authors)

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

    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

  4. Clinical Features and Echocardiographic Findings in Children with Hypertrophic Cardiomyopathy

    Cristina Blesneac

    2013-12-01

    Full Text Available Background: Hypertrophic cardiomyopathy, one of the most common inherited cardiomyopathies, is a heterogeneous disease resulting from sarcomeric protein mutations, with an incidence in the adult population of 1:500. Current information on the epidemiology and outcomes of this disease in children is limited. Methods: Thirty-four children diagnosed with hypertrophic cardiomyopathy in the Pediatric Cardiology Department from Tîrgu Mureș were evaluated concerning familial and personal history, clinical, paraclinical and therapeutic aspects. Hypertrophic cardiomyopathy was defined by the presence of a hypertrophied, non-dilated ventricle, in the absence of a cardiac or systemic disease that could produce ventricular hypertrophy. Results: The youngest diagnosed child was a neonate, a total of 10 patients being diagnosed until 1 year of age. In 6 cases a positive familial history was found. Noonan syndrome was found in 2 cases. Only 21 patients were symptomatic, the predominant symptoms being shortness of breath on exertion with exercise limitations. Left ventricular outflow tract obstruction was present in 21 cases (61.7%. Twenty-four patients were on β-blocking therapy, while 4 patients underwent septal myectomy. Conclusions: Hypertrophic cardiomyopathy is a heterogeneous disorder in terms of evolution, age of onset, type and extent of hypertrophy, and the risk of sudden death. It can affect children of any age. There is a need for a complex evaluation, including familial and personal anamnesis, clinical examination, electrocardiogram and echocardiography of all patients. It is highly important to develop screening strategies, including genetic testing, for an early diagnosis, especially in asymptomatic patients with a positive familial background

  5. Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy

    Lakdawala, Neal K; Thune, Jens Jakob; Maron, Barry J

    2011-01-01

    In hypertrophic cardiomyopathy (HC), electrocardiographic (ECG) changes have been postulated to be an early marker of disease, detectable in sarcomere mutation carriers when left ventricular (LV) wall thickness is still normal. However, the ECG features of mutation carriers have not been fully...

  6. Hypertrophic Cardiomyopathy: Clinical Update.

    Geske, Jeffrey B; Ommen, Steve R; Gersh, Bernard J

    2018-05-01

    Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, manifesting as left ventricular hypertrophy in the absence of a secondary cause. The genetic underpinnings of HCM arise largely from mutations of sarcomeric proteins; however, the specific underlying mutation often remains undetermined. Patient presentation is phenotypically diverse, ranging from asymptomatic to heart failure or sudden cardiac death. Left ventricular hypertrophy and abnormal ventricular configuration result in dynamic left ventricular outflow obstruction in most patients. The goal of therapeutic interventions is largely to reduce dynamic obstruction, with treatment modalities spanning lifestyle modifications, pharmacotherapies, and septal reduction therapies. A small subset of patients with HCM will experience sudden cardiac death, and risk stratification remains a clinical challenge. This paper presents a clinical update for diagnosis, family screening, clinical imaging, risk stratification, and management of symptoms in patients with HCM. Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  7. Clinical, Radiographic, and Microbiologic Features of Infective Endocarditis in Patients With Hypertrophic Cardiomyopathy.

    Sims, Jason R; Anavekar, Nandan S; Bhatia, Subir; O'Horo, John C; Geske, Jeffrey B; Chandrasekaran, Krishnaswamy; Wilson, Walter R; Baddour, Larry M; Gersh, Bernard J; DeSimone, Daniel C

    2018-02-15

    Infective endocarditis (IE) is an infection of the inner lining of the heart with high morbidity and mortality despite medical and surgical advancements in recent decades. Hypertrophic cardiomyopathy (HC) is one of several medical conditions that have been linked to an increased risk of IE, but there is a paucity of data on this association. We therefore sought to define the clinical phenotype of IE in patients with HC at a single tertiary care center. A retrospective cohort of 30 adult patients with HC diagnosed with IE between January 1, 2006 and December 31, 2016 at Mayo Clinic Rochester were identified. Similar rates of aortic (n = 14) and mitral (n = 16) valve involvement by IE were noted (47% vs 53%). This finding persisted even in patients with left-ventricular outflow tract obstruction and systolic anterior motion of the mitral valve. Symptomatic embolic complications occurred in 10 cases (33%). Surgical intervention was performed in 11 cases (37%). One-year mortality was remarkably low at 7%. In conclusion, in the largest single-center cohort of IE complicating HC, there were similar rates of both mitral and aortic valve involvement regardless of the presence of left ventricular outflow tract obstruction, which is contrary to a long-standing tenet regarding the association of HC and IE. Moreover, no "high risk" IE subset was identified based on HC-related parameters. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene.

    Charron, P; Dubourg, O; Desnos, M; Bennaceur, M; Carrier, L; Camproux, A C; Isnard, R; Hagege, A; Langlard, J M; Bonne, G; Richard, P; Hainque, B; Bouhour, J B; Schwartz, K; Komajda, M

    1998-06-09

    Little information is available on phenotype-genotype correlations in familial hypertrophic cardiomyopathy that are related to the cardiac myosin binding protein C (MYBPC3) gene. The aim of this study was to perform this type of analysis. We studied 76 genetically affected subjects from nine families with seven recently identified mutations (SASint20, SDSint7, SDSint23, branch point int23, Glu542Gln, a deletion in exon 25, and a duplication/deletion in exon 33) in the MYBPC3 gene. Detailed clinical, ECG, and echocardiographic parameters were analyzed. An intergene analysis was performed by comparing the MYBPC3 group to seven mutations in the beta-myosin heavy-chain gene (beta-MHC) group (n=52). There was no significant phenotypic difference among the different mutations in the MYBPC3 gene. However, in the MYBPC3 group compared with the beta-MHC group, (1) prognosis was significantly better (P<0.0001), and no deaths occurred before the age of 40 years; (2) the age at onset of symptoms was delayed (41+/-19 versus 35+/-17 years, P<0.002); and (3) before 30 years of age, the phenotype was particularly mild because penetrance was low (41% versus 62%), maximal wall thicknesses lower (12+/-4 versus 16+/-7 mm, P<0.03), and abnormal T waves less frequent (9% versus 45%, P<0.02). These results are consistent with specific clinical features related to the MYBPC3 gene: onset of the disease appears delayed and the prognosis is better than that associated with the beta-MHC gene. These findings could be particularly important for the purpose of clinical management and genetic counseling in familial hypertrophic cardiomyopathy.

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

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

    2014-07-26

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

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

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

    2014-01-01

    The recent development of cardiac magnetic resonance (CMR) techniques has allowed detailed analyses of cardiac function and tissue characterization with high spatial resolution. We review characteristic CMR features in ischemic and non-ischemic cardiomyopathies (ICM and NICM), especially in terms of the location and distribution of late gadolinium enhancement (LGE). CMR in ICM shows segmental wall motion abnormalities or wall thinning in a particular coronary arterial territory, and the suben...

  11. Clinical features and three-year outcomes of Takotsubo (stress cardiomyopathy: Observational data from one center

    Sigita Glaveckaitė

    2016-11-01

    Conclusions: Our analysis shows that in-hospital mortality is influenced by the peak concentration of troponin I, and overall mortality is affected by cardiogenic shock and the elevation of BNP during admission. The assessment of troponin I and BNP can help with the prognostication of TTC patients in our daily clinical practice.

  12. Feature tracking CMR reveals abnormal strain in preclinical arrhythmogenic right ventricular dysplasia/ cardiomyopathy: a multisoftware feasibility and clinical implementation study.

    Bourfiss, Mimount; Vigneault, Davis M; Aliyari Ghasebeh, Mounes; Murray, Brittney; James, Cynthia A; Tichnell, Crystal; Mohamed Hoesein, Firdaus A; Zimmerman, Stefan L; Kamel, Ihab R; Calkins, Hugh; Tandri, Harikrishna; Velthuis, Birgitta K; Bluemke, David A; Te Riele, Anneline S J M

    2017-09-01

    Regional right ventricular (RV) dysfunction is the hallmark of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C), but is currently only qualitatively evaluated in the clinical setting. Feature Tracking Cardiovascular Magnetic Resonance (FT-CMR) is a novel quantitative method that uses cine CMR to calculate strain values. However, most prior FT-CMR studies in ARVD/C have focused on global RV strain using different software methods, complicating implementation of FT-CMR in clinical practice. We aimed to assess the clinical value of global and regional strain using FT-CMR in ARVD/C and to determine differences between commercially available FT-CMR software packages. We analyzed cine CMR images of 110 subjects (39 overt ARVD/C [mutation+/phenotype+], 40 preclinical ARVD/C [mutation+/phenotype-] and 31 control) for global and regional (subtricuspid, anterior, apical) RV strain in the horizontal longitudinal axis using four FT-CMR software methods (Multimodality Tissue Tracking, TomTec, Medis and Circle Cardiovascular Imaging). Intersoftware agreement was assessed using Bland Altman plots. For global strain, all methods showed reduced strain in overt ARVD/C patients compared to control subjects (p  0.275). For regional strain, overt ARVD/C patients showed reduced strain compared to control subjects in all segments which reached statistical significance in the subtricuspid region for all software methods (p < 0.037), in the anterior wall for two methods (p < 0.005) and in the apex for one method (p = 0.012). Preclinical subjects showed abnormal subtricuspid strain compared to control subjects using one of the software methods (p = 0.009). Agreement between software methods for absolute strain values was low (Intraclass Correlation Coefficient = 0.373). Despite large intersoftware variability of FT-CMR derived strain values, all four software methods distinguished overt ARVD/C patients from control subjects by both global and subtricuspid

  13. Clinical-radiological experiences in patients with hypertrophic cardiomyopathy

    Hofmann, A; Bonse, G; Beck, B; Sauter, E; Sundermeyer, R; Gunkel, L V

    1986-09-01

    The hypertrophic cardiomyopathy shows a series of interesting clinical and radiological problems, discussed in case of selected patients. A special difficult problem arises in the differential diagnosis of hypertrophic cardiomyopathy and cardiac disease secondary to systemic hypertension.

  14. Frequency and clinical genetics of familial dilated cardiomyopathy in ...

    Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: Implications for the evaluation of patients with unexplained cardiomyopathy. NBA Ntusi, A Wonkam, G Shaboodien, M Badri, BM Mayosi ...

  15. Clinical and molecular classification of cardiomyopathies

    Franco Cecchi

    2012-07-01

    Full Text Available The term “cardiomyopathies” was used for the first time 55 years ago, in 1957. Since then awareness and knowledge of this important and complex group of heart muscle diseases have improved substantially. Over these past five decades a large number of definitions, nomenclature and schemes, have been advanced by experts and consensus panel, which reflect the fast and continued advance of the scientific understanding in the field. Cardiomyopathies are a heterogeneous group of inherited myocardial diseases, which represent an important cause of disability and adverse outcome. Although considered rare diseases, the overall estimated prevalence of all cardiomyopathies is at least 3% in the general population worldwide. Furthermore, their recognition is increasing due to advances in imaging techniques and greater awareness in both the public and medical community. Cardiomyopathies represent an ideal translational model of integration between basic and clinical sciences. A multidisciplinary approach is therefore essential in order to ensure their correct diagnosis and management. In the present work, we aim to provide a concise overview of the historical background, genetic and phenotypic spectrum and evolving concepts leading to the various attempts of cardiomyopathy classifications produced over the decades.

  16. A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies

    Marta Gigli

    2016-07-01

    Full Text Available Titin (TTN is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN the heart expresses two major isoforms (N2B and N2BA that incorporate four distinct regions termed the Z-line, I-band, A-band, and M-line. Next-generation sequencing allows a large number of genes to be sequenced simultaneously and provides the opportunity to easily analyze giant genes such as TTN. Mutations in the TTN gene can cause cardiomyopathies, in particular dilated cardiomyopathy (DCM. DCM is the most common form of cardiomyopathy and it is characterized by systolic dysfunction and dilation of the left ventricle. TTN truncating variants have been described as the most common cause of DCM while the real impact of TTN missense variants in the pathogenesis of DCM is still unclear. In a recent population screening study, rare missense variants potentially pathogenic based on bioinformatic filtering represented only 12.6% of the several hundred rare TTN missense variants found, suggesting that missense variants are very common in TTN and frequently benign. The aim of this review is to understand the clinical role of TTN mutations in DCM and in other cardiomyopathies. Whereas TTN truncations are common in DCM, there is evidence that TTN truncations are rare in the HCM phenotype. Furthermore TTN mutations can also cause arrhythmogenic right ventricular cardiomyopathy (ARVC with distinct clinical features and outcomes. Finally, the identification of a rare missense variant in TTN cosegregating with the restrictive cardiomyopathy (RCM phenotype suggests that TTN is a novel gene in this disease. Clinical diagnostic testing is currently able to analyze over 100 cardiomyopathy genes, including TTN, however, the size and presence of extensive genetic variation in TTN presents clinical challenges in determining significant disease-causing mutations. This review discusses the current knowledge of TTN genetic variations in

  17. [Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].

    Liu, X H; Ding, W W; Han, L; Liu, X R; Xiao, Y Y; Yang, J; Mo, Y

    2017-10-02

    Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy. The reported hypertrophic cardiomyopathy relevant genes MYPN, MYH6 and MYBP3 had also been found in case 1 and 2. Patients with same gene mutation had different clinical manifestations. Both case 4 and 5 had RAF1 mutation (c.770C>T). However, case 4 had special face, low IQ, mild pulmonary artery stenosis, and only mild ventricular hypertrophy. Conclusion: Noonan syndrome is a genetic heterogeneity disease. Our study identified specific gene mutations that could result in Noonan syndrome with hypertrophic cardiomyopathy through molecular biology methods. The results emphasize the importance of gene detection in the management of Noonan syndrome.

  18. Identification of risk factors and demographic features of patients with peri partum cardiomyopathy

    Sharieff, S.; Khan, Shah-e-Zaman

    2002-01-01

    Objective: To describe and identify the demographic features and risk factors for peri partum cardiomyopathy (PPCM). Design: A prospective study: The study was conducted at the department of Adult Cardiology, National Institute of Cardiovascular Diseases (NICVD), Karachi, Pakistan from December 1999 to August 2001. Subjects and Methods: A total of 35 consecutive patients diagnosed to have peri partum cardiomyopathy (PPCM) on echocardiogram were enrolled. Proforma containing demographic characteristics and established risk factors for PPCM was established and filled carefully. The data gathered was analyzed statistically. Results: The mean age at the time of diagnosis was 30.8-6.74 years. Urdu speaking (Mohajir) population was found to be more affected ethnic group (42.9%) Majority of the patients was from lower socio-economic group with poor nutritional status (77%) and multiparous (77.14%). 25.7% had past history of PPCM and 71.4% presented during postpartum period. Mortality at six months was 22.8% while 42.9% had persistent disease and only 34.3% recovered completely. Conclusion: Advanced age, lower economic group with poor nutritional status, multi parity and past history of peri partum cardiomyopathy were identified as risk factors for the development of PPCM, especially among Mohajir population. There was no statistically significant difference between the clinical features and outcome of patients presented first time or with recurrent PPCM. We identified advanced age (>30 years), high LVEDD, and low ejection fraction (EF) at initial presentation as poor prognostic factors. (author)

  19. Patients with the tako-tsubo cardiomyopathy-clinical evaluation and outcome

    Agata Salska

    2014-01-01

    Conclusions: The exact pathogenesis of the tako-tsubo cardiomyopathy remains uncertain, but it is important to take it into account as a differential diagnosis in patients with the clinical features of myocardial infarct in the absence of coronary artery stenosis.

  20. Cardiomyopathy

    ... as a disorder that causes the buildup of abnormal proteins (amyloidosis), a disease that causes inflammation and can cause lumps of ... Cardiomyopathy can lead to abnormal heart rhythms. These abnormal heart rhythms ... other types of heart disease by living a heart-healthy lifestyle and making ...

  1. A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies

    Mogensen, Jens; Hey, Thomas; Lambrecht, Sascha

    2015-01-01

    BACKGROUND: Genetic investigations have established that mutations in proteins of the contractile unit of the myocardium, known as the sarcomere, may be associated with hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and dilated cardiomyopathy (DCM). It has become clinical...... to be the most frequent disease gene in RCM. CONCLUSIONS: To further explore if there is a genotype-phenotype relation, long-term follow-up studies are needed. It is essential to investigate the natural history of the condition among affected individuals and to provide clinical follow-up on disease development...

  2. Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype

    Takeshi Tsuda

    2017-09-01

    Full Text Available Duchenne muscular dystrophy (DMD, Becker muscular dystrophy (BMD, and X-linked dilated cardiomyopathy (XL-DCM consist of a unique clinical entity, the dystrophinopathies, which are due to variable mutations in the dystrophin gene. Dilated cardiomyopathy (DCM is a common complication of dystrophinopathies, but the onset, progression, and severity of heart disease differ among these subgroups. Extensive molecular genetic studies have been conducted to assess genotype-phenotype correlation in DMD, BMD, and XL-DCM to understand the underlying mechanisms of these diseases, but the results are not always conclusive, suggesting the involvement of complex multi-layers of pathological processes that generate the final clinical phenotype. Dystrophin protein is a part of dystrophin-glycoprotein complex (DGC that is localized in skeletal muscles, myocardium, smooth muscles, and neuronal tissues. Diversity of cardiac phenotype in dystrophinopathies suggests multiple layers of pathogenetic mechanisms in forming dystrophic cardiomyopathy. In this review article, we review the complex molecular interactions involving the pathogenesis of dystrophic cardiomyopathy, including primary gene mutations and loss of structural integrity, secondary cellular responses, and certain epigenetic and other factors that modulate gene expressions. Involvement of epigenetic gene regulation appears to lead to specific cardiac phenotypes in dystrophic hearts.

  3. Psychological Features of Takotsubo Cardiomyopathy: Report of Four Cases.

    Jenab, Yaser; Hashemi, Seyedeh Roghaieh; Ghaffari-Marandi, Neda; Zafarghandi, Hoda; Shahmansouri, Nazila

    2017-04-01

    Takotsubo or stress-induced cardiomyopathy is a cardiomyopathy in which the patient has a sudden onset, reversible left ventricular systolic dysfunction without any significant coronary artery disease. Four women, who were at a mean age of 64 years and suffered from chest pain exacerbated by emotional stress, were admitted as cases of acute coronary syndrome and were completely evaluated through precise history taking, physical examination, and ECG. Coronary angiography or coronary multidetector computed tomography was used to exclude significant coronary artery disease. In these patients with confirmed Takotsubo cardiomyopathy, in addition to the Diagnostic and Statistical Manual of the American Psychiatric Association (DSM-IV) criteria, a 71-item form of the Minnesota Multiphasic Personality Inventory (MMPI)-Mini-Mult-was employed for psychological assessment. The main common elevated scale was hypochondriasis. Individuals with high scores on this scale are obsessed with themselves, especially in regard to their body, and often use their disease symptoms in order to manipulate others. They are mainly passive aggressive, critical, and demanding, which stems from their lack of effective verbal abilities as a means of communication, specifically when it comes to anger or hostility expression. To the best of our knowledge, there is no available study evaluating patients with Takotsubo cardiomyopathy using the Mini-Mult questionnaire for psychological assessment.

  4. Right ventricular mechanics in hypertrophic cardiomyopathy using feature tracking

    Badran, Hala Mahfouz; Soliman, Mahmood; Hassan, Hesham; Abdelfatah, Raed; Saadan, Haythem; Yacoub, Magdi

    2013-01-01

    Objectives: Right ventricular (RV) mechanics in hypertrophic cardiomyopathy (HCM) are poorly understood. We investigate global and regional deformation of the RV in HCM and its relationship to LV phenotype, using 2D strain vector velocity imaging (VVI). Methods: 100 HCM patients (42% females, 41 ± 19 years) and 30 control patients were studied using VVI. Longitudinal peak systolic strain (ϵsys), strain rate (SR), time to peak (ϵ) (TTP), displacement of RV free wall (RVFW) and septal wall were analyzed. Similar parameters were quantified in LV septal, lateral, anterior and inferior segments. Intra-V-delay was defined as SD of TTP. Inter-V-delay was estimated from TTP difference between the most delayed LV segment & RVFW. Results: ϵsys and SR of both RV & LV, showed loss of base to apex gradient and significant decline in HCM (p < 0.001). Deformation variables estimated from RVFW were strongly correlated with each other (r = 0.93, p < 0.0001). Both were directly related to LV ϵsys, SRsys, SRe, ejection fraction (EF)%, RVFW displacement (P < 0.001) and inversely related to age, positive family history (p < 0.004, 0.005), RV wall thickness, maximum wall thickness (MWT), intra-V-delay, LA volume (P < 0.0001), LVOT gradient (p < 0.02, 0.005) respectively. ROC curves were constructed to explore the cut-off point that discriminates RV dysfunction. Global and RVFW ϵsys: − 19.5% shows 77, 70% sensitivity & 97% specificity, SRsys: − 1.3s− 1 shows 82, 70% sensitivity & 30% specificity. Multivariate analyses revealed that RVFW displacement (β = − 0.9, p < 0.0001) and global LV SRsys (β = 5.9, p < 0.0001) are independent predictors of global RV deformation. Conclusions: Impairment of RV deformation is evident in HCM using feature tracking. It is independently influenced by LV mechanics and correlated to the severity of LV phenotype. RVFW deformation analysis and global RV assessment are comparable. PMID:24689019

  5. Atlas of the clinical genetics of human dilated cardiomyopathy

    Haas, Jan; Frese, Karen S; Peil, Barbara

    2015-01-01

    AIM: Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution of all clinically relevant disease genes to DCM phenotypes in larger cohorts. We now utilized next-generation sequencing to overcome...... these limitations and screened all DCM disease genes in a large cohort. METHODS AND RESULTS: In this multi-centre, multi-national study, we have enrolled 639 patients with sporadic or familial DCM. To all samples, we applied a standardized protocol for ultra-high coverage next-generation sequencing of 84 genes...... disease variants, we find titin, plakophilin-2, myosin-binding protein-C 3, desmoplakin, ryanodine receptor 2, desmocollin-2, desmoglein-2, and SCN5A variants among the most commonly mutated genes. The overlap between DCM, hypertrophic cardiomyopathy (HCM), and channelopathy causing mutations...

  6. Epidemiology of cardiomyopathy - A clinical and genetic study of dilated cardiomyopathy: The EPOCH-D study

    Soumi Das

    2015-01-01

    Full Text Available Background: Dilated Cardiomyopathy (DCM is a genetic disorder where a heterogeneous group of cardiac-muscles are involved and is characterized by ventricular dilatation, impaired systolic function, reduced myocardial contractility with left ventricular ejection fraction (LVEF less than 40%. Our study aims to report the Demographic, Clinical and Genetic profile of Indian Dilated Cardiomyopathy patients. Methodology: All patients were recruited with prior written informed consent and are of Indian origin. Results: In a total of 80 DCM patients, the prevalence was higher among males. In males, mean age of onset was comparatively less than females. In this cohort, 40% had familial inheritance. Sixty two percent of DCM patients belong to NYHA functional class II with ejection fraction (EF ranging between 21-30% and, around one third of the patients had atrial fibrillation (AF. Genetic screening revealed a novel splice site mutation LMNA (c.639+ G>C and a rare variant MYH7 (c.2769 C>T in a patient and insilico analysis of both variants suggested functional changes that were considered pathogenic. We report 3% and 4% occurance of variants, each in LMNA and MYH7, where as reported frequencies of these genes are 6% LMNA and 4% MYH7. Conclusions: DCM is often familial and all possible candidate genes should be screened to identify mutations. Such type of exercise may help in the identification of mechanistic pathways. Next generation sequencing platforms may play an important role in this respect in future.

  7. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice

    Pinto, Yigal M; Elliott, Perry M; Arbustini, Eloisa

    2016-01-01

    In this paper the Working Group on Myocardial and Pericardial Disease proposes a revised definition of dilated cardiomyopathy (DCM) in an attempt to bridge the gap between our recent understanding of the disease spectrum and its clinical presentation in relatives, which is key for early diagnosis...

  8. Cell therapy in dilated cardiomyopathy: from animal models to clinical trials

    C. del Corsso

    2011-05-01

    Full Text Available Dilated cardiomyopathy can be the end-stage form and common denominator of several cardiac disorders of known cause, such as hypertensive, ischemic, diabetic and Chagasic diseases. However, some individuals have clinical findings, such as an increase in ventricular chamber size and impaired contractility (classical manifestations of dilated cardiomyopathy even in the absence of a diagnosed primary disease. In these patients, dilated cardiomyopathy is classified as idiopathic since its etiology is obscure. Nevertheless, regardless of all of the advances in medical, pharmacological and surgical procedures, the fate of patients with dilated cardiomyopathy (of idiopathic or of any other known cause is linked to arrhythmic episodes, severe congestive heart failure and an increased risk of sudden cardiac death. In this review, we will summarize present data on the use of cell therapies in animal models of dilated cardiomyopathies and will discuss the few clinical trials that have been published so far involving patients affected by this disease. The animal models discussed here include those in which the cardiomyopathy is produced by genetic manipulation and those in which disease is induced by chemical or infectious agents. The specific model used clearly creates restrictions to translation of the proposed cell therapy to clinical practice, insofar as most of the clinical trials performed to date with cell therapy have used autologous cells. Thus, translation of genetic models of dilated cardiomyopathy may have to wait until the use of allogeneic cells becomes more widespread in clinical trials of cell therapies for cardiac diseases.

  9. Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.

    Calcagni, Giulio; Adorisio, Rachele; Martinelli, Simone; Grutter, Giorgia; Baban, Anwar; Versacci, Paolo; Digilio, Maria Cristina; Drago, Fabrizio; Gelb, Bruce D; Tartaglia, Marco; Marino, Bruno

    2018-04-01

    RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation, differentiation, survival, migration, and metabolism. Excluding congenital heart defects, hypertrophic cardiomyopathy is the most frequent cardiovascular defect in patients affected by RASopathies. A worse outcome (in terms of surgical risk and/or mortality) has been described in a specific subset of Rasopathy patients with early onset, severe hypertrophic cardiomyopathy presenting with heart failure. New short-term therapy with a mammalian target of rapamycin inhibitor has recently been used to prevent heart failure in these patients with a severe form of hypertrophic cardiomyopathy. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Clinical Profile and Prognosis of Patients with Right Ventricular Dilated Cardiomyopathy: Results of a Prospective Study

    Ya.R. Akhmatov

    2015-12-01

    Full Text Available The aim of our study was to investigate the clinical prevalence of dilated cardiomyopathy (DCM with predominantly failure of the right-side heart (right ventricular DCM, RV-DCM, and features of the clinical course and prognosis of the disease compared to DCM with biventricular heart failure (BV-HF. The study design suggests a prospective observation of 300 patients with idiopathic DCM between 2000 and 2012. Herewith, we followed the criteria of the WHO/ISFC Task Force (1995 on the Definationa and Classification of Cardiomyopathies. All patients underwent a comprehensive examination. Two groups were formed for further comparative analysis. Group 1 included 22 patients (mean age 42.9±14.3 years, male/female 5/17 with RV-DCM. Group 2 included 38 patients (mean age 43.6±13.8, male/female 29/9 with DCM and BV-HF. The groups were matched for age, sex, NYHA class II-III, and disease duration. According to our aim, we studied 5-year survival prognosis and analyzed the incidence and causes of deaths, as well as the occurrence of nonfatal complications of the disease. Medical therapy for DCM patients was performed according to the CHF therapy guidelines (ACC/AHA 2001, 2005. The results of our investigations during many years of research have shown that the clinical incidence of RV-DCM was 7.3% among all forms of DCM. The study of life prognosis in patients with 2 forms of DCM showed that 5-year mortality of patients was about 50%. Herewith, we detected the differences in causes of death depending on the type of heart damage, primarily development of fatal pulmonary embolism.

  11. Catecholamine induced cardiomyopathy in pheochromocytoma

    Ron Thomas Varghese

    2013-01-01

    Full Text Available Catecholamine induced cardiomyopathy in the setting of pheochromocytoma is an unusual clinical entity. Earlier studies have reported left ventricular dysfunction in around 10% of subjects with pheochromocytoma. [1] Catecholamine induced vasoconstriction, direct toxic effect of byproducts of catecholamine degradation and direct receptor-mediated mechanisms are thought to contribute to cardiomyopathy in subjects with pheochromocytoma. The presentation remains a diagnostic challenge as patients may already have hypertensive heart disease and acute coronary syndrome on account of uncontrolled secondary hypertension. We report a case of a 42-year-old male, who presented with features of pheochromocytoma induced cardiomyopathy.

  12. Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.

    Ripoll-Vera, Tomás; Gámez, José María; Govea, Nancy; Gómez, Yolanda; Núñez, Juana; Socías, Lorenzo; Escandell, Ángela; Rosell, Jorge

    2016-02-01

    Mutations in the troponin T gene (TTNT2) have been associated in small studies with the development of hypertrophic cardiomyopathy characterized by a high risk of sudden death and mild hypertrophy. We describe the clinical course of patients carrying mutations in this gene. We analyzed the clinical characteristics and prognosis of patients with mutations in the TNNT2 gene who were seen in an inherited cardiac disease unit. Of 180 families with genetically studied cardiomyopathies, 21 families (11.7%) were identified as having mutations in TNNT2: 10 families had Arg92Gln, 5 had Arg286His, 3 had Arg278Cys, 1 had Arg92Trp, 1 had Arg94His, and 1 had Ile221Thr. Thirty-three additional genetic carriers were identified through family assessment. The study included 54 genetic carriers: 56% were male, and the mean average age was 41 ± 17 years. There were 33 cases of hypertrophic cardiomyopathy, 9 of dilated cardiomyopathy, and 1 of noncompaction cardiomyopathy, and maximal myocardial thickness was 18.5 ± 6mm. Ventricular dysfunction was present in 30% of individuals and a history of sudden death in 62%. During follow-up, 4 patients died and 14 (33%) received a defibrillator (8 probands, 6 relatives). Mean survival was 54 years. Carriers of Arg92Gln had early disease development, high penetrance, a high risk of sudden death, a high rate of defibrillator implantation, and a high frequency of mixed phenotype. Mutations in the TNNT2 gene were more common in this series than in previous studies. The clinical and prognostic profiles depended on the mutation present. Carriers of the Arg92Gln mutation developed hypertrophic or dilated cardiomyopathy and had a significantly worse prognosis than those with other mutations in TNNT2 or other sarcomeric genes. Copyright © 2015 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  13. Canine dilated cardiomyopathy: a retrospective study of signalment, presentation and clinical findings in 369 cases.

    Martin, M W S; Stafford Johnson, M J; Celona, B

    2009-01-01

    To review the clinical and diagnostic findings and survival of dilated cardiomyopathy from a large population of dogs in England. A retrospective study of the case records of dogs with dilated cardiomyopathy collected between January 1993 and May 2006. There were 369 dogs with dilated cardiomyopathy of which all were pure-bred dogs except for four. The most commonly affected breeds were dobermanns and boxers. Over 95 per cent of dogs weighed more than 15 kg and 73 per cent were male. The median duration of signs before referral was three weeks with 65 per cent presenting in stage 3 heart failure. The most common signs were breathlessness (67 per cent) and coughing (64 per cent). The majority of dogs (89 per cent) had an arrhythmia at presentation and 74 per cent of dogs had radiographic signs of pulmonary oedema or pleural effusion. The median survival time was 19 weeks. Dilated cardiomyopathy occurs primarily in medium to large breed pure-bred dogs, and males are more frequently affected than females. The duration of clinical signs before referral is often short and the survival times are poor. Greater awareness of affected breeds, clinical signs and diagnostic findings may help in early recognition of this disease which often has a short clinical phase.

  14. Clinical predictors of outcome in patients with inflammatory dilated cardiomyopathy.

    Konstantinos Karatolios

    Full Text Available The study objectives were to identify predictors of outcome in patients with inflammatory dilated cardiomyopathy (DCMi.From 2004 to 2008, 55 patients with biopsy-proven DCMi were identified and followed up for 58.2±19.8 months. Predictors of outcome were identified in a multivariable analysis with a Cox proportional hazards analysis. The primary endpoint was a composite of death, heart transplantation and hospitalization for heart failure or ventricular arrhythmias.For the primary endpoint, a QTc interval >440msec (HR 2.84; 95% CI 1.03-7.87; p = 0.044, a glomerular filtration rate (GFR 440msec, a GFR<60ml/min/1.73m2 and worsening of NYHA classification during follow-up were univariate predictors of adverse prognosis. In contrast, NYHA classification at baseline, left ventricular ejection fraction, atrial fibrillation, treatment with digitalis or viral genome detection were not related to outcome. After multivariable analysis, a GFR <60ml/min/1.73m2 remained independently associated with adverse outcome.

  15. Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

    Parkinson, Michael H; Boesch, Sylvia; Nachbauer, Wolfgang; Mariotti, Caterina; Giunti, Paola

    2013-08-01

    One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative ataxic syndrome which bears his name, his description remains at the core of the classical clinical phenotype of gait and limb ataxia, poor balance and coordination, leg weakness, sensory loss, areflexia, impaired walking, dysarthria, dysphagia, eye movement abnormalities, scoliosis, foot deformities, cardiomyopathy and diabetes. Onset is typically around puberty with slow progression and shortened life-span often related to cardiac complications. Inheritance is autosomal recessive with the vast majority of cases showing an unstable intronic GAA expansion in both alleles of the frataxin gene on chromosome 9q13. A small number of cases are caused by a compound heterozygous expansion with a point mutation or deletion. Understanding of the underlying molecular biology has enabled identification of atypical phenotypes with late onset, or atypical features such as retained reflexes. Late-onset cases tend to have slower progression and are associated with smaller GAA expansions. Early-onset cases tend to have more rapid progression and a higher frequency of non-neurological features such as diabetes, cardiomyopathy, scoliosis and pes cavus. Compound heterozygotes, including those with large deletions, often have atypical features. In this paper, we review the classical and atypical clinical phenotypes of Friedreich's ataxia. © 2013 International Society for Neurochemistry.

  16. Omega-3 supplementation on inflammatory markers in patients with chronic Chagas cardiomyopathy: a randomized clinical study.

    Silva, Paula Simplício da; Mediano, Mauro Felippe Felix; Silva, Gilberto Marcelo Sperandio da; Brito, Patricia Dias de; Cardoso, Claudia Santos de Aguiar; Almeida, Cristiane Fonseca de; Sangenis, Luiz Henrique Conde; Pinheiro, Roberta Olmo; Hasslocher-Moreno, Alejandro Marcel; Brasil, Pedro Emmanuel Alvarenga Americano do; Sousa, Andrea Silvestre de

    2017-06-09

    Several studies have been focusing on the effect of omega-3 polyunsaturated fatty acids on modulation of inflammatory markers in several cardiopathies. Although immunoregulatory dysfunction has been associated to the chronic cardiac involvement in Chagas disease, there is no study examining the effects of omega-3 supplementation in these patients. We investigated the effects of omega-3 PUFAs on markers of inflammation and lipid profile in chronic Chagas cardiomyopathy patients. The present study was a single-center double-blind clinical trial including patients with chronic Chagas cardiomyopathy. Patients were randomly assigned to receive omega-3 PUFAs capsules (1.8g EPA and 1.2g DHA) or placebo (corn oil) during an 8-week period. Cytokines, fasting glucose, lipid, and anthropometric profiles were evaluated. Forty-two patients (23 women and 19 men) were included in the study and there were only two losses to follow-up during the 8-week period. Most of sociodemographic and clinical characteristics were similar between the groups at baseline, except for the cytokines IL-1β, IL-6, IL-8, IL-10, IL-17α, and IFNγ. The omega-3 PUFAs group demonstrated greater improvements in serum triglycerides (-21.1 vs. -4.1; p = 0.05) and IL-10 levels (-10.6 vs. -35.7; p = 0.01) in comparison to controls after 8 weeks of intervention. No further differences were observed between groups. Omega-3 PUFAs supplementation may favorably affect lipid and inflammatory profile in chronic Chagas cardiomyopathy patients, demonstrated by a decrease in triglycerides and improvements on IL-10 concentration. Further studies examining the clinical effects of omega-3 fatty acids supplementation in chronic Chagas cardiomyopathy are necessary. NCT01863576.

  17. Cardiac magnetic resonance assessment of takotsubo cardiomyopathy

    Abbas, A.; Sonnex, E.; Pereira, R.S.; Coulden, R.A.

    2016-01-01

    Takotsubo cardiomyopathy is an important condition that can be difficult to differentiate from acute coronary syndrome on the basis of clinical, electrocardiogram, and cardiac enzyme assessment alone. Although coronary angiography remains important in the acute assessment of patients with suspected takotsubo cardiomyopathy, cardiac magnetic resonance (CMR) has emerged over the last decade as an important non-invasive imaging tool in the diagnosis and follow-up of this condition. We present a review highlighting the CMR features of takotsubo cardiomyopathy and its complications with particular focus on differentiating this condition from acute myocardial infarction and myocarditis.

  18. MR imaging in cardiomyopathies

    Miller, S.; Riessen, R.

    2005-01-01

    According to the WHO classification, cardiomyopathies are a group of diseases which are associated with myocardial dysfunction and can be classified either as primary or secondary cardiomyopathies. Genetic disorders have been identified in certain primary cardiomyopathies, however often the etiology remains unknown. The term ''secondary cardiomyopathy'' is used to specify diseases with the clinical indications of a cardiomyopathy, but can be attributed to a certain pathophysiological mechanism such as exposure to toxic substances, metabolic syndromes or systemic diseases. Based on morphological and functional criteria, primary cardiomyopathies are divided into dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVC) and restrictive cardiomyopathy (RCM). During the last two decades MR imaging has emerged to a well established diagnostic tool for the understanding and treatment of cardiomyopathies. Morphological and functional information can be achieved with a high level of accuracy and reproducibility. Tissue alteration of the myocardium can be detected assessing regional contrast enhancement, T1- and T2-signal intensities and chemical shift phenomena. This article describes characteristic aspects of MR imaging for the diagnosis of primary and secondary cardiomyopathies. (orig.)

  19. Clinical assessment of serum myosin light chain I in patients with dilated cardiomyopathy

    Tsuda, Takashi; Izumi, Tohru; Shibata, Akira (Niigata Univ. (Japan). School of Medicine)

    1992-08-01

    Serum cardiac myosin light chain I (LCI) levels were quantitated using a radioimmunoassay kit in patients suspected of dilated cardiomyopathy (DCM). In this study, 55 patients were evaluated between 1986 and 1991. They were composed of 40 males and 15 females, and their age was 27-75 years (51[+-]11 years). The patients with renal dysfunction were excluded due to their serum creatinine levels (>2.0 mg/dl). After cardiac catheterization, endomyocardial biopsy and echocardiography, 44 patients were diagnosed as DCM, 2 as ischemic heart disease, 2 as chronic myocarditis, 1 as restrictive cardiomyopathy, 1 as dilated hypertrophic cardiomyopathy, 1 as cardiac amyloidosis, 2 as myopathy, 1 as polymyositis and 1 as hypothyroidism. Only two patients with DCM had elevated LCI. Besides, two patients with myopathy or hypothyroidism had elevated LCI. In the follow-up, one patient died suddenly 6 months later and another showed normal value of LCI four years later. LCI elevation in DCM was not related to either the severity of heart failure or cardiac function and it showed no finding of [sup 201]Tl myocardial defect or elevated CPK. The mechanism for elevated LCI in myopathy is related to a crossreaction with myosin light chain in the skeletal muscle. In hypothyroidism, it may be related to decreased clearance of normal LCI concentration or increased myosin light chain from damaged skeletal muscle. In conclusion, it is evident that the measurement of LCI is not helpful in clinical assessment of patients with DCM, but may be useful in detection of secondary cardiomyopathy. (author).

  20. Clinical assessment of serum myosin light chain I in patients with dilated cardiomyopathy

    Tsuda, Takashi; Izumi, Tohru; Shibata, Akira

    1992-01-01

    Serum cardiac myosin light chain I (LCI) levels were quantitated using a radioimmunoassay kit in patients suspected of dilated cardiomyopathy (DCM). In this study, 55 patients were evaluated between 1986 and 1991. They were composed of 40 males and 15 females, and their age was 27-75 years (51±11 years). The patients with renal dysfunction were excluded due to their serum creatinine levels (>2.0 mg/dl). After cardiac catheterization, endomyocardial biopsy and echocardiography, 44 patients were diagnosed as DCM, 2 as ischemic heart disease, 2 as chronic myocarditis, 1 as restrictive cardiomyopathy, 1 as dilated hypertrophic cardiomyopathy, 1 as cardiac amyloidosis, 2 as myopathy, 1 as polymyositis and 1 as hypothyroidism. Only two patients with DCM had elevated LCI. Besides, two patients with myopathy or hypothyroidism had elevated LCI. In the follow-up, one patient died suddenly 6 months later and another showed normal value of LCI four years later. LCI elevation in DCM was not related to either the severity of heart failure or cardiac function and it showed no finding of 201 Tl myocardial defect or elevated CPK. The mechanism for elevated LCI in myopathy is related to a crossreaction with myosin light chain in the skeletal muscle. In hypothyroidism, it may be related to decreased clearance of normal LCI concentration or increased myosin light chain from damaged skeletal muscle. In conclusion, it is evident that the measurement of LCI is not helpful in clinical assessment of patients with DCM, but may be useful in detection of secondary cardiomyopathy. (author)

  1. Clinical features of radiation retinopathy

    Tabuchi, Shoko; Oda, Itsuo; Okawa, Tomohiko

    1977-01-01

    The clinical features of 25 cases with radiation retinopathy are described. Retinopathy was induced following therapeutic irradiation of paraobital malignancies with megavoltage Linac x-ray of 3,000 rads or more. Retinal vessels, particularly the proximal portion of retinal arteries, seemed to be the primary site of damage due to radiation. According to the type of lesion and dosage, fundus features simulated papillitis, retinal angiosclerosis, or hard exudates due to capillary obliteration. Acute obstruction of the central retinal artery and ischemic optic neuropathy could result from heavy irradiation of over 5,000 rads. (Evans, J.)

  2. Supra-Hisian Conduction Block as an Unusual Presenting Feature of Takotsubo Cardiomyopathy.

    Prabhu, Mukund Aravind; Pai, Praveen Gopalakrishna; Vupputuri, Anjith; Shekhar, Saritha; Harikrishnan, Madhavankutty Santhakumari; Kumaraswamy, Natarajan Umayammal

    2017-05-01

    Atrioventricular (AV) block is rare in Takotsubo cardiomyopathy (TC). A 66-year-old female presented with fatigue. Her electrocardiogram revealed 3:2 Mobitz Type II AV block, confirmed to be supra-Hisian by electrophysiological study. Echocardiogram and left ventricular angiogram showed moderate left ventricular dysfunction and apical ballooning, whereas coronary angiogram revealed mildly ectatic coronaries. At 2 weeks AV block persisted, needing permanent pacemaker implantation. At 1-month follow-up, she had normal ventricular function and no AV block. Delayed recovery of AV conduction is possible in TC, thus implying to wait for a longer period before implanting a pacemaker. © 2016 Wiley Periodicals, Inc.

  3. Takotsubo cardiomyopathy

    Nielsen, Lene Hüche; Munk, Kim; Goetzsche, Ole

    2009-01-01

    INTRODUCTION: Sparse information with regard to the electrocardiographic (ECG) changes in Takotsubo cardiomyopathy (TC) is available. The purpose of this study was to describe the clinical characteristics and electrocardiographic changes in a Danish cohort of patients with TC. We discuss the pote......INTRODUCTION: Sparse information with regard to the electrocardiographic (ECG) changes in Takotsubo cardiomyopathy (TC) is available. The purpose of this study was to describe the clinical characteristics and electrocardiographic changes in a Danish cohort of patients with TC. We discuss...... retrospectively from medical records and the hospitals laboratory database. RESULTS: Seven patients with TC were identified comprising six females and one male (mean age 70, range 53-81 years). In the acute phase all patients had ECG changes compatible with ST-elevation acute myocardial infarction (STEMI...

  4. Clinical long-term outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in infants.

    Schleihauf, Julia; Cleuziou, Julie; Pabst von Ohain, Jelena; Meierhofer, Christian; Stern, Heiko; Shehu, Nerejda; Mkrtchyan, Naira; Kaltenecker, Emanuel; Kühn, Andreas; Nagdyman, Nicole; Hager, Alfred; Seidel, Heide; Lange, Rüdiger; Ewert, Peter; Wolf, Cordula M

    2018-03-01

    Surgical septal myectomy is performed to relieve left ventricular outflow tract narrowing in severe drug-refractory obstructive hypertrophic cardiomyopathy. The objective of this study was to assess the perioperative and long-term clinical outcome of this procedure performed during infancy. Clinical, transthoracic echocardiographic, electrocardiographic, 24-h Holter, cardiopulmonary exercise test and genetic data were extracted by medical record review. A subset of patients underwent additional prospective detailed clinical evaluation including cardiac magnetic resonance imaging with contrast. Surgery was performed in 23 paediatric patients between 1978 and 2015 at the German Heart Centre Munich. Twelve patients had undergone surgery during infancy (≤ 1 year) (Group A), 11 between 1 and 18 years of age (Group B). The underlying genetic diagnosis was Noonan syndrome spectrum and non-syndromic hypertrophic cardiomyopathy. As compared to Group B, patients in Group A showed more concomitant cardiac procedures and received more homologous transfusions. One perioperative death occurred in Group A, and none in Group B. Two patients in Group A but no patient in Group B required redo septal myectomy. The long-term clinical outcome was similar between the 2 groups. One patient in Group B required cardioverter-defibrillator/pacemaker implantation for higher degree atrioventricular block and none in Group A. There was no evidence of differences in myocardial fibrosis between groups on long-term follow-up magnetic resonance imaging. Surgical septal myectomy can be performed safely during infancy with favourable perioperative and long-term clinical outcome but with a trend towards a higher reoperation rate later in life. © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  5. Acromegaly: clinical features at diagnosis.

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

    2017-02-01

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

  6. Clinical features of paralytic strabismus

    Xin-Ling Wang

    2013-09-01

    Full Text Available AIM: To observe the clinical features of paralytic strabismus and analyze its etiology.METHODS: Eighty-nine cases(97 eyeswere diagnosed with paralytic strabismus and recruited in this study in the Department of Ophthalmology, the Fourth Affiliated Hospital, China Medical University between July 2008 and February 2013. The clinical data were recorded including the general and ophthalmic history, symptom, visual acuity, fundus, pupil, eyelid, visual field, eye movement, synoptophore, acting countervail head, ultrasound of eyeball and ocular muscle, color Doppler ultrasonography of the carotid artery, orbital computed tomography(CT, brain magnetic resonance imaging(MRI, blood biochemistry and immunologic tests.RESULTS: The medical history disclosed that among these cases, hypertension in 36 cases, diabetic mellitus in 28 cases, hyperlipidemia in 19 cases, heart diseases in 17 cases, ischemic cerebrovascular disease in 12 cases and hyperthyroidism in 3 cases. Symptoms included vertigo in 47 cases and binocular temporal amaurosis in 36 cases. The horizontal restriction was manifested in 38 cases 45 eyes, vertical restriction in 42 cases with 42 eyes, and horizontal-and-vertical restriction in 9 cases with 10 eyes. CONCLUSION: Brain vascular ischemic disease is one of the top reasons causing paralytic strabismus. Systemic disease history was found in a high proportion of the cases. It is of great essence to detect the life-threatening ischemia of vertebrobasilar artery system and take priority for treatment.

  7. Clinical Features of Fatal Asthma

    Chiung-Zuei Chen

    2006-05-01

    Full Text Available To characterize the clinical features of fatal asthma, we retrospectively analyzed the clinical characteristics of patients who died of an acute asthma attack in our hospital during a 15-year period from 1989 to 2003. Twelve patients had fatal asthma during this period, including eight who were dead on arrival in the emergency room (ER and three who died within 1 hour of admission to the ER. Patients were categorized into three groups according to the clinical presentations during the fatal attack: (1 rapid (< 3 hours decompensation in four patients; (2 gradual development of respiratory failure over several days in two patients; and (3 acute deterioration after unstable asthma lasting several days in six patients. All patients in groups 1 and 2 had reported previous near-fatal attacks. The proportion of young patients was highest in group 3, with half of them (3/6 younger than 35 years of age. Only one patient in group 3 had had a previous near-fatal attack. Five of the seven patients, with previous near-fatal attacks, had a pattern of decompensation during their fatal attack that was similar to their previous attacks. In conclusion, nearly all patients with fatal asthma in this study died outside of the hospital or within 1 hour after admission to the ER. Patients had patterns of decompensation during the fatal attack that were similar to those of their previous attacks. Early detection of warning signs, early admission to the ER, adequate treatment, and extremely close observation of patients, especially within 1 hour after ER arrival, may prevent or decrease the incidence of fatal asthmatic attack.

  8. Cushing’s Disease Presented by Reversible Dilated Cardiomyopathy

    Berna İmge Aydoğan

    2015-01-01

    Full Text Available Introduction. Dilated cardiomyopathy is rarely reported among CS patients especially without hypertension and left ventricular hypertrophy. Materials and Methods. We hereby report a Cushing’s syndrome case presenting with dilated cardiomyopathy. Results. A 48-year-old female patient was admitted to our clinic with severe proximal myopathy and dilated cardiomyopathy without ventricular hypertrophy. Cushing’s disease was diagnosed and magnetic-resonance imaging of the pituitary gland revealed a microadenoma. Under diuretic and ketoconazole treatments, she underwent a successful transnasal/transsphenoidal adenomectomy procedure. Full recovery of symptoms and echocardiographic features was achieved after six months of surgery. Conclusion. Cushing’s syndrome must be kept in mind as a reversible cause of dilated cardiomyopathy. Recovery of cardiomyopathy is achieved with successful surgery.

  9. Clinical profile and echocardiographic findings of patients with cardiomyopathy at a tertiary care hospital

    Kishor Teple

    2016-01-01

    Full Text Available Cardiomyopathy is a primarily disorder of the heart muscle that causes abnormal myocardial performance and is not the result of disease or dysfunction of other cardiac structures. It is an important and heterogeneous group of diseases. We conducted this study at a tertiary care center with the aim to study the clinical profile and echocardiographic findings of cardiomyopathy patients. This study was a descriptive cross-sectional study conducted over a period of 18 months from September 2013 to August 2015. 50 consecutive patients of cardiomyopathy, attending out-patient department and admitted in tertiary care hospital and meeting inclusion and exclusion criteria were selected. Microsoft Office® Excel software was used for data entry and IBM SPSS 18 was used for descriptive statistics. In our study maximum number of patient belonged to age group of 30 to 49 years (n= 25, 50%. The mean age of presentation was 45.16 years where as mean age for male patients was 45.68 and for female patients was 45.18 years. Male to female ratio was 3.16:1.Dilated cardiomyopathy (n= 26, 52% was most common type of cardiomyopathy. In DCM patients most common symptom was dyspnea (n=26,84.6% and most common sign was pedal edema (n=14,53.8%. Among HCM patients, dyspnea (33.3% was the commonest presenting complaint but large number of patients were asymptomatic (28.6 % and commonest sign was pedal edema (n=5, 23.8%. In DCM patients common ECG findings include Left ventricular hypertrophy (34.6%, Left axis deviation (30.8%, Left bundle branch block (23.1%, atrial fibrillation (23.1%, sinus tachycardia (23.1% and ventricular premature complex (11.5%. Common ECGfinding in HCM patients were Left ventricular hypertrophy (47.6%, giant T wave inversion in V2- V6 (42.9%, Left axis deviation (33.3%, ventricular premature complex (14.3%, Left bundle branch block (9.5% and atrial fibrillation (9.5%. Echocardiography findings for DCM patients in our study were, LV systolic

  10. Identifying unmet clinical need in hypertrophic cardiomyopathy using national electronic health records.

    Mar Pujades-Rodriguez

    Full Text Available To evaluate unmet clinical need in unselected hypertrophic cardiomyopathy (HCM patients to determine the risk of a wide range of subsequent cardiovascular disease endpoints and safety endpoints relevant for trial design.Population based cohort (CALIBER, linked primary care, hospital and mortality records in England, period 1997-2010, all people diagnosed with HCM were identified and matched by age, sex and general practice with ten randomly selected people without HCM. Random-effects Poisson models were used to assess the associations between HCM and cardiovascular diseases and bleeding.Among 3,290,455 eligible people a diagnosis of hypertrophic cardiomyopathy was found in 4 per 10,000. Forty-one percent of the 1,160 individuals with hypertrophic cardiomyopathy were women and the median age was 57 years. The median follow-up was 4.0 years. Compared to general population controls, people with HCM had higher risk of ventricular arrhythmia (incidence rate ratio = 23.53, [95% confidence interval 12.67-43.72], cardiac arrest or sudden cardiac death (6.33 [3.69-10.85], heart failure (4.31, [3.30-5.62], and atrial fibrillation (3.80 [3.04-4.75]. HCM was also associated with a higher incidence of myocardial infarction ([MI] 1.90 [1.27-2.84] and coronary revascularisation (2.32 [1.46-3.69].The absolute Kaplan-Meier risks at 3 years were 8.8% for the composite endpoint of cardiovascular death or heart failure, 8.4% for the composite of cardiovascular death, stroke or myocardial infarction, and 1.5% for major bleeding.Our study identified major unmet need in HCM and highlighted the importance of implementing improved cardiovascular prevention strategies to increase life-expectancy of the contemporary HCM population. They also show that national electronic health records provide an effective method for identifying outcomes and clinically relevant estimates of composite efficacy and safety endpoints essential for trial design in rare diseases.

  11. Identifying unmet clinical need in hypertrophic cardiomyopathy using national electronic health records.

    Pujades-Rodriguez, Mar; Guttmann, Oliver P; Gonzalez-Izquierdo, Arturo; Duyx, Bram; O'Mahony, Constantinos; Elliott, Perry; Hemingway, Harry

    2018-01-01

    To evaluate unmet clinical need in unselected hypertrophic cardiomyopathy (HCM) patients to determine the risk of a wide range of subsequent cardiovascular disease endpoints and safety endpoints relevant for trial design. Population based cohort (CALIBER, linked primary care, hospital and mortality records in England, period 1997-2010), all people diagnosed with HCM were identified and matched by age, sex and general practice with ten randomly selected people without HCM. Random-effects Poisson models were used to assess the associations between HCM and cardiovascular diseases and bleeding. Among 3,290,455 eligible people a diagnosis of hypertrophic cardiomyopathy was found in 4 per 10,000. Forty-one percent of the 1,160 individuals with hypertrophic cardiomyopathy were women and the median age was 57 years. The median follow-up was 4.0 years. Compared to general population controls, people with HCM had higher risk of ventricular arrhythmia (incidence rate ratio = 23.53, [95% confidence interval 12.67-43.72]), cardiac arrest or sudden cardiac death (6.33 [3.69-10.85]), heart failure (4.31, [3.30-5.62]), and atrial fibrillation (3.80 [3.04-4.75]). HCM was also associated with a higher incidence of myocardial infarction ([MI] 1.90 [1.27-2.84]) and coronary revascularisation (2.32 [1.46-3.69]).The absolute Kaplan-Meier risks at 3 years were 8.8% for the composite endpoint of cardiovascular death or heart failure, 8.4% for the composite of cardiovascular death, stroke or myocardial infarction, and 1.5% for major bleeding. Our study identified major unmet need in HCM and highlighted the importance of implementing improved cardiovascular prevention strategies to increase life-expectancy of the contemporary HCM population. They also show that national electronic health records provide an effective method for identifying outcomes and clinically relevant estimates of composite efficacy and safety endpoints essential for trial design in rare diseases.

  12. Ventricular arrhythmias and sudden cardiac arrest in Takotsubo cardiomyopathy: Incidence, predictive factors, and clinical implications.

    Jesel, Laurence; Berthon, Charlotte; Messas, Nathan; Lim, Han S; Girardey, Mélanie; Marzak, Halim; Marchandot, Benjamin; Trinh, Annie; Ohlmann, Patrick; Morel, Olivier

    2018-04-06

    Takotsubo cardiomyopathy (TTC) is a stress-related transient cardiomyopathy. Life-threatening arrhythmias (LTA) can occur and worsen prognosis. The purpose of this study was to assess the incidence and outcome of LTA in TTC, as well as its predictive factors and clinical implications. We studied 214 consecutive cases of TTC over 8 years. The study cohort was divided into 2 groups: those with LTA (LTA group) and those without (non-LTA group). LTA was defined as ventricular tachycardia, ventricular fibrillation, or cardiac arrest. LTA occurred in 10.7% of patients mainly in the first 24 hours of hospitalization: ventricular tachycardia (n = 2), ventricular fibrillation (n = 11), cardiac arrest (n = 10: 5 asystole, 3 complete heart block, and 2 sinoatrial block). LTA were associated with lower left ventricular ejection fraction (LVEF) and a high rate of conduction disturbances. In-hospital (39.1% vs 8.9%; P 105 ms were independent predictors of LTA. In cases where a device was implanted, conduction disturbances persisted after the index event despite complete recovery of LVEF. There was no ventricular arrhythmia recurrence during follow-up. LTA occur early in patients presenting with TTC and is associated with significantly worse short- and long-term prognosis. Left ventricular impairment and QRS duration >105 ms are independent predictors of LTA. Ventricular arrhythmias occurred in the acute phase without further recurrence recorded in hospital survivors, whereas severe conduction disorders persisted during long-term follow-up. These findings may have implications on the choice of device therapy for this specific patient subgroup. Copyright © 2018 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  13. Acute peritonitis as the first presentation of valvular cardiomyopathy.

    Higgins, Nikki

    2012-02-01

    Valvular cardiomyopathy can present a diagnostic challenge in the absence of overt cardiac symptoms. This report describes the case of a 46-year-old woman who presented with acute peritonitis associated with vomiting and abdominal distension. Subsequent abdominal computed tomography and ultrasound revealed bibasal pleural effusions, ascites, and normal ovaries. An echocardiogram revealed that all cardiac chambers were dilated with a global decrease in contractility and severe mitral, tricuspid, and aortic regurgitation. A diagnosis of cardiomyopathy with acute heart failure, secondary to valvular heart disease, was secured. Acute peritonitis as the presenting feature of valvular cardiomyopathy is a rare clinical entity.

  14. Quantification of coronary flow reserve in patients with ischaemic and non-ischaemic cardiomyopathy and its association with clinical outcomes.

    Majmudar, Maulik D; Murthy, Venkatesh L; Shah, Ravi V; Kolli, Swathy; Mousavi, Negareh; Foster, Courtney R; Hainer, Jon; Blankstein, Ron; Dorbala, Sharmila; Sitek, Arkadiusz; Stevenson, Lynne W; Mehra, Mandeep R; Di Carli, Marcelo F

    2015-08-01

    Patients with left ventricular systolic dysfunction frequently show abnormal coronary vascular function, even in the absence of overt coronary artery disease. Moreover, the severity of vascular dysfunction might be related to the aetiology of cardiomyopathy.We sought to determine the incremental value of assessing coronary vascular dysfunction among patients with ischaemic (ICM) and non-ischaemic (NICM) cardiomyopathy at risk for adverse cardiovascular outcomes. Coronary flow reserve (CFR, stress/rest myocardial blood flow) was quantified in 510 consecutive patients with rest left ventricular ejection fraction (LVEF) ≤45% referred for rest/stress myocardial perfusion PET imaging. The primary end point was a composite of major adverse cardiovascular events (MACE) including cardiac death, heart failure hospitalization, late revascularization, and aborted sudden cardiac death.Median follow-up was 8.2 months. Cox proportional hazards model was used to adjust for clinical variables. The annualized MACE rate was 26.3%. Patients in the lowest two tertiles of CFR (CFR ≤ 1.65) experienced higher MACE rates than those in the highest tertile (32.6 vs. 15.5% per year, respectively, P = 0.004), irrespective of aetiology of cardiomyopathy. Impaired coronary vascular function, as assessed by reduced CFR by PET imaging, is common in patients with both ischaemic and non-ischaemic cardiomyopathy and is associated with MACE. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email: journals.permissions@oup.com.

  15. Delayed-enhancement magnetic resonance imaging in patients with clinically suspected stress cardiomyopathy (Tako-Tsubo)

    Muellerleile, K.; Sultan, A.; Willems, S.; Lund, G.; Groth, M.; Adam, G.; Barmeyer, A.; Meinertz, T.; Koester, R.; Heitzer, T.

    2010-01-01

    To compare the ability of delayed-enhancement magnetic resonance imaging (DE-MRI) and other MRI and clinical parameters to identify diseases mimicking stress cardiomyopathy (SCM). The study included 14 consecutive patients fulfilling the American Heart Association (AHA) criteria for SCM with acute left ventricular dysfunction in the absence of coronary artery disease, triggered by psychological stress. The MRI protocol consisted of cine, T 2-weighted, first-pass-perfusion (FPP) and DE-MRI. Six patients with DE were classified as mimicking SCM (non-SCM) and 8 patients without DE as SCM. FPP defects were found in 4 patients with non-SCM and in none with SCM (p < 0.05). Myocardial edema was found in 5 patients with non-SCM and in 2 patients with SCM (p = ns). No significant differences in clinical findings such as ECG, cardiac markers and echocardiographic recovery of left ventricular function were found between patients with non-SCM and SCM. Non-SCM defined by DE-MRI is a frequent finding in patients fulfilling the AHA criteria for SCM. Clinical findings seem to be of limited value to differentiate between non-SCM and SCM. (orig.)

  16. Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications.

    Gowrisankar, Sivakumar; Lerner-Ellis, Jordan P; Cox, Stephanie; White, Emily T; Manion, Megan; LeVan, Kevin; Liu, Jonathan; Farwell, Lisa M; Iartchouk, Oleg; Rehm, Heidi L; Funke, Birgit H

    2010-11-01

    Medical sequencing for diseases with locus and allelic heterogeneities has been limited by the high cost and low throughput of traditional sequencing technologies. "Second-generation" sequencing (SGS) technologies allow the parallel processing of a large number of genes and, therefore, offer great promise for medical sequencing; however, their use in clinical laboratories is still in its infancy. Our laboratory offers clinical resequencing for dilated cardiomyopathy (DCM) using an array-based platform that interrogates 19 of more than 30 genes known to cause DCM. We explored both the feasibility and cost effectiveness of using PCR amplification followed by SGS technology for sequencing these 19 genes in a set of five samples enriched for known sequence alterations (109 unique substitutions and 27 insertions and deletions). While the analytical sensitivity for substitutions was comparable to that of the DCM array (98%), SGS technology performed better than the DCM array for insertions and deletions (90.6% versus 58%). Overall, SGS performed substantially better than did the current array-based testing platform; however, the operational cost and projected turnaround time do not meet our current standards. Therefore, efficient capture methods and/or sample pooling strategies that shorten the turnaround time and decrease reagent and labor costs are needed before implementing this platform into routine clinical applications.

  17. Dilated Cardiomyopathy

    ... Family history of dilated cardiomyopathy Inflammation of heart muscle from immune system disorders, such as lupus Neuromuscular disorders, such as muscular dystrophy Complications Complications from dilated cardiomyopathy include: Heart ...

  18. Clinical features of movement disorders.

    Yung, C Y

    1983-08-01

    The descriptive aspects of all types of movement disorders and their related syndromes and terminologies used in the literature are reviewed and described. This comprises the features of (a) movement disorders secondary to neurological diseases affecting the extrapyramidal motor system, such as: athetosis, chorea, dystonia, hemiballismus, myoclonus, tremor, tics and spasm, (b) drug induced movement disorders, such as: akathisia, akinesia, hyperkinesia, dyskinesias, extrapyramidal syndrome, and tardive dyskinesia, and (c) abnormal movements in psychiatric disorders, such as: mannerism, stereotyped behaviour and psychomotor retardation. It is intended to bring about a more comprehensive overview of these movement disorders from a phenomenological perspective, so that clinicians can familiarize with these features for diagnosis. Some general statements are made in regard to some of the characteristics of movement disorders.

  19. Comparison Between Clinical and Echocardiographic Findings in Infants and Children Diagnosed with Hypertrophic Cardiomyopathy

    Cristina Blesneac

    2015-06-01

    Full Text Available Background: Hypertrophic cardiomyopathy is a rather common hereditary disease with an autozomal dominant character, caused by mutations of genes that code for proteins of the cardiac sarcomere. The observed prevalence of this disease is much lower in pediatric patients compared to adults, because it’s late gene expression. Hypertrophic cardiomyopathy presenting in infancy has been shown to have a very high mortality.

  20. High?Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease

    2016-01-01

    Background High?sensitivity troponin (hs?TNT), a biomarker of myocardial damage, might be useful for assessing fibrosis in Fabry cardiomyopathy. We performed a prospective analysis of hs?TNT as a biomarker for myocardial changes in Fabry patients and a retrospective longitudinal follow?up study to assess longitudinal hs?TNT changes relative to fibrosis and cardiomyopathy progression. Methods and Results For the prospective analysis, hs?TNT from 75 consecutive patients with genetically confirm...

  1. Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic.

    Arad, Michael; Monserrat, Lorenzo; Haron-Khun, Shiraz; Seidman, Jonathan G; Seidman, Christine E; Arbustini, Eloisa; Glikson, Michael; Freimark, Dov

    2014-11-01

    Hypertrophic cardiomyopathy (HCM) is a familial disease with autosomal dominant inheritance and age-dependent penetrance, caused primarily by mutations of sarcomere genes. Because the clinical variability of HCM is related to its genetic heterogeneity, genetic studies may improve the diagnosis and prognostic evaluation in HCM. To analyze the impact of genetic diagnosis on the clinical management of HCM. Genetic studies were performed for either research or clinical reasons. Once the disease-causing mutation was identified, the management plan was reevaluated. Family members were invited to receive genetic counseling and encouraged to be tested for the mutation. Ten mutations in sarcomere protein genes were identified in 9 probands: 2 novel and 8 previously described. Advanced heart failure or sudden death in a young person prompted the genetic study in 8 of the 9 families. Of 98 relatives available for genotyping, only 53 (54%) agreed to be tested. The compliance was higher in families with sudden death and lower in what appeared to be sporadic HCM or elderly-onset disease. Among the healthy we identified 9 carriers and 19 non-carriers. In 6 individuals the test result resolved an uncertainty about "possible HCM." In several cases the genetic result was also used for family planning and played a role in decisions on cardioverter-defibrillator implantation. Recurrence of a same mutation in different families created an opportunity to apply the information from the literature for risk stratification of individual patients. We suggest that the clinical context determines the indication for genetic testing and interpretation of the results.

  2. [Clinical features of patients with Becker muscular dystrophy and deletions of the rod domain of dystrophin gene].

    Wang, Yanyun; Zhu, Yuling; Yang, Juan; Li, Yaqin; Sun, Jiangwen; Zhan, Yixin; Zhang, Cheng

    2018-02-10

    OBJECTIVE To explore the clinical features of patients carrying deletions of the rod domain of the dystrophin gene. METHODS Clinical data of 12 Chinese patients with Becker muscular dystrophy (BMD) and such deletions was reviewed. RESULTS Most patients complained of muscle weakness of lower limbs. Two patients had muscle cramps, one had increased creatine kinase (CK) level, and one had dilated cardiomyopathy. CONCLUSION Compared with DMD, the clinical features of BMD are much more variable, particularly for those carrying deletions of the rod domain of the dystrophin gene. Muscular weakness may not be the sole complaint of BMD. The diagnosis of BMD cannot be excluded by moderately elevated CK. For male patients with dilated cardiomyopathy, the possibility of BMD should be considered.

  3. Canine dilated cardiomyopathy: a retrospective study of prognostic findings in 367 clinical cases.

    Martin, M W S; Stafford Johnson, M J; Strehlau, G; King, J N

    2010-08-01

    To review the association between clinical signs and diagnostic findings and the survival time of dogs with dilated cardiomyopathy (DCM), and any influence of treatment prescribed. A retrospective observational study of 367 dogs with DCM. Survival times until death or euthanasia for cardiac reasons were analysed using the Kaplan-Meier method plus univariate and multivariate Cox proportional hazards models. Two-tailed P values less than 0.05 were considered statistically significant. In the multivariate model, left ventricular diameter (LVDs)-index (P=0.0067), presence of pulmonary oedema on radiography (P=0.043), presence of ventricular premature complexes (VPCs) (P=0.0012), higher plasma creatinine (P=0.0002), lower plasma protein (P=0.029) and great Dane breed (P=0.0003) were negatively associated with survival. Most dogs were treated with angiotensin-converting enzyme inhibitors (93%) or furosemide (86%), and many received digoxin (50%) and/or pimobendan (30%). Thirteen dogs were lost to follow-up. No conclusions could be made in this study on the association between use of drugs and survival. The LVDs-index was the single best variable for assessing the prognosis in this group of dogs with DCM. Other variables that were negatively associated with survival were presence of pulmonary oedema on radiography, presence of VPCs, higher plasma creatinine, lower plasma protein and great Dane breed.

  4. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice : a position statement of the ESC working group on myocardial and pericardial diseases

    Pinto, Yigal M.; Elliott, Perry M.; Arbustini, Eloisa; Adler, Yehuda; Anastasakis, Aris; Boehm, Michael; Duboc, Denis; Gimeno, Juan; de Groote, Pascal; Imazio, Massimo; Heymans, Stephane; Klingel, Karin; Komajda, Michel; Limongelli, Giuseppe; Linhart, Ales; Mogensen, Jens; Moon, James; Pieper, Petronella G.; Seferovic, Petar M.; Schueler, Stephan; Zamorano, Jose L.; Caforio, Alida L. P.; Charron, Philippe

    2016-01-01

    In this paper the Working Group on Myocardial and Pericardial Disease proposes a revised definition of dilated cardiomyopathy (DCM) in an attempt to bridge the gap between our recent understanding of the disease spectrum and its clinical presentation in relatives, which is key for early diagnosis

  5. Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy.

    Maron, Martin S; Finley, John J; Bos, J Martijn; Hauser, Thomas H; Manning, Warren J; Haas, Tammy S; Lesser, John R; Udelson, James E; Ackerman, Michael J; Maron, Barry J

    2008-10-07

    Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease characterized by a diverse clinical and phenotypic spectrum. This study reports the prevalence, morphology, clinical course, and management of an underrecognized subgroup of HCM patients with left ventricular apical aneurysms. Of 1299 HCM patients, 28 (2%) were identified with left ventricular apical aneurysms, including a pair of identical twins. Aneurysms were recognized at a wide age range (26 to 83 years), including 12 patients (43%) who were rims, and were associated with transmural (and often more extensive) myocardial scarring identified by late gadolinium enhancement cardiovascular magnetic resonance. Apical aneurysms were recognized by echocardiography in only 16 of 28 patients (57%) but by cardiovascular magnetic resonance in the 12 patients undetected by echocardiography. Left ventricular chamber morphology varied; however, 19 patients (68%) showed an "hourglass" contour, with midventricular hypertrophy producing muscular narrowing and intracavitary gradients in 9 patients (74+/-42 mm Hg). Sarcomeric protein missense mutations known to cause other phenotypic expressions of HCM were present in 3 patients. Over 4.1+/-3.7 years of follow-up, 12 patients (43%) with left ventricular apical aneurysms experienced adverse disease complications (event rate, 10.5%/y), including sudden death, appropriate implantable cardioverter-defibrillator discharges, nonfatal thromboembolic stroke, and progressive heart failure and death. Patients with left ventricular apical aneurysms represent an underappreciated subset in the heterogeneous HCM disease spectrum with important clinical implications, often requiring a high index of suspicion and cardiovascular magnetic resonance for identification. Apical aneurysms in HCM are associated with substantial cardiovascular morbidity and mortality and raise novel treatment considerations.

  6. Impact of Preeclampsia on Clinical and Functional Outcomes in Women With Peripartum Cardiomyopathy.

    Lindley, Kathryn J; Conner, Shayna N; Cahill, Alison G; Novak, Eric; Mann, Douglas L

    2017-06-01

    Preeclampsia is a risk factor for the development of peripartum cardiomyopathy (PPCM), but it is unknown whether preeclampsia impacts clinical or left ventricular (LV) functional outcomes. This study sought to assess clinical and functional outcomes in women with PPCM complicated by preeclampsia. This retrospective cohort study included women diagnosed with PPCM delivering at Barnes-Jewish Hospital between 2004 to 2014. The primary outcome was one-year event-free survival rate for the combined end point of death and hospital readmission. The secondary outcome was recovery of LV ejection fraction. Seventeen of 39 women (44%) with PPCM had preeclampsia. The groups had similar mean LV ejection fraction at diagnosis (29.6 with versus 27.3 without preeclampsia; P =0.5). Women with preeclampsia had smaller mean LV end-diastolic diameters (5.2 versus 6.0 cm; P =0.001), greater relative wall thickness (0.41 versus 0.35 mm Hg; P =0.009), and lower incidence of eccentric remodeling (12% versus 48%; P =0.03). Clinical follow-up was available for 32 women; 5 died of cardiovascular complications within 1 year of diagnosis (4/15 with versus 1/17 without preeclampsia; P =0.16). In time to event analysis, patients with preeclampsia had worse event-free survival during 1-year follow-up ( P =0.047). Echocardiographic follow-up was available in 10 survivors with and 16 without preeclampsia. LV ejection fraction recovered in 80% of survivors with versus 25% without preeclampsia ( P =0.014). PPCM with concomitant preeclampsia is associated with increased morbidity and mortality and different patterns of LV remodeling and recovery of LV function when compared with patients with PPCM that is not complicated by preeclampsia. © 2017 American Heart Association, Inc.

  7. Clinical usefulness of Tc-99m hexakis 2-methoxybutyl isonitrile gated SPECT in patients with dilated cardiomyopathy: retrospective analysis

    Khan, Z.R.; Khan, A.Z.

    2010-01-01

    Background: In Dilated cardiomyopathy the heart is enlarged and ventricles are dilated. Gated myocardial perfusion single photon emission computed tomography is considered state of the art for myocardial perfusion imaging. A retrospective analysis was conducted to evaluate patients with dilated cardiomyopathy with Tc-99m sestamibi gated myocardial perfusion single photon emission computed tomography to evaluate its clinical utility. Methods: A 10 year retrospective medical record review was done from 1991 to 2001 at Wake Forest University, North Carolina, USA. Eligibility criteria included a diagnosis of dilated cardiomyopathy and availability of coronary angiography and Tc-99m sestamibi cardiac imaging results. 26 cases were selected for the final review and inclusion in the study. The study was done with standard protocols for cardiac sestamibi imaging. Results: A total of 26 cases were included in the final analysis. Cases were divided into two main groups. Group-A included 16 patients with no correlation between Tc-99m sestamibi and cardiac catheterisation reports. Group-B included 10 patients with good correlation between the above tests. There were no significant differences between the left ventricular ejection fraction, angina history, sex distribution and diabetic status between the two groups. We applied Wilcoxon Signed Rank Test and z-test to quantify the difference between the two groups. Data was tabulated and z-test was performed. The calculated p value was <0.0001. This is significantly less than the tabulated p-value at 5% level of significance, i.e., 1.96. Significant differences exist between Group-A and Group-B. Conclusion: Tc-99m sestamibi is an excellent agent for investigating myocardial perfusion in dilated cardiomyopathy. The reversible and fixed perfusion defects (small to medium sized) seen in dilated cardiomyopathy after performance of Tc-99m sestamibi gated single photon emission computed tomography imaging may not be due to coronary

  8. Clinical Characteristics and Outcomes of Patients with Amphetamine-Associated Cardiomyopathy in South Auckland, New Zealand.

    Kueh, Shaw-Hua Anthony; Gabriel, Ruvin S; Lund, Mayanna; Sutton, Tim; Bradley, Joshua; Kerr, Andrew J; Looi, Jen-Li

    2016-11-01

    Amphetamine-associated cardiomyopathy (AAC) is becoming an increasingly recognised entity. The characteristics and outcomes of these patients are poorly understood. Thirty patients admitted with heart failure and echocardiographic evidence of cardiomyopathy between 2005 and 2014 and who had a documented history of amphetamine abuse that was considered an important factor in the causation of their cardiomyopathy were retrospectively identified. Mean age at presentation was 40±10 years with a male predominance (n=25, 83%). The majority were of indigenous Maori ethnicity. At presentation, four patients were in cardiogenic shock. Five patients required intensive care unit (ICU) admission for inotropic support and mechanical ventilation. Fifteen had severe left ventricular (LV) dilation (mean LV end-diastolic dimension 6.8±1.0cm) and all patients had severe LV dysfunction (mean LV ejection fraction 22±8%). Despite optimal heart failure therapy, LV size remained significantly dilated with minimal improvement in LV function. During median follow-up of 18 months, five patients died from end-stage heart failure and 17 had at least one readmission with decompensated heart failure. Amphetamine-associated cardiomyopathy was seen predominantly in young indigenous Maori men. They presented with severe cardiomyopathy, often requiring ICU admission. Severe LV dilation and significant LV dysfunction persisted despite treatment and mortality was high. Copyright © 2016 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

  9. CASE OF DIAGNOSIS OF APICAL FORM OF HYPERTROPHIC CARDIOMYOPATHY WITH A PATIENT WITH PROGRESSIVE ANGINA CLINIC

    N. S. Krylova

    2015-01-01

    Full Text Available Objective of work: to describe the apical form of hypertrophic cardiomyopathy (AFHC developing under the "mask" of the ischemic heart disease not diagnosed for a long period.Materials and methods. Patient B., 73 y.o., female, was brought to the cardiology department with complains of severe pressing pain behind the breastbone caused with no apparent reason and lasting for over 4 hours. The following examination of the patient was performed: electrocardiography (ECG, echocardiography (EchoCG, Holter ECG monitoring, coronary angiography (CAG, ventriculography.Results. The final diagnosis for the patient was set on the basis of the following readings: ECG data (basic rhythm – atrial fibrillation, left ventricle (LV hypertrophy, negative T-waves in leads V1–6, ST segment depression up to 1–2 mm in leads V4–6, EchoCG (hypertrophy of apical segments of the LV with decreasing of its cavity, moderate dilatation of the left atrium, intraventricular obstruction in the apical third of the LV with the maximum pressure gradient of up to 48 mm Hg., CAG (stenotic lesions of coronary arteries were found, ventriculography (LV volume is not increased, no violations of local contractility, narrowing of the LV cavity in the lower third is observed with thinning in the apex, which indicatesexpressed apical hypertrophy of the LV myocard. AFHC, apical form with moderate obstruction in the lower third of the left ventricle. Stress angina syndrome. CAG and ventriculography were main diagnostic methods that allowed setting the final diagnosis.Conclusion. The clinical case sets forth the peculiarities of diagnostics, therapy, and post-therapy management of patients with this form of AFHC.

  10. Clinical evaluation of sup 123 I-BMIPP myocardial scintigraphy in patients with hypertrophic cardiomyopathy

    Ohtsuki, Katsuichi; Sugihara, Hiroki; Umamoto, Ikuo (Kyoto Prefectural Univ. of Medicine (Japan)) (and others)

    1992-02-01

    {sup 123}I-{beta}-methyl-p-iodophenylpentadecanoic acid ({sup 123}I-BMIPP) myocardial scintigraphy was performed in 13 patients with hypertrophic cardiomyopathy and compared with {sup 201}Tl myocardial scintigraphy performed within 3 months for evaluating the clinical significance of {sup 123}I-BMIPP myocardial scintigraphy. SPECT images were divided into 13 segments and segmental images were visually scored on a 4 (increased tracer uptake) to 0 (severely decreased tracer uptake) scale according to the tracer uptake. In comparison of {sup 123}I-BMIPP early images and {sup 201}Tl perfusion images, mismatches were seen in about 70% of all segments. The number of segments demonstrating lower myocardial uptake of {sup 123}I-BMIPP was larger than that of {sup 201}Tl. In hypertrophic regions, the tracer uptake of {sup 123}I-BMIPP early images was significantly lower than that of {sup 201}Tl images and the lower uptake of {sup 123}I-BMIPP delayed images was more marked. In non-hypertrophic regions, no significant difference was seen between the tracer uptakes of {sup 123}I-BMIPP early images and {sup 201}Tl images but the tracer uptake of {sup 123}I-BMIPP delayed images was significantly lower than that of {sup 201}Tl images. The mismatch between the tracer uptakes of {sup 123}I-BMIPP images and {sup 201}Tl images was thought to be a reflection of disordered myocardial fatty acid metabolism. 'Washout', the difference between the tracer uptakes of {sup 123}I-BMIPP early images and delayed images was also thought to be a reflection of disordered myocardial fatty acid metabolism. These results suggest that {sup 123}I-BMIPP is a promising radiopharmaceutical for evaluating disordered myocardial fatty acid metabolism in patients with HCM. (author).

  11. Clinical evaluation of 123I-BMIPP myocardial scintigraphy in patients with hypertrophic cardiomyopathy

    Ohtsuki, Katsuichi; Sugihara, Hiroki; Umamoto, Ikuo

    1992-01-01

    123 I-β-methyl-p-iodophenylpentadecanoic acid ( 123 I-BMIPP) myocardial scintigraphy was performed in 13 patients with hypertrophic cardiomyopathy and compared with 201 Tl myocardial scintigraphy performed within 3 months for evaluating the clinical significance of 123 I-BMIPP myocardial scintigraphy. SPECT images were divided into 13 segments and segmental images were visually scored on a 4 (increased tracer uptake) to 0 (severely decreased tracer uptake) scale according to the tracer uptake. In comparison of 123 I-BMIPP early images and 201 Tl perfusion images, mismatches were seen in about 70% of all segments. The number of segments demonstrating lower myocardial uptake of 123 I-BMIPP was larger than that of 201 Tl. In hypertrophic regions, the tracer uptake of 123 I-BMIPP early images was significantly lower than that of 201 Tl images and the lower uptake of 123 I-BMIPP delayed images was more marked. In non-hypertrophic regions, no significant difference was seen between the tracer uptakes of 123 I-BMIPP early images and 201 Tl images but the tracer uptake of 123 I-BMIPP delayed images was significantly lower than that of 201 Tl images. The mismatch between the tracer uptakes of 123 I-BMIPP images and 201 Tl images was thought to be a reflection of disordered myocardial fatty acid metabolism. 'Washout', the difference between the tracer uptakes of 123 I-BMIPP early images and delayed images was also thought to be a reflection of disordered myocardial fatty acid metabolism. These results suggest that 123 I-BMIPP is a promising radiopharmaceutical for evaluating disordered myocardial fatty acid metabolism in patients with HCM. (author)

  12. Clinical Spectrum and Management of Heart Failure in Hypertrophic Cardiomyopathy.

    Maron, Barry J; Rowin, Ethan J; Udelson, James E; Maron, Martin S

    2018-05-01

    Heart failure (HF), characterized by excessive exertional dyspnea, is a common complication within the broad clinical spectrum of hypertrophic cardiomyopathy (HCM). HF has become an increasingly prominent management issue with the reduction in sudden deaths due to use of implantable defibrillators in this disease. Exertional dyspnea ranges in severity from mild to severe (New York Heart Association functional classes II to IV) and not uncommonly becomes refractory to medical management, leading to progressive disability, but largely in the absence of pulmonary congestion and volume overload requiring hospitalization. HCM-related HF is most commonly due to dynamic mechanical impedance to left ventricular outflow produced by mitral valve systolic anterior motion, leading to high intracavity pressures. Surgical septal myectomy with low operative mortality (<1%) produces HF reversal and symptom relief in 90% to 95% of patients, while also conveying a survival benefit. Exercise echocardiography has assumed an important role in the evaluation of patients with HCM, i.e., by identifying candidates for septal reduction therapy with refractory HF when outflow gradients are present only with physiological exercise, distinguishing highly symptomatic nonobstructive patients as heart transplant candidates, and predicting future development of progressive HF. Notably, mortality directly attributable to HF has become exceedingly uncommon in HCM (<0.5%/year) in contrast with HF in non-HCM diseases (by 20-fold). In conclusion, HF in HCM is associated with diverse and complex pathophysiology, but a substantially more favorable prognosis than conventional non-HCM HF, and highly amenable to effective treatment options in the vast majority of patients. Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  13. Clinical characteristics of patients from the worldwide registry on peripartum cardiomyopathy (PPCM)

    Sliwa, Karen; Mebazaa, Alexandre; Hilfiker-Kleiner, Denise; Petrie, Mark C.; Maggioni, Aldo P.; Laroche, Cecile; Regitz-Zagrosek, Vera; Schaufelberger, Maria; Tavazzi, Luigi; van der Meer, Peter; Roos-Hesselink, JolienW.; Seferovic, Petar; van Spandonck-Zwarts, Karin; Mbakwem, Amam; Boehm, Michael; Mouquet, Frederic; Pieske, Burkert; Hall, Roger; Ponikowski, Piotre; Bauersachs, Johann

    Aims: The purpose of this study is to describe disease presentation, co-morbidities, diagnosis and initial therapeutic management of patients with peripartum cardiomyopathy (PPCM) living in countries belonging to the European Society of Cardiology (ESC) vs. non-ESC countries. Methods and results:

  14. Clinical and Echocardiographic Evaluation of Regional Systolic Function Detected by Tissue Doppler Imaging in Hypertrophic Cardiomyopathy

    A Sadeghpour

    2009-09-01

    Full Text Available Background: Hypertrophic cardiomyopathy (HCM is the most common type of the genetic cardiovasculardiseases. Regarding to tremendous heterogeneity in the phenotypic expression of HCM, which is generally unrelatedto genotype, we aimed to study, clinical and echocardiographic parameters such as Tissue Doppler Imaging(TDI in various subtypes of HCM patients and evaluate the influence of race and gender in Iranian patients.Methods: Patients with HCM underwent a complete clinical and echocardiographic study including TDI toassess regional systolic contraction( in the 12 segments and early diastolic annular velocity (Em from theseptal mitral annulus.Results: The study comprised 41 patients (20 women, mean age = 41 ± 15 years with mean LVEF 55%±4.8%and mean maximal septal thickness 2.07cm. Considering LVOT gradient>30mmHg, hypertrophic obstructivecardiomyopathy (HOCM was found in 18 (45%. Asymmetric septal hypertrophy (ASH existed in 27 patients(67%, systolic anterior motion of anterior mitral leaflet (SAM in 25 persons (64%. Nineteen patients (46.3%were included in NYHA function class (FC II and 6 (14.7% in FC III or higher. We found syncope in 10(24.4%, chest pain in 4 (9.8%, atrial fibrilation in 14.6 % and ventricular arrhythmias in (17.1% of patients.History of ICD was seen in 7 (17.1% and PPM in 9 cases. Mean E’ velocity was 5.44± 1.65 cm/sec and S velocity5.70± 1.49 cm/sec with significant lower S velocity and E’ in syncope patients. Overall, HOCM patients hadgrade II diastolic dysfunction with E/É >15(17.54±7.46. Majority (25 of cases (61% were categorized in typeIII of HCM. RV involvement was observed in 11 patients (28.2%.No significant differences existed betweenprevalence of syncope and dysrhythmia among HCM and HOCM patients.Conclusion: In our study, we found lower detection of latent HOCM, compared to other studies, suggestive ofinadequate use of appropriate provocative maneuvers such as exercise stress echocardiography and amyl

  15. Dilated cardiomyopathy

    Salvatore, M.; Cuocolo, A.

    1988-01-01

    Radionuclide techniques are easily obtainable, noninvasive examinations that provide useful information in the evaluation, diagnosis and management of patients with dilated cardiomyopathy. The gated blood pool scan allows the assessment of ventricular size, configuration, and wall and septal thickness. These data allow the functional class of the cardiomyopathy (congestive, restrictive or hypertrophic) to be defined. Often THallium-201 myocardial perfusion imaging adds further information and is particularly useful in distinguishing congestive cardiomyopathy from severe coronary artery disease and in depicting septal abnormalities in hipertrophic cardiomyopathy. Useful as these techniques are, they are not substitutes for conventional approaches to diagnosis. Careful history taking and physical examination, as well as scrutiny of the electrocardiogram, chest X-ray and echocardiogram should be standard practice for the evaluation of patients with suspected cardiomyopathy. Judicious use of noninvasive techniques may obviate the need for cardiac catheterization in many patients

  16. Juvenile myoclonic epilepsy: clinical and EEG features

    Pedersen, S B; Petersen, K A

    1998-01-01

    We aimed to characterize the clinical profile and EEG features of 43 patients with juvenile myoclonic epilepsy. In a retrospective design we studied the records of, and re-interviewed, 43 patients diagnosed with JME from the epilepsy clinic data base. Furthermore, available EEGs were re...... were sleep deprivation (84%), stress (70%), and alcohol consumption (51%). EEG findings included rapid spike-wave and polyspike-wave....

  17. Juvenile myoclonic epilepsy: clinical and EEG features

    Pedersen, S B; Petersen, K A

    1998-01-01

    We aimed to characterize the clinical profile and EEG features of 43 patients with juvenile myoclonic epilepsy. In a retrospective design we studied the records of, and re-interviewed, 43 patients diagnosed with JME from the epilepsy clinic data base. Furthermore, available EEGs were re-evaluated...... were sleep deprivation (84%), stress (70%), and alcohol consumption (51%). EEG findings included rapid spike-wave and polyspike-wave....

  18. High-Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease.

    Seydelmann, Nora; Liu, Dan; Krämer, Johannes; Drechsler, Christiane; Hu, Kai; Nordbeck, Peter; Schneider, Andreas; Störk, Stefan; Bijnens, Bart; Ertl, Georg; Wanner, Christoph; Weidemann, Frank

    2016-05-31

    High-sensitivity troponin (hs-TNT), a biomarker of myocardial damage, might be useful for assessing fibrosis in Fabry cardiomyopathy. We performed a prospective analysis of hs-TNT as a biomarker for myocardial changes in Fabry patients and a retrospective longitudinal follow-up study to assess longitudinal hs-TNT changes relative to fibrosis and cardiomyopathy progression. For the prospective analysis, hs-TNT from 75 consecutive patients with genetically confirmed Fabry disease was analyzed relative to typical Fabry-associated echocardiographic findings and total myocardial fibrosis as measured by late gadolinium enhancement (LE) on magnetic resonance imaging. Longitudinal data (3.9±2.0 years), including hs-TNT, LE, and echocardiographic findings from 58 Fabry patients, were retrospectively collected. Hs-TNT level positively correlated with LE (linear correlation coefficient, 0.72; odds ratio, 32.81 [95% CI, 3.56-302.59]; P=0.002); patients with elevated baseline hs-TNT (>14 ng/L) showed significantly increased LE (median: baseline, 1.9 [1.1-3.3] %; follow-up, 3.2 [2.3-4.9] %; PFabry disease and a qualified predictor of cardiomyopathy progression. Thus, hs-TNT could be helpful for staging and follow-up of Fabry patients. © 2016 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  19. Stress Induced Cardiomyopathy Triggered by Acute Myocardial Infarction: A Case Series Challenging the Mayo Clinic Definition.

    Christodoulidis, Georgios; Kundoor, Vishwa; Kaluski, Edo

    2017-08-28

    BACKGROUND Various physical and emotional factors have been previously described as triggers for stress induced cardiomyopathy. However, acute myocardial infarction as a trigger has never been reported. CASE REPORT We describe four patients who presented with an acute myocardial infarction, in whom the initial echocardiography revealed wall motion abnormalities extending beyond the coronary distribution of the infarct artery. Of the four patients identified, the mean age was 59 years; three patients were women and two patients had underlying psychiatric history. Electrocardiogram revealed ST elevation in the anterior leads in three patients; QTc was prolonged in all cases. All patients had ≤ moderately elevated troponin. Single culprit lesion was found uniformly in the proximal or mid left anterior descending artery. Initial echocardiography revealed severely reduced ejection fraction with relative sparing of the basal segments, whereas early repeat echocardiography revealed significant improvement in the left ventricular function in all patients. CONCLUSIONS This is the first case series demonstrating that acute myocardial infarction can trigger stress induced cardiomyopathy. Extensive reversible wall motion abnormalities, beyond the ones expected from angiography, accompanied by modest elevation in troponin and marked QTc prolongation, suggest superimposed stress induced cardiomyopathy.

  20. Clinical Features of Osteogenesis Imperfecta in Taiwan

    Hsiang-Yu Lin

    2009-07-01

    Conclusion: Nine of the 11 clinical features examined—height, weight, BMD, dentinogenesis imperfecta, bone deformity, scoliosis, walking ability, fracture rate, and family history—were significantly different among the three types of OI patients. This finding may be of help in evaluating patients and establishing their prognosis.

  1. Clinical Electrocardiographic and Echocardiographic Features of ...

    Clinical Electrocardiographic and Echocardiographic Features of Atrial Fibrillation in Nigerians: An Analysis of 39 Patients Seen at the Lagos University Teaching Hospital. ... Congestive cardiac failure was present in 74% of the subjects with a mean NYHA class of about III. Embolic phenomenon was observed in 15% of the ...

  2. Mitochondrial Diseases: Clinical Features- Management of Patients

    Filiz Koc

    2003-02-01

    Full Text Available Mitochondria are unique organells which their own DNA in cells. Human mitochondrial DNA is circular, double-stranded molecule and small. Because all mitochondria are contributed by the ovum during the formation of the zygote, the mitochondrial genom is transmitted by maternal inheritance. Multisystem disorders such as deafness, cardiomyopathy, miyopathy can be seen in mitochondrial diseases. [Archives Medical Review Journal 2003; 12(0.100: 14-31

  3. Peripartum cardiomyopathy

    Velasquez V, Jorge E; Duque R, Mauricio

    2008-01-01

    Peripartum cardiomyopathy is a clinical entity with a variable frequency according to the zone of the study. It is characterized by a systolic dysfunction of the left ventricle and posterior appearance of heart failure symptoms that occur during the last month of pregnancy and the first post-partum months. Its etiology isn't still clear, but different theories are proposed based on inflammatory, infectious and autoimmune processes. Alterations related to oxidative stress that could largely explain this pathology were recently described. Its clinical presentation has a big similitude with all other causes of heart failure although atypical presentations have been described. Its diagnosis requires a high suspicion level and must be considered in any woman with symptoms of heart failure during the peripartum. The conventional treatment of chronic heart failure that includes beta-blockers, angiotensin converting enzyme inhibitors and diuretics, in addition to the advances in diagnosis and management of acute heart failure, allowed changing the history of the disease by lowering mortality and recovering systolic function of the left ventricle. Gestations posterior to the development of this entity will depend on the complete recovery of heart function without lowering the risk of recurrence. There still remain many questions to answer in areas like etiology, risk factors, treatment and prognosis markers that may allow to prevent and to manage in an appropriate and safe way both the mother and her son.

  4. Novel clinical features of nonconvulsive status epilepticus

    Nagayama, Masao; Yang, Sunghoon; Geocadin, Romergryko G.; Kaplan, Peter W.; Hoshiyama, Eisei; Shiromaru-Sugimoto, Azusa; Kawamura, Mitsuru

    2017-01-01

    Nonconvulsive status epilepticus (NCSE) has rapidly expanded from classical features such as staring, repetitive blinking, chewing, swallowing, and automatism to include coma, prolonged apnea, cardiac arrest, dementia, and higher brain dysfunction, which were demonstrated mainly after the 2000s by us and other groups. This review details novel clinical features of NCSE as a manifestation of epilepsy, but one that is underdiagnosed, with the best available evidence. Also, we describe the new concept of epilepsy-related organ dysfunction (Epi-ROD) and a novel electrode and headset which enables prompt electroencephalography. PMID:28979770

  5. Restrictive cardiomyopathy

    ... People with restrictive cardiomyopathy may be heart transplant candidates. The outlook depends on the cause of the ... www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. ...

  6. Peripartum Cardiomyopathy

    ... short- ness of breath, and palpitations. •  Electrocardiogram (heart tracing) to assess heart rate and rhythm, to look ... Accessed January 22, 2013. The Peripartum Cardiomyopathy Network Web site. http: / / www. peripartumcmnetwork. pitt. edu. Accessed January ...

  7. Mitochondrial cardiomyopathies

    Ayman W. El-Hattab

    2016-07-01

    Full Text Available Mitochondria are found in all nucleated human cells and perform a variety of essential functions, including the generation of cellular energy. Mitochondria are under dual genome control. Only a small fraction of their proteins are encoded by mitochondrial DNA (mtDNA while more than 99% of them are encoded by nuclear DNA (nDNA. Mutations in mtDNA or mitochondria-related nDNA genes result in mitochondrial dysfunction leading to insufficient energy production required to meet the needs of various organs, particularly those with high energy requirements, including the central nervous system, skeletal and cardiac muscles, kidneys, liver, and endocrine system. Because cardiac muscles are one of the high energy demanding tissues, cardiac involvement occurs in mitochondrial diseases with cardiomyopathies being one of the most frequent cardiac manifestations found in these disorders. Cardiomyopathy is estimated to occur in 20-40% of children with mitochondrial diseases. Mitochondrial cardiomyopathies can vary in severity from asymptomatic status to severe manifestations including heart failure, arrhythmias, and sudden cardiac death. Hypertrophic cardiomyopathy is the most common type; however, mitochondrial cardiomyopathies might also present as dilated, restrictive, left ventricular noncompaction, and histiocytoid cardiomyopathies. Cardiomyopathies are frequent manifestations of mitochondrial diseases associated with defects in electron transport chain (ETC complexes subunits and their assembly factors, mitochondrial tRNAs, rRNAs, ribosomal proteins, and translation factors, mtDNA maintenance, and coenzyme Q10 synthesis. Other mitochondrial diseases with cardiomyopathies include Barth syndrome, Sengers syndrome, TMEM70-related mitochondrial complex V deficiency, and Friedreich ataxia.

  8. Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression.

    Sen-Chowdhry, Srijita

    2007-04-03

    According to clinical-pathological correlation studies, the natural history of arrhythmogenic right ventricular dysplasia\\/cardiomyopathy is purported to progress from localized to global right ventricular dysfunction, followed by left ventricular (LV) involvement and biventricular pump failure. The inevitable focus on sudden death victims and transplant recipients may, however, have created a skewed perspective of a genetic disease. We hypothesized that unbiased representation of the spectrum of disease expression in arrhythmogenic right ventricular dysplasia\\/cardiomyopathy would require in vivo assessment of families in a genetically heterogeneous population.

  9. Barrett's esophagus: clinical features, obesity, and imaging.

    Quigley, Eamonn M M

    2011-09-01

    The following includes commentaries on clinical features and imaging of Barrett\\'s esophagus (BE); the clinical factors that influence the development of BE; the influence of body fat distribution and central obesity; the role of adipocytokines and proinflammatory markers in carcinogenesis; the role of body mass index (BMI) in healing of Barrett\\'s epithelium; the role of surgery in prevention of carcinogenesis in BE; the importance of double-contrast esophagography and cross-sectional images of the esophagus; and the value of positron emission tomography\\/computed tomography.

  10. Delayed-enhancement MRI of apical hypertrophic cardiomyopathy: assessment of the intramural distribution and comparison with clinical symptoms, ventricular arrhythmias, and cine MRI

    Amano, Yasuo; Fukushima, Yoshimitsu; Kumita, Shinichiro; Takayama, Morimasa; Kitamura, Mitsunobu

    2011-01-01

    Background: Hypertrophic cardiomyopathy (HCM) is reported to show patchy midwall myocardial hyper enhancement on delayed-enhancement magnetic resonance imaging (DE-MRI). The intramural distribution of myocardial hyper enhancement and its correlation with clinical symptoms, ventricular arrhythmias, and cardiac function have not been described for symptomatic apical HCM. Purpose: To evaluate the features and significance of myocardial hyper enhancement on DE-MRI in symptomatic apical HCM. Material and Methods: Thirteen patients with symptomatic apical HCM and their 65 apical segments were investigated. Myocardial hyper enhancement and regional and global functional parameters were determined with MRI. We investigated the intramural distribution and frequencies of this myocardial hyper enhancement and compared them with the patients' clinical symptoms, the presence of ventricular arrhythmias, and cine MRI. Results: Eight (61.5%) patients with symptomatic apical HCM displayed apical myocardial hyper enhancement, and 22 (33.8%) of the 65 apical segments examined showed myocardial hyper enhancement. Of the myocardial hyper enhancement observed, 81.8% showed a subendocardial pattern.The Hyperenhanced apical myocardium had a lower percentage of systolic myocardial thickening, and was associated with serious symptoms (e.g. syncope) and ventricular arrhythmias. Conclusion: Patients with symptomatic apical HCM showed myocardial hyper enhancement involving the subendocardial layer, which might be related to regional systolic dysfunction, serious clinical symptoms, and ventricular arrhythmias

  11. ANMCO/GICR-IACPR/SICI-GISE Consensus Document: the clinical management of chronic ischaemic cardiomyopathy

    Gulizia, Michele Massimo; Colivicchi, Furio; Di Lenarda, Andrea; Musumeci, Giuseppe; Faggiano, Pompilio Massimo; Abrignani, Maurizio Giuseppe; Rossini, Roberta; Fattirolli, Francesco; Valente, Serafina; Mureddu, Gian Francesco; Temporelli, Pier Luigi; Olivari, Zoran; Amico, Antonio Francesco; Casolo, Giancarlo; Fresco, Claudio; Menozzi, Alberto; Nardi, Federico

    2017-01-01

    Stable coronary artery disease (CAD) is a clinical entity of great epidemiological importance. It is becoming increasingly common due to the longer life expectancy, being strictly related to age and to advances in diagnostic techniques and pharmacological and non-pharmacological interventions. Stable CAD encompasses a variety of clinical and anatomic presentations, making the identification of its clinical and anatomical features challenging. Therapeutic interventions should be defined on an individual basis according to the patient’s risk profile. To this aim, management flow charts have been reviewed based on sustainability and appropriateness derived from recent evidence. Special emphasis has been placed on non-pharmacological interventions, stressing the importance of lifestyle changes, including smoking cessation, regular physical activity, and diet. Adherence to therapy as an emerging risk factor is also discussed. PMID:28533729

  12. Pacing-induced Cardiomyopathy

    Alex Koo

    2017-10-01

    Full Text Available We present a case of pacing-induced cardiomyopathy. The patient presented with clinical symptoms of dyspnea, leg swelling, and orthopnea several months after a dual-chambered pacemaker was placed for third-degree heart block. The echocardiogram demonstrated a depressed ejection fraction. Coronary angiography was performed, which showed widely patent vessels. Single- and dual-chambered pacemakers create ventricular dyssynchrony, which in turn can cause structural, molecular changes leading to cardiomyopathy. With early intervention of biventricular pacemaker replacement, these changes can be reversible; thus, a timely diagnosis and awareness is warranted.

  13. Microfibrillar cardiomyopathy: A rare case

    Narender Kumar

    2011-01-01

    Full Text Available Microfibrillar cardiomyopathy is a very rare cause of restrictive cardiomyopathy (RCM. The index case was a male patient who presented with shortness of breath and pedal edema. Further clinical investigations favored a clinical diagnosis of RCM. An endomyocardial biopsy revealed subendocardial and interstitial hyaline eosinophillic material resembling amyloid that did not stain with Congo red. An electron microscopic examination showed that this material was composed of twisted linear and bundles of tangled microfibrils. The etiology of the microfibrillar deposition is currently unknown. The pathologists should entertain the diagnosis of microfibrillar cardiomyopathy in suspected cases of amyloidosis that are negative for Congo red.

  14. Clinical features of symptomatic patellofemoral joint osteoarthritis

    2012-01-01

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

  15. Pneumatosis intestinalis: CT findings and clinical features

    Kim, Hye Lin; Lee, Hae Kyung; Park, Seong Jin; Yi, Boem Ha; Ko, Bong Min; Hong, Hyun Sook; Paik, Sang Hyun [Soonchunhyang University Hospital Bucheon, Bucheon (Korea, Republic of)

    2008-02-15

    The purpose of this study is to evaluate the CT findings and clinical features of patients with pneumatosis intestinalis. From January 2001 to October 2007, 15 patients with pneumatosis intestinalis were diagnosed by the use of CT. We analyzed the clinical features and CT findings to assess the involvement site, the presence of portal and mesenteric vein gas, and the existence of accompanied ischemic change. Of the 15 patients, five patients had end stage renal disease (33.3%), two patients underwent a gastrectomy, one patient underwent a laminectomy, one patient had tuberculous enteritis, one patient had lung cancer and one patient had pneumonia. Four patients presented with no specific disease. There was portal or mesenteric venous gas in six cases, and strangulation or an ischemic change of the bowel in five cases. Otherwise, pneumatosis intestinalis was associated with hydropneumoperitoneum in two cases, pneumoperitoneum in one case and a single case of perforated appendicitis. Nine patients underwent surgery for ischemic change of the bowel, pneumoperitoneum, appendicitis, and a clinical sign of panperitonitis. Among the remaining six patients, three patients recovered and were discharged, and three patients expired during progression of the disease. End stage renal disease is the most common condition associated with pneumatosis intestinalis. The presence of portomesenteric venous gas, ischemic change of the bowel, and linear pneumatosis intestinalis are indicative of a poor prognosis.

  16. Clinical and pathologic findings of myocarditis in two families with dilated cardiomyopathy

    O'Connell, J.B.; Fowles, R.E.; Robinson, J.A.; Subramanian, R.; Henkin, R.E.; Gunnar, R.M.

    1984-01-01

    The use of endomyocardial biopsy and gallium-67 scans in patients with dilated cardiomyopathy (DCM) has demonstrated the presence of myocardial inflammation in a subset of patients. A family with DCM was studied with endomyocardial biopsy and gallium-67 scanning; both identified the presence of myocarditis in the proband. Evaluation of histologic sections from deceased family members revealed myocarditis as the principal pathologic finding. This patient identified during life demonstrated a defect in suppressor lymphocytic function and improved with immunosuppressive therapy. A second family with DCM was discovered when postmortem examination of the proband and his father's heart showed myocarditis. A living sibling was identified with asymptomatic myocardial dysfunction. Longitudinal follow-up of surviving members of both families are in progress. This study indicates that thorough diagnostic evaluation of all patients with familial DCM should be pursued to identify subgroups with potentially treatable inflammation

  17. Neuromyelitis optica: clinical features, immunopathogenesis and treatment

    Jarius, S; Wildemann, B; Paul, F

    2014-01-01

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

  18. Main clinical epidemiological features of lung cancer

    Costa Montane, Daniel Marino; Prado Lage, Yulien; Lozano Salazar; Jorge Luis

    2011-01-01

    A descriptive and cross-sectional study of 95 patients with lung cancer, discharged from Neumology Service at 'Dr Juan Bruno Zayas Alfonso' General Hospital in Santiago de Cuba, was carried out from January, 2008 to December, 2008 in order to identify the main clinical epidemiological features of the aforementioned disease. A malignancy predominance among men aged between 56 and 65 years old, belonging to urban areas and being heavy smoker (out of 30 cigarettes per day over 30 years ), was found. Those affected without a confirmed histological type and IV clinical stage epidermoid carcinoma were predominant. Most of them had the opportunity to be treated. Increasing and intensifying health promotion and disease prevention campaigns were recommended so as to achieve the population to avoid or quit the smoking habit. (author)

  19. Clinical features of measles pneumonia in adults

    Tanaka, Hiroshi; Honma, Shin-ichi; Yamagishi, Masahiko; Honda, Yasuhito; Abe, Shosaku; Igarashi, Tomofumi; Sekine, Kyuichiro.

    1993-01-01

    The clinical features, chest radiographs and computed tomographic (CT) images were evaluated in 11 cases of serologically proved adult measles complicated with pneumonia (10 were previously healthy and one had sarcoidosis). Pneumonia appeared during the rash period in all cases. Respiratory symptoms were cough (9/11), dyspnea (3/11), and hypoxemia (10/11). Pneumonia manifestations were detected in only 4 cases by chest radiograph; on the other hand, they were seen in all cases by CT scan and consisted of ground-glass opacities (73%), nodular opacities (64%) and consolidation (27%). CT seems to be useful method to detect measles pneumonia if it is suspected. Measles pneumonia in previously healthy patients had a good prognosis, as the hypoxemia disappeared within 6 days in all cases. The sarcoidosis patient showed prolonged pneumonic shadows and period of hypoxemia. Measles pneumonia occurring in a host with cellular immunodeficiency may have a severe clinical course. (author)

  20. Restrictive Cardiomyopathy

    ... up in the circulatory system. In time, the heart fails. What causes it? Restrictive cardiomyopathy is often caused by diseases in other parts of the body. One known cause is cardiac ... build up in the heart tissue, making the tissue stiff and thickened. Cardiac ...

  1. Diabetic Cardiomyopathy: Bench to Bedside

    Schilling, Joel D.; Mann, Douglas L.

    2012-01-01

    The study of diabetic cardiomyopathy (diabetic CM) is an area of significant interest given the strong association between diabetes and the risk of heart failure. Many unanswered questions remain regarding the clinical definition and pathogenesis of this metabolic cardiomyopathy. This article reviews the current understanding of diabetic CM with a particular emphasis on the unresolved issues that have limited translation of scientific discovery to patient bedside. PMID:22999244

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

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

    2016-01-01

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

  3. [Dilated cardiomyopathy (DCM) in dogs--pathological, clinical, diagnosis and genetic aspects].

    Broschk, C; Distl, O

    2005-10-01

    Dilated cardiomyopathy (DCM) is a heart disease which is often found in humans and animals. The age of onset of this progressive disease varies between 3 and 7 years of age. A juvenile form of DCM has been found in Portuguese Water Dogs and Doberman Pinscher Dogs. Some breeds such as Doberman pinscher, Newfoundland, Portuguese Water dog, Boxer, Great Dane, Cocker Spaniel and Irish Wolfhound exhibit a higher prevalence to DCM. There also seems to be a sex predisposition as male dogs are affected more often than female dogs and in Great Danes an X-linked recessive inheritance is likely. In Newfoundland and Boxer an autosomal dominant inheritance was found whereas an autosomal recessive inheritance was described in Portuguese Water Dogs. Atrial fibrillation as a cause or consequence of DCM is assumed for certain breeds. The causes of DCM are widely unknown in dogs. A genetic basis for this heart disease seems to exist. Apart from a few exceptions the mode of inheritance and the possible underlying gene mutations are not known for DCM in dogs. In humans mutations in several genes responsible for DCM have been identified. Comparative genetic analyses in dogs using genes causing DCM in men and a genome-wide scan with anonymus markers were not able to detect causative mutations or genomic regions harboring gene loci linked to DCM. The investigation of the genetic basis of canine DCM may lead to new insights into the pathogenesis of DCM and may result in new therapeutic approaches and breeding strategies.

  4. Cardiomyopathy in neurological disorders.

    Finsterer, Josef; Stöllberger, Claudia; Wahbi, Karim

    2013-01-01

    According to the American Heart Association, cardiomyopathies are classified as primary (solely or predominantly confined to heart muscle), secondary (those showing pathological myocardial involvement as part of a neuromuscular disorder) and those in which cardiomyopathy is the first/predominant manifestation of a neuromuscular disorder. Cardiomyopathies may be further classified as hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, or unclassified cardiomyopathy (noncompaction, Takotsubo-cardiomyopathy). This review focuses on secondary cardiomyopathies and those in which cardiomyopathy is the predominant manifestation of a myopathy. Any of them may cause neurological disease, and any of them may be a manifestation of a neurological disorder. Neurological disease most frequently caused by cardiomyopathies is ischemic stroke, followed by transitory ischemic attack, syncope, or vertigo. Neurological disease, which most frequently manifests with cardiomyopathies are the neuromuscular disorders. Most commonly associated with cardiomyopathies are muscular dystrophies, myofibrillar myopathies, congenital myopathies and metabolic myopathies. Management of neurological disease caused by cardiomyopathies is not at variance from the same neurological disorders due to other causes. Management of secondary cardiomyopathies is not different from that of cardiomyopathies due to other causes either. Patients with neuromuscular disorders require early cardiologic investigations and close follow-ups, patients with cardiomyopathies require neurological investigation and avoidance of muscle toxic medication if a neuromuscular disorder is diagnosed. Which patients with cardiomyopathy profit most from primary stroke prevention is unsolved and requires further investigations. Copyright © 2013 Elsevier Inc. All rights reserved.

  5. Clinical mastitis in ewes; bacteriology, epidemiology and clinical features

    Kvitle Bjørg

    2007-09-01

    Full Text Available Abstract Background Clinical mastitis is an important disease in sheep. The objective of this work was to identify causal bacteria and study certain epidemiological and clinical features of clinical mastitis in ewes kept for meat and wool production. Methods The study included 509 ewes with clinical mastitis from 353 flocks located in 14 of the 19 counties in Norway. Clinical examination and collection of udder secretions were carried out by veterinarians. Pulsed-field gel electrophoresis (PFGE was performed on 92 Staphylococcus aureus isolates from 64 ewes. Results and conclusion S. aureus was recovered from 65.3% of 547 clinically affected mammary glands, coagulase-negative staphylococci from 2.9%, enterobacteria, mainly Escherichia coli, from 7.3%, Streptococcus spp. from 4.6%, Mannheimia haemolytica from 1.8% and various other bacteria from 4.9%, while no bacteria were cultured from 13.2% of the samples. Forty percent of the ewes with unilateral clinical S. aureus mastitis also had a subclinical S. aureus infection in the other mammary gland. Twenty-four of 28 (86% pairs of S. aureus isolates obtained from clinically and subclinically affected mammary glands of the same ewe were indistinguishable by PFGE. The number of identical pairs was significantly greater than expected, based on the distribution of different S. aureus types within the flocks. One-third of the cases occurred during the first week after lambing, while a second peak was observed in the third week of lactation. Gangrene was present in 8.8% of the clinically affected glands; S. aureus was recovered from 72.9%, Clostridium perfringens from 6.3% and E. coli from 6.3% of the secretions from such glands. This study shows that S. aureus predominates as a cause of clinical ovine mastitis in Norway, also in very severe cases. Results also indicate that S. aureus is frequently spread between udder halves of infected ewes.

  6. Clinical features of multiple spontaneous intracerebral hemorrhages

    Tao CHANG

    2016-01-01

    Full Text Available Objective To analyze the clinical features of multiple spontaneous intracerebral hemorrhages (MICH. Methods Conservative therapy, puncture and drainage, hematoma removal and/or decompressive craniectomy were used in the treatment of 630 intracerebral hemorrhage (ICH patients, who were divided into 2 groups: 30 cases with MICH and another 600 cases with solitary intracerebral hemorrhage (SICH. Three months after onset, modified Rankin Scale (mRS was used to evaluate the prognosis of all cases. Results Compared with patients in SICH group, the occurrence rate of hypertension > 5 years (P = 0.008, diabetes mellitus (P = 0.024, hypercholesterolemia (P = 0.050 and previous ischemic stroke (P = 0.026 were all significantly higher in MICH group. The mean arterial pressure (MAP level (P = 0.002 and the incidence of limb movement disorder (P = 0.000 were significantly higher in patients with MICH than those with SICH. Basal ganglia and thalamus were the predilection sites of hematoma (P = 0.001. Patients with MICH had worse prognosis compared to those with SICH 3 months after onset (P = 0.006. Conclusions Hypertension > 5 years, diabetes mellitus, hypercholesterolemia and ischemic stroke were identified to be the pathophysiological basis of MICH in this study. All patients with MICH had more serious clinical manifestations after onset and worse prognosis. DOI: 10.3969/j.issn.1672-6731.2016.01.008

  7. [Clinical and pathogenetic features of esophageal spasm].

    Firsova, L D; Pichugina, I M; Yanova, O B; Berezina, O I; Bordin, D S

    2015-01-01

    To comparatively analyze clinical manifestations in patients with primary esophageal spasm (ES) and its concurrence with gastroesophageal reflux disease (GERD) and the results of their instrumental examinations and psychodiagnostic tests. A total of 104 patients with the clinical and manometric signs of ES were examined and divided into two groups: 1) 42 patients with primary ES; 2) 62 patients with ES concurrent with GERD. The examination encompassed esophageal manometry, esophagogastroduodenoscopy, 24-hour pH metry, and an interview using a questionnaire to identify autonomic disorders, and the Mini-Mult test. The patients with primary ES compared to those with ES concurrent with GERD significantly more frequently showed severe pain syndrome (p = 0.009) and a paradoxical dysphagia pattern (p = 0.03); manometry revealed an incoordination in the motility of the entire esophagus (p = 0.001). Comparison of the statistical series of values for contraction amplitude and duration in the distal esophagus found no significant difference in the patients of both groups. Autonomic disturbances were detected in 76.0% of the patients with ES; but the intergroup differences were insignificant. Mental maladaptation was observed in 81.7% of the patients in the absence of intergroup differences. The etiopathogenetic factor of ES is a psychoautonomic response to chronic stress in both primary ES and its concurrence with GERD. The reflux of gastric contents into the esophagus does not appear to be one of the leading causes of ES. In primary ES, esophageal motor function is generally impaired to a much greater extent than that in ES concurrent with GERD. The degree of motor disorders is embodied in the specific clinical features of the disease.

  8. Clinical and microbiological features of cryptococcal meningitis

    Lucia Kioko Hasimoto e Souza

    2013-06-01

    Full Text Available Introduction In this study, the clinical features, underlying diseases and clinical outcomes of patients with cryptococcosis were investigated. In addition, a molecular analysis of the Cryptococcus neoformans species complex isolated from these patients was performed. Methods A prospective study of 62 cases of patients with cryptococcal infection was conducted at the Hospital de Doenças Tropicais de Goiás Dr. Anuar Auad from 2009-2010. Cryptococcal meningitis cases were diagnosed by direct examination and cerebrospinal fluid (CSF sample culture. The profiling of these patients was assessed. The CSF samples were submitted to India ink preparation and cultured on Sabouraud dextrose agar, and C. neoformans was identified by the production of urease, a positive phenoloxidase test and assimilation of carbohydrates. C. neoformans and C. gattii isolates were distinguished by growth on L-canavanine-glycine-bromothymol blue medium, and molecular analysis was conducted via PCR fingerprinting reactions using M13 and (GACA4 primers. Results From the 62 patients with cryptococcosis, 71 isolates of CSF were obtained; 67 (94.4% isolates were identified as C. neoformans var. grubii/VNI, and 4 (5.6% were identified as C. gattii/VGII. Of these patients, 53 had an HIV diagnosis. The incidence of cryptococcosis was higher among patients 20-40 years of age, with 74.2% of the cases reported in males. Cryptococcus-related mortality was noted in 48.4% of the patients, and the symptoms were altered sensorium, headache, fever and stiff neck. Conclusions The high morbidity and mortality observed among patients with cryptococcosis demonstrate the importance of obtaining information regarding the epidemiological profile and clinical course of the disease in the State of Goiás, Brazil.

  9. Underestimated clinical features of postadolescent acne.

    Capitanio, Bruno; Sinagra, Jo Linda; Bordignon, Valentina; Cordiali Fei, Paola; Picardo, Mauro; Zouboulis, Christos C

    2010-11-01

    Postadolescent acne is usually described as an inflammatory, mild-to-moderate dermatosis, frequently involving the lower third of the face, the jawline, and the neck. However, we have also frequently observed a clinical form predominantly characterized by retention lesions (microcomedones and macrocomedones), with few inflammatory lesions (comedonal postadolescent acne [CPAA]), which appears significantly correlated with cigarette smoking. We sought to investigate the clinical features of postadolescent acne in a group of female patients affected by acne and its relationship with cigarette smoking. A total of 226 women with acne (25-50 years) attending our department were examined by a team of 3 dermatologists, to assess the age of onset of the disease, and the number, type, and distribution of acne lesions. In all, 192 of 226 patients (85.0%) were classified as having CPAA and 34 as having papulopustular postadolescent acne. A smoking habit was confirmed in 150 of 226 (66.3%). Remarkably, 72.9% of patients with CPAA were smokers as compared with only 29.4% of those with papulopustular postadolescent acne (P < .0001). Possible limitations are related to geographic area or to the prevalence of darker skin types (III and IV) (data about skin types have not been collected). Other possible aggravating factors (ie, stress and diet) have not been investigated. According to our results, CPAA appears as the most frequent clinical form of postadolescent acne and seems to be strictly correlated with cigarette smoking. Copyright © 2010 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  10. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.

    Armour, C M; Allanson, J E

    2008-04-01

    Cardio-facio-cutaneous syndrome (CFC) is a multiple congenital anomaly/mental retardation syndrome named because of a characteristic facies, cardiac anomalies, and ectodermal abnormalities. While considerable literature describes the main features, few studies have documented the frequencies of less common features allowing a greater appreciation of the full phenotype. We have analysed clinical data on 38 individuals with CFC and a confirmed mutation in one of the genes known to cause the condition. We provide data on well-established features, and those that are less often described. Polyhydramnios (77%) and prematurity (49%) were common perinatal issues. 71% of individuals had a cardiac anomaly, the most common being pulmonary valve stenosis (42%), hypertrophic cardiomyopathy (39%), and atrial septal defect (28%). Hair anomalies were also typical: 92% had curly hair, 84% sparse hair, and 86% absent or sparse eyebrows. The most frequent cutaneous features were keratosis pilaris (73%), hyperkeratosis (61%) and nevi (76%). Significant and long lived gastrointestinal dysmotility (71%), seizures (49%), optic nerve hypoplasia (30%) and renal anomalies, chiefly hydronephrosis (20%), were among the less well known issues reported. This study reports a broad range of clinical issues in a large cohort of individuals with molecular confirmation of CFC.

  11. Initial presentation with dilated cardiomyopathy in a patient of tuberous sclerosis: A rare case report

    Dharmendra Jain

    2013-01-01

    Full Text Available A 35-year-old man presented with dilated cardiomyopathy, an unusual association with tuberous sclerosis. Clinical history and examination were consistent with tuberous sclerosis including major features of tuberous sclerosis complex (TSC like facial angiofibroma, shagreen patch, subependymal nodules, and angiomyolipoma of kidney. The clinical manifestations, pathogenesis and evaluation of tuberous sclerosis are discussed.

  12. Genetics of cardiomyopathies in children

    Matteo Vatta

    2011-08-01

    Full Text Available Cardiomyopathies are diseases of the heart muscle leading to heart failure and/or an increased risk of arrhythmogenic sudden cardiac death. These disorders represent a major cause of morbidity and mortality in children. In childhood forms of cardiomyopathy, genetic etiologies are frequent, but non-genetic or acquired causes, such viral infection, also play a significant role. In the last twenty years, the genetic causes of cardiomyopathies have been increasingly identified and clinical correlations are beginning to be defined. Here we present an overview of the recent advances in our understanding of the genetics of cardiomyopathies in children and what is known about the pathophysiological mechanisms underlying these gene-related forms of disease.

  13. Clinical studies on myocardial damage in hypertrophic cardiomyopathy using exercise testing with thallium-201 myocardial scintigraphy

    Igarashi, Yutaka

    1986-01-01

    Twenty-eight patients with hypertrophic cardiomyopathy (HCM) associated with normal coronary angiogram were categorized into four groups according to the distribution of disproportional hypertrophy in the left ventriculography and biventriculography. The circumferential profiles based on the scintigram were analyzed with reference to the relationship between washout rate and disproportional hypertrophy. As compared with the control group, the mean values of initial uptake in the four HCM-groups decreased in the apical segments and the lower part of anteroseptal segments which were reflected disproportional hypertrophy. The mean values increased significantly in the upper part of anteroseptal segments which projected the largest amount of myocardium three-dimensionally. The mean values of washout rate in the four HCM-groups decreased significantly in all segments, especially in the segments which were reflected in disproportional hypertrophy, and also decreased equally in the segments with the increased initial uptake. In comparison between the segmental values in each HCM-patient and those in the control group, the initial uptake and/or washout rate decreased below the mean value-2SD of the control group in the profiles of 17 out of 28 HCM-patients. The segments with decreased washout rate and normal limit of initial uptake were observed in 12 out of 17 patients. In 25 segments out of the total segments in HCM-patients, an initial uptake and/or washout rate fell down below the normal limit. The washout rate decreased, the initial uptake remained normal in 21 out of 25 segments, and 16 out of 21 segments were reflected in disproportionally hypertrophic wall. In the posterolateral segment which is the thinnest wall in the left ventricular wall of HCM, the mean value of washout rate significantly decreased in 20 patients with normal limit of initial uptake, as compared with the control group. (J.P.N.)

  14. Clinical Features of Refractory Ascites in Outpatients

    Wanda Regina Caly

    Full Text Available OBJECTIVES: To present the clinical features and outcomes of outpatients who suffer from refractory ascites. METHODS: This prospective observational study consecutively enrolled patients with cirrhotic ascites who submitted to a clinical evaluation, a sodium restriction diet, biochemical blood tests, 24 hour urine tests and an ascitic fluid analysis. All patients received a multidisciplinary evaluation and diuretic treatment. Patients who did not respond to the diuretic treatment were controlled by therapeutic serial paracentesis, and a transjugular intrahepatic portosystemic shunt was indicated for patients who required therapeutic serial paracentesis up to twice a month. RESULTS: The most common etiology of cirrhosis in both groups was alcoholism [49 refractory (R and 11 non-refractory ascites (NR]. The majority of patients in the refractory group had Child-Pugh class B cirrhosis (p=0.034. The nutritional assessment showed protein-energy malnutrition in 81.6% of the patients in the R group and 35.5% of the patients in the NR group, while hepatic encephalopathy, hernia, spontaneous bacterial peritonitis, upper digestive hemorrhage and type 2 hepatorenal syndrome were present in 51%, 44.9%, 38.8%, 38.8% and 26.5% of the patients in the R group and 9.1%, 18.2%, 0%, 0% and 0% of the patients in the NR group, respectively (p=0.016, p=0.173, p=0.012, p=0.012, and p=0.100, respectively. Mortality occurred in 28.6% of the patients in the R group and in 9.1% of the patients in the NR group (p=0.262. CONCLUSION: Patients with refractory ascites were malnourished, suffered from hernias, had a high prevalence of complications and had a high postoperative death frequency, which was mostly due to infectious processes.

  15. Clinical Features and Outcomes of Gastric Ischemia.

    Sharma, Ayush; Mukewar, Saurabh; Chari, Suresh T; Wong Kee Song, Louis M

    2017-12-01

    Gastric ischemia is a rare condition associated with poor prognosis. Our study aim was to highlight the clinical features and outcomes of patients with gastric ischemia. A retrospective review of patients diagnosed with isolated gastric ischemia at our institution from January 1, 2000, to May 5, 2016, was performed. Demographic, clinical, endoscopic, radiologic, and outcome variables were abstracted for analysis. Seventeen patients (65% men) with mean age of 69.3 ± 11.3 years and body mass index of 28.8 ± 11.1 were identified. The etiologies for gastric ischemia included local vascular causes (n = 8), systemic hypoperfusion (n = 4), and mechanical obstruction (n = 5). The most common presenting symptoms were abdominal pain (65%), gastrointestinal bleeding (47%), and altered mental status (23%). The typical endoscopic appearance was mucosal congestion and erythema with or without ulceration. Gastric pneumatosis and portal venous air were more commonly seen on CT imaging. Radiologic and/or surgical intervention was needed in 9 patients, while the remaining 8 patients were managed conservatively with acid suppression, antibiotics, and nasogastric tube decompression. The median duration of hospital stay was 15 days (range 1-36 days). There were no cases of rebleeding and the mortality rate as a direct result of gastric ischemia was 24% within 6 months of diagnosis. Although uncommon, gastric ischemia is associated with significant mortality. Endoscopy and CT imaging play an important role in its diagnosis. The management of gastric ischemia is dictated by its severity and associated comorbidities.

  16. Childhood Pars Planitis; Clinical Features and Outcomes

    Homayoon Nikkhah

    2011-01-01

    Full Text Available Purpose: To evaluate the demographic and clinical features of childhood pars planitis, and to determine the therapeutic and visual outcomes of the disease. Methods: Medical records of pediatric patients (less than 16 years of age at diagnosis with pars planitis and at least 6 months of follow-up who were referred to Labbafinejad Medical Center, Tehran, Iran over a 22 year period were reviewed. Results: Overall, 117 eyes of 61 patients including 51 (83.6% male subjects were included. Mean age at the time of diagnosis was 7.8΁3.2 (range, 3-16 years. Mean best corrected visual acuity (BCVA was 0.88΁0.76 logMAR at presentation which improved to 0.39΁0.51 logMAR at final visit (P<0.001. Endotheliitis was present in 23 (19.6% eyes and was significantly more prevalent in subjects younger than 9 years (P=0.025. Cataract formation (41.9% and cystoid macular edema (19.7% were the most prevalent complications. Univariate regression analysis showed that better baseline visual acuity (OR=0.38, 95%CI 0.21-0.70, P=0.002, age older than 5 years at disease onset (OR=0.36, 95%CI 0.14-0.9, P=0.029, absence of endotheliitis (OR=0.39, 95%CI 0.15-0.99, P=0.047 and female gender (OR=3.77, 95%CI 1.03-13.93, P=0.046 were significantly associated with final BCVA of 20/40 or better. Conclusion: Childhood pars planitis was much more common among male subjects. Endotheliitis may be a sign of inflammation spillover and is more prevalent in younger patients. Visual prognosis is favorable in most patients with appropriate treatment.

  17. Takotsubo (Stress Cardiomyopathy

    Justin J Hourmozdi

    2017-01-01

    Full Text Available History of present illness: A 59-year-old male presented to the emergency department in shock from pneumonia. The patient was initially afebrile, pulse rate 120 beats per minute, blood pressure 117/69 mmHg, respiratory rate 42 breaths per minute, pulse oximetry 94% on a non-rebreather mask and a lactate of 14 mmol/L. He became progressively more hypotensive despite fluid resuscitation and was started on norepinephrine. Shortly after, the patient developed torsades de pointes that was terminated with intravenous push magnesium. His initial ECG had shown sinus tachycardia; however, repeat ECG showed ST-segment elevation in the inferolateral leads and the patient had troponin I elevation that peaked at 16 ng/mL. Significant findings: Bedside echocardiography showed the findings consistent with Takotsubo cardiomyopathy. Echocardiographic images are shown in subxiphoid (A and apical four chamber (B views. Note the apical ballooning appearance (asterisk of the left ventricle (LV. Discussion: Formal echocardiography confirmed features classic for Takotsubo (stress cardiomyopathy, including globally depressed left ventricle (LV ejection fraction, systolic apical ballooning appearance of the LV, mid and apical segments of LV depression, and hyper kinesis of the basal walls. Takotsubo cardiomyopathy is a syndrome known to cause ST-segment elevation on ECG, transient LV dysfunction, and dysrhythmia in the absence of acute obstructive coronary disease. There is no consensus on diagnostic criteria; however, these criteria are commonly used: 1 transient hypokinesis, akinesis, or dyskinesis in the LV mid-segments with or without apical involvement; regional wall motion abnormalities that extend beyond a single epicardial vascular distribution; and frequently, but not always, a stressful trigger 2 the absence of acute coronary disease or angiographic evidence of acute plaque rupture 3 new ECG abnormalities (ST-segment elevation and/or T-wave inversion or modest

  18. Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J; Gardarsdottir, Marianna; Teekakirikul, Polakit; Maron, Martin; Appelbaum, Evan; Neisius, Ulf; Maron, Barry J; Burke, Michael A; Chen, Brenden; Pagant, Silvere; Madsen, Christoffer V; Danielsen, Ragnar; Arngrimsson, Reynir; Feldt-Rasmussen, Ulla; Seidman, Jonathan G; Seidman, Christine E; Gunnarsson, Gunnar Th

    2017-08-01

    The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA (α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes). Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation. In vitro expression revealed that p.D322E and p.I232T had α-GalA activities of 1.4% and 14.9% of the mean wild-type activity, respectively. Family A men had markedly decreased α-GalA activity and childhood-onset classic manifestations, except for angiokeratoma and cornea verticillata. Family B men had residual α-GalA activity and developed FD manifestations in adulthood. Despite these differences, all family A and family B men >30 years of age had left ventricular hypertrophy, which was mainly asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations. Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities. © 2017 American Heart Association, Inc.

  19. Cardiomyopathy in becker muscular dystrophy: Overview.

    Ho, Rady; Nguyen, My-Le; Mather, Paul

    2016-06-26

    Becker muscular dystrophy (BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac involvement in BMD has been described and cardiomyopathy represents the number one cause of death in these patients. In this paper, the pathophysiology, clinical evaluations and management of cardiomyopathy in patients with BMD will be discussed.

  20. Diagnostic work-up in cardiomyopathies

    Rapezzi, Claudio; Arbustini, Eloisa; Caforio, Alida L P

    2013-01-01

    a framework for the clinical approach to diagnosis in cardiomyopathies based on the recognition of diagnostic 'red flags' that can be used to guide rational selection of specialized tests including genetic analysis. The basic premise is that the adoption of a cardiomyopathy-specific mindset which combines...

  1. Atrial Fibrillation in Hypertrophic Cardiomyopathy: Prevalence, Clinical Correlations, and Mortality in a Large High‐Risk Population

    Siontis, Konstantinos C.; Geske, Jeffrey B.; Ong, Kevin; Nishimura, Rick A.; Ommen, Steve R.; Gersh, Bernard J.

    2014-01-01

    Background Atrial fibrillation (AF) is a common sequela of hypertrophic cardiomyopathy (HCM), but evidence on its prevalence, risk factors, and effect on mortality is sparse. We sought to evaluate the prevalence of AF, identify clinical and echocardiographic correlates, and assess its effect on mortality in a large high‐risk HCM population. Methods and Results We identified HCM patients who underwent evaluation at our institution from 1975 to 2012. AF was defined by known history (either chronic or paroxysmal), electrocardiogram, or Holter monitoring at index visit. We examined clinical and echocardiographic variables in association with AF. The effect of AF on overall and cause‐specific mortality was evaluated with multivariate Cox proportional hazards models. Of 3673 patients with HCM, 650 (18%) had AF. Patients with AF were older and more symptomatic (P<0.001). AF was less common among patients with obstructive HCM phenotype and was associated with larger left atria, higher E/e’ ratios, and worse cardiopulmonary exercise tolerance (all P values<0.001). During median (interquartile range) follow‐up of 4.1 (0.2 to 10) years, 1069 (29%) patients died. Patients with AF had worse survival compared to those without AF (P<0.001). In multivariate analysis adjusted for established risk factors of mortality in HCM, the hazard ratio (95% confidence interval) for the effect of AF on overall mortality was 1.48 (1.27 to 1.71). AF did not have an effect on sudden or nonsudden cardiac death. Conclusions In this large referral HCM population, approximately 1 in 5 patients had AF. AF was a strong predictor of mortality, even after adjustment for established risk factors. PMID:24965028

  2. Demographics and presenting clinical features of childhood ...

    annaline

    predominance in adolescence and adulthood. The true incidence of ... Conclusion. There is a diverse array of presenting features in childhood SLE. There has .... difficult by the psychological problems associated with coping with a chronic ...

  3. Clinical and laboratory features of hepatocellular carcinoma

    Andrés Cárdenas

    2007-02-01

    have electrolyte disturbances like hyponatremia, hypokalemia, and metabolic alkalosis, associated with defective water handling or with diuretic use. Serum aminotransferases, alkaline phosphatase and gammaglutamyl transpeptidase are often abnormal in a nonspecific pattern. Some serum markers are useful in diagnosis of HCC. The most commonly used is alpha-fetoprotein (AFP. AFP is a glycoprotein that is normally produced during gestation by the fetal liver and the yolk sac.

    In adults, normal values are less than 20 ng/ml and AFP is often elevated in patients with HCC. Serum concentrations of AFP do not correlate with clinical features of HCC, such as size, stage and prognosis but is generally accepted that serum levels greater than 500 ng/ml in a high risk patient is diagnosis of HCC.

    Other serum markers - Because of the limitations of serum AFP measurements, other serum markers of HCC used alone or in combination with the serum AFP have been evaluated for diagnosis or determining prognosis in patients with HCC. These include lens culinaris agglutinin-reactive AFP and des-gamma carboxyprothrombin, glypican-3, human hepatocyte growth factor, and insulin-like growth factor.

     

  4. Ebola outbreak in Conakry, Guinea: Epidemiological, clinical, and outcome features

    Barry, M; Traoré, F A; Sako, F B; Kpamy, D O; Bah, E I; Poncin, M; Keita, S; Cisse, M; Touré, A

    2014-01-01

    The authors studied the epidemiological, clinical, and outcome features of the Ebola virus disease in patients hospitalized at the Ebola treatment center (ETC) in Conakry to identify clinical factors associated with death.

  5. Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation

    van der Smagt, Jasper J.; van der Zwaag, Paul A.; van Tintelen, J. Peter; Cox, Moniek G. P. J.; Wilde, Arthur A. M.; van Langen, Irene M.; Ummels, Amber; Hennekam, F. A. M.; Dooijes, Dennis; Gerbens, Frans; Bikker, Hennie; Hauer, Richard N. W.; Doevendans, Pieter A.

    2012-01-01

    Objectives: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by fibrofatty replacement of cardiomyocytes. In around 50% of index patients, a genetic predisposition is demonstrated. The purpose of this study was to examine a plakophilin-2 (PKP2) splice site

  6. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

    Boyden, Lynn M; Kam, Chen Y; Hernández-Martín, Angela; Zhou, Jing; Craiglow, Brittany G; Sidbury, Robert; Mathes, Erin F; Maguiness, Sheilagh M; Crumrine, Debra A; Williams, Mary L; Hu, Ronghua; Lifton, Richard P; Elias, Peter M; Green, Kathleen J; Choate, Keith A

    2016-01-15

    Disorders of keratinization (DOK) show marked genotypic and phenotypic heterogeneity. In most cases, disease is primarily cutaneous, and further clinical evaluation is therefore rarely pursued. We have identified subjects with a novel DOK featuring erythrokeratodermia and initially-asymptomatic, progressive, potentially fatal cardiomyopathy, a finding not previously associated with erythrokeratodermia. We show that de novo missense mutations clustered tightly within a single spectrin repeat of DSP cause this novel cardio-cutaneous disorder, which we term erythrokeratodermia-cardiomyopathy (EKC) syndrome. We demonstrate that DSP mutations in our EKC syndrome subjects affect localization of desmosomal proteins and connexin 43 in the skin, and result in desmosome aggregation, widening of intercellular spaces, and lipid secretory defects. DSP encodes desmoplakin, a primary component of desmosomes, intercellular adhesion junctions most abundant in the epidermis and heart. Though mutations in DSP are known to cause other disorders, our cohort features the unique clinical finding of severe whole-body erythrokeratodermia, with distinct effects on localization of desmosomal proteins and connexin 43. These findings add a severe, previously undescribed syndrome featuring erythrokeratodermia and cardiomyopathy to the spectrum of disease caused by mutation in DSP, and identify a specific region of the protein critical to the pathobiology of EKC syndrome and to DSP function in the heart and skin. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  7. Clinical Features of Lysosomal Acid Lipase Deficiency

    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

    The aim of this study was to characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children and adults. Investigators reviewed medical records of LAL D patients ages ≥5 years, extracted historical data, and obtained prospective laboratory and imaging data on living

  8. Clinical, serologic, and immunogenetic features of familial idiopathic inflammatory myopathy

    Rider, L. G.; Gurley, R. C.; Pandey, J. P.; Garcia de la Torre, I.; Kalovidouris, A. E.; O'Hanlon, T. P.; Love, L. A.; Hennekam, R. C.; Baumbach, L. L.; Neville, H. E.; Garcia, C. A.; Klingman, J.; Gibbs, M.; Weisman, M. H.; Targoff, I. N.; Miller, F. W.

    1998-01-01

    OBJECTIVE: To describe the clinical, serologic, and immunogenetic features of familial idiopathic inflammatory myopathy (IIM) and to compare these with the features of sporadic IIM. METHODS: Clinical signs and symptoms, autoantibodies, HLA-DRB1 and DQA1 alleles, and GM/KM phenotypes were compared

  9. Clinical Features of Ehlers-Danlos Syndrome

    Jui-Lung Yen

    2006-01-01

    Conclusion: The results of this study emphasize the importance of echocardiographic monitoring of aortic size and valvular condition, and assessment of bone mineral density in patients with EDS. Clinical evaluation and counseling should be undertaken prior to pregnancy in patients with EDS because of the risk from labor and vaginal delivery in patients with type IV and the inability to distinguish EDS subtypes in Taiwan due to the unavailability of biochemical assay or molecular mutation analysis as part of standard care.

  10. Idiopathic granulomatous hypophysitis: clinical and imaging features

    Vasile, M. [Service de Radiologie, Hopital Saint-Antoine, 75 - Paris (France); Marsot-Dupuch, K. [Service de Radiologie, Hopital Saint-Antoine, 75 - Paris (France); Kujas, M. [Service d`Histologie Embryologie Cytogenetique, Hopital Pitie-Salpetriere, 75 - Paris (France); Brunereau, L. [Service de Radiologie, Hopital Saint-Antoine, 75 - Paris (France); Bouchard, P. [Service d`Histologie Embryologie Cytogenetique, Hopital Pitie-Salpetriere, 75 - Paris (France); Comoy, J. [Service de Neurochirurgie, Hopital Kremlin Bicetre, 94 (France); Tubiana, J.M. [Service de Radiologie, Hopital Saint-Antoine, 75 - Paris (France)

    1997-01-01

    Idiopathic pituitary granuloma is a rare disorder similar to lymphocytic adenohypophysitis. Few cases have been reported. We report a new histologically case proven with MRI. The patterns of clinical and radiological presentation and the management of this disorder are discussed. MRI findings suggestive of this condition include an intensely enhancing pituitary mass, associated with dural enhancement. Steroid therapy may be suggested avoiding unnecessary surgery. (orig.)

  11. Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy

    van Spaendonck-Zwarts, Karin Y.; Posafalvi, Anna; van den Berg, Maarten P.; Hilfiker-Kleiner, Denise; Bollen, Ilse A. E.; Sliwa, Karen; Alders, Mariëlle; Almomani, Rowida; van Langen, Irene M.; van der Meer, Peter; Sinke, Richard J.; van der Velden, Jolanda; van Veldhuisen, Dirk J.; van Tintelen, J. Peter; Jongbloed, Jan D. H.

    2014-01-01

    Peripartum cardiomyopathy (PPCM) can be an initial manifestation of familial dilated cardiomyopathy (DCM). We aimed to identify mutations in families that could underlie their PPCM and DCM. We collected 18 families with PPCM and DCM cases from various countries. We studied the clinical

  12. Clinical Features and Outcome of Mucormycosis

    Carlos Rodrigo Camara-Lemarroy

    2014-01-01

    Full Text Available 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.

  13. Hepatobiliary Fascioliasis: Clinical and Radiological Features

    K Aghazade

    2007-08-01

    Full Text Available Fascioliasis is a worldwide but unevenly distributed zoonosis caused by the trematode Fasciola hepatica that infects do­mesti­cated herbivores. Fasciolosis also occurs accidentally in humans by ingestion of metacercaria-laden freshwater or water plants. Human infections are common in developing countries and are not rare in Europe. The clinical course has been con­ventionally described in two phases: an acute phase of hepatic parenchymal invasion of an immature worm larva (parenchy­mal phase and a stationary phase after residence in the bile duct and production of eggs (ductal phase. We report a 34 years old woman from Ilam, western Iran with hepatic disorder, RUQ pain, and jaundice. The diagnosis was made by sonography, CT scan and serologic studies. Serologic exam (ELISA was positive & CT findings were compatible with fascioliasis.

  14. Clinical features and applications of thallium-201. With reference to scintigraphy

    Fujii, Tadashige

    1988-12-01

    Thallium-201 is not only used widely in myocardial imaging but also has a great potential in other various nuclear medicine imaging studies. This paper presents clinical features and applications of thallium-201, focusing on clinical trials with thallium-201 at the Shinshu University School of Medicine. Thallium-201 myocardial scintigraphy offers information on (1) ventricular position and morphology, (2) hypertrophy or dilatation of the left ventricle, (3) hypertrophy or dilatation of the right ventricle, (4) site and extent of myocardial ischemia and infarct, (5) myocardial blood flow, (6) pulmonary congestion or interstitial pulmonary edema, and (7) pericardial effusion. It can be used in the following evaluation or diagnosis: (1) acute or old myocardial infarction, (2) angina pectoris, (3) treatment strategy or prognosis of ischemic heart disease, (4) treatment strategy or observation of bypass graft or drug therapy, (5) hypertrophic or dilated idiopathic cardiomyopathy, (6) myocardial lesions induced by sarcoidosis, collagen disease, and neuro-muscular disease, (7) ventricular hypertrophy and pulmonary edema, and (9) pericarditis, pericardial effusion, and systolic pericarditis associated with underlying disease. The significance of tumor, liver, bone marrow scintigraphies is also referred to. (Namekawa, K) 69 refs.

  15. Absence of a primary role for TTN missense variants in arrhythmogenic cardiomyopathy: From a clinical and pathological perspective.

    Chen, Kai; Song, Jiangping; Wang, Zhen; Rao, Man; Chen, Liang; Hu, Shengshou

    2018-05-01

    Arrhythmogenic cardiomyopathy (ACM) is an inheritable heart disease characterized by fibro-fatty replacement of the myocardium. TTN missense variants were previously reported as a pathogenic factor for ACM. TTN missense variants are commonly identified in ACM, but have limited effect on the phenotype of ACM. We sequenced 15 ACM-related genes in 35 patients who had a heart transplantation and quantified myocardium, and fibrous and adipose tissue in blocks of the explanted heart. Clinical and pathological characteristics were compared between patients with TTN variants and others. Pedigree analysis was performed in 3 families with TTN variants. TTN variants were detected in 11 patients (all missense, 9 heterozygous and 2 oligogenic form). The TTN truncating variant was absent in the cohort. Patients with TTN variants had late onset age of the disease (31 ±13 years vs 17 ±3 years, P = 0.049) and age of heart transplantation (41 ±14 years vs 24 ±9 years, P = 0.027), larger left ventricle end-diastolic diameter (62 ±10 mm vs 45 ±10 mm, P = 0.019), smaller right ventricular outflow tract (34 ±14 mm vs 50 ±15 mm, P = 0.046), more myocardium (40.8% ±29.4% vs 13.8% ±11.0%, P = 0.017), and less adipose tissue (43.0% ±30.9% vs 66.9% ±18.5%, P = 0.036) in right ventricle than those with desmosomal variants. There was few difference between patients with TTN variants and those without variants. Pedigrees showed none of the family members with TTN missense variants had a disease phenotype, indicating a very low penetrance. TTN missense variants was commonly identified in ACM patients in this cohort, but hardly played a primary role in ACM as causative variants. © 2018 Wiley Periodicals, Inc.

  16. Transsexualism: Clinical Features and Legal Issues

    Necla Keskin

    2015-12-01

    Full Text Available Although the epidemiological data is generally obtained from the patients that applied for gender reassignment surgery, it is known that transsexualism is not seen as rarely as it was estimated in the past and should be evaluated in detail because of its psychological and social consequences. Etiology remains to be unclear and biological and psychosocial factors are thought to be responsible for its development. Gender identity stabilizes approximately in 3-4 ages and it is impossible to change it after these ages. For this reason the aim of treatment approaches is to improve the conformity of individuals to their identity and life, but not to change the gender identity. The World Professional Association for Transgender Health [WPATH] published a guideline including standards of care [SOC] and SOC provide clinical guidance in follow-up and treatment of transsexual individuals. There is a detailed code in civil law about gender reassignment but when this code implemented strictly, the use of it is very limited and it is clear that a new arrangement is needed in this issue.

  17. Gray matter heterotopias: MR and clinical features

    Moon, Tae Myung; Yoon, Jeong Hee; Chung, Chun Phil

    1995-01-01

    To evaluate types of gray matter heterotopias, associated brain anomalies, and its correlation with the patterns of seizure. We evaluated retrospectively 19 patients (male:female=10:9, mean age 21 years) with gray matter heterotopias on brain MRI. Using 1.0T superconducting MR unit, spin echo T1-, proton -density and T2-weighted images in axial, coronal and sagittal planes were obtained. Types of gray matter heterotopias were single subependymal in four patients, multiple subependymal in one, focal subcortical in eight, diffuse subcortical in two, mixed multiple subependymal and focal subcortical in four. Associated anomalies were seen in 11 patients: other neuronal migration anomalies in eight patients, corpus callosum agenesis in two, and combined holoprosencephaly and Dandy-Walker malformation in one. Fifteen patients had seizure. The patterns of seizure were not correlated with the types of heterotopias. In addition to subependymal, focal subcortical, and diffuse subcortical types, gray matter heterotopias included mixed variant of multiple subependymal and subcortical type. Schizencephaly was the most common form of accompanying anomalies, and patterns of seizure were not correlated with types of gray matter heterotopias, even though main clinical manifestation was seizure

  18. Inherited dystonias: clinical features and molecular pathways.

    Weisheit, Corinne E; Pappas, Samuel S; Dauer, William T

    2018-01-01

    Recent decades have witnessed dramatic increases in understanding of the genetics of dystonia - a movement disorder characterized by involuntary twisting and abnormal posture. Hampered by a lack of overt neuropathology, researchers are investigating isolated monogenic causes to pinpoint common molecular mechanisms in this heterogeneous disease. Evidence from imaging, cellular, and murine work implicates deficiencies in dopamine neurotransmission, transcriptional dysregulation, and selective vulnerability of distinct neuronal populations to disease mutations. Studies of genetic forms of dystonia are also illuminating the developmental dependence of disease symptoms that is typical of many forms of the disease. As understanding of monogenic forms of dystonia grows, a clearer picture will develop of the abnormal motor circuitry behind this relatively common phenomenology. This chapter focuses on the current data covering the etiology and epidemiology, clinical presentation, and pathogenesis of four monogenic forms of isolated dystonia: DYT-TOR1A, DYT-THAP1, DYT-GCH1, and DYT-GNAL. Copyright © 2018 Elsevier B.V. All rights reserved.

  19. Subclinical hyperthyroidism: clinical features and treatment options.

    Biondi, Bernadette; Palmieri, Emiliano Antonio; Klain, Michele; Schlumberger, Martin; Filetti, Sebastiano; Lombardi, Gaetano

    2005-01-01

    Subclinical hyperthyroidism appears to be a common disorder. It may be caused by exogenous or endogenous factors: excessive TSH suppressive therapy with L-thyroxine (L-T4) for benign thyroid nodular disease, differentiated thyroid cancer, or hormone over-replacement in patients with hypothyroidism are the most frequent causes. Consistent evidence indicates that 'subclinical' hyperthyroidism reduces the quality of life, affecting both the psycho and somatic components of well-being, and produces relevant signs and symptoms of excessive thyroid hormone action, often mimicking adrenergic overactivity. Subclinical hyperthyroidism exerts many significant effects on the cardiovascular system; it is usually associated with a higher heart rate and a higher risk of supraventricular arrhythmias, and with an increased left ventricular mass, often accompanied by an impaired diastolic function and sometimes by a reduced systolic performance on effort and decreased exercise tolerance. It is well known that these abnormalities usually precede the onset of a more severe cardiovascular disease, thus potentially contributing to the increased cardiovascular morbidity and mortality observed in these patients. In addition, it is becoming increasingly apparent that subclinical hyperthyroidism may accelerate the development of osteoporosis and hence increased bone vulnerability to trauma, particularly in postmenopausal women with a pre-existing predisposition. Subclinical hyperthyroidism and its related clinical manifestations are reversible and may be prevented by timely treatment.

  20. Narcolepsy: etiology, clinical features, diagnosis and treatment

    Jolanta B. Zawilska

    2012-10-01

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

  1. Clinical features of anaerobic orthopaedic infections.

    Lebowitz, Dan; Kressmann, Benjamin; Gjoni, Shpresa; Zenelaj, Besa; Grosgurin, Olivier; Marti, Christophe; Zingg, Matthieu; Uçkay, Ilker

    2017-02-01

    Some patient populations and types of orthopaedic surgery could be at particular risk for anaerobic infections. In this retrospective cohort study of operated adult patients with infections from 2004 to 2014, we assessed obligate anaerobes and considered first clinical infection episodes. Anaerobes, isolated from intra-operative samples, were identified in 2.4% of 2740 surgical procedures, of which half (33/65; 51%) were anaerobic monomicrobial infections. Propionibacterium acnes, a penicillin and vancomycin susceptible pathogen, was the predominantly isolated anaerobe. By multivariate analysis, the presence of fracture fixation plates was the variable most strongly associated with anaerobic infection (odds ratio: 2.1, 95% CI: 1.3-3.5). Anaerobes were also associated with spondylodesis and polymicrobial infections. In contrast, it revealed less likely in native bone or prosthetic joint infections and was not related to prior antibiotic use. In conclusion, obligate anaerobes in our case series of orthopaedic infections were rare, and mostly encountered in infections related to trauma with open-fracture fixation devices rather than clean surgical site infection. Anaerobes were often co-pathogens, and cultures most frequently recovered P. acnes. These observations thus do not support changes in current practices such as broader anaerobe coverage for perioperative prophylaxis.

  2. Parasomnias: Diagnosis, Classification and Clinical Features

    Fatma Ozlem Orhan

    2009-10-01

    Full Text Available Parasomnias, as described in the recent second edition of the International Classification of Sleep Disorders, are “undesirable physical events or experiences” occurring during sleep transition, during arousal from sleep, or within the sleep period. These events encompass abnormal sleep related movements, behaviors, emotions, perceptions, dreaming, and autonomic nervous system functioning. Parasomnias are classified as: 1 disorders of arousal (from non-rapid eye movement, or NREM, sleep; 2 parasomnias usually associated with REM (rapid eye movement sleep; and 3 other parasomnias. This sleep disorders in childhood are common, and often more frequent than in adults. Clinicians should be aware that many pediatric parasomnias have benign and self-limited nature. Most of the parasomnias may not persist into late childhood or adolescence. Parasomnias in adults often differ in type from childhood parasomnias and may portend significant psychiatric disturbances or neurodegenerative disorders. A reliable diagnosis can often be made from a detailed history from the patient and, if possible, the parents or bed partner. Detailed overnight investigations of parasomnias are usually not required. The non-REM parasomnias are more common in community although REM parasomnias are more likely to be seen in general neurological practice. Sleep related eating disorder, sleep related dissociative disorders and sleep related sexual behavior and sleep related violence are novel and rarely reported sleep disorders. REM sleep behavior disorder is common and should be sought in all neurodegenerative diseases. They are included among clinical disorders due to the resulting injuries, and adverse health and psychosocial effects, which may affect the bed partner as well as the patient. Finally, parasomnias are common disturbances of sleep that may significantly affect the patient’s quality of life and that of the bed partner. Therefore, appropriate diagnostic and

  3. School Refusal: Clinical Features, Diagnosis and Treatment

    Kayhan Bahali

    2010-12-01

    Full Text Available Children regularly and voluntarily go to school in order to fulfill the expectations of society from them to continue their education or schooling. School continuation has been made compulsory by laws. Nonetheless, contrary to popular belief, for some children it is distressing to go to school. These children have difficulty continuing school and/or refuse to go to school. Today school refusal is defined as a child’s inability to continue school for reasons, such as anxiety and depression. The prevalence of school refusal has been reported to be approximately 1% in school-age children and 5% in child psychiatry samples. The prevalence of school refusal is similar among boys and girls. School refusal can occur at any time throughout the child’s academic life and at all socio-economic levels. School refusal is considered a symptom rather than a clinical diagnosis and can manifest itself as a sign of many psychiatric disorders, with anxiety disorders predominant. Separation anxiety disorder, generalized anxiety disorder, social phobia, specific phobia, and adjustment disorder with anxiety symptoms are the most common disorders co-occurring with school refusal. While separation anxiety disorder is associated with school refusal in younger children, other anxiety disorders, especially phobias, are associated with school refusal in adolescents. Children who have parents with psychiatric disorders have a higher incidence of school refusal, and psychiatric disorders are more frequently seen in adult relatives of children with school refusal, which supports a significant role of genetic and environmental factors in th etiology of school refusal. School refusal is a emergency state for child mental health. As it leads to detrimental effects in the short term and the long term, it should be regarded as a serious problem. The long-lasting follow-up studies of school refusing children have revealed that these children have a higher incidence of

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

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

    2016-01-01

    . CONCLUSION: These findings are consistent with variable involvement of different brain regions during a migraine attack. The variable occurrence of nausea, and phonophobia in conjunction with photophobia, both defining features of migraine, may be an important consideration in designing clinical studies......BACKGROUND: There is significant variability in the clinical presentation of migraine, both among patients, and between attacks in an individual patient. We examined clinical features of migraine with aura in a large group of patients enrolled in a clinical trial, and compared retrospective...... a detailed retrospective description of the clinical features of their attacks of migraine. During the trial, clinical symptoms in migraine attacks starting with aura were recorded prospectively in 861 attacks. RESULTS: Retrospectively reported visual aura symptoms were variable and often overlapping...

  5. Desmoid tumors: clinical features and treatment options: a case ...

    Desmoid tumors: clinical features and treatment options: a case report and a review of literature. Amel Achour Jenayah, Hajer Bettaieb, Sarra Saoudi, Anissa Gharsa, Ezzeddine Sfar, Fethia Boudaya, Dalenda Chelli ...

  6. Classification and clinical features of primary headache in Akaki ...

    Classification and clinical features of primary headache in Akaki Textile Mill workers, ... study wherein data collection and examination of cases using a structured and ... like pressure or tightness with a mild to moderate intensity and anorexia.

  7. Epidemiology and clinical features of patients with hepatocellular ...

    2016-02-28

    Feb 28, 2016 ... deaths worldwide.[1] It is the fifth most common type ... Qari and Mosli: Epidemiological and clinical features of liver cancer. 44. Nigerian Journal of ... Package for the Social Sciences (SPSS Inc., Chicago, IL,. USA), version 16.

  8. Autoimmune Thyroiditis: Clinical Course Features and Principles of Differential Therapy

    L.Ye. Bobyryova

    2014-02-01

    Full Text Available Constant increase in the incidence of autoimmune thyroiditis (AIT in different regions of Ukraine puts this problem in actual number that determines the need to identify features of the clinical course of AIT, the principles of differentiated treatment depending on the nature of the metabolic changes and taking into account regional differences in thyroid pathology, particularly AIT. The paper presents data on the study of features of clinical course and complex treatment of AIT.

  9. TREATMENT OF PERIPARTUM CARDIOMYOPATHY (REVIEW

    N. T. Vatutin

    2017-01-01

    Full Text Available The presented review concerns discussion about current insights into treatment of peripartum cardiomyopathy. The definition of peripartum cardiomyopathy and general issues about diagnosis and pathogenesis of the disorder are provided at the head of the review. Particularly, the role of the system «prolactin — cathepsin D — prolactin 16 kDa» in cardiomyopathy development is disclosed. The general approaches to management of the patients are highlighted. The review provides detailed data about indications, adverse effects and derived clinical experience concerning the main pharmacological drugs which had been used in peripartum cardiomyopathy treatment given their possible unfavorable influence on fetus maturation and maternal lactation. The detailed description is provided on diuretics including loop, thiazide and potassium-sparing drugs. It was noted relative safety and efficiency of nitrates and hydralazine in conditions of limited choice from vasodilator group and, particularly, angiotensinconverting-enzyme inhibitors and angiotensin-II receptor blockers which are contraindicated in pregnancy. A special attention is paid to the group of inotropic drugs: levosimendan, milrinone, and cardiac glycosides. The role of β-blockers and ivabradine is disclosed in heart failure treatment of peripartum cardiomyopathy. Anticoagulants were presented in details given that these drugs are justified in severe cardiac chambers dilation, decrease in ejection fraction, and in presence of intracardiac thrombosis. The place of antiarrhythmic drugs administrating in various cardiac rhythm disorders is discussed in the review. The data is given with account of potential influence on fetus in antenatal peripartum cardiomyopathy in which lidocaine and sotalol are the most preferable drugs; adenosine, quinidine, and flecainide are useful with caution, but amiodarone and dronedarone are absolutely contraindicated. Taking into account proposed pathogenic

  10. Takotsubo Cardiomyopathy and 5-Fluorouracil: Getting to the Heart of the Matter

    Stephanie Hui-Su Lim

    2013-01-01

    Full Text Available Takotsubo cardiomyopathy is a rare but increasingly recognized phenomenon, which can occur as a side-effect of chemotherapeutic agents, in particular, the antimetabolite 5-fluorouracil. We describe a case of delayed Takotsubo cardiomyopathy after 3 weeks of adjuvant 5-fluorouracil for resected rectal adenocarcinoma in a 66-year-old female, supported by angiographic, electrocardiographic, and echocardiographic features. As a complication, she developed an apical mural thrombus with subsequent cerebral thromboembolic events and was successfully anticoagulated to make a full recovery. We present a review of the literature on Takotsubo cardiomyopathy secondary to 5-fluorouracil and the rare occurrence of thromboembolic complications. As this is a significant clinical phenomenon which involves a multispeciality approach to management, oncologists and cardiologists need to recognize it as a potential toxicity of a widely administered chemotherapeutic drug.

  11. Arrhythmogenic right ventricular cardiomyopathy in a dog : case report

    A.J. Möhr

    2000-07-01

    Full Text Available An 8-month-old Labrador retriever bitch was evaluated for sudden-onset, progressive abdominal distension. Physical examination revealed an exaggerated inspiratory effort, severe ascites, bilateral jugular vein distension, and hypokinetic femoral arterial pulses. Thoracic auscultation detected tachycardia with muffled heart sounds, without audible cardiac murmurs. Thoracic radiographs identified severe right ventricular enlargement and pleural effusion. The electrocardiogram was consistent with incomplete right bundle branch block or right ventricular enlargement. Echocardiography demonstrated severe right ventricular and atrial dilation, secondary tricuspid regurgitation, and thinning and hypocontractility of the right ventricular myocardium. Left heart chamber sizes were slightly decreased, with normal left ventricular contractility. Adiagnosis of arrhythmogenic right ventricular cardiomyopathy was reached, based on the characteristic clinical, electrocardiographic, radiographic and echocardiographic findings, and the exclusion of other causes of isolated right ventricular failure. Treatment effected good control of clinical signs, until acutely decompensated congestive right heart failure led to euthanasia after 4 months. Arrhythmogenic right ventricular cardiomyopathy is a well-described clinical entity in humans, and has previously been documented in 3 male dogs. The condition is characterised by progressive fibro-adipose replacement of right ventricular myocardium, while the left ventricle usually remains unaffected. It should be considered a differential diagnosis in any young dog presented with isolated right heart failure, syncope, or unexplained ventricular tachyarrhythmias. This article reports the 1st case of arrhythmogenic right ventricular cardiomyopathy in a female dog, and highlights its echocardiographic features.

  12. Lysosome-associated hypertrophic cardiomyopathy (Danon's disease in two siblings

    I. V. Leontyeva

    2015-01-01

    Full Text Available The paper presents a clinical observation of two siblings with Danon's disease (lysosome-associated cardiomyopathy verified by genetic examination. Heart lesion in Danon's disease bears a phenotypic similarity to the primary forms of hypertrophic cardiomyopathy; in this connection the correct etiology of the disease has remained long unestablished. The presence of laboratory markers as the significantly raised levels of transaminases, creatine phosphokinase, and lactate dehydrogenase was as a guide for suspecting the metabolic origin of the disease. Two siblings with a similar LAMP gene mutation were observed to have a different clinical course: a severer clinical course of cardiomyopathy with extreme myocardial hypertrophy, myocardial electric instability, and mental development retardation in one case and a more favorable course in the other; although a 2-year follow-up also revealed negative changes. For the prevention of sudden cardiac death, a cardioverter defibrulator was implanted and continuous therapy with p-adrenoblockers was performed. The specific feature of the cases was no symptoms of skeletal myopathy, moderate mental retardation only in the elder brother, no evidence of an accessory atrioventricular junction despite the fact that there were ECG manifestations of Wolff-Parkinson-White syndrome

  13. Intracoronary Cytoprotective Gene Therapy: A Study of VEGF-B167 in a Pre-Clinical Animal Model of Dilated Cardiomyopathy.

    Woitek, Felix; Zentilin, Lorena; Hoffman, Nicholas E; Powers, Jeffery C; Ottiger, Isabel; Parikh, Suraj; Kulczycki, Anna M; Hurst, Marykathryn; Ring, Nadja; Wang, Tao; Shaikh, Farah; Gross, Polina; Singh, Harinder; Kolpakov, Mikhail A; Linke, Axel; Houser, Steven R; Rizzo, Victor; Sabri, Abdelkarim; Madesh, Muniswamy; Giacca, Mauro; Recchia, Fabio A

    2015-07-14

    Vascular endothelial growth factor (VEGF)-B activates cytoprotective/antiapoptotic and minimally angiogenic mechanisms via VEGF receptors. Therefore, VEGF-B might be an ideal candidate for the treatment of dilated cardiomyopathy, which displays modest microvascular rarefaction and increased rate of apoptosis. This study evaluated VEGF-B gene therapy in a canine model of tachypacing-induced dilated cardiomyopathy. Chronically instrumented dogs underwent cardiac tachypacing for 28 days. Adeno-associated virus serotype 9 viral vectors carrying VEGF-B167 genes were infused intracoronarily at the beginning of the pacing protocol or during compensated heart failure. Moreover, we tested a novel VEGF-B167 transgene controlled by the atrial natriuretic factor promoter. Compared with control subjects, VEGF-B167 markedly preserved diastolic and contractile function and attenuated ventricular chamber remodeling, halting the progression from compensated to decompensated heart failure. Atrial natriuretic factor-VEGF-B167 expression was low in normally functioning hearts and stimulated by cardiac pacing; it thus functioned as an ideal therapeutic transgene, active only under pathological conditions. Our results, obtained with a standard technique of interventional cardiology in a clinically relevant animal model, support VEGF-B167 gene transfer as an affordable and effective new therapy for nonischemic heart failure. Copyright © 2015 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  14. Clinical Features and Pattern of Presentation of Breast Diseases in ...

    Objective: To characterize the clinical features and pattern of presentation of breast diseases as observed in our practice. Materials and Methods: A prospective study of 121 consecutive patients with breast complaints presenting in our Surgical Outpatient Clinics. The relevant data were collected by two surgeons using the ...

  15. Perinatal clinical and imaging features of CLOVES syndrome

    Fernandez-Pineda, Israel [Virgen del Rocio Children' s Hospital, Department of Pediatric Surgery, Seville (Spain); Fajardo, Manuel [Virgen del Rocio Children' s Hospital, Department of Pediatric Radiology, Seville (Spain); Chaudry, Gulraiz; Alomari, Ahmad I. [Children' s Hospital Boston and Harvard Medical School, Division of Vascular and Interventional Radiology, Boston, MA (United States)

    2010-08-15

    We report a neonate with antenatal imaging features suggestive of CLOVES syndrome. Postnatal clinical and imaging findings confirmed the diagnosis, with the constellation of truncal overgrowth, cutaneous capillary malformation, lymphatic and musculoskeletal anomalies. The clinical, radiological and histopathological findings noted in this particular phenotype help differentiate it from other overgrowth syndromes with complex vascular anomalies. (orig.)

  16. Clinical and ultrasonographic features of amoebic liver abscess In a ...

    Background: Amoebic Liver abscess is a tropical disease with a wide spectrum of clinical presentation. This study describes its clinical and ultrasonographic features in a teaching hospital setting. Methods: Records of all patients aged 18 years and above with amoebic liver abscess admitted in the medical wards of ...

  17. NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.

    Ceyhan-Birsoy, Ozge; Miatkowski, Maya M; Hynes, Elizabeth; Funke, Birgit H; Mason-Suares, Heather

    2018-04-25

    RASopathies include a group of syndromes caused by pathogenic germline variants in RAS-MAPK pathway genes and typically present with facial dysmorphology, cardiovascular disease, and musculoskeletal anomalies. Recently, variants in RASopathy-associated genes have been reported in individuals with apparently nonsyndromic cardiomyopathy, suggesting that subtle features may be overlooked. To determine the utility and burden of adding RASopathy-associated genes to cardiomyopathy panels, we tested 11 RASopathy-associated genes by next-generation sequencing (NGS), including NGS-based copy number variant assessment, in 1,111 individuals referred for genetic testing for hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM). Disease-causing variants were identified in 0.6% (four of 692) of individuals with HCM, including three missense variants in the PTPN11, SOS1, and BRAF genes. Overall, 36 variants of uncertain significance (VUSs) were identified, averaging ∼3VUSs/100 cases. This study demonstrates that adding a subset of the RASopathy-associated genes to cardiomyopathy panels will increase clinical diagnoses without significantly increasing the number of VUSs/case. © 2018 Wiley Periodicals, Inc.

  18. Stress cardiomyopathy syndrome: a contemporary review.

    Kapoor, Divya; Bybee, Kevin A

    2009-12-01

    Stress cardiomyopathy (SC) syndrome represents a reversible form of cardiomyopathy that commonly presents proximate to an acute emotional or physiologic stressor. The clinical presentation is similar to an acute coronary syndrome in the absence of obstructive coronary artery disease to explain the unusual distribution of associated transient wall motion abnormalities. Postmenopausal women seem particularly prone to SC for unclear reasons. The pathophysiology of the syndrome is unknown but may involve pathologic sympathetic myocardial stimulation.

  19. CLINICAL AND MORPHOLOGICAL APPROACH TO DIAGNOSIS OF "IDIOPATHIC" ARRHYTHMIAS AND DILATED CARDIOMYOPATHY SYNDROME AS A BASIS FOR DIFFERENTIATED THERAPY. Part II (Treatment

    O. V. Blagova

    2014-01-01

    Full Text Available Part I (Diagnostics, was published in the journal “Rational Pharmacotherapy in Cardiology” 2014;10(1:62-72Aim. To develop a comprehensive clinical and morphological approach to the nosological diagnosis and treatment of "idiopathic" arrhythmias (IA and the syndrome of dilated cardiomyopathy (DCM.Material and methods. Patients (n=320 with IA (n=190; 117 women, age 45.3±14.8 years and DCM (n=130, 41 women, age 46.9±12.5 years were included in the main group. 51 people (patients with ischemic heart disease; heart valve disease, hypertrophic cardiomyopathy, who underwent open-heart surgery; healthy volunteers were included in the control group. Along with the standard tests evaluation of the level of anti-heart antibodies (185 patients with IA and 122 with DCM, viral serology (166 and 122, multispiral computed tomography (42 and 88, cardiac magnetic resonance imaging (41 and 22, coronary angiography (19 and 54, myocardial biopsy/autopsy (19/0 and 33/9 were performed.Results. According to morphological study infectious-immune myocarditis was found in 78.9% patients with IA and 66.7% patients with DCM, arrhythmogenic right ventricular dysplasia in 5.3% and 4.8% of patients, respectively. Other genetic cardiomyopathies, including combination with myocarditis were revealed in other patients. The frequency of the viral genome detection in the myocardium in IA, DCM and the control group was 17.6%, 66.7% and 77.1%, respectively. However in the control group the incidence of myocarditis and anti-heart antibodies titers were significantly lower than in the main group, where a strong correlation between myocarditis and anti-heart antibodies titers was found. The algorithm of noninvasive nosological diagnostics was developed; it allowed to verify diagnosis in 95% of IA patients and 89% DCM patientsThe basic therapy (antiviral drugs, corticosteroids, hydroxychloroquine, azathioprine was performed in some patients with myocarditis. Improving of the

  20. CLINICAL AND MORPHOLOGICAL APPROACH TO DIAGNOSIS OF "IDIOPATHIC" ARRHYTHMIAS AND DILATED CARDIOMYOPATHY SYNDROME AS A BASIS FOR DIFFERENTIATED THERAPY. Part II (Treatment

    O. V. Blagova

    2015-09-01

    Full Text Available Part I (Diagnostics, was published in the journal “Rational Pharmacotherapy in Cardiology” 2014;10(1:62-72Aim. To develop a comprehensive clinical and morphological approach to the nosological diagnosis and treatment of "idiopathic" arrhythmias (IA and the syndrome of dilated cardiomyopathy (DCM.Material and methods. Patients (n=320 with IA (n=190; 117 women, age 45.3±14.8 years and DCM (n=130, 41 women, age 46.9±12.5 years were included in the main group. 51 people (patients with ischemic heart disease; heart valve disease, hypertrophic cardiomyopathy, who underwent open-heart surgery; healthy volunteers were included in the control group. Along with the standard tests evaluation of the level of anti-heart antibodies (185 patients with IA and 122 with DCM, viral serology (166 and 122, multispiral computed tomography (42 and 88, cardiac magnetic resonance imaging (41 and 22, coronary angiography (19 and 54, myocardial biopsy/autopsy (19/0 and 33/9 were performed.Results. According to morphological study infectious-immune myocarditis was found in 78.9% patients with IA and 66.7% patients with DCM, arrhythmogenic right ventricular dysplasia in 5.3% and 4.8% of patients, respectively. Other genetic cardiomyopathies, including combination with myocarditis were revealed in other patients. The frequency of the viral genome detection in the myocardium in IA, DCM and the control group was 17.6%, 66.7% and 77.1%, respectively. However in the control group the incidence of myocarditis and anti-heart antibodies titers were significantly lower than in the main group, where a strong correlation between myocarditis and anti-heart antibodies titers was found. The algorithm of noninvasive nosological diagnostics was developed; it allowed to verify diagnosis in 95% of IA patients and 89% DCM patientsThe basic therapy (antiviral drugs, corticosteroids, hydroxychloroquine, azathioprine was performed in some patients with myocarditis. Improving of the

  1. Lone ventricular cardiomyopathy,

    ... (I) cardiac catheterisation, including coronary arteriography and pulmonary ... described existence of lone ventricular idiopathic ... spectrum of classic idiopathic dilated cardiomyopathy. ... endomyocardial fibrosis, and from discussions at an.

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

    Rahimi, Zohreh

    2013-01-01

    There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the ?-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, ? -chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iran...

  3. Peripartum Cardiomyopathy Presenting as Bradycardia

    Codsi, Elisabeth; Rose, Carl H.; Tweet, Marysia S.; Hayes, Sharonne N.; Best, Patricia J. M.; Blauwet, Lori A.

    2017-01-01

    Peripartum cardiomyopathy (PPCM) is a disease that typically affects young otherwise healthy women. As PPCM is associated with significant mortality, timely diagnosis is necessary to ensure appropriate care. To our knowledge, this represents the first reported case of PPCM presenting as symptomatic bradycardia. We describe the patient’s clinical presentation and relevant findings and review the potential etiology and ramifications of bradycardia in patients with PPCM.

  4. clinical features of malaria parasiteamia among children in parts of ...

    LUCY

    This study was carried out to investigate the prevalence of malaria parasitamiae and its clinical features in children aged 0-5 years in parts of Delta State of Nigeria. Blood samples were randomly collected from the thumb of each child using the finger prick method. A total of 600 blood samples (360 males and 240 females) ...

  5. Clinical features of emergency department patients with depression ...

    Clinical features of emergency department patients with depression who had attempted to commit suicide by poisoning. ... MDD patients. Conclusion: In poisoning patients with MDD, physicians in the ED must consider that they have a higher tendency to show suicidal behavior and to have ingested multiple types of drugs.

  6. Psychiatric Illness in Mentally Retarded Adolescents: Clinical Features.

    Masi, Gabriele

    1998-01-01

    Describes the clinical features of the most important psychiatric disorders in mentally retarded adolescents: mood disorders, psychotic disorders, severe behavioral disorders, personality disorders, anxiety disorders, and attention-deficit The impact of mental retardation on personality development is confirmed by the high psychopathological…

  7. Clinical features and respiratory complications in Myhre syndrome

    McGowan, Ruth; Gulati, Ramkumar; McHenry, Pamela; Cooke, Alexander; Butler, Sandra; Keng, Wee Teik; Murday, Victoria; Whiteford, Margo; Dikkers, Frederik G.; Sikkema-Raddatz, Brigit; van Essen, Ton; Tolmie, John

    2011-01-01

    We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three cases had no family history of similarly affected individuals but 1 male's mother had short stature, some facial features

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

    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…

  9. The place of clinical features and standard chest radiography in ...

    One hundred and five primary mediastinal masses were seen between 1975 and 1998, at the Cardiothoracic surgical Unit of the University College Hospital Ibadan. These were studied to establish the importance of clinical features and plain chest radiography in preoperative evaluation of these masses. The sources of ...

  10. Chronic actinic dermatitis - A study of clinical features

    Somani Vijay

    2005-01-01

    Full Text Available Background: Chronic actinic dermatitis (CAD, one of the immune mediated photo-dermatoses, comprises a spectrum of conditions including persistent light reactivity, photosensitive eczema and actinic reticuloid. Diagnostic criteria were laid down about 20 years back, but clinical features are the mainstay in diagnosis. In addition to extreme sensitivity to UVB, UVA and/or visible light, about three quarters of patients exhibit contact sensitivity to several allergens, which may contribute to the etiopathogenesis of CAD. This study was undertaken to examine the clinical features of CAD in India and to evaluate the relevance of patch testing and photo-aggravation testing in the diagnosis of CAD. Methods: The clinical data of nine patients with CAD were analyzed. Histopathology, patch testing and photo-aggravation testing were also performed. Results: All the patients were males. The average age of onset was 57 years. The first episode was usually noticed in the beginning of summer. Later the disease gradually tended to be perennial, without any seasonal variations. The areas affected were mainly the photo-exposed areas in all patients, and the back in three patients. Erythroderma was the presenting feature in two patients. The palms and soles were involved in five patients. Patch testing was positive in seven of nine patients. Conclusions: The diagnosis of CAD mainly depended upon the history and clinical features. The incidence of erythroderma and palmoplantar eczema was high in our series. Occupation seems to play a role in the etiopathogenesis of CAD.

  11. Clinical Features and the Factors Associated with Poor Outcome of ...

    Clinical Features and the Factors Associated with Poor Outcome of. Measles Patients at Queen Elizabeth Central Hospital. Robin L Broadhead. Paul Courtright. Lincy Misoya. Affiliation: 1. Department of Paediatrics College of. Medicine University of Malawi. 2. International Eye FoundatiQn. 3. Department of Paediatrics ...

  12. Clinical Features Of Malaria And Typhoid Fever | Mba | Journal of ...

    Features to distinguish Malaria from Typhoid fever. These can be discerned from a good and detailed clinical history, in addition to a thorough physical examination. The following would help. The paroxysms of malaria fever as against the step ladder pattern fever of typhoid fever. The prominence of headaches in typhoid ...

  13. Polycystic ovaries and associated clinical and biochemical features ...

    The aim of this study was to determine prevalence of polycystic ovaries (PCO) and associated clinical and biochemical features among women with infertility attending gynaecological outpatient department (GOPD) at Muhimbili National Hospital (MNH) in Dar es Salaam, Tanzania. All women with infertility attending the ...

  14. Colonic duplications: Clinical presentation and radiologic features of five cases

    Blickman, J.G.; Rieu, P.H.M.; Buonomo, C.; Hoogeveen, Y.L.; Boetes, C.

    2006-01-01

    Diagnosis of colonic duplication can pose a potential problem even for those familiar with gastro-intestinal tract duplications in general but unaware of the condition due to its rarity and its apparently bimodal clinical presentation. In this report of five cases of surgically proven pediatric colonic duplication, we illustrate how the condition manifests clinically and describe the imaging features in an attempt to illustrate this bimodal presentation of the condition. The possible etiology, associated congenital anomalies and modes of clinical presentation are reviewed based on literature review as well as on our own experience

  15. Clinical features in accelerated phase of chronic myeloid leukemia

    Naqi, N.; Ayub, M.

    2001-01-01

    Objective: To identify the clinical indicators of accelerated phase in chronic myeloid leukemia (CML) diagnosed on hematological findings. Design: An observational and prospective study. Place and Duration of Study: The study was conducted at Oncology department of Combined Military Hospital, Rawalpindi and Armed Forces Institute of Pathology from April 1998 to April 1999. Subjects and Methods: The study on 51 patients of Philadelphia positive CML in chronic phase and on hydroxyurea therapy were carried out. Clinical features and hematological parameters in the peripheral blood examination were recorded and statistical analysis carried out to document reliable clinically indicators of accelerated phase of CML in reference to those reported in the literature. Results: Clinical, presence of unexplained fever, re-enlargement of spleen after successful regression with hydroxyurea therapy, and bleeding diathesis were found to be statistically significant pointers of progression into accelerated phase of CML. In the hematological features, with the exception of peripheral basophilia, the findings in the peripheral blood were consistent with those reported in the literature. Conclusion: It is concluded that the occurrences of the clinical features in the follow-up of chronic myeloid leukemia patients herald the accelerated phase of the disease. (author)

  16. [Rocky Mountain spotted fever in children: clinical and epidemiological features].

    Martínez-Medina, Miguel Angel; Alvarez-Hernández, Gerardo; Padilla-Zamudioa, José Guillermo; Rojas-Guerra, Maria Guadalupe

    2007-01-01

    To report the clinical features of the Rocky Mountain spotted fever (RMSF) in children of southern Sonora, Mexico. Nine cases were studied at the Sonora State Children's Hospital. One case was defined by clinical features and positive serological tests (indirect immunofluorescence assay or reaction to Proteus OX 19). Demographic and clinical characteristics of the patients were registered. The study subjects were children from two to twelve years ofage. All patients have had contact with tick-infested dogs and had fever, as well as petechial rash. Laboratory findings included high levels of hepatic aminotransferase, hyponatremia and thrombocytopenia. Therapy with chloramphenicol and doxyciclyne was administered after the first seven days of the onset of illness. The mortality rate was 22%. This study supports the presence of RMSF in the state of Sonora, Mexico, which should be considered as a public health hazard, requiring immediate actions for prevention and control.

  17. An unusual ST-segment elevation: apical hypertrophic cardiomyopathy shows the ace up its sleeve.

    de Santis, Francesco; Pergolini, Amedeo; Zampi, Giordano; Pero, Gaetano; Pino, Paolo Giuseppe; Minardi, Giovanni

    2013-01-01

    Apical hypertrophic cardiomyopathy is part of the broad clinical and morphologic spectrum of hypertrophic cardiomyopathy. We report a patient with electrocardiographic abnormalities in whom acute coronary syndrome was excluded and apical hypertrophic cardiomyopathy was demonstrated by careful differential diagnosis. Copyright © 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  18. Clinical and radiological features of hypertensive brainstem encephalopathy

    Xiao-qiu LI

    2015-07-01

    Full Text Available Objective To discuss the diagnosis and treatment of hypertensive brainstem encephalopathy. Methods  The clinical and imaging data of 3 cases of hypertensive brainstem encephalopathy were summarized and analyzed for the purpose of improving the acumen in diagnosis and treatment. Results All the 3 patients showed relatively mild clinical symptoms, and they were misdiagnosed in different degrees during the treatment, but their clinical symptoms were improved by rapid and effective antihypertensive therapy. Cerebral CT and MRI scans revealed extensive abnormal signals in brain stem, with or without supratentorial lesions and brain stem hemorrhage. The lesions as revealed by imaging were improved significantly after treatment. Conclusions Clinical-radiographic dissociation is the classic feature of hypertensive brainstem encephalopathy. The clinical symptoms and lesions as shown by imaging could be improved after active treatment. DOI: 10.11855/j.issn.0577-7402.2015.06.03

  19. Longitudinal strain bull's eye plot patterns in patients with cardiomyopathy and concentric left ventricular hypertrophy.

    Liu, Dan; Hu, Kai; Nordbeck, Peter; Ertl, Georg; Störk, Stefan; Weidemann, Frank

    2016-05-10

    Despite substantial advances in the imaging techniques and pathophysiological understanding over the last decades, identification of the underlying causes of left ventricular hypertrophy by means of echocardiographic examination remains a challenge in current clinical practice. The longitudinal strain bull's eye plot derived from 2D speckle tracking imaging offers an intuitive visual overview of the global and regional left ventricular myocardial function in a single diagram. The bull's eye mapping is clinically feasible and the plot patterns could provide clues to the etiology of cardiomyopathies. The present review summarizes the longitudinal strain, bull's eye plot features in patients with various cardiomyopathies and concentric left ventricular hypertrophy and the bull's eye plot features might serve as one of the cardiac workup steps on evaluating patients with left ventricular hypertrophy.

  20. Clinical features and outcome analysis of intracranial hydatid cysts

    Khan, M.M.; Shah, M.; Ayub, S.; Ahmad, A.; Aman, A.; Shah, M.A.; Rehman, R.U.

    2016-01-01

    Background: Hydatid cyst of the brain is a serious zoonotic parasitic infection which have profound health consequences if left untreated. The surgical excision of the cysts are rewarding for both the patient the neurosurgeon. Methods: The study was conducted prospectively at Department of Neurosurgery Hayatabad Medical Complex Peshawar from January 2013 to December 2014. Patients with a diagnosis of intracranial hydatid cysts were included, clinical and radiological features recorded, intervention and postoperative outcome were analysed. Results: Eleven patients with a male to female ratio of 1.7:1. Mean age was 12.4 (SD±6.5) years with median GCS on arrival of 10 (SD±2.5). Clinical features were headache (81.8 percentage), vomiting (90.9 percentage), seizures (36.4 percentage), focal deficits (54.5 percentage) and papilloedema (72.7 percentage). The median GCS on discharge was 13 (SD±1.1) while GOS at 1 month follow up was 4 (SD±0.7). The bivariate analysis showed inverse correlation (R2=-0.68; p=0.02) between duration of symptoms and outcome while GCS on admission was positively correlated (rs=0.75; p=0.007) with the outcome. There was no mortality. Conclusion: Despite its rarity the clinical features are non-specific while radiological features help in establishing diagnosis. Earlier diagnosis and prompt intervention is the key to favourable outcome. (author)

  1. Myocardial ischemia in hypertrophic cardiomyopathy

    Lima Filho, Moyses de Oliveira; Figueiredo, Geraldo L.; Simoes, Marcus V.; Pyntia, Antonio O.; Marin Neto, Jose Antonio

    2000-01-01

    Myocardial ischemia in hypertrophic cardiomyopathy is multifactorial and explains the occurrence of angina, in about 50% of patients. The pathophysiology of myocardial ischemia may be explained by the increase of the ventricular mass and relative paucity of the coronary microcirculation; the elevated ventricular filling pressures and myocardial stiffness causing a compression of the coronary microvessels; the impaired coronary vasodilator flow reserve caused by anatomic and functional abnormalities; and the systolic compression of epicardial vessel (myocardial bridges). Myocardial ischemia must be investigated by perfusion scintigraphic methods since its presence influences the prognosis and has relevant clinical implications for management of patients. Patients with hypertrophic cardiomyopathy and documented myocardial ischemia usually need to undergo invasive coronary angiography to exclude the presence of concomitant atherosclerotic coronary disease. (author)

  2. Clinical and Anamnestic Features of Hepatic Steatosis in Children

    N.Yu. Zavgorodnia

    2015-11-01

    Full Text Available The article is devoted to the study of clinical and anamnestic features of hepatic steatosis in children. The results of a comparative analysis of survey data of patients with evidence of hepatic steatosis and patients without steatosis were shown. The presence and degree of hepatic steatosis was found using FibroScan-touch-502 by measuring controlled attenuation parameter (CAP. The features of lifestyle and nutrition of children with steatosis were determined: hypodynamic lifestyle, the prevalence of fast food habits, insufficient consumption of liquid. It was established that hepatic steatosis is closely associated with obesity and hypothalamic disorders, increased both blood pressure and serum levels of atherogenic lipids.

  3. Genetics Home Reference: arrhythmogenic right ventricular cardiomyopathy

    ... cardiomyopathy Merck Manual Consumer Version: Cardiomyopathy Merck Manual Consumer Version: Overview of Abnormal Heart Rhythms Orphanet: Arrhythmogenic right ventricular cardiomyopathy Orphanet: Familial isolated arrhythmogenic right ventricular ...

  4. Distinguishing hypertrophic cardiomyopathy from athlete's heart physiological remodelling: clinical significance, diagnostic strategies and implications for preparticipation screening.

    Maron, B J

    2009-09-01

    Sudden cardiac death in young competitive athletes is an important public health problem, although a relatively low-event-rate phenomenon. The single most common cardiovascular cause of these unexpected catastrophes is hypertrophic cardiomyopathy (HCM), accounting for about one-third of cases. Since the phenotypic expression of HCM is variable, and not uncommonly includes patients with mild and localised left ventricular hypertrophy, the differential diagnosis with physiological remodelling of athlete's heart not uncommonly arises. This review discusses those non-invasive strategies that are useful in distinguishing the benign consequences of systematic athletic training from pathological left ventricular hypertrophy with the potential for sudden cardiac death. Preparticipation screening in healthy general athlete populations may raise the suspicion of HCM, and ultimately lead to definitive diagnosis. However, recently controversy has arisen regarding the most effective and practical strategy for the screening of athletes. European investigators have promoted routine 12-lead ECGs as part of a national mandatory programme distinct from the customary practice in the US which is limited to history and physical examinations. Consensus criteria and recommendations for eligibility and disqualification of athletes with HCM (and other cardiovascular abnormalities) have proved useful to the practising community.

  5. Clinical features and management of hereditary spastic paraplegia

    Ingrid Faber

    2014-03-01

    Full Text Available Hereditary spastic paraplegia (HSP is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions.

  6. Idiopathic granulomatous mastitis; Clinical presentation, radiological features and treatmant

    Aldaqal, Saleh M.

    2004-01-01

    To determine the clinical characteristic, clinical presentations and radiological features of diopathic granulomatous mastitis, and the best treatment approaches of this clinical entity. Between 1996 and 2003 the files and histopathology reports of 25 patients with granulomatous mastitis at King Abdul-Aziz University Hospital Jeddah, Kindom of Saudi Arabia were reviewed. The data were analyzed and a Medline search was carried out from 1970 to 2003 to review relevant cases. The age of patients ranged from 24-66 years and the mean age was 36.6+-9.43 years. All patients were females. The most common clinical presentation was palpable tender mass. The most common mammographic finding was ill-defined mass. However, mixed hypo- and hyper-echogenic lesions with tubular connections were the common ultrasonic findings. Treatment approaches were conservative or surgical excision or steroid. Conservative treatment associated with the higher rate of complications, while treatment with steroid showed complete remission of disease. Idiopathic granulomatous mastitis is a rare, benign breast disease that is usually underestimated or misdiagnosed. The clinical and radiological features resemble those of infectious mastitis or breast carcinoma. Early recognition and initiation of steroid treatment will result in complete remission of the disease and prevent complications. (author)

  7. Features of the Clinical Course of Adrenal Incidentalomas

    G.A. Alimukhamedova

    2014-03-01

    Full Text Available The objective of the study was to examine the clinical features of adrenal incidentalomas. 98 clinical observations of patients with adrenal incidentalomas receiving in- and out-patient treatment in the clinic of Republican Specialized Scientific and Practical Medical Centre of Endocrinology of Ministry of Healthcare of Republic of Uzbekistan were analyzed. Of them, 51 % — males, 49 % — females. General clinical observation included: thorough gaining of complaints; anamnesis morbi and vitae; assessment of somatic and endocrine statuses; clinical examination with measurement of blood pressure and body mass index; urinalysis; biochemical blood analysis. In addition, all patients underwent complete blood count with determination of blood potassium, sodium, chlorine, lipid profile, fasting blood glucose and oral glucose tolerance test, creatinine and urea; hormonal blood tests, including studies of plasma aldosterone and plasma renin activity in a horizontal position, adrenocorticotropic hormone, blood cortisol, as well as the daily excretion of catecholamines with urine. For topical diagnosis we used ultrasound, CT of adrenals. It was found that adrenal incidentalomas were detected in 37.8 % as a result of searching for the reason of arterial hypertension, in 23.5 % — of obesity and hypothalamus dysfunction, in 14.2 % — in abdominal pathology, in 12.2 % — of non-specific complaints, in 8.1 % — in exclusion of adrenal diseases, and in 4 % — in clinical supervision. Clinically they are characterized with nonspecific features with predominance of arterial hypertension (76.5 %, which is associated with adrenal pathology only 18.4 % of cases. Analysis of metabolic disorders revealed clinically significant changes as well. Of 98 examined patients, 70 % had metabolic disorders.

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

    Muriel eRIGOLET; Jessie eAOUIZERATE; Jessie eAOUIZERATE; Maryline eCOUETTE; Nilusha eTHANGARAJAH; Nilusha eTHANGARAJAH; Mehdi eAOUN-SEBAITI; Romain Kroum GHERARDI; Romain Kroum GHERARDI; Romain Kroum GHERARDI; Josette eCADUSSEAU; Josette eCADUSSEAU; Francois Jerome eAUTHIER; Francois Jerome eAUTHIER; Francois Jerome eAUTHIER

    2014-01-01

    Macrophagic myofasciitis (MMF) is an emerging condition characterized by specific muscle lesions assessing abnormal long-term persistence of aluminium hydroxide within macrophages at the site of previous immunization. Affected patients usually are middle-aged adults, mainly presenting with diffuse arthromyalgias, chronic fatigue, and marked cognitive deficits, not related to pain, fatigue or depression. Clinical features usually correspond to that observed in chronic fatigue syndrome/myalgic ...

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

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

    2014-01-01

    Macrophagic myofasciitis (MMF) is an emerging condition characterized by specific muscle lesions assessing abnormal long-term persistence of aluminum hydroxide within macrophages at the site of previous immunization. Affected patients usually are middle-aged adults, mainly presenting with diffuse arthromyalgias, chronic fatigue, and marked cognitive deficits, not related to pain, fatigue, or depression. Clinical features usually correspond to that observed in chronic fatigue syndrome/myalgic ...

  10. The clinical features of late onset anorexia nervosa.

    Joughin, N. A.; Crisp, A. H.; Gowers, S. G.; Bhat, A. V.

    1991-01-01

    This study examines clinical features of late onset anorexia nervosa. This involved the scrutiny of a large database of patients with anorexia nervosa comprising data gathered at standardized initial assessments over the period 1960-1990. Patients with a late onset were compared to other selected patient samples. The population comprised 12 patients with a first onset of anorexia nervosa at or after the age of 30, 415 patients with an onset after 15 but before 20 and 9 patients with an onset ...

  11. Clinical Features and Differential Diagnoses in Laryngeal Mucoepidermoid Carcinoma

    Mokhtari, Sepideh; Mokhtari, Saeedeh

    2011-01-01

    Mucoepidermoid carcinoma is the most common malignant tumor of salivary glands. However, it is a rare entity in larynx. Laryngeal cases are frequently misdiagnosed with other malignancies and they are under-reported. So, recognizing the clinical and histological features of this tumor is essential. Laryngeal mucoepidermoid carcinoma can arise in supraglottis, glottis and subglottis. Generally, it presents as a submucosal mass; therefore, progressive symptoms without any identifiable lesion in...

  12. Peripartum cardiomyopathy

    Ersboll, Anne S.; Damm, Peter; Gustafsson, Finn

    2016-01-01

    . The prevalence of concomitant preeclampsia is high (often 30-45%) and symptoms can be similar, posing diagnostic difficulties. Most women (71-98%) present postpartum. Echocardiography is essential for diagnosis, and cardiac magnetic resonance imaging may provide new insights to pathophysiology and prognosis....... Management is multidisciplinary and involves advanced heart failure therapy. Treatment, timing and mode of delivery in pregnant women depend on disease severity. The risk of relapse in subsequent pregnancies is >20%, and women are often advised against a new pregnancy. CONCLUSIONS: PPCM has a huge impact...... of pathophysiology, diagnostics and clinical management. MATERIAL AND METHODS: Systematic literature searches were performed in PubMed and Embase up to June 2016. Cohorts of more than 20 women with PPCM conducted after 2000 were selected to report contemporary outcomes and prognostic data. Guidelines and reviews...

  13. Reversible Stress Cardiomyopathy Presenting as Acute Coronary Syndrome with Elevated Troponin in the Absence of Regional Wall Motion Abnormalities: A Forme Fruste of Stress Cardiomyopathy?

    Mahesh Anantha Narayanan

    2014-01-01

    Full Text Available We present a case of reversible stress cardiomyopathy in a surgical patient, described here as a forme fruste due to its atypical features. It is important to recognize such unusual presentation of stress cardiomyopathy that mimics acute coronary syndrome. Stress cardiomyopathy commonly presents as acute coronary syndrome and is characterized by typical or atypical variants of regional wall motion abnormalities. We report a 60-year-old Caucasian male with reversible stress cardiomyopathy following a sternal fracture fixation. Although the patient had several typical features of stress cardiomyopathy including physical stress, ST-segment elevation, elevated cardiac biomarkers and normal epicardial coronaries, there were few features that were atypical, including unusual age, gender, absence of regional wall motion abnormalities, high lateral ST elevation, and high troponin-ejection fraction product. In conclusion, this could represent a forme fruste of stress cardiomyopathy.

  14. A case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern

    Otsui K

    2012-04-01

    Full Text Available Kazunori Otsui, Nobutaka Inoue, Anna Tamagawa, Kazuo OnishiDepartment of Cardiovascular Medicine, Kobe Rosai Hospital, Kobe, JapanAbstract: A 61-year-old diabetic woman with a mitochondrial A3243G mutation was hospitalized for evaluation of breathlessness, general fatigue, and leg edema. Chest radiography revealed cardiomegaly with massive pleural effusion. Serum lactate, pyruvate, and brain natriuretic peptide concentrations were elevated. Transthoracic echocardiography revealed a restrictive pattern of transmitral flow, although systolic function of the left ventricle was only mildly impaired. Based on these findings and her clinical course, the patient was diagnosed with right-sided heart failure caused by mitochondrial cardiomyopathy associated with a restrictive transmitral filling pattern. Treatment with furosemide, enalapril, and eplerenone was effective, and improvement in her symptoms was associated with amelioration of transthoracic echocardiographic findings and a reduction in serum brain natriuretic peptide levels. Previous reports have indicated heterogeneity in the clinical features of mitochondrial cardiomyopathy in patients carrying the A3243G mutation; the present case highlights the substantial variability in the clinical features of this disease.Keywords: mitochondrial disease, A3243G mutation, diastolic dysfunction, transmitral flow

  15. Dynamic electrocardiographic changes in patients with arrhythmogenic right ventricular cardiomyopathy.

    Quarta, Giovanni

    2010-04-01

    Electrocardiographic (ECG) abnormalities of depolarisation and repolarisation contribute to the diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC). The development of diagnostic ECG features were investigated in a genotyped cohort with ARVC to provide more sensitive markers of early disease.

  16. Contrast-enhanced T1 mapping-based extracellular volume fraction independently predicts clinical outcome in patients with non-ischemic dilated cardiomyopathy: a prospective cohort study

    Youn, Jong-Chan [Hallym University College of Medicine, Division of Cardiology, Dongtan Sacred Heart Hospital, Hwaseong (Korea, Republic of); Yonsei University College of Medicine, Division of Cardiology, Severance Cardiovascular Hospital, Seoul (Korea, Republic of); Hong, Yoo Jin; Lee, Hye-Jeong; Han, Kyunghwa; Suh, Young Joo; Hur, Jin; Kim, Young Jin; Choi, Byoung Wook [Yonsei University College of Medicine, Department of Radiology, Research Institute of Radiological Science, Severance Hospital, Seoul (Korea, Republic of); Shim, Chi Young; Hong, Geu-Ru; Kang, Seok-Min [Yonsei University College of Medicine, Division of Cardiology, Severance Cardiovascular Hospital, Seoul (Korea, Republic of)

    2017-09-15

    We aimed to evaluate the prognostic role of cardiac magnetic resonance imaging (CMR)-based extracellular volume fraction (ECV) in patients with non-ischemic dilated cardiomyopathy (NIDCM) and compare it with late gadolinium enhancement (LGE) parameters. This was a single-center, prospective, cohort study of 117 NIDCM patients (71 men, 51.9 ± 16.7 years) who underwent clinical 3.0-T CMR. Myocardial ECV and LGE were quantified on the left ventricular myocardium. The presence of midwall LGE was also detected. Nineteen healthy subjects served as controls. The primary end points were cardiovascular (CV) events defined by CV death, rehospitalization due to heart failure, and heart transplantation. During the follow-up period (median duration, 11.2 months; 25{sup th}-75{sup th} percentile, 7.8-21.9 months), the primary end points occurred in 19 patients (16.2%). The ECV (per 3% and 1% increase) was associated with a hazard ratio of 1.80 and 1.22 (95% confidence interval [CI], 1.48-2.20 and 1.14-1.30, respectively; p < 0.001) for the CV events. Multivariable analysis also indicated that ECV was an independent prognostic factor and had a higher prognostic value (Harrell's c statistic, 0.88) than LGE quantification values (0.77) or midwall LGE (0.80). CMR-based ECV independently predicts the clinical outcome in NIDCM patients. (orig.)

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

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

    2014-08-01

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

  18. Multifocal dystonia, Clinical feature of Hallervorden-Spatz

    Ghelichkhani H

    1998-09-01

    Full Text Available Hallervorden-spatz disease is an inherited metabolic disorder with autosomal recessive trait. Onset is in late childhood or early adolescence. Clinical manifestation is variable but pyramidal and extrapyramidal signs are often prominent. Many of patients show progressive dementia and extrapyramidal symptoms. Ataxia or myoclonus is reported in the course of the disease in individual cases. Focal dystonias including tongue, eyelids (blepharospasm and optic atrophy, retinitis pigmentosa, rarely familial parkinsonism are also reported. Pathologically pigmentary degeneration of globus pallidus, substantia nigra (pars reticular and red nucleus is characteristic. In our case the main clinical feature was multifocal dystonia without obvious pyramidal or other extrapyramidal symptoms, and diagnosis was based on clinical and MRI findings.

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

    Seong Joon Ahn

    2014-06-01

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

  20. What Is Cardiomyopathy?

    ... underlying conditions, such as diabetes and high blood pressure . Cardiomyopathy often runs in families. Your doctor may suggest that your parents, brothers and sisters, and children get checked to see whether they have the ...

  1. The clinical and mammographic features of plasma cell mastitis

    Wu Xiurong; Luo Xiaohua; Yu Xuming; Zhong Shan; Huang Yufan; Wu Xinyi; Lin Yubin

    2007-01-01

    Objective: To investigate the clinical and mammographic features of plasma cell mastitis. Methods: Twenty-five patients (28 lesions) with histologically confirmed plasma cell mastitis, aged from 26 to 70 years (mean age 41 years), were examined with X-ray mammography. The clinical manifestations and imaging features were retrospectively reviewed. Results: No case was in lactation. The painful irregular masses, ranged from 1.3 to 8cm in size, were found in 22 patients, while 3 patients with acute episode. Recurrent episodes of breast masses were noted in 4 patients. Based on the mammographic appearances, the plasma cell mastitis were classified as the following four types: inflammation-like type (2/28), ductal ectasia type (3/28), focal infiltration type (10/28) and nodular type (13/28). The valuable radiographic signs: (1) An asymmetrically increased density along the lactiferous duct with a flame-like appearance, inhomogeneous low density tubular structures and scattered stick-shape calcifications. (2) Architectural distortion and oil cysts formation in adjacent area, (3) Subareolar ductal ectasia. Conclusions: The clinical and mammographic characteristics of plasma cell mastitis are critical to avoiding unnecessary surgery. Histopathological result is needed for the diagnosis in patients highly suspected of malignancy. (authors)

  2. Pilonidal sinus disease - Etiological factors, pathogenesis and clinical features

    Kazim Duman

    2016-12-01

    Full Text Available and lsquo;Pilonidal sinus' disease, which is most commonly seen in reproductive populations, such as young adults - mostly in males who are in their twenties - is actually a controversial disease in that there is no consensus on its many facets. It is sometimes seen as an infected abscess draining from an opening or a lesion extending to the perineum. It may also present as a draining fistula opening to skin. In terms of etiological factors, various theories (main theories being congenital and acquired have been established since it was first described, no universal understanding achieved. A long and significant post-operative care period with different lengths of recovery depending on the type of operation are quite prevalent with regards to recurrence and complication status. In order to prevent recurrence and improve the quality of life, etiological and predisposing factors as well as clinical features of sacrococcygeal pilonidal disease should be well known, a detailed differential diagnosis should be made, and a suitable and timely intervention should be performed. It was aimed here to explain the etiological factors, pathogenesis and clinical features of the disease that may present with various clinical symptoms. [Arch Clin Exp Surg 2016; 5(4.000: 228-232

  3. [Genetic mutation and clinical features of osteogenesis imperfecta type V].

    Guan, Shizhen; Bai, Xue; Wang, Yi; Liu, Zhigang; Ren, Xiuzhi; Zhang, Tianke; Ju, Mingyan; Li, Keqiu; Li, Guang

    2017-12-10

    To explore genetic mutations and clinical features of osteogenesis imperfecta type V. Clinical record of five patients (including one familial case) with osteogenesis imperfecta type V were retrospectively analyzed. Peripheral blood samples of the patients, one family member, as well as healthy controls were collected. Mutation of IFITM5 gene was identified by PCR amplification and Sanger sequencing. A heterozygous mutation (c.-14C>T) in the 5-UTR of the IFITM5 gene was identified in all of the patients and one mother. The clinical findings included frequent fractures and spine and/or extremities deformities, absence of dentinogenesis imperfecta, absence of hearing impairment, and blue sclera in 1 case. Radiographic findings revealed calcification of the interosseous membrane between the radius-ulna in all cases. Hyperplastic callus formation was found in 3 cases. Four had radial-head dislocation. A single heterozygous mutation c.-14C>T was found in the 5-UTR of the IFITM5 gene in 5 patients with osteogensis imperfecta type V. The patients showed specific radiological features including calcification of interosseous membrane, hyperplastic callus formation, and radial-head dislocation.

  4. Overlapping Clinical Features Between NAFLD and Metabolic Syndrome in Children

    Anna Alisi

    2014-05-01

    Full Text Available Non-alcoholic fatty liver disease (NAFLD is a cluster of pathological liver conditions of emerging importance in overweight and obese children. NAFLD is associated with central obesity, insulin resistance, and dyslipidaemia, which are considered to be the main features of metabolic syndrome (MetS. Prevention of the adverse outcomes of NAFLD, as well as the risk of MetS, depends on the identification of genetic background and environmental factors that modulate susceptibility to these diseases. However, several lines of evidence highlight the strong correlation and co-currency of these two chronic diseases, both in children and in adults. In the present review, we provide an overview of the current clinical proofs on the link between NAFLD and MetS in children, with particular focus on all the possible overlapping features that connect them at paediatric age.

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

    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.

  6. Clinical and microbiological features of melioidosis in northern Vietnam.

    Phuong, Doan Mai; Trung, Trinh Thanh; Breitbach, Katrin; Tuan, Nguyen Quang; Nübel, Ulrich; Flunker, Gisela; Khang, Dinh Duy; Quang, Nguyen Xuan; Steinmetz, Ivo

    2008-12-01

    Sporadic cases of melioidosis have been reported from Vietnam for decades, but clinical and epidemiological data for the indigenous population are still scarce. In this study, we reviewed clinical and demographic data of patients with culture-proven melioidosis diagnosed at a single large referral hospital in Hanoi between November 1997 and December 2005. We found that the clinical manifestations of melioidosis (with fatal septicaemia as the most common presentation), a high rate of underlying diseases, and a peak of cases admitted during the wet season, were similar to studies from other endemic areas. The geographical origin of patients with melioidosis showed that melioidosis existed in at least 18 northern provinces. The characterization of clinical Burkholderia pseudomallei strains by multilocus sequence typing identified 17 different sequence types (STs), 11 of which have (as yet) not been found outside Vietnam. Several of these STs presumably were generated through recent evolutionary events in this rapidly diversifying bacterial species, and thus, restricted geographic distribution may be a consequence of limited time passed since emergence. To our knowledge, this is the first report on a series of cases describing clinical and epidemiological features of melioidosis and corresponding B. pseudomallei strains from northern Vietnam.

  7. Analysis of clinical features and risk factors for infective endocarditis

    Wang Li; Zhao Liangping; Xu Weiting; Chen Jianchang; Tong Guangming; Hong Xiaosu

    2012-01-01

    Objective: To analyze the clinical features of infective endocarditis (IE) and explore the risk factors for it's prognosis. Methods: Clinical data of 65 patients with IE were acquired retrospectively, and its causes, clinical characteristics, pathogenic microorganism, clinical outcomes were analyzed. Results: The major occurring heart diseases for IE in all patients were rheumatic heart disease, congenital heart disease, and there was no any previously known heart disease. The major clinical manifestations included fever and anemia. The major pathogenic bacteria is streptococcus, but percentage of other bacteria increased gradually. Thirteen patients were refractory, in hospital. Haematoglobin and seralbumin were significantly lower, and leucocyte, hsCRP, erythrocyte sedimentation were significantly higher in refractory group. Anaemia, lower seralbumin, higher hsCRP were independent predictors for bad prognosis. Conclusion: The proportion of rheumatic heart disease is decreasing as one of the risk factors for IE in recent years. Streptococcus is major pathogen of IE, and the mortality of IE is still very high. Anaemia, lower seralbumin, higher hsCRP are independent predictors for bad prognosis. (authors)

  8. Difference in myocardial flow reserve between patients with dilated cardiomyopathy and those with dilated phase of hypertrophic cardiomyopathy. Evaluation by 15O-water PET

    Ohba, Muneo; Kambara, Naoshige; Hosokawa, Ryohei

    2007-01-01

    The clinical features of patients with the dilated phase of hypertrophic cardiomyopathy (DHCM) may resemble those of patients with dilated cardiomyopathy (DCM); that is, systolic dysfunction and left ventricular dilatation. Myocardial flow reserve (MFR) is impaired in patients with nonischemic cardiomyopathy, and the reduced MFR may be related to poor prognosis. Several studies report that the mortality rate for patients with DHCM is higher than for DCM, but the difference between these 2 cardiomyopathies is still unclear. The purpose of this study was to assess the MFR of these 2 cardiomyopathies, using 15 O-water positron emission tomography (PET) to elucidate their differences. In total 30 patients were investigated: 23 with DCM (Group A) and 7 with DHCM (Group B). All those who were in a stable condition underwent cardiac catheterization. Myocardial blood flow (MBF) at rest and under adenosine 5'-triphosphate (ATP) infusion was measured by 15 O-water PET, and the MFR was calculated. There were no significant differences in the hemodynamics of the 2 groups. The mean MFR in DHCM was significantly lower than that in DCM (1.49±0.31 vs 2.62±1.08; p=0.042), whereas MBF at rest did not differ (DCM vs DHCM: 0.66±0.20 vs 0.49±0.05 ml·min -1 ·g -1 ; no significance (NS)). The MFR in both Group A and B was significantly decreased compared with the normal controls (MFR in normal controls: 5.15±1.64, p=0.00015, 0.00013, respectively). These results suggest that impaired vasodilatation (ie, dysfunction of the microcirculation) is more severe in patients with DHCM than in patients with DCM, even though patients' characteristics and hemodynamics do not differ. (author)

  9. Uncovering Clinical Features of De Novo Philadelphia Positive Myelodysplasia.

    Armas, Aristides; Chen, Chen; Mims, Martha; Rivero, Gustavo

    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.

  10. [Clinical features of 32 patients with cutaneous small vessel vasculitis].

    López de Maturana, Donaldo; Amaro, Patricio; Segovia, Laura; Balestrini, Claudia

    2004-02-01

    The skin is a common target of small vessel vasculitis, with a wide assortment of pathological changes. This condition is usually associated to systemic diseases. To report the clinical and pathological features of patients with cutaneous small vessel vasculitis. A retrospective review of 32 patients with a pathological diagnosis of cutaneous vasculitis. Seventy two percent of patients were women. Cutaneous lesions were mainly located in the lower limbs (94%). The most common lesion was palpable purpura (62%). Connective tissue diseases and systemic vasculitis were the most commonly associated systemic diseases. Palpable purpura is the most common manifestation of cutaneous small vessel vasculitis, that is usually associated to connective tissue diseases or systemic vasculitis.

  11. Clinical and Biological Features of Interval Colorectal Cancer

    Yu Mi Lee

    2017-05-01

    Full Text Available Interval colorectal cancer (I-CRC is defined as a CRC diagnosed within 60 months after a negative colonoscopy, taking into account that 5 years is the “mean sojourn time.” It is important to prevent the development of interval cancer. The development of interval colon cancer is associated with female sex, old age, family history of CRC, comorbidities, diverticulosis, and the skill of the endoscopist. During carcinogenesis, sessile serrated adenomas/polyps (SSA/Ps share many genomic and colonic site characteristics with I-CRCs. The clinical and biological features of I-CRC should be elucidated to prevent the development of interval colon cancer.

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

    Lorenzo Maggi

    2016-08-01

    Full Text Available 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.

  13. Noonan syndrome: clinical features, diagnosis, and management guidelines.

    Romano, Alicia A; Allanson, Judith E; Dahlgren, Jovanna; Gelb, Bruce D; Hall, Bryan; Pierpont, Mary Ella; Roberts, Amy E; Robinson, Wanda; Takemoto, Clifford M; Noonan, Jacqueline A

    2010-10-01

    Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and currently explain ∼61% of NS cases. Thus, NS frequently remains a clinical diagnosis. Because of the variability in presentation and the need for multidisciplinary care, it is essential that the condition be identified and managed comprehensively. The Noonan Syndrome Support Group (NSSG) is a nonprofit organization committed to providing support, current information, and understanding to those affected by NS. The NSSG convened a conference of health care providers, all involved in various aspects of NS, to develop these guidelines for use by pediatricians in the diagnosis and management of individuals with NS and to provide updated genetic findings.

  14. Clinical and radiological features of bronchiolitis obliterans in children

    Peng Yun; Sun Guoqiang; Zeng Jinjin; Ma Daqing

    2006-01-01

    Objective: To study the value of chest radiograph and thin-section computed tomography (CT) in diagnosis bronchiolitis obliterans in children, and to determine clinical view of obliterative bronchiolitis in children. Methods: We identified 12 infants, 10 boys, and 2 girls (age range, 5 month to 11 years) with clinical confirmation of bronchiolitis obliterans. Three cases were after Steven-Johnson syndrome, 8 were post-infection (2 adenovirus, 2 measles and 1 Pseudomonas aeruginosa infection, 3 cases were unknown etiology infection); The symptoms lasted for at least 6 weeks. One case had lung ventilation nuclear scan. We evaluated individual bronchoscopy, pulmonary function test, chest radiograph and thin- section CT features and their characteristic appearance. Results: All cases had typical clinical characteristics and pulmonary function testing results that were consistent with nonreversible small airways obstruction. One case had lung ventilation nuclear scan illustrated absent and reduced ventilation of the right lower lobe. Nine cases who underwent bronchoscopy were chronic endobronchial inflammation. Three children had transbronchial biopsy and 1 patient who underwent open pulmonary biopsies were uncertain of histological diagnosis. Chest radiography showed hyperinflation in 8 cases; peribronchial thickening in 6 cases; consolidation/atelectasia in 6 cases; unilateral hyperlucency of a small/normal-sized lung in 4 cases. Thin-section CT/HRCT features included: mosaic perfusion pattern, decreased lung attenuation in 11 cases, pulmonary vascular attenuation in 10 cases; bronchial dilatation in 7 cases; bronchial wall thickening in 9 cases; unilateral hyperlucency of a small/normal-sized lung in 5 cases; consolidation in 6 cases; nodular in 3 cases; mucoid impaction in 5 cases. Conclusions: In our study, correct diagnoses of bronchiolitis obliterans in children were made more special with thin-section CT than with chest radiographs. The diagnosis of BO in

  15. Ebola outbreak in Conakry, Guinea: epidemiological, clinical, and outcome features.

    Barry, M; Traoré, F A; Sako, F B; Kpamy, D O; Bah, E I; Poncin, M; Keita, S; Cisse, M; Touré, A

    2014-12-01

    The authors studied the epidemiological, clinical, and outcome features of the Ebola virus disease in patients hospitalized at the Ebola treatment center (ETC) in Conakry to identify clinical factors associated with death. A prospective study was conducted from March 25 to August 20, 2014. The diagnosis of Ebola virus infection was made on real-time PCR. Ninety patients, with a positive test result, were hospitalized. Their mean age was 34.12±14.29 years and 63% were male patients. Most worked in the informal sector (38%) and in the medical and paramedical staff (physicians 12%, nurses 6%, and laboratory technicians 1%). Most patients lived in the Conakry suburbs (74%) and in Boffa (11%). The main clinical signs were physical asthenia (80%) and fever (72%). Hemorrhagic signs were observed in 26% of patients. The comparison of clinical manifestations showed that hiccups (P=0.04), respiratory distress (P=0.04), and hemorrhagic symptoms (P=0.01) were more frequent among patients who died. Malaria (72%) and diabetes (2%) were the most frequent co-morbidities. The crude case fatality rate was 44% [95% confidence interval (33-54%)]. The average hospital stay was 7.96±5.81 days. The first Ebola outbreak in Conakry was characterized by the young age of patients, discrete hemorrhagic signs related to lethality. Its control relies on a strict use of preventive measures. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  16. Gender effect on clinical features of achalasia: a prospective study

    Mahdavinia Mahboobeh

    2006-04-01

    Full Text Available Abstract Background Achalasia is a well-characterized esophageal motor disorder but the rarity of the disease limits performing large studies on its demographic and clinical features. Methods Prospectively, 213 achalasia patients (110 men and 103 women were enrolled in the study. The diagnosis established by clinical, radiographic, and endoscopic as well as manometry criteria. All patients underwent a pre-designed clinical evaluation before and within 6 months after the treatment. Results Solid dysphagia was the most common clinical symptom in men and women. Chest pain was the only symptom which was significantly different between two groups and was more complained by women than men (70.9% vs. 54.5% P value= 0.03. Although the occurrence of chest pain significantly reduced after treatment in both groups (P Conclusion It seems that chest pain is the distinct symptom of achalasia which is affected by sex as well as age and does not relate to the duration of illness, LESP and the type of treatment achalasia patients receive.

  17. Frank-ter Haar syndrome with unusual clinical features.

    Dundar, Munis; Saatci, Cetin; Tasdemir, Sener; Akcakus, Mustafa; Caglayan, Ahmet Okay; Ozkul, Yusuf

    2009-01-01

    Frank-ter Haar syndrome first recognized by Frank et al. [Y. Frank, M. Ziprkowski, A. Romano, R. Stein, M.B. Katznelson, B. Cohen, R.M. Goodman, Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome?, J. Genet. Hum. 21 (1973) 67-72.] and subsequently confirmed by ter Haar et al. [B. Ter Haar, B. Hamel, J. Hendriks, J. de Jager, Melnick-Needles syndrome: indication for an autosomal recessive form, Am. J. Med. Genet. 13 (1982) 469-477.]. The main clinical features of the syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macro cornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers [S.M. Maas, H. Kayserili, J. Lam, M.Y. Apak, R.C. Hennekam, Further delineation of Frank-ter Haar syndrome, Am. J. Med. Genet. 131 (2004) 127-133.]. We report a child with Frank-ter Haar syndrome presenting unusual clinical features. Hypopigmented areas in hair, bilateral adducted thumb, bilateral contractures in elbows and pelvic limb, atrial septal defect have not been described previously in the literature. Our patient also had double-outlet right ventricle.

  18. Clinical and epidemiological features of AIDS/tuberculosis comorbidity

    Song Alice Tung Wan

    2003-01-01

    Full Text Available Considering the relevance of AIDS/tuberculosis comorbidity worldwide, especially in Brazil, this study was developed to describe the clinical and epidemiological features of the comorbid cases identified from 1989 to 1997 by the epidemiology service of the Hospital das Clínicas of the Universidade de São Paulo. METHODS: Databases containing information on all identified AIDS/tuberculosis cases cared for at the hospital were used to gather information on comorbid cases. RESULTS: During the period, 559 patients were identified as presenting with AIDS/tuberculosis comorbidity. Risk behavior for AIDS was primarily heterosexual contact (38.9%, followed by intravenous drug use (29.3% and homosexual/bisexual contact (23.2%. Regarding clinical features, there were higher rates of extrapulmonary tuberculosis when compared to tuberculosis without comorbidity. There was an increase in reporting of AIDS by ambulatory units during the period. Epidemiologically, there was a decrease in the male/female ratio, a predominance in the 20 to 39 year-old age group, and a majority of individuals who had less than 8 years of schooling and had low professional qualifications. CONCLUSIONS: High rates of AIDS/tuberculosis cases at our hospital indicate the need for better attention towards early detection of tuberculosis, especially in its extrapulmonary form. Since the population that attends this hospital tends to be of a lower socioeconomic status, better management of AIDS and tuberculosis is required to increase the rates of treatment adherence and thus lower the social costs.

  19. Clinical feature and imaging findings of juvenile ankylosing spondylitis

    Zeng Hui; Liang Hongchang; Wang Weigang; Liu Hui; Huang Meiping; Zheng Junhui

    2003-01-01

    Objective: To analyze the clinical features and imaging findings of juvenile ankylosing spondylitis (JAS) in order to improve the diagnosis and the prognosis of JAS. Methods: Twelve cases were analyzed retrospectively and 14 cases, who were followed-up averagely for 2.3 years, were analyzed prospectively. Initially 10 were diagnosed as Still's disease and four were diagnosed as rheumatoid arthritis. Photography was performed in all cases, CT scan was done in 18 cases, and MRI in 8 cases. Lower extremity big joint disorders were observed in all cases and the small joints were reserved. The abnormalities of the sacroiliac joint were revealed in the early stage in 12 cases. The results were analyzed statistically. Results: The age of preliminary diagnosis was 9.3 years in average. There were statistical correlation between the age of the first episode and severity of the disease. And there were statistical correlation between the course of the illness and severity of the disease. The large joints of the lower extremities were most commonly involved. Conclusion: There were characteristic clinical features and imaging findings in the JAS. Early diagnosis and treatment improve the prognosis

  20. Clinical features and multidisciplinary approaches to dementia care

    Gr

    2011-05-01

    pathological burden. Future research goals are outlined, with a call to action for social policy initiatives that promote preventive lifestyle behaviors, and healthcare programs that will support the growing number of individuals affected by dementia.Keywords: dementia, Alzheimer’s disease, clinical features, multidisciplinary care, BPSD, prodromal dementia

  1. Clinical and imaging features of neonatal chlamydial pneumonia

    Cao Yongli; Peng Yun; Sun Guoqiang

    2012-01-01

    Objective: To study the clinical and imaging features of chlamydial pneumonia in newborns. Methods: Medical records,chest X-Ray and CT findings of 17 neonates with chlamydia pneumonia were reviewed. The age was ranged from 9.0 to 28.0 days with mean of (16.8 ± 5.8) days. There were 11 males and 6 females. Sixteen were full term infants and one was born post term. All babies were examined with chest X-ray film, and 13 patients also underwent chest CT scan. Serologic test using immunofluorescence method for Chlamydia IgG and IgM antibodies were performed in all patients. Results: All newborns presented with cough but without fever. Positive results of the serologic tests were demonstrated. Chest films showed bilateral hyperventilation in 10 patients, diffuse reticular nodules in 10 patients including nodules mimicking military tuberculosis in 7 patients, and accompanying consolidation in 9 patients. CT features included interstitial reticular nodules in 13 patients with size, density, and distribution varied. Subpleural nodules (11 patients) and fusion of nodules (10 patients) predominated. Bilateral hyperinflation was found in 10 patients, which combined with infiltration in 12 patients, thickening of bronchovascular bundles in 10 patients, and ground glass sign in 5 patients. No pleural effusion and lymphadenopathy was detected in any patient. Conclusions: Bilateral hyperinflation and diffuse interstitial reticular nodules were the most common imaging features of neonatal chlamydial pneumonia. The main clinical characteristic of neonatal chlamydial pneumonia is respiratory symptoms without fever, which is helpful to its diagnosis. (authors)

  2. [Clinical feature of chronic compressive optic neuropathy without optic atrophy].

    Jiang, Libin; Shi, Jitong; Liu, Wendong; Kang, Jun; Wang, Ningli

    2014-12-01

    To investigate the clinical feature of the chronic compressive optic neuropathy without optic atrophy. Retrospective cases series study. The clinical data of 25 patients (37 eyes) with chronic compressive optic neuropathy without optic atrophy, treated in Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, from October, 2005 to March, 2014, were collected. Those patients had been showing visual symptoms for 6 months or longer, but missed diagnosed or misdiagnosed as other eye diseases due to their normal or slightly changed fundi. The collected data including visual acuities, visual fields, neuroimaging and/or pathologic diagnosis were analyzed. Among the 25 patients, there were 5 males and 20 females, and their ages range from 9 to 74 years [average (47.5 ± 13.4) years]. All patients suffered progressive impaired vision in single eye or both eyes, without exophthalmos or abnormal eye movements. Except one patient had a headache, other patients did not show systemic symptoms. The corrected visual acuities were between HM to 1.0, and their appearances of optic discs and colors of fundi were normal. After neuroimaging and/or pathological examination, it was proven that 14 patients suffered tuberculum sellae meningiomas, 5 patients with hypophysoma, 3 patient with optic nerve sheath meningioma in orbital apex, 1 patient with cavernous hemangioma, 1 patient with vascular malformation in orbital apex and 1 patient with optic nerve glioma. Among the 19 patients whose suffered occupied lesions of saddle area, 14 patients underwent visual field examinations, and only 4 patients showed classic visual field defects caused by optic chiasmal lesions. Occult progressive visual loss was the most important clinical feature of the disease.

  3. Eosinophilic Esophagitis: Clinical Features, Endoscopic Findings and Response to Treatment

    Robert Enns

    2010-01-01

    Full Text Available Eosinophilic esophagitis (EE is a motility disorder of the esophagus that typically presents with dysphagia. The objective of the present study was to explore patient characteristics, clinical and endoscopic features, and response to treatment of patients with EE. Patients were selected retrospectively based on a review of biopsy results from previous endoscopies performed between 2004 and 2008. A total of 54 patients (41 men and 13 women with biopsy-proven EE were included in the study. Further information regarding the patients’ clinical and endoscopic features, and response to treatment were obtained through chart reviews and patient telephone interviews. The mean age of the patients at symptom onset was 30 years. All patients complained of dysphagia, 81% had a history of bolus obstruction, 43% had a history of asthma and 70% had a history of environmental allergies. Thirty-three per cent had a family history of asthma, while 52% had a family history of food or seasonal allergies. The most common endoscopic findings were rings and/or corrugations, which were found in 63% of patients. Swallowed fluticasone therapy resulted in symptom resolution in 74% of patients; however, 79% of these patients relapsed after discontinuing fluticasone therapy and required repeat treatments. Esophageal dilation was complication free and resulted in improvement in 80% of patients. However, 83% of those reporting improvement relapsed within one year. The clinical and endoscopic findings were similar to those found in the literature, with most patients requiring ongoing, repeated therapies. Further studies are needed to assess the safety and efficacy of treatment modalities ideally suited to patients with EE.

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

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

    2008-10-01

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

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

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

    Zohreh Rahimi

    2013-01-01

    Full Text Available 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 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.

  7. Clinical features and etiology of retinal vasculitis in Northern Thailand

    Supanut Apinyawasisuk

    2013-01-01

    Full Text Available Purpose: To report on the clinical features and etiology of patients with retinal vasculitis (RV. Materials and Methods: We reviewed medical records of 47 patients (75 affected eyes diagnosed with RV. Clinical presentations, ocular complications, associated systemic diseases, and treatment regimens were registered. Results: Etiology of RV included infectious causes in 10/47, (21% while an association with systemic and/or ocular non-infectious disorders was noted in 22/47 (47%. Eales′ disease and Behcet′s disease represented the most common clinical entities in non-infectious group while tuberculosis-associated RV was diagnosed in 6/10 (60% among those with infectious disorders. RV was bilateral in 28/47 (60% patients. Retinal veins were most commonly affected (72%, 34/47. Involvement of arteries was present in 12/47 (25% and was associated with viral infections and Behcet′s disease. Ocular complications developed in 60/75 (80% eyes. The most common complications were elevated intraocular pressure and/or glaucoma (33/75, 44%. Retinal detachment, vitreous hemorrhage, and cystoid macular edema developed in similar percentages (15%. Conclusions: RV in Thailand manifested mostly in male patients, was typically bilateral and involved mostly veins. Involvement of arteries was observed in patients with viral infections and Behcet′s disease. Tuberculosis was the most common infectious cause.

  8. Autoimmune hepatitis: diagnostic criteria, subclassifications, and clinical features.

    McFarlane, Ian G

    2002-08-01

    The diagnosis of AIH depends on the finding of several suggestive features together with careful exclusion of liver diseases of other etiologies. Wherever possible, the diagnosis should be confirmed histologically by an experienced hepatopathologist. Seronegativity for the conventional autoantibodies at presentation does not exclude a diagnosis of AIH. It is important to test for anti-LKM1 antibodies to avoid missing a diagnosis of type 2 AIH, with potentially serious consequences. Although the syndrome is associated with characteristic biochemical abnormalities, and biochemical parameters are commonly used for monitoring response to therapy, it should be borne in mind that neither these nor autoantibody titers are completely reliable indices of disease activity. Although the various systems that have been promulgated for classification of the disease may identify different groups of patients on pathogenetic or clinical criteria and are useful for research purposes, none is yet sufficiently exclusive in terms of defining prognosis or planning treatment strategies to be applicable to the individual patient seen in the clinic. Clinical management should therefore continue to be individually tailored.

  9. Features of clinical and radiographic appearances of SARS in children

    Zeng Jinjin; Sun Guoqiang; Shen Kunling; Yang Yonghong; Wei Xinmiao; Lei Gang

    2003-01-01

    Objective: To evaluate the features of clinical and radiographic appearances of SARS in children. Methods: The chest films obtained at clinical presentation and during treatment in 18 children with confirmed SARS were retrospectively evaluated. Results: The main X-ray manifestations included: (1) air-space opacity in 13/18; (2) round lesion with clear margin in 3/18; (3) ground-glass lesions in 2/18; (4) unilateral and single focal involvement was more common in children than in adults (5) no reticular shadow, lymphanopathy or pleural effusion was demonstrated; (6) radiographic changes of foci was not as rapid in children as in adults. The lesions migrated in 1 case. The average absorption time of the lesions was 19 days, and most of them had no remnant. Conclusion: Compare with that in adults , the clinical manifestation was not so severe in children with SARS, and most of the infected children had clear contact history. Chest X-ray appearance in affected children mainly showed unilateral involvement of the lungs with chiefly air-space infiltrates. Remnant lesion of lung is rare in children. Differential diagnosis of SARS in children includes mycoplasma pneumonia or adenovirus pneumonia

  10. Takotsubo cardiomyopathy following subarachnoid hemorrhage

    Wajnberg, Eduardo

    2012-01-01

    Takotsubo cardiomyopathy corresponds to a syndrome characterized by a transient myocardial dysfunction affecting the left ventricular apex that classically occurs after major physical or emotional stress (also called 'broken heart syndrome' or 'stress-induced cardiomyopathy'). The author describes the case of a patient with takotsubo cardiomyopathy induced by subarachnoid hemorrhage. (author)

  11. Clinical Investigation of Radiation Retinopathy Fundus and Fluorescein Angiographic Features

    LiMei; QiuGT

    1999-01-01

    Purpose:To investigate the fundus and fluorescein angiographic features in the patients with radiation retinopathy.Clinical Materials:Color fundus photography and/or fluorescein angiography from 13 patients with nasopharyngeal carcinomas received external beam radiation were retrospectively analyzed.Reslts:In this study,26 damaged eyes of 13 patients eveloped some degree of radiation retinopathy.The earliest and most common finding was macular microvascular changes (microaneurysms and/or telangiectasia),which was observed in 100%(26/26)of the eyes.Intraretinal hemorrhages,macular capillary nonperfusion,and macular edema were noted in 84%,50%,and 42% of the eyes,respectively.Conclusions:Radiation retinopathy is common after external beam radiation of nasopharyngeal carcinomas.The prominent changes include maular microvascular changes,intraretinal hemorrhages and macular capillary nonperfusion.

  12. Clinical and echocardiographic features of aorto-atrial fistulas

    Ananthasubramaniam Karthik

    2005-01-01

    Full Text Available Abstract Aorto-atrial fistulas (AAF are rare but important pathophysiologic conditions of the aorta and have varied presentations such as acute pulmonary edema, chronic heart failure and incidental detection of the fistula. A variety of mechanisms such as aortic dissection, endocarditis with pseudoaneurysm formation, post surgical scenarios or trauma may precipitate the fistula formation. With increasing survival of patients, particularly following complex aortic reconstructive surgeries and redo valve surgeries, recognition of this complication, its clinical features and echocardiographic diagnosis is important. Since physical exam in this condition may be misleading, echocardiography serves as the cornerstone for diagnosis. The case below illustrates aorto-left atrial fistula formation following redo aortic valve surgery with slowly progressive symptoms of heart failure. A brief review of the existing literature of this entity is presented including emphasis on echocardiographic diagnosis and treatment.

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

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

    2015-02-01

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

  14. Update on Mastocytosis (Part 1): Pathophysiology, Clinical Features, and Diagnosis.

    Azaña, J M; Torrelo, A; Matito, A

    2016-01-01

    Mastocytosis is a term used to describe a heterogeneous group of disorders characterized by clonal proliferation of mast cells in various organs. The organ most often affected is the skin. Mastocytosis is a relatively rare disorder that affects both sexes equally. It can occur at any age, although it tends to appear in the first decade of life, or later, between the second and fifth decades. Our understanding of the pathophysiology of mastocytosis has improved greatly in recent years, with the discovery that somatic c-kit mutations and aberrant immunophenotypic features have an important role. The clinical manifestations of mastocytosis are diverse, and skin lesions are the key to diagnosis in most patients. Copyright © 2015 Elsevier España, S.L.U. and AEDV. All rights reserved.

  15. Hippocampal sclerosis in advanced age: clinical and pathological features.

    Nelson, Peter T; Schmitt, Frederick A; Lin, Yushun; Abner, Erin L; Jicha, Gregory A; Patel, Ela; Thomason, Paula C; Neltner, Janna H; Smith, Charles D; Santacruz, Karen S; Sonnen, Joshua A; Poon, Leonard W; Gearing, Marla; Green, Robert C; Woodard, John L; Van Eldik, Linda J; Kryscio, Richard J

    2011-05-01

    Hippocampal sclerosis is a relatively common neuropathological finding (∼10% of individuals over the age of 85 years) characterized by cell loss and gliosis in the hippocampus that is not explained by Alzheimer's disease. Hippocampal sclerosis pathology can be associated with different underlying causes, and we refer to hippocampal sclerosis in the aged brain as hippocampal sclerosis associated with ageing. Much remains unknown about hippocampal sclerosis associated with ageing. We combined three different large autopsy cohorts: University of Kentucky Alzheimer's Disease Centre, the Nun Study and the Georgia Centenarian Study to obtain a pool of 1110 patients, all of whom were evaluated neuropathologically at the University of Kentucky. We focused on the subset of cases with neuropathology-confirmed hippocampal sclerosis (n=106). For individuals aged≥95 years at death (n=179 in our sample), each year of life beyond the age of 95 years correlated with increased prevalence of hippocampal sclerosis pathology and decreased prevalence of 'definite' Alzheimer's disease pathology. Aberrant TAR DNA protein 43 immunohistochemistry was seen in 89.9% of hippocampal sclerosis positive patients compared with 9.7% of hippocampal sclerosis negative patients. TAR DNA protein 43 immunohistochemistry can be used to demonstrate that the disease is usually bilateral even when hippocampal sclerosis pathology is not obvious by haematoxylin and eosin stains. TAR DNA protein 43 immunohistochemistry was negative on brain sections from younger individuals (n=10) after hippocampectomy due to seizures, who had pathologically confirmed hippocampal sclerosis. There was no association between cases with hippocampal sclerosis associated with ageing and apolipoprotein E genotype. Age of death and clinical features of hippocampal sclerosis associated with ageing (with or without aberrant TAR DNA protein 43) were distinct from previously published cases of frontotemporal lobar degeneration TAR

  16. Clinical and MRI features in pediatric multiple sclerosis

    Zhao Cailei; Xie Sheng; Xiao Jiangxi; Wang Shuang

    2011-01-01

    Objective: To investigate the clinical and MRI features of multiple sclerosis in children, including the clinically isolated syndrome (CIS) and relapse. Methods: In total, 16 cases of pediatric multiple sclerosis were included in this study. Of them, 11 patients were female and 5 were male, with the mean onset age of 10.1 years. They were followed up for 4 months to 7 years and found to have 1- 5 relapses. The clinical manifestations of CIS and relapse were analyzed by a pediatric neurologist. An experienced neuroradiologist reviewed the MRI images of CIS and relapse. Information on the location, size, and pattern of the lesions was gathered. The location of lesions included subcortical, central, and periventricular white matter, cortex, deep gray matter, brain stem, and cerebellum. Results: CIS episode presented acute onsets in 13/16 cases, with symptoms of cortices in 10 cases and visual impairment in 6 cases. Relapse occurred in 14/16 cases within one year. The incidence of symptoms of cortices was less frequent and severe in the second episode of MS, whereas the visual impairment had a high incidence. All patients had full recovery after the last episode. MRI of CIS showed confluent subcortical white matter lesions in 13/16 cases, abutting on central white matter lesions. The most frequently involved brain part was the frontal lobe, followed by the parietal lobe. Cortical involvement was observed in 9/16 cases. In 6 cases, periventricular white matter lesions were detected. Bilateral deep gray matter was abnormal in 4 cases. Other abnormalities included brain stem lesions in 5 cases, cerebellum lesions in 3 cases, optic nerve involvement in 3 cases, and pyramidal tract lesions in 2 cases. MRI of relapse revealed more small lesions in the subcortical and periventricular white matter in the patients. In the second episode, only 2 cases presented cortical involvement. Lesions were found in the brain stem in 4 cases and in the cerebellum in 5 cases. Pyramidal tract

  17. Severe hyperthyroidism: aetiology, clinical features and treatment outcome.

    Iglesias, P; Dévora, O; García, J; Tajada, P; García-Arévalo, C; Díez, J J

    2010-04-01

    Severe hyperthyroidism (SH) is a serious medical disorder that can compromise life. There have not been systematic studies in which SH has been evaluated in detail. Here, our aims were: (1) to analyse both clinical and analytical features and outcome in patients with SH and (2) to compare these data with those found in more usual forms of hyperthyroidism. Patients and methods All patients diagnosed of SH (free thyroxine, FT4 > 100 pmol/l, NR: 11-23) seen in our endocrinology clinic in the last 15 years were studied and compared with a sample of patients with mild (mH; FT4, 23-50 pmol/l) and moderate (MH; FT4, 51-100 pmol/l) hyperthyroidism. Aetiology, clinical analytical and imaging data at diagnosis, therapeutic response and outcome were registered. Results A total of 107 patients with overt hyperthyroidism (81 females, mean age +/- SD 46.9 +/- 16.1 years) were evaluated. We studied a historic group with SH (n = 21; 14 females, 40.9 +/- 17.2 years) and, as a comparator group, we analyszed the data of 86 hyperthyroid patients (67 females, 48.4 +/- 15.5.6 years, NS) comparable in age and gender. The comparator group was classified in MH (n = 37, 26 females, 47.2 +/- 16.6 years) and mH (n = 49, 41 females, 49.4 +/- 14.8 years). In comparison with mH group, SH patients were significantly (P hyperthyroidism. FT4 was the only independent predictor of cure [OR 0.98 (CI 95%, 0.97-0.99), P hyperthyroidism is usually de novo and is accompanied by more clinical signs, symptoms, and analytical derangements, as well as higher titres of TRAb at diagnosis than milder forms of hyperthyroidism. The present data are not able to show differences in treatment modality, time to achieve cure, and remission rate among patients with mild, moderate and severe hyperthyroidism.

  18. Clinical and genetic features of ataxia-telangiectasia

    Bundey, S.

    1994-01-01

    There are several variants of ataxia-telangiectasia (A-T): classical A-T with marked radiation sensitivity; classical A-T with intermediate levels of radiation sensitivity; mild A-T with intermediate levels of radiation sensitivity; A-T without telangiectasia; A-T without oculomoto apraxia; and A-T with microcephaly. These disorders are probably caused by different allelic mutations, because affected sibs resemble the index patients, and because there is an association of certain haplo-types of 11q22-23 with specific phenotypes. The Nijmegen Breakage Syndrome, with its lack of ataxia, seems on clinical grounds to be a different disorder. Although A-T is almost always inherited as an autosomal recessive, there are some unusual features; an unexpectedly low parental consanguinity rate, an incidence in sibs that is < 0.25, and occurrence of disease in many different races and in the offspring of mixed race unions. Moreover, looking at haplotypes from 63 UK patients, there is a remarkably low incidence of homozygosity. An autosomal recessive condition that is deficient in parental consanguinity, and in homozygosity for the region around the gene, can be explained by J.H. Edwards' hypothesis that homozygosity for alleles at a neighbouring locus are lethal early in embryogenesis. Other possible mechanisms to explain the unusual genetic features are discussed. (author)

  19. [The specific microbiological and clinical features of acute otitis media].

    Gurov, A V; Levina, Yu V; Guseva, A L; Elchueva, Z G; Efimova, S P; Gordienko, M V

    The objective of the present study was to elucidate the specific features of the clinical course of acute otitis media as well as the peculiarities of the vestibular function and the microbial paysage associated with this pathological condition under the present-day conditions. The study included 135 patients presenting with acute otitis media (AOM) at different stages of the disease. The discharge obtained from the tympanic cavity of all the patients was examined with the use of polymerase chain reaction in real time, audiological and vestibulogical methods. The distinctive features of acute otitis medium associated with Streptococcus pneumoniae infection were found to be the intense pain syndrome with the symptoms of intoxication, well apparent inflammatory changes in the tympanic membrane as revealed by otoscopy, the increased frequency of sensorineural impairment of hearing, and the characteristic type B tympanometric curve. Typical of AOM associated with Haemophilus influenza infection are the mild pain syndrome, weak changes in the tympanic membrane as revealed by otoscopy, conductive hearing loss, and the type C tympanometric curve.

  20. Clinical features of pedophilia and implications for treatment.

    Cohen, Lisa J; Galynker, Igor I

    2002-09-01

    The authors discuss the diagnostic criteria for pedophilia and review the literature on its clinical features, including data on prevalence, gender, age of onset, number of victims, frequency and type of acts, violence, impulsivity, and insight. Findings concerning the characteristics of victims (e.g., sex, age, relationship to the pedophile) and research on pedophilic subtypes-exclusive versus nonexclusive; incestuous versus nonincestuous; heterosexual, homosexual, or bisexual-are reviewed. Studies have shown that pedophiles may share many psychiatric features beyond deviant sexual desire, including high rates of comorbid axis I disorders (affective disorders, substance use disorders, impulse control disorders, other paraphilias) as well as severe axis II psychopathology (especially antisocial and Cluster C personality disorders). The authors present several possible etiological models for pedophilia and conclude that further research is needed concerning the etiological role of a childhood history of sexual abuse as well as the underlying neurobiology of deviant sexual arousal and decreased erotic differentiation. Finally, findings concerning pharmacological and cognitive-behavioral treatments for pedophilia are briefly reviewed. Recidivism, drop-out, and noncompliance are significant problems in the treatment of pedophilia. The authors review predictors of treatment outcome and conclude that pedophilia is extremely difficult to treat and that effective treatment needs to be intensive, long-term, and comprehensive, possibly with lifetime follow-up.

  1. Clinical features and surgical treatment of cauda equina schwannoma

    Jun-jun HUANG

    2011-03-01

    Full Text Available Objective To investigate the clinical features and surgical treatment method of cauda equina schwannoma.Methods Clinical symptoms,imaging characteristics and functional outcomes after surgical treatment of 32 patients with cauda equina schwannoma from June 2007 to March 2009 were retrospectively reviewed.Results Most patients(30 cases suffered lower extremity numbness/pain before operations and 18 of them suffered in both lower extremities.Physical examination showed bilateral nerve damage or unilateral multiple nerve damage in 25 cases.The initial symptom of 12 cases was simple lumbago.Ten cases were misdiagnosed as lumbar disc herniation.Six patients were scanned by computed tomography but none of them was diagnosed correctly.All the patients were definitely diagnosed by magnetic resonance imaging(MRI,the typical appearance of the schwannoma was a round or ovoid mass with isointense or slightly hyperintense on T1-weighted images,while on T2-weighted images with heterogeneous hyperintense in 25 cases,slightly hyperintense in 2,and homogeneous hyperintense in 5.Gadolinium-enhanced MRI was performed in 13 patients,of whom 10 cases showed heterogeneous or annular enhancing.In all patients,the tumor was resected completely,the functional outcomes were satisfactory except one with a giant tumor,in whom the neurological symptom was aggravated,and no recurrence was found during a short-term follow-up.Conclusions The characteristic features of cauda equina schwannoma were lower extremities numbness/pain and bi-or unilateral polyradiculopathy in physical examination.MRI is helpful for early diagnosis and recommended as the first choice.Functional outcomes are satisfactory in patients with tumor completely resected.

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

    João Gustavo Corrêa Reis

    Full Text Available 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.To identify factors associated with clinical and topographical features of LTB.a retrospective cross-sectional study was conducted from the medical records of 36 patients with confirmed LTB diagnosis.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.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.

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

    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

    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. To identify factors associated with clinical and topographical features of LTB. a retrospective cross-sectional study was conducted from the medical records of 36 patients with confirmed LTB diagnosis. 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. 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.

  4. Etiology, clinical features and management of acute recurrent pancreatitis.

    Deng, Yi Yun; Wang, Rui; Wu, Hao; Tang, Cheng Wei; Chen, Xin Zu

    2014-10-01

    To study the etiology and clinical features of acute recurrent pancreatitis (ARP) and to determine its optimal management and outcomes. ARP cases among acute pancreatitis patients who were admitted to the West China Hospital, Sichuan University from January 2008 to December 2012 were retrospectively collected. Their etiology, clinical features, treatments and outcomes were analyzed. Of all pancreatitis patients, 8.9% were classified as ARP. The proportions of mild and severe diseases were 85.7% and 14.3%, respectively. The common etiological factors were biliogenic (31.0%), alcohol (26.2%), hyperlipidemia (21.4%) and pancreaticobiliary malformation (15.4%). At first 46 cases were cryptogenic and among them 36 were subsequently confirmed by endoscopic retrograde cholangiopancreatography (ERCP). Among the hyperlipidemic ARP patients, 72.2% failed to routinely monitor and control serum lipids. ERCP was performed in 88 cases, and 48 also required an endoscopic sphincterotomy or calculus removal. Twenty-two patients underwent cholangiopancreatic duct stent placement, and pancreatic necrosectomy was performed on eight severe cases. The overall outcomes indicate that 8.3% of the cases progressed to chronic pancreatitis and 33.3% of the cases receiving etiological treatment were recurrence-free. There were no deaths in this study. The etiological factors of ARP are similar to those of acute pancreatitis at the first attack. The management of ARP should be fully considered based on etiological investigation. © 2014 Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine and Wiley Publishing Asia Pty Ltd.

  5. HYPERPHAGIA REACTIONS WITHIN EATING DISORDERS. CLINICAL FEATURES AND THERAPY

    O. A. Gladyshev

    2014-01-01

    Full Text Available Aim. To evaluate clinical features of hyperphagia reactions, their significance in attraction abnormities within eating disorders and treatment options for these conditions with escitalopram.Material and methods. Mental state of 39 women (age 19-50 years with psychogenic overeating and obesity (body mass index of 30 to 53 kg/m2 was studied. Patients were admitted to the Institute of Nutrition of the Russian Academy of Medical Sciences. Diagnostic criteria for International Classification of Diseases, 10th edition, as well as Eating Disorder Inventory (EDI, Hospital Anxiety and Depression Scale (HADS and Ferreri Anxiety Rating Diagram (FARD were used for syndrome qualifications. Patient Global Impression of Change was also studied using a 4-point scale of results (excellent, good, fair, and negative.Results. Clinical features of hyperphagic reactions were found. Escitalopram treatment course was completed with excellent and good results in 80% of patients. 50%-reduction in HADS score for anxiety was found in 74% of patients, for depression – in 63%, and for Ferreri scale – in 68% of patients. Escitalopram promoted more intensive body weight loss: 11% vs 8% of baseline weight in active and control groups, respectively. Adverse events occurred only in 7 (36% patients; they were transient and did not require therapy discontinuation.Conclusion: Significant differences of premanifest disorders were often observed in patients history. Escitalopram in these patients showed efficacy in improvement of both mental and somatic symptoms of anxiety. It decreased dependence on food as a factor mitigating affect and stress, thus provided better results in body weight reduction.

  6. HYPERPHAGIA REACTIONS WITHIN EATING DISORDERS. CLINICAL FEATURES AND THERAPY

    O. A. Gladyshev

    2015-09-01

    Full Text Available Aim. To evaluate clinical features of hyperphagia reactions, their significance in attraction abnormities within eating disorders and treatment options for these conditions with escitalopram.Material and methods. Mental state of 39 women (age 19-50 years with psychogenic overeating and obesity (body mass index of 30 to 53 kg/m2 was studied. Patients were admitted to the Institute of Nutrition of the Russian Academy of Medical Sciences. Diagnostic criteria for International Classification of Diseases, 10th edition, as well as Eating Disorder Inventory (EDI, Hospital Anxiety and Depression Scale (HADS and Ferreri Anxiety Rating Diagram (FARD were used for syndrome qualifications. Patient Global Impression of Change was also studied using a 4-point scale of results (excellent, good, fair, and negative.Results. Clinical features of hyperphagic reactions were found. Escitalopram treatment course was completed with excellent and good results in 80% of patients. 50%-reduction in HADS score for anxiety was found in 74% of patients, for depression – in 63%, and for Ferreri scale – in 68% of patients. Escitalopram promoted more intensive body weight loss: 11% vs 8% of baseline weight in active and control groups, respectively. Adverse events occurred only in 7 (36% patients; they were transient and did not require therapy discontinuation.Conclusion: Significant differences of premanifest disorders were often observed in patients history. Escitalopram in these patients showed efficacy in improvement of both mental and somatic symptoms of anxiety. It decreased dependence on food as a factor mitigating affect and stress, thus provided better results in body weight reduction.

  7. Arrhythmogenic right ventricular cardiomyopathy: contribution of different electrocardiographic techniques.

    Moreira, Davide; Delgado, Anne; Marmelo, Bruno; Correia, Emanuel; Gama, Pedro; Pipa, João; Nunes, Luís; Santos, Oliveira

    2014-04-01

    Arrhythmogenic right ventricular cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia, is a condition in which myocardium is replaced by fibrous or fibrofatty tissue, predominantly in the right ventricle. It is clinically characterized by potentially lethal ventricular arrhythmias, and is a leading cause of sudden cardiac death. Its prevalence is not known exactly but is estimated at approximately 1:5000 in the adult population. Diagnosis can be on the basis of structural and functional alterations of the right ventricle, electrocardiographic abnormalities (including depolarization and repolarization alterations and ventricular arrhythmias) and family history. Diagnostic criteria facilitate the recognition and interpretation of non-specific clinical features of this disease. The authors present a case in which the diagnosis of arrhythmogenic right ventricular cardiomyopathy was prompted by the suspicion of right ventricular disease on transthoracic echocardiography. This was confirmed by detection of epsilon waves on analysis of the ECG, which generally go unnoticed but in this case were the key to the diagnosis. Their presence was also shown by non-conventional ECG techniques such as modified Fontaine ECG. The course of the disease culminated in the occurrence of ventricular tachycardia, which prompted placement of an implantable cardioverter-defibrillator. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  8. Clinical and dermoscopic features of nevi in patients with psoriasis

    Ilina Natalia Glebovna

    2017-01-01

    Full Text Available The aim of the present study is to display the clinical and dermoscopic features of melanocytic nevi of more than 5 mm in diameter in psoriasis patients. A total of 32 patients with psoriasis (21 male, 11 female; average age 37.4 formed the first study group. In 22 patients (68.8%, melanocytic nevi of 5 mm in diameter and bigger (total of 68 nevi were clinically found. For a randomized trial, 100 people (21 male, 79 female; average age 27.8 without psoriasis were invited to form the second study group. Only 37 of them had nevi ≥5 mm in diameter (total of 60 nevi. Complete questionnaire, full body photometric skin examination, dermoscopy examination on the dermatoscope HEINE MINI 10X with 70% ethyl alcohol immersion, skin type identification according to the Fitzpatrick classification, and nevi assessment according to ABCD and ABC rules were obtained for all recruited people. Our study showed that patients with psoriasis are more susceptible to melanocytic nevi of >5 mm in diameter (68.8%, while the result for the second group was 37%. As for nevi of dysplastic criteria, we found 32% in psoriasis patients vs. 42% in the monitoring group. Moreover, we should bear in mind the influencing factors of skin phototype II and artificial insolation (e.g., tanning, PUVA (Psoralen and ultraviolet A, and narrowband phototherapy 311 nm obtained by the patients from the first group.

  9. Ultrasonographic and clinical features of fetal cholelithiasis. Three case reports

    Agnifili, Alessio; Gola, Piersante; Marino, Maria; Verzaro, Roberto; Carducci, Giuseppe; Mancini, Ermanno; Rizzo, Franz Maria; Carducci, Augusto; Biasini, Giancarlo

    1997-01-01

    Fetal cholelithiasis was first diagnosed in 1983 and since then there have been only few reports about the presence of gallstones in the fetus. Maternal conditions, fetal or obstetrical predisposing risk factors have been proposed to have a causative role, by the pathogenesis of fetal gallstones remains unknown. Clinical sequelae of fetal gallstones are poorly understood as well as the role of fetal cholelithiasis in predisposing the adult to gallstones. They report on 3 patients whose cholelithiasis was diagnosed by obstetrical ultrasonography. Repeated ultrasound scans were performed in each patient until resolution of the US images. The goal of US was to correctly identify the number, size and US features of the material within the gallbladder. The presence of distal shadowing or comet-tail artifact was assess. Multiple, small echogenic foci without distal shadowing were recognized in the fetal gallbladder in their patients. In the third case echogenic foci disappeared during pregnancy. In all the cases, US showed no biliary tract abnormality, and neither the mothers nor the patients had clinical or laboratory findings consistent with liver or biliary diseases. The authors discuss a diagnostic protocol to detect and follow-up gallstones in the perinatal period by ultrasonography. In their experience, fetal cholelithiasis confirmed to be a self-limiting disease without complications and did not require any form of therapy. However a close follow-up is indicated in these patients until spontaneous resolution is demonstrated by US

  10. Cluster Headache: Epidemiology, Pathophysiology, Clinical Features, and Diagnosis.

    Wei, Diana Yi-Ting; Yuan Ong, Jonathan Jia; Goadsby, Peter James

    2018-04-01

    Cluster headache is a primary headache disorder affecting up to 0.1% of the population. Patients suffer from cluster headache attacks lasting from 15 to 180 min up to 8 times a day. The attacks are characterized by the severe unilateral pain mainly in the first division of the trigeminal nerve, with associated prominent unilateral cranial autonomic symptoms and a sense of agitation and restlessness during the attacks. The male-to-female ratio is approximately 2.5:1. Experimental, clinical, and neuroimaging studies have advanced our understanding of the pathogenesis of cluster headache. The pathophysiology involves activation of the trigeminovascular complex and the trigeminal-autonomic reflex and accounts for the unilateral severe headache, the prominent ipsilateral cranial autonomic symptoms. In addition, the circadian and circannual rhythmicity unique to this condition is postulated to involve the hypothalamus and suprachiasmatic nucleus. Although the clinical features are distinct, it may be misdiagnosed, with patients often presenting to the otolaryngologist or dentist with symptoms. The prognosis of cluster headache remains difficult to predict. Patients with episodic cluster headache can shift to chronic cluster headache and vice versa. Longitudinally, cluster headache tends to remit with age with less frequent bouts and more prolonged periods of remission in between bouts.

  11. Clinical-Diagnostic Features of Duchenne Muscular Dystrophy in Children

    Umida T. Omonova

    2013-12-01

    Full Text Available Duchenne Muscular Dystrophy (DMD is a severe, progressive disease that affects about 1 out of every 5,000 male infants; this is the most destructive of all muscular dystrophies, which worsens rapidly. In this study, we performed a clinical analysis of 37 children with DMD. They ranged in age from 3 to 15 years, mean age being 7.8±0.48 years. The mean age at onset was 4.3±0.36 years and ranged from birth to 8 years. The biochemical examination included the determination of the serum levels of the following enzymes, AST, ALT, CPK-MM, and LDH. A genealogical analysis was conducted among 240 first-degree relatives of children with DMD. Electroneuromyography examination included registration of the biopotentials of the hand and foot muscles, measurement of the muscle response (M-wave and the late-evoked responses. The clinical-diagnostic features of DMD in children were characterized.

  12. Acute hematogenous osteomyelitis in young children - clinical and radiological features

    Penushliev, T.; Brankov, O.; Georgiev, Tz.; Stoilov, S.; Panov, M.; Totev, M.

    2007-01-01

    Acute hematogenous osteomyelitis is a bacterial infectious disease which mainly affects the paediatrics age group. The incidence seems to decline through the last decade. The authors analyzed the clinical, bacteriological and radiological features of acute hematogenous osteomyelitis in 49 young children. Their age ranged from 12 days to 2.9 years (19 new-born and 30 babies). The most affected locus was the femur (46.9 %), followed by the humerus (40.9 %) and tibia (6.2 %). The adjacent joint was involved in 38.8 %. Up to the third day after onset of symptoms were admitted 32 children (65.3 %). A bacteriological diagnosis has been achieved in only 19 cases (38.8 %) which underwent different surgical procedures. Staphylococcus aureus (9 children; 64.3 %) was the most common causative microbe. Radiological characteristic showed mainly widening of joints, destruction of cartilage, bone destruction and osteoporosis. The median duration of antibiotic therapy was 31 days. Nine children underwent needle aspiration while another 10 required locus incision or open surgery with debridement or sequestrectomy. Definitive clinical restoration was observed in 42 cases (85.7%). (authors)

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

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

    2014-01-01

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

  14. Late-onset hypogonadism: etiology, clinical features, diagnostics, treatment

    E. Yu. Pashkova

    2015-04-01

    Full Text Available In a critical review of the literature current data concerning etiology, clinical features, diagnostics, treatment of late-onset hypogonadism (LOH are given. LOH is a multidisciplinary problem, because a patient with LOH can have osteoporosis, anemia, depression, obesity, diabetes mellitus, erectile dysfunction. Sometimes it is hard to realize that all this complaints are symptoms of LOH. LOH has a negative impact on a patient,s quality of life and it,s impossible to help without androgen replacement therapy. Furthermore doctors often have doubts about testosterone replacement therapy safety because of lack of accurate information. In a convenient for medical practitioners form clinical and laboratory diagnostic criteria of LOH are presented together with formulas for conversion from one measurement unit of main sex hormones into another. Based on latest ISSAM guidelines (International Society for the Study of the Aging Male modern treatment options of LOH are summarized, full information about available testosterone preparations (oral, transdermal, injectable with comparative analysis of advantages and disadvantages of each is given. A full description of indications and contraindications for androgen replacement treatment is presented, also treatment regimen and medical supervision algorithm during treatment are described. 

  15. Late-onset hypogonadism: etiology, clinical features, diagnostics, treatment

    E. Yu. Pashkova

    2015-01-01

    Full Text Available In a critical review of the literature current data concerning etiology, clinical features, diagnostics, treatment of late-onset hypogonadism (LOH are given. LOH is a multidisciplinary problem, because a patient with LOH can have osteoporosis, anemia, depression, obesity, diabetes mellitus, erectile dysfunction. Sometimes it is hard to realize that all this complaints are symptoms of LOH. LOH has a negative impact on a patient,s quality of life and it,s impossible to help without androgen replacement therapy. Furthermore doctors often have doubts about testosterone replacement therapy safety because of lack of accurate information. In a convenient for medical practitioners form clinical and laboratory diagnostic criteria of LOH are presented together with formulas for conversion from one measurement unit of main sex hormones into another. Based on latest ISSAM guidelines (International Society for the Study of the Aging Male modern treatment options of LOH are summarized, full information about available testosterone preparations (oral, transdermal, injectable with comparative analysis of advantages and disadvantages of each is given. A full description of indications and contraindications for androgen replacement treatment is presented, also treatment regimen and medical supervision algorithm during treatment are described. 

  16. Clinical features of primary cicatricial alopecia in Chinese patients

    Shiling Qi

    2014-01-01

    Full Text Available Background: There have been few reports on primary cicatricial alopecias (PCR especially from Asia (PCA. Aims: To study the clinical, pathological and dermoscopic characteristics of PCA among Chinese patients. Methods: A retrospective analysis of the clinical data of 59 patients with PCA was conducted and the dermoscopic, pathological, treatment and prognosis characteristics analyzed. Fisher′s Chi-square exact test, Kruskal-Wallis and Spearman rank correlation test were performed. Results: The ratio of neutrophilic to lymphocytic cicatricial alopecias was about 1.3:1 in this group. The most frequent disorder was folliculitis decalvans. Follicular openings were absent on dermoscopy in all cases except alopecia mucinosa. Patulous follicular openings were characterisitc of alopecia mucinosa. After treatment, an increase in short vellus hairs was the earliest feature, while telangiectasia, epidermal scale, follicular hyperkeratosis, pustules and hair diameter diversity gradually decreased or even disappeared. Improvement in the areas of hair loss after treatment was seen more often in discoid lupus erythematosus, folliculitis decalvans and dissecting cellulitis than in patients with classic pseudopelade of Brocq. Nine patients (13.6% relapsed after cessation of therapy. Female patients needed longer treatment times. Long duration, large areas of hair loss and shorter treatment courses were the major factors in relapses. Conclusions: Dermatoscopy provides a rapid, practical and useful aid for the diagnosis of PCA and also to assess disease activity. Patulous follicular openings are a specific dermoscopic sign of alopecia mucinosa. Lichen planopilaris is less common in China than in the West.

  17. Clinical Features of Herpes Zoster Infections in Childhood

    Emine Çölgeçen

    2012-03-01

    Full Text Available Background and Design: Herpes zoster (HZ is a rare disease in childhood and encountered especially in immunosuppressed patients. The aim of this study was to determine the clinical features of HZ in children. Materials and methods: Records of 24 children, who had a diagnosis of HZ and were referred to the dermatology and pediatric outpatient clinic during February 2009-February 2011, were evaluated retrospectively. Results: Twenty-four patients, - 14 female (58.3%, 10 male (41.7% -, aged between 4 and 16 years were assessed. The mean age of the patients was 10.6±3.7 years. The most frequent complaint was pruritus (54.2%. Sixteen patients had thoracic involvement, whilst the rest had lumbar (n: 4, trigeminal (n: 3 and sacral (n: 1 involvements, respectively. Eleven children were distressed and 2 children had physical trauma. Ten patients were treated with acyclovir orally, 3 were given valacyclovir orally and the rest had only local treatment. No complications were reported. Conclusion: HZ may be seen in healthy children with no immunosuppresion and the infection in these patients has a favorable course.

  18. Intracranial dermoid cysts: variations of radiological and clinical features

    Orakcioglu, B.; Halatsch, M.-E.; Unterberg, A.; Fortunati, M.; Yonekawa, Y.

    2008-01-01

    Intracranial dermoid cysts are uncommon, and their clinical features as well as surgical management differ from patient to patient. Dermoids are generally benign lesions, but may cause spontaneous complications such as meningitis and/or hydrocephalus due to rupture and epileptic seizures depending on their location. Little has been reported about characteristic imaging findings with resulting therapeutic considerations, and only a few reports exist about associated hydrocephalus. Imaging modalities have changed and can facilitate differential diagnosis and follow-up if applied correctly. In this paper, we attempt to contribute our clinical experience with the management of dermoid cysts. The charts of five men and two women with intracranial dermoid cysts were retrospectively reviewed. The patients were treated between September 1993 and September 2006. Selected patients are presented in detail. Tumour location, size and radiographic characteristics varied in each patient. Clinical presentations comprised focal neurological deficits as well as epileptic seizures, persistent headache, mental changes and psycho-organic syndromes. One patient underwent delayed ventriculo-peritoneal shunting after ruptured fatty particles caused obstructive hydrocephalus. Despite dermoid rupture into the subarachnoid space, three patients never developed hydrocephalus. Diffuse vascular supra-tentorial lesions were seen in one patient as a result of aseptic meningitis. Diffusion-weighted imaging (DWI) hyperintensity in dermoids is related to decrease of water proton diffusion and should be used for both the diagnosis and follow-up of this lesion. Although dermoid cysts are known to be benign entities per se, their rupture can cause a wide range of symptoms including aseptic meningitis and/or hydrocephalus. This may be due to intraventricular obstruction and/or paraventricular compression. While rupture does not necessarily bring about hydrocephalus, radical removal of the tumor and

  19. The clinical features of osteogenesis imperfecta in Vietnam.

    Binh, Ho Duy; Maasalu, Katre; Dung, Vu Chi; Ngoc, Can T Bich; Hung, Ton That; Nam, Tran V; Nhan, Le N Thanh; Prans, Ele; Reimann, Ene; Zhytnik, Lidiia; Kõks, Sulev; Märtson, Aare

    2017-01-01

    Osteogenesis imperfecta (OI) has not been studied in a Vietnamese population before. The aim of this study was to systematically collect epidemiological information, investigate clinical features and create a clinical database of OI patients in Vietnam for future research and treatment strategy development. Participants underwent clinical and physical examinations; also medical records were reviewed. Genealogical information was collected and family members' phenotypical manifestations recorded. Cases were classified according to the Sillence classification. In total, 146 OI patients from 120 families were studied: 46 with OI Type I, 46 with Type III and 54 with Type IV. Almost patients had skeletal deformations. One hundred and forty-two had a history of fractures, 117 blue sclera, 89 dentinogenesis imperfecta and 26 hearing loss. The total number of fractures was 1,932. Thirty-four patients had intra-uterine fractures and nine had perinatal fractures. Surgery was performed 163 times in 58 patients; 100 osteosyntheses and 63 osteotomies. Bisphosphonate treatment was used in 37 patients. The number of affected individuals and predominance of severe forms of OI indicate that the disease is under diagnosed in Vietnam, especially in cases without a family history or with mild form of OI. Deformities appeared in all patients with different severity and localisation, affecting mostly the lower limbs. OI medical and surgical treatment rates are low and in most cases surgery was performed due to fractures. Compared to previous studies, our results indicate a lower OI prevalence and greater severity of symptoms in the Vietnamese population when compared with other areas. Further investigation, improved diagnosis and treatment are needed to increase the patients' quality of life.

  20. [Clinical, pathological and imaging features of primary pelvic Ewing's sarcoma].

    Liu, J; Chen, Y; Ling, X L; Gong, Y; Ding, J P; Zhang, Z K; Wang, Y J

    2016-07-19

    To explore the clinical, pathological and imaging features of Ewing's sarcoma in pelvis and to improve knowledge and diagnosis of the disease. A retrospective analysis of the clinical, pathological and imaging data of pathologically confirmed 13 cases of Ewing's sarcoma in pelvis was carried out between May 2008 and March 2016 in the Affiliated Hospital of Hangzhou Normal University, the Third Hospital of Hebei Medical University and the Second Hospital of Hebei Medical University. The median age 13 cases of pelvic primary Ewing's sarcoma was 17 years old.The X-ray and CT imagings showed osteolytic and mixed bone destruction, CT showed mixed type in 10 cases, 8 cases of bone tumors as a flocculent, 10 cases of bone expansion failure, 10 cases of periosteal reaction, the layered 5 cases, radial in 5 cases.Thirteen cases showed soft tissue mass, soft tissue mass was equal or slightly lower density.Four cases showed heterogeneous contrast enhancement.The lesions showed low signal in T1WI and mixed high signal in T2WI of magnetic resonance imaging(MRI). The boundary of the lesions were obscure, and 5 cases had patchy necrosis area, and 9 cases had incomplete false capsule, surrounding soft tissue was violated.Four cases showed heterogeneous contrast enhancement after MRI enhancement scan. The age of onset of Ewing's sarcoma of the pelvis is more concentrated in about 15 years.The imaging feaures are mixed bone destruction and more bone is swelling and permeability damage, soft tissue mass is larger, bone tumor is cloudy or acicular, periosteal reaction in a layered and radial, most cases show that the false envelope is not complete.Combined with clinical and imaging examination, the diagnosis of the disease can be made.

  1. Clinical features and patient management of Lujo hemorrhagic fever.

    Nivesh H Sewlall

    Full Text Available 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.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.Lujo virus causes a clinical syndrome remarkably similar to Lassa fever. Considering the high case-fatality and significant logistical impediments to controlled treatment efficacy trials for viral hemorrhagic fever, it is both logical and ethical to explore the use of the various compounds used in the treatment of the surviving case reported here in future outbreaks

  2. [The clinical features and surgical treatment strategies of cervical kyphosis].

    Fang, Jia-hu; Jia, Lian-shun; Zhou, Xu-hui; Song, Li-jun; Cai, Wei-hua; Li, Xiang

    2010-10-15

    To analyze the clinical characteristics and the surgical treatment strategy of cervical kyphosis. From March 2006 to October 2009, 31 cases of cervical kyphosis were treated. According to the clinical features and imaging findings, different treatment methods were used. There were 9 patients in operation group, including 4 male and 5 female patients, aged from 17 to 72 years (average age of 35 years). Among them, 5 cases were idiopathic kyphosis and 4 cases were caused by laminectomy or other reasons. There were 22 patients in conservative treatment group, including 11 male and 11 female patients, aged from 14 to 40 years (average age of 29 years), who were all idiopathic cervical kyphosis. Before and 1 week after operation, clinical assessment were taken for the patients in operation group using Spinal Cord Injuries Classification Standard of American Spinal Injury Association (AISA). During the periodic review, the anteroposterior, normal sagittal films of cervical spine were taken. At 1 week and every 6 months after operation, MRI films were also taken. These films were studied to evaluate the effects of the operations. In the conservative group, assessment of treatment results by studying anteroposterior and normal lateral views of cervical spine were were taken every month. The clinical characteristics and the surgical treatment strategies of these patients were analyzed. In operation group, 9 cases were followed up for 6 to 18 months, all patients did not failed in internal fixation and fusion. AISA neurological score and neurological function significantly improved. Three days after operation the average Cobb angle was -1.29 ° (preoperative 54.24 °). In conservative group, the average Cobb angle was -5.41 ° (before treatment 11.20 °) 4 months after the treatment. The symptoms of neck shoulder and back pain disappeared, and all patients were followed up for 3 to 24 months, with no recurrence of symptoms. In the early period of cervical kyphosis, adopt

  3. Cardiomyopathy induced by anthracycline

    Quiroz, Isabel; Espinoza, Gerson; Poveda, Maria; Flores, Walter

    2002-01-01

    Anthracycline cardiomyopathy is less frequently encountered nowadays, due to the well recognized dose limitations and cardiac monitoring protocols used by chemotherapy centers. However, it is a condition that will persist due to the sensitivity of some patients to these drugs and the necessity for large doses to be used for certain individuals. We have demonstrated the benefit of angiotensin converting enzyme inhibitor therapy and would consider introducing these compounds at the earliest opportunity. The use of probucol and vitamins as antioxidants capable of preventing the onset of cardiomyopathy in humans appears to require further investigation but may significantly reduce the incidence of this condition in the future. (The author)

  4. Incidental finding of single coronary artery in a patient with alcoholic cardiomyopathy presenting as acute heart failure.

    McNair, Patrick; Jones, Erica; Truong, Quynh; Singh, Harsimran

    Single coronary artery is a rare clinical finding. Diagnosis is typically made incidentally after the patient presents with symptoms and undergoes coronary angiography, coronary computed tomography angiography (CTA), or post-mortem during autopsy. Several high-risk features of anomalous coronary arteries have been described in the literature. Our paper describes a case of dilated alcoholic cardiomyopathy presenting as heart failure with diagnostic workup incidentally revealing single coronary artery. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Apical ballooning with mid-ventricular obstruction: the many faces of Takotsubo cardiomyopathy

    Spadotto, Veronica; Elmaghawry, Mohamed; Zorzi, Alessandro; Migliore, Federico; Marra, Martina Perazzolo

    2013-01-01

    Takotsubo cardiomyopathy (TTC) is a transient left ventricular dysfunction due to akinesia of the left-ventricular (LV) mid-apical segments (apical ballooning), which can cause severe reduction in LV systolic function. The typical clinical picture of TTC include chest pain, electrocardiographic changes consisting of mild ST-segment elevation followed by diffuse deep T-wave inversion, QTc interval prolongation and mild troponin release in the absence of significant coronary stenoses. The syndrome often affects post-menopausal women and is triggered by sympathetic overstimulation, like intense physical or emotional stress, so that it is called the “broken heart syndrome”. Although left-ventricular systolic dysfunction usually fully recovers within few days, heart failure can still complicate the early phase. We report a case of stress-induced cardiomyopathy that had full recovery after 4 weeks of follow up. The main electrocardiographic, angiographic and imaging features are discussed. PMID:24689016

  6. BAG3 myofibrillar myopathy presenting with cardiomyopathy.

    Konersman, Chamindra G; Bordini, Brett J; Scharer, Gunter; Lawlor, Michael W; Zangwill, Steven; Southern, James F; Amos, Louella; Geddes, Gabrielle C; Kliegman, Robert; Collins, Michael P

    2015-05-01

    Myofibrillar myopathies (MFMs) are a heterogeneous group of neuromuscular disorders distinguished by the pathological hallmark of myofibrillar dissolution. Most patients present in adulthood, but mutations in several genes including BCL2-associated athanogene 3 (BAG3) cause predominantly childhood-onset disease. BAG3-related MFM is particularly severe, featuring weakness, cardiomyopathy, neuropathy, and early lethality. While prior cases reported either neuromuscular weakness or concurrent weakness and cardiomyopathy at onset, we describe the first case in which cardiomyopathy and cardiac transplantation (age eight) preceded neuromuscular weakness by several years (age 12). The phenotype comprised distal weakness and severe sensorimotor neuropathy. Nerve biopsy was primarily axonal with secondary demyelinating/remyelinating changes without "giant axons." Muscle biopsy showed extensive neuropathic changes that made myopathic changes difficult to interpret. Similar to previous cases, a p.Pro209Leu mutation in exon 3 of BAG3 was found. This case underlines the importance of evaluating for MFMs in patients with combined neuromuscular weakness and cardiomyopathy. Copyright © 2015 Elsevier B.V. All rights reserved.

  7. Clinical features and imaging of central poststroke pain

    Ramesh Bhattacharyya

    2016-01-01

    Full Text Available Introduction: Central post stroke pain is a variety of neuropathic pain that occurs after stroke as a result of dysfunction of either spino-thalamic tract or thalamo-cortical sensory pathway. Hyperirritability in surviving cells along the affected pain pathways found with changes in inhibitory pathways, spinal and cortical reorganization and central sensitization. Aim: Clinical features like character of pain and other sensory features with neuroimaging findings of central post stroke pain for a part of Indian population were analyzed in this study. Materials and Method including analysis: 120 numbers of patients, who developed new onset pain symptoms after stroke, attending outpatient and inpatient department of a neurology department during a whole year were examined with history including extensive sensory symptoms analysis; sensory examinations including assessment of pain score and other neurological examinations were done and rechecked by neurologists. All were investigated by neuroimaging with either MRI or CT scan or both. Neuro imaging was interpreted by experienced neuroradiologist and corroborated by neurologists and pain physician. Results: 45% of the lesions were in Thalamus when 75% of the lesions were detected as infarction. 57.5% symptoms started within 3 months. Ataxia found with 60%, increased threshold to warm and cold were seen in 40% of patients, burning sensation was seen in 40% followed by numbness with 20%, dysesthesia found with 60%, reduced sensation to temperature changes found with 40% patients. Conclusion: CPSP patients may presents with various sensory symptoms beside pain. Distribution of sensory symptoms may be with any part of the body as well as over one half of the body. Most common trigger factor was mechanical; while thalamic lesions found in 45%, extra thalamic lesions werefound with 55% of patients.

  8. CLINICAL FEATURES OF ACUTE FEBRILE THROMBOCYTOPAENIA AMONG PATIENTS ATTENDING PRIMARY CARE CLINICS

    Khairani Omar

    2006-01-01

    Full Text Available Introduction: Identifying clinical features that differentiate acute febrile thrombocytopaenia from acute febrile illness without thrombocytopaenia can help primary care physician to decide whether to order a full blood count (FBC. This is important because thrombocytopaenia in viral fever may signify more serious underlying aetiology like dengue infection.Objective: The aim of this study was to compare the clinical features of acute febrile patients with thrombocytopaenia and acute febrile patients without thrombocytopaenia.Methodology: This was a clinic-based cross-sectional study from May to November 2003. Consecutive patients presenting with undifferentiated fever of less than two weeks were selected from the Primary Care Centre of Hospital Universiti Kebangsaan Malaysia and Batu 9 Cheras Health Clinic. Clinical features of these patients were recorded and FBC examination was done for all patients. Thrombocytopaenia was defined as platelet count <150X109/L. The odds ratio of thrombocytopaenia for each presenting symptoms was calculated.Result: Seventy-three patients participated in this study. Among them, 45.2% had thrombocytopaenia. Myalgia and headache were common among all patients. However, nausea and vomiting occurred significantly more often among patients with thrombocytopaenia than in patients with normal platelet count (OR 2.2, 95% CI 1.1-4.5.Conclusion: Acute non-specific febrile patients presenting with symptoms of nausea and vomiting may have higher risk of thrombocytopaenia and should be seriously considered for FBC.

  9. Analysis of clinical features and visual outcomes of pars planitis.

    Berker, Nilufer; Sen, Emine; Elgin, Ufuk; Atilgan, Cemile Ucgul; Dursun, Erdem; Yilmazbas, Pelin

    2018-04-01

    To evaluate the demographic characteristics, clinical features, treatment and outcomes of patients with pars planitis in a tertiary referral center in Turkey. Medical records of patients with pars planitis were retrospectively reviewed. The data including demographic and ocular features and treatment outcomes were recorded. The distribution of clinical findings and complications were evaluated according to age and gender groups. The changes in final BCVA compared to the initial BCVA were noted. Statistical analysis was performed using SPSS software (Version 18.0, SPSS Inc., Chicago, USA). Twenty-seven patients (54 eyes) were included in this study. 16 patients were male (59.3%), and 11 were female (40.7%). Mean age at diagnosis was 12.84 ± 8.26 (range 4-36) years. Mean follow-up period was 61.3 ± 52.15 (range 9-172) months. Mean BCVA was 0.58 ± 0.36 (range 0.03-1.00) (0.40 ± 0.45 logMAR) at presentation, and 0.81 ± 0.28 (range 0.10-1.00) (0.14 ± 0.27 logMAR) at final visit (P = 0.001). Vitreous inflammation (100%), vitreous haze (92.6%), snowballs (74.1%), snowbanks (66.7%), anterior chamber cells (66.7%) and peripheral retinal vascular sheathing (48.1%) were the most common presentations. Ocular complications included vitreous condensation (51.9%), cystoid macular edema (22.2%), cataract (18.5%), inferior peripheral retinal detachment (11.1%), glaucoma (5.6%) and vitreous hemorrhage (3.7%). Treatments included topical, periocular, intravitreal and systemic corticosteroids, immunosuppressives, peripheral laser photocoagulation and pars plana vitrectomy when needed. Pars planitis is an idiopathic chronic intermediate uveitis mostly affecting children and adolescents. In spite of its chronic nature with high potential of causing ocular complications, adequate treatment and close follow-up lead to favorable visual outcomes.

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

    Hashimoto, Mamoru; Sakamoto, Shinichi; Ikeda, Manabu

    2015-06-01

    Delusional jealousy is a psychotic syndrome characterized by a belief in the infidelity of one's spouse that reaches delusional intensity. Although delusional jealousy has been described in relation to organic psychosis, little is known concerning the actual role of delusional jealousy in dementia. The aim of the present study was to investigate the clinical features of delusional jealousy and possible mechanisms whereby delusional jealousy arises in patients with dementia. We studied 208 consecutive outpatients with dementia (diagnosis based on DSM-III-R criteria; mean [SD] age of 77.0 [8.0] years; study period: September 2011-August 2012). Delusional jealousy was defined as a false belief derived from a pathological jealousy that makes the patient believe that his or her spouse is unfaithful. The prevalence of delusional jealousy was compared between Alzheimer's disease, dementia with Lewy bodies, and vascular dementia. Patients with and without delusional jealousy were compared in terms of general characteristics. In addition, each patient with delusional jealousy and their primary caregivers were interviewed about the clinical features of the syndrome. Of the 208 patients with dementia, 18 (8.7%) showed delusional jealousy. The prevalence of delusional jealousy in patients who had dementia with Lewy bodies (26.3%) was significantly higher than that in patients with Alzheimer's disease (5.5%) (P jealousy in regard to gender (P = 1.00), age (P = .81), educational attainment (P = .29), presence of other persons living with the couple (P = .22), and Mini-Mental State Examination score (P = .47). On the other hand, delusional jealousy was preceded by the onset of serious physical diseases in nearly half of the patients. Delusional jealousy resolved within 12 months after treatment in 15 of 18 patients (83%). Although delusional jealousy is a considerable problem in dementia, the prognosis of delusional jealousy in demented patients appears to be relatively benign

  11. Hippocampal sclerosis in advanced age: clinical and pathological features

    Schmitt, Frederick A.; Lin, Yushun; Abner, Erin L.; Jicha, Gregory A.; Patel, Ela; Thomason, Paula C.; Neltner, Janna H.; Smith, Charles D.; Santacruz, Karen S.; Sonnen, Joshua A.; Poon, Leonard W.; Gearing, Marla; Green, Robert C.; Woodard, John L.; Van Eldik, Linda J.; Kryscio, Richard J.

    2011-01-01

    Hippocampal sclerosis is a relatively common neuropathological finding (∼10% of individuals over the age of 85 years) characterized by cell loss and gliosis in the hippocampus that is not explained by Alzheimer’s disease. Hippocampal sclerosis pathology can be associated with different underlying causes, and we refer to hippocampal sclerosis in the aged brain as hippocampal sclerosis associated with ageing. Much remains unknown about hippocampal sclerosis associated with ageing. We combined three different large autopsy cohorts: University of Kentucky Alzheimer’s Disease Centre, the Nun Study and the Georgia Centenarian Study to obtain a pool of 1110 patients, all of whom were evaluated neuropathologically at the University of Kentucky. We focused on the subset of cases with neuropathology-confirmed hippocampal sclerosis (n = 106). For individuals aged ≥95 years at death (n = 179 in our sample), each year of life beyond the age of 95 years correlated with increased prevalence of hippocampal sclerosis pathology and decreased prevalence of ‘definite’ Alzheimer’s disease pathology. Aberrant TAR DNA protein 43 immunohistochemistry was seen in 89.9% of hippocampal sclerosis positive patients compared with 9.7% of hippocampal sclerosis negative patients. TAR DNA protein 43 immunohistochemistry can be used to demonstrate that the disease is usually bilateral even when hippocampal sclerosis pathology is not obvious by haematoxylin and eosin stains. TAR DNA protein 43 immunohistochemistry was negative on brain sections from younger individuals (n = 10) after hippocampectomy due to seizures, who had pathologically confirmed hippocampal sclerosis. There was no association between cases with hippocampal sclerosis associated with ageing and apolipoprotein E genotype. Age of death and clinical features of hippocampal sclerosis associated with ageing (with or without aberrant TAR DNA protein 43) were distinct from previously published cases of frontotemporal lobar

  12. Headache Characteristics and Clinical Features of Elderly Migraine Patients.

    de Rijk, Pablo; Resseguier, Noémie; Donnet, Anne

    2018-04-01

    To investigate the headache characteristics and clinical features of elderly migraine patients at a tertiary headache center. We retrospectively reviewed 239 records of migraine patients, over the age of 64 at the first visit, who had migraine as defined by the International Classification of Headache Disorders 3rd edition (beta version) from 2006 to 2015 based on the Marseille registry at Timone Hospital. 13.8% (33/239) patients had migraine with aura only, 13.0% (31/239) had both diagnoses. Of the patients who presented with migraine with aura, 13.4% (32/239) presented with aura without headache. Unilateral pain location was reported by 58.6% (140/239) of patients and the throbbing type of pain was present in 50.2% (120/239) of our study group. Photo- and phonophobia were observed in 77.4% (185/239) and 79.5% (190/239) of patients. Seventy-nine out of 239 (30.1%) patients were found to have probable medication overuse. Within this group, 31.65% (25/79) overused triptan and 70.9% (56/79) overused combination analgesics. We found higher frequencies of migraine for patients whose age at onset of migraine was younger than 18 years, and low frequency migraine was reported more frequently in the later onset group (P = .0357). We assess the headache characteristics of elderly migraine patients who were seen at our tertiary headache center and report the high frequency of probable medication overuse headache in this study group. Finally, we suggest that age of onset is an important factor in the clinical profile of these patients. © 2017 American Headache Society.

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

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

    2016-12-01

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

  14. Clinical and Treatment Features of Orbital Neurogenic Tumors

    Pınar Bingöl Kızıltunç

    2013-10-01

    Full Text Available Purpose: To evaluate the clinical and treatment features of orbital neurogenic tumors. Material and Method: The records of 35 patients with orbital neurogenic tumors who were diagnosed and treated at Ankara University Faculty of Medicine, Department of Ophthalmology, between 1998 and 2011 were evaluated retrospectively. Results: Orbitotomy via a cutaneous approach was performed in 21 (60% cases and orbitotomy via a transconjunctival approach was performed in 7 (20% cases. Three (8% cases had been operated at different centers. Four (12% cases were diagnosed clinically. Total excisional biopsy was performed in 11 (31.4% cases, subtotal excisional biopsy was performed in 7 (20%, and incisional biopsy was performed in 10 (28.6% cases. 14 (40% 35 cases were diagnosed as meningioma, 12 (34% as peripheral nerve sheath tumor, and 9 (26% cases were diagnosed as optic nerve glioma. Six (43% meningioma cases were optic nerve sheath meningioma, 5 (36% were sphenoid wing meningioma, 2 (14% were ectopic meningioma, and 1 (7% was perisellar meningioma. Six (50% of peripheral nerve sheath tumors were schwannoma, 2 (16% were solitary neurofibroma, 4 (34% were plexiform neurofibroma. External beam radiotherapy was performed in 15 (42.8% cases, cyberknife radiosurgery in 1 (2.8% , chemotherapy in 1 (2.8%, and enucleation ( because of neovascular glaucoma and vitreous hemorrhage was performed in 1 (2.8% case. Discussion: The most common orbital neurogenic tumors are meningioma, peripheral nerve sheath tumor, and optic nerve glioma. For meningioma and glioma, external beam radiotherapy is required; for schwannoma and solitary neurofibroma, total excisional biopsy is the preferred treatment. The success of visual and anatomic results are high after treatment. (Turk J Ophthalmol 2013; 43: 335-9

  15. Glutaric aciduria type 1: neuroimaging features with clinical correlation

    Mohammad, Shaimaa Abdelsattar; Ahmed, Khaled A. [Ain-Shams University, Department of Radiodiagnosis, Faculty of Medicine, Cairo (Egypt); Abdelkhalek, Heba Salah; Zaki, Osama K. [Ain-Shams University, Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Cairo (Egypt)

    2015-10-15

    Glutaric aciduria type 1 is a rare neurometabolic disease with high morbidity. To describe the MR imaging abnormalities in glutaric aciduria type 1 and to identify any association between the clinical and imaging features. MRI scans of 29 children (mean age: 16.9 months) with confirmed diagnosis of glutaric aciduria type 1 were retrospectively reviewed. Gray matter and white matter scores were calculated based on a previously published pattern-recognition approach of assessing leukoencephalopathies. Hippocampal formation and opercular topography were assessed in relation to the known embryological basis. MRI scores were correlated with morbidity score. The most consistent MRI abnormality was widened operculum with dilatation of the subarachnoid spaces surrounding underdeveloped frontotemporal lobes. Incomplete hippocampal inversion was also seen. The globus pallidus was the most frequently involved gray matter structure (86%). In addition to the central tegmental tract, white matter abnormalities preferentially involved the central and periventricular regions. The morbidity score correlated with the gray matter abnormality score (P = 0.004). Patients with dystonia had higher gray matter and morbidity scores. Morbidity is significantly correlated with abnormality of gray matter, rather than white matter, whether secondary to acute encephalopathic crisis or insidious onset disease. (orig.)

  16. Cytokine profiles in localized scleroderma and relationship to clinical features.

    Kurzinski, Katherine; Torok, Kathryn S

    2011-08-01

    Localized scleroderma (LS) is a disfiguring autoimmune disease of the skin and underlying tissue that mainly affects the pediatric population. Inflammation of the tissue leads to fibrosis and atrophy, causing physical and psychological disability that can continue throughout childhood into adulthood. Available therapies for LS have had variable effects and are associated with morbidity themselves. A better understanding of the pathophysiology of LS, especially during the active inflammatory phase, would lead to more directed and efficacious therapies. As in systemic sclerosis (SSc), the other form of scleroderma, T-helper (Th) cells and their associated cytokines have been suggested to contribute significantly to the pathophysiology of LS supported by the presence of cytokines from these lineages in the sera and tissue of LS patients. It is postulated that the imbalance between Th1/Th2/Th17 cell subsets drives inflammation in the early stages of disease (Th1 and Th17 predominant) and fibrosis in the later stages of scleroderma (Th2 predominant). We review the available experimental data regarding cytokines in LS and compare them to available clinical disease severity and activity features. This provides the platform to launch further investigations into the role of select cytokines in the pathogenesis of LS and to provide directed therapeutic options in the future. Published by Elsevier Ltd.

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

    Sheila Thampi

    2014-01-01

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

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

    Lian-Jun Lin

    2015-01-01

    Full Text Available Background: Common variable immunodeficiency (CVID is one of the most common symptomatic primary immunodeficiency syndromes. The purpose of this article was to broaden our knowledge about CVID for better diagnosis and treatment. Methods: Clinical and immunological features of 40 Chinese patients with CVID were analyzed retrospectively. Results: The median age at onset was 11-year-old (range 4-51 years. The median age at diagnosis was 14.5-year-old (range 5-66 years. The average time of delay in diagnosis was 5.3 years (range 1-41 years. The most common main complaint was fever due to infections (35 cases, 87.5%. Pneumonia (28 cases, 70% was the most common type of infections. Bronchiectasis was present in 6 patients (15%. Autoimmune disease was detected in 6 cases of CVID, and malignancy in 2 cases. The median total serum levels of IgG, IgA, and IgM at diagnosis were 1.07 g/L, 0.07 g/L, and 0.28 g/L, respectively. The percentages of CD3− /CD19 + B-cells were 1%-3.14%. Conclusions: Infection is the most frequent presentation of CVID. Patients with unexplainable infections should receive further examination including serum immunoglobulin (Ig and lymphocyte subset analysis. Regular and sufficient substitution with Ig is recommended.

  19. Cardiomyopathy Following Latrodectus Envenomation

    Levine, Michael

    2010-12-01

    Full Text Available Latrodectus envenomations are common throughout the United States and the world. While many envenomations can result in catecholamine release with resultant hypertension and tachycardia, myocarditis is very rare. We describe a case of a 22- year-old male who sustained a Latrodectus envenomation complicated by cardiomyopathy. [West J Emerg Med. 2010; 11(5:521-523.

  20. Hypertrophic Cardiomyopathy Association

    ... be donated to Hypertrophic Cardiomyopathy Association. iGive.com - Online Shopping Joing iGive.com to earn money for the ... it works, check out the iGive website . AmazonSmile - Online Shopping Amazon donates 0.5% of the purchase price ...

  1. Hormones and postpartum cardiomyopathy.

    Clapp, C.; Thebault, S.C.; Martinez de la Escalera, G.M.

    2007-01-01

    Prolactin, a hormone fundamental for lactation, was recently shown to mediate postpartum cardiomyopathy, a life-threatening disease in late-term and lactating mothers. The detrimental effect of prolactin results from myocardial upregulation of cathepsin-D, which in turn cleaves prolactin to a 16 kDa

  2. Cardiomyopathies in Noonan syndrome and the other RASopathies

    Gelb, Bruce D.; Roberts, Amy E.; Tartaglia, Marco

    2015-01-01

    Noonan syndrome and related disorders (Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with loose anagen hair, and other related traits) are autosomal dominant traits. Mutations causing these disorders alter proteins relevant for signaling through RAS. Thus, these traits are now collectively called the RASopathies. While the RASopathies have pleiomorphic features, this review will focus on the hypertrophic cardiomyopathy observed in varying percentages of all of these traits. In addition, inherited abnormalities in one pathway gene, RAF1, cause pediatric-onset dilated cardiomyopathy. The pathogeneses for the RASopathy-associated cardiomyopathies are being elucidated, principally using animal models, leading to genotype-specific insights into how signal transduction is perturbed. Based on those findings, small molecule therapies seem possible for RASopathy-associated cardiomyopathies. PMID:26380542

  3. Clinical, epidemiologic, histopathologic and molecular features of an unexplained dermopathy.

    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

    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. 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. 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. This unexplained dermopathy was rare among this population of Northern California residents, but associated with significantly reduced health-related quality of life. No common underlying medical

  4. Clinical, epidemiologic, histopathologic and molecular features of an unexplained dermopathy.

    Michele L Pearson

    Full Text Available 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

  5. Perinatal stroke in Saudi children: clinical features and risk factors

    Salih, Mustafa A.; Al-Jarallah, Ahmed A.; Kentab, Anal Y.; Al-Nasser, Mohammad N.; Abdel-Gader, Abdel-Galil M.; Alorainy, Ibrahim A.; Hassan, Hamdy H.

    2006-01-01

    To describe the clinical features and presentations of perinatal stroke in a prospective and retrospective cohort of Saudi children and ascertain the risk factors. Patients with perinatal stroke were identified from within a cohort of 104 Saudi children who were evaluated at the Division of Pediatric Neurology at King Khalid University Hospital, College of Medicine, King Saud University, Riyadh, Saudi Arabia from July 1992 to February 2001 (retrospective study) and February 2001 to March 2003 (prospective study). Neuroimaging for suspected cases of stroke consisted of cranial CT, MRI, or both. During the study period, 23 (22%) of 104 children (aged one months to 12 years) were diagnosed to have had perinatal stroke. The male: female ratio was 1.6:1. Ten (67%) of the 15 children who had unilateral ischemic involvement had their lesion in the left hemisphere. The presentation of the ischemic result was within 24-72 hours of life in 13 (57%) patients, and in 6 children (26%), motor impairment was recognized at or after the age of 4 months. Nine children (39%) had seizures at presentation. Pregnancy, labor, and delivery risk factors were ascertained in 18 (78%) cases. The most common of these included emergency cesarean section in 5 cases, and instrumental delivery in other 5. Screening for prothrombotic risk factors detected abnormalities in 6 (26%) patients on at least one test carried out between 2 months and 9 years of age. Four children (17%) had low protein C, which was associated low protein S and raised anticardiolipin antibodies (ACA) in one patient, and low antithrombin III in another. Low proteins S was detected in a 42-month-old boy. The abnormality in the sixth child was confined to raised ACA. The present study highlights the non-specific features by which stroke presents during the neonatal period. The data are in keeping with the potential role for inherited and acquired thrombophilia as being the underlying cause. However, the high prevalence of

  6. Histologic characterization of canine dilated cardiomyopathy.

    Tidholm, A; Jönsson, L

    2005-01-01

    Dilated cardiomyopathy (DCM), characterized by chamber dilatation and myocardial systolic and diastolic dysfunction, is one of the most common heart diseases in dogs. The clinical diagnosis is based on findings on echocardiographic and Doppler examinations, with the active exclusion of other acquired or congenital heart diseases. However, the echocardiographic criteria for the diagnosis of DCM are not wholly specific for the disease, and histologic examination may be necessary for final diagnosis. Review of reports on histologic findings in dogs with clinically diagnosed DCM reveals two histologically distinct forms of DCM: 1) cardiomyopathy of Boxers and Doberman Pinschers, corresponding to the "fatty infiltration-degenerative" type and 2) the form seen in many giant, large-, and medium-sized breeds, including some Boxers and Doberman Pinschers, classified as the "attenuated wavy fiber" type of DCM. The histologic changes of the attenuated wavy fiber type of DCM may precede clinical and echocardiographic signs of heart disease, thus indicating an early stage of DCM.

  7. Genetic bases of arrhythmogenic right ventricular cardiomyopathy

    Alessandra Rampazzo

    2010-05-01

    Full Text Available Arrhythmogenic right ventricular cardiomyopathy (ARVC is a heart muscle disease in which the pathological substrate is a fibro-fatty replacement of the right ventricular myocardium. The major clinical features are different types of arrhythmias with a left branch block pattern. ARVC shows autosomal dominant inheritance with incomplete penetrance. Recessive forms were also described, although in association with skin disorders. Ten genetic loci have been discovered so far and mutations were reported in five different genes. ARVD1 was associated with regulatory mutations of transforming growth factor beta-3 (TGFβ3, whereas ARVD2, characterized by effort-induced polymorphic arrhythmias, was associated with mutations in cardiac ryanodine receptor-2 (RYR2. All other mutations identified to date have been detected in genes encoding desmosomal proteins: plakoglobin (JUP which causes Naxos disease (a recessive form of ARVC associated with palmoplantar keratosis and woolly hair; desmoplakin (DSP which causes the autosomal dominant ARVD8 and plakophilin-2 (PKP2 involved in ARVD9. Desmosomes are important cell-to-cell adhesion junctions predominantly found in epidermis and heart; they are believed to couple cytoskeletal elements to plasma membrane in cell-to-cell or cell-to-substrate adhesions.

  8. Anterior choroidal artery occlusions: Clinical and laboratory features

    Lale Gündoğdu Çelebi

    2014-12-01

    Full Text Available OBJECTIVE: The anterior choroidal artery (ACHA irrigation area, this area is very volatile infarction incidence and clinical characteristics of classical knowledge. In our study, patients with infarct lesion limited irrigation area of Achan was to determine the clinical and laboratory features. METHODS: The patient group, magnetic resonance imaging, patients with lesions limited to the area by selecting Achan was created. In addition to the acute lesion Achan, the other in the sprawling grounds of the arteries of patients, additional lesions Those who define transient ischemic attack attributable to infarct Achan, the applicant passed before the first signs of neurological sequelae due to cerebrovascular disease and / or old lesions deemed capable of neurological deficits were excluded. Acha deciding that the irrigation area of the lesion, which is a deep dive irrigation area and medial thalamus, globus pallidus delimit the lateral thalamus formed the typical image of the lesion which were taken into account. For the superficial branch of the amygdala and hippocampus lentikülo-striate arteries occlusion seen in the posterior horn of the lateral ventricle of the lesion until komşuluğuna taken into account. RESULTS: A statistically significant difference in hypertension common modifiable risk factor for the highest rate (p <0.000. Pure motor or sensory examination in all patients except 1 patient showed signs of stroke. According to the classification of etiologic TOAST small vessel disease, significantly higher rate compared to other etiologies (p <0.000. Etiologic groups compared to the risk factors of hypertension and hyperlipidemia in patients with small vessel disease, atrial firillasyon (AF kardioemboli group was significantly higher (p = 0.035 and p = 0.011, p = 0.005. Introduction of the patients were between NIHSS 1-15 (6 + 3.2. Between mRS 0-4 at baseline (1.83 +1.22. Infarct area, Acha is one of the branches or the entire irrigation

  9. Clinical features of IgG4-related rhinosinusitis.

    Hanaoka, Machiko; Kammisawa, Terumi; Koizumi, Satomi; Kuruma, Sawako; Chiba, Kazuro; Kikuyama, Masataka; Shirakura, Satoshi; Sugimoto, Taro; Hishima, Tsunekazu

    2017-09-01

    IgG4-related disease is a systemic disease that affects various organs of the body. Aim of this study is to elucidate the clinical characteristics of IgG4-related rhinosinusitis. Clinical features, laboratory findings, radiological and endoscopic findings, associated disease, treatment and prognosis were retrospectively examined in 10 patients with IgG4-related rhinosinusitis. The age was 59.1±11.3 years old and male-to-female ratio was 1:1. The chief nasal complaints were hyposmia (n=4), nasal obstruction (n=3), and nothing (n=3). Serum IgG4 levels were elevated in all patients and the value was 740.4±472.4mg/dl. Other IgG4-related diseases were associated in all 10 patients, including IgG4-related sialadenitis (n=6), IgG4-related dacryoadenitis (n=5), and autoimmune pancreatitis (n=5). Imaging findings on CT/MRI were obstruction of the way of elimination (n=10), thickening of the sinus mucous membrane (n=10), and fluid in the sinus (n=6). All of the cases had bilateral findings. Nasal endoscopic findings were chiefly deviated nasal septum (n=5), polyps (n=4), edema of the mucous membrane (n=3). Histologically, abundant infiltration of IgG4 positive plasma cell and lymphocyte and an elevated IgG4+/IgG+ cell ration was detected in all 8 patients and 5 patients, respectively. Endoscopic sinus surgery was performed in 8 patients. Eight patients were treated with steroid therapy for other associated IgG4-related diseases. Symptoms improved in all 6 patients after an initial treatment (endoscopic surgery (n=5) and steroids (n=1)), but one patient suffered relapse. IgG4-related rhinosinusitis is a distinct entity of IgG4-related disease, and is associated in patients with multiple IgG4-related diseases. Copyright © 2017 Medical University of Bialystok. Published by Elsevier B.V. All rights reserved.

  10. Clinical features of tuberous sclerosis complex in children with epilepsy

    Dong LI

    2014-12-01

    Full Text Available Objective To explore the clinical features of tuberous sclerosis complex (TSC in children with epilepsy.  Methods The clinical data of 36 TSC children complicated with epilepsy were analyzed retrospectively.  Results All children had epilepsy as first symptom: 23 cases of seizures happened on age less than one year old (63.89%, 8 cases on age 1-3 years old (22.22%, and 5 cases on age more than 3 years old (13.89% . Main attack types were as follows: 12 cases with focal seizures (33.33% , 5 cases with generalized seizures (13.89% , 7 cases with spasms (19.44% and 12 cases (33.33% with mixed seizures. Mental retardation was found in 19 cases (67.86%. Among 30 cases who received brain MRI examination, all had subependymal nodules, 26 cases (86.67% were complicated with cortical and subcortical nodules, 2 cases (6.67% with subependymal giant cell astrocytoma (SEGA, one case (3.33% with pachygyria. EEG examination showed interictal epileptiform discharges in 34 cases (94.44% , including multifocal discharges in 12 patients (35.29% , generalized discharges in 8 patients (23.53% , focal discharges and hypsarrhythmia in 7 patients (20.59% respectively. Seizures were monitored in 8 patients, and the types included spasms in 4 cases, focal seizures in 3 cases, and myoclonic seizures in one case. Seventeen cases (47.22% took one single antiepileptic drug, 12 cases (33.33% took two drugs, and 7 cases (19.44% took three drugs, while one of them underwent surgical treatment. After 0.50-10 year follow-up, seizures free happened in 7 cases (19.44%, improved in 16 cases (44.44%, and invalid in 13 cases (36.11%.  Conclusions Epilepsy is the most common nervous system performance in children TSC, and most seizures begin to happen in infants. The main types of onset are partial seizures and spasms. Most of the patients get improved with antiepileptic drugs. doi: 10.3969/j.issn.1672-6731.2014.12.011

  11. Clinical features and outcomes of blunt splenic injury in children

    Yang, Kaiying; Li, Yanan; Wang, Chuan; Xiang, Bo; Chen, Siyuan; Ji, Yi

    2017-01-01

    Abstract Although the spleen is the most commonly injured intra-abdominal organ after blunt trauma, there are limited data available in China. The objectives of this study were to investigate the clinical features and determine the risk factors for operative management (OM) in children with blunt splenic injury (BSI). A review of the medical records of children diagnosed with BSI between January 2010 and September 2016 at West China Hospital of Sichuan University was performed. A total of 101 patients diagnosed with BSI were recruited, including 76 patients transferred from other hospitals. The male-to-female ratio was 2.06:1, with a mean age of 7.8 years old. The most common injury season was summer and the most common injury mechanism was road traffic accidents. Sixty-eight patients suffered multiple injuries. Thirty-four patients received blood transfusions. Two patients died from multiple organ failure or hemorrhagic shock. Significant differences were observed in the injury season, injury mechanism, injury date, and hemoglobin levels between the isolated injury group and the multiple injuries group. The overall operative rate was 29.7%. Multivariate regression analysis revealed that age, blood transfusion, and grade of injury were independent risk factors for OM. Our study provided evidence that the management of pediatric BSI was variable. The operative rate in pediatric BSI may be higher in certain patient groups. Although nonoperative management is one of the standard treatment options, our data suggest that OM is an appropriate way to treat patients who are hemodynamically unstable. PMID:29390566

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

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

    2017-01-09

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

  13. Clinical features and MRI findings of blow-out fracture

    Yamanouchi, Yasuo; Yasuda, Takasumi; Kawamoto, Keiji; Inagaki, Takayuki; Someda, Kuniyuki.

    1996-01-01

    Precise anatomical understanding of orbital blow-out fracture lesions is necessary for the treatment of patients. Retrospectively, MRI findings were compared with the clinical features of pure type blow-out fractures and the efficacy of MRI in influencing a decision for surgical intervention was evaluated. Eighteen child (15 boys, 3 girls) cases were evaluated and compared with adult cases. The patients were classified into three categories (Fig.1) and two types (Fig.2) in accordance with the degree of protrusion of fat tissue. The degree of muscle protrusion also was divided into three categories (Fig. 3). Both muscle and fat tissue were protruding from the fracture site in 14 cases. Fat tissue protrusion alone was found in 3 cases. In contrast, no protrusion was seen in one case. The incarcerated type of fat prolapse was found in 40% of cases, while muscle tissue prolapse was found in 75% of patients. Marginal irregularity or swelling of muscle was observed in 11 patients. There was good correlation of ocular motor disturbance and MRI findings. Disturbance of eyeball movement was observed in all patients with either incarcerated fat tissue or marginal irregularity or swelling of muscle. In contrast, restriction of eyeball movement was rare in cases of no incarceration, even if the fracture was wide. Deformity or marginal irregularity of the ocular muscle demonstrated in MRI may suggest damage an adhesion to the muscle wall. When MRI reveals incarceration or severe prolapse of fat tissue, or deformity and marginal irregularity of the ocular muscle, surgical intervention should be considered. (author)

  14. Pathogenesis, clinical features and pathology of chronic arsenicosis

    Sengupta Sujit

    2008-01-01

    Full Text Available Arsenicosis is a multisystem disorder, with virtually no system spared from its vicious claw; though its predominant manifestations are linked to cutaneous involvement. Cutaneous effects take the form of pigmentary changes, hyperkeratosis, and skin cancers (Bowen′s disease, squamous cell carcinoma, and basal cell epithelioma. Peripheral vascular disease (blackfoot disease, hypertension, ischemic heart disease, noncirrhotic portal hypertension, hepatomegaly, peripheral neuropathy, respiratory and renal involvement, bad obstetrical outcome, hematological disturbances, and diabetes mellitus are among the other clinical features linked to arsenic toxicity. The effects are mediated principally by the trivalent form of arsenic (arsenite, which by its ability to bind with sulfhydryl groups present in various essential compounds leads to inactivation and derangement of body function. Though the toxicities are mostly linked to the trivalent state, arsenic is consumed mainly in its pentavalent form (arsenate, and reduction of arsenate to arsenite is mediated through glutathione. Body attempts to detoxify the agent via repeated oxidative methylation and reduction reaction, leading to the generation of methylated metabolites, which are excreted in the urine. Understandably the detoxification/bio-inactivation process is not a complete defense against the vicious metalloid, and it can cause chromosomal aberration, impairment of DNA repair process, alteration in the activity of tumor suppressor gene, etc., leading to genotoxicity and carcinogenicity. Arsenic causes apoptosis via free radical generation, and the cutaneous toxicity is linked to its effect on various cytokines (e.g., IL-8, TGF-β, TNF-α, GM-CSF, growth factors, and transcription factors. Increased expression of cytokeratins, keratin-16 (marker for hyperproliferation and keratin-8 and -18 (marker for less differentiated epithelial cells, can be related to the histopathological findings of

  15. Clinical features and MRI findings of blow-out fracture

    Yamanouchi, Yasuo; Yasuda, Takasumi; Kawamoto, Keiji [Kansai Medical Univ., Moriguchi, Osaka (Japan); Inagaki, Takayuki; Someda, Kuniyuki

    1996-06-01

    Precise anatomical understanding of orbital blow-out fracture lesions is necessary for the treatment of patients. Retrospectively, MRI findings were compared with the clinical features of pure type blow-out fractures and the efficacy of MRI in influencing a decision for surgical intervention was evaluated. Eighteen child (15 boys, 3 girls) cases were evaluated and compared with adult cases. The patients were classified into three categories (Fig.1) and two types (Fig.2) in accordance with the degree of protrusion of fat tissue. The degree of muscle protrusion also was divided into three categories (Fig. 3). Both muscle and fat tissue were protruding from the fracture site in 14 cases. Fat tissue protrusion alone was found in 3 cases. In contrast, no protrusion was seen in one case. The incarcerated type of fat prolapse was found in 40% of cases, while muscle tissue prolapse was found in 75% of patients. Marginal irregularity or swelling of muscle was observed in 11 patients. There was good correlation of ocular motor disturbance and MRI findings. Disturbance of eyeball movement was observed in all patients with either incarcerated fat tissue or marginal irregularity or swelling of muscle. In contrast, restriction of eyeball movement was rare in cases of no incarceration, even if the fracture was wide. Deformity or marginal irregularity of the ocular muscle demonstrated in MRI may suggest damage an adhesion to the muscle wall. When MRI reveals incarceration or severe prolapse of fat tissue, or deformity and marginal irregularity of the ocular muscle, surgical intervention should be considered. (author)

  16. Comorbid psychiatric disorders in depressed outpatients: demographic and clinical features.

    Rush, A John; Zimmerman, Mark; Wisniewski, Stephen R; Fava, Maurizio; Hollon, Steven D; Warden, Diane; Biggs, Melanie M; Shores-Wilson, Kathy; Shelton, Richard C; Luther, James F; Thomas, Brandi; Trivedi, Madhukar H

    2005-07-01

    This study evaluated the clinical and sociodemographic features associated with various degrees of concurrent comorbidity in adult outpatients with nonpsychotic major depressive disorder (MDD). Outpatients enrolled in the STAR*D trial completed the Psychiatric Diagnostic Screening Questionnaire (PDSQ). An a priori 90% specificity threshold was set for PDSQ responses to ascertain the presence of 11 different concurrent DSM-IV Axis I disorders. Of 1376 outpatients, 38.2% had no concurrent comorbidities, while 25.6% suffered one, 16.1% suffered two, and 20.2% suffered three or more comorbid conditions. Altogether, 29.3% met threshold for social anxiety disorder, 20.8% for generalized anxiety disorder, 18.8% for posttraumatic stress disorder, 12.4% for bulimia, 11.9% for alcohol abuse/dependence, 13.4% for obsessive-compulsive disorder, 11.1% for panic disorder, 9.4% for agoraphobia, 7.3% for drug abuse/dependence, 3.7% for hypochondriasis, and 2.2% for somatoform disorder. Those with more concurrent Axis I conditions had earlier ages at first onset of MDD, longer histories of MDD, greater depressive symptom severity, more general medical comorbidity (even though they were younger than those with fewer comorbid conditions), poorer physical and mental function, health perceptions, and life satisfaction; and were more likely to be seen in primary care settings. Participants had to meet entry criteria for STAR*D. Ascertainment of comorbid conditions was not based on a structured interview. Concurrent Axis I conditions (most often anxiety disorders) are very common with MDD. Greater numbers of concurrent comorbid conditions were associated with increased severity, morbidity, and chronicity of their MDD.

  17. Clinical and neuroradiological features of syringomyelia associated with Chiari malformation

    Isu, Toyohiko; Iwasaki, Yoshinobu; Akino, Minoru; Abe, Hiroshi; Tashiro, Kunio; Sudo, Kazumasa; Miyasaka, Kazuo [Hokkaido Univ., Sapporo (Japan). School of Medicine; Saito, Hisatoshi

    1990-01-01

    The clinical presentation and radiological features were analyzed in 30 cases of syringomyelia associated with Chiari malformation. None of the patients had spinal dysraphism. The age on admission ranged from 6 to 59 years with a mean of 27 years. Syringomyelia was diagnosed by CT myelography and or MRI from 1982 to 1988. The initial symptoms were skeletal abnormality (43%) such as scolisis (12 cases) or pescavus (one case), unilateral pain or numbness (40%) and unilateral motor weakness (17%). Frequently seen signs on admission were sensory deficit (100%), scoliosis (57%), muscle weakness (57%), muscle atrophy (37%) and lower cranial nerve palsy (40%). The neurological findings were asymmetrical in all patients. The characteristic neurological findings in the cases presenting under 20 years of age were unilateral sensory and motor deficits (61%) with decreased or absent deep tendon reflex on the same side. The localization of the syrinx in axial section varied according to the level even in the same case. In 15 cases with unilateral sensory disturbance or unilateral sensory and motor deficit, the syrinx was located in the region corresponding to the posterolateral portion on the same side as that of sensory disturbance in the cervical or thoracic level. On the other hand, in 15 cases with bilateral sensory and motor deficit, the syrinx was located in the central portion and extended into the posterolateral portion of the more affected side. The authors think that the syrinx which originates from the unilateral posterolateral portion, extends to involve the gray matter around the central canal and the posterolateral portion of the other side with progression of the syrinx to cause bilateral disturbance. As a result, unilateral neurological symptoms also become bilateral with progression of the syrinx. (author).

  18. Psychopathy: clinical features, developmental basis and therapeutic challenges.

    Thompson, D F; Ramos, C L; Willett, J K

    2014-10-01

    Psychopathy is a personality disorder characterized by deficits in personality and behaviour. Personality deficits are marked by interpersonal and affective facets, including pathological lying, grandiose sense of self-worth, lack of remorse and callousness. Behavioural deficits are defined by lifestyle and antisocial deficits, including impulsivity, parasitic lifestyle and poor behavioural controls. The objective of this review is to provide clinicians with (i) an appreciation of the clinical features of psychopathy, (ii) an understanding of the structural and functional derangements and the genetic and environmental factors which serve as the basis for the development of psychopathy and (iii) a summary of published reports of pharmacological approaches to the management of this disorder. A literature search of MEDLINE/PubMed (1966-present) was conducted using the MeSH search terms psychopathy and antisocial personality disorder alone and in combination with the subheading drug therapy. Additional databases included Web of Science (1945-present) and International Pharmaceutical Abstracts (1970-present) using the text words psychopath and antisocial personality were searched. A search of Amazon books using the search terms psychopathy and sociopathy was also performed. Bibliographies of relevant articles were searched for additional citations. All data sources in English were considered for inclusion. For background information, broad subject headings were searched for review articles first. Human and animal drug therapy articles were evaluated giving preference to those papers using a controlled trial methodology. Psychopathy is a personality disorder characterized by a lack of conscience, pathologic lying, manipulative behaviour and often superficial charm. The incidence of psychopathy in the general population is generally considered to be 0·6-4% with a higher proportion of males to females. Brain imaging studies of psychopaths suggest a smaller and less active

  19. Wilson's disease in children: clinical and diagnostic features

    Ayesha, H.; Choudhry, A.A.; Javed, M.T.; Javed, F.

    2002-01-01

    Objective: To study the clinical and diagnostic laboratory features of Wilsons disease in children and adolescents. Design: A prospective cohort study. Place and Duration of study: The study included patients diagnosed as Wilson s disease at the Department of Pediatrics Allied Hospital, Punjab medical College, Faisalabad from May 1997 to June 2001. Patients and methods: Patients presenting with liver or suggestive neurological disease were investigated. Others were diagnosed as a result of family screening. Diagnosis of neurologic disease was made if two of the following were present: Typical neurological findings, Kayser Fleischer corneal rings and low serum ceruloplasmin ( 100 mu gm) free serum copper (>10 mu gm/dl). In other forms and for family screening, 24 hours. Urinary copper (> 100 mu gm), free serum copper (>10 mu gm/dl), and wherever possible liver biopsy for histopathology and cytochemical staining by rubeanic acid was also done. Results: Twenty-seven patients with a mean age of 10.2 years were diagnosed as suffering from Wilson disease. Mean age for hepatic and neurological disease was 9 years and 11.5 years respectively. Youngest patient (neurologic) was 6 years old. 48% cases presented with neurological, 41% with hepatic and 4% with skeletal manifestations while 7 % were asymptomatic. Mean duration of symptoms before diagnosis was 6.1 months. Dysarthria (84.6%), tremors (69.2%), rigidity and poor school performance and hand writing (61.5%), dysphagia (46.1%) and dystonia (38.5%), were the most common neurologic findings. Chronic liver disease was seen in 73 % while acute forms were seen in 27 % cases. Two cases presented with fulminant hepatic failure. Consanguineous marriage of the parents was found in 70 % and family history of disease was present in 65 % cases. K-F (Kayser Fleischer) rings and low serum ceruloplasmin(<20 mg/dl) was found in 85% of all patients. In non neurologic types other tests of copper metabolism were done. Elevated urinary

  20. RATIONAL PHARMACOTHERAPY IN TAKOTSUBO CARDIOMYOPATHY

    S. Marchev

    2012-01-01

    Full Text Available Rational pharmacotherapy in Takotsubo cardiomyopathy is based on clinical picture and data of functional and laboratory investigations of concrete patient. In patients with hypotension and moderate-to-severe left ventricle outflow tract obstruction inotropic agents must not to be used because they can worsen the degree of obstruction. In these patients beta blockers can improve hemodynamics by causing resolution of the obstruction. If intraventricular thrombus is detected, anticoagulation for at least 3 months is recommended. The duration of anticoagulant therapy may be modified depending on the extent of cardiac function recovery and thrombus resolution. For patients without thrombus but with severe left ventricular dysfunction, anticoagulation is recommended until the akinesis or dyskinesis has resolved but not more than 3 months.

  1. Clinical features of patients with systemic lupus erythematosus (SLE ...

    of this study was to determine the most common features of patients with systemic lupus erythematosus ... Conclusion: Most of the findings correlate with similar studies worldwide. .... Sciences, University of the Free State to conduct the study.

  2. MRI of the cardiomyopathies

    Di Cesare, Ernesto

    2001-01-01

    We examined the potentialities of Magnetic resonance imaging (MRI) in the evaluation of the main cardiomyopathies: hypertrophic, dilated, restrictive and arrhythmogenic right ventricular. The hypertrophic cardiomyopathy is generally adequately investigated by echocardiography, that well defines the myocardial thickening and the obstruction of the left ventricular output. However, by echocardiography we still have difficulties in the evaluation of the apex of the left ventricle and the right ventricle involvement. MRI provides a complete evaluation of the heart with a clear evidence also of the echocardiographic dark zones by means of a clear evidence of the apex of the right ventricle. The dilated form is also well investigated by MRI that provides a clear evaluation of the volumes, mass and ejection fraction by means of the 3D analysis including conditions of the ventricular remodelling. Moreover, this technique helps in the differential diagnosis of acute myocarditis. In the acute phase of myocarditis (first 2 weeks), in fact, the myocardium produces high signal intensity on the T2 weighted sequences due to the presence of oedema. The third form of cardiomyopathy is the restrictive one, characterised by reduced diastolic filling and diastolic volume, normality of the systolic function and parietal thickness, interstitial fibrosis and enlargement of both atria. The mean potentiality of MRI is related to the differential diagnosis with constrictive pericarditis. Only in the former, the pericardium appears irregularly thickened with areas exceeding 4 mm of pericardial thickness. Finally, the right ventricular arrhythmogenic cardiomyopathy represents the main indication to MRI evaluation. With this imaging modality we are can obtain a clear morpho-functional evaluation of the right ventricle and distinguish the intramyocardial adipose substitution characterised by areas of high signal in the myocardium

  3. Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy

    K.Y. van Spaendonck-Zwarts (Karin); J.P. van Tintelen (Peter); D.J. van Veldhuisen (Dirk); R. van der Werf (Rik); J.D.H. Jongbloed (Jan); W.J. Paulus (Walter); D. Dooijes (Dennis); M.P. van den Berg (Maarten)

    2010-01-01

    textabstractBACKGROUND-: Anecdotal cases of familial clustering of peripartum cardiomyopathy (PPCM) and familial occurrences of PPCM and idiopathic dilated cardiomyopathy (DCM) together have been observed, suggesting that genetic factors play a role in the pathogenesis of PPCM. We hypothesized that

  4. Classified study and clinical value of the phase imaging features

    Dang Yaping; Ma Aiqun; Zheng Xiaopu; Yang Aimin; Xiao Jiang; Gao Xinyao

    2000-01-01

    445 patients with various heart diseases were examined by the gated cardiac blood pool imaging, and the phase was classified. The relationship between the seven types with left ventricular function index, clinical heart function, different heart diseases as well as electrocardiograph was studied. The results showed that the phase image classification could match with the clinical heart function. It can visually, directly and accurately indicate clinical heart function and can be used to identify diagnosis of heart disease

  5. Clinical Features and Patterns of Imaging in Cerebral Venous Sinus ...

    Background: Cerebral venous sinus thrombosis (CVST) is an uncommon neurological deficit. It shows a wide range of clinical manifestations that may mimic many other neurological disorders and lead to misdiagnosis. Imaging plays a key role in the diagnosis. Objective: To evaluate the clinical characteristics and patterns ...

  6. Echomorphology of cardiomyopathy: review of 217 cases from 1999 to 2010

    Ilyas, S.; Ilyas, H.; Fawad, A.; Hameed, A.; Fazli, A.

    2013-01-01

    Objective: To study echocardiogram features of different types of cardiomyopathy presenting over a 12 year period at a single centre in Peshawar. Methods: The series comprised a retrospective review of 13,788 consecutive echocardiograms carried out at the Muhammadi Hospital International Medical Research Centre, Hayatabad, Peshawar, from January 1999 to December 2010. Patients were split into two: Group I with paediatric and adolescent cases (0-18 years) and Group II with adults (>18 years). In the adult group, women with peripartum cardiomyopathy were subdivided into two groups of 18-30 years and 30 to 44 years. Standard Echo B and M modes and Doppler parameters were recorded to ascertain the diagnoses of common primary and secondary cardiomyopathies. Patients with myocarditis with chambers dilatation and global dysfunction, and cardiopathy associated with major cardiovascular diseases were excluded. SPSS 14 was used for statistical analysis. Results: Cardiomyopathy was diagnosed in 217 (1.57%) cases. There were 144 (66%) cases of dilated cardiomyopathy with a mean age of 13+-14.8 years; 17 (8%) cases of hypertrophic cardiomyopathy with a mean age of 12+-11.5 years; and 7 (3%) cases of restrictive cardiomyopathy with a mean age of 31+-7.8 years. Primary cardiac amyloidosis was confirmed in 9 (4%) cases, and peripartum cardiomyopathy in 25 (11%) females. Rare subtypes were found in 15 (7%) cases. Conclusion: DCM was the most frequently diagnosed subtype of cardiomyopathy followed by HCM in both the adult and paediatric age groups. (author)

  7. Danon’s disease as a cause of hypertrophic cardiomyopathy

    I. V. Leontyeva

    2015-01-01

    Full Text Available Hypertrophic cardiomyopathy is the most common inherited disease of the myocardium. The causes of the disease are heterogeneous; its primary form results from mutations in the genes encoding cardiac sarcomeric proteins; its secondary (metabolic and syndromic forms develop due to mutations in the genes encoding non-sarcomeric proteins. Glycogenosis is the most common cause of the metabolic ones of hypertrophic cardiomyopathy. Danon’s disease (lysosome-associated membrane protein 2 (LAMP2-cardiomyopathy is a form of glycogenosis and it is characterized by a typical triad: hypertrophic cardiomyopathy, mental retardation, and skeletal myopathy. The disease occurs with mutations in the LAMP2 gene; X-linked dominant inheritance. LAMP2-cardiomyopathy does not virtually differ in its clinical manifestations from the severe form of hypertrophic cardiomyopathy, which results from mutations in the sarcomeric protein genes. The disease is characterized by a poor progressive course with the high probability of causing sudden death or with the progression of severe heart failure. Implantation of a cardioverter defibrillator is a main method to prevent sudden cardiac death. 

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

    Hai Chen

    2016-01-01

    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.

  9. Suicide attempts and clinical features of bipolar patients

    Berkol, Tongu? D.; ?slam, Serkan; K?rl?, Ebru; P?narba??, Rasim; ?zy?ld?r?m, ?lker

    2016-01-01

    Objectives: To identify clinical predictors of suicide attempts in patients with bipolar disorder. Methods: This study included bipolar patients who were treated in the Psychiatry Department, Haseki Training and Research Hospital, Istanbul, Turkey, between 2013 and 2014; an informed consent was obtained from the participants. Two hundred and eighteen bipolar patients were assessed by using the structured clinical interview for Diagnostic and Statistical Manual of Mental Disorders, 4th edition...

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

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

    1982-01-01

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

  11. Cardiomyopathy in the pediatric patients

    Shi-Min Yuan

    2018-04-01

    Full Text Available Pediatric cardiomyopathies are a group of myocardial diseases with complex taxonomies. Cardiomyopathy can occur in children at any age, and it is a common cause of heart failure and heart transplantation in children. The incidence of pediatric cardiomyopathy is increasing with time. They may be associated with variable comorbidities, which are most often arrhythmia, heart failure, and sudden death. Medical imaging technologies, including echocardiography, cardiac magnetic resonance, and nuclear cardiology, are helpful in reaching a diagnosis of cardiomyopathy. Nevertheless, endomyocardial biopsy is the final diagnostic method of diagnosis. Patients warrant surgical operations, such as palliative operations, bridging operations, ventricular septal maneuvers, and heart transplantation, if pharmaceutical therapies are ineffective. Individual therapeutic regimens due to pediatric characteristics, genetic factors, and pathogenesis may improve the effects of treatment and patients' survival. Key Words: cardiomyopathy, classification, pediatrics

  12. [FEATURES OF CLINICAL COURSE OF INFECTIOUS MONONUCLEOSIS IN CHILDREN DEPENDENT ON ETIOLOGY].

    Kharchenko, Iu P; Zarets'ka, A V; Slobodnichenko, L M; Iurchenko, I V

    2015-01-01

    The article highlights the clinical features of infectious mononucleosis in children (based on the analysis of the data for children of different ages treated in Odessa clinical hospital of infectious diseases in connection with infectious mononucleosis) based on etiological factors.

  13. The clinical and radiological features of Fanconi's anaemia pictorial review

    De Kerviler, E.; Guermazi, A.; Zagdanski, A.-M.; Gluckman, E.; Frija, J.

    2000-01-01

    Fanconi's anaemia is a severe refractory anaemia, associated with congenital malformations in approximately two-thirds of cases. Although these malformations may involve every organ system, suggestive dysmorphic features include growth retardation, radial ray deformities and urinary malformations. These malformations are not specific for Fanconi's anaemia, but should be recognized during pregnancy, or later in childhood, and suggest the possibility of inherited haematopoiesis disorders. De Kerviler, E. (2000)

  14. Extracting BI-RADS Features from Portuguese Clinical Texts.

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

    2012-01-01

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

  15. Takotsubo cardiomyopathy after a dancing session: a case report

    Ibrahim Ammar A

    2011-10-01

    Full Text Available Abstract Introduction Stress-induced (Takotsubo cardiomyopathy is a rare form of cardiomyopathy which presents in a manner similar to that of acute coronary syndrome. This sometimes leads to unnecessary thrombolysis therapy. The pathogenesis of this disease is still poorly understood. We believe that reporting all cases of Takotsubo cardiomyopathy will contribute to a better understanding of this disease. Here, we report a patient who, in the absence of any recent stressful events in her life, developed the disease after a session of dancing. Case presentation A 69-year-old Caucasian woman presented with features suggestive of acute coronary syndrome shortly after a session of dancing. Echocardiography and a coronary angiogram showed typical features of Takotsubo cardiomyopathy and our patient was treated accordingly. Eight weeks later, her condition resolved completely and the results of echocardiography were totally normal. Conclusions Takotsubo cardiomyopathy, though transient, is a rare and serious condition. Although it is commonly precipitated by stressful life events, these are not necessarily present. Our patient was enjoying one of her hobbies (that is, dancing when she developed the disease. This case has particular interest in medicine, especially for the specialties of cardiology and emergency medicine. We hope that it will add more information to the literature about this rare condition.

  16. Hypertrophic Cardiomyopathy Associated with Mid-cavity Obstruction and High Left Intraventricular Pressure

    A. Bejiqi, Ramush; J. Retkoceri, Ragip; Sh. Bejiqi, Hana

    2011-01-01

    We report a case of a child, with a rare form of the idiopathic hypertrophic cardiomyopathy, associated with mid-cavity obstruction and high intraventricular peak pressure. Cardiomyopathy, diagnosed antenataly, was followed postnataly and, despite of a lot echocardiographic findings - the growing, development and clinical signs are minimal. PMID:23407799

  17. Hypertrophic Cardiomyopathy Associated with Mid-cavity Obstruction and High Left Intraventricular Pressure

    A. Bejiqi, Ramush; J. Retkoceri, Ragip; Sh. Bejiqi, Hana

    2011-01-01

    We report a case of a child, with a rare form of the idiopathic hypertrophic cardiomyopathy, associated with mid-cavity obstruction and high intraventricular peak pressure. Cardiomyopathy, diagnosed antenataly, was followed postnataly and, despite of a lot echocardiographic findings - the growing, development and clinical signs are minimal.

  18. HYPERTROPHIC CARDIOMYOPATHY AS A PART OF INHERITED MALFORMATION SYNDROMES IN INFANTS

    M.V. Tural'chuk

    2011-01-01

    Full Text Available The data of clinical and instrumental examination of two infantile patients with obstructive hypertrophic cardiomyopathy in association with marked multisystem involvement as a picture of inherited malformation syndromes are given.Key words: infants, hypertrophic cardiomyopathy, LEOPARD syndrome, Noonan syndrome.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2011; 10 (3: 166–169

  19. Muscle Stem Cell Therapy for the Treatment of DMD Associated Cardiomyopathy

    2014-10-01

    cardiomyopathy. Duchenne muscular dystrophy (DMD), one of the progressive muscular dystrophies , is an X-linked muscle disease caused by mutations in the...including Duchenne muscular dystrophy (DMD), develop progressive cardiomyopathy. Cellular cardiomyoplasty, which involves the transplantation of...hepatic failure in a clinically relevant non-human primate model of this process. 15. SUBJECT TERMS Project 1: Duchenne muscular dystrophy

  20. Current and future role of echocardiography in arrhythmogenic right ventricular dysplasia/cardiomyopathy

    Mast, Thomas P.; Teske, Arco J.; Doevendans, Pieter A.; Cramer, Maarten J.

    Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited progressive cardiomyopathy, clinically characterized by ventricular arrhythmias and increased risk of sudden cardiac death. Echocardiography has a role in the diagnosis and prognosis of ARVD/C. However, in the current

  1. Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy

    Lakdawala, Neal K; Thune, Jens J; Colan, Steven D

    2012-01-01

    Sarcomere mutations cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM); however, the steps leading from mutation to disease are not well described. By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere...... mutations in DCM and investigate how these manifestations differ from sarcomere mutations associated with HCM....

  2. SYSTEMIC LUPUS ERYTHEMATOSUS AND OPPORTUNISTIC INFECTIONS: PREVALENCE, CLINICAL FEATURES

    O N Egorova

    2008-12-01

    Subjects and methods. Sixty-seven patients with a 1-to-7 history of SLE who received first-line therapy were examined. Results. The analysis of the history data and the results of a serological survey identified 3 groups of patients: 1 35 patients with viral infection, of them 9 had mixed viral-and-bacterial infections; 2 14 with bacterial infections and 3 18 patients without viral-and-bacterial complications. The analysis of clinical symptoms established a correlation of high titers of antibodies to cytomegalovirus (CMV and Epstein-Barr virus (EBV with symptoms, such as fever, arthritis, lymphadenopathy, carditis, hepatomegaly and erythema migrans eruption. However, having the similar clinical manifestations, CMV and EBV infections had some organ specificity. In SLE, concomitant comorbid infection, viral infection in particular, contributed to the development of the clinical picture polymorphism with the protracted, remitting inflammatory process and the inadequate efficiency of glucocorticoid and immunosuppressive therapy.

  3. CLINICAL AND FUNCTIONAL FEATURES OF PANCREAS STATE IN RHEUMATOID ARTHRITIS

    O. O. Basieva

    2000-01-01

    Full Text Available Aim of study: complex pancreas study in rheumatoid arthritis (RA. Material and methods: 120 RA pts were examined clinically Pancreas US-and biochemical study (level of a-amylase and lipase of blood serum by kinetic-calorimetric method was performed in this grouh. Results: 50.8% of pts demonstrated increase of pancreas echo, in 23.3%- widened Wirsung s duct, in 45%- single small focal indurations, more often in the body and cauda pancreatis. Decrease of lipolitic and amylolytic pancreas activity is characteristic for RA, especially in systemic process and long-term disease. Clinical and functional disturbances are connected with morphological changes.

  4. Clinical features of ceroid lipofuscinosis in border collie dogs.

    Studdert, V P; Mitten, R W

    1991-04-01

    Ceroid lipofuscinosis was diagnosed by histopathological and histochemical findings in 17 related border collie dogs and by clinical signs in 6 of their litter mates. Behavioural changes, first hyperactivity and later aggression, commenced at 16 to 23 (mean 19.5) months of age. Motor abnormalities and blindness were observed at the mean ages of 20.8 and 21.2 months, respectively. All dogs were euthanased 1 to 6 months after the onset of clinical signs, mean age 23.1 months. Pedigree data supported an autosomal recessive mode of inheritance.

  5. Prevalence of cardiomyopathy in duchenne and becker's muscular dystrophy

    Sultan, A.; Fayaz, M.

    2008-01-01

    Cardiac assessment was not done routinely in Duchenne (DMD) and Becker muscular dystrophy (BMD) patients in Northern region of England while evidence was gathering on progressive cardiomyopathy in these patients. We wanted to find out the prevalence, progression and clinical features of cardiac involvement in Duchenne and Becker muscular dystrophy. Methods: It is a retrospective review of clinical, electrocardiographic and echocardiographic assessments. The notes of 52 Duchenne and Becker muscular dystrophy patients were reviewed out of which 32 had DMD, 6 had Intermediate muscular dystrophy (IMD) and 14 had BMD. Prevalence of preclinical and clinically evident cardiac involvement was 88.4% in DMD and BMD patients. Sixty nine% of patients had clinically evident cardiac involvement but only four patients had cardiac symptoms in the form of palpitations, out of which two were due to respiratory dysfunction and others was due to cardiac failure. Clinical examination of the rest of all of the patients was unremarkable. Electrocardiogram was abnormal in 88.4% of patients. Conduction defects were found in 19.4% of patients. Echocardiogram was abnormal in 80.7% of patients but all were poor echo subjects including those who had normal echocardiogram. Though most patients were asymptomatic, a high percentage had evidence of preclinical and clinically evident cardiac involvement. So in all patients with Xp21 linked muscular dystrophy a routine baseline cardiac assessment should be done at the age of 10 years and reviewed after intervals of one to two years. (author)

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

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

    2015-01-01

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

  7. Clinical and haematological features of stress induced Babesiusis in ...

    Studies on actively stressedB. equi infected premuned indigenous polo horses, manifested severe clinical syndromes characterised by partial anorexia, hyperthermia, lethergy, extreme weakness, marked dehydration, ecchymotic third eye lid, pale mucous membranes, sternal recumbency and coma. Some horses showed ...

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

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

    2008-01-01

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

  9. Risk Factors, Clinical Features and Management Of Children With ...

    In spite of the diarrhoeal disease control Programme of WHO and campaign efforts of the Nigerian government in the prevention and management ofdiarrhoea, the disease still remains a major causes of death among children under 5 years in Nigerian. Hence this study was aimed at assessing the risk factors, clinical ...

  10. Neurocognitive impairment in plwha: clinical features and assessment

    People with HAND have impairment on multiple cognitive domains, including attention, concentration, memory, executive function, motor functioning and speed of information processing, and sensory perceptual/motor skills deficits. The milder forms of HAND are easily missed. Diagnosis can be made on clinical grounds in ...

  11. Clinical features of diabetes retinopathy in elderly patients with type ...

    Objective: The objective was to estimate the prevalence and clinical characteristics of diabetes retinopathy (DR) in elderly individuals with type 2 diabetes mellitus in Northern Chinese. Materials and Methods: 595 eligible subjects (263 men, 332 women) assisted by the community health service center in Beijing, China ...

  12. Clinical and molecular features of high-grade osteosarcoma

    Anninga, Jakob Klaas

    2013-01-01

    It can be concluded from this thesis that high-grade osteosarcoma is at clinical, pathological and molecular level a heterogeneous disease. To treat high-grade osteosarcoma, neo-adjuvant chemotherapy should be combined with radical surgery, irrespective the localization. There are only 4 effective

  13. Clinical Features of Primary Glaucoma in South East Nigeria ...

    Background: The clinical course of glaucoma depends on the type, onset, severity and response to treatment. The intraocular pressure and heredity also play a role in its presentation as members of the same family tend to have the same type of glaucoma. This paper seeks to address the problem of primary open angle ...

  14. Clinical Features, Complications and Treatment Outcome of Brucella ...

    Purpose: Brucellosis is a multi-systemic infection that is endemic in some parts of the world. The purpose of this study was to examine the epidemiology as well as the clinical and haematological characteristics, complications, and treatment outcome of patients with brucellosis at the King Fahd Hospital of the University ...

  15. The Diagnostic importance of clinical and radiologic features of the Multiple Cemento-osseous dysplasia

    Han, M. R.; Kim, Y. H.; Kang, B. C.

    1998-01-01

    This case was diagnosed as multiple cementoosseous dysplasia on the basis of clinical and radiological features but was diagnosed as ossifying fibroma on the basis of histopathological feature. The histopathologic features of the multiple cementoosseous dysplasia and cementoossifying fibroma have common features of cementum, fibrous network and bone. Multiple cementoosseous dysplasia is reactive lesion and shows restricted lesion size, occurred on anterior and posterior tooth of the mandible and needs no treatment except periodic follow up. But Cementoossifying fibroma is the true neoplasm and grows continuously and needs surgical removal. The final diagnosis of the multiple cementoosseous dysplasia requires good correlation of the clinical histopathological, and radiological features.

  16. Oropharyngeal Dysphagia in Dermatomyositis: Associations with Clinical and Laboratory Features Including Autoantibodies

    Mugii, Naoki; Hasegawa, Minoru; Matsushita, Takashi; Hamaguchi, Yasuhito; Oohata, Sacihe; Okita, Hirokazu; Yahata, Tetsutarou; Someya, Fujiko; Inoue, Katsumi; Murono, Shigeyuki; Fujimoto, Manabu; Takehara, Kazuhiko

    2016-01-01

    Objective Dysphagia develops with low frequency in patients with dermatomyositis. Our objective was to determine the clinical and laboratory features that can estimate the development of dysphagia in dermatomyositis. Methods This study included 92 Japanese patients with adult-onset dermatomyositis. The associations between dysphagia and clinical and laboratory features including disease-specific autoantibodies determined by immunoprecipitation assays were analyzed. Results Videofluoroscopy sw...

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

    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…

  18. Single and Combined Diagnostic Value of Clinical Features and Laboratory Tests in Acute Appendicitis

    Laméris, Wytze; van Randen, Adrienne; Go, Peter M. N. Y. H.; Bouma, Wim H.; Donkervoort, Sandra C.; Bossuyt, Patrick M. M.; Stoker, Jaap; Boermeester, Marja A.

    2009-01-01

    Objectives: The objective was to evaluate the diagnostic accuracy of clinical features and laboratory test results in detecting acute appendicitis. Methods: Clinical features and laboratory test results were prospectively recorded in a consecutive series of 1,101 patients presenting with abdominal

  19. Lower back pain: clinical features and examination of patients

    I.V. Damulin

    2014-01-01

    Full Text Available This article discusses the clinical and paraclinical aspects of pain syndromes of the lumbosacral localization. The past medical history (including the working conditions of the patient and the presence of constant stress, physical and paraclinical examination, and assessment of psychological condition are important for establishing the correct diagnosis. It should be noted that there is no strict parallelism between the presence of back pain and the results of paraclinical examination of the spine. Therefore, the comprehensive assessment of the patient's clinical status, including the state of the musculoskeletal system, has a leading value for correct diagnosis and selection of therapy. Increasing pain when coughing or sneezing is noted in patients with discogenic pain syndromes; the development of pain along the root innervation often occurs simultaneously with the reduction of localized pain in the lumbar region. The diagnostic value of the radiography and neuroimaging data is unquestioned; however, these methods allow one to evaluate mainly the anatomical rather than pathophysiological changes. The direct dependence between the anatomical changes and the clinical situation is not typical of back pain. Magnetic resonance imaging (MRI is when the injury level is unclear and the clinical examination data indicate pathology of the spinal cord or soft tissues. Moreover, MRI data help either to eliminate or confirm a tumor or the inflammatory nature of the pain syndrome. MRI is also an informative method in patients who have undergone surgery for vertebral pathology. Computed tomography is an effective diagnosis method only in those cases where the symptomatology clearly indicates the injury level and the bone changes are the pain cause with a high degree of probability. Electromyography (EMG is very informative in patients with radiculopathies; it allows one to evaluate the pathophysiological changes in such patients. However, there usually is

  20. The early clinical features of dengue in adults: challenges for early clinical diagnosis.

    Jenny G H Low

    Full Text Available BACKGROUND: The emergence of dengue throughout the tropical world is affecting an increasing proportion of adult cases. The clinical features of dengue in different age groups have not been well examined, especially in the context of early clinical diagnosis. METHODOLOGY/PRINCIPAL FINDINGS: We structured a prospective study of adults (≥ 18 years of age presenting with acute febrile illness within 72 hours from illness onset upon informed consent. Patients were followed up over a 3-4 week period to determine the clinical outcome. A total of 2,129 adults were enrolled in the study, of which 250 (11.7% had dengue. Differences in the rates of dengue-associated symptoms resulted in high sensitivities when the WHO 1997 or 2009 classification schemes for probable dengue fever were applied to the cohort. However, when the cases were stratified into age groups, fewer older adults reported symptoms such as myalgia, arthralgia, retro-orbital pain and mucosal bleeding, resulting in reduced sensitivity of the WHO classification schemes. On the other hand, the risks of severe dengue and hospitalization were not diminished in older adults, indicating that this group of patients can benefit from early diagnosis, especially when an antiviral drug becomes available. Our data also suggests that older adults who present with fever and leukopenia should be tested for dengue, even in the absence of other symptoms. CONCLUSION: Early clinical diagnosis based on previously defined symptoms that are associated with dengue, even when used in the schematics of both the WHO 1997 and 2009 classifications, is difficult in older adults.

  1. [Usher syndrome: clinical features, diagnostic options, and therapeutic prospects].

    Seeliger, M W; Fischer, M D; Pfister, M

    2009-06-01

    Usher syndrome denotes a clinically and genetically heterogeneous combination of retinitis pigmentosa and sensorineural deafness. The division into subtypes I, II, and III is based on the degree of hearing loss: Type I is characterized by deafness from birth together with ataxia and retarded motor development, type II by a stationary deafness of a moderate degree, and type III by a progressive deafness with adult onset. In Germany, Usher syndrome currently bears particular relevance because in January 2009 a new compulsory screening of auditory function in newborn infants was introduced. Consequently, it can be expected that a higher number of patients with Usher syndrome will be identified in early childhood and referred to ophthalmologists. The focus of this work is to introduce the typical clinical picture of Usher syndrome, summarize diagnostic options, and give an overview of therapeutic strategies.

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

    Geraldo Bezerra da Silva Junior

    2015-02-01

    Full Text Available 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.

  3. Whipple's disease. Report of five cases with different clinical features

    FERRARI,Maria de Lourdes de Abreu; VILELA,Eduardo Garcia; FARIA,Luciana Costa; COUTO,Claudia Alves; SALGADO,Célio Jefferson; LEITE,Virgínia Rios; BRASILEIRO FILHO,Geraldo; BAMBIRRA,Eduardo Alves; MENDES,Claudia Maria de Castro; CARVALHO,Silas de Castro; OLIVEIRA,Celso Affonso de; CUNHA,Aloísio Sales da

    2001-01-01

    Whipple's disease (WD) is a rare systemic disease of infectious etiology which involves the small intestine but can virtually affect any organ. We present here five cases (four males and one female) ranging in age from 20 to 59 years. All patients had intestinal involvement associated or not with clinical manifestations linked to this organ. Vegetation in the tricuspid valve was observed in one patient, suggesting endocarditis caused by Tropheryma whippelii, with disappearance of the echocard...

  4. Clinical and audiometric features of presbycusis in Nigerians.

    Sogebi, O A; Olusoga-Peters, O O; Oluwapelumi, O

    2013-12-01

    Presbycusis is the most common sensory impairment associated with ageing and it presents with variability of symptoms. Physicians need to recognize early clinical and audiometric signs of presbycusis in order to render adequate and quality care to patients and reduce associated morbidities. To characterize the clinical modes of presentation and the typical audiometric tracings among patients with presbycusis. This descriptive, prospective hospital-based study was conducted in the Ear, Nose and Throat (ENT) clinic of Olabisi Ona hing Hospital, (OOUTH) Sagamu, Nigeria. Patients with clinical diagnosis of presbycusis confirmed with bilateral sensorineural hearing loss (SNHL) on diagnostic audiometry were administered with questionnaires. Information obtained was analyzed using SPSS statistical package version 17.0 and presented in descriptive forms as percentages, means and graphs. Sixty-nine patients were diagnosed with presbycusis (M:F =1.6:1). Modal age group was 71-80 years. Hearing loss 88.4%, tinnitus 79.7% and vertigo 33.3% were the major symptoms on presentation. The average duration of symptoms before presentation was 2.6 years. There was positive history of ototoxic drugs usage in 24.6 %, family history in 11.6 %, hypertension in 34.8% and osteoarthritis in 13.0%. The most common type of audiometric pattern was strial. Hearing losses increased with age both at the speech and at the higher frequencies of sounds. We found hearing impairment affected both speech and higher frequencies and the strial type of audiometric pattern was most common. The need for screening for hearing impairment from early middle age in symptomatic individuals is emphasized.

  5. Persistent sciatic artery: clinical, embryologic, and angiographic features

    Mandell, V.S.; Jaques, P.F.; Delaney, D.J.; Oberheu, V.

    1985-01-01

    The persistent sciatic artery is a rare but interesting and clinically pertinent vascular anomaly that may present as a buttock aneurysm or as an ischemic or embolic disease. Its correct angiographic diagnosis depends on recognition of an abnormally large internal iliac artery, appropriate injection and adequate timing to fill and follow flow into the large vessel, and recognition and differentiation of the tapering superficial femoral artery from routine occlusive disease so that an accurate picture of lower leg runoff is provided

  6. Occurrence, clinical features and outcome of canine pancreatitis (80 cases).

    Pápa, Kinga; Máthé, Akos; Abonyi-Tóth, Zsolt; Sterczer, Agnes; Psáder, Roland; Hetyey, Csaba; Vajdovich, Péter; Vörös, Károly

    2011-03-01

    Medical records of 80 dogs diagnosed with acute pancreatitis during a 4-year period were evaluated regarding history, breed predilection, clinical signs and additional examination findings. Cases were selected if compatible clinical symptoms, increased serum activity of amylase or lipase and morphologic evidence of pancreatitis by ultrasonography, laparotomy or necropsy were all present. Like in other studies, neutered dogs had an increased risk of developing acute pancreatitis. Although breed predilection was consistent with earlier reports, some notable differences were also observed. Apart from Dachshunds, Poodles, Cocker Spaniels and Fox Terriers, the sled dogs (Laikas, Alaskan Malamutes) also demonstrated a higher risk for pancreatitis according to our results. Concurrent diseases occurred in 56 dogs (70%), diabetes mellitus (n = 29, 36%) being the most common. Clinical signs of acute pancreatitis were similar to those observed in other studies. The study group represented a dog population with severe acute pancreatitis, having a relatively high mortality rate (40%) compared to data of the literature. Breed, age, gender, neutering and body condition had no significant association with the outcome. Hypothermia (p = 0.0413) and metabolic acidosis (p = 0.0063) correlated significantly with poor prognosis and may serve as valuable markers for severity assessment in canine acute pancreatitis.

  7. Dactylitis in psoriatic arthritis: clinical features, diagnosis, immunopathogenesis, and treatment

    T. V. Korotaeva

    2018-01-01

    Full Text Available When dactylitis is detected in a patient with psoriatic arthritis (PsA, it is necessary to use active treatment as soon as possible, since in the absence of therapy the disease progresses to joint erosion and  functional disorders. The paper considers the clinical signs and  diagnosis of PsA and notes the importance of differential diagnosis in this sign with other joint inflammatory diseases. It points to the  necessity of elaborating common approaches to an objective  assessment of the severity of dactylitis. Its immunopathogenesis and main treatment areas, including the use of biological agents (BAs,  are detailed. There are data of clinical trials that have evaluated the  efficiency of treatment for dactylitis and established that in most  cases, the use of BAs considerably reduce not only the severity of its clinical signs, but also concomitant bone marrow edema. It is noted  that the development of new pathogenetic treatments targeting a number of currently established biologically active molecules that  play an important role in the pathogenesis of dactylitis will enhance  the efficiency of treatment in patients with PsA.

  8. Whipple's disease. Report of five cases with different clinical features.

    Ferrari, M de L; Vilela, E G; Faria, L C; Couto, C A; Salgado, C J; Leite, V R; Brasileiro Filho, G; Bambirra, E A; Mendes, C M; Carvalho, S de C; de Oliveira, C A; da Cunha, A S

    2001-01-01

    Whipple's disease (WD) is a rare systemic disease of infectious etiology which involves the small intestine but can virtually affect any organ. We present here five cases (four males and one female) ranging in age from 20 to 59 years. All patients had intestinal involvement associated or not with clinical manifestations linked to this organ. Vegetation in the tricuspid valve was observed in one patient, suggesting endocarditis caused by Tropheryma whippelii, with disappearance of the echocardiographic alterations after treatment. In one of the male patients the initial clinical manifestation was serologically negative spondylitis, with no diarrhea occurring at any time during follow-up. Ocular involvement associated with intestinal malabsorption and significant weight loss were observed in one case. In the other two cases, diarrhea was the major clinical manifestation. All patients were diagnosed by histological examination of the jejunal mucosa and, when indicated, of extraintestinal tissues by light and electron microscopy. After antibiotic treatment, full remission of symptoms occurred in all cases. A control examination of the intestinal mucosa performed after twelve months of treatment with sulfamethoxazole-trimethoprim revealed the disappearance of T. whippelii in four patients. The remaining patient was lost to follow-up.

  9. Whipple's disease. Report of five cases with different clinical features

    FERRARI Maria de Lourdes de Abreu

    2001-01-01

    Full Text Available Whipple's disease (WD is a rare systemic disease of infectious etiology which involves the small intestine but can virtually affect any organ. We present here five cases (four males and one female ranging in age from 20 to 59 years. All patients had intestinal involvement associated or not with clinical manifestations linked to this organ. Vegetation in the tricuspid valve was observed in one patient, suggesting endocarditis caused by Tropheryma whippelii, with disappearance of the echocardiographic alterations after treatment. In one of the male patients the initial clinical manifestation was serologically negative spondylitis, with no diarrhea occurring at any time during follow-up. Ocular involvement associated with intestinal malabsorption and significant weight loss were observed in one case. In the other two cases, diarrhea was the major clinical manifestation. All patients were diagnosed by histological examination of the jejunal mucosa and, when indicated, of extraintestinal tissues by light and electron microscopy. After antibiotic treatment, full remission of symptoms occurred in all cases. A control examination of the intestinal mucosa performed after twelve months of treatment with sulfamethoxazole-trimethoprim revealed the disappearance of T. whippelii in four patients. The remaining patient was lost to follow-up.

  10. Tuberculous spondylodiscitis: epidemiology, clinical features, treatment, and outcome.

    Trecarichi, E M; Di Meco, E; Mazzotta, V; Fantoni, M

    2012-04-01

    Tuberculous spondylodiscitis (TS) is a rare but serious clinical condition which may lead to severe deformity and early or late neurological complications. To discuss certain aspects of the approach to TSs, focusing upon epidemiology, diagnosis, and treatment outcome. For the purpose of this review, a literature search was performed using the Pubmed database through to 19th October 2011 to identify studies published in the last 20 years, concerned in epidemiological, clinical, diagnostic, and therapeutical aspects of TS in adults. Only studies drafted in English language and reporting case series of more than 20 patients have been included. TS has been reported to accounts for 1-5% of all TB cases, and for about 50% of the cases of articulo-skeletal TB infections. Despite the actual availability of more effective diagnostic tools, early recognition of TS remains difficult and a high index of suspicion is needed due to the chronic nature of the disease and its insidious and variable clinical presentation. A prompt diagnosis is required to improve long term outcome, and a microbiological confirmation is recommended to enable appropriate choice of anti-mycobacterial agents. Surgery has an important role in alleviating pain, correcting deformities and neurological impairment, and restoring function. Further studies are required to assess the appropriate duration of anti-microbial treatment, also in regarding of a combined surgical approach.

  11. Suicide attempts and clinical features of bipolar patients.

    Berkol, Tonguç D; İslam, Serkan; Kırlı, Ebru; Pınarbaşı, Rasim; Özyıldırım, İlker

    2016-06-01

    To identify clinical predictors of suicide attempts in patients with bipolar disorder. This study included bipolar patients who were treated in the Psychiatry Department, Haseki Training and Research Hospital, Istanbul, Turkey, between 2013 and 2014; an informed consent was obtained from the participants. Two  hundred and eighteen bipolar patients were assessed by using the structured clinical interview for Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) Axis-I (SCID-I) in order to detect all possible psychiatric comorbid diagnoses. Clinical predictors of suicide attempts were examined in attempters and non-attempters. The study design was retrospective. The lifetime suicide attempt rate for the entire sample was 19.2%. Suicide attempters with bipolar disorder had more lifetime comorbidity of eating disorder. Female gender and family history of mood disorder were significant predictors for suicide attempts. There was no difference between groups in terms of bipolar disorder subtype, onset age of bipolar disorder, total number of episodes, first and predominant episode type, suicide history in first degree relatives, severity of episodes, and hospitalization and being psychotic. Our study revealed that female gender, family history of mood disorder, and eating disorder are more frequent in bipolar patients with at least one suicide attempt.

  12. Clinical features and computerized tomography in chronic schizophrenia

    Shimada, Hitoshi; Nagayama, Motowo; Hori, Akira

    1990-01-01

    Computed tomography (CT) scans and clinical manifestations were compared in severe (53) and mild (42) schizophrenic patients. Severe patients were defined as having been hospitalized during the previous 3 years or more, and mild patients as having lived at home. Regarding psychiatric symptoms, behavior, dosage of antipsychotic agents, and admission duration or disease duration, there were significant differences between the severe and mild groups. Both Hasegawa's and Moriya's dementia rating scales were significantly lower in the severe group than the mild group. Cranial CT scans were analyzed for the Sylvian fissure, third ventricle, body of the lateral ventricle, frontal lobe, and parietofrontal cortex. There were significant differences in CT scans for the Sylvian fissure, third ventricle, and body of the lateral ventricle between the severe and mild groups. For the other two sites, no significant differences were observed. The Sylvian fissure was significantly dilatated in the severe group. Dilatation of the Sylvian fissure was well correlated with clinical manifestations, such as language, feeling expression, decreased will, strange behavior, and disease recognition, reflecting clinical severity. (N.K.)

  13. Clinical features and genetic analysis of tuberous sclerosis pedigrees

    LI Ya-qin

    2012-06-01

    Full Text Available Objective In order to understand tuberous sclerosis complex better, the clinical manifestation, imaging characteristics, and genetic characteristics of tuberous sclerosis complex from 3 pedigrees were investigated. Methods The clinical data of patients from 3 tuberous sclerosis families were collected. The gene mutation type of TSC2 of proband in pedigree one was determined by PCR and direct gene sequencing. Results All of the 3 probands went to our clinic for the reason of epilepsy. Brain imaging examination noted intracranial nodular calcification. EEG showed comprehensive spines and slow waves, sharp waves. The pedigree 1 has family history, two male patients and 3 female patients, all had facial angiofibromas and epilepsy. Gene mutation analysis of TSC2 demonstrated the c.1444-2A > C mutation in index patient. All the 3 index patients had mental retardation, autism and hypopigmented macule. Conclusion For infants and young children with epilepsy as the first symptom, accompanied by mental retardation, autism, facial angiofibromas or hypopigmented macule and other skin abnormalities, brain imaging examination noted intracranial nodular calcification are highly suggestive of tuberous sclerosis complex. TSC1 and TSC2 gene analysis contribute to the diagnosis of this disease, genentic counseling and prenatal diagnosis.

  14. ACE I/D polymorphism in Indian patients with hypertrophic cardiomyopathy and dilated cardiomyopathy

    Rai, Taranjit Singh; Dhandapany, Perundurai Subramaniam; Ahluwalia, Tarun Veer Singh

    2008-01-01

    The study was carried to determine the association of angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism with the risk of hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and restrictive cardiomyopathy (RCM).......The study was carried to determine the association of angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism with the risk of hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and restrictive cardiomyopathy (RCM)....

  15. MODERN CLINICAL AND LABORATORY FEATURES OF ENTEROVIRAL MENINGITIS

    O. V. Usacheva

    2014-04-01

    Full Text Available Among numerous viral meningitises from 80% to 90% of cases are accounted for meningitis of enteroviral etiology according to the international data. Despite the favorable disease course, there are forms which are characterized by severe damage of CNS. In order to improve diagnostics of enteroviral meningitis in this article we have made a comparative analysis of clinical and laboratory parameters in 23 patients with enteroviral meningitis and 18 patients with serous meningitis of non-enteroviral etiology. Anamnesis data and the major clinical manifestations of the disease dynamics were analyzed. Particular attention is paid to the comparison of diagnoses, by which patients were sent to infectious hospital, the symptoms that occurred during patients’ admission into hospitals and their severity. The presence and severity of meningeal symptoms and the indices of cerebrospinal fluid in the patients of the comparison group were analyzed in detail. It is shown that enteroviruses are the important factor in the development of meningitis in the children of younger age. The clinical picture of enteroviral meningitis often develops gradually for 2-3 days and includes the typical syndromes: intoxication and meningeal ones. Every third patient with enterovirus infection has diarrhea and catarrhal symptoms, that’s why it is difficult to diagnose meningitis in its early stages, but it allows to assume enteroviral etiology of the disease. The meningitis of enteroviral etiology is characterized by multiple meningeal signs, while the non-enteroviral meningitis is characterized by dissociation with the prevalence of the of Kernig’s and Brudzinski’s symptoms. The analysis of the laboratory data showed that the enteroviral meningitis is characterized by low (over 50-100 cells "mixed" pleocytosis (the ratio of lymphocytes and neutrophils is about 1:1. These data can be used for differential diagnosis between enteroviral meningitis and serous meningitis of

  16. Clinical features of gout in a cohort of Italian patients

    M.A. Cimmino

    2011-06-01

    Full Text Available Objective: To assess the clinical characteristics of gout and its diagnostic approach in a group of Italian patients. Methods: In a retrospective analysis, we evaluated 72 consecutive gouty patients examined in the years 2000-2007.We recorded demographic data, family history, comorbidities and disease characteristics (seasonality of the attacks, joints affected, serum uric acid concentration, and treatment. Result: 63/72 (87.5% patients were men and 9 women, with mean age 61.9±13.7 years. 8/72 (11.1% patients reported a familial history of gout. The first attack occurred mainly in the months of June, July and December. The first metatarsophalangeal joint was affected in 59.7% of patients and the hand in 25%. Treatment changed over the follow- up period, with a decreased use of NSAIDs (p<0.0001 and an increased use of colchicine (p=0.015 and allopurinol (p<0.0001. In 9 (12.5% patients, joint aspiration was performed and monosodium urate crystals were found in synovial fluid or tophi. 42/72 (58.3% patients fulfilled a minimum of 6 clinical criteria of the American College of Rheumatology, necessary for gout diagnosis. 47/72 (65.3% patients, met the EULAR recommendations and had an 82% probability of being affected by gout. Conclusions: The diagnosis of gout is not always easy because of its changing clinical spectrum. Identification of MSU crystals in joint aspirates was obtained only in a minority of patients. In this setting the diagnosis with gout was often based on the observation of an acute intermittent monoarthritis involving mainly the first metatarsophlangeal joint, associated with hyperuricaemia and responsive to colchicine.

  17. The Retrospective Evaluation of Childhood Psoriasis Clinically and Demographic Features

    Ayşe Serap Karadağ

    2013-03-01

    Full Text Available Objective: This study was aimed to define the clinical and demographic findings of psoriasis in childhood. Methods: In this retrospective study, the data from 64 children with psoriasis admitted at the our dermatology clinic between January 2007 and January 2011 were included whose data were fully. Results: Of the patients, 37 (57.8% were boys and 27 (42.2% were girls. Mean age of the children was 10.08 ±3.98 years (3-16. In 10 (15% cases, a positive family history was detected. The most frequent localizations at onset were trunk (46.9%, scalp (28.1%, knee-elbow (10.9% and extremities (7.9%, respectively. The most commonly seen clinical types were plaque (68.8%, guttate (20.3%, palmoplantar (9.4%, pustular (1.6%, respectively. Nine children had nail involvement. Out of all patients, 21.9% had upper respiratory tract infections and 9.4% had emotional stres. Four cases were diagnosed with depression. Of the cases, two cases were on non-steroid anti-inflammatory medication, and 4 of them were on antibiotics. Systemic treatments were given to 21.9% of the cases besides topical treatments. Conclusion: The epidemiological studies of psoriasis during childhood period for different countries have been reported. In this study, the ratio shows differences when compared to those previous studies. There are few epidemiologic studies for Turkey. We believe that further epidemiological studies including large number of patients' groups will contribute the diagnosis and treatment of the disease.

  18. Triploid pregnancies: genetic and clinical features of 158 cases

    Jørgensen, Mette Warming; Niemann, I.; Rasmussen, AA

    2014-01-01

    OBJECTIVE: The purpose of this study was to analyze the correlation between the genetic constitution and the phenotype in triploid pregnancies. STUDY DESIGN: One hundred fifty-eight triploid pregnancies were identified in hospitals in Western Denmark from April 1986 to April 2010. Clinical data...... at ultrasound scanning, by macroscopic inspection of the evacuated tissue, at histology, or because of a high human chorionic gonadotropin in maternal serum level each predict the parental type PPM with a very high specificity. In contrast, the sensitivity of these observations was

  19. [Clinical features and prognosis of retinal lattice degeneration].

    Guo, X R

    1990-07-01

    110 cases (110 eyes) of retinal lattice degeneration were clinically observed and followed up for 3-8 years. Most lesions were located in the superotemporal quadrant, band-shaped, and parallel to the ora serrata. 80.9% of the lesions presented various degrees of pigmentation, 67.1% yellowish white spots, and 83.6% white lines. 32.9% of the eyes developed retinal holes. Most lattice degenerations were accompanied by vitreous degeneration and vitreoretinal traction. The disease progressed only slowly, though in a few cases it tended to expand.

  20. Clinical and CT imaging features of abdominal fat necrosis

    Zhao Jinkun; Bai Renju

    2013-01-01

    Fat necrosis is a common pathological change at abdominal cross-sectional imaging, and it may cause abdominal pain, mimic pathological change of acute abdomen, or be asymptomatic and accompany other pathophysiologic processes. Fat necrosis is actually the result of steatosis by metabolism or mechanical injury. Common processes that are present in fat necrosis include epiploic appendagitis, infarction of the greater omentum, pancreatitis, and fat necrosis related to trauma or ischemia. As a common fat disease, fat necrosis should be known by clinicians and radiologists. Main content of this text is the clinical symptoms and CT findings of belly fat necrosis and related diseases. (authors)

  1. Determination of multidirectional myocardial deformations in cats with hypertrophic cardiomyopathy by using two-dimensional speckle-tracking echocardiography.

    Suzuki, Ryohei; Mochizuki, Yohei; Yoshimatsu, Hiroki; Teshima, Takahiro; Matsumoto, Hirotaka; Koyama, Hidekazu

    2017-12-01

    Objectives Hypertrophic cardiomyopathy, a primary disorder of the myocardium, is the most common cardiac disease in cats. However, determination of myocardial deformation with two-dimensional speckle-tracking echocardiography in cats with various stages of hypertrophic cardiomyopathy has not yet been reported. This study was designed to measure quantitatively multidirectional myocardial deformations of cats with hypertrophic cardiomyopathy. Methods Thirty-two client-owned cats with hypertrophic cardiomyopathy and 14 healthy cats serving as controls were enrolled and underwent assessment of myocardial deformation (peak systolic strain and strain rate) in the longitudinal, radial and circumferential directions. Results Longitudinal and radial deformations were reduced in cats with hypertrophic cardiomyopathy, despite normal systolic function determined by conventional echocardiography. Cats with severely symptomatic hypertrophic cardiomyopathy also had lower peak systolic circumferential strain, in addition to longitudinal and radial strain. Conclusions and relevance Longitudinal and radial deformation may be helpful in the diagnosis of hypertrophic cardiomyopathy. Additionally, the lower circumferential deformation in cats with severe hypertrophic cardiomyopathy may contribute to clinical findings of decompensation, and seems to be related to severe cardiac clinical signs. Indices of multidirectional myocardial deformations by two-dimensional speckle-tracking echocardiography may be useful markers and help to distinguish between cats with hypertrophic cardiomyopathy and healthy cats. Additionally, they may provide more detailed assessment of contractile function in cats with hypertrophic cardiomyopathy.

  2. Stress fractures: pathophysiology, clinical presentation, imaging features, and treatment options.

    Matcuk, George R; Mahanty, Scott R; Skalski, Matthew R; Patel, Dakshesh B; White, Eric A; Gottsegen, Christopher J

    2016-08-01

    Stress fracture, in its most inclusive description, includes both fatigue and insufficiency fracture. Fatigue fractures, sometimes equated with the term "stress fractures," are most common in runners and other athletes and typically occur in the lower extremities. These fractures are the result of abnormal, cyclical loading on normal bone leading to local cortical resorption and fracture. Insufficiency fractures are common in elderly populations, secondary to osteoporosis, and are typically located in and around the pelvis. They are a result of normal or traumatic loading on abnormal bone. Subchondral insufficiency fractures of the hip or knee may cause acute pain that may present in the emergency setting. Medial tibial stress syndrome is a type of stress injury of the tibia related to activity and is a clinical syndrome encompassing a range of injuries from stress edema to frank-displaced fracture. Atypical subtrochanteric femoral fracture associated with long-term bisphosphonate therapy is also a recently discovered entity that needs early recognition to prevent progression to a complete fracture. Imaging recommendations for evaluation of stress fractures include initial plain radiographs followed, if necessary, by magnetic resonance imaging (MRI), which is preferred over computed tomography (CT) and bone scintigraphy. Radiographs are the first-line modality and may reveal linear sclerosis and periosteal reaction prior to the development of a frank fracture. MRI is highly sensitive with findings ranging from periosteal edema to bone marrow and intracortical signal abnormality. Additionally, a brief description of relevant clinical management of stress fractures is included.

  3. Vulvovaginitis: clinical features, aetiology, and microbiology of the genital tract

    Jaquiery, A; Stylianopoulos, A; Hogg, G; Grover, S

    1999-01-01

    AIM—To clarify the contribution of clinical and environmental factors and infection to the aetiology of vulvovaginitis in premenarchal girls, and to determine clinical indicators of an infectious cause.
DESIGN—It was necessary first to define normal vaginal flora. Cases were 50 premenarchal girls > 2 years old with symptoms of vulvovaginitis; 50 controls were recruited from girls in the same age group undergoing minor or elective surgery.
RESULTS—Interview questionnaire showed no difference between cases and controls in regards to hygiene practices, exposure to specific irritants, or history of possible sexual abuse. Normal vaginal flora was similar to that described in previous studies, with the exception of organisms likely to be associated with sexual activity. 80% of cases had no evidence of an infectious cause. In the 10 cases in whom an infectious cause was found, there was significantly more visible discharge and distinct redness of the genital area on examination compared with other cases.
CONCLUSIONS— The findings suggest that vulvovaginitis in this age group is not usually infectious or necessarily related to poor hygiene, specific irritants or sexual abuse, although any of these can present with genital irritation. The possibility of sexual abuse should always be considered when a child presents with genital symptoms, but our data indicate it is not a common contributing factor. Infection is generally associated with vaginal discharge and moderate or severe inflammation.

 PMID:10373139

  4. Identifying developmental features in students' clinical reasoning to inform teaching.

    Pinnock, Ralph; Anakin, Megan; Lawrence, Julie; Chignell, Helen; Wilkinson, Tim

    2018-04-27

    There is increasing evidence that students at different levels of training may benefit from different methods of learning clinical reasoning. Two of the common methods of teaching are the "whole - case" format and the "serial cue" approach. There is little empirical evidence to guide teachers as to which method to use and when to introduce them. We observed 23 students from different stages of training to examine how they were taking a history and how they were thinking whilst doing this. Each student interviewed a simulated patient who presented with a straightforward and a complex presentation. We inferred how students were reasoning from how they took a history and how they described their thinking while doing this. Early in their training students can only take a generic history. Only later in training are they able to take a focused history, remember the information they have gathered, use it to seek further specific information, compare and contrast possibilities and analyze their data as they are collecting it. Early in their training students are unable to analyze data during history taking. When they have started developing illness scripts, they are able to benefit from the "serial cue" approach of teaching clinical reasoning.

  5. Characteristic adaptations of the extracellular matrix in dilated cardiomyopathy

    Louzao-Martinez, Laura; Vink, Aryan; Harakalova, Magdalena; Asselbergs, Folkert W; Verhaar, Marianne C; Cheng, Caroline

    2016-01-01

    Dilated cardiomyopathy (DCM) is a relatively common heart muscle disease characterized by the dilation and thinning of the left ventricle accompanied with left ventricular systolic dysfunction. Myocardial fibrosis is a major feature in DCM and therefore it is inevitable that corresponding

  6. Cystic synovial sarcomas: imaging features with clinical and histopathologic correlation

    Nakanishi, Hirofumi; Araki, Nobuhito [Department of Orthopedic Surgery, Osaka Medical Center for Cancer and Cardiovascular Diseases, 1-3-3, Nakamichi, Higashinari-Ku, 537-8511, Osaka (Japan); Sawai, Yuka [Department of Radiology, Osaka Medical Center for Cancer and Cardiovascular Diseases, Osaka (Japan); Kudawara, Ikuo [Department of Orthopedic Surgery, Osaka National Hospital, Osaka (Japan); Mano, Masayuki; Ishiguro, Shingo [Department of Pathology, Osaka Medical Center for Cancer and Cardiovascular Diseases, Osaka (Japan); Ueda, Takafumi; Yoshikawa, Hideki [Department of Orthopedic Surgery, Osaka University Graduate School of Medicine, Suita, Osaka (Japan)

    2003-12-01

    To characterize the radiological and clinicopathologic features of cystic synovial sarcoma. Seven patients with primary cystic synovial sarcoma were evaluated. Computed tomography (CT) and magnetic resonance (MR) imaging were undertaken at the first presentation. The diagnosis of synovial sarcoma was made on the basis of histological examinations followed by molecular analysis. Radiological and clinicopathologic findings were reviewed. CT showed well-defined soft tissue mass without cortical bone erosion and invasion. Calcification was seen at the periphery of the mass in three cases. T2-weighted MR images showed multilocular inhomogeneous intensity mass in all cases, five of which showed fluid-fluid levels. On gross appearance, old and/or fresh hematomas were detected in six cases. In the one remaining case, microscopic hemorrhage in the cystic lumen was proven. Four cases had poorly differentiated areas. In five cases prominent hemangiopericytomatous vasculature was observed. Histologic grade was intermediate in one tumor and high in six. One case had a history of misdiagnosis for tarsal tunnel syndrome, one for lymphadenopathy, two for sciatica and two for hematoma. All cystic synovial sarcomas demonstrated multilocularity with well-circumscribed walls and internal septae. Synovial sarcoma should be taken into consideration in patients with deeply situated multicystic mass with triple signal intensity on T2-weighted MR imaging. (orig.)

  7. Cystic synovial sarcomas: imaging features with clinical and histopathologic correlation

    Nakanishi, Hirofumi; Araki, Nobuhito; Sawai, Yuka; Kudawara, Ikuo; Mano, Masayuki; Ishiguro, Shingo; Ueda, Takafumi; Yoshikawa, Hideki

    2003-01-01

    To characterize the radiological and clinicopathologic features of cystic synovial sarcoma. Seven patients with primary cystic synovial sarcoma were evaluated. Computed tomography (CT) and magnetic resonance (MR) imaging were undertaken at the first presentation. The diagnosis of synovial sarcoma was made on the basis of histological examinations followed by molecular analysis. Radiological and clinicopathologic findings were reviewed. CT showed well-defined soft tissue mass without cortical bone erosion and invasion. Calcification was seen at the periphery of the mass in three cases. T2-weighted MR images showed multilocular inhomogeneous intensity mass in all cases, five of which showed fluid-fluid levels. On gross appearance, old and/or fresh hematomas were detected in six cases. In the one remaining case, microscopic hemorrhage in the cystic lumen was proven. Four cases had poorly differentiated areas. In five cases prominent hemangiopericytomatous vasculature was observed. Histologic grade was intermediate in one tumor and high in six. One case had a history of misdiagnosis for tarsal tunnel syndrome, one for lymphadenopathy, two for sciatica and two for hematoma. All cystic synovial sarcomas demonstrated multilocularity with well-circumscribed walls and internal septae. Synovial sarcoma should be taken into consideration in patients with deeply situated multicystic mass with triple signal intensity on T2-weighted MR imaging. (orig.)

  8. Fabry Disease in Families With Hypertrophic Cardiomyopathy

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J

    2017-01-01

    BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B...... asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations...

  9. Review of clinical and laboratory features of human Brucellosis

    Mantur B

    2007-01-01

    Full Text Available Infection with Brucella spp. continues to pose a human health risk globally despite strides in eradicating the disease from domestic animals. Brucellosis has been an emerging disease since the discovery of Brucella melitensis by Sir David Bruce in 1887. Although many countries have eradicated B. abortus from cattle, in some areas B. melitensis and B. suis have emerged as causes of this infection in cattle, leading to human infections. Currently B. melitensis remains the principal cause of human brucellosis worldwide including India. The recent isolation of distinct strains of Brucella from marine mammals as well as humans is an indicator of an emerging zoonotic disease. Brucellosis in endemic and non-endemic regions remains a diagnostic puzzle due to misleading non-specific manifestations and increasing unusual presentations. Fewer than 10% of human cases of brucellosis may be clinically recognized and treated or reported. Routine serological surveillance is not practiced even in Brucella - endemic countries and we suggest that this should be a part of laboratory testing coupled with a high index of clinical suspicion to improve the level of case detection. The screening of family members of index cases of acute brucellosis in an endemic area should be undertaken to pick up additional unrecognised cases. Rapid and reliable, sensitive and specific, easy to perform and automated detection systems for Brucella spp. are urgently needed to allow early diagnosis and adequate antibiotic therapy in time to decrease morbidity / mortality. The history of travel to endemic countries along with exposure to animals and exotic foods are usually critical to making the clinical diagnosis. Laboratory testing is indispensable for diagnosis. Therefore alertness of clinician and close collaboration with microbiologist are essential even in endemic areas to correctly diagnose and treat this protean human infection. Existing treatment options, largely based on

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

    Rise IV

    2016-05-01

    Full Text Available Ida Vikan Rise,1 Josep Maria Haro,2–4 Bjørn Gjervan,5,61Department of Psychiatry, Sorlandet Hospital, Arendal, Norway; 2Research Unit, Parc Sanitari Sant Joan de Déu, Sant Boi de Llobregat, Spain; 3Faculty of Medicine, Universitat de Barcelona, Barcelona, Spain; 4CIBERSAM (Centro de Investigación Biomédica En Red de Salud Mental, Madrid, Spain; 5Department of Psychiatry, North-Trondelag Hospital Trust, Levanger, Norway; 6Department of Medicine, Institute of Neuromedicine, Norwegian University of Science and Technology, Trondheim, NorwayIntroduction: 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

  11. Child and Adolescent Clinical Features Preceding Adult Suicide Attempts.

    Serra, Giulia; Koukopoulos, Athanasios; De Chiara, Lavinia; Napoletano, Flavia; Koukopoulos, Alexia; Sani, Gabriele; Faedda, Gianni L; Girardi, Paolo; Reginaldi, Daniela; Baldessarini, Ross J

    2017-07-03

    The objective of this study was to identify the predictive value of juvenile factors for adult suicidal behavior. We reviewed clinical records to compare factors identified in childhood and adolescence between adult suicidal versus nonsuicidal major affective disorder subjects. Suicide attempts occurred in 23.1% of subjects. Age-at-first-symptom was 14.2 vs. 20.2 years among suicidal versus nonsuicidal subjects (p suicidal versus non-suicidal subjects by multivariate analysis were: depressive symptoms, hyper-emotionality, younger-at-first-affective-episode, family suicide history, childhood mood-swings, and adolescence low self-esteem. Presence of one factor yielded a Bayesian sensitivity of 64%, specificity of 50%, and negative predictive power of 86%. Several juvenile factors were associated with adult suicidal behavior; their absence was strongly associated with a lack of adult suicidal behavior.

  12. Affective instability as a clinical feature of avoidant personality disorder.

    Snir, Avigal; Bar-Kalifa, Eran; Berenson, Kathy R; Downey, Geraldine; Rafaeli, Eshkol

    2017-10-01

    The current study's main goal was to examine whether affective instability is elevated among individuals suffering from avoidant personality disorder (APD) by comparing it to the affective instability found among individuals suffering from borderline personality disorder (BPD) as well that found among healthy controls. Adults (N = 152, aged 18-65 years) with BPD, APD, or no psychopathology participated in a 3-week computerized diary study. We examined temporal instability in negative affect using experience-sampling methods. Both within and between days, individuals with APD showed greater affective instability compared to the healthy control individuals, although less affective instability compared to individuals with BPD. The findings are in line with affective instability (or emotional lability) as a key dimension relevant across personality disorders. Additionally, they emphasize the need for research and clinical attention to affective characteristics (alongside the more readily recognized interpersonal characteristics) of APD. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  13. Technological features and clinical feasibility of megavoltage CT scanning

    Nakagawa, Keiichi; Aoki, Yukimasa; Akanuma, Atsuo; Sakata, Kouichi; Karasawa, Katsuyuki; Terahara, Atsurou; Onogi, Yuzou; Hasezawa, Kenji; Sasaki, Yasuhito

    1992-01-01

    Megavoltage CT scanning using 4-MV and 6-MV radiotherapy beams has been developed and applied to verify errors in patient positioning. A detector system composed of 120 pairs of cadmium tungstate scintillators with photodiodes is mounted to the treatment unit at a distance of 160 cm from the beam source. Image reconstruction is performed with a standard filtered back-projection algorithm. Scanning time and reconstruction time for a slice is approximately 35 s and 60 s respectively. Although spatial resolution is as large as 4 mm, it has sufficient image quality to be applied for treatment planning and verification. The delivered dose with 4 MV and 6 MV is about 1.4 cGy and 2.8 cGy respectively. When a megavoltage CT image is taken in treatment position, the positioning errors are easily detected by comparing it with diagnostic CT sections for treatment planning. Several clinical examples are presented. (orig.)

  14. X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.

    Fullwood, P; Jones, J; Bundey, S; Dudgeon, J; Fielder, A R; Kilpatrick, M W

    1993-03-01

    A four generation family in which familial exudative vitreoretinopathy is inherited as an X linked condition is described. Essentially the condition is one of abnormal vascularisation and signs at birth are those of a retinopathy superficially resembling retinopathy of prematurity, retinal folds, or, in advanced cases, enophthalmos or even phthisis. Prognosis depends on the progression of the retinal changes. The family members, including seven affected males and five obligate carrier females, have been types for 20 DNA markers, and linkage analysis suggests a gene locus either at Xq21.3 or at Xp11. As the latter region includes the locus for the gene for Norrie disease, it is possible that this and X linked vitreoretinopathy are allelic. We can further speculate that the differences in severity of the clinical manifestations are dependent only upon the timing of the insult.

  15. Analysis on early clinical features of behavioral variant frontotemporal dementia

    Guan-jun LI

    2017-11-01

    Full Text Available Background Although the early behavioral symptoms of behavioral variant frontotemporal dementia (bvFTD are prominent, early diagnosis for bvFTD is difficult due to confusion with other mental disorders, and lack of sensitivity and specificity of diagnostic criteria, etc. In this paper, we summarized the important reviews in recent years and analyzed the clinical characteristics of bvFTD patients to improve the detection of early symptoms in bvFTD. Methods Twenty-three possible or probable bvFTD patients were diagnosed according to International Behavioral Variant Frontotemporal Dementia Criteria Consortium (FTDC. Self-designed questionnaires designed by Shanghai Mental Health Center were used to collect sociodemographic data and general information of patients. Their clinical characteristics were summarized, including abnormal behaviors, cognitive impairment, psychotic symptoms and other symptoms. Mini-Mental State Examination (MMSE, Activities of Daily Living (ADL and Clinical Dementia Rating Scale (CDR were used to make neuropsychological tests and compare with similar overseas studies (control group, N = 66. Results Eleven male patients and 12 female patients were included in our study. Compared with control group, the average age of onset [(50.83 ± 11.55 years vs. (57.00 ± 10.00 years; t = 3.863, P = 0.000] and average age of diagnosis [(53.22 ± 11.55 years vs. (61.00 ± 9.00 years; t = 13.423, P = 0.000] of bvFTD patients were smaller. The study showed that bvFTD patients had more apathy or indolence [95.65% (22/23 vs. 65.15% (43/66; χ2 = 8.057, P = 0.005], loss of sympathy or empathy [95.65% (22/23 vs. 33.33% (22/66; χ2 = 26.499, P = 0.000], while patients in control group showed more derepression behavior [98.48% (65/66 vs. 52.17% (12/23; χ2 = 27.514, P = 0.000] and continuous, stiff, obsessive and/or ritualized behavior [95.45% (63/66 vs. 30.43% (7/23; adjusted χ2 = 39.159, P = 0.000]. For cognitive impairment, bvFTD patients

  16. Severe scrub typhus infection: Clinical features, diagnostic challenges and management

    Peter, John Victor; Sudarsan, Thomas I; Prakash, John Anthony J; Varghese, George M

    2015-01-01

    Scrub typhus infection is an important cause of acute undifferentiated fever in South East Asia. The clinical picture is characterized by sudden onset fever with chills and non-specific symptoms that include headache, myalgia, sweating and vomiting. The presence of an eschar, in about half the patients with proven scrub typhus infection and usually seen in the axilla, groin or inguinal region, is characteristic of scrub typhus. Common laboratory findings are elevated liver transaminases, thrombocytopenia and leukocytosis. About a third of patients admitted to hospital with scrub typhus infection have evidence of organ dysfunction that may include respiratory failure, circulatory shock, mild renal or hepatic dysfunction, central nervous system involvement or hematological abnormalities. Since the symptoms and signs are non-specific and resemble other tropical infections like malaria, enteric fever, dengue or leptospirosis, appropriate laboratory tests are necessary to confirm diagnosis. Serological assays are the mainstay of diagnosis as they are easy to perform; the reference test is the indirect immunofluorescence assay (IFA) for the detection of IgM antibodies. However in clinical practice, the enzyme-linked immuno-sorbent assay is done due to the ease of performing this test and a good sensitivity and sensitivity when compared with the IFA. Paired samples, obtained at least two weeks apart, demonstrating a ≥ 4 fold rise in titre, is necessary for confirmation of serologic diagnosis. The mainstay of treatment is the tetracycline group of antibiotics or chloramphenicol although macrolides are used alternatively. In mild cases, recovery is complete. In severe cases with multi-organ failure, mortality may be as high as 24%. PMID:26261776

  17. CLINICAL FEATURES OF CHILDREN WITH DIPHTHERIA ON SOETOMO HOSPITAL

    Dwiyanti Puspitasari

    2017-04-01

    Full Text Available Introduction: Diphtheria is an important disease in children that could lead to fatal disease. East Java Province was declared to have Diphtheria outbreak in 2011 with increasing morbidity and mortality, including on Soetomo Hospital. Our paper aimed to describe the profi le of diphtheria cases in children admitted at dr Sutomo Hospital. Method: This descriptive study reviewed all medical records of diphtheritic patients admitted to Dr. Soetomo Hospital, January 2004–December 2010, of concerns were clinical presentations, age, sex, immunizations status, complications, and outcomes. Result: From 148 diphtheria cases, 22.3% were bacteriologically proven; 53.4% were male with sex ratio 1.1:1. The age proportion of ≤ 5 years old, 5- ≤ 10 years old, and > 10 years old were 61.5%, 31.8%, and 6.7%. Fever occurred in 99% cases, sore throat, stridor and bullneck occurred respectively in 62.2%, 39.9%, and 29.7% cases. There were 56.8% severe and 41.9% moderate diphtheria. Subjects were immunized in 84%, but none of them have adequate immunization. Myocarditis, being one of the commonest complications occurred in 11.4% cases and tracheostomy was the second (4.0%. All of the death cases (7.9% were unvaccinated and in severe form. Discussion: The mostly prevalent clinical manifestations in diphtheria children were fever and sore throat. Half of the cases came with severe diphtheria and most cases were inadequately vaccinated. Death occurred in the unvaccinated and severe form.

  18. Perigastric appendagitis: CT and clinical features in eight patients

    Justaniah, A.I.; Scholz, F.J.; Katz, D.S.; Scheirey, C.D.

    2014-01-01

    Aim: To describe perigastric appendagitis (PA) on CT as a new and distinct clinical entity to enable recognition and prevent additional unnecessary investigation or intervention. Materials and methods: Institutional review board approval was obtained and informed consent was waived. Retrospective review of the clinical data and CT findings in eight patients with PA encountered over 10 years at one institution was performed. The English literature was reviewed and summarized. Two experienced abdominal radiologists reviewed the CT images by consensus. Results: Seven of eight patients had moderate to severe epigastric pain for 1–7 days. All eight patients (four men, four women; mean age 44 years, range 33–81 years) had no fever or leukocytosis. All underwent abdominal CT which showed ovoid fat inflammation along the course of the perigastric ligaments (gastrohepatic, gastrosplenic, and falciform). Two had gastric wall thickening. Although the inflammation was correctly described, the specific diagnosis was not made on initial interpretation in five patients. Subsequently, they underwent further diagnostic testing [an upper gastrointestinal examination and hepatobiliary iminodiacetic acid (HIDA) cholescintigraphy, an upper endoscopy and MRI examination, HIDA cholescintigraphy, another CT, and an MRI examination, respectively]. The HIDA cholescintigraphy, upper GI examination, and upper endoscopy examinations were normal. No repeated examination was performed on the other three patients. Pain resolved spontaneously in all within two days. Conclusion: Perigastric appendagitis can present with an acute abdomen, which is safely managed conservatively if diagnosed correctly. Radiologists should be aware of the entity to avoid unnecessary intervention, and recognize the CT findings of ovoid fat inflammation in the distribution of the perigastric ligaments. - Highlights: • Normal perigastric ligaments can have fatty appendages. • Torsion of these appendages causes

  19. Lupus Nephritis in Asia: Clinical Features and Management.

    Yap, Desmond Y H; Chan, Tak Mao

    2015-09-01

    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. 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. Treatment responses and clinical

  20. Clinical features and nail clippings in 52 children with psoriasis.

    Uber, Marjorie; Carvalho, Vânia O; Abagge, Kerstin T; Robl Imoto, Renata; Werner, Betina

    2018-03-01

    Nail clipping, the act of cutting the distal portion of a nail for microscopic analysis, can complement the diagnosis of skin diseases with nail involvement, such as psoriasis. This study aimed to describe histopathologic findings on 81 nails from 52 children and adolescents with skin psoriasis and to determine whether these changes correlated with the severity of skin and nail involvement. Children with psoriasis were enrolled in this cross-sectional study to obtain Psoriasis Area and Severity Index (PASI) and Nail Psoriasis Severity Index (NAPSI) scores. The most altered nails were processed using periodic acid-Schiff with diastase staining. Fifty-two patients with a median age of 10.5 years were included. The median Nail Psoriasis Severity Index score of the 20 nails from these patients was 17 (range 3-80). The most common findings were pitting (94.2%), leukonychia (73.0%), and longitudinal ridges (63.5%). Eighty-one nail fragments were collected by clipping. Neutrophils were found in 6 samples (7.6%) and serous lakes in 15 (19%). Median nail plate thickness was 0.3 mm (range 0.1-0.63 mm). Patients whose nails had neutrophils had a higher median PASI score (6.1 vs 2.0, P = .03). Patients whose nails had serous lakes had higher median PASI (5.3 vs 1.9, P = .008) and NAPSI (median 45.0 vs 18.0, P = .006) scores. There seems to be a correlation between some microscopic nail features in children with psoriasis and their PASI and NAPSI scores, so nail clippings from children with suspected psoriasis may help with diagnosis, especially in the presence of neutrophils, and in excluding onychomycosis. © 2018 Wiley Periodicals, Inc.

  1. Clinical features, diagnosis and treatment of spinal injuries in children

    Sorokovikov V.A.

    2018-04-01

    Full Text Available Spine injuries in children are of great social significance. Currently, the incidence of spinal cord injuries in children has increased; this is due to the use of modern imaging devices (digital X-ray examination, CT, MRI at the prehospital and hospital stages. For children, compression fractures of the vertebral body, which are associated with serious injuries to the musculoskeletal system, are more characteristic. Compression fractures of vertebral bodies (1–2 % with improper treatment can lead to aseptic necrosis of the vertebra, kyphoscoliosis and other pathological conditions, which often results in disability. When X-ray diagnosis of fractures of transverse and spinous processes, one should consider additional ossification points, which can be mistaken for fractures. Also, differential diagnosis should take into account congenital wedge vertebrae and other abnormalities of vertebral development, which can be mistaken for fractures. The publication presents the results of a comprehensive examination and treatment of 85 children with spine trauma. The age of the examined was from 3 months to 16 years. In 20 cases, we detected compression fractures of the spine at different levels (cervical – 1, upper-thoracic – 4, medium-thoracic – 10, lower-thoracic – 2, lumbar – 3. In 25 cases, a rotational subluxation of the C I vertebra was diagnosed, in 3 – a traumatic rupture of the intervertebral disc, in 29 – a fracture of the coccyx. Complicated injuries of the spine accompanied by lesions of the spinal cord and roots were noted in 7 patients. Given the anatomical and physiological features of spine injuries in children, conservative methods of treatment were predominantly used.

  2. Clinical Features of the Ophthalmic Status in Pregnant Women

    V. N. Trubilin

    2018-01-01

    Full Text Available Ophthalmologist consultation has an important role in the examination of pregnant women. In some cases, his conclusion can play a decisive role in choice of delivery method. Obstetricians-gynecologists rely on ophthalmologist opinion for determining the severity of preeclampsia; it affects the treatment tactics and the life of mother and child. Examination of a pregnant woman has a number of characteristics, with regard to them, 3 groups of patients, which can be identified: the first group — Physiological pregnancywithout ophthalmological pathology. The second group: Physiological pregnancy with eye pathology in the anamnesis: myopia, peripheral choriovitreoretinal dystrophy; retinal detachment, vitreous body, vascular membrane, etc. Third group — Pathologically flowing pregnancy with pathology resulting from pregnancy: pre-eclampsia, anemia, diabetes and others pregnant. In physiological pregnancy without ophthalmological pathology, the most common physiological changes are increased pigmentation around the eyes, ptosis, a decrease of conjunctival capillaries, changes of cornea sensitivity and thickness, and, consequently, a change in refraction with a myopic shift, a decrease of tolerance to contact lenses, a decrease intraocular pressure, hemeralopia. It is necessary to differentiate the physiological feature of pregnancy, which include, in particular, the shift of refraction to the myopia, from pathological manifestations such as retinal angiopathy, macular edema, central serous chorioretinopathy and others. An important aspect is the  identification of potentially dangerous conditions of laser retina coagulation no later than 34 weeks of gestation with considering thepossibility of rheumatogenic retinal detachment and dystrophic changes in the delivery. This procedure can allow avoiding operativedelivery in the second group of patients. Timely detection of angiospasm on fundus in patients with pre-eclampsia from the third

  3. Clinical Features and Causes of Endogenous Hyperinsulinemic Hypoglycemia in Korea

    Chang-Yun Woo

    2015-04-01

    Full Text Available BackgroundEndogenous hyperinsulinemic hypoglycemia (EHH is characterized by an inappropriately high plasma insulin level, despite a low plasma glucose level. Most of the EHH cases are caused by insulinoma, whereas nesidioblastosis and insulin autoimmune syndrome (IAS are relatively rare.MethodsTo evaluate the relative frequencies of various causes of EHH in Korea, we retrospectively analyzed 84 patients who were diagnosed with EHH from 1998 to 2012 in a university hospital.ResultsAmong the 84 EHH patients, 74 patients (88%, five (6%, and five (6% were diagnosed with insulinoma, nesidioblastosis or IAS, respectively. The most common clinical manifestation of EHH was neuroglycopenic symptoms. Symptom duration before diagnosis was 14.5 months (range, 1 to 120 months for insulinoma, 1.0 months (range, 6 days to 7 months for nesidioblastosis, and 2.0 months (range, 1 to 12 months for IAS. One patient, who was diagnosed with nesidioblastosis in 2006, underwent distal pancreatectomy but was later determined to be positive for insulin autoantibodies. Except for one patient who was diagnosed in 2007, the remaining three patients with nesidioblastosis demonstrated severe hyperinsulinemia (157 to 2,719 µIU/mL, which suggests that these patients might have had IAS, rather than nesidioblastosis.ConclusionThe results of this study suggest that the prevalence of IAS may be higher in Korea than previously thought. Therefore, measurement of insulin autoantibody levels is warranted for EHH patients, especially in patients with very high plasma insulin levels.

  4. Czech mass methanol outbreak 2012: epidemiology, challenges and clinical features.

    Zakharov, Sergey; Pelclova, Daniela; Urban, Pavel; Navratil, Tomas; Diblik, Pavel; Kuthan, Pavel; Hubacek, Jaroslav A; Miovsky, Michal; Klempir, Jiri; Vaneckova, Manuela; Seidl, Zdenek; Pilin, Alexander; Fenclova, Zdenka; Petrik, Vit; Kotikova, Katerina; Nurieva, Olga; Ridzon, Petr; Rulisek, Jan; Komarc, Martin; Hovda, Knut Erik

    2014-12-01

    Methanol poisonings occur frequently globally, but reports of larger outbreaks where complete clinical and laboratory data are reported remain scarce. The objective of the present study was to report the data from the mass methanol poisoning in the Czech Republic in 2012 addressing the general epidemiology, treatment, and outcomes, and to present a protocol for the use of fomepizole ensuring that the antidote was provided to the most severely poisoned patients in the critical phase. A combined prospective and retrospective case series study of 121 patients with confirmed methanol poisoning. From a total of 121 intoxicated subjects, 20 died outside the hospital and 101 were hospitalized. Among them, 60 survived without, and 20 with visual/CNS sequelae, whereas 21 patients died. The total and hospital mortality rates were 34% and 21%, respectively. Multivariate regression analysis found pH 0.05). Severity of metabolic acidosis, state of consciousness, and serum ethanol on admission were the only significant parameters associated with mortality. The type of dialysis or antidote did not appear to affect mortality. Recommendations that were issued for hospital triage of fomepizole administration allowed conservation of valuable antidote in this massive poisoning outbreak for those patients most in need.

  5. Toxocara optic neuropathy: clinical features and ocular findings

    Choi, Kwang-Dong; Choi, Jae-Hwan; Choi, Seo-Young; Jung, Jae Ho

    2018-01-01

    We evaluated thirteen eyes of twelve patients diagnosed clinically and serologically with Toxocara optic neuropathy. Eleven patients had unilateral involvement and one patient had bilateral optic neuropathy. Eight patients (66.7%) had a possible infection source to Toxocara. Six patients (50%) had painless acute optic neuropathy. Ten eyes had asymmetric, sectorial optic disc edema with peripapillary infiltration and three eyes had diffuse optic disc edema. Eosinophilia was noted in five patients (41.7%) and optic nerve enhancement was observed in eight of eleven eyes (72.7%) with available orbit magnetic resonance imaging (MRI). Mean visual acuity significantly improved following treatment [mean logarithmic of the minimum angle of resolution (logMAR) 0.94±0.56 at baseline and 0.47±0.59 at the final (P=0.02)]. Asymmetric optic disc edema with a peripapillary lesion and a history of raw meat ingestion were important clues for diagnosing Toxocara optic neuropathy. Additionally, Toxocara IgG enzyme-linked immunosorbent assay (ELISA) test and evaluating eosinophil may be helpful for diagnosis. PMID:29600190

  6. Toxocara optic neuropathy: clinical features and ocular findings.

    Choi, Kwang-Dong; Choi, Jae-Hwan; Choi, Seo-Young; Jung, Jae Ho

    2018-01-01

    We evaluated thirteen eyes of twelve patients diagnosed clinically and serologically with Toxocara optic neuropathy. Eleven patients had unilateral involvement and one patient had bilateral optic neuropathy. Eight patients (66.7%) had a possible infection source to Toxocara. Six patients (50%) had painless acute optic neuropathy. Ten eyes had asymmetric, sectorial optic disc edema with peripapillary infiltration and three eyes had diffuse optic disc edema. Eosinophilia was noted in five patients (41.7%) and optic nerve enhancement was observed in eight of eleven eyes (72.7%) with available orbit magnetic resonance imaging (MRI). Mean visual acuity significantly improved following treatment [mean logarithmic of the minimum angle of resolution (logMAR) 0.94±0.56 at baseline and 0.47±0.59 at the final ( P =0.02)]. Asymmetric optic disc edema with a peripapillary lesion and a history of raw meat ingestion were important clues for diagnosing Toxocara optic neuropathy. Additionally, Toxocara IgG enzyme-linked immunosorbent assay (ELISA) test and evaluating eosinophil may be helpful for diagnosis.

  7. Traumatic optic neuropathy—Clinical features and management issues

    Yu-Wai-Man, Patrick

    2015-01-01

    Traumatic optic neuropathy (TON) is an uncommon cause of visual loss following blunt or penetrating head trauma, but the consequences can be devastating, especially in cases with bilateral optic nerve involvement. Although the majority of patients are young adult males, about 20% of cases occur during childhood. A diagnosis of TON is usually straightforward based on the clinical history and examination findings indicative of an optic neuropathy. However, the assessment can be difficult when the patient's mental status is impaired owing to severe trauma. TON frequently results in profound loss of central vision, and the final visual outcome is largely dictated by the patient's baseline visual acuities. Other poor prognostic factors include loss of consciousness, no improvement in vision after 48 hours, the absence of visual evoked responses, and evidence of optic canal fractures on neuroimaging. The management of TON remains controversial. Some clinicians favor observation alone, whereas others opt to intervene with systemic steroids, surgical decompression of the optic canal, or both. The evidence base for these various treatment options is weak, and the routine use of high-dose steroids or surgery in TON is not without any attendant risks. There is a relatively high rate of spontaneous visual recovery among patients managed conservatively, and the possible adverse effects of intervention therefore need to be even more carefully considered in the balance. PMID:26052483

  8. Lymphocytic Panhypophysitis: Its Clinical Features in Japanese Cases

    Yoshiharu Wada

    2011-01-01

    Full Text Available Lymphocytic hypophysitis is divided into three forms according to the involved tissues, lymphocytic adenohypophysitis, lymphocytic infundibulo-neurohypophysitis, and lymphocytic panhypophysitis (LPH. The term LPH was first proposed by us in 1995, although its entity and pathogenesis still remain controversial. Here we report five cases of LPH, who visited our clinics during 1994 to 2009. All cases were female of 20 to 77 years of age, and one case was associated with pregnancy. They presented with polyuria (n = 4, headache (n = 3, general malaise, polydipsia (n = 2, blunted vision, diplopia, amenorrhea or appetite loss (n = 1. Magnetic resonance imaging showed the pituitary swelling, the thickened stalk, the loss of the T1 hyperintense neurohypophysis (n = 4, or the atrophic pituitary (n = 1. Endocrinological examinations revealed deficiencies of TSH, ADH in all cases, GH, ACTH in three cases, LH, PRL in two cases, and FSH in one case, respectively. The severity of ADH deficiency varied among the cases. Anti-pituitary antibody was not detected in the cases examined. The biopsy of the pituitary lesions was performed except for one case, all of which revealed the diffuse lymphocytic infiltration. These results suggest that LPH is characterized by the female predominance, the atypical patterns of anterior pituitary hormone deficiencies and the variable degrees of diabetes insipidus in Japanese.

  9. Clinical and microbiological features of infective endocarditis caused by aerococci.

    Sunnerhagen, Torgny; Nilson, Bo; Olaison, Lars; Rasmussen, Magnus

    2016-04-01

    To define the clinical presentation of aerococcal infective endocarditis (IE) and the prevalence of synergy between penicillin and gentamicin on aerococcal isolates. Cases of aerococcal IE between 2002 and 2014 were identified in the Swedish Registry of Infective Endocarditis (SRIE). MALDI-TOF MS was used to confirm species determination. The medical records were analysed and compared to cases reported to the SRIE caused by other pathogens. Sixteen cases of aerococcal IE, fourteen with Aerococcus urinae and two with Aerococcus sanguinicola, were confirmed. Etest-based methods and time-kill experiments suggested synergy between penicillin and gentamicin towards seven of fifteen isolates. The patients with aerococcal IE were significantly older than those with streptococci or Staphylococcus aureus IE. Most of the patients had underlying urinary tract diseases or symptoms suggesting a urinary tract focus of the infection. Seven patients with aerococcal IE presented with severe sepsis but ICU treatment was needed only in one patient and there was no fatality. Valve exchange surgery was needed in four patients and embolization was seen in three patients. This report is the largest on aerococcal IE and suggests that the prognosis is relatively favourable despite the fact that the patients are old and have significant comorbidities.

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

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

    2014-01-01

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

  11. Familial epilepsy in Algeria: Clinical features and inheritance profiles.

    Chentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; Chaouch, Malika; Hamamy, Hanan; Antonarakis, Stylianos E

    2015-09-01

    To document the clinical characteristics and inheritance pattern of epilepsy in multigeneration Algerian families. Affected members from extended families with familial epilepsy were assessed at the University Hospital of Oran in Algeria. Available medical records, neurological examination, electroencephalography and imaging data were reviewed. The epilepsy type was classified according to the criteria of the International League Against Epilepsy and modes of inheritance were deduced from pedigree analysis. The study population included 40 probands; 23 male (57.5%) and 17 female subjects (42.5%). The mean age of seizure onset was 9.5 ± 6.1 years. According to seizure onset, 16 patients (40%) had focal seizures and 20 (50%) had generalized seizures. Seizure control was achieved for two patients (5%) for 10 years, while 28 (70%) were seizure-free for 3 months. Eleven patients (27.5%) had prior febrile seizures, 12 were diagnosed with psychiatric disorders and four families had syndromic epilepsy. The consanguinity rate among parents of affected was 50% with phenotypic concordance observed in 25 families (62.5%). Pedigree analysis suggested autosomal dominant (AD) inheritance with or without reduced penetrance in 18 families (45%), probable autosomal recessive (AR) inheritance in 14 families (35%), and an X-linked recessive inheritance in one family. This study reveals large Algerian families with multigenerational inheritance of epilepsy. Molecular testing such as exome sequencing would clarify the genetic basis of epilepsy in some of our families. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  12. Cardiac MRI in restrictive cardiomyopathy

    Gupta, A. [Department of Cardiovascular Radiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India); Singh Gulati, G., E-mail: gulatigurpreet@rediffmail.com [Department of Cardiovascular Radiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India); Seth, S. [Department of Cardiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India); Sharma, S. [Department of Cardiovascular Radiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India)

    2012-02-15

    Restrictive cardiomyopathy (RCM) is a specific group of heart muscle disorders characterized by inadequate ventricular relaxation during diastole. This leads to diastolic dysfunction with relative preservation of systolic function. Although short axis systolic function is usually preserved in RCM, the long axis systolic function may be severely impaired. Confirmation of diagnosis and information regarding aetiology, extent of myocardial damage, and response to treatment requires imaging. Importantly, differentiation from constrictive pericarditis (CCP) is needed, as only the latter is managed surgically. Echocardiography is the initial cardiac imaging technique but cannot reliably suggest a tissue diagnosis; although recent advances, especially tissue Doppler imaging and spectral tracking, have improved its ability to differentiate RCM from CCP. Cardiac catheterization is the reference standard, but is invasive, two-dimensional, and does not aid myocardial characterization. Cardiac magnetic resonance (CMR) is a versatile technique providing anatomical, morphological and functional information. In recent years, it has been shown to provide important information regarding disease mechanisms, and also been found useful to guide treatment, assess its outcome and predict patient prognosis. This review describes the CMR features of RCM, appearances in various diseases, its overall role in patient management, and how it compares with other imaging techniques.

  13. Prediction of renal mass aggressiveness using clinical and radiographic features: a global, multicentre prospective study

    Golan, Shay; Eggener, Scott; Subotic, Svetozar; Barret, Eric; Cormio, Luigi; Naito, Seiji; Tefekli, Ahmet; Pilar Laguna Pes, M.

    2016-01-01

    To examine the ability of preoperative clinical characteristics to predict histological features of renal masses (RMs). Data from consecutive patients with clinical stage I RMs treated surgically between 2010 and 2011 in the Clinical Research Office of Endourology Society (CROES) Renal Mass Registry

  14. Male breast disease: clinical, mammographic, and ultrasonographic features

    Guenhan-Bilgen, Isil; Bozkaya, Halil; Uestuen, Esin Emin; Memis, Aysenur

    2002-01-01

    Purpose: To describe and quantitate the radiological (mammographic and ultrasonographic) characteristics of male breast disease and to report the clinical and pathological findings. Materials and methods: Two-hundred-thirty-six male patients with different male breast diseases, diagnosed at our institution between January 1990 and July 2001, were retrospectively evaluated. The history, physical examination, mammographic and ultrasonographic findings were analyzed. Results: The spectrum of the disease in 236 male patients were gynecomastia (n=206), primary breast carcinoma (n=14), fat necrosis (n=5), lipoma (n=3), subareolar abscess (n=2), epidermal inclusion cyst (n=1), sebaceous cyst (n=1), hematoma (n=1), myeloma (n=1), and metastatic carcinoma (n=2). The distribution of patterns of gynecomastia were; 34% (n=71) nodular, 35% (n=73) dendritic and 31% (n=62) diffuse glandular. Gynecomastia was unilateral in 55% (n=113) and bilateral in 45% (n=93) of the patients. Male breast cancer presented as a mass without microcalcifications in 86% (n=12) and with microcalcifications in 7% (n=1) of patients. The mass was obscured by gynecomastia, partially in two, totally in one patient. The location of the mass was retroareolar in 46% (n=6) and eccentric to the nipple in 54% (n=7) of patients. On ultrasonography (US), the contours were well-circumscribed in 20% (n=3) and irregular in 80% (n=12) of the masses. Conclusion: Male breast has a wide spectrum of diseases, some of which have characteristic radiological appearances that can be correlated with their pathologic diagnosis. In the evaluation of the male breast, mammography and US are essential and should be performed along with physical examination

  15. Male breast disease: clinical, mammographic, and ultrasonographic features

    Guenhan-Bilgen, Isil E-mail: isilbilgen@hotmail.com; Bozkaya, Halil; Uestuen, Esin Emin; Memis, Aysenur

    2002-09-01

    Purpose: To describe and quantitate the radiological (mammographic and ultrasonographic) characteristics of male breast disease and to report the clinical and pathological findings. Materials and methods: Two-hundred-thirty-six male patients with different male breast diseases, diagnosed at our institution between January 1990 and July 2001, were retrospectively evaluated. The history, physical examination, mammographic and ultrasonographic findings were analyzed. Results: The spectrum of the disease in 236 male patients were gynecomastia (n=206), primary breast carcinoma (n=14), fat necrosis (n=5), lipoma (n=3), subareolar abscess (n=2), epidermal inclusion cyst (n=1), sebaceous cyst (n=1), hematoma (n=1), myeloma (n=1), and metastatic carcinoma (n=2). The distribution of patterns of gynecomastia were; 34% (n=71) nodular, 35% (n=73) dendritic and 31% (n=62) diffuse glandular. Gynecomastia was unilateral in 55% (n=113) and bilateral in 45% (n=93) of the patients. Male breast cancer presented as a mass without microcalcifications in 86% (n=12) and with microcalcifications in 7% (n=1) of patients. The mass was obscured by gynecomastia, partially in two, totally in one patient. The location of the mass was retroareolar in 46% (n=6) and eccentric to the nipple in 54% (n=7) of patients. On ultrasonography (US), the contours were well-circumscribed in 20% (n=3) and irregular in 80% (n=12) of the masses. Conclusion: Male breast has a wide spectrum of diseases, some of which have characteristic radiological appearances that can be correlated with their pathologic diagnosis. In the evaluation of the male breast, mammography and US are essential and should be performed along with physical examination.

  16. Clinical features and prognosis of paraquat poisoning in French Guiana

    Elenga, Narcisse; Merlin, Caroline; Le Guern, Rémi; Kom-Tchameni, Rémi; Ducrot, Yves-Marie; Pradier, Maxime; Ntab, Balthazar; Dinh-Van, Kim-Anh; Sobesky, Milko; Mathieu, Daniel; Dueymes, Jean-Marc; Egmann, Gérald; Kallel, Hatem; Mathieu-Nolf, Monique

    2018-01-01

    Abstract Paraquat is a nonselective contact herbicide of great toxicological importance, being associated with high mortality rates. Because of its high toxicity, the European Union withdrew it from its market in 2007. The aim of this study is to analyze all cases of paraquat poisoning hospitalized in French Guiana in order to assess their incidence and main characteristics. Medical records of all paraquat intoxicated patients hospitalized from 2008 until 2015 were reviewed in this retrospective study. Demographics, clinical presentation, and laboratory data were evaluated. A total of 62 cases were reviewed. The incidence of paraquat poisoning was 3.8/100,000 inhabitants/year. There were 44 adults and 18 children younger than 16 years of age. The median ages were 31 years [18.08–75.25] in adults and 13.4 years [0.75–15.08] in children, respectively. The median duration of hospitalization was longer in children [15.5 days (1–24)] than in adults [2 days (1–30)], P < .01. The majority of cases was due to self-poisoning (84%). Children had ingested a lower quantity of paraquat [48.8 mg/kg (10–571.1)] than adults [595.8 mg/kg (6–3636.4), P = .03]. There were more deaths among adults (65%) than in children (22%), P = .004. The severity and outcome was determined primarily by the amount of paraquat ingested. In conclusion, French Guiana has the largest cohort of paraquat poisonings in the European Union. The major factor affecting the prognosis of patients was the ingested amount of paraquat. The administration of activated charcoal or Pemba, in situ, within the first hour after ingestion of paraquat is essential. PMID:29642226

  17. Nail psoriasis: clinical features, pathogenesis, differential diagnoses, and management

    Haneke E

    2017-10-01

    Full Text Available Eckart Haneke1–4 1Department of Dermatology, Inselspital, University of Bern, Bern, Switzerland; 2Dermatology Practice Dermaticum, Freiburg, Germany; 3Centro de Dermatología Epidermis, Instituto CUF, Porto, Portugal; 4Department of Dermatology, University Hospital, Gent, Belgium Abstract: Psoriasis is the skin disease that most frequently affects the nails. Depending on the very nail structure involved, different clinical nail alterations can be observed. Irritation of the apical matrix results in psoriatic pits, mid-matrix involvement may cause leukonychia, whole matrix affection may lead to red lunulae or severe nail dystrophy, nail bed involvement may cause salmon spots, subungual hyperkeratosis, and splinter hemorrhages, and psoriasis of the distal nail bed and hyponychium causes onycholysis whereas that of the proximal nail fold causes psoriatic paronychia. The more extensive the involvement, the more severe is the nail destruction. Pustular psoriasis may be seen as yellow spots under the nail or, in case of acrodermatitis continua suppurativa, as an insidious progressive loss of the nail organ. Nail psoriasis has a severe impact on quality of life and may interfere with professional and other activities. Management includes patient counseling, avoidance of stress and strain to the nail apparatus, and different types of treatment. Topical therapy may be tried but is rarely sufficiently efficient. Perilesional injections with corticosteroids and methotrexate are often beneficial but may be painful and cannot be applied to many nails. All systemic treatments clearing widespread skin lesions usually also clear the nail lesions. Recently, biologicals were introduced into nail psoriasis treatment and found to be very effective. However, their use is restricted to severe cases due to high cost and potential systemic adverse effects. Keywords: nail psoriasis, etiology, pathology, quality of life, impact, treatment

  18. Pathological and clinical features of cystic and noncystic glioblastomas

    Utsuki, Satoshi; Oka, Hidehiro; Suzuki, Sachio; Shimizu, Satoru; Tanizaki, Yoshinori; Kondo, Koji; Fujii, Kiyotaka; Tanaka, Satoshi; Kawano, Nobuyuki

    2006-01-01

    The aim of this study is to review the different histological and clinical characteristics of glioblastoma multiforme (GBM) with and without cysts (cystic and noncystic GBM, respectively). Thirty-seven GBM were collected; these were tumors for which more than 80% of the volume was surgically resected, including a portion of the peripheral parenchyma of the brain. Based on preoperative magnetic resonance (MR) imaging studies, tumors were tentatively classified as cystic GBM if more than 50% of their volume appeared to be liquid; otherwise, they were considered to be noncystic GBM. Tumor volumes were estimated from contrast-enhanced T 1 -weighted MR images. Edema was deduced from the maximum width of contrast-enhanced edges. Peritumoral pathological analysis showed distinct margins, indicating little or no infiltration of tumor cells into white matter. Five cases were classified as cystic and 32 were noncystic GBMs. There was a statistically significant difference in age (Mann-Whitney U test; P<0.05) between the patients with cystic tumors (median, 44 years; range, 26-59 years) and those with noncystic tumors (median, 54 years; range, 26-81 years). Four of the cystic tumors and eight of the noncystic tumors were more than 5 cm in maximum diameter. Cystic GBMs had a well-defined tumor interface and less than 2-cm-thick peritumoral edema compared to the noncystic GBMs (Fisher's exact test; P<0.05). For patients with cystic GBMs, median survival time after surgery was 19.8 months and the 2-year survival rate was 50%. Patients with noncystic GBMs had a median survival time of 12.8 months and a 2-year survival rate of only 17%. Median time to tumor recurrence was 13.3 months for patients harboring cystic GBMs and 8.5 months for those with noncystic GBMs (log-rank test; P<0.05). Thus, the prognosis for cystic GBM was significantly better than that for noncystic GBM, possibly because cystic GBMs showed comparatively little infiltration of the peritumoral brain parenchyma

  19. Clinical and microbiological features of refractory periodontitis subjects.

    Colombo, A P; Haffajee, A D; Dewhirst, F E; Paster, B J; Smith, C M; Cugini, M A; Socransky, S S

    1998-02-01

    The purpose of this investigation was to compare the clinical parameters and the site prevalence and levels of 40 subgingival species in successfully treated and refractory periodontitis subjects. 94 subjects received scaling and root planing and if needed, periodontal surgery and systemically administered tetracycline. 28 refractory subjects showed mean full mouth attachment loss and/or > 3 sites showing attachment loss > 2.5 mm within 1 year post-therapy. 66 successfully treated subjects showed mean attachment level gain and no sites with attachment loss > 2.5 mm. Baseline subgingival plaque samples were taken from the mesial aspect of each tooth and the presence and levels of 40 subgingival taxa were determined using whole genomic DNA probes and checkerboard DNA-DNA hybridization. The mean levels and % of sites colonized by each species (prevalence) was computed for each subject and differences between groups sought using the Mann-Whitney test. Most of the 40 species tested, including Actinobacillus actinomycetemcomitans, Porphyromonas gingivalis, Treponema denticola and Bacteroides forsythus, were equally or less prevalent in the refractory group. Prevotella nigrescens was significantly more prevalent in successfully treated subjects, while refractory subjects harbored a larger proportion of Streptococcus species, particularly Streptococcus constellatus. The odds of a subject being refractory was 8.6 (p or = 3.5% of the total DNA probe count. Since few microbiological differences existed between treatment outcome groups using DNA probes to known species, the predominant cultivable microbiota of 33 subgingival samples from 14 refractory subjects was examined. 85% of the 1649 isolates were identified using probes to 69 recognized subgingival species. The remaining unidentified strains were classified by analyzing 16S rRNA gene sequences. Many sequenced isolates were of taxa not considered a common part of the oral microbiota such as Acinetobacter baumanni

  20. Classification and clinical features of headache patients: an outpatient clinic study from China.

    Wang, Yunfeng; Zhou, Jiying; Fan, Xiaoping; Li, Xuelian; Ran, Li; Tan, Ge; Chen, Lixue; Wang, Kuiyun; Liu, Bowen

    2011-10-01

    This study aimed to analyze and classify the clinical features of headache in neurological outpatients. A cross-sectional study was conducted consecutively from March to May 2010 for headache among general neurological outpatients attending the First Affiliated Hospital of Chongqing Medical University. Personal interviews were carried out and a questionnaire was used to collect medical records. Diagnosis of headache was according to the International classification of headache disorders, 2nd edition (ICHD-II). Headache patients accounted for 19.5% of the general neurology clinic outpatients. A total of 843 (50.1%) patients were defined as having primary headache, 454 (27%) secondary headache, and 386 (23%) headache not otherwise specified (headache NOS). For primary headache, 401 (23.8%) had migraine, 399 (23.7%) tension-type headache (TTH), 8 (0.5%) cluster headache and 35 (2.1%) other headache types. Overall, migraine patients suffered (1) more severe headache intensity, (2) longer than 6 years of headache history and (3) more common analgesic medications use than TTH ones (p headaches than migraine patients, and typically headache frequency exceeded 15 days/month (p headache patients were defined as chronic daily headache. Almost 20% of outpatient visits to the general neurology department were of headache patients, predominantly primary headache of migraine and TTH. In outpatient headaches, more attention should be given to headache intensity and duration of headache history for migraine patients, while more attention to headache frequency should be given for the TTH ones.

  1. Bladder cancer treatment response assessment with radiomic, clinical, and radiologist semantic features

    Gordon, Marshall N.; Cha, Kenny H.; Hadjiiski, Lubomir M.; Chan, Heang-Ping; Cohan, Richard H.; Caoili, Elaine M.; Paramagul, Chintana; Alva, Ajjai; Weizer, Alon Z.

    2018-02-01

    We are developing a decision support system for assisting clinicians in assessment of response to neoadjuvant chemotherapy for bladder cancer. Accurate treatment response assessment is crucial for identifying responders and improving quality of life for non-responders. An objective machine learning decision support system may help reduce variability and inaccuracy in treatment response assessment. We developed a predictive model to assess the likelihood that a patient will respond based on image and clinical features. With IRB approval, we retrospectively collected a data set of pre- and post- treatment CT scans along with clinical information from surgical pathology from 98 patients. A linear discriminant analysis (LDA) classifier was used to predict the likelihood that a patient would respond to treatment based on radiomic features extracted from CT urography (CTU), a radiologist's semantic feature, and a clinical feature extracted from surgical and pathology reports. The classification accuracy was evaluated using the area under the ROC curve (AUC) with a leave-one-case-out cross validation. The classification accuracy was compared for the systems based on radiomic features, clinical feature, and radiologist's semantic feature. For the system based on only radiomic features the AUC was 0.75. With the addition of clinical information from examination under anesthesia (EUA) the AUC was improved to 0.78. Our study demonstrated the potential of designing a decision support system to assist in treatment response assessment. The combination of clinical features, radiologist semantic features and CTU radiomic features improved the performance of the classifier and the accuracy of treatment response assessment.

  2. Clinical practice guidelines for the diagnosis and management of melanoma: melanomas that lack classical clinical features.

    Mar, Victoria J; Chamberlain, Alex J; Kelly, John W; Murray, William K; Thompson, John F

    2017-10-16

    A Cancer Council Australia multidisciplinary working group is currently revising and updating the 2008 evidence-based clinical practice guidelines for the management of cutaneous melanoma. While there have been many recent improvements in treatment options for metastatic melanoma, early diagnosis remains critical to reducing mortality from the disease. Improved awareness of the atypical presentations of this common malignancy is required to achieve this. A chapter of the new guidelines was therefore developed to aid recognition of atypical melanomas. Main recommendations: Because thick, life-threatening melanomas may lack the more classical ABCD (asymmetry, border irregularity, colour variegation, diameter > 6 mm) features of melanoma, a thorough history of the lesion with regard to change in morphology and growth over time is essential. Any lesion that is changing in morphology or growing over a period of more than one month should be excised or referred for prompt expert opinion. Changes in management as a result of the guidelines: These guidelines provide greater emphasis on improved recognition of the atypical presentations of melanoma, in particular nodular, desmoplastic and acral lentiginous subtypes, with particular awareness of hypomelanotic and amelanotic lesions.

  3. Clinical features and management of non-HIV related lipodystrophy in children: A systematic review

    Lipodystrophy syndromes are characterized by generalized or partial absence of adipose tissue. We conducted a systematic review to synthesize data on clinical and metabolic features of lipodystrophy (age at onset, Scopus and Non-Indexe...

  4. Diagnosis of Hair Loss: Clinical features of common causes of hair loss

    Coupe, Robert L.M.

    1992-01-01

    Common causes of hair loss include androgenic hair loss, alopecia areata, trichotillomania, tinea capitis, telogen effluvium, and traction alopecia. The author discusses their distinguishing clinical features and those of less common alopecias.

  5. Clinical features of dysthyroid optic neuropathy: a European Group on Graves' Orbitopathy (EUGOGO) survey

    McKeag, David; Lane, Carol; Lazarus, John H.; Baldeschi, Lelio; Boboridis, Kostas; Dickinson, A. Jane; Hullo, A. Iain; Kahaly, George; Krassas, Gerry; Marcocci, Claudio; Marinò, Michele; Mourits, Maarten P.; Nardi, Marco; Neoh, Christopher; Orgiazzi, Jacques; Perros, Petros; Pinchera, Aldo; Pitz, Susanne; Prummel, Mark F.; Sartini, Maria S.; Wiersinga, Wilmar M.

    2007-01-01

    BACKGROUND: This study was performed to determine clinical features of dysthyroid optic neuropathy (DON) across Europe. METHODS: Forty seven patients with DON presented to seven European centres during one year. Local protocols for thyroid status, ophthalmic examination and further investigation

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

    Collins, Edith; Turner, Gillian

    1973-01-01

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

  7. Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.

    Bang, Marie-Louise

    2017-01-01

    The cardiac Z-line at the boundary between sarcomeres is a multiprotein complex connecting the contractile apparatus with the cytoskeleton and the extracellular matrix. The Z-line is important for efficient force generation and transmission as well as the maintenance of structural stability and integrity. Furthermore, it is a nodal point for intracellular signaling, in particular mechanosensing and mechanotransduction. Mutations in various genes encoding Z-line proteins have been associated with different cardiomyopathies, including dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, restrictive cardiomyopathy, and left ventricular noncompaction, and mutations even within the same gene can cause widely different pathologies. Animal models have contributed to a great advancement in the understanding of the physiological function of Z-line proteins and the pathways leading from mutations in Z-line proteins to cardiomyopathy, although genotype-phenotype prediction remains a great challenge. This review presents an overview of the currently available animal models for Z-line and Z-line associated proteins involved in human cardiomyopathies with special emphasis on knock-in and transgenic mouse models recapitulating the clinical phenotypes of human cardiomyopathy patients carrying mutations in Z-line proteins. Pros and cons of mouse models will be discussed and a future outlook will be given. J. Cell. Physiol. 232: 38-52, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  8. Inferior ST-Elevation Myocardial Infarction Associated with Takotsubo Cardiomyopathy

    Oliver Koeth

    2010-01-01

    Full Text Available Takotsubo cardiomyopathy (TCM is usually characterized by transient left ventricular apical ballooning. Due to the clinical symptoms which include chest pain, electrocardiographic changes, and elevated myocardial markers, Takotsubo cardiomyopathy is frequently mimicking ST-elevation myocardial infarction in the absence of a significant coronary artery disease. Otherwise an acute occlusion of the left anterior descending coronary artery can produce a typical Takotsubo contraction pattern. ST-elevation myocardial infarction (STEMI is frequently associated with emotional stress, but to date no cases of STEMI triggering TCM have been reported. We describe a case of a female patient with inferior ST-elevation myocardial infarction complicated by TCM.

  9. A Rare Occurance with Epidermolysis Bullosa Disease: Dilated Cardiomyopathy

    Derya Cimen

    2014-02-01

    Full Text Available Epidermolysis bullosa is a congenital and herediter vesiculobullous disease. Dystrophic form of this disease is characterized by severe malnutrition, failure to thrive, adhesions at fingers, joint contractures related with the formation of scar tissues, carcinoma of the skin, anemia, hipoalbuminemia, wound enfections and sepsis. Rarely, mortal dilated cardiomyopathy may occur in patients. In this report we present a 13 year-old pediatric patient with dilated cardiomyopathy, clinically diagnosed with Epidermolysis bullosa as well as a review of recent related literature.

  10. Cardiac resynchronization therapy in a patient with amyloid cardiomyopathy.

    Zizek, David; Cvijić, Marta; Zupan, Igor

    2013-06-01

    Cardiac involvement in systemic light chain amyloidosis carries poor prognosis. Amyloid deposition in the myocardium can alter regional left ventricular contraction and cause dyssynchrony. Cardiac resynchronization therapy (CRT) is an effective treatment strategy for patients with advanced heart failure and echocardiographic dyssynchrony. We report a clinical and echocardiographic response of a patient with amyloid cardiomyopathy, treated with a combination of chemotherapy and CRT.

  11. Arrhythmogenic right ventricular cardiomyopathy in a patient with schizophrenia

    Kawasaki, Kenta; Miyaji, Kotaro; Kodera, Satoshi; Suzuki, Yoshio; Kanda, Junji; Ikeda, Masayuki

    2015-01-01

    Key Clinical Message People with schizophrenia are at greater risk of cardiovascular morbidity and mortality than the general population. Arrhythmogenic right ventricular cardiomyopathy is a recognized cause of sudden cardiac death in young people. This report discusses the necessity for close cardiac evaluation to reduce incidence of sudden death in people with schizophrenia.

  12. Clinical usefulness of T1-201 myocardial scintigraphy and diastolic phase index by gated cardiac blood pool imaging in patients with hypertrophic cardiomyopathy

    Ohmine, Hiromi; Nishimura, Tsunehiko; Hayashida, Kohhei; Uehara, Toshiisa; Kozuka, Takahiro

    1984-01-01

    Tl-201 myocardial scintigraphy and gated cardiac blood pool imaging with Tc-99m were performed at rest in 24 hypertrophic cardiomyopathy (HCM) and 11 normal subjects. Based on visual analysis of Tl-201 myocardial scintigraphies, patients with HCM were subdivided into the following four groups; type I: non-obstructive, type II: obstructive, type III: asymmetric septal hypertrophy, type IV: apical hypertrophy. Characteristic myocardial hypertrophy of each group was also confirmed from the profile curves of circumferential analysis. First third filling fraction (1/3 FF) and mean first third filling rate (1/3 FRm) were obtained from gated cardiac blood pool imaging. As compaired with the normal subjects, 1/3 FF was not so sensitive for the detection of left ventricular hypertrophy. Mean+-S.D. of 1.3 FRm were 1.96+-0.56/sec (normal group), 1.30+-0.44/sec (typ e I), 1.18+-0.63/sec (type II), 1.17+-0.14/sec (type III), and 1.26+-0.03/sec (type IV). We considered that 1/3 FRm was a useful diastolic phase index in the diagnosis of HCM. (author)

  13. Clinical and Diagnostic Features of Bronchial Asthma in Children on the Background of Latent Food Allergy

    V.M. Levytskyi

    2015-09-01

    Full Text Available Based on clinical and paraclinical examination of 112 children with bronchial asthma, there were studied the features of its course against the background of food allergy. It was found that only a set of clinical and paraclinical signs is the most important for the diagnosis of bronchial asthma in children on the background of latent food allergy.

  14. Clinical Features and Outcomes of Fusobacterium Species Infections in a Ten-Year Follow-up

    Garcia-Carretero Rafael

    2017-10-01

    Full Text Available Objective: Although uncommon, Fusobacterium infections have a wide clinical spectrum, ranging from local pharyngeal infections to septic shock. Our aim was to characterize and analyze the clinical features and outcomes in patients with Fusobacterium infections, and determine which variables were able to predict a poor outcome.

  15. BRIEF REPORT: Beyond Clinical Experience: Features of Data Collection and Interpretation That Contribute to Diagnostic Accuracy

    Nendaz, Mathieu R; Gut, Anne M; Perrier, Arnaud; Louis-Simonet, Martine; Blondon-Choa, Katherine; Herrmann, François R; Junod, Alain F; Vu, Nu V

    2006-01-01

    BACKGROUND Clinical experience, features of data collection process, or both, affect diagnostic accuracy, but their respective role is unclear. OBJECTIVE, DESIGN Prospective, observational study, to determine the respective contribution of clinical experience and data collection features to diagnostic accuracy. METHODS Six Internists, 6 second year internal medicine residents, and 6 senior medical students worked up the same 7 cases with a standardized patient. Each encounter was audiotaped and immediately assessed by the subjects who indicated the reasons underlying their data collection. We analyzed the encounters according to diagnostic accuracy, information collected, organ systems explored, diagnoses evaluated, and final decisions made, and we determined predictors of diagnostic accuracy by logistic regression models. RESULTS Several features significantly predicted diagnostic accuracy after correction for clinical experience: early exploration of correct diagnosis (odds ratio [OR] 24.35) or of relevant diagnostic hypotheses (OR 2.22) to frame clinical data collection, larger number of diagnostic hypotheses evaluated (OR 1.08), and collection of relevant clinical data (OR 1.19). CONCLUSION Some features of data collection and interpretation are related to diagnostic accuracy beyond clinical experience and should be explicitly included in clinical training and modeled by clinical teachers. Thoroughness in data collection should not be considered a privileged way to diagnostic success. PMID:17105525

  16. Inherited cardiomyopathies and sports participation.

    Zorzi, A; Pelliccia, A; Corrado, D

    2018-03-01

    Competitive sports activity is associated with an increased risk of sudden cardiovascular death in adolescents and young adults with inherited cardiomyopathies. Many young subjects aspire to continue competitive sport after a diagnosis of cardiomyopathy and the clinician is frequently confronted with the problem of eligibility and the request of designing specific exercise programs. Since inherited cardiomyopathies are the leading cause of sudden cardiovascular death during sports performance, a conservative approach implying disqualification of affected athletes from most competitive athletic disciplines is recommended by all the available international guidelines. On the other hand, we know that the health benefits of practicing recreational sports activity can overcome the potential arrhythmic risk in these patients, provided that the type and level of exercise are tailored on the basis of the specific risk profile of the underlying cardiomyopathy. This article will review the available evidence on the sports-related risk of sudden cardiac death and the recommendations regarding eligibility of individuals affected by inherited cardiomyopathies for sports activities.

  17. Clinical, biochemical and ultrasonographic features of infertile women with polycystic ovarian syndrome

    Haq, F.; Rizvi, J.

    2007-01-01

    To evaluate and compare the clinical, biochemical and ultrasonic features of infertile women with PCOS from the two infertility centers of Karachi, The Aga Khan University Hospital and Concept Fertility Centre. Patients attending the Infertility Clinics of Aga Khan University Hospital, Karachi and Concept Fertility Centre, Karachi, were evaluated for their clinical features. Complete biochemical evaluation was performed by day 2 FSH, LH, serum prolactin, serum testosterone and fasting serum insulin determination. These results were recorded on the data collection form. Ultrasonic evaluation was performed with transvaginal ultrasound to check the morphological appearance of ovaries. A total of 508 patients were evaluated for epidemiological features of PCOS. Frequency of PCOS in the infertility clinic was 17.6% with high rate of obesity (68.5%) and hyperinsulinemia (59%). The highest rate of abnormal clinical, biochemical features were seen above BMI of 30. High rates of obesity, hyperinsulinemia and impaired glycemic control were seen in this series. It was demonstrated that high BMI had an association and correlation with abnormal clinical and biochemical features. Obese women with PCOS need more attention for their appropriate management. (author)

  18. Brucellosis in Kosovo and Clinical Features of Brucellosis at University clinical center of Kosovo

    Buçaj, Emine; Puca, Edmond; Namani, Sadie; Bajrami, Muharem; Krasniqi, Valbon; Berisha, Lindita; Jakupi, Xhevat; Halili, Bahrie; Kraja, Dhimiter

    2015-01-01

    Objective: Brucellosis became a remarkable disease in Kosovo. But there is not a comprehensive epidemiological study about pidemiology and clinical course of this disease from Kosovo. The aim of our study is to present demographic and clinical data of patients with brucellosis at University Clinical Center of Kosovo.Methods: A retrospective study was performed for the patients with brucellosis treated in our clinic during years 2011- 2012. The data about demography, history of the disease, cl...

  19. Cardiovascular magnetic resonance in hypertrophic cardiomyopathy and infiltrative cardiomyopathy

    Rebecca Schofield

    2016-11-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is the most common inherited cardiac disease. Cardiac imaging plays a key role in the diagnosis and management, with cardiovascular magnetic resonance (CMR an important modality. CMR provides a number of different techniques in one examination: structure and function, flow imaging and tissue characterisation particularly with the late gadolinium enhancement (LGE technique. Other techniques include vasodilator perfusion, mapping (especially T1 mapping and extracellular volume quantification [ECV] and diffusion-weighted imaging with its potential to detect disarray. Clinically, the uses of CMR are diverse. The imaging must be considered within the context of work-up, particularly the personal and family history, Electrocardiogram (ECG and echocardiogram findings. Subtle markers of possible HCM can be identified in genotype positive left ventricular hypertrophy (LVH-negative subjects. CMR has particular advantages for assessment of the left ventricle (LV apex and is able to detect both missed LVH (apical and basal antero-septum, when the echocardiography is normal but the ECG abnormal. CMR is important in distinguishing HCM from both common phenocopies (hypertensive heart disease, athletic adaptation, ageing related changes and rarer pheno and/or genocopies such as Fabry disease and amyloidosis. For these, in particular the LGE technique and T1 mapping are very useful with a low T1 in Fabry’s, and high T1 and very high ECV in amyloidosis. Moreover, the tissue characterisation that is possible using CMR offers a potential role in patient risk stratification, as scar is a very strong predictor of future heart failure. Scar may also play a role in the prediction of sudden death. CMR is helpful in follow-up assessment, especially after septal alcohol ablation and myomectomy.

  20. Arrhythmogenic right ventricular cardiomyopathy in monozygotic twin sisters, and persistent left superior vena cava in one complicating implantation of ICD.

    Astarcıoğlu, Mehmet Ali; Yaymacı, Mehmet; Şen, Taner; Kilit, Celal; Amasyalı, Basri

    2015-10-01

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized histologically by fibro-fatty replacement of heart muscle, and clinically by ventricular arrhythmias and right ventricular dysfunction. This report presents monozygotic twins with ARVC, suggesting a genetic abnormality as the most probable cause.

  1. Cardiovascular Disease and 10-Year Mortality in Postmenopausal Women with Clinical Features of Polycystic Ovary Syndrome.

    Merz, C Noel Bairey; Shaw, Leslee J; Azziz, Ricardo; Stanczyk, Frank Z; Sopko, George; Braunstein, Glenn D; Kelsey, Sheryl F; Kip, Kevin E; Cooper-DeHoff, Rhonda M; Johnson, B Delia; Vaccarino, Viola; Reis, Steven E; Bittner, Vera; Hodgson, T Keta; Rogers, William; Pepine, Carl J

    2016-09-01

    Women with polycystic ovary syndrome (PCOS) have greater cardiac risk factor clustering but the link with mortality is incompletely described. To evaluate outcomes in 295 postmenopausal women enrolled in the National Institutes of Health-National Heart, Lung, and Blood Institute (NIH-NHLBI) sponsored Women's Ischemia Syndrome Evaluation (WISE) study according to clinical features of PCOS. A total of 25/295 (8%) women had clinical features of PCOS defined by a premenopausal history of irregular menses and current biochemical evidence of hyperandrogenemia, defined as the top quartile of androstenedione (≥701 pg/mL), testosterone (≥30.9 ng/dL), or free testosterone (≥4.5 pg/mL). Cox proportional hazard model estimated death (n = 80). Women with clinical features of PCOS had an earlier menopause (p = 0.01), were more often smokers (p PCOS (n = 270) (p = 0.85). PCOS was not a significant predictor (p = NS) in prognostic models including diabetes, waist circumference, hypertension, and angiographic CAD. From this longer-term follow up of a relatively small cohort of postmenopausal women with suspected ischemia, the prevalence of PCOS is similar to the general population, and clinical features of PCOS are not associated with CAD or mortality. These findings question whether identification of clinical features of PCOS in postmenopausal women who already have known cardiovascular disease provides any additional opportunity for risk factor intervention.

  2. Genetic Variation in Cardiomyopathy and Cardiovascular Disorders.

    McNally, Elizabeth M; Puckelwartz, Megan J

    2015-01-01

    With the wider deployment of massively-parallel, next-generation sequencing, it is now possible to survey human genome data for research and clinical purposes. The reduced cost of producing short-read sequencing has now shifted the burden to data analysis. Analysis of genome sequencing remains challenged by the complexity of the human genome, including redundancy and the repetitive nature of genome elements and the large amount of variation in individual genomes. Public databases of human genome sequences greatly facilitate interpretation of common and rare genetic variation, although linking database sequence information to detailed clinical information is limited by privacy and practical issues. Genetic variation is a rich source of knowledge for cardiovascular disease because many, if not all, cardiovascular disorders are highly heritable. The role of rare genetic variation in predicting risk and complications of cardiovascular diseases has been well established for hypertrophic and dilated cardiomyopathy, where the number of genes that are linked to these disorders is growing. Bolstered by family data, where genetic variants segregate with disease, rare variation can be linked to specific genetic variation that offers profound diagnostic information. Understanding genetic variation in cardiomyopathy is likely to help stratify forms of heart failure and guide therapy. Ultimately, genetic variation may be amenable to gene correction and gene editing strategies.

  3. Dilated congestive cardiomyopathy in Doberman pinschers

    Calvert, C.A.

    1986-01-01

    Dilated cardiomyopathy of Doberman Pinschers (DCDP) is a progressive disease often presenting with a history of episodic weakness and syncope, or with clinical signs of predominantly left-sided congestive heart failure. A systematic dissection and histomorphologic evaluation of the heart from 32 Doberman Pinschers with a clinical diagnosis of dilated cardiomyopathy revealed a highly specific location for the characteristic myocardial lesions. The lesions of DCDP were found only in the left ventricular free wall, and in 30 cases, the lesions were characterized by myofiber degeneration and atrophy, and replacement of myocardium by dense bundles of collagen and clusters of adipocytes. In the two remaining hearts, myofiber atrophy and degeneration were accompanied by collagen deposition, but not adipocytes. In stained longitudinal (base to apex) tissue sections of the left ventricle, the lesions of DCDP were usually apparent to the unaided eye; appearing as a central linear pale zone, aligned in the long axis of the ventricular free wall. The lesions did not contain inflammatory cell infiltrates and often involved >50% of ventricular wall

  4. Different Clinical Features and Lower Scores in Clinical Scoring Systems for Appendicitis in Preschool Children: Comparison with School Age Onset

    Song, Chun Woo; Kang, Joon Won; Kim, Jae Young

    2018-01-01

    Purpose To clarify the clinical features of appendicitis in preschool children and to explore clinical appendicitis scoring systems in this age group. Methods We retrospectively collected data on 142 children, aged 10 years or younger, with confirmed diagnosis of appendicitis based on surgical and pathologic findings. Enrolled subjects were divided into two groups: Group 1 (preschool children aged ≤5 years, n=41) and Group 2 (school children aged >5 to ≤10 years, n=101). Data analyzed include...

  5. Cognitive impairment and dementia in Parkinson’s disease: clinical features, diagnosis, and management

    Joana eMeireles

    2012-05-01

    Full Text Available Parkinson’s disease (PD is a common, disabling, neurodegenerative disorder. In addition to classical motor symptoms, nonmotor features are now widely accepted as part of the clinical picture, and cognitive decline is a very important aspect of the disease, as it brings an additional significant burden for the patient and caregivers. The diagnosis of cognitive decline in PD, namely mild cognitive impairment and dementia, can be extremely challenging, remaining largely based on clinical and cognitive assessments. Diagnostic criteria and methods for PD dementia and mild cognitive impairment have been recently issued by expert work groups. This manuscript has synthesized relevant data in order to obtain a pragmatic and updated review regarding cognitive decline in PD, from milder stages to dementia. This text will summarize clinical features, diagnostic methodology, and therapeutic issues of clinical decline in Parkinson’s disease. Relevant clinical genetic issues, including recent advances, will also be approached.

  6. [Clinical features of a Chinese pedigree with Waardenburg syndrome type 2].

    Yang, Shu-zhi; Yuan, Hui-jun; Bai, Lin-na; Cao, Ju-yang; Xu, Ye; Shen, Wei-dong; Ji, Fei; Yang, Wei-yan

    2005-10-12

    To investigate detailed clinical features of a Chinese pedigree with Waardenburg syndrome type 2. Members of this pedigree were interviewed to identify personal or family medical histories of hearing loss, the use of aminoglycosides, and other clinical abnormalities by filling questionnaire. The audiological and other clinical evaluations of the proband and other members of this family were conducted, including pure-tone audiometry, immittance and auditory brain-stem response and ophthalmological, dermatologic, hair, temporal bone CT examinations. This family is categorized as Waardenburg syndrome type 2 according to its clinical features. It's an autosomal dominant disorder with incomplete penetrance. The clinical features varied greatly among family members and characterized by sensorineural hearing loss, heterochromia irides, freckle on the face and premature gray hair. Hearing loss can be unilateral or bilateral, congenital or late onset in this family. This Chinese family has some unique clinical features comparing with the international diagnostic criteria for Waardenburg syndrome. This study may provide some evidences to amend the diagnostic criteria for Waardenburg syndrome in Chinese population.

  7. Isolated left ventricular non-compaction cardiomyopathy associated with polymorphous ventricular tachycardia mimicking torsades de pointes

    Oana Dickinson

    2013-02-01

    Full Text Available Left ventricular non-compaction (LVNC cardiomyopathy is a rare congenital disorder, classified by the American Heart Association as a primary genetic cardiomyopathy and characterized by multiple trabeculations within the left ventricle. LVNC cardiomyopathy has been associated with 3 major clinical manifestations: heart failure, atrial and ventricular arrhythmias and thromboembolic events, including stroke. In this case report, we describe a female patient with apparently isolated LVNC in whom pause-dependent polymorphic ventricular tachycardia suggesting torsades de pointes occurred in the presence of a normal QT interval.

  8. Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy

    Jennifer England

    2017-07-01

    Full Text Available Animals have frequently been used as models for human disorders and mutations. Following advances in genetic testing and treatment options, and the decreasing cost of these technologies in the clinic, mutations in both companion and commercial animals are now being investigated. A recent review highlighted the genes associated with both human and non-human dilated cardiomyopathy. Cardiac troponin T and dystrophin were observed to be associated with both human and turkey (troponin T and canine (dystrophin dilated cardiomyopathies. This review gives an overview of the work carried out in cardiac troponin T and dystrophin to date in both human and animal dilated cardiomyopathy.

  9. Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy.

    England, Jennifer; Loughna, Siobhan; Rutland, Catrin Sian

    2017-07-07

    Animals have frequently been used as models for human disorders and mutations. Following advances in genetic testing and treatment options, and the decreasing cost of these technologies in the clinic, mutations in both companion and commercial animals are now being investigated. A recent review highlighted the genes associated with both human and non-human dilated cardiomyopathy. Cardiac troponin T and dystrophin were observed to be associated with both human and turkey (troponin T) and canine (dystrophin) dilated cardiomyopathies. This review gives an overview of the work carried out in cardiac troponin T and dystrophin to date in both human and animal dilated cardiomyopathy.

  10. Takotsubo cardiomyopathy: A known unknown foe of asthma.

    Kotsiou, Ourania S; Douras, Alexandros; Makris, Demosthenes; Mpaka, Nikoleta; Gourgoulianis, Konstantinos I

    2017-10-01

    Patients with uncontrolled asthma are at a greater risk of asthma attacks requiring emergency room visits or hospital admissions. Takotsubo cardiomyopathy is potentially a significant complication in a course of status asthmaticus. We describe a 43-year-old female patient who presented with status asthmaticus that was further complicated with takotsubo cardiomyopathy. Recognizing apical ballooning syndrome is challenging in patients with a history of respiratory disease because the symptoms of the last entity may complicate the diagnostic approach. It is difficult to distinguish clinically apical ballooning syndrome from the acute airway exacerbation itself. Both asthma and takotsubo cardiomyopathy share the same clinical presentation with dyspnea and chest tightness. In our patient, the electrocardiographic abnormalities, the rapidly reversible distinctive characteristics of echocardiography, and the modest elevation of serum cardiac biomarkers levels, in combination with the presence of a stress trigger (severe asthma attack), strongly supported the diagnosis of broken heart syndrome. Clinicians should re-evaluate asthma management and be aware of the complications associated with asthma attacks such as stress-induced cardiomyopathy.

  11. Clinical features and early treatment response of central nervous system involvement in childhood acute lymphoblastic leukemia

    Levinsen, Mette; Taskinen, Mervi; Abrahamsson, Jonas

    2014-01-01

    BACKGROUND: Central nervous system (CNS) involvement in childhood acute lymphoblastic leukemia (ALL) remains a therapeutic challenge. PROCEDURE: To explore leukemia characteristics of patients with CNS involvement at ALL diagnosis, we analyzed clinical features and early treatment response of 744...... leukemia and patients without such characteristics (0.50 vs. 0.61; P = 0.2). CONCLUSION: CNS involvement at diagnosis is associated with adverse prognostic features but does not indicate a less chemosensitive leukemia....

  12. Evaluation of features to support safety and quality in general practice clinical software

    2011-01-01

    Background Electronic prescribing is now the norm in many countries. We wished to find out if clinical software systems used by general practitioners in Australia include features (functional capabilities and other characteristics) that facilitate improved patient safety and care, with a focus on quality use of medicines. Methods Seven clinical software systems used in general practice were evaluated. Fifty software features that were previously rated as likely to have a high impact on safety and/or quality of care in general practice were tested and are reported here. Results The range of results for the implementation of 50 features across the 7 clinical software systems was as follows: 17-31 features (34-62%) were fully implemented, 9-13 (18-26%) partially implemented, and 9-20 (18-40%) not implemented. Key findings included: Access to evidence based drug and therapeutic information was limited. Decision support for prescribing was available but varied markedly between systems. During prescribing there was potential for medicine mis-selection in some systems, and linking a medicine with its indication was optional. The definition of 'current medicines' versus 'past medicines' was not always clear. There were limited resources for patients, and some medicines lists for patients were suboptimal. Results were provided to the software vendors, who were keen to improve their systems. Conclusions The clinical systems tested lack some of the features expected to support patient safety and quality of care. Standards and certification for clinical software would ensure that safety features are present and that there is a minimum level of clinical functionality that clinicians could expect to find in any system.

  13. Prediction models for solitary pulmonary nodules based on curvelet textural features and clinical parameters.

    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. Clinical Features in a Danish Population-Based Cohort of Probable Multiple System Atrophy Patients

    Starhof, Charlotte; Korbo, Lise; Lassen, Christina Funch

    2016-01-01

    Background: Multiple system atrophy (MSA) is a rare, sporadic and progressive neurodegenerative disorder. We aimed to describe the clinical features of Danish probable MSA patients, evaluate their initial response to dopaminergic therapy and examine mortality. Methods: From the Danish National...... the criteria for probable MSA. We recorded clinical features, examined differences by MSA subtype and used Kaplan-Meier survival analysis to examine mortality. Results: The mean age at onset of patients with probable MSA was 60.2 years (range 36-75 years) and mean time to wheelchair dependency was 4.7 years...

  15. Clinical features of diabetes mellitus in Japan as observed in a hospital outpatient clinic

    Wada, Sunao; Toda, Shintaro; Omori, Yoshiaki; Yamakido, Michio; Blackard, W G

    1963-04-18

    A university diabetes clinic in Japan was characterized by age at examination, age at onset, sex ratio, microangiopathies, atherosclerotic complications, weight, heredity, and diet. The findings in this clinic, along with those from other diabetes clinics in Japan, were compared with studies on Western diabetics. The similarities between the 2 diabetic populations far outnumbered the dissimilarities. However, diabetes mellitus in Japan is distinguished by infrequent occurrence of juvenile diabetes and ketosis, relative lack of atherosclerotic complications, and reversal of the sex ratio. 39 references, 7 tables.

  16. [Clinical and histopathological features of myositis associated with anti-mitochondrial antibodies].

    Shimizu, Jun

    2013-01-01

    Anti-mitochondrial antibodies (AMA) are known to be characteristic markers of primary biliary cirrhosis (PBC). The association of PBC with myositis has been reported mainly as case reports, and comprehensive studies of the clinical and histopathological features of patients with myositis and AMAs or PBC have not been conducted thus far. We retrospectively reviewed 212 patients with inflammatory myopathies in our laboratory and found 24 patients with AMA-positive myositis (11%) (seven patients with PBC and 17 patients without PBC). The analysis of clinical and histopathological features revealed that myositis associated with AMAs frequently include patients with a clinically chronic disease course, muscle atrophy, cardiopulmonary involvement and granulomatous inflammation, regardless of the presence or absence of PBC. We also reviewed and analyzed the clinical features of previously reported patients. The analysis of 75 patients, which have been described in previous case reports including the ones of meeting abstracts, also showed the similar results about clinical features of myositis associated with AMAs and supported our findings. Our study suggests that myositis associated with AMAs form a characteristic subgroup.

  17. Clinical Significance of Histological Features of Thrombi in Patients with Myocardial Infarction

    Sebben, Juliana Canedo; Cambruzzi, Eduardo; Avena, Luisa Martins; Gazeta, Cristina do Amaral; Gottschall, Carlos Antonio Mascia; Quadros, Alexandre Schaan de, E-mail: quadros.pesquisa@gmail.com [Instituto de Cardiologia / Fundação Universitária de Cardiologia - IC/FUC, Porto Alegre, RS (Brazil)

    2013-12-15

    Percutaneous Coronary Intervention (PCI) is the most common strategy for the treatment of Acute ST segment elevation Myocardial Infarction (STEMI), and thromboaspiration has been increasingly utilized for removal of occlusive thrombi. To analyze the influence of histopathological features of coronary thrombi in clinical outcomes of patients with STEMI, and the association of these variables with clinical, angiographic, and laboratory features and medications used in hospitalization. Prospective cohort study. All patients were monitored during hospitalization and thirty days after the event. Aspirated thrombi were preserved in formalin and subsequently stained with hematoxylin-eosin and embedded in paraffin. Thrombi were classified as recent and old. The primary outcome was the occurrence of major cardiovascular events within thirty days. During the study period, 1,149 patients were evaluated with STEMI, and 331 patients underwent thrombi aspiration, leaving 199 patients available for analysis. It was identified recent thrombi in 116 patients (58%) and old thrombi in 83 patients (42%). Recent thrombi have greater infiltration of red blood cells than old thrombi (p = 0.02), but there were no statistically significant differences between other clinical, angiographic, laboratory, and histopathological features and medications in both group of patients. The rates of clinical outcomes were similar in both groups. Recent thrombi were identified in 58% of patients with STEMI and it was observed an association with infiltration of red blood cells. There was no association between histopathological features of thrombi and clinical variables and cardiovascular outcomes.

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

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

    2013-01-01

    Aim: The aim of work was presentation of several socio-demographic, clinical and laboratory characteristics of gastroenteritis caused by rotavirus. The examinees and methods: The examinees were children under the age of five years treated at the Pediatric Clinic due to acute gastroenteritis caused by rotavirus. Rotavirus is isolated by method chromatographic immunoassay by Cer Test Biotec. Results: From the total number of patients (850) suffering from acute gastroenteritis, feces test on bac...

  19. [Application of next-generation semiconductor sequencing technologies in genetic diagnosis of inherited cardiomyopathies].

    Zhao, Yue; Zhang, Hong; Xia, Xue-shan

    2015-07-01

    Inherited cardiomyopathy is the most common hereditary cardiac disease. It also causes a significant proportion of sudden cardiac deaths in young adults and athletes. So far, approximately one hundred genes have been reported to be involved in cardiomyopathies through different mechanisms. Therefore, the identification of the genetic basis and disease mechanisms of cardiomyopathies are important for establishing a clinical diagnosis and genetic testing. Next-generation semiconductor sequencing (NGSS) technology platform is a high-throughput sequencer capable of analyzing clinically derived genomes with high productivity, sensitivity and specificity. It was launched in 2010 by Life Technologies of USA, and it is based on a high density semiconductor chip, which was covered with tens of thousands of wells. NGSS has been successfully used in candidate gene mutation screening to identify hereditary disease. In this review, we summarize these genetic variations, challenge and application of NGSS in inherited cardiomyopathy, and its value in disease diagnosis, prevention and treatment.

  20. Evaluation of left cardiac function by exercise in hypertrophic cardiomyopathy

    Konishi, Tokuji; Horayama, Norihisa; Hamada, Masayuki; Nakano, Takeshi; Takezawa, Hideo

    1981-01-01

    Left ventricular systolic and diastolic features at rest and exercise in hypertrophic cardiomyopathy were evaluated by Fourier analysis of blood pool scintigraphy (intracorporeal labelling with sup(99m)Tc-RBC). In the normal group (17 subjects), the left ventricular ejection fraction showed a linear increase, but no abnormality of regional ventricular wall motion, by multistage exercises. The hypertrophic cardiomyopathy group showed higher left ventricular ejection fractions at rest than those of the normal group, and in the HCM group (non-obstructive, from morphological features; 7 cases) the left ventricular ejection fraction did not increase any more when it reached a certain plateau in accordance with increased stress. In the HOCM (obstructive; 5 cases), the left ventricular ejection fraction showed a decreasing tendency as the stress was increased and also showed contractile abnormalities from the left ventricular center to the apex. Fourier analysis was effective for the evaluation of these changes. (Chiba, N.)

  1. New insights into cirrhotic cardiomyopathy

    Møller, Søren; Hove, Jens D; Dixen, Ulrik

    2013-01-01

    beta-receptor function seem involved in the autonomic and cardiac dysfunction. Cirrhotic cardiomyopathy can be revealed by tissue Doppler imaging but is best demasked by physical or pharmacological stress. Liver transplantation may revert cardiac dysfunction but surgery and shunt insertion may also...

  2. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options

    Tanna, P.; Strauss, R. W.; Fujinami, K.; Michaelides, M.

    2017-01-01

    Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4 Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features of STGD1, and also the underlying pathophysiology, which has culminated in ongoing and planned human clinical trials of novel therapies. The aims of this review are to describe the detailed phenotypic and genot...

  3. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options

    Tanna, Preena; Strauss, Rupert W; Fujinami, Kaoru; Michaelides, Michel

    2016-01-01

    Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4. Significant advances have been made over the last 10?years in our understanding of both the clinical and molecular features of STGD1, and also the underlying pathophysiology, which has culminated in ongoing and planned human clinical trials of novel therapies. The aims of this review are to describe the detailed phenotypic and geno...

  4. Mechanical and geometric features of endodontic instruments and its clinical effect

    Hyeon-Cheol Kim

    2011-01-01

    Introduction The aim of this paper is to discuss the mechanical and geometric features of Nickel-titanium (NiTi) rotary files and its clinical effects. NiTi rotary files have been introduced to the markets with their own geometries and claims that they have better ability for the root canal shaping than their competitors. The contents of this paper include the (possible) interrelationship between the geometries of NiTi file (eg. tip, taper, helical angle, etc) and clinical performance ...

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

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

    2014-01-01

    Introduction: Patients with growth hormone (GH) insensitivity (also known as Laron syndome) have been reported from the Mediterranean region and Southern Eucador, with few case reports from India. We present here the clinical and endocrine profile of 9 children with Laron syndrome from India. Material and Methods: Nine children diagnosed with Laron syndrome based on clinical features of GH deficiency and biochemical profile suggestive of GH resistance were studied over a period of 5 years fro...

  6. Clinical features of Parkinson’s disease with and without rapid eye movement sleep behavior disorder

    Liu, Ye; Zhu, Xiao-Ying; Zhang, Xiao-Jin; Kuo, Sheng-Han; Ondo, William G.; Wu, Yun-Cheng

    2017-01-01

    Background Rapid eye movement sleep behavior disorder (RBD) and Parkinson’s disease (PD) are two distinct clinical diseases but they share some common pathological and anatomical characteristics. This study aims to confirm the clinical features of RBD in Chinese PD patients. Methods One hundred fifty PD patients were enrolled from the Parkinson`s disease and Movement Disorders Center in  Department of Neurology, Shanghai General Hospital from January 2013 to August 2014. This study examined P...

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

    Nguyen, Ho V.; Ishak, Gisele E.

    2015-01-01

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

  8. BLINCK?A diagnostic algorithm for skin cancer diagnosis combining clinical features with dermatoscopy findings

    Bourne, Peter; Rosendahl, Cliff; Keir, Jeff; Cameron, Alan

    2012-01-01

    Background: Deciding whether a skin lesion requires biopsy to exclude skin cancer is often challenging for primary care clinicians in Australia. There are several published algorithms designed to assist with the diagnosis of skin cancer but apart from the clinical ABCD rule, these algorithms only evaluate the dermatoscopic features of a lesion. Objectives: The BLINCK algorithm explores the effect of combining clinical history and examination with fundamental dermatoscopic assessment in primar...

  9. Histological, Immunohistological, and Clinical Features of Merkel Cell Carcinoma in Correlation to Merkel Cell Polyomavirus Status

    T. Jaeger

    2012-01-01

    Full Text Available Merkel cell carcinoma is a rare, but highly malignant tumor of the skin with high rates of metastasis and poor survival. Its incidence rate rises and is currently about 0.6/100000/year. Clinical differential diagnoses include basal cell carcinoma, cyst, amelanotic melanoma, lymphoma and atypical fibroxanthoma. In this review article clinical, histopathological and immunhistochemical features of Merkel cell carcinoma are reported. In addition, the role of Merkel cell polyomavirus is discussed.

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

    Nguyen, Ho V.; Ishak, Gisele E. [University of Washington, Department of Radiology, Seattle Children' s Hospital, Seattle, WA (United States)

    2015-03-01

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

  11. The Mutations Associated with Dilated Cardiomyopathy

    Ruti Parvari

    2012-01-01

    Full Text Available Cardiomyopathy is an important cause of heart failure and a major indication for heart transplantation in children and adults. This paper describes the state of the genetic knowledge of dilated cardiomyopathy (DCM. The identification of the causing mutation is important since presymptomatic interventions of DCM have proven value in preventing morbidity and mortality. Additionally, as in general in genetic studies, the identification of the mutated genes has a direct clinical impact for the families and population involved. Identifying causative mutations immediately amplifies the possibilities for disease prevention through carrier screening and prenatal testing. This often lifts a burden of social isolation from affected families, since healthy family members can be assured of having healthy children. Identification of the mutated genes holds the potential to lead to the understanding of disease etiology, pathophysiology, and therefore potential therapy. This paper presents the genetic variations, or disease-causing mutations, contributing to the pathogenesis of hereditary DCM, and tries to relate these to the functions of the mutated genes.

  12. Living with hypertrophic cardiomyopathy.

    Subasic, Kim

    2013-12-01

    The purpose of this study is to provide an insider's account of what it is like to live with hypertrophic cardiomyopathy (HCM), a genetic cardiovascular illness that carries the risk for sudden cardiac death. This study aims to reveal how HCM impacts the family and guides the decision whether or not to pursue genetic testing, how the physical limitations associated with HCM alter being-in-the-world, and how HCM alters social relationships. Fifteen adults with HCM were recruited for a longitudinal, phenomenological, qualitative study through purposive sampling and word of mouth. A total of 45 interviews were conducted by the researcher at a time and place designated by the participant between August 2011 and January 2012. The first interview with each participant was conducted in person. While efforts were made to conduct all interviews in person, a total of three interviews were conducted by telephone as requested by three participants due to scheduling conflicts. Through methods of interpretive phenomenology, three audio-recorded, semistructured interviews occurred over the course of 3 months. Detailed narratives were solicited and transcribed verbatim. Methodological and analytical documentation was supported with the identification of key phrases, similar experiences, themes, and documentation of the rationale for decisions throughout the research process. Participation in genetic testing carries a multitude of personal, familial, financial, and emotional implications. The results of a genetic test elicited an emotional response regardless of whether the results were negative, positive, or inconclusive. Living with a potentially life-threatening illness altered identity, disrupted social relationships, and generated chronic fear and uncertainty. A new normal was re-ordered or transformed by the demands and limitations posed by HCM, and by the person's concerns, priorities, and the meaning of the illness. Results from this study underscore the need for healthcare

  13. Ischemic Stroke in a Young Patient Heralding a Left Ventricular Noncompaction Cardiomyopathy

    Fanny Lestienne

    2017-08-01

    Full Text Available Strokes in young patients may be the clinical expression of many complex and extremely rare diseases. Uncommon causes constitute less than 5% of all strokes, but are present in 30% of strokes in young patients. We report the case of a young woman whose ischemic stroke led to the diagnosis of a rare embolic cardiomyopathy, left ventricular noncompaction cardiomyopathy, requiring a heart transplant.

  14. Brucellosis in Kosovo and Clinical Features of Brucellosis at University clinical center of Kosovo

    Emine Qehaja Buçaj

    2015-12-01

    Full Text Available Objective: Brucellosis became a remarkable disease in Kosovo. But there is not a comprehensive epidemiological study about epidemiology and clinical course of this disease from Kosovo. The aim of our study is to present demographic and clinical data of patients with brucellosis at University Clinical Center of Kosovo. Methods: A retrospective study was performed for the patients with brucellosis treated in our clinic during years 2011- 2012. The data about demography, history of the disease, clinical presentations, serological test, serum biochemistry and reatment were collected from hospital medical records. The diagnosis of brucellosis based on clinical and laboratory findings. Results: This descriptive study included 47 patients, who 33 of them (70.2% were males. The mean age was 37.9 ± 19.3 years. The route of transmission of the disease was known in 28 59.5% of them. Direct contact with livestock in 22 (46.8% and ingestion of dairy products in six cases (12.7% were reported as the transmission route. The majority of patients (27 patients, 57.4% were from rural area. The main presenting symptoms were atigue, fever and arthralgia. Osteoarticular manifestations were the common forms of localized disease. Regarding to the therapy, 45 (95.7% of patients were treated with streptomycin and doxycycline for the first three weeks. Conclusion: Human brucellosis is not a common in Kosovo but there is a potential risk. Osteoarticular symptoms were the most common presentation reasons. The most effective and preferred treatment regimen was Streptomycin plus Doxycycline for the first three weeks, and Doxycycline plus Rifampicin thereafter. J Microbiol Infect Dis 2015;5(4: 147-150

  15. Pheochromocytoma presenting as takotsubo-like cardiomyopathy following delivery.

    Jóźwik-Plebanek, Katarzyna; Pęczkowska, Mariola; Klisiewicz, Anna; Wrzesiński, Kazimierz; Prejbisz, Aleksander; Niewada, Maciej; Kabat, Marek; Szperl, Małgorzata; Eisenhofer, Graeme; Lenders, Jacques W; Januszewicz, Andrzej

    2014-12-01

    Diagnosis of pheochromocytoma during pregnancy can be difficult, and the tumor carries an unfavorable prognosis if not diagnosed and treated in a timely manner. To present a case of Takotsubo-like cardiomyopathy characterized by transient left ventricular apical ballooning due to pheochromocytoma following delivery. A few hours after Caesarean section, a 32-year-old Caucasian female presented with pulmonary edema followed by cardiac arrest with echocardiographic and ventriculographic evidence of reversible acute myocardial failure characteristic of Takotsubo-like cardiomyopathy. A previously unrecognized adrenal pheochromocytoma was found during her clinical work-up. Left ventricle (LV) function normalized after surgical removal of the tumor, which was carried out after implementing an alpha-adrenoreceptor blockade. Hemorrhagic necrosis of the pheochromocytoma was seen on histopathologic analysis; this may have triggered the sequence of events leading to the development of Takotsubo-like cardiomyopathy and hemodynamic collapse. To the best of our knowledge, this is the first reported case of Takotsubo-like cardiomyopathy related to pheochromocytoma following delivery. This emphasizes the increased cardiovascular risk if pheochromocytoma is not diagnosed and treated in a timely manner, especially during pregnancy.

  16. Sciatica-like symptoms and the sacroiliac joint: clinical features and differential diagnosis

    Visser, L.H.; Nijssen, P.G.; Tijssen, C.C.; Middendorp, J.J. van; Schieving, J.H.

    2013-01-01

    PURPOSE: To compare the clinical features of patients with sacroiliac joint (SIJ)-related sciatica-like symptoms to those with sciatica from nerve root compression and to investigate the necessity to perform radiological imaging in patients with sciatica-like symptoms derived from the SIJ. METHODS:

  17. Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation

    Lehmann, A.R.; Thompson, A.F.; Harcourt, S.A.

    1993-01-01

    Cockayne's syndrome (CS) is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. In cultured CS fibroblasts, the failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful and relatively simple diagnostic test. We have measured post-UV-C RNA synthesis in 52 patients for whom a clinical diagnosis of CS was considered a possibility. Twenty-nine patients showed the defect characteristic of CS cells, and 23 had a normal response. We have attempted to correlate the cellular diagnosis with the different clinical features of the disorder. Clinical details of the patients were obtained from referring clinicians in the form of a questionnaire. Our results show that, apart from the cardinal features of dwarfism and mental retardation, sun sensitivity correlated best with a positive cellular diagnosis. Pigmentary retinopathy, gait defects, and dental caries were also good positive indicators, although several patients with a positive cellular diagnosis did not have these features. (Author)

  18. High-Resolution Anoscopy: Clinical Features of Anal Intraepithelial Neoplasia in HIV-positive Men

    Richel, Olivier; Hallensleben, Nora D. L.; Kreuter, Alexander; van Noesel, Carel J. M.; Prins, Jan M.; de Vries, Henry J. C.

    2013-01-01

    BACKGROUND: High-resolution anoscopy is increasingly advocated to screen HIV+ men who have sex with men for anal cancer and its precursor lesions, anal intraepithelial neoplasia. A systematic comparison between clinical features and the histopathology of suspect lesions is lacking. OBJECTIVE: This

  19. Clinical and MRI features of prostate sarcoma: comparison with prostate adenocarcinoma

    Ding Jianping; Wang Xiaoying; Wang Zhenzhong; Zhou Liangping; Jiang Xuexiang

    2004-01-01

    Objective: To summarize the clinical and imaging features of prostate sarcoma, and to compare the features with those of prostate adenocarcinoma (PCa). Method: Six cases of prostate sarcoma proved pathologically were enrolled in this study. The clinical material and imaging features were compared with those of the PCa. Results: (1) Pathological result: Among the 6 prostate sarcomas, 3 were rhabdomyosarcoma, 1 was leiomyosarcoma, and 2 were sarcoma originated from interstitial tissue that could not be classified. (2) Clinical result: The 6 patients of sarcoma were younger (median age 36.5, 15-71 years) than the patients of PCa (median age 72, 50-78 years) (P -3 ng/L] was normal and lower than that of the PCa patients [median 27.80, (1.55-352.00) x 10 -3 ng/ L] (P 3 ) was larger than that of PCa (median 41.57, 17.16-179.44 cm 3 ) (P 2 -weighted images, with grossly normal structure of the prostate. Excapsular extension was more common in the sarcomas than in the PCa (83.3% vs 66.7%). Conclusion: The clinical and imaging features of prostate sarcoma are different from those of prostate adenocarcinoma

  20. A comparison of the clinical features of depression in hiv-positive ...

    by far the worst affected region in the world with a continental prevalence of around ... This study compared the clinical features of major depression between .... programme Statistical Package for Social Scientists (SPSS), version 11.5. ... HIV-Positive N=64 n(%) HIV-Negative N=66 n(%) X2. OR (95%CI). P-Value. Gender.

  1. Clinical features and differential diagnosis of type 2 diabetes mellitus in children

    Tamara Leonidovna Kuraeva

    2009-09-01

    Full Text Available This review was designed to evaluate prevalence, specific clinical features, and differential diagnosis of type 2 diabetes mellitus (DM2 in childrenand adolescents. Special emphasis is laid on the importance of immunological and molecular-genetic studies for the verification of diagnosis and activecase detection in h groups.

  2. Feature Issue Introduction: Bio-Optics in Clinical Applications, Nanotechnology, and Drug Discovery

    Nordstrom, Robert J.; Almutairi, Adah; Hillman, Elizabeth M.C.

    2010-01-01

    The editors introduce the Biomedical Optics Express feature issue, “Bio-Optics in Clinical Applications, Nanotechnology, and Drug Discovery,” which combines three technical areas from the 2010 Optical Society of America (OSA), Biomedical Optics (BIOMED) Topical Meeting held on 11–14 April in Miami, FL and includes contributions from conference attendees.

  3. Differential clinical features and stool findings in shigellosis and amoebic dysentery

    Speelman, P.; McGlaughlin, R.; Kabir, I.; Butler, T.

    1987-01-01

    To obtain information that could assist the clinician to differentiate between shigellosis and amoebic dysentery, we compared clinical features and stool findings in 58 adult male patients in Bangladesh. Mean values indicated that patients with invasive amoebiasis were older and had a longer

  4. Eccrine Porocarcinoma: Patient Characteristics, Clinical and Histopathologic Features, and Treatment in 7 Cases.

    Gómez-Zubiaur, A; Medina-Montalvo, S; Vélez-Velázquez, M D; Polo-Rodríguez, I

    2017-05-01

    Eccrine porocarcinoma is a rare, malignant cutaneous adnexal tumor that arises from the ducts of sweat glands. Found mainly in patients of advanced age, this tumor has diverse clinical presentations. Histology confirms the diagnosis, detects features relevant to prognosis, and guides treatment. Growth is slow, but the prognosis is poor if the tumor metastasizes to lymph nodes or visceral organs. We report 7 cases of eccrine porocarcinoma, describing patient characteristics, the clinical and histopathologic features of the tumors, and treatments used. Our observations were similar to those of other published case series. Given the lack of therapeutic algorithms or protocols for this carcinoma, we propose a decision-making schema based on our review of the literature and our experience with this case series. The algorithm centers on sentinel lymph node biopsy and histologic features. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  5. Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

    Al-Otaibi Faisal

    2012-05-01

    Full Text Available Abstract Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management.

  6. [Study on computed tomography features of nasal septum cellule and its clinical significance].

    Huang, Dingqiang; Li, Wanrong; Gao, Liming; Xu, Guanqiang; Ou, Xiaoyi; Tang, Guangcai

    2008-03-01

    To investigate the features of nasal septum cellule in computed tomographic (CT) images and its clinical significance. CT scans data of nasal septum in 173 patients were randomly obtained from January 2001 to June 2005. Prevalence and clinical features were summarized in the data of 19 patients with nasal septum cellule retrospectively. (1) Nineteen cases with nasal septum cellule were found in 173 patients. (2) All nasal septum cellule of 19 cases located in perpendicular plate of the ethmoid bone, in which 8 cases located in upper part of nasal septum and 11 located in middle. (3) There were totally seven patients with nasal diseases related to nasal septum cellule, in which 3 cases with inflammation, 2 cases with bone fracture, 1 case with cholesterol granuloma, 1 case with mucocele. Nasal septum cellule is an anatomic variation of nasal septum bone, and its features can provide further understanding of some diseases related to nasal septum cellule.

  7. Histological characterization of dilated cardiomyopathy in the juvenile toy Manchester terrier.

    Legge, C H; López, A; Hanna, P; Côté, E; Hare, E; Martinson, S A

    2013-11-01

    Dilated cardiomyopathy (DCM), the most common form of cardiomyopathy in the dog, most often occurs in certain breeds. The objective of this study was to describe a rapidly progressive form of DCM that has been recently recognized in juvenile Toy Manchester Terrier dogs (TMTs). The clinical history and gross findings were reviewed in a group of 14 TMTs, and histologic sections of heart were examined in 12 of those 14 TMTs with DCM. Histochemical and histomorphometric analyses were employed to compare the heart in TMTs affected by DCM with that of control dogs. TMTs ranged in age from 10 to 58.3 weeks, with males and females being equally affected. Affected TMT hearts contained foci of degeneration and loss of myofibers with fibrosis and mild lymphoplasmacytic infiltrates. Less prominent features included foci of acute myofiber degeneration and necrosis with or without intralesional mineralization and mild to moderate suppurative and lymphoplasmacytic infiltrates. Morphometric quantification demonstrated that the right ventricle was more severely affected (P ≤ .05) than the left ventricle with variable involvement of the interventricular septum. Immunohistochemistry for canine parvovirus was negative in all heart samples. However, the absence of parvoviral antigen does not rule out a possible viral or autoimmune cause. The presence of these myocardial lesions among closely related dogs suggests a genetic contribution to this disease process in the TMT.

  8. Clinical and electrophysiological findings in patients with phenylketonuria and epilepsy: Reflex features.

    Yildiz Celik, Senay; Bebek, Nerses; Gurses, Candan; Baykan, Betul; Gokyigit, Aysen

    2018-03-23

    Phenylketonuria (PKU) is the most common form of amino acid metabolism disorders with autosomal recessive inheritance. The brain damage can be prevented by early diagnosis and a phenylalanine-restricted diet. Untreated or late-treated patients may show mental retardation and other cognitive dysfunctions, as well as motor disability and/or epilepsy. Three patients with PKU and epilepsy were recognized to have reflex epileptic features, and there were ten consecutive adult patients with PKU and epilepsy who were evaluated retrospectively. Medical history, ages at diagnosis and therapy onset, age at seizure onset, seizure types and reflex features, neurological findings, cranial imaging, electroencephalography (EEG) findings, and final clinical condition were evaluated. Reflex epilepsy features were examined in detail. The cases (6 females, 4 males) were diagnosed at ages between 3.5months and 12years. All patients had various degrees of mental-motor retardation and focal or generalized seizures with age at seizure onset varied between neonatal period and 15years. Three patients had febrile seizure, 3 patients had myoclonia, and 3 patients had status epilepticus. All patients had abnormal EEG findings except one. There was a slowing of background activity, and generalized discharges were observed in 7 patients; 3 of them had asymmetrical discharges. One patient had right hippocampal sclerosis (HS), and another patient had hypointensities in the basal ganglia and corpus callosum. Reflex features were clinically observed in 3 of the patients; however, EEG results did not show any related findings. One patient had reflex seizures triggered by photic stimuli, hot water, and startling; one by photic stimuli; and the other one by startling. Reports on the clinical and electrophysiological features of adult patients with PKU were scant. We emphasized that reflex clinical features may be observed in this metabolic disease, and focal epileptiform abnormalities and asymmetry

  9. Hereditary arrhythmias and cardiomyopathies: decision-making about genetic testing.

    Louis, Clauden; Calamaro, Emily; Vinocur, Jeffrey M

    2018-01-01

    The modern field of clinical genetics has advanced beyond the traditional teachings familiar to most practicing cardiologists. Increased understanding of the roles of genetic testing may improve uptake and appropriateness of use. Clinical genetics has become integral to the management of patients with hereditary arrhythmia and cardiomyopathy diagnoses. Depending on the condition, genetic testing may be useful for diagnosis, prognosis, treatment, family screening, and reproductive planning. However, genetic testing is a powerful tool with potential for underuse, overuse, and misuse. In the absence of a substantial body of literature on how these guidelines are applied in clinical practice, we use a case-based approach to highlight key lessons and pitfalls. Importantly, in many scenarios genetic testing has become the standard of care supported by numerous class I recommendations; genetic counselors can improve accessibility to and appropriate use and application of testing. Optimal management of hereditary arrhythmias and cardiomyopathies incorporates genetic testing, applied as per consensus guidelines, with involvement of a multidisciplinary team.

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

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

    2016-08-01

    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. We have ascertained five adult patients and report their clinical features. 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. PRDM12-CIP is a distinct and diagnosable disorder, and requires specific clinical management to minimise predictable complications. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  11. Surgery planning and navigation by laser lithography plastic replica. Features, clinical applications, and advantages

    Kihara, Tomohiko; Tanaka, Yuuko; Furuhata, Kentaro

    1995-01-01

    The use of three-dimensional replicas created using laserlithography has recently become popular for surgical planning and intraoperative navigation in plastic surgery and oral maxillofacial surgery. In this study, we investigated many clinical applications that we have been involved in regarding the production of three-dimensional replicas. We have also analyzed the features, application classes, and advantages of this method. As a result, clinical applications are categorized into three classes, which are 'three-dimensional shape recognition', 'simulated surgery', and 'template'. The distinct features of three-dimensional replicas are 'direct recognition', 'fast manipulation', and 'free availability'. Meeting the requirements of surgical planning and intraoperative navigation, they have produced satisfactory results in clinical applications. (author)

  12. Clinical features analysis of elderly patients with malignant tumor before dying

    Tang Haiying

    2010-01-01

    Objective: To analyse the clinical features of elderly patients with malignant tumor before death. Method: Fifty-two elderly patients with malignant tumor were retrospectively analyzed respectively from sputum culture and plasma FIB, D-dimer, albumin, hemoglobin aspects. Result: Results of sputum cultures showed the percentage of gram-negative bacteria was 56. 6%, gram-positive bacteria was 24. 5% and fungus was 18. 8%. The level of plasma FIB and D-dimer in the tumor group significantly higher than those in the control (P < 0. 05). The level of plasma albumin and hemoglobin in the tumor group were significantly lower than those in the control (P < 0. 01). Conclusion: Elderly patients with malignant tumor has obvious clinical features before death. Understanding them has important significance for guidelines of clinical treatment and judgement of prognosis. (authors)

  13. Neurobrucellosis: clinical, diagnostic, therapeutic features and outcome. Unusual clinical presentations in an endemic region

    Nurgul Ceran

    Full Text Available Brucellosis is a zoonotic infection and has endemic characteristics. Neurobrucellosis is an uncommon complication of this infection. The aim of this study was to present unusual clinical manifestations and to discuss the management and outcome of a series of 18 neurobrucellosis cases. Initial clinical manifestations consist of pseudotumor cerebri in one case, white matter lesions and demyelinating syndrome in three cases, intracranial granuloma in one case, transverse myelitis in two cases, sagittal sinus thrombosis in one case, spinal arachnoiditis in one case, intracranial vasculitis in one case, in addition to meningitis in all cases. Eleven patients were male and seven were female. The most prevalent symptoms were headache (83% and fever (44%. All patients were treated with rifampicin, doxycycline plus trimethoprim-sulfamethoxazole or ceftriaxone. Duration of treatment (varied 3-12 months was determined on basis of the CSF response. In four patients presented with left mild sequelae including aphasia, hearing loss, hemiparesis. In conclusion, although mortality is rare in neurobrucellosis, its sequelae are significant. In neurobrucellosis various clinical and neuroradiologic signs and symptoms can be confused with other neurologic diseases. In inhabitants or visitors of endemic areas, neurobrucellosis should be kept in mind in cases that have unusual neurological manifestations.

  14. Risk of Cardiomyopathy in Younger Persons With a Family History of Death from Cardiomyopathy

    Ranthe, Mattis F; Carstensen, Lisbeth; Øyen, Nina

    2015-01-01

    at the population level is unclear. In a nationwide cohort, we examined the risk of cardiomyopathy by family history of premature death (... ascertained family history of premature (... incidence rate ratios for cardiomyopathy by family history of premature death. Premature cardiomyopathy deaths in first- and second-degree relatives were associated with 29- and 6-fold increases in the rate of cardiomyopathy, respectively. If the first-degree relative died aged

  15. Role of cardiac MRI in nonischemic cardiomyopathies.

    Anand, Senthil; Janardhanan, Rajesh

    2016-01-01

    Cardiac magnetic resonance (CMR) with its higher spatial resolution is considered the gold standard for evaluating ventricular mass, volumes, and ejection fraction. CMR can be used for accurate diagnosis of several conditions, especially cardiomyopathies. The purpose of this article is to review the utility of CMR in the diagnosis and management of nonischemic cardiomyopathies. We have reviewed both common and rare types of nonischemic cardiomyopathies in detail and elaborated on the specific CMR findings in each. We believe that CMR is an invaluable tool, not only in differentiating nonischemic from ischemic cardiomyopathy, but also in aiding the accurate diagnosis and management of the subtype of nonischemic cardiomyopathy. CMR should routinely be integrated in the diagnostic workup of various cardiomyopathies. Published by Elsevier B.V.

  16. Role of cardiac MRI in nonischemic cardiomyopathies

    Senthil Anand

    2016-05-01

    Full Text Available Cardiac magnetic resonance (CMR with its higher spatial resolution is considered the gold standard for evaluating ventricular mass, volumes, and ejection fraction. CMR can be used for accurate diagnosis of several conditions, especially cardiomyopathies. The purpose of this article is to review the utility of CMR in the diagnosis and management of nonischemic cardiomyopathies. We have reviewed both common and rare types of nonischemic cardiomyopathies in detail and elaborated on the specific CMR findings in each. We believe that CMR is an invaluable tool, not only in differentiating nonischemic from ischemic cardiomyopathy, but also in aiding the accurate diagnosis and management of the subtype of nonischemic cardiomyopathy. CMR should routinely be integrated in the diagnostic workup of various cardiomyopathies.

  17. The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy.

    Mezghani, Najla; Mnif, Mouna; Mkaouar-Rebai, Emna; Kallel, Nozha; Salem, Ikhlass Haj; Charfi, Nadia; Abid, Mohamed; Fakhfakh, Faiza

    2011-07-29

    Wolfram syndrome (WFS) is a rare hereditary disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). It is a heterogeneous disease and full characterization of all clinical and biological features of this disorder is difficult. The wide spectrum of clinical expression, affecting several organs and tissues, and the similarity in phenotype between patients with Wolfram syndrome and those with certain types of respiratory chain diseases suggests mitochondrial DNA (mtDNA) involvement in Wolfram syndrome patients. We report a Tunisian patient with clinical features of moderate Wolfram syndrome including diabetes, dilated cardiomyopathy and neurological complications. The results showed the presence of the mitochondrial ND1 m.3337G>A mutation in almost homoplasmic form in 3 tested tissues of the proband (blood leukocytes, buccal mucosa and skeletal muscle). In addition, the long-range PCR amplifications revealed the presence of multiple deletions of the mitochondrial DNA extracted from the patient's skeletal muscle removing several tRNA and protein-coding genes. Our study reported a Tunisian patient with clinical features of moderate Wolfram syndrome associated with cardiomyopathy, in whom we detected the ND1 m.3337G>A mutation with mitochondrial multiple deletions. Copyright © 2011 Elsevier Inc. All rights reserved.

  18. Addison's disease due to adrenal tuberculosis: Contrast-enhanced CT features and clinical duration correlation

    Guo Yingkun; Yang Zhigang; Li Yuan; Ma Ensen; Deng Yuping; Min Pengqiu; Yin Longlin; Hu Jian; Zhang Xiaochun; Chen Tianwu

    2007-01-01

    Purpose: To describe CT morphology of untreated adrenal tuberculosis during the different stages of the natural history of the disease and to evaluate the diagnostic implications of CT features. Materials and methods: We retrospectively evaluated CT features in 42 patients with documented adrenal tuberculosis for the location, size, morphology, and enhancement patterns shown on CT images. The clinical duration were correlated with the CT features. Results: Of the 42 patients with untreated adrenal tuberculosis, bilaterally enlarged adrenal glands were revealed in 38 cases (91%), unilaterally enlarged in 3 cases (7%), and normal size in 1 case (2%). Of the 41 cases (98%) with enlargement, mass-like enlargement was seen in 20 cases (49%) and enlargement with preserved contours in 21 cases (51%). Peripheral rim enhancement presented in 22 cases (52%) on contrast-enhanced CT. Non-enhanced CT scan revealed calcification in 21 cases (50%). As the duration of Addison's disease increased, the presence of calcification and contour preservation increased concomitantly (p < 0.001), whereas peripheral rim enhancement and mass-like enlargement decreased concomitantly on CT images (p < 0.001). Conclusion: CT may be helpful in diagnosing adrenal tuberculosis when clinically suspected, and CT features are correlated to the clinical duration of Addison's disease

  19. The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy

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

    2011-07-29

    Highlights: {yields} We reported a patient with Wolfram syndrome and dilated cardiomyopathy. {yields} We detected the ND1 mitochondrial m.3337G>A mutation in 3 tested tissues (blood leukocytes, buccal mucosa and skeletal muscle). {yields} Long-range PCR amplification revealed the presence of multiple mitochondrial deletions in the skeletal muscle. {yields} The deletions remove several tRNA and protein-coding genes. -- Abstract: Wolfram syndrome (WFS) is a rare hereditary disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). It is a heterogeneous disease and full characterization of all clinical and biological features of this disorder is difficult. The wide spectrum of clinical expression, affecting several organs and tissues, and the similarity in phenotype between patients with Wolfram syndrome and those with certain types of respiratory chain diseases suggests mitochondrial DNA (mtDNA) involvement in Wolfram syndrome patients. We report a Tunisian patient with clinical features of moderate Wolfram syndrome including diabetes, dilated cardiomyopathy and neurological complications. The results showed the presence of the mitochondrial ND1 m.3337G>A mutation in almost homoplasmic form in 3 tested tissues of the proband (blood leukocytes, buccal mucosa and skeletal muscle). In addition, the long-range PCR amplifications revealed the presence of multiple deletions of the mitochondrial DNA extracted from the patient's skeletal muscle removing several tRNA and protein-coding genes. Our study reported a Tunisian patient with clinical features of moderate Wolfram syndrome associated with cardiomyopathy, in whom we detected the ND1 m.3337G>A mutation with mitochondrial multiple deletions.

  20. The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy

    Mezghani, Najla; Mnif, Mouna; Mkaouar-Rebai, Emna; Kallel, Nozha; Salem, Ikhlass Haj; Charfi, Nadia; Abid, Mohamed; Fakhfakh, Faiza

    2011-01-01

    Highlights: → We reported a patient with Wolfram syndrome and dilated cardiomyopathy. → We detected the ND1 mitochondrial m.3337G>A mutation in 3 tested tissues (blood leukocytes, buccal mucosa and skeletal muscle). → Long-range PCR amplification revealed the presence of multiple mitochondrial deletions in the skeletal muscle. → The deletions remove several tRNA and protein-coding genes. -- Abstract: Wolfram syndrome (WFS) is a rare hereditary disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). It is a heterogeneous disease and full characterization of all clinical and biological features of this disorder is difficult. The wide spectrum of clinical expression, affecting several organs and tissues, and the similarity in phenotype between patients with Wolfram syndrome and those with certain types of respiratory chain diseases suggests mitochondrial DNA (mtDNA) involvement in Wolfram syndrome patients. We report a Tunisian patient with clinical features of moderate Wolfram syndrome including diabetes, dilated cardiomyopathy and neurological complications. The results showed the presence of the mitochondrial ND1 m.3337G>A mutation in almost homoplasmic form in 3 tested tissues of the proband (blood leukocytes, buccal mucosa and skeletal muscle). In addition, the long-range PCR amplifications revealed the presence of multiple deletions of the mitochondrial DNA extracted from the patient's skeletal muscle removing several tRNA and protein-coding genes. Our study reported a Tunisian patient with clinical features of moderate Wolfram syndrome associated with cardiomyopathy, in whom we detected the ND1 m.3337G>A mutation with mitochondrial multiple deletions.

  1. Cardiovascular magnetic resonance in hypertrophic cardiomyopathy and infiltrative cardiomyopathy

    Schofield, Rebecca; Manacho, Katia; Castelletti, Silvia; Moon, James C.

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Cardiac imaging plays a key role in the diagnosis and management, with cardiovascular magnetic resonance (CMR) an important modality. CMR provides a number of different techniques in one examination: structure and function, flow imaging and tissue characterisation particularly with the late gadolinium enhancement (LGE) technique. Other techniques include vasodilator perfusion, mapping (especially T1 mapping and ex...

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

    Haroon, Muhammad

    2011-02-18

    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.

  3. Clinical report of a 17q12 microdeletion with additionally unreported clinical features.

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

    2014-01-01

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

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

    Jennifer L. Roberts

    2014-01-01

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

  5. The Assessment of Patient Clinical Outcome: Advantages, Models, Features of an Ideal Model

    Mou’ath Hourani

    2016-06-01

    Full Text Available Background: The assessment of patient clinical outcome focuses on measuring various aspects of the health status of a patient who is under healthcare intervention. Patient clinical outcome assessment is a very significant process in the clinical field as it allows health care professionals to better understand the effectiveness of their health care programs and thus for enhancing the health care quality in general. It is thus vital that a high quality, informative review of current issues regarding the assessment of patient clinical outcome should be conducted. Aims & Objectives: 1 Summarizes the advantages of the assessment of patient clinical outcome; 2 reviews some of the existing patient clinical outcome assessment models namely: Simulation, Markov, Bayesian belief networks, Bayesian statistics and Conventional statistics, and Kaplan-Meier analysis models; and 3 demonstrates the desired features that should be fulfilled by a well-established ideal patient clinical outcome assessment model. Material & Methods: An integrative review of the literature has been performed using the Google Scholar to explore the field of patient clinical outcome assessment. Conclusion: This paper will directly support researchers, clinicians and health care professionals in their understanding of developments in the domain of the assessment of patient clinical outcome, thus enabling them to propose ideal assessment models.

  6. The Assessment of Patient Clinical Outcome: Advantages, Models, Features of an Ideal Model

    Mou’ath Hourani

    2016-06-01

    Full Text Available Background: The assessment of patient clinical outcome focuses on measuring various aspects of the health status of a patient who is under healthcare intervention. Patient clinical outcome assessment is a very significant process in the clinical field as it allows health care professionals to better understand the effectiveness of their health care programs and thus for enhancing the health care quality in general. It is thus vital that a high quality, informative review of current issues regarding the assessment of patient clinical outcome should be conducted. Aims & Objectives: 1 Summarizes the advantages of the assessment of patient clinical outcome; 2 reviews some of the existing patient clinical outcome assessment models namely: Simulation, Markov, Bayesian belief networks, Bayesian statistics and Conventional statistics, and Kaplan-Meier analysis models; and 3 demonstrates the desired features that should be fulfilled by a well-established ideal patient clinical outcome assessment model. Material & Methods: An integrative review of the literature has been performed using the Google Scholar to explore the field of patient clinical outcome assessment. Conclusion: This paper will directly support researchers, clinicians and health care professionals in their understanding of developments in the domain of the assessment of patient clinical outcome, thus enabling them to propose ideal assessment models.

  7. The impact of educational status on the clinical features of major depressive disorder among Chinese women

    Gan, Zhaoyu; Li, Yihan; Xie, Dong; Shao, Chunhong; Yang, Fuzhong; Shen, Yuan; Zhang, Ning; Zhang, Guanghua; Tian, Tian; Yin, Aihua; Chen, Ce; Liu, Jun; Tang, Chunling; Zhang, Zhuoqiu; Liu, Jia; Sang, Wenhua; Wang, Xumei; Liu, Tiebang; Wei, Qinling; Xu, Yong; Sun, Ling; Wang, Sisi; Li, Chang; Hu, Chunmei; Cui, Yanping; Liu, Ying; Li, Ying; Zhao, Xiaochuan; Zhang, Lan; Sun, Lixin; Chen, Yunchun; Zhang, Yueying; Ning, Yuping; Shi, Shenxun; Chen, Yiping; Kendler, Kenneth S.; Flint, Jonathan; Zhang, Jinbei

    2012-01-01

    Background Years of education are inversely related to the prevalence of major depressive disorder (MDD), but the relationship between the clinical features of MDD and educational status is poorly understood. We investigated this in 1970 Chinese women with recurrent MDD identified in a clinical setting. Methods Clinical and demographic features were obtained from 1970 Han Chinese women with DSM-IV major depression between 30 and 60 years of age across China. Analysis of linear, logistic and multiple logistic regression models were used to determine the association between educational level and clinical features of MDD. Results Subjects with more years of education are more likely to have MDD, with an odds ratio of 1.14 for those with more than ten years. Low educational status is not associated with an increase in the number of episodes, nor with increased rates of co-morbidity with anxiety disorders. Education impacts differentially on the symptoms of depression: lower educational attainment is associated with more biological symptoms and increased suicidal ideation and plans to commit suicide. Limitations Findings may not generalize to males or to other patient populations. Since the threshold for treatment seeking differs as a function of education there may an ascertainment bias in the sample. Conclusions The relationship between symptoms of MDD and educational status in Chinese women is unexpectedly complex. Our findings are inconsistent with the simple hypothesis from European and US reports that low levels of educational attainment increase the risk and severity of MDD. PMID:21824664

  8. Acne severity grading: determining essential clinical components and features using a Delphi consensus.

    Tan, Jerry; Wolfe, Barat; Weiss, Jonathan; Stein-Gold, Linda; Bikowski, Joseph; Del Rosso, James; Webster, Guy F; Lucky, Anne; Thiboutot, Diane; Wilkin, Jonathan; Leyden, James; Chren, Mary-Margaret

    2012-08-01

    There are multiple global scales for acne severity grading but no singular standard. Our objective was to determine the essential clinical components (content items) and features (property-related items) for an acne global grading scale for use in research and clinical practice using an iterative method, the Delphi process. Ten acne experts were invited to participate in a Web-based Delphi survey comprising 3 iterative rounds of questions. In round 1, the experts identified the following clinical components (primary acne lesions, number of lesions, extent, regional involvement, secondary lesions, and patient experiences) and features (clinimetric properties, ease of use, categorization of severity based on photographs or text, and acceptance by all stakeholders). In round 2, consensus for inclusion in the scale was established for primary lesions, number, sites, and extent; as well as clinimetric properties and ease of use. In round 3, consensus for inclusion was further established for categorization and acceptance. Patient experiences were excluded and no consensus was achieved for secondary lesions. The Delphi panel consisted solely of the United States (U.S.)-based acne experts. Using an established method for achieving consensus, experts in acne vulgaris concluded that an ideal acne global grading scale would comprise the essential clinical components of primary acne lesions, their quantity, extent, and facial and extrafacial sites of involvement; with features of clinimetric properties, categorization, efficiency, and acceptance. Copyright © 2011 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  9. The impact of educational status on the clinical features of major depressive disorder among Chinese women.

    Gan, Zhaoyu; Li, Yihan; Xie, Dong; Shao, Chunhong; Yang, Fuzhong; Shen, Yuan; Zhang, Ning; Zhang, Guanghua; Tian, Tian; Yin, Aihua; Chen, Ce; Liu, Jun; Tang, Chunling; Zhang, Zhuoqiu; Liu, Jia; Sang, Wenhua; Wang, Xumei; Liu, Tiebang; Wei, Qinling; Xu, Yong; Sun, Ling; Wang, Sisi; Li, Chang; Hu, Chunmei; Cui, Yanping; Liu, Ying; Li, Ying; Zhao, Xiaochuan; Zhang, Lan; Sun, Lixin; Chen, Yunchun; Zhang, Yueying; Ning, Yuping; Shi, Shenxun; Chen, Yiping; Kendler, Kenneth S; Flint, Jonathan; Zhang, Jinbei

    2012-02-01

    Years of education are inversely related to the prevalence of major depressive disorder (MDD), but the relationship between the clinical features of MDD and educational status is poorly understood. We investigated this in 1970 Chinese women with recurrent MDD identified in a clinical setting. Clinical and demographic features were obtained from 1970 Han Chinese women with DSM-IV major depression between 30 and 60 years of age across China. Analysis of linear, logistic and multiple logistic regression models were used to determine the association between educational level and clinical features of MDD. Subjects with more years of education are more likely to have MDD, with an odds ratio of 1.14 for those with more than ten years. Low educational status is not associated with an increase in the number of episodes, nor with increased rates of co-morbidity with anxiety disorders. Education impacts differentially on the symptoms of depression: lower educational attainment is associated with more biological symptoms and increased suicidal ideation and plans to commit suicide. Findings may not generalize to males or to other patient populations. Since the threshold for treatment seeking differs as a function of education there may an ascertainment bias in the sample. The relationship between symptoms of MDD and educational status in Chinese women is unexpectedly complex. Our findings are inconsistent with the simple hypothesis from European and US reports that low levels of educational attainment increase the risk and severity of MDD. Copyright © 2011 Elsevier B.V. All rights reserved.

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

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

    2013-01-01

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

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

    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

  12. [Spongy cardiomyopathy in an elderly woman. Echocardiographic description].

    Canale, Jesús; Cortés Lawrenz, Jorge; Moreno Valenzuela, Francisco Germán

    2005-01-01

    Isolated left ventricular noncompaction, also known as spongy myocardium or spongy cardiomyopathy, is a recently described congenital disease caused by an arrest in the left ventricular myocardial embriogenesis that makes the ventricular wall to persist thickened with multiple trabecular formations and deep sinusoidal recesses. It is clinically characterized by heart failure, cardiac arrhythmia and systemic embolic events. Most of the affected subjects are detected during childhood or adolescence, others in the adult life but very few elderly patients have been reported in the worldwide medical literature. We here report the case of a 75-year-old woman that is one of the oldest patients ever reported, whose clinical picture and echocardiographic findings are typical of this modality of cardiomyopathy. We do comments on this case in regard to the most relevant facts that appear in the limited medical literature about this interesting disease.

  13. Cardiomyopathies as a Cause of Sudden Cardiac Death (SCD in Egypt: Recognition and Preventive Strategies Needed

    Nora Fnon

    2016-06-01

    Full Text Available This study aimed at evaluating the epidemiological characteristics and pathological features of different types of cardiomyopathies in Egypt, highlighting the role of the forensic pathologist in identifying cases of cardiomyopathies and initiating for their families a possible genetic study aiming at prevention of sudden death. All cases with sudden cardiac death (SCD due to cardiomyopathies during the period from the beginning of January 2010 until the end of December 2014 (5 years were included in this study. All hearts underwent detailed gross and histological examination. Circumstances of death, medical history, and post-mortem pathological findings were thoroughly  investigated. Out of 535 cases of sudden cardiac death, there were 22 cases (4.1% diagnosed as having cardiomyopathies; sudden death was their first presentation. Eighteen cases (81.8% were male, with the 4th decade (11 cases, 50% being the most affected age; severe physical activity and exertion were evident in death circumstances of 14 cases (63.6%; pathological evaluation revealed that hypertrophic cardiomyopathy was the most frequent type, being diagnosed in 10 cases (45%. Cardiomyopathies are an infrequent cause of sudden cardiac death. Most deaths are in children and adults, so cases are of high social impact that demands multidisciplinary research and resources. In all cases of SCD, forensic autopsy should be done. Forensic study is the key to identifying an affected family and the starting point regarding assessing them.

  14. Dilated cardiomyopathy in cats - A case report

    K. Jeyaraja

    2013-08-01

    Full Text Available Two cats were brought to Madras Veterinary College Teaching Hospital with the history and clinical signs suggestive of congestive heart failure ie, coughing, exercise intolerance, dyspnea, abdominal distension etc. There was history of feeding the cat with home made diet in one case and in other with commercial dog food. Based on electrocardiographic, radiographic and echocardiographic findings, the diagnosis of dilated cardiomyopathy was done in both the cases. The cases were managed with enalapril maleate, furosemide, dietary taurine supplementation and other supportive therapy. Among these two cases, one cat died on 2nd day of treatment and the other showed recovery after 8 days of treatment. [Vet World 2013; 6(4.000: 226-227

  15. Genetics of Human and Canine Dilated Cardiomyopathy

    Siobhan Simpson

    2015-01-01

    Full Text Available Cardiovascular disease is a leading cause of death in both humans and dogs. Dilated cardiomyopathy (DCM accounts for a large number of these cases, reported to be the third most common form of cardiac disease in humans and the second most common in dogs. In human studies of DCM there are more than 50 genetic loci associated with the disease. Despite canine DCM having similar disease progression to human DCM studies into the genetic basis of canine DCM lag far behind those of human DCM. In this review the aetiology, epidemiology, and clinical characteristics of canine DCM are examined, along with highlighting possible different subtypes of canine DCM and their potential relevance to human DCM. Finally the current position of genetic research into canine and human DCM, including the genetic loci, is identified and the reasons many studies may have failed to find a genetic association with canine DCM are reviewed.

  16. Genetics of Human and Canine Dilated Cardiomyopathy.

    Simpson, Siobhan; Edwards, Jennifer; Ferguson-Mignan, Thomas F N; Cobb, Malcolm; Mongan, Nigel P; Rutland, Catrin S

    2015-01-01

    Cardiovascular disease is a leading cause of death in both humans and dogs. Dilated cardiomyopathy (DCM) accounts for a large number of these cases, reported to be the third most common form of cardiac disease in humans and the second most common in dogs. In human studies of DCM there are more than 50 genetic loci associated with the disease. Despite canine DCM having similar disease progression to human DCM studies into the genetic basis of canine DCM lag far behind those of human DCM. In this review the aetiology, epidemiology, and clinical characteristics of canine DCM are examined, along with highlighting possible different subtypes of canine DCM and their potential relevance to human DCM. Finally the current position of genetic research into canine and human DCM, including the genetic loci, is identified and the reasons many studies may have failed to find a genetic association with canine DCM are reviewed.

  17. Superior vena thrombosis with peripartum dilated cardiomyopathy

    Munir, R.; Hussain, S.; Kayani, A.M.

    2014-01-01

    A 30 years multiparous female with history of emergency caesarean section 10 days back was referred to us with cough, severe breathlessness at rest, orthopnea with pain in neck and arms. Clinical examination revealed signs of heart failure. Echocardiography showed ejection fraction of 15%, with no right ventricular strain. A diagnosis of peripartum cardiomyopathy was made. Doppler ultrasound of neck veins showed bilateral internal jugular vein thrombosis. Subsequent multislice CT examination showed thrombosis of superior vena cava and both internal jugular veins (with collateral formation) and pulmonary embolism. There were no mediastinal abnormalities on the CT scan. Her thrombophilia screen and CT scan brain was normal. She was managed in collaboration with cardiologist. Following treatment with subcutaneous enoxaparin therapy and warfarin her symptoms of upper limb pain improved. She responded very well to medical therapy for heart failure with marked improvement of NYHA functional class. (author)

  18. Late-onset Becker muscular dystrophy: Refining the clinical features and electrophysiological findings.

    Beltran Papsdorf, Tania; Howard, James F; Chahin, Nizar

    2015-11-01

    The aim of this study was to characterize a unique distribution of muscle involvement in sporadic Becker muscle dystrophy (BMD). Retrospective chart review, clinical examination, electrophysiological studies, cardiac testing, and genetic testing were performed in 5 patients. Predominant weakness and atrophy of biceps brachii, hip adduction, and quadriceps muscles was noted along with calf and extensor forearm hypertrophy. Finger flexor muscles were severely weak in 3 of 5 patients, a feature that could lead to a misdiagnosis of inclusion body myositis. Creatinine kinase was only mildly elevated in most patients. Electromyography was abnormal in all patients. Muscle biopsy in 1 patient demonstrated normal immunostaining for dystrophin. We found a unique and uniform distribution of muscle involvement in 5 sporadic cases of BMD. Recognizing these features is important for differentiating it from other myopathies that may have similar features and avoids unnecessary invasive procedures such as muscle biopsy. © 2015 Wiley Periodicals, Inc.

  19. Differences in clinical features according to Boryoung and Karp genotypes of Orientia tsutsugamushi.

    Dong-Min Kim

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

  20. Clinical, biological, histological features and treatment of oral mucositis induced by radiation therapy: a literature review

    Bonan, Paulo Rogerio Ferreti; Lopes, Marcio Ajudarte; Almeida, Oslei Paes de; Alves, Fabio de Abreu

    2005-01-01

    The oral mucositis is a main side effect of radiotherapy on head and neck, initiating two weeks after the beginning of the treatment. It is characterized by sensation of local burning to intense pain, leading in several cases, to the interruption of the treatment. The purpose of this work is to review the main published studies that discuss the clinical, biological and histopathological features of oral mucositis induced by radiation therapy and to describe the main approaches recommended to prevent or to treat it. Although the clinical features of mucositis are intensively described in the literature, few studies address the histopathological alterations in oral mucositis and only recently, its biological processes have been investigated. The biological mechanisms involved in the radiation tissue damage have been only recently discussed and there is no consensus among treatment modalities. Yet, the progressive knowledge in the histopathology and biological characteristics of oral mucositis probably will lead to more effective in prevention and control strategies. (author)