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Sample records for syndrome clinical implication

  1. [Clinical implications of polycystic ovary syndrome].

    Science.gov (United States)

    Dravecká, Ingrid

    Polycystic ovary syndrome (PCOS) is a heterogeneous and complex endocrine disease which among the female population belongs to the most widespread endocrinopathies and it is the most frequent cause of hyperthyroidism, anticoagulation and infertility. Insulin resistance is one of the important diabetology factors impacting hyperglycaemia in a majority of women with PCOS (60-80 %). Clinical expressions of PCOS include reproduction disorders, metabolic characteristics and psychological implications. Reproduction disorders include hyperthyroidism, menstruation cycle disorders, infertility and pregnancy complications as well as early abortions, gestational diabetes and pregnancy induced hypertension. Long-term metabolic risks of PCOS include type 2 diabetes mellitus, dyslipidemia, arterial hypertension and endothelial dysfunction. The available data confirms higher incidence of cardiovascular diseases in women with PCOS. In particular among obese women PCOS is more frequently associated with non-alcoholic hepatic steatosis, sleep apnoea syndrome and endometrial cancer. The literature includes some controversial data about the relationship between PCOS and autoimmunity. Women with PCOS are more prone to suffer from insufficient confidence with higher incidence of anxiety, depression, bipolar disorder and eating disorders. autoimmunity - diabetes mellitus - pregnancy - insulin resistance - metabolic syndrome - menstrual disorders - polycystic ovary syndrome.

  2. The changing face of Usher syndrome: clinical implications.

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    Cohen, Mazal; Bitner-Glindzicz, Maria; Luxon, Linda

    2007-02-01

    Usher syndrome is both genetically and phenotypically heterogeneous. Traditionally, the condition has been classified into three clinical types, differentiated by the severity and progression of the hearing impairment and by the presence or absence of vestibular symptoms. Recent advances in molecular genetics have enabled researchers to study the phenotypic expression in confirmed molecular groups of Usher. In response to the expansion of clinical and genetic information on Usher, we report an up to date review of the different clinical forms of Usher in known molecular groups and use the emerging evidence to appraise the diagnostic utility of the traditional classification of Usher. Our findings undermine the traditional view that the clinical types of Usher have distinct genetic causes. The pleiotropic effects of some of the major causes of Usher lead to considerable overlap between the different clinical types, with very little evidence for phenotypic-genotypic correlations. The novel synthesis emerging from this review suggests more productive approaches to the diagnosis of Usher in hearing-impaired children which would provide more accurate prognostic information to families.

  3. [Adipocytokines and metabolic syndrome--molecular mechanism and clinical implication].

    Science.gov (United States)

    Matsuda, Morihiro; Shimomura, Iichiro

    2004-06-01

    Recent progress in adipocyte-biology shows that adipocytes are not merely fat-storing cells but that they secrete a variety of hormones, cytekines, growth factors and other bioactive substabces, conceptualized as adipocytokines. These include plasminogen activator inhibitor 1(PAI-1), tumor necrosis factor(TNF-alpha), leptin and adiponectin. Dysregulated productions of these adipocytekines participate in the pathogenesis of obesity-associated metabolic syndrome such as insulin resistance, type 2 diabetes, hyperlipidemia, and vascular diseases. Increased productions of PAI-1 and TNF-alpha from accumulated fat contribute to the formation of thrombosis and insulin resistance in obesity, respectively. Lack of leptin causes metabolic syndrome. Adiponectin exerts insulin-sensitizing and anti-atherogenic effects, hence decrease of plasma adiponectin is causative for insulin resistance and atherosclerosis in obesity.

  4. Normal-weight obesity syndrome: diagnosis, prevalence, and clinical implications.

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    Franco, Lana P; Morais, Carla C; Cominetti, Cristiane

    2016-09-01

    The growing concern about the impact of overweight on health has led to studies that shed light on types of obesity other than the classic model based on body mass index. Normal-weight obesity syndrome is characterized by excess body fat in individuals with adequate body mass index (18.5-24.9 kg/m(2)). This condition increases the risk of cardiovascular morbidity and mortality and other conditions associated with chronic diseases, such as insulin resistance, hypertension, and dyslipidemia. The aims of this review are to define the diagnostic criteria for normal-weight obesity syndrome and to examine the risks associated with this condition in order to promote preventive measures and early treatment for affected individuals. © The Author(s) 2016. Published by Oxford University Press on behalf of the International Life Sciences Institute. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  5. [Network clusters of symptoms as elementary syndromes of psychopathology: implications for clinical practice].

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    Goekoop, R; Goekoop, J G

    2016-01-01

    In a recent publication we reported the existence of around 11 (to 15) 'elementary syndromes' that may combine in various ways, rather like 'building blocks', to explain the wide range of psychiatric symptoms. 'Bridge symptoms' seem to be responsible both for combining large sets of symptoms into elementary syndromes and for combining the various elementary syndromes to form one globally connected network structure. To discuss the implication of these findings for clinical practice. We performed a network analysis of symptom scores. Elementary syndromes provide a massive simplification of the description of psychiatric disease. Instead of the more than 300 categories in DSM-5, we now need to consider only a handful of elementary syndromes and personality domains. This modular representation of psychiatric illnesses allows us to make a complete, systematic and efficient assessment of patients and a systematic review of treatment options. Clinicians, patients, managerial staff and insurance companies can verify whether symptom reduction is taking place in the most important domains of psychopathology. Unlike classic multidimensional methods of disease description, network models of psychopathology can be used to explain comorbidity patterns, predict the clinical course of psychopathology and to designate primary targets for therapeutic interventions. A network view on psychopathology could significantly improve everyday clinical practice.

  6. Recent Clinical Drug Trials Evidence in Marfan Syndrome and Clinical Implications.

    Science.gov (United States)

    Singh, Michael N; Lacro, Ronald V

    2016-01-01

    Marfan syndrome is a genetic disorder of connective tissue with principal manifestations in the cardiovascular, ocular, and skeletal systems. Cardiovascular disease, mainly progressive aortic root dilation and aortic dissection, is the leading cause of morbidity and mortality. The primary aims of this report were to examine the evidence related to medical therapy for Marfan syndrome, including recently completed randomized clinical trials on the efficacy of β-blockers and angiotensin II receptor blockers for the prophylactic treatment of aortic enlargement in Marfan syndrome, and to provide recommendations for medical therapy on the basis of available evidence. Medical therapy for Marfan syndrome should be individualized according to patient tolerance and risk factors such as age, aortic size, and family history of aortic dissection. The Pediatric Heart Network trial showed that atenolol and losartan each reduced the rate of aortic dilation. All patients with known or suspected Marfan syndrome and aortic root dilation should receive medical therapy with adequate doses of either β-blocker or angiotensin receptor blocker. The Pediatric Heart Network trial also showed that atenolol and losartan are more effective at reduction of aortic root z score in younger subjects, which suggests that medical therapy should be prescribed even in the youngest children with aortic dilation. For patients with Marfan syndrome without aortic dilation, the available evidence is less clear. If aortic dilation is severe and/or progressive, therapy with a combination of β-blocker and angiotensin receptor blocker should be considered, although trial results are mixed with respect to the efficacy of combination therapy vs monotherapy. Copyright © 2016 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  7. Clinical picture and treatment implication in a child with Capgras syndrome: a case report.

    Science.gov (United States)

    Mazzone, Luigi; Armando, Marco; De Crescenzo, Franco; Demaria, Francesco; Valeri, Giovanni; Vicari, Stefano

    2012-11-27

    Capgras syndrome is a delusional misidentification syndrome characterized by the patient's belief that his or her relatives have been replaced by impostors. Here we describe the clinical picture and the therapeutic approach to an 11-year-old Caucasian girl with Capgras syndrome. A complete psychopathological assessment was conducted during the acute phase, at one month, two months and six months since diagnosis. Subsequent follow-up evaluations in this patient allowed us to detect improvements in the psychotic symptoms following treatment with risperidone and selective serotonin reuptake inhibitors, suggesting that this combined therapy may significantly improve the clinical outcome in patients who have Capgras syndrome.

  8. Clinical picture and treatment implication in a child with Capgras syndrome: a case report

    OpenAIRE

    Mazzone, Luigi; Armando, Marco; De Crescenzo, Franco; Demaria, Francesco; Valeri, Giovanni; Vicari, Stefano

    2012-01-01

    Abstract Introduction Capgras syndrome is a delusional misidentification syndrome characterized by the patient’s belief that his or her relatives have been replaced by impostors. Case presentation Here we describe the clinical picture and the therapeutic approach to an 11-year-old Caucasian girl with Capgras syndrome. A complete psychopathological assessment was conducted during the acute phase, at one month, two months and six months since diagnosis. Conclusion Subsequent follow-up evaluatio...

  9. Adiposity measurements in association with metabolic syndrome in older men have different clinical implications.

    Science.gov (United States)

    Hsu, Chun-Hsien; Lin, Jiunn-Diann; Hsieh, Chang-Hsun; Lau, Shu Chuen; Chiang, Wei-Yong; Chen, Yen-Lin; Pei, Dee; Chang, Jin-Biou

    2014-03-01

    Obesity is a major public health problem, and measuring adiposity accurately and predicting its future comorbidities are important issues. Therefore, we hypothesized that 4 adiposity measurements, body mass index (BMI), waist circumference (WC), waist-to-height ratio, and body fat percentage, have different physiological meanings and distinct associations with adverse health consequences. This study aimed to investigate the relationship of these 4 measurements with metabolic syndrome (MetS) components and identify the most associated factor for MetS occurrence in older, non-medicated men. Cross-sectional data from 3004 men, all 65 years of age and older, were analyzed. The correlation and association between adiposity measurements and MetS components were evaluated by Pearson correlation and multiple linear regression. Based on multivariate logistic regression, BMI and WC were significantly associated with MetS and were selected to build a combined model of receiver operating characteristic curves to increase the diagnosis accuracy for MetS. The results show that BMI is independently associated with systolic and diastolic blood pressure; WC and body fat percentage are associated with fasting plasma glucose and log transformation of triglyceride; BMI and WC are negatively associated with high-density lipoprotein cholesterol (HDL-C); and WC is a better discriminate for MetS than BMI, although the combined model (WC + BMI) is not significantly better than WC alone. Based on these results, we conclude that the 4 adiposity measurements have different clinical implications. Thus, in older men, BMI is an important determinant for blood pressure and HDL-C. Waist circumference is associated with the risk of fasting plasma glucose, HDL-C, triglyceride, and MetS occurrence. The combined model did not increase the diagnosis accuracy. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

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    Kato, Fumiko; Hamajima, Takashi; Hasegawa, Tomonobu; Amano, Naoko; Horikawa, Reiko; Nishimura, Gen; Nakashima, Shinichi; Fuke, Tomoko; Sano, Shinichirou; Fukami, Maki; Ogata, Tsutomu

    2014-05-01

    Arboleda et al. have recently shown that IMAGe (intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital abnormalities) syndrome is caused by gain-of-function mutations of maternally expressed gene CDKN1C on chromosome 11p15.5. However, there is no other report describing clinical findings in patients with molecularly studied IMAGe syndrome. Here, we report clinical and molecular findings in Japanese patients. We studied a 46,XX patient aged 8·5 years (case 1) and two 46,XY patients aged 16·5 and 15·0 years (cases 2 and 3). Clinical studies revealed not only IMAGe syndrome-compatible phenotypes in cases 1-3, but also hitherto undescribed findings including relative macrocephaly and apparently normal pituitary-gonadal endocrine function in cases 1-3, familial glucocorticoid deficiency (FGD)-like adrenal phenotype and the history of oligohydramnios in case 2, and arachnodactyly in case 3. Sequence analysis of CDKN1C, pyrosequencing-based methylation analysis of KvDMR1 and high-density oligonucleotide array comparative genome hybridization analysis for chromosome 11p15.5 were performed, showing an identical de novo and maternally inherited CDKN1C gain-of-function mutation (p.Asp274Asn) in cases 1 and 2, respectively, and no demonstrable abnormality in case 3. The results of cases 1 and 2 with CDKN1C mutation would argue the following: [1] relative macrocephaly is consistent with maternal expression of CDKN1C in most tissues and biparental expression of CDKN1C in the foetal brain; [2] FGD-like phenotype can result from CDKN1C mutation; and [3] genital abnormalities may primarily be ascribed to placental dysfunction. Furthermore, lack of CDKN1C mutation in case 3 implies genetic heterogeneity in IMAGe syndrome. © 2013 John Wiley & Sons Ltd.

  11. Obstetrical Antiphospholipid Syndrome: From the Pathogenesis to the Clinical and Therapeutic Implications

    Directory of Open Access Journals (Sweden)

    T. Marchetti

    2013-01-01

    Full Text Available Antiphospholipid syndrome (APS is an acquired thrombophilia with clinical manifestations associated with the presence of antiphospholipid antibodies (aPL in patient plasma. Obstetrical APS is a complex entity that may affect both mother and fetus throughout the entire pregnancy with high morbidity. Clinical complications are as various as recurrent fetal losses, stillbirth, intrauterine growth restriction (IUGR, and preeclampsia. Pathogenesis of aPL targets trophoblastic cells directly, mainly via proapoptotic, proinflammatory mechanisms, and uncontrolled immunomodulatory responses. Actual first-line treatment is limited to low-dose aspirin (LDA and low-molecular weight heparin (LMWH and still failed in 30% of the cases. APS pregnancies should be a major field in obstetrical research, and new therapeutics are still in progress.

  12. Obstetrical Antiphospholipid Syndrome: From the Pathogenesis to the Clinical and Therapeutic Implications

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    Marchetti, T.; Cohen, M.; de Moerloose, P.

    2013-01-01

    Antiphospholipid syndrome (APS) is an acquired thrombophilia with clinical manifestations associated with the presence of antiphospholipid antibodies (aPL) in patient plasma. Obstetrical APS is a complex entity that may affect both mother and fetus throughout the entire pregnancy with high morbidity. Clinical complications are as various as recurrent fetal losses, stillbirth, intrauterine growth restriction (IUGR), and preeclampsia. Pathogenesis of aPL targets trophoblastic cells directly, mainly via proapoptotic, proinflammatory mechanisms, and uncontrolled immunomodulatory responses. Actual first-line treatment is limited to low-dose aspirin (LDA) and low-molecular weight heparin (LMWH) and still failed in 30% of the cases. APS pregnancies should be a major field in obstetrical research, and new therapeutics are still in progress. PMID:23983765

  13. Clinical implications of somatic mutations in aplastic anemia and myelodysplastic syndrome in genomic age.

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    Maciejewski, Jaroslaw P; Balasubramanian, Suresh K

    2017-12-08

    Recent technological advances in genomics have led to the discovery of new somatic mutations and have brought deeper insights into clonal diversity. This discovery has changed not only the understanding of disease mechanisms but also the diagnostics and clinical management of bone marrow failure. The clinical applications of genomics include enhancement of current prognostic schemas, prediction of sensitivity or refractoriness to treatments, and conceptualization and selective application of targeted therapies. However, beyond these traditional clinical aspects, complex hierarchical clonal architecture has been uncovered and linked to the current concepts of leukemogenesis and stem cell biology. Detection of clonal mutations, otherwise typical of myelodysplastic syndrome, in the course of aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria has led to new pathogenic concepts in these conditions and created a new link between AA and its clonal complications, such as post-AA and paroxysmal nocturnal hemoglobinuria. Distinctions among founder vs subclonal mutations, types of clonal evolution (linear or branching), and biological features of individual mutations (sweeping, persistent, or vanishing) will allow for better predictions of the biologic impact they impart in individual cases. As clonal markers, mutations can be used for monitoring clonal dynamics of the stem cell compartment during physiologic aging, disease processes, and leukemic evolution. © 2016 by The American Society of Hematology. All rights reserved.

  14. The distribution of clinical phenotypes of preterm birth syndrome: implications for prevention.

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    Barros, Fernando C; Papageorghiou, Aris T; Victora, Cesar G; Noble, Julia A; Pang, Ruyan; Iams, Jay; Cheikh Ismail, Leila; Goldenberg, Robert L; Lambert, Ann; Kramer, Michael S; Carvalho, Maria; Conde-Agudelo, Agustin; Jaffer, Yasmin A; Bertino, Enrico; Gravett, Michael G; Altman, Doug G; Ohuma, Eric O; Purwar, Manorama; Frederick, Ihunnaya O; Bhutta, Zulfiqar A; Kennedy, Stephen H; Villar, José

    2015-03-01

    Preterm birth has been difficult to study and prevent because of its complex syndromic nature. To identify phenotypes of preterm delivery syndrome in the Newborn Cross-Sectional Study of the INTERGROWTH-21st Project. A population-based, multiethnic, cross-sectional study conducted at 8 geographically demarcated sites in Brazil, China, India, Italy, Kenya, Oman, the United Kingdom, and the United States. A total of 60,058 births over a 12-month fixed period between April 27, 2009, and March 2, 2014. Of these, 53,871 had an ultrasonography estimate of gestational age, among which 5828 were preterm births (10.8%). Pregnancies were prospectively studied using a standardized data collection and online data management system. Newborns had anthropometric and clinical examinations using standardized methods and identical equipment and were followed up until hospital discharge. The main study outcomes were clusters of preterm phenotypes and for each cluster, we analyzed signs of presentation at hospital admission, admission rates for neonatal intensive care for 7 days or more, and neonatal mortality rates. Twelve preterm birth clusters were identified using our conceptual framework. Eleven consisted of combinations of conditions known to be associated with preterm birth, 10 of which were dominated by a single condition. However, the most common single cluster (30.0% of the total preterm cases; n = 1747) was not associated with any severe maternal, fetal, or placental condition that was clinically detectable based on the information available; within this cluster, many cases were caregiver initiated. Only 22% (n = 1284) of all the preterm births occurred spontaneously without any of these severe conditions. Maternal presentation on hospital admission, newborn anthropometry, and risk for death before hospital discharge or admission for 7 or more days to a neonatal intensive care unit, none of which were used to construct the clusters, also differed according to the identified

  15. The genetic basis of Lynch syndrome and its implications for clinical practice and risk management

    Science.gov (United States)

    Cohen, Stephanie A; Leininger, Anna

    2014-01-01

    Lynch syndrome is the most common cause of hereditary colon cancer, and accounts for as much as 3% of all colon and endometrial cancers. The identification and management of individuals with Lynch syndrome have evolved over the past 20 years, yet the syndrome remains vastly underdiagnosed. It is important for clinicians to recognize individuals and families who are at risk in order to be able to manage them appropriately and reduce their morbidity and mortality from this condition. This review will touch on the history of Lynch syndrome, the current knowledge of genotype–phenotype correlations, the cancers associated with Lynch syndrome, and management of individuals who are gene carriers. PMID:25161364

  16. The concept of incomplete fibromyalgia syndrome: comparison of incomplete fibromyalgia syndrome with fibromyalgia syndrome by 1990 ACR classification criteria and its implications for newer criteria and clinical practice.

    Science.gov (United States)

    Yunus, Muhammad B; Aldag, Jean C

    2012-03-01

    The 1990 American College of Rheumatology (ACR) classification criteria for fibromyalgia/fibromyalgia syndrome (FMS) has 2 components: (a) widespread pain (WSP) and (b) presence of 11 or more tender points (TP) among possible 18 sites. Some clinic patients fulfill 1 component but not the other. We have considered these patients to have incomplete FMS (IFMS). The purpose of this study was to examine the clinical and psychological differences between IFMS and FMS (by 1990 ACR criteria) because such comparison may be helpful to diagnose patients in the clinic. Six hundred consecutive patients referred to our rheumatology clinic with a diagnosis of FMS were examined by a standard protocol to determine whether they fulfilled the 1990 criteria for FMS. Both IFMS and FMS groups were compared in demographic, clinical, and psychological variables using appropriate statistical methods. One hundred twelve (18.7%) patients did not satisfy the 1990 ACR criteria and were classified as IFMS. Symptoms in IFMS and FMS were similar, generally with less frequent and less severe symptoms in the IFMS group. In IFMS, no significant difference was found among the WSP and TP component subgroups. Both TP and WSP were correlated with important features of FMS. Fulfillment of the ACR 1990 criteria is not necessary for a diagnosis of FMS in the clinic. For diagnosis and management of FMS in the clinical setting, IFMS patients, along with consideration of the total clinical picture, may be considered to have FMS, albeit generally mild.

  17. Bone lesions in Chinese POEMS syndrome patients: imaging characteristics and clinical implications.

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    Wang, Fengdan; Huang, Xufei; Zhang, Yan; Li, Jian; Zhou, Daobin; Jin, Zhengyu

    2016-01-01

    Objective. Bone lesion is crucial for diagnosing and management of polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin change (POEMS) syndrome, a rare plasma cell disorder. This study is to compare the effectiveness of X-ray skeletal survey (SS) and computed tomography (CT) for detecting bone lesions in Chinese POEMS syndrome patients, and to investigate the relationship between bone lesion features and serum markers. Methods. SS and chest/abdomen/pelvic CT images of 38 Chinese patients (26 males, 12 females, aged 21-70 years) with POEMS syndrome recruited at our medical center between January 2013 and January 2015 were retrospectively analyzed. Bone lesions identified by CT were further categorized according to the size (10 mm) and appearance (osteosclerotic, lytic, mixed). The percentage of plasma cells in bone marrow smears, type of immunoglobulin, platelet (Plt), and levels of serum bone metabolic markers and inflammatory factors including alkaline phosphatase (ALP), calcium, phosphate, parathyroid hormone (PTH), beta-isomerized C-telopeptide (β-CTx), vascular endothelial growth factor (VEGF), and interleukin (IL)-6 levels were also recorded. Results. Of the 38 POEMS syndrome patients, the immunoglobulin heavy chain isotypes were IgA in 25 patients (65.8%; 25/38) and IgG in 13 patients (34.2%; 13/38), and the light chain isotypes were λ in 35 patients (92.1%; 35/38) and κ in 3 patients (7.9%; 3/38). There were 23 patients with thrombocytosis. More patients with bone lesions were detected by CT than by SS (97.4% vs. 86.8%). The most commonly affected location was the pelvis (89.5%), followed by the spine, clavicle/scapula/sternum/ribs, skull, and long bones. Of the 38 POEMS syndrome patients, 35 (94.6%) had osteosclerotic and 32 (86.5%) had mixed lesions. Osteosclerotic lesions were typically scattered, variable in size, and plaque-like, whereas mixed lesions were pouch-shaped or soup bubble-like with a clear sclerotic margin and were

  18. Bone lesions in Chinese POEMS syndrome patients: imaging characteristics and clinical implications

    Directory of Open Access Journals (Sweden)

    Fengdan Wang

    2016-08-01

    Full Text Available Objective. Bone lesion is crucial for diagnosing and management of polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin change (POEMS syndrome, a rare plasma cell disorder. This study is to compare the effectiveness of X-ray skeletal survey (SS and computed tomography (CT for detecting bone lesions in Chinese POEMS syndrome patients, and to investigate the relationship between bone lesion features and serum markers. Methods. SS and chest/abdomen/pelvic CT images of 38 Chinese patients (26 males, 12 females, aged 21–70 years with POEMS syndrome recruited at our medical center between January 2013 and January 2015 were retrospectively analyzed. Bone lesions identified by CT were further categorized according to the size (10 mm and appearance (osteosclerotic, lytic, mixed. The percentage of plasma cells in bone marrow smears, type of immunoglobulin, platelet (Plt, and levels of serum bone metabolic markers and inflammatory factors including alkaline phosphatase (ALP, calcium, phosphate, parathyroid hormone (PTH, beta-isomerized C-telopeptide (β-CTx, vascular endothelial growth factor (VEGF, and interleukin (IL-6 levels were also recorded. Results. Of the 38 POEMS syndrome patients, the immunoglobulin heavy chain isotypes were IgA in 25 patients (65.8%; 25/38 and IgG in 13 patients (34.2%; 13/38, and the light chain isotypes were λ in 35 patients (92.1%; 35/38 and κ in 3 patients (7.9%; 3/38. There were 23 patients with thrombocytosis. More patients with bone lesions were detected by CT than by SS (97.4% vs. 86.8%. The most commonly affected location was the pelvis (89.5%, followed by the spine, clavicle/scapula/sternum/ribs, skull, and long bones. Of the 38 POEMS syndrome patients, 35 (94.6% had osteosclerotic and 32 (86.5% had mixed lesions. Osteosclerotic lesions were typically scattered, variable in size, and plaque-like, whereas mixed lesions were pouch-shaped or soup bubble-like with a clear sclerotic margin and were

  19. Serum lipoprotein (a) concentration in patients with nephrotic syndrome and its clinical implication.

    Science.gov (United States)

    Yang, X; Wang, H; Zhu, Z; Deng, A

    1998-01-01

    Serum lipoprotein(a) [Lp(a)] concentration was determined in 42 patients with primary nephrotic syndrome (NS) and the relationships between Lp (a) and plasma lipids, apolipoproteins, serum creatinine (Scr), albumin, urinary proteins (Upro) were also analyzed. The results showed that: (1) serum Lp(a) concentrations in the patients with NS were higher than those in healthy controls; (2) the levels of serum Lp(a) were correlated positively with total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), very low density lipoprotein cholesterol (VLDL-C), apolipoprotein B (Apo-B), Upros (Upro). It is concluded that the NS patients had the potential risk of suffering from coronary artery disease, glomerular sclerosis and thrombosis. The remission of NS may partially decrease the serum Lp(a) levels. Further studies are needed to explore the prevention and treatment of dislipedemia in patients with NS.

  20. Horner syndrome: clinical perspectives

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    Kanagalingam, Sivashakthi; Miller, Neil R

    2015-01-01

    Horner syndrome consists of unilateral ptosis, an ipsilateral miotic but normally reactive pupil, and in some cases, ipsilateral facial anhidrosis, all resulting from damage to the ipsilateral oculosympathetic pathway. Herein, we review the clinical signs and symptoms that can aid in the diagnosis and localization of a Horner syndrome as well as the causes of the condition. We emphasize that pharmacologic testing can confirm its presence and direct further testing and management. PMID:28539793

  1. Tourette Syndrome: Classroom Implications

    Science.gov (United States)

    Chaturvedi, Amrita; Gartin, Barbara C.; Murdick, Nikki L.

    2011-01-01

    Tourette Syndrome (TS) is a neurobiological disorder characterized by various involuntary motor movements and vocal tics. Symptoms of TS emerge between the ages of 3 to 8 years old, are most severe when an individual reaches puberty, and decrease by the time a person is 20 years old. Additionally, persons with TS may have secondary disabilities of…

  2. Metformin: an old medication of new fashion: evolving new molecular mechanisms and clinical implications in polycystic ovary syndrome.

    Science.gov (United States)

    Diamanti-Kandarakis, Evanthia; Christakou, Charikleia D; Kandaraki, Eleni; Economou, Frangiskos N

    2010-02-01

    Polycystic ovary syndrome (PCOS) is now recognized to be the most common endocrinopathy in women of reproductive age with a prevalence of 6.6-6.8%. PCOS, a syndrome of unknown etiology, was initially regarded as a reproductive disorder. However, in the last 15 years the role of insulin resistance (IR) has been identified as a significant contributor to the pathogenesis of PCOS, and the metabolic and cardiovascular sequelae of the syndrome have been increasingly appreciated. The coexistence and interaction of reproductive and cardiometabolic abnormalities in the context of PCOS have created a need for a modified therapeutic management of affected women. Insulin sensitizers, particularly metformin, have been introduced as a pharmaceutical option targeting not only IR, but several other aspects of the syndrome, including reproductive abnormalities. The landscape of the multifaceted actions of metformin evolves to broaden the therapeutic implications of this old drug in a new fashion for patients with PCOS. Most recently, the spectrum of metformin's targets has been expanded, and molecular studies have explored the tissue-specific mechanisms of metformin in the liver, the muscle, the endothelium, and the ovary. The use of metformin in pregnant women with PCOS comprises another scarcely explored, but promising area of research. This review attempts to cover the spectrum of metformin's cellular actions in different tissues and to summarize the current literature regarding the potential medical value of this medication in PCOS. Even if many of these actions are individually modest, they seem to be collectively sufficient to confer therapeutic benefits not only in cardiometabolic aspects but also in reproductive aspects of PCOS.

  3. Regulation of peripheral blood flow in Complex Regional Pain Syndrome: clinical implication for symptomatic relief and pain management

    Directory of Open Access Journals (Sweden)

    Coderre Terence J

    2009-09-01

    Full Text Available Abstract Background During the chronic stage of Complex Regional Pain Syndrome (CRPS, impaired microcirculation is related to increased vasoconstriction, tissue hypoxia, and metabolic tissue acidosis in the affected limb. Several mechanisms may be responsible for the ischemia and pain in chronic cold CPRS. Discussion The diminished blood flow may be caused by either sympathetic dysfunction, hypersensitivity to circulating catecholamines, or endothelial dysfunction. The pain may be of neuropathic, inflammatory, nociceptive, or functional nature, or of mixed origin. Summary The origin of the pain should be the basis of the symptomatic therapy. Since the difference in temperature between both hands fluctuates over time in cold CRPS, when in doubt, the clinician should prioritize the patient's report of a persistent cold extremity over clinical tests that show no difference. Future research should focus on developing easily applied methods for clinical use to differentiate between central and peripheral blood flow regulation disorders in individual patients.

  4. Women's perceptions of polycystic ovary syndrome following participation in a clinical research study: implications for knowledge, feelings, and daily health practices.

    Science.gov (United States)

    Colwell, Katie; Lujan, Marla E; Lawson, Karen L; Pierson, Roger A; Chizen, Donna R

    2010-05-01

    Polycystic ovary syndrome (PCOS) is a complex endocrine disorder that affects 6% to 10% of reproductive aged women. It is a poorly understood and often undiagnosed condition that has implications for the health of affected women. We assessed changes in knowledge, feelings, and daily health practices related to PCOS in clinical research study participants. Sixty-eight women who had received counselling and education about PCOS while participating in a clinical research study were invited to complete an online survey that assessed levels of concern, knowledge, healthy dieting, active living, and health care satisfaction before and after the study. Differences and associations between scores were analyzed by paired t tests and Pearson correlation. Forty-three women (63%) completed the survey. After taking part in a clinical research study, participants believed they had increased knowledge of (P better lifestyle practices (P women felt empowered to participate in the management of their condition and communicate with their primary care providers. Women with PCOS felt that they had more knowledge and motivation to implement preventive health strategies after participating in a clinical research study. Education about how PCOS affects their immediate and long-term health enabled women with PCOS to feel physical and psychological benefits and to engage more with their health care providers.

  5. Clinical implications of the detection of antibodies directed against domain 1 of β2-glycoprotein 1 in thrombotic antiphospholipid syndrome.

    Science.gov (United States)

    Montalvão, Silmara; Elídio, Priscila Soares; da Silva Saraiva, Sabrina; de Moraes Mazetto, Bruna; Colella, Marina Pereira; de Paula, Erich Vinícius; Appenzeller, Simone; Annichino-Bizzacchi, Joyce; Orsi, Fernanda Andrade

    2016-12-01

    Antibodies directed against domain 1 of β2 glycoprotein 1 (aβ2GP1-Dm1) have been involved in the immunopathogenesis of antiphospholipid syndrome (APS). However, the clinical relevance of aβ2GP1-Dm1 in thrombotic APS has not yet been fully explored. To determine the frequency of aβ2GP1-Dm1 in a cohort of patients with thrombotic APS, and to evaluate whether testing for aβ2GP1-Dm1 could have a clinical impact upon the risk assessment of the disease. Patients were tested for aβ2GP1-Dm1 antibodies by chemiluminescence (BioFlash/AcuStar®, ES). The presence of aβ2GP1-Dm1 was evaluated in different clinical presentations of the disease. Eight-four patients with a history of venous or arterial thrombosis were included. Forty-five (54%) patients had aβ2GP1 antibodies and 40% of them were positive for aβ2GP1-Dm1. Levels of aβ2GP1-Dm1 were higher in patients with systemic autoimmune disease (AUC=0.665; 95% CI=0.544-0.786; P=0.01), positive antinuclear antibody (AUC=0.654; 95% CI=0.535-0.772; P=0.01), triple antiphospholipid antibody (aPL) positivity (AUC=0.680; 95% CI=0.534-0.825; P=0.02) and positive lupus anticoagulant (AUC=0.639; 95% CI=0.502-0.776; P=0.07). In this cohort, aβ2GP1-Dm1 antibodies were not associated with the site of the first thrombosis (OR=0,62, 95% CI=0.20-1.94, P=0.42), thrombosis recurrence (OR=1.0, 95% CI=0.37-2.71, P=1.0) or pregnancy morbidity (OR=1.5, 95% CI=0.33-7.34, P=0.58). In multivariate analysis, positivity for aβ2GP1-Dm1 antibodies was associated with the diagnosis of systemic autoimmune disease (OR=4.01, 95% CI=1.14-14.2; P=0.03) and triple aPL positivity (OR=3.59, 95% CI=0.87-14.85; P=0.07). In the present cohort of thrombotic-APS patients, aβ2GP1-Dm1 antibodies were related to the diagnosis of systemic autoimmunity and complex serological profile of the disease, as triple aPL positivity and positive antinuclear antibody. Thus, our results suggest that testing for aβ2GP1-Dm1 antibodies may be useful for improving APS risk

  6. Dependence on carbonated water: Clinical and policy implications

    Directory of Open Access Journals (Sweden)

    Sumit Kumar Gupta

    2015-01-01

    Full Text Available A case of caffeine dependence syndrome with preference for a specific brand of carbonated water (popularly known as soft drinks or colas is discussed to highlight the clinical and policy implications.

  7. Clinical update on metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Juan Diego Hernández-Camacho

    2017-12-01

    Full Text Available Metabolic syndrome has been defined as a global issue since it affects a lot of people. Numerous factors are involved in metabolic syndrome development. It has been described that metabolic syndrome has negative consequences on health. Consequently, a lot of treatments have been proposed to palliate it such as drugs, surgery or life style changes where nutritional habits have shown to be an important point in its management. The current study reviews the literature existing about the actual epidemiology of metabolic syndrome, the components involucrate in its appearance and progression, the clinical consequences of metabolic syndrome and the nutritional strategies reported in its remission. A bibliographic search in PubMed and Medline was performed to identify eligible studies. Authors obtained that metabolic syndrome is present in population from developed and undeveloped areas in a huge scale. Environmental and genetic elements are involucrate in metabolic syndrome development. Metabolic syndrome exponentially increased risk of cardiovascular disease, some types of cancers, diabetes mellitus type 2, sleep disturbances, etc. Nutritional treatments play a crucial role in metabolic syndrome prevention, treatment and recovery.

  8. Marfan Syndrome: A Clinical Update.

    Science.gov (United States)

    Bitterman, Adam D; Sponseller, Paul D

    2017-09-01

    Marfan syndrome is a connective tissue disorder that can affect many organ systems. Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Pain caused by musculoskeletal abnormalities often requires definitive orthopaedic treatment. Orthopaedic surgeons must understand the phenotypes of Marfan syndrome so they can recognize when screening is warranted and can appropriately address the skeletal manifestations. Through medical advancements, patients with Marfan syndrome are living longer and more active lives. Knowledge of the latest diagnostic criteria for the disorder, as well as of advances in understanding the skeletal phenotype, clinical trials of medication therapy, and lifestyle considerations is important for orthopaedic surgeons who treat these patients because these clinicians often are the first to suspect Marfan syndrome and recommend screening.

  9. Noonan syndrome and clinically related disorders

    Science.gov (United States)

    Tartaglia, Marco; Gelb, Bruce D.; Zenker, Martin

    2010-01-01

    Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. Noonan syndrome is transmitted as an autosomal dominant trait, and is genetically heterogeneous. So far, heterozygous mutations in nine genes (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 and CBL) have been documented to underlie this disorder or clinically related phenotypes. Based on these recent discoveries, the diagnosis can now be confirmed molecularly in approximately 75% of affected individuals. Affected genes encode for proteins participating in the RAS-mitogen-activated protein kinases (MAPK) signal transduction pathway, which is implicated in several developmental processes controlling morphology determination, organogenesis, synaptic plasticity and growth. Here, we provide an overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations. PMID:21396583

  10. Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

    Directory of Open Access Journals (Sweden)

    Tullu M

    2000-04-01

    Full Text Available Neurofibromatosis (NF, Noonan syndrome (NS, and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the ′Neurofibromatosis-Noonan syndrome′ (NF-NS. The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.

  11. Burning mouth syndrome: Clinical dilemma?

    OpenAIRE

    Kanchan R Patil; R S Sathawane

    2008-01-01

    Burning Mouth Syndrome (BMS) is a chronic orofacial burning pain condition usually in the absence of clinical and laboratory findings that affects many adults worldwide, yet its etiology and treatment remain poorly understood. Though it has been associated with numerous oral and systemic conditions, there has been no clear consensus on its etiology, pathogenesis and treatment. As a result, patients with inexplicable oral complaints are often referred from one health care professional to anoth...

  12. Ecological implications of behavioural syndromes.

    Science.gov (United States)

    Sih, Andrew; Cote, Julien; Evans, Mara; Fogarty, Sean; Pruitt, Jonathan

    2012-03-01

    Interspecific trait variation has long served as a conceptual foundation for our understanding of ecological patterns and dynamics. In particular, ecologists recognise the important role that animal behaviour plays in shaping ecological processes. An emerging area of interest in animal behaviour, the study of behavioural syndromes (animal personalities) considers how limited behavioural plasticity, as well as behavioural correlations affects an individual's fitness in diverse ecological contexts. In this article we explore how insights from the concept and study of behavioural syndromes provide fresh understanding of major issues in population ecology. We identify several general mechanisms for how population ecology phenomena can be influenced by a species or population's average behavioural type, by within-species variation in behavioural type, or by behavioural correlations across time or across ecological contexts. We note, in particular, the importance of behavioural type-dependent dispersal in spatial ecology. We then review recent literature and provide new syntheses for how these general mechanisms produce novel insights on five major issues in population ecology: (1) limits to species' distribution and abundance; (2) species interactions; (3) population dynamics; (4) relative responses to human-induced rapid environmental change; and (5) ecological invasions. © 2012 Blackwell Publishing Ltd/CNRS.

  13. MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, Alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders

    Directory of Open Access Journals (Sweden)

    Cox Timothy C

    2002-01-01

    Full Text Available Abstract Background Patients with Opitz GBBB syndrome present with a variable array of developmental defects including craniofacial, cardiac, and genital anomalies. Mutations in the X-linked MID1 gene, which encodes a microtubule-binding protein, have been found in ~50% of Opitz GBBB syndrome patients consistent with the genetically heterogeneous nature of the disorder. A protein highly related to MID1, called MID2, has also been described that similarly associates with microtubules. Results To identify protein partners of MID1 and MID2 we undertook two separate yeast two-hybrid screens. Using this system we identified Alpha 4, a regulatory subunit of PP2-type phosphatases and a key component of the rapamycin-sensitive signaling pathway, as a strong interactor of both proteins. Analysis of domain-specific deletions has shown that the B-boxes of both MID1 and MID2 mediate the interaction with Alpha 4, the first demonstration in an RBCC protein of a specific role for the B-box region. In addition, we show that the MID1/2 coiled-coil motifs mediate both homo- and hetero-dimerisation, and that dimerisation is a prerequisite for association of the MID-Alpha 4 complex with microtubules. Conclusions Our findings not only implicate Alpha 4 in the pathogenesis of Opitz GBBB syndrome but also support our earlier hypothesis that MID2 is a modifier of the X-linked phenotype. Of further note is the observation that Alpha 4 maps to Xq13 within the region showing linkage to FG (Opitz-Kaveggia syndrome. Overlap in the clinical features of FG and Opitz GBBB syndromes warrants investigation of Alpha 4 as a candidate for causing FG syndrome.

  14. Update on clinically isolated syndrome.

    Science.gov (United States)

    Thouvenot, Éric

    2015-04-01

    Optic neuritis, myelitis and brainstem syndrome accompanied by a symptomatic MRI T2 or FLAIR hyperintensity and T1 hypointensity are highly suggestive of multiple sclerosis (MS) in young adults. They are called "clinically isolated syndrome" (CIS) and correspond to the typical first multiple sclerosis (MS) episode, especially when associated with other asymptomatic demyelinating lesions, without clinical, radiological and immunological sign of differential diagnosis. After a CIS, the delay of apparition of a relapse, which corresponds to the conversion to clinically definite MS (CDMS), varies from several months to more than 10 years (10-15% of cases, generally called benign RRMS). This delay is generally associated with the number and location of demyelinating lesions of the brain and spinal cord and the results of CSF analysis. Several studies comparing different MRI criteria for dissemination in space and dissemination in time of demyelinating lesions, two hallmarks of MS, provided enough substantial data to update diagnostic criteria for MS after a CIS. In the last revision of the McDonald's criteria in 2010, diagnostic criteria were simplified and now the diagnosis can be made by a single initial scan that proves the presence of active asymptomatic lesions (with gadolinium enhancement) and of unenhanced lesions. However, time to conversion remains highly unpredictable for a given patient and CIS can remain isolated, especially for idiopathic unilateral optic neuritis or myelitis. Univariate analyses of clinical, radiological, biological or electrophysiological characteristics of CIS patients in small series identified numerous risk factors of rapid conversion to MS. However, large series of CIS patients analyzing several characteristics of CIS patients and the influence of disease modifying therapies brought important information about the risk of CDMS or RRMS over up to 20 years of follow-up. They confirmed the importance of the initial MRI pattern of

  15. Refeeding syndrome: a clinical review.

    Science.gov (United States)

    Ormerod, Clare; Farrer, Kirstine; Harper, Lindsay; Lal, Simon

    2010-12-01

    Refeeding syndrome can result in a wide variety of complications and may be life threatening. Although well described in hospital practice, refeeding syndrome is often under-recognized and inadequately treated.

  16. [Clinical characteristics of Rett Syndrome].

    Science.gov (United States)

    Abbes, Zeineb; Bouden, Asma; Halayem, Soumaya; Othman, Sami; Bechir Halayem, Mohamed

    2011-10-01

    Rett Syndrome is a neurodevelopmental disorder, one of the least commonly occurring autism spectrum disorders (ASD),affecting mainly females. To describe features and molecular specificities of Rett syndrome. To identify articles for this review, a Pubmed search was conducted using the following keywords: Rett syndrome, regression,mutation, stereotypes. This syndrome is characterized by cognitive impairment,communication dysfunction, stereotypic movement disorder, and growth failure. It is generally caused by mutations in the MECP2 gene. Rett Syndrome has a prevalence ranging from 10-20 000 females. Specific treatment is not available, but patients need a careful planning for long-term care, with multidisciplinary approaches.

  17. Burning mouth syndrome: Clinical dilemma?

    Directory of Open Access Journals (Sweden)

    Kanchan R Patil

    2008-01-01

    Full Text Available Burning Mouth Syndrome (BMS is a chronic orofacial burning pain condition usually in the absence of clinical and laboratory findings that affects many adults worldwide, yet its etiology and treatment remain poorly understood. Though it has been associated with numerous oral and systemic conditions, there has been no clear consensus on its etiology, pathogenesis and treatment. As a result, patients with inexplicable oral complaints are often referred from one health care professional to another without effective management having significant emotional impact on patients. As the dental profession expands its scope of care to oral medicine and geriatrics, BMS will be more effectively diagnosed and managed by these dental surgeons. Hence, they should be more involved in evaluation and management of these patients. The present article provides updated information on BMS including possible etiological factors and current treatment options, although data on the effectiveness of these treatment modalities remain limited. Recently researchers found that treatment with a familiar nutritional supplement- lipoic acid- is of remarkable benefit with minimal adverse effects. ALA (alpha-lipoic acid may be the effective treatment modality in management of BMS.

  18. Clinical course of Tourette syndrome.

    Science.gov (United States)

    Bloch, Michael H; Leckman, James F

    2009-12-01

    Tourette syndrome (TS) is a childhood-onset neuropsychiatric disorder characterized by multiple motor and vocal tics lasting at least a year in duration. Children with TS often experience comorbid conditions such as obsessive-compulsive disorder (OCD) and attention-deficit disorder. The goal of this article was to review the long-term clinical course of tics and comorbid conditions in children with TS. We conducted a traditional literature search to locate relevant articles regarding long-term outcome and prognosis in TS and tic disorders. Tics typically have an onset between the ages of 4 and 6 years and reach their worst-ever severity between the ages of 10 and 12 years. On average, tic severity declines during adolescence. By early adulthood, roughly three-quarters of children with TS will have greatly diminished tic symptoms and over one-third will be tic free. Comorbid conditions, such as OCD and other anxiety and depressive disorders, are more common during the adolescence and early adulthood of individuals with TS than in the general population. Although tics are the sine qua non of TS, they are often not the most enduring or impairing symptoms in children with TS. Measures used to enhance self-esteem, such as encouraging strong friendships and the exploration of interests, are crucial to ensuring positive adulthood outcome in TS.

  19. Fear of movement and avoidance behaviour toward physical activity in chronic-fatigue syndrome and fibromyalgia: state of the art and implications for clinical practice.

    Science.gov (United States)

    Nijs, Jo; Roussel, Nathalie; Van Oosterwijck, Jessica; De Kooning, Margot; Ickmans, Kelly; Struyf, Filip; Meeus, Mira; Lundberg, Mari

    2013-08-01

    Severe exacerbation of symptoms following physical activity is characteristic for chronic-fatigue syndrome (CFS) and fibromyalgia (FM). These exacerbations make it understandable for people with CFS and FM to develop fear of performing body movement or physical activity and consequently avoidance behaviour toward physical activity. The aims of this article were to review what measures are available for measuring fear of movement and avoidance behaviour, the prevalence fear of movement and avoidance behaviour toward physical activity and the therapeutic options with fear of movement and avoidance behaviour toward physical activity in patients with CFS and FM. The review revealed that fear of movement and avoidance behaviour toward physical activity is highly prevalent in both the CFS and FM population, and it is related to various clinical characteristics of CFS and FM, including symptom severity and self-reported quality of life and disability. It appears to be crucial for treatment (success) to identify CFS and FM patients displaying fear of movement and avoidance behaviour toward physical activity. Individually tailored cognitive behavioural therapy plus exercise training, depending on the patient's classification as avoiding or persisting, appears to be the most promising strategy for treating fear of movement and avoidance behaviour toward physical activity in patients with CFS and FM.

  20. Clinical expression of Menkes syndrome in females

    Energy Technology Data Exchange (ETDEWEB)

    Gerdes, A.-M.; Toennesen, T.; Horn, N.; Guettler, F. (The John F. Kennedy Institute, Glostrup (Denmark)); Grisar, T. (Hauptgesundheitsamt, Humangenetische Beratungsstelle, Zentralkrankenhaus, Bremen (Germany, F.R.)); Marg, W.; Mueller, A. (Prof. Hess Kinderklinik, Zentralkrankenhaus, Bremen (Germany, F.R.)); Reinsch, R. (Department of Obstetrics and Gynecology, Kaiser Permanente, San Diego, California (USA)); Barton, N.W. (Developmental and Metabolic Neurology Branch, IRP, NINCDS, NIH Bethesda, Maryland (USA)); Guiraud, P.; Richard, M.J. (Laboratoire de Biochimie C, CHRU Albert Michallon, Grenoble (France)); Joannard, A. (Clinique Medicale Infantile, CHRU Albert Michallon, Grenoble (France))

    1990-01-01

    Three female patients with Menkes syndrome are described. Clinically, they have typical Menkes syndrome. Biochemically, they have significantly increased {sup 64}Cu-uptake in cultured fibroblasts. The chromosomal analysis was normal for two of the patients and abnormal for one patient (45X/46XX mosaicism). (author).

  1. Clinical expression of Menkes syndrome in females

    International Nuclear Information System (INIS)

    Gerdes, A.-M.; Toennesen, T.; Horn, N.; Guettler, F.; Grisar, T.; Marg, W.; Mueller, A.; Reinsch, R.; Barton, N.W.; Guiraud, P.; Richard, M.J.; Joannard, A.

    1990-01-01

    Three female patients with Menkes syndrome are described. Clinically, they have typical Menkes syndrome. Biochemically, they have significantly increased 64 Cu-uptake in cultured fibroblasts. The chromosomal analysis was normal for two of the patients and abnormal for one patient (45X/46XX mosaicism). (author)

  2. Clinical aspects of lower leg compartment syndrome

    NARCIS (Netherlands)

    Brand, Johan Gerard Henric van den

    2004-01-01

    A compartment syndrome is a condition in which increased pressure within a limited space compromises the circulation and function of tissues within that space. Although pathofysiology is roughly similar in chronic exertional and acute compartment syndrome of the lower leg, the clinical

  3. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome

    NARCIS (Netherlands)

    Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cave, Helene; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C. M.; Wilson, Louise C.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yokhi

    2007-01-01

    Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are

  4. Venous chest anatomy: clinical implications

    International Nuclear Information System (INIS)

    Chasen, M.H.; Charnsangavej, C.

    1998-01-01

    This article provides a practical approach to the clinical implications and importance of understanding the collateral venous anatomy of the thorax. Routine radiography, conventional venography, computed tomography (CT), and magnetic resonance (MR) imaging studies provide correlative anatomic models for the demonstration of how interconnecting collateral vascular networks within the thorax maintain venous stability at all times. Five major systems comprise the collateral venous network of the thorax ( Fig. 1 ). These include the paravertebral, azygos-hemiazygos, internal mammary, lateral thoracic, and anterior jugular venous systems (AJVS). The five systems are presented in the following sequence: (a) a brief introduction to the importance of catheter position and malposition in understanding access to the thoracic venous system, (b) the anatomy of the azygos-hemiazygos systems and their relationship with the paravertebral plexus, (c) the importance of the AJVS, (d) 'loop' concepts interconnecting the internal mammary and azygos-hemiazygos systems by means of the lateral thoracic and intercostal veins, and (e) the interconnecting venous networks on the thoracic side of the thoracoabdominal junction. Certain aspects of the venous anatomy of the thorax will not be discussed in this chapter and include (a) the intra-abdominal anastomoses between the superior and inferior vena cavae (IVC) via the internal mammary, lateral thoracic, and azygos-hemiazygos systems (beyond the scope of this article), (b) potential collateral vessels involving vertebral, parascapular, thyroidal, thymic, and other smaller veins that might anastomose with the major systems, and (c) anatomic variants and pitfalls that may mimic pathologic conditions (space limitations). (Copyright (c) 1998 Elsevier Science B.V., Amsterdam. All rights reserved.)

  5. Antiphospholipid Syndrome Clinical Research Task Force Report

    NARCIS (Netherlands)

    Erkan, D.; Derksen, R.; Levy, R.; Machin, S.; Ortel, T.; Pierangeli, S.; Roubey, R.; Lockshin, M.

    The Antiphospholipid Syndrome (APS) Clinical Research Task Force (CRTF) was one of six Task Forces developed by the 13(th) International Congress on Antiphospholipid Antibodies (aPL) organization committee with the purpose of: a) evaluating the limitations of APS clinical research and developing

  6. Molecular cytogenetic analysis of Inv Dup(15) chromosomes, using probes specific for the Pradar-Willi/Angelman syndrome region: Clinical implications

    Energy Technology Data Exchange (ETDEWEB)

    Leana-Cox, J. (Univ. of Maryland School of Medicine, Baltimore, MD (United States)); Jenkins, L. (Kaiser Permanente Medical Group, San Jose, CA (United States)); Palmer, C.G.; Plattner, R. (Indiana School of Medicine, Indianapolis, IN (United States)); Sheppard, L. (Palo Verde Laboratory, Inc., Chandler, AZ (United States)); Flejter, W.L. (Univ. of Michigan, Ann Arbor, MI (United States)); Zackowski, J. (Univ. of Florida Health Science Center, Gainsville, FL (United States)); Tsien, F. (Tulane Univ. School of Medicine, New Orleans, LA (United States)); Schwartz, S. (Case Western Reserve Univ., Cleveland, OH (United States))

    1994-05-01

    Twenty-seven cases of inverted duplications of chromosome 15 (inv dup[15]) were investigated by FISH with two DNA probes specific for the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region on proximal 15q. Sixteen of the marker chromosomes displayed two copies of each probe, while in the remaining 11 markers no hybridization was observed. A significant association was found between the presence of this region and an abnormal phenotype (P<.01). This is the largest study to date of inv dup(15) chromosomes, that uses molecular cytogenetic methods and is the first to report a significant association between the presence of a specific chromosomal region in such markers and an abnormal phenotype. 30 refs., 1 fig., 4 tabs.

  7. Clinical spectrum of silver - Russell syndrome

    Directory of Open Access Journals (Sweden)

    Sapna N.K. Varma

    2013-01-01

    Full Text Available Silver - Russell syndrome is a clinically and genetically heterogenous condition characterized by severe intrauterine and postnatal growth retardation, craniofacial disproportion and normal intelligence downward curvature of the corner of the mouth, syndactyly and webbed fingers. Diagnosis of Silver - Russell syndrome remains clinical; no definite etiology or specific tests have been established. In the recent years, it has been shown that more than 38% of patients have hypomethylation in the imprinting control region 1 of 11p15 and one-tenth of patients carry a maternal uniparental disomy of chromosome seven. The pathophysiological mechanisms resulting in the Silver - Russell phenotype remain unknown despite the recent progress in deciphering the molecular defects associated with this condition. This case report describes the clinical features of Silver - Russell syndrome in a father and daughter.

  8. The pathophysiology of the trigeminal autonomic cephalalgias, with clinical implications

    DEFF Research Database (Denmark)

    Barloese, Mads C J

    2018-01-01

    , it is obvious that this brainstem reflex is regulated by higher centers that seemingly play a pivotal role in the attacks and the wide range of other symptoms indicating a homeostatic disturbance. These symptoms, as well as a number of well-validated findings, implicate the hypothalamus in the pathophysiology....... over the course of the past 2-3 decades, novel therapies and technological advances have helped increase our knowledge of these clinical syndromes, and will likely continue to do so in the coming years as we witness the arrival of new drugs and neurostimulation options. In this review, the clinical...

  9. Temporomandibular joint dysfunction syndrome. A clinical report.

    Science.gov (United States)

    Passero, P L; Wyman, B S; Bell, J W; Hirschey, S A; Schlosser, W S

    1985-08-01

    We have presented two clinical case reports of patients with TMJ dysfunction syndrome as an example of coordinated treatments between dentists and physical therapists. The clinical profiles of these patients with craniocervical pain were compiled from comprehensive physical therapy and dental-orthopedic evaluations. The significance of the relationship between the rest position of the mandible and forward head posture has been shown by the changes observed after correction of the postural deviations and vertical resting dimensions by dental treatments and physical therapy. Additional research is necessary to determine long-term effects of this combined approach in TMJ dysfunction syndrome.

  10. Marfan syndrome: clinical diagnosis and management.

    Science.gov (United States)

    Dean, John C S

    2007-07-01

    Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of cases. Use of a care pathway can help implementation of the nosology in the clinic. The penetrance of some features is age dependent, so the nosology must be used with caution in children. Molecular testing may be helpful in this context. The nosology cannot be used in families with isolated aortic dissection, or with related conditions such as Loeys-Dietz syndrome, although it may help identify families for further diagnostic evaluation because they do not fulfill the nosology, despite a history of aneurysm. Prophylactic medical (eg beta-blockade) and surgical intervention is important in reducing the cardiovascular complications of Marfan syndrome. Musculoskeletal symptoms are common, although the pathophysiology is less clear--for example, the correlation between dural ectasia and back pain is uncertain. Symptoms in other systems require specialist review such as ophthalmology assessment of refractive errors and ectopia lentis. Pregnancy is a time of increased cardiovascular risk for women with Marfan syndrome, particularly if the aortic root exceeds 4 cm at the start of pregnancy. High-intensity static exercise should be discouraged although low-moderate intensity dynamic exercise may be beneficial. The diagnosis and management of Marfan syndrome requires a multidisciplinary team approach, in view of its multisystem effects and phenotypic variability.

  11. Marfan syndromeclinical experiences

    International Nuclear Information System (INIS)

    Hladikova, A.; Silhanova, E.; Cibulkova, P.

    2014-01-01

    Marfan syndrome (MFS) is a genetic connective tissue disorder caused by mis folding of the protein fibrillin-1 (coded by the gene FBN1) and alterations in TGFß signalling pathway within the extracellular matrix. Estimates indicate about one in 3,000 to 5,000 individuals have MFS. Patients with MFS have various cardiovascular, skeletal and ocular symptoms: grow to above-average height, dolichostenomelia, arachnodactyly, dolichocephaly and specific facial stigmatisation, abnormal joint flexibility, scoliosis, pectus excavatum/carinatum, limited range of motion in the hips. The most dangerous complication is acute dissection of the ascending aorta, result of a slowly progressive aortic dilatation. Additionally, it may affect the lungs, eyes (lens dislocation) or spinal cord. On the Department of Medical Genetics in Ostrava were between 2002 – 2013 altogether n = 150 individuals examined for possible Marfan syndrome. Complete physical, cardiovascular, ophtamic, orthopaedic examinations and molecular genetic analysis of FBN1, TGFBR1/TGFBR2 were given. N = 51 patients (38 with mutation in FBN1, 75 %) resulted affected by MFS according to the revised Ghent criteria, n = 37 as potential MFS. The diagnosis remains sometimes difficult particularly during childhood, because of the great variability of expression and of the signs evolution with age, but this is a crucial point in order to prevent multiple organ complications. Therapeutic strategies focus on the prevention of aortic dilatation/dissection, currently researches suggest the angiotensin II receptor antagonist Losartan appears to block TGF-beta activity and can slow or halt the formation of aortic aneurysms in MFS. (author)

  12. Marfan Syndrome: Clinical, Surgical, and Anesthetic Considerations.

    Science.gov (United States)

    Castellano, José M; Silvay, George; Castillo, Javier G

    2014-09-01

    Marfan syndrome is a multisystem connective tissue disorder, with primary involvement of the cardiovascular, ocular, and skeletal systems. This autosomal heritable disease is mainly attributable to a defect in the FBN1 gene. Clinical diagnosis of Marfan syndrome has been based on the Ghent criteria since 1996. In 2010, these criteria were updated, and the revised guidelines place more emphasis on aortic root dilation, ectopia lentis, and FBN1 mutation testing in the diagnostic assessment of Marfan syndrome. Among its many different clinical manifestations, cardiovascular involvement deserves special consideration, owing to its impact on prognosis. Recent molecular, surgical, and clinical research has yielded profound new insights into the pathological mechanisms that ultimately lead to tissue degradation and weakening of the aortic wall, which has led to exciting new treatment strategies. Furthermore, with the increasing life expectancy of patients with Marfan syndrome, there has been a subtle shift in the spectrum of medical problems. Consequently, this article focuses on recent advances to highlight their potential impact on future concepts of patient care from a clinical, surgical, and anesthetic perspective. © The Author(s) 2013.

  13. Metabolic syndrome pathophysiology and clinical presentation.

    Science.gov (United States)

    Handelsman, Yehuda

    2009-01-01

    Metabolic syndrome is a relatively new definition, designed to help the health care practitioner to easily identify people at risk for the development of cardiovascular disease and diabetes. With the obesity epidemic, we are witnessing an epidemic of multiple-risk patients. Insulin resistance is the perceived pathophysiology of metabolic syndrome and defines its clinical presentation. Hypertension, dyslipedemia, polycystic ovarian syndrome, fatty liver disease, pre-diabetes, sleep and breathing disorder, certain cancers, and cognitive impairment are many of the presentations of the syndrome; patients with any of these conditions are at a high risk of developing cardiovascular disease and diabetes. The metabolic syndrome helps identify people at risk to allow early intervention for prevention. Lifestyle modification is the most important part of the management of people with the syndrome. Lately medications--though none approved by the U.S. Food and Drug Administration (FDA)--have been recommended by major medical societies when lifestyle modification is not enough or when it fails.

  14. Antiphospholipid syndrome; its implication in cardiovascular diseases: a review

    Directory of Open Access Journals (Sweden)

    Goudevenos John

    2010-11-01

    Full Text Available Abstract Antiphospholipid syndrome (APLS is a rare syndrome mainly characterized by several hyper-coagulable complications and therefore, implicated in the operated cardiac surgery patient. APLS comprises clinical features such as arterial or venous thromboses, valve disease, coronary artery disease, intracardiac thrombus formation, pulmonary hypertension and dilated cardiomyopathy. The most commonly affected valve is the mitral, followed by the aortic and tricuspid valve. For APLS diagnosis essential is the detection of so-called antiphospholipid antibodies (aPL as anticardiolipin antibodies (aCL or lupus anticoagulant (LA. Minor alterations in the anticoagulation, infection, and surgical stress may trigger widespread thrombosis. The incidence of thrombosis is highest during the following perioperative periods: preoperatively during the withdrawal of warfarin, postoperatively during the period of hypercoagulability despite warfarin or heparin therapy, or postoperatively before adequate anticoagulation achievement. Cardiac valvular pathology includes irregular thickening of the valve leaflets due to deposition of immune complexes that may lead to vegetations and valve dysfunction; a significant risk factor for stroke. Patients with APLS are at increased risk for thrombosis and adequate anticoagulation is of vital importance during cardiopulmonary bypass (CPB. A successful outcome requires multidisciplinary management in order to prevent thrombotic or bleeding complications and to manage perioperative anticoagulation. More work and reporting on anticoagulation management and adjuvant therapy in patients with APLS during extracorporeal circulation are necessary.

  15. Clinical implications of gait analysis in the rehabilitation of adult patients with "Prader-Willi" Syndrome: a cross-sectional comparative study ("Prader-Willi" Syndrome vs matched obese patients and healthy subjects

    Directory of Open Access Journals (Sweden)

    Baccalaro Gabriele

    2007-05-01

    Full Text Available Abstract Background Being severely overweight is a distinctive clinical feature of Prader-Willi Syndrome (PWS. PWS is a complex multisystem disorder, representing the most common form of genetic obesity. The aim of this study was the analysis of the gait pattern of adult subjects with PWS by using three-Dimensional Gait Analysis. The results were compared with those obtained in a group of obese patients and in a group of healthy subjects. Methods Cross-sectional, comparative study: 19 patients with PWS (11 males and 8 females, age: 18–40 years, BMI: 29.3–50.3 kg/m2; 14 obese matched patients (5 males and 9 females, age: 18–40 years, BMI: 34.3–45.2 kg/m2; 20 healthy subjects (10 males and 10 females, age: 21–41 years, BMI: 19.3–25.4 kg/m2. Kinematic and kinetic parameters during walking were assessed by an optoelectronic system and two force platforms. Results PWS adult patients walked slower, had a shorter stride length, a lower cadence and a longer stance phase compared with both matched obese, and healthy subjects. Obese matched patients showed spatio-temporal parameters significantly different from healthy subjects. Furthermore, Range Of Motion (ROM at knee and ankle, and plantaflexor activity of PWS patients were significantly different between obese and healthy subjects. Obese subjects revealed kinematic and kinetic data similar to healthy subjects. Conclusion PWS subjects had a gait pattern significantly different from obese patients. Despite that, both groups had a similar BMI. We suggest that PWS gait abnormalities may be related to abnormalities in the development of motor skills in childhood, due to precocious obesity. A tailored rehabilitation program in early childhood of PWS patients could prevent gait pattern changes.

  16. Clinical aspects of the fragile X syndrome.

    Science.gov (United States)

    Brown, W Ted

    2012-01-01

    Fragile X syndrome patients express a wide array of cognitive and other gender-specific phenotypic features. These manifestations result not only from molecular mechanisms that are altered as a result of the expansion of a CGG-repeat region in the FMR1 promoter, but also genetic factors such as founder effects and mosaicism. In this chapter, I will summarize the many and varied features of fragile X syndrome as they present themselves in a clinical setting and describe the procedures that are used to diagnose patients. Finally, I will briefly touch on recent developments that will affect patient screening in the future.

  17. Clinical Manifestations of the Opiate Withdrawal Syndrome

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    Faniya Shigakova

    2015-09-01

    Full Text Available Currently, substance abuse is one of the most serious problems facing our society. The aim of this study was to investigate the clinical manifestations of the opiate withdrawal syndrome (OWS. The study included 112 patients (57 women and 55 men aged from 18 to 64 years with opium addiction according to the DSM-IV. To study the clinical manifestation of OWS, the special 25-score scale with four sections to assess severity of sleep disorders, pain syndrome, autonomic disorders, and affective symptoms was used. Given the diversity of the OWS symptoms, attention was focused on three clinical variants, affective, algic and mixed. The OWS affective variant was registered more frequently in women, while the mixed type of OWS was more typical of men.

  18. Women's Health Implications of Polycystic Ovary Syndrome

    NARCIS (Netherlands)

    Veltman-Verhulst, S.M.

    2012-01-01

    Polycystic Ovary Syndrome (PCOS) is a complex endocrine disorder of unknown etiology which affects approximately 12% of women. Principal features of PCOS are anovulation resulting in irregular or absent menstruation, excessive androgens (male sex hormones) and ovaries with multiple follicles

  19. Stendhal syndrome: a clinical and historical overview.

    Science.gov (United States)

    Palacios-Sánchez, Leonardo; Botero-Meneses, Juan Sebastián; Pachón, Rocío Plazas; Hernández, Laura Bibiana Pineros; Triana-Melo, Juanita Del Pilar; Ramírez-Rodríguez, Santiago

    2018-02-01

    It could be argued that one of the few unifying qualities all human beings share is the ability to appreciate beauty. While the object of beauty may change from one person to another, the awe and the thrill experienced by an enthralled beholder remains the same. Sometimes, this experience can be so overwhelming it can bring someone to the edge of existence. A very rare condition, known as aesthetic syndrome and, more commonly, Stendhal syndrome, entails a clinical phenomenon in which the presence of a beautiful piece of work or architecture causes dysautonomic symptoms such as tachycardia, diaphoresis, chest pains and loss of consciousness. We present an historical and clinical review of this condition.

  20. Cugini's syndrome: its clinical history and diagnosis

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    Laura Gasbarrone

    2013-09-01

    Full Text Available INTRODUCTION: This article deals with the description and diagnosis of a new nosographic syndrome, which received the eponym of "Cugini's syndrome" by the name of the Author who discovered its clinical picture. This syndrome is characterized by the binomial: "minimal target organ damage associated to monitoring prehypertension". CLINICAL HISTORY AND DIAGNOSIS: Between the years 1997 and 2002, the Author published a series of investigations regarding some office normotensives who inexplicably showed incipient signs of target organ damage (TOD. Investigated via ambulatory (A blood (B pressure (P monitoring (M, these subjects were surprisingly found not to be hypertensive. Neverthless, the office normotensives with TOD exibited the daily mean level of their systolic (S and diastolic (D BP (DML SBP/DBP significantly more elevated as compared to true normotensives. Because of these ABPM findings, the Author realized that the investigated subjects were false normotensives whose TOD was associated with a monitoring prehypertension (ABPM-diagnosable prehypertension alias monitoring prehypertension alias masked prehypertension. The year after the last Cugini's investigation, the INC-7 Reports introduced the term: "prehypertension" in its classification of arterial hypertension, as an office sphygmomanometric condition in between office normotension and office hypertension. The ABPM cut-off upper limits for a differential diagnosis between monitoring normotension, prehypertension and hypertension are reported, as calculated by the Author in its collection of ABPMs. The eponym of "Cugini's syndrome" was assigned in 2007 and confirmed in 2009. CONCLUSIVE REMARKS: The monitoring prehypertension is a further condition of discrepancy between office sphygmomanometry and ABPM, as per a masked prehypertension, whose diagnosis has to be immediately diagnosed, for preventing the onset of a TOD. There are reported the present investigations dealing with the possible

  1. Clinical Implications Of Childhood Bilingualism | Southwood ...

    African Journals Online (AJOL)

    Stellenbosch Papers in Linguistics Plus. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 32 (2003) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Clinical Implications Of Childhood Bilingualism.

  2. Computer Vision Syndrome: Implications for the Occupational Health Nurse.

    Science.gov (United States)

    Lurati, Ann Regina

    2018-02-01

    Computers and other digital devices are commonly used both in the workplace and during leisure time. Computer vision syndrome (CVS) is a new health-related condition that negatively affects workers. This article reviews the pathology of and interventions for CVS with implications for the occupational health nurse.

  3. Tourette Syndrome: A Review and Educational Implications.

    Science.gov (United States)

    Bauer, Anne M.; Shea, Thomas M.

    1984-01-01

    Tourette Syndrome, a condition characterized by involuntary muscular and verbal tics, is defined, its course described, incidence noted (possibly 1.6 percent of the population), etiology considered (from viewpoints of psychogenic and organic theories), treatment (primarily pharmaceutical therapy) discussed, and educational approaches examined.…

  4. Clinical implications of contemporary gender theory.

    Science.gov (United States)

    Kulish, Nancy

    2010-04-01

    The current intellectual scene in psychoanalysis is marked by vigorous theoretical controversies about gender. The ideas being debated have important implications for clinical work, which have not been thoroughly explicated or integrated into common practice. These implications include the following: gender can accrue idiosyncratic meanings; gender identity is considered fluid and rigidity of gender identity deemed problematic; gender-related conflicts are typically described as divergent; analysis of superego conflicts related to gender becomes particularly important; and, finally, gender-related biases are seen as inevitable and must be taken into account in the clinical situation. A detailed clinical example illustrates the application of these ideas. While the more dramatic cases related to gender have been more frequent subjects of study, conflicts about gender are everyday occurrences for our patients and deserve further attention.

  5. Pseudoexfoliation syndrome at a Singapore eye clinic

    Directory of Open Access Journals (Sweden)

    Lee JK

    2015-09-01

    Full Text Available Jason Kian Seng Lee, Elizabeth Poh Ying Wong, Su Ling HoNational Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore Background: The purpose of this study was to investigate the demographics of pseudoexfoliation syndrome (PXF and pseudoexfoliative glaucoma (PXG in a Singapore hospital eye outpatient clinic.Methods: A retrospective study of 93 consecutive patients (146 eyes with PXF was undertaken by a single ophthalmologist over a period of 37 months (July 1, 2006, to July 31, 2009.Results: Ninety-three (2.8% of 3,297 patients seen during the study period were diagnosed with PXF. Forty-three (46.2% of the 93 PXF patients were male. Indians were 5.04 times more likely to develop PXF than Chinese (P<0.001, 95% confidence interval 3.05–8.33, while Malays were 2.22 times more likely to develop PXF as compared with Chinese (P=0.029, 95% CI 1.08–4.55. Twenty-two (23.7% of the 93 PXF patients had PXG at the time of diagnosis. There was no statistically significant difference in mean age between PXF and PXG patients. There was a larger proportion of males with PXG than females (P<0.001.Conclusion: PXF is not infrequent in elderly Singapore eye clinic patients, and is more likely to occur in Indians than in Chinese. In the Singapore eye clinic setting, males may be more likely to develop PXG, although larger studies will be required to confirm this.Keywords: exfoliation syndrome, pseudoexfoliation syndrome, exfoliation glaucoma, glaucoma capsulare

  6. Refeeding syndrome: clinical and nutritional relevance.

    Science.gov (United States)

    Viana, Larissa de Andrade; Burgos, Maria Goretti Pessoa de Araújo; Silva, Rafaella de Andrade

    2012-01-01

    Feedback syndrome is characterized clinically by neurological alterations, respiratory symptoms, arrhythmias and heart failure few days after refeeding. It happens due to severe electrolyte changes, such as hypophosphatemia, hypomagnesemia and hypokalemia associated with metabolic abnormalities that may occur as a result of nutritional support (oral, enteral or parenteral) in severely malnourished patients. To evaluate its causes and the preventive dietary measures aiming to reduce the morbimortality. Was conducted literature review in SciELO, LILACS, Medline / PUBMED, Cochrane Library and government websites in Portuguese, English and Spanish. The survey was about the last 15 years, selecting the headings: refeeding syndrome, malnutrition, hypophosphatemia, hypokalemia, hypomagnesemia. The monitoring of metabolic parameters and electrolyte levels before starting nutritional support and periodically during feeding should be based on protocols and the duration of therapy. Patients at high risk and other metabolic complications should be followed closely, and depletion of minerals and electrolytes should be replaced before starting the diet. A multidisciplinary team of nutrition therapy can guide and educate other health professionals in prevention, diagnosis and treatment of the syndrome.

  7. Catastrophic antiphospholipid syndrome and pregnancy. Clinical report.

    Science.gov (United States)

    Khizroeva, J; Bitsadze, V; Makatsariya, A

    2018-01-08

    We have observed the development of a catastrophic antiphospholipid syndrome (CAPS) in a pregnant woman hospitalized at 28 weeks of gestation with a severe preeclampsia. On the same day, an eclampsia attack developed, and an emergency surgical delivery was performed. On the third day, multiorgan failure developed. Examination showed a persistent circulation of lupus anticoagulant, high level of antibodies to cardiolipin, b2-glycoprotein I, and prothrombin. The usual diagnosis of the severe preeclampsia masked a catastrophic antiphospholipid syndrome, exacerbated by the coincident presence of several types of antiphospholipid antibodies. The first pregnancy resulted in a premature birth at 25 weeks, possibly also due to the circulation of antiphospholipid antibodies. The trigger of the catastrophic form development was the pregnancy itself, surgical intervention, and hyperhomocysteinemia. CAPS is the most severe form of antiphospholipid syndrome, manifested in multiple microthrombosis of microcirculation of vital organs and in the development of multiorgan failure against the background of the high level of antiphospholipid antibodies. CAPS is characterized by renal, cerebral, gastrointestinal, adrenal, ovarian, skin, and other forms of microthrombosis. Thrombosis recurrence is typical. Thrombotic microvasculopathy lies at the heart of multiorgan failure and manifests clinically in central nervous system lesions, adrenal insufficiency, and ARDS development. CAPS is a life-threatening condition, therefore, requires an urgent treatment. Optimal treatment of CAPS is not developed. CAPS represent a general medical multidisciplinary problem.

  8. A CLINICAL STUDY OF HELLP SYNDROME

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    Irrinki Vasundhara Jyothi

    2017-01-01

    Full Text Available BACKGROUND HELLP syndrome is an acronym for Haemolysis (H, Elevated Liver Enzymes (EL and Low Platelet (LP. This is a rare complication of preeclampsia (10-15%. HELLP syndrome may develop even without hypertension. This syndrome is manifested by nausea, vomiting, epigastric or right upper quadrant pain along with haematological changes. Parenchymal necrosis of liver causes elevation in hepatic enzymes (AST and ALT >70 IU/L, LDH >600 IU/L and bilirubin (>1.2 mg/dL. There may be subcapsular haematoma formation (which is diagnosed by CT scanning and abnormal peripheral blood smear. Eventually, liver may rupture to cause sudden hypotension due to haemoperitoneum. Periportal haemorrhagic necrosis of the liver occurs due to thrombosis of the arterioles. The necrosis is seen at the periphery of the lobule. There may be subcapsular haemorrhage. Hepatic insufficiency seldom occurs because of the capacity and regenerative ability of liver cells. Liver function tests are especially abnormal in women with HELLP syndrome. A sincere effort has been put to study the HELLP syndrome incidence and its clinical prognosis and to understand its outcome. MATERIALS AND METHODS Forty patients were selected whose BP was recorded more than 140/80 mmHg after twenty weeks of gestation. Peripheral smear were taken to check for haemolysis or elevated indirect bilirubin or elevated LDH levels were checked, elevated liver enzymes and decreased platelet count <1,00,000/cumm was noted. Incidence of HELLP syndrome was found and various clinical features presented and the complications faced by the patients were recorded. Prompt treatment was given and the outcome of the disease was noted. All the statistical analysis was done using the latest SPSS software 2015 (California. RESULTS The mean age of the study group was found to be 26.72 years with a standard deviation of 5.62 years. In our study, the mean haemoglobin level was found to be 6.41 gm%, which is very low compared to the

  9. A Rare Chromosome 3 Imbalance and Its Clinical Implications

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    Karen Sims

    2012-01-01

    Full Text Available The duplication of chromosome 3q is a rare disorder with varying chromosomal breakpoints and consequently symptoms. Even rarer is the unbalanced outcome from a parental inv(3 resulting in duplicated 3q and a deletion of 3p. Molecular karyotyping should aid in precisely determining the length and breakpoints of the 3q+/3p− so as to better understand a child’s future development and needs. We report a case of an infant male with a 57.5 Mb duplication from 3q23-qter. This patient also has an accompanying 1.7 Mb deletion of 3p26.3. The duplicated segment in this patient encompasses the known critical region of 3q26.3-q27, which is implicated in the previously reported 3q dup syndrome; however, the accompanying 3p26.3 deletion is smaller than the previously reported cases. The clinical phenotype of this patient relates to previously reported cases of 3q+ that may suggest that the accompanying 1.7 Mb heterozygous deletion is not clinically relevant. Taken together, our data has refined the location and extent of the chromosome 3 imbalance, which will aid in better understanding the molecular underpinning of the 3q syndrome.

  10. Diagnosis and clinical genetics of Cushing syndrome in pediatrics

    Science.gov (United States)

    Stratakis, Constantine A.

    2016-01-01

    SYNOPSIS Endogenous Cushing syndrome (CS) in pediatrics is rare; it may be caused by tumors that produce corticotropin (ACTH) in the pituitary gland (this form of CS is called Cushing disease) or elsewhere (ectopic CS), tumors that produce corticotropin-releasing hormone (CRH) anywhere (mostly neuroendocrine tissues), and finally adrenocortical masses that produce cortisol, such as adrenocortical cancer (ACC) or adenomas, and bilateral adrenocortical hypeprlasia (BAHs). ACC is a very rare cause of CS in children but should be excluded first, especially among younger patients. CS in children is often caused by germline or somatic mutations in an expanding list of genes with implications for the prognosis of the patients and for their families. CS should be early recognized in children; otherwise, it can lead to significant morbidity and mortality. All patients with suspected CS should be referred to specialized clinical centers for work-up; these centers should have access to experienced endocrine and neurological surgeons. PMID:27241967

  11. Polycystic ovarian syndrome: clinical and biological diagnosis.

    Science.gov (United States)

    Bachelot, Anne

    2016-12-01

    Polycystic ovary syndrome (PCOS) is the most common ovarian disorder associated with androgen excess in women, which justifies the growing interest of endocrinologists. This syndrome leads to clinical hyperandrogenism and/or a biological dysovulation and infertility. Its diagnosis is based on consensual diagnostic criteria, but which are likely to change in the near future with the rise of the interest of new markers such as AMH. Diagnostic tools of PCOS are also discussed, with emphasis on the laboratory evaluation of androgens and other potential biomarkers of ovarian and metabolic dysfunctions. The exact etiology of PCOS is unknown and is likely multifactorial. Many studies indicate that PCOS results from originally ovarian abnormalities. In some patients, secondary hyperinsulinemia with insulin resistance plays a role in the pathophysiology. In addition, the relevant impact of metabolic issues, specifically insulin resistance and obesity, on the pathogenesis of PCOS, and the susceptibility to develop earlier than expected glucose intolerance states, including type 2 diabetes, has supported the notion that these aspects should be considered when defining the PCOS phenotype and planning potential therapeutic strategies in an affected subject.

  12. Clinical management of the hypereosinophilic syndromes.

    Science.gov (United States)

    Cogan, Elie; Roufosse, Florence

    2012-06-01

    Hypereosinophilic syndromes (HESs) are rare disorders characterized by marked hypereosinophilia that is directly responsible for organ damage or dysfunction. Different pathogenic mechanisms have been discovered in patient subgroups leading to the characterization of myeloproliferative and lymphocytic disease variants. In the updated terminology, idiopathic HES is now restricted to patients with HES of undetermined etiology. The practical clinical approach of patients with the different HES variants is reviewed herein, focusing on specific diagnostic tools and therapeutic options. Corticosteroids, hydroxyurea and IFN-α remain the classical agents for treatment of most patients with HESs. The specific role of therapeutic compounds that have become available more recently, namely, tyrosine kinase inhibitors and IL-5 antagonists, is discussed.

  13. Perinatal clinical and imaging features of CLOVES syndrome

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    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.)

  14. Intestinal Failure: New Definition and Clinical Implications.

    Science.gov (United States)

    Kappus, Matthew; Diamond, Sarah; Hurt, Ryan T; Martindale, Robert

    2016-09-01

    Intestinal failure (IF) is a state in which the nutritional demands of the body are not met by the gastrointestinal absorptive surface. It is a long-recognized complication associated with short bowel syndrome, which results in malabsorption after significant resection of the intestine for many reasons or functional dysmotility. Etiologies have included Crohn's disease, vascular complications, and the effects of radiation enteritis, as well as the effects of intestinal obstruction, dysmotility, or congenital defects. While IF has been long-recognized, it has historically not been uniformly defined, which has made both recognition and management challenging. This review examines the previous definitions of IF as well as the newer definition and classification of IF and how it is essential to IF clinical guidelines.

  15. The Usher's Syndrome Adolescent: Programming Implications for School Administrators, Teachers, and Residential Advisors.

    Science.gov (United States)

    Hicks, Wanda M.; Hicks, Doin E.

    1981-01-01

    The article examines educational programing implications for adolescents with Usher's syndrome, a condition of congenital deafness accompanied by progressive loss of vision through retinitis pigmentosa. (DB)

  16. Lynch syndrome in the 21st century: clinical perspectives.

    Science.gov (United States)

    Tiwari, A K; Roy, H K; Lynch, H T

    2016-03-01

    Lynch syndrome (LS) is the most common of all inherited cancer syndromes, associated with substantially elevated risks for colonic and extracolonic malignancies, earlier onset and high rates of multiple primary cancers. At the genetic level, it is caused by a defective mismatch repair (MMR) system due to presence of germline defects in at least one of the MMR genes- MLH1, MSH2, MSH6, PMS2 or EPCAM. An impaired MMR function during replication introduces infidelity in DNA sequence and leads to ubiquitous mutations at simple repetitive sequences (microsatellites), causing microsatellite instability (MSI). Although previously, clinicopathological criteria such as Amsterdam I/II and Revised Bethesda Guidelines were commonly used to identify suspected LS mutation carriers, there has been a recent push towards universally testing, especially in case of colorectal cancers (CRCs), through immunohistochemistry for expression of MMR proteins or through molecular tests (polymerase chain reaction, PCR) for MSI, in order to identify LS mutation carriers and subject them to genetic testing to ascertain the specific gene implicated. In this review, we have discussed the latest diagnostic strategies and the current screening and treatment guidelines for colonic and extracolonic cancers in clinically affected and at-risk individuals for LS. © The Author 2015. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  17. Polycystic ovary syndrome: clinical and laboratory evaluation

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    Marcos Yorghi Khoury

    Full Text Available OBJECTIVE: To evaluate clinically, and with laboratory, tests, women with polycystic ovary syndrome (PCO. PATIENTS: One hundred and twelve women with PCO were studied. METHODS: The following data was recorded: Current age; age at menarche; menstrual irregularity, occurrence of similar cases in the family; fertility, obstetric history; body mass index (BMI; and presence of hirsutism. Serum measurements of follicle stimulating hormone (FSH, luteinizing hormone (LH, prolactin, free testosterone, and dehydroepiandrosterone sulfate were taken. RESULTS: All patients presented either oligomenorrhea (31 percent, periods of secondary amenorrhea (9 percent, or both alterations (60 percent. The majority of the patients were infertile (75.6 percent. The LH/FSH ratio was higher than 2:1 in 55 percent of the patients and higher than 3:1 in 26.2 percent. The ultrasonographic aspect of the ovaries was considered to be normal in 31 percent. CONCLUSION: The main clinical feature of the PCO is the irregularity of menses since menarche, and that the laboratory tests would be important to exclude other disorders such as hyperprolactinemia or hyperandrogenemia caused by late-onset congenital adrenal hyperplasia.

  18. A neurophysiological approach to tinnitus: clinical implications.

    Science.gov (United States)

    Jastreboff, P J; Hazell, J W

    1993-02-01

    This paper presents a neurophysiological approach to tinnitus and discusses its clinical implications. A hypothesis of discordant damage of inner and outer hair cells systems in tinnitus generation is outlined. A recent animal model has facilitated the investigation of the mechanisms of tinnitus and has been further refined to allow for the measurement of tinnitus pitch and loudness. The analysis of the processes involved in tinnitus detection postulates the involvement of an abnormal increase of gain within the auditory system. Moreover, it provides a basis for treating patients with hyperacusis, which we are considering to be a pre-tinnitus state. Analysis of the process of tinnitus perception allows for the possibility of facilitating the process of tinnitus habituation for the purpose of its alleviation. The combining of theoretical analysis with clinical findings has resulted in the creation of a multidisciplinary Tinnitus Centre. The foundation of the Centre focuses on two goals: the clinical goal is to remove tinnitus perception from the patient's consciousness, while directing research toward finding a mechanism-based method for the suppression of tinnitus generators and processes responsible for enhancement of tinnitus-related neuronal activity.

  19. Glutamate in schizophrenia: clinical and research implications.

    Science.gov (United States)

    Goff, D C; Wine, L

    1997-10-30

    The excitatory amino acids, glutamate and aspartate, are of interest to schizophrenia research because of their roles in neurodevelopment, neurotoxicity and neurotransmission. Recent evidence suggests that densities of glutamatergic receptors and the ratios of subunits composing these receptors may be altered in schizophrenia, although it is unclear whether these changes are primary or compensatory. Agents acting at the phencyclidine binding site of the NMDA receptor produce symptoms of schizophrenia in normal subjects, and precipitate relapse in patients with schizophrenia. The improvement of negative symptoms with agents acting at the glycine modulatory site of the NMDA receptor, as well as preliminary evidence that clozapine may differ from conventional neuroleptic agents in its effects on glutamatergic systems, suggest that clinical implications may follow from this model. While geriatric patients may be at increased risk for glutamate-mediated neurotoxicity, very little is known about the specific relevance of this model to geriatric patients with schizophrenia.

  20. Brain microbleeds: Epidemiology and clinical implications.

    Science.gov (United States)

    Boyano, I; Bravo, N; Miranda, J; Gil-Gregorio, P; Olazarán, J

    2016-06-22

    Brain microbleeds (BMB) are haemosiderin deposits contained within macrophages, which are displayed as hypointense images in some T2-weighted magnetic resonance imaging sequences. There are still many questions to be answered about the pathophysiology and clinical relevance of BMB. We conducted a literature review of the main epidemiological, clinical, and anatomical pathology studies of BMB performed in the general population, in patients at risk of or already suffering from a vascular disease, and in patients with cognitive impairment. We analysed the prevalence of BMB, risk factors, and potential pathophysiological mechanisms and clinical implications. The prevalence of BMB is highly variable (3%-27% in the general population, 6%-80% in patients with vascular risk factors or vascular disease, and 16%-45% in patients with cognitive impairment). BMB are associated with ageing, Alzheimer disease (AD), and in particular haemorrhagic or ischaemic cerebrovascular disease. The pathological substrate of BMB is either lipohyalinosis (subcortical BMB) or cerebral amyloid angiopathy (lobar BMB). BMB exacerbate cognitive impairment, possibly through cortical-subcortical and intracortical disconnection, and increase the risk of death, mostly due to vascular causes. BMB also increase the risk of cerebral haemorrhage, particularly in patients with multiple lobar BMB (probable erebral amyloid angiopathy). Therefore, anticoagulant treatment may be contraindicated in these patients. In patients with lower risk of bleeding, the new oral anticoagulants and the combination of clinical and magnetic resonance imaging follow-up could be helpful in the decision-making process. Copyright © 2016 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  1. Cognitive impairment, clinical severity and MRI changes in MELAS syndrome.

    Science.gov (United States)

    Kraya, Torsten; Neumann, Lena; Paelecke-Habermann, Yvonne; Deschauer, Marcus; Stoevesandt, Dietrich; Zierz, Stephan; Watzke, Stefan

    2017-12-29

    To examine clinical severity, cognitive impairment, and MRI changes in patients with MELAS syndrome. Cognitive-mnestic functions, brain MRI (lesion load, cella media index) and clinical severity of ten patients with MELAS syndrome were examined. All patients carried the m.3243A>G mutation. The detailed neuropsychological assessment revealed cognitive deficits in attention, executive function, visuoperception, and -construction. There were significant correlations between these cognitive changes, lesion load in MRI, disturbances in everyday life (clinical scale), and high scores in NMDAS. Patients with MELAS syndrome showed no global neuropsychological deficit, but rather distinct cognitive deficits. Copyright © 2018 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

  2. Clinical correlates of the restless legs syndrome

    Directory of Open Access Journals (Sweden)

    Luis Fabiano Marin

    2012-07-01

    Full Text Available OBJECTIVE: To determine the clinical correlates of the restless legs syndrome (RLS in a Brazilian sleep disorders center. METHODS: We retrospectively studied 118 patients with RLS from January, 2004, to December, 2010. The analyzed variables were: age at disease onset, gender, race, years of school instruction, primary and secondary RLS, and treatment options. RESULTS: Among the studied patients, 83.9% were women with a female/male sex ratio of 5:1. Mean age of the patients at symptom onset ± standard deviation was 41.7±17.9 years-old. The primary RLS was found in 85% of patients. The other 15% remainders consisted of secondary forms, and they were associated with neuropathy, iron deficiency anemia, end-stage renal disease, or Parkinson's disease. Drug therapy for RLS was introduced in 67% of patients. CONCLUSIONS: Most patients presented primary RLS with an early disease onset. Further epidemiological studies are welcomed to provide better information on secondary RLS in Brazil.

  3. Urodilatin, a natriuretic peptide with clinical implications.

    Science.gov (United States)

    Meyer, M; Richter, R; Forssmann, W G

    1998-02-21

    Natriuretic peptides (NP) constitute hormonal systems of great clinical impact. This report deals with Urodilatin (URO), a renal natriuretic peptide type A. From the gene of NP type A, a message for the preprohormone is transcribed in heart and kidney. The cardiac prohormone CDD/ANP-1-126 is synthesized in the heart atrium and processed during exocytosis forming the circulating hormone CDD/ANP-99-126. URO (CDD/ANP 95-126) is a product from the same gene, but differentially processed in the kidney and detected only in urine. Physiologically, URO acts in a paracrine fashion. After release from distal tubular kidney cells into the tubular lumen, URO binds to luminal receptors (NPR-A) in the collecting duct resulting in a cGMP-dependent signal transduction. cGMP generation is followed by an interaction with the amiloriode-sensitive sodium channel which induces diuresis and natriuresis. In this way, URO physiologically regulates fluid balance and sodium homeostasis. Moreover, URO excretion and natriuresis are in turn dependent on several physiological states, such as directly by sodium homeostasis. Pharmacologically, URO at low dose administered intravenously shows a strong diuretic and natriuretic effect and a low hypotensive effect. Renal, pulmonary, and cardiovascular effects evoked by pharmacological doses indicate that URO is a putative drug for several related diseases. Clinical trials show promising results for various clinical indications. However, the reduction in hemodialysis/hemofiltration in patients suffering from ARF following heart and liver transplantation, derived from preliminary trials recruiting a small number of patients, was not confirmed by a multicenter phase II study. In contrast, data for the prophylactic use of URO in this clinical setting suggest a better outcome for the patients. Furthermore, treatment of asthmatic patients showed a convincingly beneficial effect of URO on pulmonary function. Patients with congestive heart failure may also

  4. Clinical Characteristics of Dry Eye Patients With Chronic Pain Syndromes

    NARCIS (Netherlands)

    Vehof, Jelle; Smitt-Kamminga, Nicole Sillevis; Kozareva, Diana; Nibourg, Simone A.; Hammond, Christopher J.

    PURPOSE: To investigate clinical characteristics of dry eye disease (DED) patients with a chronic pain syndrome. DESIGN: Cross-sectional. study. METHODS: Four hundred twenty-five patients of a tertiary care DED patient cohort in the Netherlands were included. Chronic pain syndromes irritable bowel

  5. Clinical features of the exploding head syndrome.

    Science.gov (United States)

    Pearce, J M

    1989-07-01

    Fifty patients suffering from the "exploding head syndrome" are described. This hitherto unreported syndrome is characterised by a sense of an explosive noise in the head usually in the twilight stage of sleep. The associated symptoms are varied, but the benign nature of the condition is emphasised and neither extensive investigation nor treatment are indicated.

  6. Clinical features of the exploding head syndrome.

    OpenAIRE

    Pearce, J M

    1989-01-01

    Fifty patients suffering from the "exploding head syndrome" are described. This hitherto unreported syndrome is characterised by a sense of an explosive noise in the head usually in the twilight stage of sleep. The associated symptoms are varied, but the benign nature of the condition is emphasised and neither extensive investigation nor treatment are indicated.

  7. Frey's syndrome - unusually long delayed clinical onset ...

    African Journals Online (AJOL)

    Frey's syndrome is a complication of parotidectomy that is thought to occur as a result of aberrant regeneration of the postganglionic parasympathetic nerve fibres supplying the parotid gland to severed ostganglionic sympathetic fibres which innervate the sweat glands of the face. Frey's syndrome is difficult to treat but is a ...

  8. Arteriohepatic Dysplasia (Alagille Syndrome in a Child (Clinical Case

    Directory of Open Access Journals (Sweden)

    Ye.V. Omelchenko

    2015-03-01

    Full Text Available The article presents a clinical case of a child with a rare nosology — Alagille syndrome. Among the causes of neonatal cholestasis, Alagille syndrome is ranked second, it occurs with an incidence of 1 per 70,000 of newborns. This syndrome is characterized by an insufficient number or by a small dia­meter of intrahepatic bile ducts, which carry bile from the liver. Alagille syndrome includes a combination of at least three of the five main symptoms: chronic cholestasis, cardiovascular defects, abnormalities of the spine, eye defects, typical craniofacial signs. The only definitive therapy with the formation of liver cirrhosis and without gross defects is liver transplantation.

  9. Meier-Gorlin syndrome Clinical genetics and genomics

    NARCIS (Netherlands)

    De Munnik, Sonja A.; Hoefsloot, Elisabeth H.; Roukema, Jolt; Schoots, Jeroen; Knoers, Nine Vam; Brunner, Han G.; Jackson, Andrew P.; Bongers, Ernie Mhf

    2015-01-01

    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females

  10. Meier-Gorlin syndrome Clinical genetics and genomics

    NARCIS (Netherlands)

    S. de Munnik (Sonja); E.H. Hoefsloot (Lies); J. Roukema (Jolt); J. Schoots (Jeroen); N.V.A.M. Knoers (Nine); H.G. Brunner; A.P. Jackson (Andrew); E. Bongers (Ernie)

    2015-01-01

    textabstractMeier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia

  11. Central Hyperexcitability in Chronic Musculoskeletal Pain: A Conceptual Breakthrough with Multiple Clinical Implications

    Directory of Open Access Journals (Sweden)

    Jan Lidbeck

    2002-01-01

    Full Text Available Recent investigations of dysfunctional pain processing in the central nervous system have contributed much knowledge about the development of chronic musculoskeletal pain. Many common chronic musculoskeletal pain syndromes - including regional myofascial pain syndromes, whiplash pain syndromes, refractory work-related neck-shoulder pain, certain types of chronic low back pain, fibromyalgia and others - may essentially be explained by abnormalities in central pain modulation. The growing awareness of dysfunctional central pain modulation may be a conceptual breakthrough leading to a better understanding of common chronic pain disorders. A new paradigm will have multiple clinical implications, including re-evaluation of clinical practice routines and rehabilitation methods, and will focus on controversial issues of medicolegal concern. The concept of dysfunctional central pain processing will also necessitate a mechanism-based classification of pain for the selection of individual treatment and rehabilitation programs for subgroups of patients with chronic musculoskeletal pain due to different pathophysiological mechanisms.

  12. Clinical review: Ethnic differences in bone mass--clinical implications.

    Science.gov (United States)

    Leslie, William D

    2012-12-01

    Differences in bone mineral density (BMD) as assessed with dual-energy x-ray absorptiometry are observed between geographic and ethnic groups, with important implications in clinical practice. PubMed was employed to identify relevant studies. A review of the literature was conducted, and data were summarized and integrated. The available data highlight the complex ethnic variations in BMD, which only partially account for observed variations in fracture rates. Factors contributing to ethnic differences include genetics, skeletal size, body size and composition, lifestyle, and social determinants. Despite BMD differences, the gradient of risk for fracture from BMD and other clinical risk factors appears to be similar across ethnic groups. Furthermore, BMD variation is greater within an ethnic population than between ethnic populations. New imaging technologies have identified ethnic differences in bone geometry, volumetric density, microarchitecture, and estimated bone strength that may contribute to a better understanding of ethnic differences in fracture risk. Factors associated with ethnicity affect BMD and fracture risk through direct and indirect mechanisms.

  13. Noonan syndrome: a clinical and genetic study of 31 patients

    Directory of Open Access Journals (Sweden)

    Bertola Débora Romeo

    1999-01-01

    Full Text Available Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%; craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%; cardiac anomalies (65%, and fetal pads in fingers and toes (70%. After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

  14. Clinical implications of vitamin D deficiency

    Directory of Open Access Journals (Sweden)

    Beata Matyjaszek-Matuszek

    2015-06-01

    Full Text Available Vitamin D deficiency is a common medical problem worldwide and its prevalence rises along with latitude, obesity, sedentary lifestyle, limited sunlight exposure and aging. A great body of evidence has shown that patients with vitamin D deficiency have increased cardiovascular risks and total mortality. Conversely, the presence of comorbidities progressive with age such as abdominal obesity, insulin resistance, type 2 diabetes and hypertension places the patients at an increased risk of vitamin D deficiency. The multidirectional effect of vitamin D deficiency is present in different phases of the aging process. Based on the literature review, the risk factors for vitamin D insufficiency most often found in post-menopausal women include limited sun exposure and time spent outdoors, inadequate dietary vitamin D intake, winter season and increased age. Vitamin D supplementation in this group might offer prevention of falls and fractures and may be beneficial for cardiovascular health, what may be especially important in osteoporotic and elderly populations. Prevention and treatment processes involve education regarding sunlight exposure and pharmacological cholecalciferol supplementation according to the recommendations for Central Europe. This manuscript reviews the role of vitamin D and its deficiency and considers their clinical implications, with particular regard to peri- and postmenopausal women.

  15. Prostate cancer epigenetics and its clinical implications.

    Science.gov (United States)

    Yegnasubramanian, Srinivasan

    2016-01-01

    Normal cells have a level of epigenetic programming that is superimposed on the genetic code to establish and maintain their cell identity and phenotypes. This epigenetic programming can be thought as the architecture, a sort of cityscape, that is built upon the underlying genetic landscape. The epigenetic programming is encoded by a complex set of chemical marks on DNA, on histone proteins in nucleosomes, and by numerous context-specific DNA, RNA, protein interactions that all regulate the structure, organization, and function of the genome in a given cell. It is becoming increasingly evident that abnormalities in both the genetic landscape and epigenetic cityscape can cooperate to drive carcinogenesis and disease progression. Large-scale cancer genome sequencing studies have revealed that mutations in genes encoding the enzymatic machinery for shaping the epigenetic cityscape are among the most common mutations observed in human cancers, including prostate cancer. Interestingly, although the constellation of genetic mutations in a given cancer can be quite heterogeneous from person to person, there are numerous epigenetic alterations that appear to be highly recurrent, and nearly universal in a given cancer type, including in prostate cancer. The highly recurrent nature of these alterations can be exploited for development of biomarkers for cancer detection and risk stratification and as targets for therapeutic intervention. Here, we explore the basic principles of epigenetic processes in normal cells and prostate cancer cells and discuss the potential clinical implications with regards to prostate cancer biomarker development and therapy.

  16. Prostate cancer epigenetics and its clinical implications

    Directory of Open Access Journals (Sweden)

    Srinivasan Yegnasubramanian

    2016-01-01

    Full Text Available Normal cells have a level of epigenetic programming that is superimposed on the genetic code to establish and maintain their cell identity and phenotypes. This epigenetic programming can be thought as the architecture, a sort of cityscape, that is built upon the underlying genetic landscape. The epigenetic programming is encoded by a complex set of chemical marks on DNA, on histone proteins in nucleosomes, and by numerous context-specific DNA, RNA, protein interactions that all regulate the structure, organization, and function of the genome in a given cell. It is becoming increasingly evident that abnormalities in both the genetic landscape and epigenetic cityscape can cooperate to drive carcinogenesis and disease progression. Large-scale cancer genome sequencing studies have revealed that mutations in genes encoding the enzymatic machinery for shaping the epigenetic cityscape are among the most common mutations observed in human cancers, including prostate cancer. Interestingly, although the constellation of genetic mutations in a given cancer can be quite heterogeneous from person to person, there are numerous epigenetic alterations that appear to be highly recurrent, and nearly universal in a given cancer type, including in prostate cancer. The highly recurrent nature of these alterations can be exploited for development of biomarkers for cancer detection and risk stratification and as targets for therapeutic intervention. Here, we explore the basic principles of epigenetic processes in normal cells and prostate cancer cells and discuss the potential clinical implications with regards to prostate cancer biomarker development and therapy.

  17. Savant Syndrome: Clinical and Neuropsychological Features

    OpenAIRE

    Ibrahim Durukan; Tumer Turkbay

    2010-01-01

    Savant syndrome defines the people who have severe developmental and mental disabilities but also have extraordinary mental skills which are missing in many people. Although general mental capacity is under average mental level, savant has excessive knowledge about one or more domains. It is accepted that as many as one in 10 persons with autistic disorder have such remarkable abilities in varying degrees, although savant syndrome occurs in other developmental disabilities or in other types o...

  18. Antineuronal Autoantibodies : Molecular Characterization and Clinical Implication

    NARCIS (Netherlands)

    Hameete, M.H.|info:eu-repo/dai/nl/371750539

    2017-01-01

    Neurological autoimmune disorders associated with antineuronal autoantibodies result from an immune reaction directed at neuronal self-antigens. When affecting the central nervous system these can be divided into two subgroups: ‘classical’ paraneoplastic neurological syndromes (PNS) and autoimmune

  19. Anesthetic implications of emergent Cesarean section in a parturient with Noonan syndrome and bacterial endocarditis.

    Science.gov (United States)

    Chase, Charles J; Holak, Elena J; Pagel, Paul S

    2013-08-01

    Noonan syndrome is a relatively common genetically transmitted disorder characterized by facial, cardiac, and musculoskeletal abnormalities. The management of a 27 year old woman with Noonan syndrome at 23 weeks' gestation, presenting with premature labor, who required an emergent Cesarean section for placental abruption, is discussed. In addition to Noonan syndrome, this patient had bacterial endocarditis involving the mitral and aortic valves. The anesthetic implications of Noonan syndrome and endocarditis during pregnancy are presented. © 2013 Elsevier Inc. All rights reserved.

  20. Syndromic classification of rickettsioses: an approach for clinical practice

    Directory of Open Access Journals (Sweden)

    Álvaro A. Faccini-Martínez

    2014-11-01

    Full Text Available Rickettsioses share common clinical manifestations, such as fever, malaise, exanthema, the presence or absence of an inoculation eschar, and lymphadenopathy. Some of these manifestations can be suggestive of certain species of Rickettsia infection. Nevertheless none of these manifestations are pathognomonic, and direct diagnostic methods to confirm the involved species are always required. A syndrome is a set of signs and symptoms that characterizes a disease with many etiologies or causes. This situation is applicable to rickettsioses, where different species can cause similar clinical presentations. We propose a syndromic classification for these diseases: exanthematic rickettsiosis syndrome with a low probability of inoculation eschar and rickettsiosis syndrome with a probability of inoculation eschar and their variants. In doing so, we take into account the clinical manifestations, the geographic origin, and the possible vector involved, in order to provide a guide for physicians of the most probable etiological agent.

  1. Savant Syndrome: Clinical and Neuropsychological Features

    Directory of Open Access Journals (Sweden)

    Ibrahim Durukan

    2010-08-01

    Full Text Available Savant syndrome defines the people who have severe developmental and mental disabilities but also have extraordinary mental skills which are missing in many people. Although general mental capacity is under average mental level, savant has excessive knowledge about one or more domains. It is accepted that as many as one in 10 persons with autistic disorder have such remarkable abilities in varying degrees, although savant syndrome occurs in other developmental disabilities or in other types of central nervous system injury or disease as well. Males outnumber females by an approximate 6 : 1 ratio in savant syndrome. Savant skills are limited to five general categories. These are music, art, calender calculating, mathematics and mechanical or spatial skills. Savant skills can also be divided into three as savants who have splinter skills, talented savants and prodigious savants. A remarkable memory welds to the special abilities determined in savant syndrome. Savant syndrome can be congenital or it can be acquired. Most often savant skills emerge in childhood, superimposed on some underlying developmental disability present at birth. However, acquired savant skills can also appear, when none were previously present, in neurotypical individuals following brain injury or disease later in infancy, childhood or adult life. Savant skills don’t depend on only rote memory. It is approved that an enhanced or spared ability to represent and manipulate highly organised domain-specific information. Various theoretic models were defined to explain the neuropsychological profile in savant syndrome. Interest in savants has a long history, stretching back to the early 18th century; nevertheless, the savant syndrome remains as much a mystery now as it did when it was first described. Given that many questions about the existence and nature of savant talent remain unanswered, it seems likely that research efforts will continue unabated.

  2. Polycystic ovary syndrome and chronic inflammation: pharmacotherapeutic implications.

    Science.gov (United States)

    Sirmans, Susan Maureen; Weidman-Evans, Emily; Everton, Victoria; Thompson, Daniel

    2012-03-01

    To examine the relationship between polycystic ovary syndrome (PCOS), cardiovascular risk factors, cardiovascular disease (CVD), and chronic inflammation and analyze data regarding pharmacologic therapies that are recommended to reduce CVD risk in PCOS and the impact of those therapies on chronic inflammation. A search of MEDLINE (1950-October 2011) was conducted to identify clinical studies pertaining to the identification and treatment of CVD and chronic low-grade inflammation in PCOS. Search terms included polycystic ovary syndrome, cardiovascular disease, inflammation, metformin, thiazolidinedione, and statin. Bibliographies of these studies and review articles were also examined. English-language clinical studies evaluating the effect of metformin, thiazolidinediones, and statins on inflammatory markers, endothelial function, adhesion molecules, fibrinolysis, cytokines, and adipokines in PCOS were included. Women with PCOS have an increased prevalence of many cardiovascular risk factors including obesity, android fat distribution, insulin resistance, impaired glucose tolerance, diabetes, dyslipidemia, hypertension, and metabolic syndrome. Markers of chronic low-grade inflammation, which are associated with an increased risk of CVD, are also elevated in PCOS. Clinical guidelines recommend the use of insulin sensitizers and statins to prevent CVD in some patients with PCOS. Current literature indicates that each of these medication classes has beneficial effects on inflammation, as well. Although there are currently no studies to determine whether these treatments decrease CVD in PCOS, it can be hypothesized that drugs impacting chronic inflammation may reduce cardiovascular risk. Some studies show that metformin, thiazolidinediones, and statins have beneficial effects on inflammatory markers in PCOS; however, the data are inconsistent. There is insufficient information to recommend any pharmacologic therapies for their antiinflammatory effects in PCOS in the

  3. Neurobiology and clinical implications of lucid dreaming.

    Science.gov (United States)

    Mota-Rolim, Sérgio A; Araujo, John F

    2013-11-01

    Several lines of evidence converge to the idea that rapid eye movement sleep (REMS) is a good model to foster our understanding of psychosis. Both REMS and psychosis course with internally generated perceptions and lack of rational judgment, which is attributed to a hyperlimbic activity along with hypofrontality. Interestingly, some individuals can become aware of dreaming during REMS, a particular experience known as lucid dreaming (LD), whose neurobiological basis is still controversial. Since the frontal lobe plays a role in self-consciousness, working memory and attention, here we hypothesize that LD is associated with increased frontal activity during REMS. A possible way to test this hypothesis is to check whether transcranial magnetic or electric stimulation of the frontal region during REMS triggers LD. We further suggest that psychosis and LD are opposite phenomena: LD as a physiological awakening while dreaming due to frontal activity, and psychosis as a pathological intrusion of dream features during wake state due to hypofrontality. We further suggest that LD research may have three main clinical implications. First, LD could be important to the study of consciousness, including its pathologies and other altered states. Second, LD could be used as a therapy for recurrent nightmares, a common symptom of depression and post-traumatic stress disorder. Finally, LD may allow for motor imagery during dreaming with possible improvement of physical rehabilitation. In all, we believe that LD research may clarify multiple aspects of brain functioning in its physiological, altered and pathological states. Copyright © 2013 The Authors. Published by Elsevier Ltd.. All rights reserved.

  4. Clinical consequences and economic costs of untreated obstructive sleep apnea syndrome

    Directory of Open Access Journals (Sweden)

    Melissa Knauert

    2015-09-01

    Full Text Available Objective: To provide an overview of the healthcare and societal consequences and costs of untreated obstructive sleep apnea syndrome. Data sources: PubMed database for English-language studies with no start date restrictions and with an end date of September 2014. Methods: A comprehensive literature review was performed to identify all studies that discussed the physiologic, clinical and societal consequences of obstructive sleep apnea syndrome as well as the costs associated with these consequences. There were 106 studies that formed the basis of this analysis. Conclusions: Undiagnosed and untreated obstructive sleep apnea syndrome can lead to abnormal physiology that can have serious implications including increased cardiovascular disease, stroke, metabolic disease, excessive daytime sleepiness, work-place errors, traffic accidents and death. These consequences result in significant economic burden. Both, the health and societal consequences and their costs can be decreased with identification and treatment of sleep apnea. Implications for practice: Treatment of obstructive sleep apnea syndrome, despite its consequences, is limited by lack of diagnosis, poor patient acceptance, lack of access to effective therapies, and lack of a variety of effective therapies. Newer modes of therapy that are effective, cost efficient and more accepted by patients need to be developed. Keywords: Obstructive sleep apnea syndrome, Cost, Continuous positive airway pressure, Mandibular advancement device

  5. Myelodysplastic syndromes: clinical and biological advances

    National Research Council Canada - National Science Library

    Greenberg, Peter L

    2006-01-01

    ..., to a review of recent molecular and cytogenetic discoveries and insights. This book will be a valuable resource for clinicians and researchers who wish to learn more about myelodysplastic syndromes. Peter L. Greenberg is Professor of Medicine at Stanford University Cancer Center, Stanford, and Chief, Hematology Section, VA Palo Alto Health Care Sy...

  6. [Fournier syndrome: report of a clinical case].

    Science.gov (United States)

    La Torre, F; Otti, M; Ruggeri, E; Taglienti, D; Bonanno, L; Bianchini, G P; Veneroso, S; Tintisona, O; Monti, M

    2001-01-01

    The case of a Fournier's syndrome in a 58 years old patient is reported from the Authors that describe the ethiopathogenetic and therapeutic aspects. They analyse the importance of an early surgical treatment associated with antibiotic therapy and later a riparation of the lesions with a myocutaneous skin flap of TLF.

  7. Roberts syndrome: clinical and cytogenetic aspects

    OpenAIRE

    Mann, N P; Fitzsimmons, J; Fitzsimmons, E; Cooke, P

    1982-01-01

    Roberts syndrome is reported in two sibs of consanguineous parents. Both infants had severe tetraphocomelia, facial clefting, and other serious malformations. In addition they were found to have an unusual cytogenetic abnormality with distortion of the normal sister chromatid relationship in many chromosomes.

  8. Trichorhinophalangeal syndrome II, expanding the clinical spectrum

    African Journals Online (AJOL)

    Rabah M. Shawky

    2014-06-17

    Jun 17, 2014 ... an autosomal dominant fashion, most cases of TRPS II are sporadic [1]. TRPS III, is a form of brachydactyly due to short metacarpals and severe .... and broad on both sides (black asterisk), the fifth metacarpal bone has similar yet less pronounced appearance (white asterisk). Langer–Giedion syndrome. 91 ...

  9. An oral clinical approach to Gorlin-Goltz syndrome.

    Science.gov (United States)

    Abreu, Lucas Guimaraes; Paiva, Saul Martins; Pretti, Henrique; Bastos Lages, Elizabeth Maria; Castro, Wagner Henriques

    2015-01-01

    Gorlin-Goltz syndrome is a rare hereditary disease that can have negative effects on one's quality of life. The main clinical features are multiple nevoid basal cell carcinomas, odontogenic keratocysts, congenital skeletal abnormalities, calcification of the falx cerebri, facial dysmorphism, and skin depressions (pits) on the palms and soles. Diagnosis is based on major and minor clinical and radiological criteria and can be confirmed by DNA analysis. This article describes the case of a child with Gorlin-Goltz syndrome and outlines the clinical manifestations of the disease.

  10. Spontaneous esophageal rupture - Boerhaave's syndrome: Clinical symptoms and radiographic findings

    International Nuclear Information System (INIS)

    Gaa, J.; Deininger, H.K.

    1989-01-01

    Spontaneous transmural rupture of the esophagus (Boerhaave's syndrome) is a life-threatening emergency. Prompt diagnosis is essential to a better prognosis, successful operative outcome and patient survival. The chest roentgenogram and the contrast esophagograms to follow are the most helpful diagnostic tests. The clinical manifestations are variable and may be misleading and thus delay accurate recognition. In our case report the major clinical features and radiological signs of Boerhaave's syndrome are described. The pathogenesis, characteristic clinical symptoms and the signs and radiological evaluation are reviewed. (orig.) [de

  11. CLINICAL CASE OF PARKES-WEBER-RUBASHOV SYNDROME

    Directory of Open Access Journals (Sweden)

    Zhdonec S. V.

    2018-03-01

    Full Text Available A clinical case of one variant of congenital venous angiodysplasia – Parkes Weber-Rubashov syndrome of the right lower extremity is presented in the article. The features of its clinical presentation and diagnosis difficulties are described. The analysis of the scientific data and own clinical observation showed that Parkes Weber-Rubashov syndrome belongs to the rare congenital disease of the vascular system, in some cases with the absence of typical clinical manifestations and combination with other disorders of the venous system. The best method for diagnosing the syndrome is radiopaque arteriography. The separation of the patent’s arteriovenous fistulas is justified as a radical method of its surgical treatment.

  12. Personality Disorders and Clinical Syndromes in ADHD Prisoners

    Science.gov (United States)

    Gudjonsson, Gisli H.; Wells, June; Young, Susan

    2012-01-01

    Objective: The main objective of this article is to investigate the type of personality disorders and clinical syndromes (CSs) that were best related to ADHD symptoms among prisoners. Method: The authors screened for childhood and adult ADHD symptoms and administered the Millon Clinical Multiaxial Inventory-III (MCMI-III) to 196 serving prisoners.…

  13. Mounier-Kuhn syndrome: radiological findings and clinical presentation

    Energy Technology Data Exchange (ETDEWEB)

    Bastos, Andrea de Lima [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Unidade de Diagnostico por Imagem; Brito, Isabela Lage Alves, E-mail: andblima@yahoo.com.b [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Dept. de Pneumologia

    2011-05-15

    Mounier-Kuhn syndrome is a rare disease clinically characterized by recurrent respiratory infections. The present report describes a case of this disease with analysis of chest radiography and high resolution computed tomography showing increased caliber of the trachea, main bronchi and central bronchiectasis. Such changes, in association with clinical data, suggest the diagnosis. (author)

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

    Science.gov (United States)

    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.

  15. Three cases of Wolfram syndrome with different clinical aspects.

    Science.gov (United States)

    Çamtosun, Emine; Şıklar, Zeynep; Kocaay, Pınar; Ceylaner, Serdar; Flanagan, Sarah E; Ellard, Sian; Berberoğlu, Merih

    2015-03-01

    Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations. The first case was diagnosed with insulin-dependent diabetes mellitus with positive for pancreatic autoantibodies and had a ketoacidotic attack in the follow-up period. The second case presented initially with optic atrophy and was diagnosed with behavioral and psychiatric problems at an early age. The third case had early onset insulin-dependent diabetes with multiple anomalies and congenital hypothyroidism. Many of these features have not been reported previously in patients with Wolfram syndrome. In all three patients homozygous mutations in WFS1 were identified. Wolfram syndrome is a disease where the characteristic features may present at different times. A diagnosis of Wolfram syndrome should therefore be considered even in the absence of the full spectrum of clinical features.

  16. Dopamine agonist withdrawal syndrome: implications for patient care.

    Science.gov (United States)

    Nirenberg, Melissa J

    2013-08-01

    Dopamine agonists are effective treatments for a variety of indications, including Parkinson's disease and restless legs syndrome, but may have serious side effects, such as orthostatic hypotension, hallucinations, and impulse control disorders (including pathological gambling, compulsive eating, compulsive shopping/buying, and hypersexuality). The most effective way to alleviate these side effects is to taper or discontinue dopamine agonist therapy. A subset of patients who taper a dopamine agonist, however, develop dopamine agonist withdrawal syndrome (DAWS), which has been defined as a severe, stereotyped cluster of physical and psychological symptoms that correlate with dopamine agonist withdrawal in a dose-dependent manner, cause clinically significant distress or social/occupational dysfunction, are refractory to levodopa and other dopaminergic medications, and cannot be accounted for by other clinical factors. The symptoms of DAWS include anxiety, panic attacks, dysphoria, depression, agitation, irritability, suicidal ideation, fatigue, orthostatic hypotension, nausea, vomiting, diaphoresis, generalized pain, and drug cravings. The severity and prognosis of DAWS is highly variable. While some patients have transient symptoms and make a full recovery, others have a protracted withdrawal syndrome lasting for months to years, and therefore may be unwilling or unable to discontinue DA therapy. Impulse control disorders appear to be a major risk factor for DAWS, and are present in virtually all affected patients. Thus, patients who are unable to discontinue dopamine agonist therapy may experience chronic impulse control disorders. At the current time, there are no known effective treatments for DAWS. For this reason, providers are urged to use dopamine agonists judiciously, warn patients about the risks of DAWS prior to the initiation of dopamine agonist therapy, and follow patients closely for withdrawal symptoms during dopamine agonist taper.

  17. Personal Narratives: Cultural Differences and Clinical Implications

    Science.gov (United States)

    Bliss, Lynn S.; McCabe, Allyssa

    2008-01-01

    A study was conducted to examine the misdiagnosis of cultural difference deficits and how mistaking deficits in narrative production for cultural differences can be avoided. Findings reveal the implications for intervention.

  18. Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

    Directory of Open Access Journals (Sweden)

    Ozyurt Abdullah

    2015-06-01

    Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

  19. Clinical Syndromes Associated with Cardiovascular Diseases: A Review

    Directory of Open Access Journals (Sweden)

    Xing Sheng Yang, MD, PhD, FACC, FAHA

    2017-02-01

    Full Text Available In clinical practice, a variety of syndromes are associated with cardiovascular disease and have characteristic findings. Most of them are an autosomal dominant genetic disorder and have different types of cardiovascular abnormalities, including electrocardiographic conduction defects, arrhythmias, cardiomyopathy, vascular and valvular diseases, cardiac septal defects, and pulmonary problems. There is a growing need for physicians to pay more attention to these syndromes.

  20. The clinical aspects of the acute facet syndrome

    DEFF Research Database (Denmark)

    Hestbaek, Lise; Kongsted, Alice; Jensen, Tue Secher

    2009-01-01

    ABSTRACT: BACKGROUND: The term 'acute facet syndrome' is widely used and accepted amongst chiropractors, but poorly described in the literature, as most of the present literature relates to chronic facet joint pain. Therefore, research into the degree of consensus on the subject amongst a large g...... from the facet joints has been described in the literature. Furthermore, the acute, uncomplicated facet syndrome was considered to have an uncomplicated clinical course, responding quickly to spinal manipulative therapy....

  1. BETA-THALASSEMIA SYNDROMES, CLINICAL AND LABORATORY APPROACH

    OpenAIRE

    Türkkan, Emine; Berrak, Su Gülsün; Canpolat, Cengiz

    2016-01-01

    The Beta ((3) thalassemia syndromes are a heterogeneous group of genetic disorders. The frequency of thalassemia is dependent on the ethnic origins of the patient population. Turkey is located in a geographic area of the world where thalassemia syndromes are common. The incidence rate of (3-thalassemia carriers was stated to be 2 per cent in Turkey. Clinical manifestations are diverse and range from asymptomatic hypochromia and microcytosis to profound anemia leading to death in early childho...

  2. Parkinsonian syndroms: Clinical phenotype, differential diagnosis and disease progression

    International Nuclear Information System (INIS)

    Storch, A.

    2002-01-01

    Parkinsonian syndromes include idiopathic Parkinson's disease (IPD), other neurodegenerative diseases with parkinsonism, the so-called atypical parkinsonian syndromes, and symptomatic parkinsonian syndromes, such as Wilson's disease. IPD is the most frequent disease with parkinsonism as the main clinical feature and is responsible for approx. 80% of all parkinsonian syndromes. Atypical parkinsonian syndromes are the most important differential diagnoses of IPD. The two most frequent types are multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). For clinical diagnosis it is essential to take a careful medical history and to examine the patients physically in regular intervals. However, various clinico-pathological studies have shown that approx. 25% of patients with clinical diagnosis of IPD may have other causes of parkinsonism. Selected technical investigations, in particular functional imaging of the central dopaminergic system using PET or SPECT, may help to make clinical diagnosis more secure. This paper reviews the clinical features and diagnostic findings in diseases with parkinsonism and summarises the difficulties in establishing early and differential diagnoses. (orig.) [de

  3. Clinical Ethics Consultation After God: Implications for Advocacy and Neutrality.

    Science.gov (United States)

    Parker, J Clint

    2018-06-01

    In After God: Morality and Bioethics in a Secular Age, H. Tristram Engelhardt, Jr. explores the broad implications for moral reasoning once a culture has lost a God's-eye perspective. In this paper, I focus on the implications of Engelhardt's views for clinical ethics consultation. I begin by examining the question of whether clinical ethics consultants (CECs) should advocate a particular viewpoint and/or process during consultations or adopt a neutral stance. I then examine the implications of Engelhardt's views for this question. Finally, I discuss some of Engelhardt's foundational ontological, metaphysical, meta-ethical, and epistemological commitments and how these commitments connect to his views on clinical ethics consultation.

  4. Amniotic band syndrome: A clinical brief

    Directory of Open Access Journals (Sweden)

    Dasaradha Ramireddy Malireddy

    2017-01-01

    Full Text Available Amniotic band syndrome (ABS results from bands of amnion entangling fetal parts. They may manifest as constriction rings or complex congenital anomalies resulting in stillbirth. Karyotyping is important for exclusion of inherited disorders and proper counseling. Two case reports one stillbirth and the other with constriction ring of fingers and mild hydronephrosis are presented. The aim of this paper is to make awareness and stress the need for doing thorough work-up in all cases of constriction bands.

  5. Metabolic syndrome: clinical concept and molecular basis.

    Science.gov (United States)

    Funahashi, Tohru; Matsuzawa, Yuji

    2007-01-01

    The metabolic syndrome is a cluster of insulin resistance, elevated blood pressure, and atherogenic dyslipidemia and is a common basis of cardiovascular diseases (CVD). Although the precise mechanism remains to be elucidated, a practical definition is needed. A worldwide definition that considers increased waist circumference as an essential component has been settled. Visceral fat locates upstream of the liver. Free fatty acids and glycerol derived from visceral fat reach the liver and stimulate lipoprotein synthesis and gluconeogenesis, respectively. The adipose tissue produces a variety of bioactive substances conceptualized as 'adipocytokines'. Overproduction of plasminogen activator inhibitor-1 and tumor necrosis factor- seems to relate to the thrombotic and inflammatory tendency. On the other hand, adiponectin, which has antiatherogenic and antidiabetic activities, is reduced in subjects with metabolic syndrome. In Japan, the waist circumference criterion based on visceral fat accumulation has been adopted. The concept of this syndrome has been widely publicized, and health promotion programs based on the concept have commenced in various areas of the country. Such 'Adipo-Do-It' movement is an incentive to encourage physical exercise to reduce visceral fat and is a big challenge to prevent life-style-related diseases and CVD.

  6. Clinical predictors of lacunar syndrome not due to lacunar infarction

    Directory of Open Access Journals (Sweden)

    Comes Emili

    2010-05-01

    Full Text Available Background Lacunar syndrome not due to lacunar infarct is poorly characterised. This single centre, retrospective study was conducted to describe the clinical characteristics of patients with lacunar syndrome not due to lacunar infarct and to identify clinical predictors of this variant of lacunar stroke. Methods A total of 146 patients with lacunar syndrome not due to lacunar infarction were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 19 years (1986-2004. Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The characteristics of these 146 patients with lacunar syndrome not due to lacunar infarct were compared with those of the 733 patients with lacunar infarction. Results Lacunar syndrome not due to lacunar infarct accounted for 16.6% (146/879 of all cases of lacunar stroke. Subtypes of lacunar syndromes included pure motor stroke in 63 patients, sensorimotor stroke in 51, pure sensory stroke in 14, atypical lacunar syndrome in 9, ataxic hemiparesis in 5 and dysarthria-clumsy hand in 4. Valvular heart disease, atrial fibrillation, sudden onset, limb weakness and sensory symptoms were significantly more frequent among patients with lacunar syndrome not due to lacunar infarct than in those with lacunar infarction, whereas diabetes was less frequent. In the multivariate analysis, atrial fibrillation (OR = 4.62, sensorimotor stroke (OR = 4.05, limb weakness (OR = 2.09, sudden onset (OR = 2.06 and age (OR = 0.96 were independent predictors of lacunar syndrome not due to lacunar infarct. Conclusions Although lacunar syndromes are highly suggestive of small deep cerebral infarctions, lacunar syndromes not due to lacunar infarcts are found in 16.6% of cases. The presence of sensorimotor stroke, limb weakness and sudden onset in a patient

  7. Clinical features and pathophysiology of Complex Regional Pain Syndrome – current state of the art

    Science.gov (United States)

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

    2017-01-01

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

  8. Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review

    Science.gov (United States)

    Smith, Elisabeth J; Allantaz, Florence; Bennett, Lynda; Zhang, Dongping; Gao, Xiaochong; Wood, Geryl; Kastner, Daniel L; Punaro, Marilynn; Aksentijevich, Ivona; Pascual, Virginia; Wise, Carol A

    2010-01-01

    PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum, and Acne) is an autosomal dominant, hereditary auto-inflammatory disease arising from mutations in the PSTPIP1/CD2BP1 gene on chromosome 15q. These mutations produce a hyper-phosphorylated PSTPIP1 protein and alter its participation in activation of the “inflammasome” involved in interleukin-1 (IL-1β) production. Overproduction of IL-1β is a clear molecular feature of PAPA syndrome. Ongoing research is implicating other biochemical pathways that may be relevant to the distinct pyogenic inflammation of the skin and joints characteristic of this disease. This review summarizes the recent and rapidly accumulating knowledge on these molecular aspects of PAPA syndrome and related disorders. PMID:21532836

  9. Joubert syndrome: Clinical manifestations and magnetic resonance imaging

    International Nuclear Information System (INIS)

    Kim, Seung Cheol; Kim, In One; Yoon, Yong Kyu; Yeon, Kyung Mo; Kim, Woo Sun; Song, Jong Gi; Hwang, Yong Seung

    1994-01-01

    Joubert syndrome presents neonatal respiratory abnormalities and other clinical manifestations. Pathologically the patients show hypoplasia or agenesis of cerebellar vermis and other intracranial anomalies. Our purpose is to evaluate the clinical manifestations and MR findings of Joubert syndrome. Among the patient presenting with clinical stigmata of Joubert syndrome and agenesis of vermis on MR imaging, eight patients who did not satisfied the criteria of Dandy-Walker malformation, tectocerebellar dysraphia and rhombencephalosynapsis were selected. MR findings and clinical manifestation were analyzed. On MR imaging, agenesis of the cerebellar vermis (all cases), hypoplasia of the cerebellar peduncle (6 cases), fourth ventricular contour deformity (6 cases), tentorial elevation (4 caes), deformity of the lateral ventricles (4 cases), dysgenesis of the straight sinus (3 cases) were demonstrated. Other findings were abnormalities of corpus callosum (3 cases), falx anomalies (3 case), occipital encephalomeningocele (2 cases) and fluid collection in posterior cranial fossa (2 cases). Clinical manifestations were developmental delay (5 cases), abnormal eyeball movement (3 cases), hypotonia (2 cases), neonatal respiratory abnormality (2 cases), etc. Joubert syndrome showed various clinical manifestations and intracranial anomalies. MR imaging is an useful modality in detection of the cerebellar vermian agenesis and other anomalies of the patients

  10. Secondary Hemophagocytic Syndrome: The Importance of Clinical Suspicion

    Directory of Open Access Journals (Sweden)

    Cristina Oliveira

    2014-01-01

    Full Text Available Hemophagocytic syndrome is a rare and potentially fatal disorder characterized by pathological immune activation associated with a primary familial disorder, genetic mutations, or occurring as a sporadic condition. The latter can be secondary to infections, malignancies, or autoimmune diseases. Clinically, patients present signs of severe inflammation, with unremitting fever, cytopenias, spleen enlargement, phagocytosis of bone marrow elements, hypertriglyceridemia, and hypofibrinogenemia. Increased suspicion is determinant to timely initiate treatment in an attempt to alter the natural history. The authors present three clinical cases of this syndrome, with a brief review of the diagnostic criteria and treatment.

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

    Science.gov (United States)

    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.

  12. Novel Implications in Molecular Diagnosis of Lynch Syndrome

    Directory of Open Access Journals (Sweden)

    Raffaella Liccardo

    2017-01-01

    Full Text Available About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP and Lynch syndrome (LS. In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients. Very often, the molecular analysis reveals the presence of variants of unknown significance (VUSs whose interpretation is not easy and requires the combination of different analytical strategies to get a proper assessment of their pathogenicity. In some cases, these VUSs may make a more substantial overall contribution to cancer risk than the well-assessed severe Mendelian variants. Moreover, it could also be possible that the simultaneous presence of these genetic variants in several MMR genes that behave as low risk alleles might contribute in a cooperative manner to increase the risk of hereditary cancer. In this paper, through a review of the recent literature, we have speculated a novel inheritance model in the Lynch syndrome; this could pave the way toward new diagnostic perspectives.

  13. Catastrophic antiphospholipid syndrome: a clinical review.

    Science.gov (United States)

    Nayer, Ali; Ortega, Luis M

    2014-01-01

    Catastrophic antiphospholipid syndrome (CAPS) is a rare life-threatening autoimmune disease characterized by disseminated intravascular thrombosis resulting in multiorgan failure. Directory of Open Access Journals (DOAJ), Google Scholar, PubMed (NLM), LISTA (EBSCO) and Web of Science have been searched. CAPS is due to antiphospholipid antibodies directed against a heterogeneous group of proteins that are associated with phospholipids. These autoantibodies activate endothelial cells, platelets, and immune cells, thereby promoting a proinflammatory and prothrombotic phenotype. Furthermore, antiphospholipid antibodies inhibit anticoagulants, impair fibrinolysis, and activate complements. Although CAPS can affect a variety of organs and tissues, the kidneys, lungs, central nervous system, heart, skin, liver, and gastrointestinal tract are most commonly affected. The systemic inflammatory response syndrome, likely to extensive tissue damage, accompanies CAPS. The most frequent renal manifestations are hypertension, proteinuria, hematuria, and acute renal failure.In the majority of patients with CAPS, a precipitating factor such as infection, surgery, or medication can be identified. Antiphospholipid antibodies such as lupus anticoagulant and antibodies against cardiolipin, β2-glycoprotein I, and prothrombin are serological hallmark of CAPS. Laboratory tests often reveal antinuclear antibodies, thrombocytopenia, and anemia. Despite widespread intravascular coagulation, blood films reveal only a small number of schistocytes. In addition, severe thrombocytopenia is uncommon. Histologically, CAPS is characterized by acute thrombotic microangiopathy. CAPS must be distinguished from other forms of thrombotic microangiopathies such as hemolytic-uremic syndrome, thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, and heparin-induced thrombocyt openia. CAPS is associated with high morbidity and mortality. Therefore, an aggressive multidisciplinary

  14. Atypical presentation of HELLP syndrome: clinical case report

    Directory of Open Access Journals (Sweden)

    Juan Manuel Tobar Parra

    2017-12-01

    Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.

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

    Science.gov (United States)

    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.

  16. Pigment dispersion syndrome: a clinical study.

    Science.gov (United States)

    Scheie, H G; Cameron, J D

    1981-01-01

    This study involved a group of 407 patients (799 eyes) with pigment dispersion syndrome gathered from a glaucoma population of 9200 patients. The sex distribution was equal. The majority (65%) of patients were myopic. The incidence of retinal detachment was 6.4%. No patients were black, but 5 were mulatto. Approximately one-quarter of the patients wih pigment dispersion syndrome (31% of the men, 19% of the women) had glaucoma. The average age of onset of glaucoma was 15 years less than in control patients with chronic simple glaucoma. When both eyes were affected by glaucoma, the glaucoma was consistently more severe in the eye with the more heavily pigmented angle. The degree of iris transillumination was found to be of no importance in predicting the presence of glaucoma or the severity of trabecular pigmentation. The pressure in 66% of the eyes with pigmentary glaucoma was controlled medically. A higher percentage of patients with pigmentary glaucoma required surgery than patients in the control group with chronic simple glaucoma. Men with pigmentary glaucoma required surgery at a much earlier age than women with pigmentary glaucoma. PMID:7236571

  17. [Clinical analysis of 6 cases of Bartter syndrome].

    Science.gov (United States)

    Yin, Fang-mei; Zheng, Fang-qiu; Zhang, Xin; Wu, Mei-jun; Wei, Hong-yan; Ma, Zhong-shu; Lu, Biao; Qiu, Ming-cai

    2011-03-01

    To summarize the clinical characteristics of Bartter syndrome and investigate its pathogenesis. The clinical data of 6 cases of Bartter syndrome at our hospital from November 2006 to May 2010 were analyzed retrospectively. The onset age of Bartter syndrome was 13-35 years old. The main symptoms included weakness (6/6), paralysis (1/6), numbness (5/6) and tetany (4/6). All patients had normal blood pressure. The biochemical tests showed persistent hypokalemia, metabolic alkalosis (6/6) and hyperreninemia. The pathological examination of deltoid muscle biopsy showed the swelling, degeneration and necrosis of myocytes and the deposition of immunocomplex in myolemma. And the pathological examination of renal biopsy showed the hyperplasia of juxtaglomerular apparatus (5/6) and the deposition of immunocomplex. All symptoms were relieved after a therapy of potassium supplementation or a combination of indomethacin, spironolactone and immunosuppressant. When such clinical features as weakness, paralysis, tetany, hypokalemic alkalosis and normotension are encountered, Bartter syndrome should be suspected. Serum electrolytes, blood gas analysis and activation of the renin-angiotensin-aldosterone system should be examined for a definite diagnosis. The treatment of choice includes potassium and magnesium supplementation or in combination with prostaglandin synthetase inhibitor, aldosterone antagonist and immunosuppressant. Immunologic mechanism may participate in the course of Bartter syndrome.

  18. A new course in the clinical pathways for metabolic syndrome

    International Nuclear Information System (INIS)

    Kageyama, Shoko; Wada, Yumi; Nakamura, Rie

    2006-01-01

    Metabolic syndrome is consisted with multiple risk factors such as diabetes, dyslipidemia, and hypertension based on visceral fat accumulation, for the development of arteriosclerosis. We present, here, a clinical pathway for education of patients with metabolic syndrome. The program contains an adequate explanation of the high risk for arteriosclerosis to the patients, the measurement of visceral fat content by computed tomography, and several clinical examinations for the evaluation of arteriosclerotic lesions. We have presented this program on the ward of diabetes center in our hospital for patients diagnosed as having metabolic syndrome. Because the focus of education is to clarify understanding of the harmful effects of visceral fat and the benefits of its reduction, it might be a valuable tool to motivate and empower the patient and improve the patient's lifestyle. (author)

  19. A new course in the clinical pathways for metabolic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kageyama, Shoko; Wada, Yumi; Nakamura, Rie [Sumitomo Hospital, Osaka, Osaka (Japan)

    2006-07-15

    Metabolic syndrome is consisted with multiple risk factors such as diabetes, dyslipidemia, and hypertension based on visceral fat accumulation, for the development of arteriosclerosis. We present, here, a clinical pathway for education of patients with metabolic syndrome. The program contains an adequate explanation of the high risk for arteriosclerosis to the patients, the measurement of visceral fat content by computed tomography, and several clinical examinations for the evaluation of arteriosclerotic lesions. We have presented this program on the ward of diabetes center in our hospital for patients diagnosed as having metabolic syndrome. Because the focus of education is to clarify understanding of the harmful effects of visceral fat and the benefits of its reduction, it might be a valuable tool to motivate and empower the patient and improve the patient's lifestyle. (author)

  20. Clinical aspects and prognosis of Brugada syndrome in children

    NARCIS (Netherlands)

    Probst, Vincent; Denjoy, Isabelle; Meregalli, Paola G.; Amirault, Jean-Christophe; Sacher, Frederic; Mansourati, Jacques; Babuty, Dominique; Villain, Elisabeth; Victor, Jacques; Schott, Jean-Jacques; Lupoglazoff, Jean-Marc; Mabo, Philippe; Veltmann, Christian; Jesel, Laurence; Chevalier, Philippe; Clur, Sally-Ann B.; Haissaguerre, Michel; Wolpert, Christian; Le Marec, Herve; Wilde, Arthur A. M.

    2007-01-01

    BACKGROUND: Brugada syndrome is an arrhythmogenic disease characterized by an ECG pattern of ST-segment elevation in the right precordial leads and augmented risk of sudden cardiac death. Little is known about the clinical presentation and prognosis of this disease in children. METHODS AND RESULTS:

  1. Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

    DEFF Research Database (Denmark)

    Boonen, Susanne E; Pörksen, Sven; Mackay, Deborah Jg

    2008-01-01

    We present the first clinical report of sibs with the multiple maternal hypomethylation syndrome. Both sisters presented with transient neonatal diabetes mellitus (TNDM). By methylation-specific PCR of bisulphite-treated DNA, we found a mosaic spectrum of hypomethylation at the following maternal...

  2. Clinical features and respiratory complications in Myhre syndrome

    NARCIS (Netherlands)

    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

  3. Prader-Willi syndrome in South African patients clinical and ...

    African Journals Online (AJOL)

    Prader-Willi syndrome in. South African patients clinical and molecular diagnosis. A L Christianson, 0 L Viljoen, W S Winship,. M de la Rey, E J van Rensburg. Study objective. ... This probe detects a parent-of-origin-specific methylation imprint at locus ... These studies were undertaken in the Molecular Genetic. Laboratory of ...

  4. Metabolic Syndrome in Patients attending the Staff Clinic of a ...

    African Journals Online (AJOL)

    Background/objective: Metabolic syndrome (MetS) is characterised by a clustering of cardiometabolic risk factors. It contributes to morbidity and mortality in adults. The objective of the study was to identify new cases and associated factors of MetS in patients attending a tertiary hospital staff clinic. Materials and methods: The ...

  5. Clinical and molecular phenotype of Aicardi-Goutieres syndrome

    NARCIS (Netherlands)

    Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F.; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A.; Barroso, Bruno; Baxter, Peter; Benko, Willam S.; Bergmann, Carsten; Bertini, Enrico; Biancheri, Roberta; Blair, Edward M.; Blau, Nenad; Bonthron, David T.; Briggs, Tracy; Brueton, Louise A.; Brunner, Han G.; Burke, Christopher J.; Carr, Ian M.; Carvalho, Daniel R.; Chandler, Kate E.; Christen, Hans-Jurgen; Corry, Peter C.; Cowan, Frances M.; Cox, Helen; D'Arrigo, Stefano; Dean, John; de Laet, Corinne; de Praeter, Claudine; Dery, Catherine; Ferrie, Colin D.; Flintoff, Kim; Frints, Suzanna G. M.; Garcia-Cazorla, Angels; Gener, Blanca; Goizet, Cyril; Goutieres, Francoise; Green, Andrew J.; Guet, Agnes; Hamel, Ben C. J.; Hayward, Bruce E.; Heiberg, Arvid; Hennekam, Raoul C.; Husson, Marie; Jackson, Andrew P.; Jayatunga, Rasieka; Jiang, Yong-Hui; Kant, Sarina G.; Kao, Amy; King, Mary D.; Kingston, Helen M.; Klepper, Joerg; van der Knaap, Marjo S.; Kornberg, Andrew J.; Kotzot, Dieter; Kratzer, Wilfried; Lacombe, Didier; Lagae, Lieven; Landrieu, Pierre Georges; Lanzi, Giovanni; Leitch, Andrea; Lim, Ming J.; Livingston, John H.; Lourenco, Charles M.; Lyall, E. G. Hermione; Lynch, Sally A.; Lyons, Michael J.; Marom, Daphna; McClure, John P.; McWilliam, Robert; Melancon, Serge B.; Mewasingh, Leena D.; Moutard, Marie-Laure; Nischal, Ken K.; Ostergaard, John R.; Prendiville, Julie; Rasmussen, Magnhild; Rogers, R. Curtis; Roland, Dominique; Rosser, Elisabeth M.; Rostasy, Kevin; Roubertie, Agathe; Sanchis, Amparo; Schiffmann, Raphael; Scholl-Burgi, Sabine; Seal, Sunita; Shalev, Stavit A.; Corcoles, C. Sierra; Sinha, Gyan P.; Soler, Doriette; Spiegel, Ronen; Stephenson, John B. P.; Tacke, Uta; Tan, Tiong Yang; Till, Marianne; Tolmie, John L.; Tomlin, Pam; Vagnarelli, Federica; Valente, Enza Maria; van Coster, Rudy N. A.; van der Aa, Nathalie; Vanderver, Adeline; Vles, Johannes S. H.; Voit, Thomas; Wassmer, Evangeline; Weschke, Bernhard; Whiteford, Margo L.; Willemsen, Michel A. A.; Zankl, Andreas; Zuberi, Sameer M.; Orcesi, Simona; Fazzi, Elisa; Lebon, Pierre; Crow, Yanick J.

    2007-01-01

    Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease

  6. Expanded clinical spectrum of enhanced S-cone syndrome

    NARCIS (Netherlands)

    Yzer, Suzanne; Barbazetto, Irene; Allikmets, Rando; van Schooneveld, Mary J.; Bergen, Arthur; Tsang, Stephen H.; Jacobson, Samuel G.; Yannuzzi, Lawrence A.

    2013-01-01

    New funduscopic findings in patients with enhanced S-cone syndrome (ESCS) may help clinicians in diagnosing this rare autosomal recessive retinal dystrophy. To expand the clinical spectrum of ESCS due to mutations in the NR2E3 gene. Retrospective, noncomparative case series of 31 patients examined

  7. Silent angels the genetic and clinical aspects of Rett syndrome

    Directory of Open Access Journals (Sweden)

    Dziwota Ewelina

    2016-12-01

    Full Text Available Rett syndrome is a neurodevelopmental genetic disorder and, because of some behavioral characteristics, individuals affected by the disease are known as silent angels. Girls with Rett syndrome perform stereotyped movements, they have learning difficulties, their reaction time is prolonged, and they seem alienated in the environment. These children require constant pediatric, neurological and orthopedic care. In the treatment of Rett syndrome physical therapy, music therapy, hydrotherapy, hippotherapy, behavioral methods, speech therapy and diet, are also used. In turn, psychological therapy of the syndrome is based on the sensory integration method, using two or more senses simultaneously. In 80% of cases, the syndrome is related to mutations of the MECP2 gene, located on chromosome X. The pathogenesis of Rett syndrome is caused by the occurrence of a non-functional MeCP2 protein, which is a transcription factor of many genes, i.e. Bdnf, mef2c, Sgk1, Uqcrc1. Abnormal expression of these genes reveals a characteristic disease phenotype. Clinical symptoms relate mainly to the nervous, respiratory, skeletal and gastrointestinal systems. Currently causal treatment is not possible. However, researchers are developing methods by which, perhaps in the near future, it will be possible to eliminate the mutations in the MECP2 gene, and this will give a chance to the patient for normal functioning.

  8. Late whiplash syndrome: a clinical and magnetic resonance imaging study.

    Science.gov (United States)

    Bonuccelli, U; Pavese, N; Lucetti, C; Renna, M R; Gambaccini, G; Bernardini, S; Canapicchi, R; Carrozzi, L; Murri, L

    1999-01-01

    Cervical hyperextension injuries are common and are associated with significant morbidity. Clinically two syndromes are described: "acute" whiplash syndrome and "late" whiplash syndrome (in which the patients are still symptomatic after six months despite normal physical and radiological examination). In order to clarify the pathology of the persistent pain in late whiplash syndrome we performed a cervical spine magnetic resonance imaging (MRI) in 33 consecutive patients suffering from this condition. Twenty-six patients (78.8%) showed MRI abnormalities, the most common MRI finding (57.6%) was pre-existent spondylosis. Indeed, the group of patients with spondylosis and other MRI changes had higher clinical scores than those without MRI abnormalities as measured by a three-point grading system based upon the symptoms and signs shown. Several MRI changes, most of them already demonstrable by standard X-ray were seen among 33 patients suffering from late whiplash syndrome. Although no one of these findings appears to be specific and certainly related to the previous neck injury, they could represent a risk factor for a longer pain duration.

  9. Pathophysiology and Japanese clinical characteristics in Marfan syndrome.

    Science.gov (United States)

    Fujita, Daishi; Takeda, Norifumi; Imai, Yasushi; Inuzuka, Ryo; Komuro, Issei; Hirata, Yasunobu

    2014-08-01

    Marfan syndrome is an autosomal dominant heritable disorder of the connective tissue, caused by mutations of the gene FBN1, which encodes fibrillin-1, a major component of the microfibrils of the extracellular matrix. Fibrillin-1 interacts with transforming growth factor-β (TGF-β), and dysregulated TGF-β signaling plays a major role in the development of connective tissue disease and familial aortic aneurysm and dissection, including Marfan syndrome. Losartan, an angiotensin II blocker, has the potential to reduce TGF-β signaling and is expected to be an additional therapeutic option. Clinical diagnosis is made using the Ghent nosology, which requires comprehensive patient assessment and has been proven to work well, but evaluation of some of the diagnostic criteria by a single physician is difficult and time-consuming. A Marfan clinic was established at the University of Tokyo Hospital in 2005, together with cardiologists, cardiac surgeons, pediatricians, orthopedists, and ophthalmologists in one place, for the purpose of speedy and accurate evaluation and diagnosis of Marfan syndrome. In this review, we discuss the recent progress in diagnosis and treatment of Marfan syndrome, and the characteristics of Japanese patients with Marfan syndrome. © 2014 Japan Pediatric Society.

  10. Clinical implications of The Red Book.

    Science.gov (United States)

    Culliford, Penny

    2012-09-01

    This presentation stresses the uniqueness of both the therapist's and patient's personal experience in clinical work and relates this to the significance of The Red Book as Jung's personal odyssey and for me personally as an analyst. I consider The Red Book's enduring relevance alongside recent psychological theories, neuroscience and early mystical writings, and conclude with a clinical vignette of a patient's response to a piece of choral music and subsequent use of active imagination. © 2012, The Society of Analytical Psychology.

  11. HOXA genes cluster: clinical implications of the smallest deletion

    OpenAIRE

    Pezzani, Lidia; Milani, Donatella; Manzoni, Francesca; Baccarin, Marco; Silipigni, Rosamaria; Guerneri, Silvana; Esposito, Susanna

    2015-01-01

    Background HOXA genes cluster plays a fundamental role in embryologic development. Deletion of the entire cluster is known to cause a clinically recognizable syndrome with mild developmental delay, characteristic facies, small feet with unusually short and big halluces, abnormal thumbs, and urogenital malformations. The clinical manifestations may vary with different ranges of deletions of HOXA cluster and flanking regions. Case presentation We report a girl with the smallest deletion reporte...

  12. Automated syndrome detection in a set of clinical facial photographs.

    Science.gov (United States)

    Boehringer, Stefan; Guenther, Manuel; Sinigerova, Stella; Wurtz, Rolf P; Horsthemke, Bernhard; Wieczorek, Dagmar

    2011-09-01

    Computer systems play an important role in clinical genetics and are a routine part of finding clinical diagnoses but make it difficult to fully exploit information derived from facial appearance. So far, automated syndrome diagnosis based on digital, facial photographs has been demonstrated under study conditions but has not been applied in clinical practice. We have therefore investigated how well statistical classifiers trained on study data comprising 202 individuals affected by one of 14 syndromes could classify a set of 91 patients for whom pictures were taken under regular, less controlled conditions in clinical practice. We found a classification accuracy of 21% percent in the clinical sample representing a ratio of 3.0 over a random choice. This contrasts with a 60% accuracy or 8.5 ratio in the training data. Producing average images in both groups from sets of pictures for each syndrome demonstrates that the groups exhibit large phenotypic differences explaining discrepancies in accuracy. A broadening of the data set is suggested in order to improve accuracy in clinical practice. In order to further this goal, a software package is made available that allows application of the procedures and contributions toward an improved data set. Copyright © 2011 Wiley-Liss, Inc.

  13. The Architecture of the Pollen Hoarding Syndrome in Honey Bees: Implications for Understanding Social Evolution, Behavioral Syndromes, and Selective Breeding.

    Science.gov (United States)

    Rueppell, Olav

    2014-05-01

    Social evolution has influenced every aspect of contemporary honey bee biology, but the details are difficult to reconstruct. The reproductive ground plan hypothesis of social evolution proposes that central regulators of the gonotropic cycle of solitary insects have been coopted to coordinate social complexity in honey bees, such as the division of labor among workers. The predicted trait associations between reproductive physiology and social behavior have been identified in the context of the pollen hoarding syndrome, a larger suite of interrelated traits. The genetic architecture of this syndrome is characterized by a partially overlapping genetic architecture with several consistent, pleiotropic QTL. Despite these central QTL and an integrated hormonal regulation, separate aspects of the pollen hoarding syndrome may evolve independently due to peripheral QTL and additionally segregating genetic variance. The characterization of the pollen hoarding syndrome has also demonstrated that this syndrome involves many non-behavioral traits, which may be the case for numerous "behavioral" syndromes. Furthermore, the genetic architecture of the pollen hoarding syndrome has implications for breeding programs for improving honey health and other desirable traits: If these traits are comparable to the pollen hoarding syndrome, consistent pleiotropic QTL will enable marker assisted selection, while sufficient additional genetic variation may permit the dissociation of trade-offs for efficient multiple trait selection.

  14. ESWT for tendinopathy: technology and clinical implications.

    Science.gov (United States)

    van der Worp, Henk; van den Akker-Scheek, Inge; van Schie, Hans; Zwerver, Johannes

    2013-06-01

    The general consensus that tendinopathy, at least in the chronic stage, is mainly a degenerative condition and inflammation plays a minor role has led to a shift from treatments that target inflammation towards treatment options that promote regeneration. One of these treatments is extracorporeal shockwave therapy (ESWT), a physical therapy modality that uses pressure waves to treat tendinopathy. This review was undertaken to give an overview of the literature concerning this treatment, and special attention is given to the differences between focused and radial ESWT. A narrative description of wave characteristics, generation methods and in vitro effects of ESWT is given. The literature on ESWT as a treatment for one common tendinopathy, patellar tendinopathy, was systematically reviewed. Waves that are generated for focused and radial ESWT have very different physical characteristics. It is unclear how these characteristics are related to clinical effectiveness. Studies into the biological effects of ESWT have mainly used focused shockwave therapy, showing a number of effects of shockwaves on biological tissue. The systematic review of studies into the clinical effects of ESWT for patellar tendinopathy showed conflicting evidence for its effectiveness. Physical characteristics of focused and radial waves differ substantially, but effect on clinical effectiveness is unclear. Whereas in vitro studies often show the effects of ESWT on tendon tissue, results of clinical studies are inconsistent. Based on the review of the literature, suggestions are given for the use of ESWT in clinical practice regarding timing and treatment parameters.

  15. Clinical, radiological and imunogenectical study in patients with Reiter's Syndrome

    International Nuclear Information System (INIS)

    Souza Meirelles, E. de.

    1987-01-01

    This study puspose was to investigate the clinical, radiological and immunogenetical parameters from a brazilian Reiter's Syndrome population. Twenty Reiter's Syndrome patients from ''Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo'' were prospectivelly studied in their demographical (sex, race, age at study, age at disease onset and disease duration), epidemiological (family history), clinical (general, articular, mucocutaneous, genitourinary, ocular and intestinal manifestations besides functional capacity at study), radiological (sacro-iliitis, spondylitis and calcaneal spur) and immunogenetical (HLA loci A, B and DR typing). The technique employed in the 61 aloantigens from loci HLA A (17), B (34) and DR (10) typing was Terasaki microlymphocitotoxicity modified by Danilovs, had being performed in the ''Laboratorio de Imunogenetica da Faculdade de Medicina da Universidade de Sao Paulo''. We concluded that the clinical, radiological and immunogenetical Reiter's Syndrome expression in the brazilian population is similar to the others north american or european already studied populations and that the probability of one brazilian HLA B27 positie individual to develop Reiter's Syndrome is 19 fold larger when compared to one brazilian HLA B27 negative individual. (author) [pt

  16. Clinical characteristics of polycystic ovary syndrome: investigating differences in White and South Asian women.

    Science.gov (United States)

    Mani, Hamidreza; Davies, Melanie J; Bodicoat, Danielle H; Levy, Miles J; Gray, Laura J; Howlett, Trevor A; Khunti, Kamlesh

    2015-10-01

    To understand the phenotypic presentation of women with polycystic ovary syndrome (PCOS) of different ethnicities and at different ages. Cross-sectional, retrospective data analysis (1988 - 2009). Specialist clinic in a University Hospital, Leicestershire, UK. Women with PCOS, n = 1310 (mean age 26·2 years), 70·9% White and 29·1% South Asian (SA) attending a speciality clinic in Leicester UK. Clinical and demographic characteristics of women with PCOS including age at first clinic appointment, signs and symptoms, body mass index (BMI) and blood pressure (BP). Compared to White women, the SA were younger (24·3 vs 27·1 years, P women with PCOS appear to be significantly different depending on ethnicity, obesity and age. This has implications for management strategies in these groups. © 2015 John Wiley & Sons Ltd.

  17. Clinical Features of Ehlers-Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    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.

  18. HIV-associated Lipodystrophy Syndrome: A Review of Clinical Aspects

    Directory of Open Access Journals (Sweden)

    Jean-Guy Baril

    2005-01-01

    Full Text Available Approximately two years after the introduction of highly active antiretroviral therapy for the treatment of HIV infection, body shape changes and metabolic abnormalities were increasingly observed. Initially, these were ascribed to protease inhibitors, but it is now clear that nucleoside reverse transcriptase inhibitors also contribute to lipodystrophy syndrome. The syndrome groups together clinical conditions describing changes in body fat distribution that include lipoatrophy, lipoaccumulation or both. However, there does not appear to be a direct link between lipoatrophy and lipoaccumulation that would support a single mechanism for the redistribution of body fat. Currently, there is no clear definition of lipodystrophy, which explains the difficulty in determining its prevalence and etiology. There are no current guidelines for the treatment of fat distribution abnormalities that occur in the absence of other metabolic complications. The present article reviews the current state of knowledge of the definition, symptoms, risk factors, pathogenesis, diagnosis and treatment of the morphological changes associated with lipodystrophy syndrome.

  19. HIV-associated lipodystrophy syndrome: A review of clinical aspects

    Science.gov (United States)

    Baril, Jean-Guy; Junod, Patrice; LeBlanc, Roger; Dion, Harold; Therrien, Rachel; Laplante, François; Falutz, Julian; Côté, Pierre; Hébert, Marie-Nicole; Lalonde, Richard; Lapointe, Normand; Lévesque, Dominic; Pinault, Lyse; Rouleau, Danielle; Tremblay, Cécile; Trottier, Benoît; Trottier, Sylvie; Tsoukas, Chris; Weiss, Karl

    2005-01-01

    Approximately two years after the introduction of highly active antiretroviral therapy for the treatment of HIV infection, body shape changes and metabolic abnormalities were increasingly observed. Initially, these were ascribed to protease inhibitors, but it is now clear that nucleoside reverse transcriptase inhibitors also contribute to lipodystrophy syndrome. The syndrome groups together clinical conditions describing changes in body fat distribution that include lipoatrophy, lipoaccumulation or both. However, there does not appear to be a direct link between lipoatrophy and lipoaccumulation that would support a single mechanism for the redistribution of body fat. Currently, there is no clear definition of lipodystrophy, which explains the difficulty in determining its prevalence and etiology. There are no current guidelines for the treatment of fat distribution abnormalities that occur in the absence of other metabolic complications. The present article reviews the current state of knowledge of the definition, symptoms, risk factors, pathogenesis, diagnosis and treatment of the morphological changes associated with lipodystrophy syndrome. PMID:18159551

  20. Clinical and nutritional implications of radiation enteritis

    International Nuclear Information System (INIS)

    Beer, W.H.; Fan, A.; Halsted, C.H.

    1985-01-01

    The clinical and nutritional significance of radiation enteritis was assessed in eight patients with chronic diarrhea which followed curative doses of radiotherapy for pelvic malignancies. Steatorrhea, found in seven malnourished patients, was ascribed to ileal disease or previous surgery, or to bacterial contamination of the small intestine. Lactose intolerance, assessed by breath hydrogen excretion after oral lactose and by jejunal lactase levels, was found in six patients. In a subgroup of five patients, the administration of two different defined formula liquid diets by nasoduodenal infusion decreased fecal fluid and energy losses by about one-half. Compared to Vivonex-HN, the infusion of Criticare-HN was associated with greater likelihood of intestinal gas production but a three-fold greater utilization of protein. Intestinal malabsorption and malnutrition in radiation enteritis has diverse etiologies. Whereas nutritional support by liquid diet limits fecal fluid and energy losses, these diets differ significantly in clinical tolerance and biologic value

  1. Clinical and nutritional implications of radiation enteritis

    Energy Technology Data Exchange (ETDEWEB)

    Beer, W.H.; Fan, A.; Halsted, C.H.

    1985-01-01

    The clinical and nutritional significance of radiation enteritis was assessed in eight patients with chronic diarrhea which followed curative doses of radiotherapy for pelvic malignancies. Steatorrhea, found in seven malnourished patients, was ascribed to ileal disease or previous surgery, or to bacterial contamination of the small intestine. Lactose intolerance, assessed by breath hydrogen excretion after oral lactose and by jejunal lactase levels, was found in six patients. In a subgroup of five patients, the administration of two different defined formula liquid diets by nasoduodenal infusion decreased fecal fluid and energy losses by about one-half. Compared to Vivonex-HN, the infusion of Criticare-HN was associated with greater likelihood of intestinal gas production but a three-fold greater utilization of protein. Intestinal malabsorption and malnutrition in radiation enteritis has diverse etiologies. Whereas nutritional support by liquid diet limits fecal fluid and energy losses, these diets differ significantly in clinical tolerance and biologic value.

  2. Biological behaviour and clinical implications of micrometastases.

    LENUS (Irish Health Repository)

    Kell, M R

    2012-02-03

    BACKGROUND: The most important prognostic determinant in cancer is the identification of disseminated tumour burden (metastases). Micrometastases are microscopic (smaller than 2 mm) deposits of malignant cells that are segregated spatially from the primary tumour and depend on neovascular formation (angiogenesis) to propagate. METHODS: The electronic literature (1966 to present) on micrometastases and their implications in malignant melanoma and epithelial cancers was reviewed. RESULTS: Immunohistochemical techniques combined with serial sectioning offer the best accuracy for detection of nodal micrometastases. Molecular techniques should be reserved for blood samples or bone marrow aspirates. Detection of micrometastases in regional lymph nodes and\\/or bone marrow confers a poor prognosis in epithelial cancers. The concept of sentinel node biopsy combined with serial sectioning and dedicated screening for micrometastases may improve staging procedures. Strategies against angiogenesis may provide novel therapies to induce and maintain micrometastatic dormancy. CONCLUSION: The concept of micrometastases has resulted in a paradigm shift in the staging of epithelial tumours and our overall understanding of malignant processes.

  3. 'Refeeding syndrome' in a Kuwaiti child: clinical diagnosis and management.

    Science.gov (United States)

    Al Sharkawy, Ibrahim; Ramadan, Dina; El-Tantawy, Amira

    2010-01-01

    To report a case of refeeding syndrome in a Kuwaiti child, its clinical presentation and management. A 13-month-old Kuwaiti boy presented with acute severe malnutrition in the form of marasmic kwashiorkor. On admission, blood sugar and serum electrolytes were normal but on the 3rd day he developed typical biochemical features of refeeding syndrome in the form of hyperglycemia, severe hypophosphatemia, hypokalemia, hypocalcemia and hypomagnesemia. The child then received treatment appropriate for refeeding syndrome in the form of lower calorie intake with gradual increase, as well as supplementation of electrolytes, thiamine and vitamins and he eventually made a safe recovery. This case showed that during rehabilitation of a malnourished child, a severe potentially lethal electrolyte disturbance (refeeding syndrome) can occur. Careful monitoring of electrolytes before and during the refeeding phase was needed and helped to detect this syndrome early. We suggest that slow and gradual calorie increase in the 'at-risk' patient can help prevent its occurrence. Copyright (c) 2010 S. Karger AG, Basel.

  4. Placental transfer of antidepressant medications: implications for postnatal adaptation syndrome.

    Science.gov (United States)

    Ewing, Grace; Tatarchuk, Yekaterina; Appleby, Dina; Schwartz, Nadav; Kim, Deborah

    2015-04-01

    Seven to thirteen percent of women are either prescribed or taking (depending on the study) an antidepressant during pregnancy. Because antidepressants freely cross into the intrauterine environment, we aim to summarize the current findings on placental transfer of antidepressants. Although generally low risk, antidepressants have been associated with postnatal adaptation syndrome (PNAS). Specifically, we explore whether the antidepressants most closely associated with PNAS (paroxetine, fluoxetine, venlafaxine) cross the placenta to a greater extent than other antidepressants. We review research on antidepressants in the context of placental anatomy, placental transport mechanisms, placental metabolism, pharmacokinetics, as well as non-placental maternal and fetal factors. This provides insight into the complexity involved in understanding how placental transfer of antidepressants may relate to adverse perinatal outcomes. Ultimately, from this data there is no pattern in which PNAS is related to placental transfer of antidepressant medications. In general, there is large interindividual variability for each type of antidepressant. To make the most clinically informed decisions about the use of antidepressants in pregnancy, studies that link maternal, placental and fetal genetic polymorphisms, placental transfer rates and infant outcomes are needed.

  5. Clinical profile of patients with fibromyalgia syndrome

    Directory of Open Access Journals (Sweden)

    Andrei Pereira Pernambuco

    Full Text Available Abstract Introduction: The new diagnostic criteria for fibromyalgia (FM include the presence of chronic, widespread pain associated with other symptoms such as fatigue, sleep disturbance, anxiety and depression. All these symptoms should be considered when thinking and clinical decision making of physiotherapists dealing with FM. However, it is clear that the other symptoms that accompany the pain are often neglected. Objective: To measure the levels of fatigue, sleep disturbances, anxiety and depression in patients with FM and compare them to levels found in healthy controls. Methods: Forty-six women diagnosed with FM and 30 healthy controls participated in the study. The levels of each of the symptoms were assessed by four validated questionnaires in Brazil (Piper Fatigue Scale - Revised, Pittsburgh Sleep Quality Index, Beck Anxiety Inventory and the Beck Depression Inventory. Statistical analysis was performed using GraphPad Prism software and all tests used a significance level of 5% (α = 0.05. Results: FM patients had significantly elevated levels of fatigue (p = 0.0005, sleep disturbances (p = 0.003, anxiety (p = 0.0012 and depression (p = 0.0003 compared to healthy controls. Symptoms fatigue and depression correlated strongly and positively with one another and with other symptoms evaluated. Conclusion: The other symptoms that comprise the clinical picture of FM need be considered not only in order to recover the health of patients, but above all in an attempt to preserve it and promote it.

  6. Epidemiological and clinical characteristics of Reiter's syndrome in Jordanian patients

    International Nuclear Information System (INIS)

    Al-Mrayat, Z.; Abdallat, S.; Marabha, T.

    2004-01-01

    Objective: To study the epidemiological and clinical features of Reiter's syndrome in patients who visited the rheumatology clinic in King Hussein Medical Centre (KHMC), Jordan. Methods: A prospective study, including 43 patients with the diagnosis of Reiter's syndrome was done. Patients were assessed by taking complete history, physical examination and appropriate investigations including urinalysis and culture, stool examination and culture, synovial fluid analysis, complement fixation test for Chlamydia trachomatis, complete blood count, erythrocyte sedimentation rate, rheumatoid factor, antinuclear antibodies. HLA-B27 and radiological study. Results: All patients in this study were white men, with mean age of 26.3 years. HLA-B27 was positive in 37 patients (86%). Most cases were post venereal (32 patients, 74%) while the rest were dysenteric. The clinical manifestations were arthritis in all patients (100%), urethritis in 21 patients (48%), ocular involvement in 20 patients (46%), diarrhea in 12 patients (28%), painless oral ulcers in 11 patients (26%), skin lesions in 5 patients (12%) and constitutional symptoms in 7 patients (16%). Arthritis was mostly oligoarticular (25 patients, 58%) with asymmetrical pattern in 34 patients (78%). Large joints of lower extremity were most involved (29 patients, 68%). Rheumatoid factor and antinuclear antibodies were negative in all patients. Relapses occurred in 7 patients (16%) after a mean period of 6.2 months. Conclusion: It is concluded that the epidemiological and clinical features of Reiter's syndrome in Jordan are not different from those in the literature. (author)

  7. Expanding the mutation and clinical spectrum of Roberts syndrome.

    Science.gov (United States)

    Afifi, Hanan H; Abdel-Salam, Ghada M H; Eid, Maha M; Tosson, Angie M S; Shousha, Wafaa Gh; Abdel Azeem, Amira A; Farag, Mona K; Mehrez, Mennat I; Gaber, Khaled R

    2016-07-01

    Roberts syndrome and SC phocomelia syndrome are rare autosomal recessive genetic disorders representing the extremes of the spectrum of severity of the same condition, caused by mutations in ESCO2 gene. We report three new patients with Roberts syndrome from three unrelated consanguineous Egyptian families. All patients presented with growth retardation, mesomelic shortening of the limbs more in the upper than in the lower limbs and microcephaly. Patients were subjected to clinical, cytogenetic and radiologic examinations. Cytogenetic analysis showed the characteristic premature separation of centromeres and puffing of heterochromatic regions. Further, sequencing of the ESCO2 gene identified a novel mutation c.244_245dupCT (p.T83Pfs*20) in one family besides two previously reported mutations c.760_761insA (p.T254Nfs*27) and c.764_765delTT (p.F255Cfs*25). All mutations were in homozygous state, in exon 3. The severity of the mesomelic shortening of the limbs and craniofacial anomalies showed variability among patients. Interestingly, patient 1 had abnormal skin hypopigmentation. Serial fetal ultrasound examinations and measurements of long bones diagnosed two affected fetuses in two of the studied families. A literature review and case comparison was performed. In conclusion, we report a novel ESCO2 mutation and expand the clinical spectrum of Roberts syndrome. © 2015 Japanese Teratology Society.

  8. Viral asthma: implications for clinical practice

    Directory of Open Access Journals (Sweden)

    Roger Menendez

    2010-07-01

    Full Text Available Roger Menendez1, Michael D Goldman21Allergy and Asthma Center of El Paso, El Paso, TX, USA; 2Pulmonary Division, UCLA Gaffen School of Medicine, Los Angeles, CA, USAAbstract: The natural history of asthma appears to be driven primarily by the timing and duration of viral respiratory infections. From the very high rate of infections in childhood, to the more sporadic pattern seen in adults, the cycle of acute injury followed by an inefficient repair process helps explain the clinical patterns of asthma severity currently recognized by asthma guidelines. Why the asthmatic host responds to viral injury in a particular way is largely a mystery and the subject of intense investigation. The role of viruses in asthma extends not just to intermittent but to persistent disease, and to both the atopic as well as nonatopic phenotypes. Future therapeutic strategies should include primary prevention via the development of antiviral innate immunity-enhancing vaccines, as well as secondary prevention via the use of antiviral agents, or immunomodulators designed to boost the antiviral response or interrupt the proinflammatory cascade.Keywords: asthma, rhinoviruses, exacerbations, epidemiology, phenotypes, clinical trials

  9. Clinical implications from monitoring fetal activity.

    Science.gov (United States)

    Rayburn, W F

    1982-12-15

    The monitoring of fetal motion in high-risk pregnancies has been shown to be worthwhile in predicting fetal distress and impending fetal death. The maternal recording of perceived fetal activity is an inexpensive surveillance technique which is most useful when there is chronic uteroplacental insufficiency or when a stillbirth may be expected. The presence of an active, vigorous fetus is reassuring, but documented fetal inactivity required a reassessment of the underlying antepartum complication and further fetal evaluation with real-time ultrasonography, fetal heart rate testing, and biochemical testing. Fetal distress from such acute changes as abruptio placentae or umbilical cord compression may not be predicted by monitoring fetal motion. Although not used for routine clinical investigation, electromechanical devices such as tocodynamometry have provided much insight into fetal behavioral patterns at many stages of pregnancy and in pregnancies with an antepartum complication.

  10. Medical Malpractice Implications of Clinical Practice Guidelines.

    Science.gov (United States)

    Ruhl, Douglas S; Siegal, Gil

    2017-08-01

    Clinical practice guidelines aim to improve medical care by clarifying and making useful recommendations to providers. Although providers should account for patients' unique characteristics when determining a treatment plan, it is generally perceived as good practice to follow guidelines when applicable. This is of interest in malpractice litigation, where it is essential to establish a standard of care to evaluate the performances of providers. Although the opinions of expert witnesses are used to determine standards of care, guidelines are expected to play a leading role. Guidelines alone should not establish a legal standard but may help inform this discussion in the courtroom. Therefore, it is incumbent that excellent, practical, and timely guidelines are continually created and updated in a transparent way. These guidelines must be very clear and underscore the various strengths of recommendation based on the quality of available evidence.

  11. Episodic Memories in Anxiety Disorders: Clinical Implications

    Science.gov (United States)

    Zlomuzica, Armin; Dere, Dorothea; Machulska, Alla; Adolph, Dirk; Dere, Ekrem; Margraf, Jürgen

    2014-01-01

    The aim of this review is to summarize research on the emerging role of episodic memories in the context of anxiety disorders (AD). The available literature on explicit, autobiographical, and episodic memory function in AD including neuroimaging studies is critically discussed. We describe the methodological diversity of episodic memory research in AD and discuss the need for novel tests to measure episodic memory in a clinical setting. We argue that alterations in episodic memory functions might contribute to the etiology of AD. We further explain why future research on the interplay between episodic memory function and emotional disorders as well as its neuroanatomical foundations offers the promise to increase the effectiveness of modern psychological treatments. We conclude that one major task is to develop methods and training programs that might help patients suffering from AD to better understand, interpret, and possibly actively use their episodic memories in a way that would support therapeutic interventions and counteract the occurrence of symptoms. PMID:24795583

  12. Episodic memories in anxiety disorders: Clinical implications

    Directory of Open Access Journals (Sweden)

    Armin eZlomuzica

    2014-04-01

    Full Text Available The aim of this review is to summarize research on the emerging role of episodic memories in the context of anxiety disorders (AD. The available literature on explicit-, autobiographical- and episodic memory function in AD including neuroimaging studies is critically discussed. We describe the methodological diversity of episodic memory research in AD and discuss the need for novel tests to measure episodic memory in a clinical setting. We argue that alterations in episodic memory functions might contribute to the etiology of AD. We further explain why future research on the interplay between episodic memory function and emotional disorders as well as its neuroanatomical foundations offers the promise to increase the effectiveness of modern psychological treatments. We conclude that one major task is to develop methods and training programs that might help patients suffering from AD to better understand, interpret and possibly actively use their episodic memories in a way that would support therapeutic interventions and counteract the occurrence of symptoms.

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

    Science.gov (United States)

    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. Outcome Measures for Clinical Trials in Down Syndrome.

    Science.gov (United States)

    Esbensen, Anna J; Hooper, Stephen R; Fidler, Deborah; Hartley, Sigan L; Edgin, Jamie; d'Ardhuy, Xavier Liogier; Capone, George; Conners, Frances A; Mervis, Carolyn B; Abbeduto, Leonard; Rafii, Michael; Krinsky-McHale, Sharon J; Urv, Tiina

    2017-05-01

    Increasingly individuals with intellectual and developmental disabilities, including Down syndrome, are being targeted for clinical trials. However, a challenge exists in effectively evaluating the outcomes of these new pharmacological interventions. Few empirically evaluated, psychometrically sound outcome measures appropriate for use in clinical trials with individuals with Down syndrome have been identified. To address this challenge, the National Institutes of Health (NIH) assembled leading clinicians and scientists to review existing measures and identify those that currently are appropriate for trials; those that may be appropriate after expansion of age range addition of easier items, and/or downward extension of psychometric norms; and areas where new measures need to be developed. This article focuses on measures in the areas of cognition and behavior.

  15. Clinical Aspects of Type 3 Long-QT Syndrome

    DEFF Research Database (Denmark)

    Wilde, Arthur A M; Moss, Arthur J; Kaufman, Elizabeth S

    2016-01-01

    BACKGROUND: -Risk stratification in patients with type 3 long QT syndrome (LQT3) by clinical and genetic characteristics and effectiveness of ß-blocker therapy have not been studied previously in a large LQT3 population. METHODS: -The study population included 406 LQT3 patients with 51 different......-blocker therapy reduces this risk in females, but efficacy in males could not be conclusively determined due to low number of events....

  16. Alstr?m Syndrome: Genetics and Clinical Overview

    OpenAIRE

    Marshall, Jan D; Maffei, Pietro; Collin, Gayle B; Naggert, J?rgen K

    2011-01-01

    Alstr?m syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Symptoms first appear in infancy and progressive development of multi-organ pathology leads to a reduced life expectancy. Variability in age of onset and severity of clinic...

  17. Chronic pelvic pain syndrome: role of a thorough clinical assessment.

    Science.gov (United States)

    Quaghebeur, Jörgen; Wyndaele, Jean-Jacques

    2015-04-01

    Chronic pelvic pain syndrome (CPPS) presents with a variety of symptoms affecting multiple systems. There is no universal treatment that can be given to all patients with CPPS. The results of treatment depend greatly on an accurate diagnosis. A thorough clinical assessment, including a "four-step plan", should include paying special attention to the musculoskeletal system. This assessment is not difficult to perform and provides valuable information on possible muscular problems and neuropathy.

  18. Meier-Gorlin syndrome Clinical genetics and genomics

    OpenAIRE

    Munnik, Sonja; Hoefsloot, Lies; Roukema, Jolt; Schoots, Jeroen; Knoers, Nine; Brunner, H.G.; Jackson, Andrew; Bongers, Ernie

    2015-01-01

    textabstractMeier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-...

  19. Colony stimulating factors and their clinical implication

    International Nuclear Information System (INIS)

    Asano, Shigetaka

    1989-01-01

    Granulocytes and macrophage are dependent for their production and/or functional activation in vitro on the presence of a family of glycoproteins. They are generally called colony-stimulating factors (CSFs) because of their capacity to stimulate colony formation in semi-solid cultures, and are currently classified into four distinct subtypes, that is, Multi-CSF, GM-CSF, G-CSF and M-CSF, according to the cell type of colonies formed under their stimulation or their target cell specificity. All of the murine and human CSF subtypes and the genes for them have become available in a purified form and in a large scale, and now allow us to investigate their interactions, the mechanisms for their actions, the cell-cell interactions leading to their production and secretion, and their actions in vivo. Furthermore, the preclinical and/or clinical studies which were carried out using the purified CSFs strongly indicate that human CSFs will be effective strategies for preventing and treating opportunistic bacterial and fungal infection as a major cause of death in granulocytopenic patients. (author)

  20. The Korsakoff syndrome: clinical aspects, psychology and treatment.

    Science.gov (United States)

    Kopelman, Michael D; Thomson, Allan D; Guerrini, Irene; Marshall, E Jane

    2009-01-01

    The Korsakoff syndrome is a preventable memory disorder that usually emerges (although not always) in the aftermath of an episode of Wernicke's encephalopathy. The present paper reviews the clinical and scientific literature on this disorder. A systematic review of the clinical and scientific literature on Wernicke's encephalopathy and the alcoholic Korsakoff syndrome. The Korsakoff syndrome is most commonly associated with chronic alcohol misuse, and some heavy drinkers may have a genetic predisposition to developing the syndrome. The characteristic neuropathology includes neuronal loss, micro-haemorrhages and gliosis in the paraventricular and peri-aqueductal grey matter. Lesions in the mammillary bodies, the mammillo-thalamic tract and the anterior thalamus may be more important to memory dysfunction than lesions in the medial dorsal nucleus of the thalamus. Episodic memory is severely affected in the Korsakoff syndrome, and the learning of new semantic memories is variably affected. 'Implicit' aspects of memory are preserved. These patients are often first encountered in general hospital settings where they can occupy acute medical beds for lengthy periods. Abstinence is the cornerstone of any rehabilitation programme. Korsakoff patients are capable of new learning, particularly if they live in a calm and well-structured environment and if new information is cued. There are few long-term follow-up studies, but these patients are reported to have a normal life expectancy if they remain abstinent from alcohol. Although we now have substantial knowledge about the nature of this disorder, scientific questions (e.g. regarding the underlying genetics) remain. More particularly, there is a dearth of appropriate long-term care facilities for these patients, given that empirical research has shown that good practice has beneficial effects.

  1. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

    Science.gov (United States)

    Carcavilla, Atilano; García-Miñaúr, Sixto; Pérez-Aytés, Antonio; Vendrell, Teresa; Pinto, Isabel; Guillén-Navarro, Encarna; González-Meneses, Antonio; Aoki, Yoko; Grinberg, Daniel; Ezquieta, Begoña

    2015-01-20

    To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). Clinical data from patients submitted for genetic analysis were collected. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused on exons carrying recurrent mutations, and of all KRAS exons were performed. Six different mutations in BRAF were identified in 9 patients, as well as 2 MAP2K1 mutations. Short stature, developmental delay, language difficulties and ectodermal anomalies were more frequent in CFC patients when compared with other neuro-cardio-faciocutaneous syndromes (P<.05). In at least 2 cases molecular testing helped reconsider the diagnosis. CFC patients showed a rather severe phenotype but at least one patient with BRAF mutation showed no developmental delay, which illustrates the variability of the phenotypic spectrum caused by BRAF mutations. Molecular genetic testing is a valuable tool for differential diagnosis of CFC and NS related disorders. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  2. Clinical neurogenetics: fragile x-associated tremor/ataxia syndrome.

    Science.gov (United States)

    Hall, Deborah A; O'Keefe, Joan A

    2013-11-01

    This article summarizes the clinical findings, genetics, pathophysiology, and treatment of fragile X-associated tremor ataxia syndrome. The disorder occurs from a CGG repeat (55-200) expansion in the fragile X mental retardation 1 gene. It manifests clinically in kinetic tremor, gait ataxia, and executive dysfunction, usually in older men who carry the genetic abnormality. The disorder has distinct radiographic and pathologic findings. Symptomatic treatment is beneficial in some patients. The inheritance is X-linked and family members may be at risk for other fragile X-associated disorders. This information is useful to neurologists, general practitioners, and geneticists. Copyright © 2013. Published by Elsevier Inc.

  3. Wolff-Parkinson-White syndrome: Implications for an anaesthesiologist

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    Vinaya Udaybhaskar

    2017-01-01

    Full Text Available Wolff-Parkinson-White (WPW syndrome is an electrical conduction abnormality of the heart that can induce potentially fatal arrhythmias at intermittent intervals. The induction and maintenance of general anaesthesia for a patient with WPW syndrome are risky due to the triggering capability of arrhythmias by various drugs and instrumentation. We hereby present the case of a 28-year-old male with previous cardiac illness, admitted for neurosurgical procedure, with drug-controlled WPW syndrome. The pre-operative optimisation, intraoperative scrutiny and vigil, along with readiness of standby medications and defibrillator made the ingress and egress from general anaesthesia uneventful. Thus, the potential dangers of WPW syndrome can be circumvented with watchful preparedness and meticulous monitoring.

  4. [Carpal tunnel syndrome in children. About 10 clinical cases].

    Science.gov (United States)

    Leduc, A; Perrot, P; Truffandier, M V; Bellier-Waast, F; Duteille, F

    2014-06-01

    The carpal tunnel syndrome is a common peripheral neuropathy in adults but is rare in children. We report a series of 10 carpal tunnel syndromes in children. We have supported five children, two males and three females, with a bilateral carpal tunnel syndrome. We studied the clinical history (history, symptoms, stage of disease), therapeutic management and remote development. Three children were diagnosed with a mucopolysaccharidosis, the fourth with VATER association. For the last child, it was a form considered idiopathic. Two children were referred for night pains, the others for under-utilization of their first three fingers, two of which had a thenar atrophy. Four children underwent an electromyogram for diagnostic confirmation. We realized open surgical treatment at one time, by section of the carpal ligament. The average age of our patients was 4years. The average decline in the surgical study was 19 months. Postoperatively, we noted, in all patients, complete regression of the painful symptoms, a sensory improvement and recovery of the opposition of the thumb. The scarcity of carpal tunnel syndrome in children and the atypical symptoms may cause diagnostic delay, with serious consequences. We keep vigilant and ready to access to additional tests (electromyogram). For our team, the therapeutic approach is a systematic open surgical treatment. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  5. Memory profiles of Down, Williams, and fragile X syndromes: implications for reading development.

    Science.gov (United States)

    Conners, Frances A; Moore, Marie S; Loveall, Susan J; Merrill, Edward C

    2011-06-01

    The purpose of this review was to understand the types of memory impairments that are associated with intellectual disability (ID, formerly called mental retardation) and the implications of these impairments for reading development. Specifically, studies on working memory, delayed memory and learning, and semantic/conceptual memory in Down syndrome, Williams syndrome, and fragile X syndrome were examined. A distinct memory profile emerged for each of the 3 etiologies of ID. Memory profiles are discussed in relation to strengths and weaknesses in reading skills in these three etiologies. We suggest that reading instruction be designed to capitalize on relatively stronger memory skills while providing extra support for especially challenging aspects of reading.

  6. A review of the clinical implications of bisphosphonates in dentistry.

    Science.gov (United States)

    Borromeo, G L; Tsao, C E; Darby, I B; Ebeling, P R

    2011-03-01

    Bisphosphonates are drugs that suppress bone turnover and are commonly prescribed to prevent skeletal related events in malignancy and for benign bone diseases such as osteoporosis. Bisphosphonate associated jaw osteonecrosis (ONJ) is a potentially debilitating, yet poorly understood condition. A literature review was undertaken to review the dental clinical implications of bisphosphonates. The present paper briefly describes the postulated pathophysiology of ONJ and conditions with similar clinical presentations. The implications of bisphosphonates for implantology, periodontology, orthodontics and endodontics are reviewed. Whilst bisphosphonates have potential positive applications in some clinical settings, periodontology particularly, further clinical research is limited by the risk of ONJ. Prevention and management are reviewed, including guidelines for reducing cumulative intravenous bisphosphonate dose, cessation of bisphosphonates prior to invasive dental treatment or after ONJ development, and the use of serum beta-CTX-1 in assessing risk. In the context of substantial uncertainty, the implications of bisphosphonate use in the dental clinical setting are still being determined. © 2010 Australian Dental Association.

  7. Anatomical, Clinical and Electrical Observations in Piriformis Syndrome

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    Assoum Hani A

    2010-01-01

    Full Text Available Abstract Background We provided clinical and electrical descriptions of the piriformis syndrome, contributing to better understanding of the pathogenesis and further diagnostic criteria. Methods Between 3550 patients complaining of sciatica, we concluded 26 cases of piriformis syndrome, 15 females, 11 males, mean age 35.37 year-old. We operated 9 patients, 2 to 19 years after the onset of symptoms, 5 had piriformis steroids injection. A dorsolumbar MRI were performed in all cases and a pelvic MRI in 7 patients. The electro-diagnostic test was performed in 13 cases, between them the H reflex of the peroneal nerve was tested 7 times. Results After a followup 1 to 11 years, for the 17 non operated patients, 3 patients responded to conservative treatment. 6 of the operated had an excellent result, 2 residual minor pain and one failed. 3 new anatomical observations were described with atypical compression of the sciatic nerve by the piriformis muscle. Conclusion While the H reflex test of the tibial nerve did not give common satisfaction in the literature for diagnosis, the H reflex of the peroneal nerve should be given more importance, because it demonstrated in our study more specific sign, with six clinical criteria it contributed to improve the method of diagnosis. The cause of this particular syndrome does not only depend on the relation sciatic nerve-piriformis muscle, but the environmental conditions should be considered with the series of the anatomical anomalies to explain the real cause of this pain.

  8. Clinical outcome and risk stratification in Brugada syndrome

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    Tadashi Wada, MD

    2013-04-01

    Full Text Available Since the first report on Brugada syndrome, various risk markers for the prediction of ventricular fibrillation (VF in patients with Brugada syndrome have been reported. Multicenter trials reported spontaneous type 1 electrocardiogram (ECG and disease symptoms as prognostic predictors. VF induction by programmed electrical stimulation is still controversial, and most of the studies have failed to prove its significance for the prediction of spontaneous VF episodes. In Japan, although most multicenter studies have shown that patients with type 1 ECG were at high risk, it is difficult to determine the indication for implantation of an implantable cardioverter defibrillator only based on the ECG type. Recent studies have added new risk markers, such as inferolateral early repolarization, fragmented QRS, and shorter effective refractory periods of the ventricle, in addition to type 1 ECG and symptoms. Here, we review the clinical outcome and indices reported as reliable prognostic factors of Brugada syndrome with a focus on the clinical and ECG markers for risk stratification.

  9. Exploring accountability of clinical ethics consultants: practice and training implications.

    Science.gov (United States)

    Weise, Kathryn L; Daly, Barbara J

    2014-01-01

    Clinical ethics consultants represent a multidisciplinary group of scholars and practitioners with varied training backgrounds, who are integrated into a medical environment to assist in the provision of ethically supportable care. Little has been written about the degree to which such consultants are accountable for the patient care outcome of the advice given. We propose a model for examining degrees of internally motivated accountability that range from restricted to unbounded accountability, and support balanced accountability as a goal for practice. Finally, we explore implications of this model for training of clinical ethics consultants from diverse academic backgrounds, including those disciplines that do not have a formal code of ethics relating to clinical practice.

  10. Supernatural impotence: historical review with anthropological and clinical implications.

    Science.gov (United States)

    Margolin, J; Witztum, E

    1989-12-01

    The historical and cultural background of the belief in supernatural impotence is presented, emphasizing its possible implications for clinical practice. A brief historical survey of the concept in Judaism and Christianity is followed by a short anthropological survey of supernatural impotence in different ethnic subcultures in Israel. A case demonstration exemplifies the connection between understanding the patient's cultural background and beliefs and the clinical competence of the therapist. The relationship between the clinical-therapeutic process in psychiatric practice and knowledge of the patient's cultural background and beliefs is stressed.

  11. [Clinical study of 12 cases with obstetric mirror syndrome].

    Science.gov (United States)

    Wu, Lin-lin; Wang, Chen-hong; Li, Zhi-quan

    2012-03-01

    To discuss the clinical features, management, pregnancy outcome and prognosis of obstetric mirror syndrome. The clinical data of 12 cases with obstetric mirror syndrome at Shenzhen Maternity and Child Healthcare Hospital from April 2008 to December 2010 were collected to retrospectively analyze the clinical features, management, pregnancy outcome and prognosis. (1) ETIOLOGY: 12 cases with obstetric mirror syndrome included 9 cases of Bart's hydrops fetalis, 2 cases with fetal complicated congenital cardiac anomalies, and 1 case of unknown etiology. (2) Gestational age at diagnosis and at delivery: gestational age at diagnosis ranged from 28 to 36 weeks [mean (31.5 ± 4.7) weeks], and gestational age at delivery ranged from 28(+3) to 38 weeks [mean (32.9 ± 2.9) weeks]. There were no significant differences between the gestational age at diagnosis and at delivery in consistence with severe preeclampsia group and mild preeclampsia group [(31.8 ± 2.3) weeks vs. (30.9 ± 7.2) weeks, (32.5 ± 2.3) weeks vs. (33.5 ± 3.9) weeks, P > 0.05]. (3) The patients with obstetric mirror syndrome can present a preeclampsia-like syndrome: maternal extremity edema in 12 cases, headache and visual disturbance in 1 case, proteinuria in 11 cases, elevated blood pressure in 5 cases, elevated uric acid in 9 cases, hypoproteinemia in 12 cases, elevated creatinine in 3 case, elevated liver enzyme in 1 case, thrombocytopenia in 2 cases. The major complications included 1 case of HELLP syndrome, acute pulmonary edema, placental abruption, amnionic fluid embolism, DIC respectively, 3 cases of acute kidney failure and 6 cases of postpartum hemorrhage. (4) Sonographic findings: 1) Hydrops fetalis: fetal ultrasound revealed pleural fluid, fetal ascites, skin edema, scalp edema, encephalocolele enlargement, hydropericardium and increased cardio-chest ratio. 2) Placenta megaly: the placental pathological examination revealed edematous and large in 12 cases. Placental thickness was beyond 4 cm in

  12. Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

    Science.gov (United States)

    Seys, Elsa; Andrini, Olga; Keck, Mathilde; Mansour-Hendili, Lamisse; Courand, Pierre-Yves; Simian, Christophe; Deschenes, Georges; Kwon, Theresa; Bertholet-Thomas, Aurélia; Bobrie, Guillaume; Borde, Jean Sébastien; Bourdat-Michel, Guylhène; Decramer, Stéphane; Cailliez, Mathilde; Krug, Pauline; Cozette, Paul; Delbet, Jean Daniel; Dubourg, Laurence; Chaveau, Dominique; Fila, Marc; Jourde-Chiche, Noémie; Knebelmann, Bertrand; Lavocat, Marie-Pierre; Lemoine, Sandrine; Djeddi, Djamal; Llanas, Brigitte; Louillet, Ferielle; Merieau, Elodie; Mileva, Maria; Mota-Vieira, Luisa; Mousson, Christiane; Nobili, François; Novo, Robert; Roussey-Kesler, Gwenaëlle; Vrillon, Isabelle; Walsh, Stephen B; Teulon, Jacques; Blanchard, Anne; Vargas-Poussou, Rosa

    2017-08-01

    Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene ( CLCNKB ), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with CLCNKB mutations. Functional analyses were performed in Xenopus laevis oocytes for eight missense and two nonsense mutations. We detected 60 mutations, including 27 previously unreported mutations. Among patients, 29.5% had a phenotype of ante/neonatal Bartter syndrome (polyhydramnios or diagnosis in the first month of life), 44.5% had classic Bartter syndrome (diagnosis during childhood, hypercalciuria, and/or polyuria), and 26.0% had Gitelman-like syndrome (fortuitous discovery of hypokalemia with hypomagnesemia and/or hypocalciuria in childhood or adulthood). Nine of the ten mutations expressed in vitro decreased or abolished chloride conductance. Severe (large deletions, frameshift, nonsense, and essential splicing) and missense mutations resulting in poor residual conductance were associated with younger age at diagnosis. Electrolyte supplements and indomethacin were used frequently to induce catch-up growth, with few adverse effects. After a median follow-up of 8 (range, 1-41) years in 77 patients, chronic renal failure was detected in 19 patients (25%): one required hemodialysis and four underwent renal transplant. In summary, we report a genotype/phenotype correlation for Bartter syndrome type 3: complete loss-of-function mutations associated with younger age at diagnosis, and CKD was observed in all phenotypes. Copyright © 2017 by the American Society of Nephrology.

  13. Clinical and genetic aspects of Marfan syndrome and familial thoracic aortic aneurysms and dissections

    NARCIS (Netherlands)

    Hilhorst-Hofstee, Yvonne

    2013-01-01

    This thesis concerns the clinical and genetic aspects of familial thoracic aortic aneurysms and dissections, in particular in Marfan syndrome. It includes the Dutch multidisciplinary guidelines for diagnosis and management of Marfan syndrome. These guidelines contain practical directions for

  14. A case of clinical Reye syndrome presenting characteristic CT changes

    International Nuclear Information System (INIS)

    Hino, Tamaki; Sai, Hoshun; Morikawa, Yuji; Mizuta, Ryuzo; Okuno, Takehiko.

    1984-01-01

    A 9-month-old male infant was admitted to our hospital on the second day of cold like syndrome because of high fever, convulsion, coma, and decerebrate rigidity. Serum GOT, GPT, LDH, and CPK were markedly elevated. Serum ammonia was slightly increased, and hypoglycemia was present. The cerebrospinal fluid showed no pleocytosis, normal sugar content, but increased protein. Thus we made a diagnosis of clinical Reye syndrome according to the criteria by Yamashita, et al. A CT on the day of admission showed symmetrical low-density areas in the posterior fossa and the regions of thalamus. Ringed enhancements were seen around the areas of low density in the thalamus on the twenty-second hospital day. We consider that these lesions may represent the infarction due to obstruction of the thalamoperforant arteries caused by cerebral edema in the early stage of the disease. (author)

  15. Case of clinical Reye syndrome presenting characteristic CT changes

    Energy Technology Data Exchange (ETDEWEB)

    Hino, Tamaki; Sai, Hoshun; Morikawa, Yuji; Mizuta, Ryuzo [Kyoto Second Red Cross Hospital (Japan); Okuno, Takehiko

    1984-05-01

    A 9-month-old male infant was admitted to our hospital on the second day of cold like syndrome because of high fever, convulsion, coma, and decerebrate rigidity. Serum GOT, GPT, LDH, and CPK were markedly elevated. Serum ammonia was slightly increased, and hypoglycemia was present. The cerebrospinal fluid showed no pleocytosis, normal sugar content, but increased protein. Thus we made a diagnosis of clinical Reye syndrome according to the criteria by Yamashita, et al. A CT on the day of admission showed symmetrical low-density areas in the posterior fossa and the regions of thalamus. Ringed enhancements were seen around the areas of low density in the thalamus on the twenty-second hospital day. We consider that these lesions may represent the infarction due to obstruction of the thalamoperforant arteries caused by cerebral edema in the early stage of the disease.

  16. Alagille syndrome case report: implications for forensic pathology and anthropology.

    Science.gov (United States)

    Petaros, Anja; Miletic, Damir; Stifter, Sanja; Slaus, Mario; Stemberga, Valter

    2015-05-01

    This case report offers a multidisciplinary interpretation of the violent death of a 4-year-old girl suffering from Alagille syndrome who died after a low-height fall that resulted in temporal bone fracture and a large epidural hematoma. The article evidences the macroscopical and microscopical characteristics of the syndrome, focusing especially on the skeletal findings that emerged during autopsy. In the case report, distinction is made between a possible accidental or non-accidental nature of the injuries and the characteristics of the injury have been interpreted in the light of the existing data on Alagille syndrome. In conclusion, the death was documented as accidental since abnormalities in the skeletal system evidenced during autopsy have predisposed the death of the child albeit through a very mild head trauma. The case report evidences the importance of studying features of skull macro- and microstructure in patients with Alagille syndrome, which have been, until now, underreported in literature and which might contribute to fracture vulnerability in these patients. Although rare, Alagille syndrome is a condition that should be known to forensic medicine practitioners and whose features and peculiarities must be taken into consideration in pediatric autopsy and suspected child abuse cases.

  17. Clinical and inheritance profiles of Kallmann syndrome in Jordan

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    Shegem Nadima S

    2004-10-01

    Full Text Available Abstract Background Proper management of patients with Kallmann syndrome (KS allows them to attain a normal reproductive health. The purpose of this study is to demonstrate the presentation modalities, phenotypes and the modes of inheritance among 32 patients with Kallmann syndrome in Jordan. Recognition of the syndrome allows for prompt proper management and provision of genetic counselling. Subjects Over a period of five years (1999–2004, the clinical and inheritance profiles of 26 male and 6 female patients with Kallmann syndrome from 12 families were evaluated at the National Center for Diabetes, Endocrinology and Genetics in Jordan. Results The patients belonged to twelve Jordanian and Palestinian families and their age at presentation ranged from 4 – 46 years. Nine boys aged 4–14 years presented with cryptorchidism and microphallus, all other males presented with delayed puberty, hypogonadism and/or infertility. The main presentation among six female patients was primary amenorrhea. Intrafamilial variability in clinical phenotype was specifically evident for renal abnormalities and sensorineural hearing impairment. Familial KS was diagnosed in 27 patients belonging to five families with the X-linked mode of inheritance and two families with the autosomal recessive mode of inheritance. Conclusions (1 the majority of cases in this study represented the X-linked form of KS, which might point to a high prevalence of Kal 1 gene in the population. (2 Genetic counselling helps these families to reach a diagnosis at an early age and to decide about their reproductive options. (3 Children presenting with cryptorchidism and microphallus in our population should be investigated for KS.

  18. Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

    Science.gov (United States)

    Killoran, C E; Abbott, M; McKusick, V A; Biesecker, L G

    2000-07-01

    The polydactyly, imperforate anus, vertebral anomalies syndrome (PIV, OMIM 174100) was determined as a distinct syndrome by Say and Gerald in 1968 (Say B, Gerald PS. Lancet 1968: 2: 688). We noted that the features of PIV overlap with the VATER association and Pallister-Hall syndrome (PHS, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, hypoplastic nails, renal anomalies, imperforate anus, and hypothalamic hamartoma. Truncation mutations in GL13, a zinc finger transcription factor gene, have been shown to cause PHS. We performed a molecular evaluation on a patient diagnosed with PIV, whose mother, grandfather, and maternal aunt had similar malformations. We sequenced the GLI3 gene in the patient to determine if she had a mutation. The patient was found to have a deletion in nucleotides 2188-2207 causing a frameshift mutation that predicts a truncated protein product of the gene. Later clinical studies demonstrated that the patient also has a hypothalamic hamartoma, a finding in PHS. We concluded that this family had atypical PHS and not PIV. This result has prompted us to re-evaluate the PIV literature to see if PIV is a valid entity. Based on these data and our examination of the literature, we conclude that PIV is not a valid diagnostic entity. We conclude that patients diagnosed with PIV should be reclassified as having VACTERL, or PHS, or another syndrome with overlapping malformations.

  19. Rett Syndrome: Crossing the Threshold to Clinical Translation

    Science.gov (United States)

    Katz, David M.; Bird, Adrian; Coenraads, Monica; Gray, Steven J.; Menon, Debashish U.; Philpot, Benjamin D.; Tarquinio, Daniel C.

    2016-01-01

    Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for treatments for this devastating disorder, optimism for developing RTT treatments derives from a unique convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinical models, a strong clinical research infrastructure highlighted by an NIH-funded natural history study and well-established clinics with significant patient populations. Here, we review recent advances in understanding the biology of RTT, particularly promising preclinical findings, lessons from past clinical trials, and critical elements of trial design for rare disorders. PMID:26830113

  20. Clinical Experience of the Klippel-Trenaunay Syndrome

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    Hyung Min Sung

    2015-09-01

    Full Text Available BackgroundThe Klippel-Trenaunay syndrome (KTS is characterized by three clinical features, namely cutaneous capillary malformations, venous malformations, and soft tissue and/or bony hypertrophy of the extremities. The varied manifestations are attributed to the unpredictable clinical nature and prognosis of the syndrome. To elucidate the clinical characteristics of this disease, we reviewed a relatively large number of KTS patients who presented to our vascular anomalies center.MethodsWe conducted a retrospective study with 19 patients who were diagnosed with KTS and treated in our vascular anomalies clinic between 2003 and 2014, and examined their demographic characteristics, their clinical features, and the treatments administered.ResultsThe sex distribution was balanced, with 9 (47% males and 10 (53% females. The mean follow-up period was 4.1 years (range, 7 months-9 years. Most of the patients received conservative treatments such as medication or physiotherapy. Compression therapies such as wearing of elastic garments/bandages were also administered, and surgical interventions were considered only when the patients became excessively symptomatic. Other treatments included laser therapy and sclerotherapy, and all the treatments were adjusted according to each case, tailored to the conditions of the individual patients.ConclusionsKTS is an extremely rare, multifactorial disorder that induces widely varied symptoms. Because of this unique feature, plastic surgeons, when not careful, tend to attach a one-sided importance to typical symptoms such as limb hypertrophy or capillary malformation and thus overlook other symptoms and clinical features. KTS can be suspected in all infants who show capillary malformations or limb hypertrophy and require a multi-disciplinary approach for comprehensive management.

  1. Stevens Johnson syndrome, toxic epidermal necrolysis and SJS-TEN overlap: A retrospective study of causative drugs and clinical outcome

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    Sharma Vinod

    2008-01-01

    Full Text Available Background and Aims: Stevens Johnson syndrome (SJS, toxic epidermal necrolysis (TEN and SJS-TEN overlap are serious adverse cutaneous drug reactions. Drugs are often implicated in these reactions. Methods: A retrospective analysis of inpatients′ data with these dermatological diagnoses were carried out for three years, to study the causative drugs, clinical outcome, and mortality in these conditions. Results: Thirty patients (15 TEN, nine SJS-TEN overlap, and six SJS were admitted. In 21 cases, multiple drugs were implicated whereas single drugs were responsible in nine. Anticonvulsants (35.08% were the most commonly implicated drugs followed by antibiotics (33.33% and NSAIDS (24.56%. Twenty-five patients recovered whereas five died (four TEN, one SJS-TEN overlap. Conclusion: Anticonvulsants, antibiotics and NSAIDs were the most frequently implicated drugs. TEN causes higher mortality than both SJS and SJS-TEN overlap.

  2. Prognostic implications of mutation-specific QTc standard deviation in congenital long QT syndrome

    NARCIS (Netherlands)

    Mathias, Andrew; Moss, Arthur J.; Lopes, Coeli M.; Barsheshet, Alon; McNitt, Scott; Zareba, Wojciech; Robinson, Jennifer L.; Locati, Emanuela H.; Ackerman, Michael J.; Benhorin, Jesaia; Kaufman, Elizabeth S.; Platonov, Pyotr G.; Qi, Ming; Shimizu, Wataru; Towbin, Jeffrey A.; Michael Vincent, G.; Wilde, Arthur A. M.; Zhang, Li; Goldenberg, Ilan

    2013-01-01

    Individual corrected QT interval (QTc) may vary widely among carriers of the same long QT syndrome (LQTS) mutation. Currently, neither the mechanism nor the implications of this variable penetrance are well understood. To hypothesize that the assessment of QTc variance in patients with congenital

  3. Joubert syndrome: Clinical and radiological characteristics of nine patients

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    Ahmed Farag Elhassanien

    2013-01-01

    Full Text Available Background: Joubert Syndrome (JS is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient. Aim of the Study: To spotlight and increase awareness of clinical profile and neuroimaging findings of children with Joubert syndrome. Methods: This is a retrospective case series study of patients with JS who attended the Pediatric Neurology Clinic in Aladan and Alfarawanya Hospitals in Kuwait, from September 2007 to September 2012. Clinical and radiological data were obtained from the patient medical records. Results: Cerebellar vermis hypoplasia/aplasia and apnea were present in all patients, polydactly in 3 of 16, renal problems with cysts in 5 patients and 11 of 16 had abnormal electroretinograms (ERGs. Blood investigations of organic acids, amino acids and very-long-chain fatty acid, were normal in the all the nine patients. Conclusion: JS is a rare genetic brain malformation with association of retinal dystrophy and renal abnormalities. The retinal dystrophy may be progressive. The prognosis of patients depends mainly on the degree of brain malformation.

  4. Clinical Characteristics of Dysphagia in Children with Down Syndrome.

    Science.gov (United States)

    Jackson, Arwen; Maybee, Jennifer; Moran, Maura K; Wolter-Warmerdam, Kristine; Hickey, Francis

    2016-10-01

    Aspiration is an often unrecognized comorbidity in children with Down syndrome with serious medical consequences. This retrospective chart review of swallow study reports characterizes oral and pharyngeal phase dysphagia and diet modifications on videofluoroscopic swallow studies (VFSS) in a large cohort of children with Down syndrome. A total of 158 pediatric patients (male = 95; female = 63; mean age 2.10 years, SD 3.17 years) received an initial VFSS at a pediatric teaching hospital as part of their medical care. A total of 56.3 % (n = 89) children had pharyngeal phase dysphagia with aspiration and deep laryngeal penetration occurring most frequently. Of the 61 patients who aspirated, 90.2 % (n = 55) did so silently with no cough or overt clinical symptoms. In 76.7 % of cases of pharyngeal phase dysphagia, a functional feeding plan, with use of thickened liquids or change in feeding system to control flow rate and/or bolus size, was able to be established, which allowed children to continue eating by mouth. Thickened liquids (76.7 %, n = 46) were the most effective adaptation, with change in feeding system alone effective in only 8.3 % (n = 5) cases. Oral phase dysphagia was reported in the majority of patients (63.8 %, n = 88/138); however, this was not predictive of pharyngeal phase dysphagia. Age, sex, and reason for referral, including prior clinical symptoms, did not have a statistically significant impact on the presence of dysphagia. This comprehensive review has application to clinical understanding and management of dysphagia in children with Down syndrome.

  5. Imitation in Fragile X Syndrome: Implications for Autism

    Science.gov (United States)

    Macedoni-Luksic, Marta; Greiss-Hess, Laura; Rogers, Sally J.; Gosar, David; Lemons-Chitwood, Kerrie; Hagerman, Randi

    2009-01-01

    To address the specific impairment of imitation in autism, the imitation abilities of 22 children with fragile X syndrome (FXS) with and without autism were compared. Based on previous research, we predicted that children with FXS and autism would have significantly more difficulty with non-meaningful imitation tasks. After controlling for…

  6. Savant Syndrome: Case Studies, Hypotheses, and Implications for Special Education.

    Science.gov (United States)

    Cheatham, Susan Klug; And Others

    1995-01-01

    The concept of savant syndrome, encompassing those individuals historically known as "idiot savants," is reviewed. Case studies demonstrating special abilities in the areas of calendar calculating, musical ability, artistic talent, memorization, mathematical skills, mechanical achievement, and fine sensory discrimination are discussed,…

  7. Usher's Syndrome: The Personal, Social, and Emotional Implications

    Science.gov (United States)

    American Annals of the Deaf, 1978

    1978-01-01

    The special issue presents a collection of 10 studies presented at a major workshop on Usher's Syndrome (a condition of congenital deafness accompanied by progressive loss of vision) which was sponsored by the South Central Regional Center for Deaf-blind Children in Dallas, Texas, September, 1977. (IM)

  8. Potential Clinical Implications of the Urotensin II Receptor Antagonists

    Directory of Open Access Journals (Sweden)

    Emilie Kane

    2011-07-01

    Full Text Available Urotensin-II (UII, which binds to its receptor UT, plays an important role in the heart, kidneys, pancreas, adrenal gland and CNS. In the vasculature, it acts as a potent endothelium-independent vasoconstrictor and endothelium-dependent vasodilator. In disease states, this constriction-dilation equilibrium is disrupted. There is an upregulation of the UII system in heart disease, metabolic syndrome and kidney failure. The increase in UII release and UT expression suggest that UII system may be implicated in the pathology and pathogenesis of these diseases by causing an increase in ACAT-1 activity leading to SMC proliferation and foam cell infiltration, insulin resistance (DMII, as well as inflammation, high blood pressure and plaque formation. Recently, UT antagonists such as SB-611812, palosuran, and most recently a piperazino-isoindolinone based antagonist have been developed in the hope of better understanding the UII system and treating its associated diseases.

  9. HBV DNA Integration: Molecular Mechanisms and Clinical Implications

    Science.gov (United States)

    Tu, Thomas; Budzinska, Magdalena A.; Shackel, Nicholas A.; Urban, Stephan

    2017-01-01

    Chronic infection with the Hepatitis B Virus (HBV) is a major cause of liver-related morbidity and mortality. One peculiar observation in cells infected with HBV (or with closely‑related animal hepadnaviruses) is the presence of viral DNA integration in the host cell genome, despite this form being a replicative dead-end for the virus. The frequent finding of somatic integration of viral DNA suggests an evolutionary benefit for the virus; however, the mechanism of integration, its functions, and the clinical implications remain unknown. Here we review the current body of knowledge of HBV DNA integration, with particular focus on the molecular mechanisms and its clinical implications (including the possible consequences of replication-independent antigen expression and its possible role in hepatocellular carcinoma). HBV DNA integration is likely to influence HBV replication, persistence, and pathogenesis, and so deserves greater attention in future studies. PMID:28394272

  10. Frequency and clinical, hormonal and ultrasonographic characteristics suggestive of polycystic ovarian syndrome in a group of females with metabolic syndrome

    International Nuclear Information System (INIS)

    Ovies Carballo, Gisel; Dominguez Alonso, Emma; Verdeja Varela, Olga L; Zamora Recinos, Hugo

    2008-01-01

    The polycystic ovarian syndrome is the most frequent endocrine affection in females at reproductive age. Nowadays, it is known that insulin resistance and consequent hyperinsulinism seem to be the basis of the disorders characterizing it. That's why, it is not erroneous to think that in females with metabolic syndrome, whose physiopathological bases are insulin resistance and hyperinsulinism, there may appear clinical, humoral and ultrasonographic elements of the polycystic ovarian syndrome

  11. [Long QT syndrome. History, genetics, clinical symptoms, causes and therapy].

    Science.gov (United States)

    Krönauer, T; Friederich, P

    2015-08-01

    The long QT syndrome is caused by a change in cardiac repolarization due to functional ion channel defects. A differentiation is made between a congenital (cLQTS) and an acquired (aLQTS) form of the disease. The disease results in the name-giving prolongation of the QT interval in the electrocardiogram and represents a predisposition for cardiac arrhythmia and sudden cardiac death. This article summarizes the current knowledge on the history, pathophysiology, clinical symptoms and therapy of cLQTS and aLQTS. This knowledge of pathophysiological features of the symptoms allows the underlying anesthesiological approach for individualized perioperative concepts for patients suffering from LQTS to be derived.

  12. [Clinical Results of Endoscopic Treatment of Greater Trochanteric Pain Syndrome].

    Science.gov (United States)

    Zeman, P; Rafi, M; Skala, P; Zeman, J; Matějka, J; Pavelka, T

    2017-01-01

    PURPOSE OF THE STUDY This retrospective study aims to present short-term clinical outcomes of endoscopic treatment of patients with greater trochanteric pain syndrome (GTPS). MATERIAL AND METHODS The evaluated study population was composed of a total of 19 patients (16 women, 3 men) with the mean age of 47 years (19-63 years). In twelve cases the right hip joint was affected, in the remaining seven cases it was the left side. The retrospective evaluation was carried out only in patients with greater trochanteric pain syndrome caused by independent chronic trochanteric bursitis without the presence of m. gluteus medius tear not responding to at least 3 months of conservative treatment. In patients from the followed-up study population, endoscopic trochanteric bursectomy was performed alone or in combination with iliotibial band release. The clinical results were evaluated preoperatively and with a minimum follow-up period of 1 year after the surgery (mean 16 months). The Visual Analogue Scale (VAS) for assessment of pain and WOMAC (Western Ontario MacMaster) score were used. In both the evaluated criteria (VAS and WOMAC score) preoperative and postoperative results were compared. Moreover, duration of surgery and presence of postoperative complications were assessed. Statistical evaluation of clinical results was carried out by an independent statistician. In order to compare the parameter of WOMAC score and VAS pre- and post-operatively the Mann-Whitney Exact Test was used. The statistical significance was set at 0.05. RESULTS The preoperative VAS score ranged 5-9 (mean 7.6) and the postoperative VAS ranged 0-5 (mean 2.3). The WOMAC score ranged 56.3-69.7 (mean 64.2) preoperatively and 79.8-98.3 (mean 89.7) postoperatively. When both the evaluated parameters of VAS and WOMAC score were compared in time, a statistically significant improvement (ppain syndrome yields statistically significant improvement of clinical results with the concurrent minimum incidence of

  13. The natural history and clinical syndromes of degenerative cervical spondylosis.

    LENUS (Irish Health Repository)

    Kelly, John C

    2012-01-01

    Cervical spondylosis is a broad term which describes the age related chronic disc degeneration, which can also affect the cervical vertebrae, the facet and other joints and their associated soft tissue supports. Evidence of spondylitic change is frequently found in many asymptomatic adults. Radiculopathy is a result of intervertebral foramina narrowing. Narrowing of the spinal canal can result in spinal cord compression, ultimately resulting in cervical spondylosis myelopathy. This review article examines the current literature in relation to the cervical spondylosis and describes the three clinical syndromes of axial neck pain, cervical radiculopathy and cervical myelopathy.

  14. [Constitutional syndrome: clinical entity or a mixed bag].

    Science.gov (United States)

    Suárez-Ortega, Saturnino; Puente-Fernández, Alicia; Santana-Baez, Sergio; Godoy-Díaz, Davinia; Serrano-Fuentes, Miriam; Sanz-Peláez, Oscar

    2013-01-01

    Fatigue, anorexia and involuntary weight loss have been included under the term constitutional syndrome. These manifestations accompany many diseases in which the diagnosis is made by specific symptoms and signs. However, these events are generally the main reason for consultation and the patient does not report other specific data. This forces us to rigorously investigate the possible causes of the disorder. Usually, three manifestations coexist: asthenia, anorexia and weight loss, but sometimes the patient has only one or two of them. The causes of constitutional symptoms are varied and can be divided into three groups: psychiatric diseases, neoplasms and non-neoplastic diseases. The etiological identification is usually done with a simple protocol, which rules out malignancy; the rest of the cases of uncertain etiology are subject to evolution. The constitutional syndrome correlates well with good prognosis or medical functional processes. Although no clinical guidelines have been developed, score scales may help for the etiological assessment. Given the myriad of different causes of the constitutional syndrome, the treatment of this illness depends primarily on the etiology.

  15. Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline

    Science.gov (United States)

    Nieman, Lynnette K.; Biller, Beverly M. K.; Findling, James W.; Murad, M. Hassan; Newell-Price, John; Savage, Martin O.; Tabarin, Antoine

    2015-01-01

    Objective: The objective is to formulate clinical practice guidelines for treating Cushing's syndrome. Participants: Participants include an Endocrine Society-appointed Task Force of experts, a methodologist, and a medical writer. The European Society for Endocrinology co-sponsored the guideline. Evidence: The Task Force used the Grading of Recommendations, Assessment, Development, and Evaluation system to describe the strength of recommendations and the quality of evidence. The Task Force commissioned three systematic reviews and used the best available evidence from other published systematic reviews and individual studies. Consensus Process: The Task Force achieved consensus through one group meeting, several conference calls, and numerous e-mail communications. Committees and members of The Endocrine Society and the European Society of Endocrinology reviewed and commented on preliminary drafts of these guidelines. Conclusions: Treatment of Cushing's syndrome is essential to reduce mortality and associated comorbidities. Effective treatment includes the normalization of cortisol levels or action. It also includes the normalization of comorbidities via directly treating the cause of Cushing's syndrome and by adjunctive treatments (eg, antihypertensives). Surgical resection of the causal lesion(s) is generally the first-line approach. The choice of second-line treatments, including medication, bilateral adrenalectomy, and radiation therapy (for corticotrope tumors), must be individualized to each patient. PMID:26222757

  16. Network analysis reveals distinct clinical syndromes underlying acute mountain sickness.

    Directory of Open Access Journals (Sweden)

    David P Hall

    Full Text Available Acute mountain sickness (AMS is a common problem among visitors at high altitude, and may progress to life-threatening pulmonary and cerebral oedema in a minority of cases. International consensus defines AMS as a constellation of subjective, non-specific symptoms. Specifically, headache, sleep disturbance, fatigue and dizziness are given equal diagnostic weighting. Different pathophysiological mechanisms are now thought to underlie headache and sleep disturbance during acute exposure to high altitude. Hence, these symptoms may not belong together as a single syndrome. Using a novel visual analogue scale (VAS, we sought to undertake a systematic exploration of the symptomatology of AMS using an unbiased, data-driven approach originally designed for analysis of gene expression. Symptom scores were collected from 292 subjects during 1110 subject-days at altitudes between 3650 m and 5200 m on Apex expeditions to Bolivia and Kilimanjaro. Three distinct patterns of symptoms were consistently identified. Although fatigue is a ubiquitous finding, sleep disturbance and headache are each commonly reported without the other. The commonest pattern of symptoms was sleep disturbance and fatigue, with little or no headache. In subjects reporting severe headache, 40% did not report sleep disturbance. Sleep disturbance correlates poorly with other symptoms of AMS (Mean Spearman correlation 0.25. These results challenge the accepted paradigm that AMS is a single disease process and describe at least two distinct syndromes following acute ascent to high altitude. This approach to analysing symptom patterns has potential utility in other clinical syndromes.

  17. Hypertensive response to exercise: mechanisms and clinical implication

    OpenAIRE

    Kim, Darae; Ha, Jong-Won

    2016-01-01

    A hypertensive response to exercise (HRE) is frequently observed in individuals without hypertension or other cardiovascular disease. However, mechanisms and clinical implication of HRE is not fully elucidated. Endothelial dysfunction and increased stiffness of large artery contribute to development of HRE. From neurohormonal aspects, excess stimulation of sympathetic nervous system and augmented rise of angiotensin II seems to be important mechanism in HRE. Increasing evidences indicates tha...

  18. The dark side of the QT interval. The Short QT Syndrome: pathophysiology, clinical presentation and management

    Directory of Open Access Journals (Sweden)

    I. Comelli

    2012-12-01

    Full Text Available A large number of studies has been carried out to investigate the pathophysiology and the clinical implications of QT interval prolongation in the ECG over recent years (1, 2, 3, 4, 5, 6. It was only in the last decade, however, that the scientists have focused on the specular aspects of the long QT syndrome (LQTS, and it is now well established that the abnormal shortening of the QT interval is associated with meaningful clinical consequences and adverse outcomes. The aim of the present article is to summarize knowledge and existing evidence about the Short QT Syndrome (SQTS. SQTS is a rare, albeit largely underdiagnosed, genetically determined disease, which is characterized by a high tendency to develop life-threatening arrhythmias. The two clinical landmarks of SQTS are the presence of a short QT interval (i.e., less than 320 ms in a structurally normal heart. The disease is now classified as a “channellopathy”, and is principally caused by a defective functioning of both potassium and calcium ion channels. The underlying genetic anomalies cause an abnormal ripolarization and a reduced refractoriness of myocardiocites. Pharmacologic treatments are mainly tailored to slow the conduction and to prolong the refractory period of myocardiocites. The implantable cardioverter and defibrillator (ICD is currently considered the therapeutic gold standard (7.

  19. CLINICAL AND ENCEPHALOGRAPHIC CHANGES AT LENNOX–GASTAUT SYNDROME

    Directory of Open Access Journals (Sweden)

    K. Yu. Mukhin

    2015-01-01

    Full Text Available The Lennox–Gastaut syndrome (LGS is an epileptic encephalopathy, starting in childhood and showing in often polymorphic seizures (including tonic axial ones, severe cognitive deficite, slow activity of the acute–slow wave in the interictal period at the electroencephalography (EEG, runs of fast activity of 10–20 Hz, often associated with tonic seizures, as well as with the resistance to therapy. According ILAE Classification of epilepsy syndromes and epilepsies 1989 LGS was referred to generalized cryptogenic or symptomatic forms of the epilepsy. According to Proposed Diagnostic Scheme for People with Epileptic Seizures and with Epilepsy (2001 LGS is a classic representative of the group of childhood epileptic encephalopathies. LGS is a rather rare form of the epilepsy. The syndrome frequency makes from 1–4 to 6.6 % among all forms of the childhood epilepsy. LGS is subdivided into the cryptogenic and the symptomatic variants. From our point of view the latter it will be more correct to refer to the symptomatic focal epilepsy with the secondary bilateral synchrony phenomena at EEG. The LGS can be caused by cortical development defects, by perinatal encephalopathies, by brain tumors, by inherited metabolism diseases, by chromosomal anomalies, as well as by other factors. In case of the classic cryptogenic variant the ethiology of the LGS remains unknown. The disease onset is at the age of 2–8 y. o. In 20–40 % of cases LGS is transformed from the West syndrome. The LGS attribute is the polymorphism of seizures. The syndrome structure can combine tonic seizures, epileptic drop seizures, atypical absences, generalized tonic-clonic seizures. Focal seizures at LGS are a matter of argument. The article gives details on the clinical EEG criteria of LGS, the semiology of epileptic seizures in the syndrome structure, diagnostic and treatment approaches. The main accent is made on EEG peculiarities of the disease. The author presents the

  20. Multidrug efflux pumps in Staphylococcus aureus and their clinical implications.

    Science.gov (United States)

    Jang, Soojin

    2016-01-01

    Antibiotic resistance is rapidly spreading among bacteria such as Staphylococcus aureus, an opportunistic bacterial pathogen that causes a variety of diseases in humans. For the last two decades, bacterial multidrug efflux pumps have drawn attention due to their potential association with clinical multidrug resistance. Numerous researchers have demonstrated efflux-mediated resistance in vitro and in vivo and found novel multidrug transporters using advanced genomic information about bacteria. This article aims to provide a concise summary of multidrug efflux pumps and their important clinical implications, focusing on recent findings concerning S. aureus efflux pumps.

  1. Compartment syndrome after total knee arthroplasty: regarding a clinical case

    Directory of Open Access Journals (Sweden)

    Ana Alexandra da Costa Pinheiro

    2015-08-01

    Full Text Available ABSTRACT Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury.

  2. Ethical, legal, and social implications (ELSI) of microdose clinical trials.

    Science.gov (United States)

    Kurihara, Chieko

    2011-06-19

    A "microdose clinical trial" (microdosing) is one kind of early phase exploratory clinical trial, administering the compound at doses estimated to have no pharmacological or toxicological effects, aimed at screening candidates for further clinical development. This article's objective is to clarify the ethical, legal, and social implications (ELSI) of such an exploratory minimum-risk human trial. The definition and non-clinical study requirements for microdosing have been harmonized among the European Union (EU), United States (US), and Japan. Being conducted according to these regulations, microdosing seems to be ethically well justified in terms of respect for persons, beneficence, justice, human dignity, and animal welfare. Three big projects have been demonstrating the predictability of therapeutic dose pharmacokinetics from microdosing. The article offers suggestions as how microdosing can become a more useful and socially accepted strategy. Copyright © 2011 Elsevier B.V. All rights reserved.

  3. Miller-Fisher Syndrome: Are Anti-GAD Antibodies Implicated in Its Pathophysiology?

    Directory of Open Access Journals (Sweden)

    Ioannis E. Dagklis

    2016-01-01

    Full Text Available Miller-Fisher syndrome (MFS is considered as a variant of the Guillain-Barre syndrome (GBS and its characteristic clinical features are ophthalmoplegia, ataxia, and areflexia. Typically, it is associated with anti-GQ1b antibodies; however, a significant percentage (>10% of these patients are seronegative. Here, we report a 67-year-old female patient who presented with the typical clinical features of MFS. Workup revealed antibodies against glutamic acid decarboxylase (GAD in relatively high titers while GQ1b antibodies were negative. Neurological improvement was observed after intravenous gamma globulin and follow-up examinations showed a continuous clinical amelioration with simultaneous decline of anti-GAD levels which finally returned to normal values. This case indicates that anti-GAD antibodies may be associated with a broader clinical spectrum and future studies in GQ1b-seronegative patients could determine ultimately their clinical and pathogenetic significance in this syndrome.

  4. Single and multiple clinical syndromes in incarcerated offenders : Associations with dissociative experiences and emotionality.

    NARCIS (Netherlands)

    Garofalo, C.; Velotti, P.; Crocamo, Cristina; Carrá, Giuseppe

    2018-01-01

    The present study examined the prevalence and correlates of clinical syndromes in a large group (N = 438) of incarcerated violent offenders, looking at differences between inmates with one and those with more than one clinical syndromes. More than a half of the sample (57%) reported clinically

  5. Clinical and radiological manifestations of paraneoplastic syndrome of bronchogenic carcinoma

    Directory of Open Access Journals (Sweden)

    Goldner Branislav

    2005-01-01

    Full Text Available The objective of this study was to present some clinical and radiological manifestations of PNS in relation to bronchogenic carcinoma (BC and to evaluate the usefulness of imaging findings in the diagnosis of asymptomatic BC. In the study group of 204 patients (146 male and 58 female with proven bronchogenic carcinoma, PNS was present in 18 (8.62% patients. The patients with PNS were divided into two groups. The first one consisted of 13 (72.2% patients with symptoms related to primary tumours while the second one consisted of 5 (27.7% patients with symptoms, at initial appearance, indicative of disorders of other organs and systems. The predominant disorder was Lambert-Eaton Syndrome, associated with small-cell carcinoma. Endocrine manifestations included: inappropriate antidiuretic hormone production syndrome (small-cell carcinoma, a gonadotropin effect with gynaecomastia and testicular atrophy (planocellular carcinoma, small-cell carcinoma, a case of Cushing Syndrome (small-cell carcinoma, and hyper-calcaemia, due to the production of the parathyroid hormone-related peptide, which was associated with planocellular carcinoma. A rare case of bilateral exophthalmos was found as PNS at adenocarcinoma. Digital clubbing and hypertrophic osteoarthropathy (HO were associated with planocellular and adenocarcinoma, while clubbing was much more common than HO, especially among women. The differences between the two groups were related to the time of PNS appearance. In the first group, PNS occurred late on in the illness, while in the second group, PNS preceded the diagnosis of BC. Alternatively, the disappearance of a clinical or a radiological manifestation of PNS after surgery or chemotherapy may be an indicator of an improvement in health or PNS may be the first sign of illness recurrence. Radiological manifestations of PNS in asymptomatic patients may serve as a useful screen for identifying primary BC. In symptomatic patients, it may be an

  6. X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

    Science.gov (United States)

    Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick; Cotterill, Andrew; Shah, Nalini Samir; Metzger, Daniel; Castermans, Emilie; Ambrosio, Maria Rosaria; Villa, Chiara; Strebkova, Natalia; Mazerkina, Nadia; Gaillard, Stéphan; Barra, Gustavo Barcelos; Casulari, Luis Augusto; Neggers, Sebastian J; Salvatori, Roberto; Jaffrain-Rea, Marie-Lise; Zacharin, Margaret; Santamaria, Beatriz Lecumberri; Zacharieva, Sabina; Lim, Ee Mun; Mantovani, Giovanna; Zatelli, Maria Chaira; Collins, Michael T; Bonneville, Jean-François; Quezado, Martha; Chittiboina, Prashant; Oldfield, Edward H; Bours, Vincent; Liu, Pengfei; W de Herder, Wouter; Pellegata, Natalia; Lupski, James R; Daly, Adrian F; Stratakis, Constantine A

    2015-06-01

    X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and microduplication of chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in two families was dominant, with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2-3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight standard deviation scores (SDS) of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF1 and usually prolactin, due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection, but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high levels of expression of somatostatin receptor subtype-2 in tumor tissue. Postoperative use of adjuvant pegvisomant resulted in control of IGF1 in all five cases where it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management. © 2015 Society for Endocrinology.

  7. Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

    Directory of Open Access Journals (Sweden)

    Jill A Rosenfeld

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

  8. [The Ehlers-Danlos syndrome: hystory of a clinical hendiadys].

    Science.gov (United States)

    Brazzaventre, Cristina; Celletti, Claudia; Gobattoni, Paolo; Santilli, Valter; Camerota, Filippo

    2013-01-01

    Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility and tissue fragility, which results in easy bruising and abnormal scarring. The condition shows a phenotypic variance from milder to serious presentations. Complaints related to activity (hypermobility, dislocations, impaired balance), to pain (general pain, headache, jaw and tooth pain) and to skin (bruises, fragility, impaired wound healing) are frequent. It was first noted by Hippocrates in 400 BC in his writing 'Airs Water and Places' that the nomads Scythians had lax joints and multiple scars. Whereas the additional flexibility can give benefits in term of mobility and agility, adverse effects of tissue laxity and fragility can give rise to clinical consequences. We recognize that it is important that, in those hypermobility patients, who develop potentially debilitating symptoms of chronicfatigue or widespread pain, there should be prompt an appropriate intervention.

  9. Placebo effect in clinical trial design for irritable bowel syndrome.

    Science.gov (United States)

    Shah, Eric; Pimentel, Mark

    2014-04-30

    Ongoing efforts to improve clinical trial design in irritable bowel syndrome have been hindered by high placebo response rates and ineffective outcome measures. We assessed established strategies to minimize placebo effect as well as the various ap-proaches to placebo effect which can affect trial design. These include genetic markers such as catechol-O-methyltransferase, opioidergic and dopaminergic neurobiologic theory, pre-cebo effect centered on expectancy theory, and side effect unblinding grounded on conditioning theory. We reviewed endpoints used in the study of IBS over the past decade including adequate relief and subjective global relief, emphasizing their weaknesses in fully evaluating the IBS condition, specifically their motility effects based on functional net value and relative benefit-harm based on dropouts due to adverse events. The focus of this review is to highlight ongoing efforts to improve clinical trial design which can lead to better outcomes in a real-world setting.

  10. Middle East respiratory syndrome clinical practice guideline for hemodialysis facilities

    Directory of Open Access Journals (Sweden)

    Hayne Cho Park

    2017-06-01

    Full Text Available The Korean Society of Nephrology participated in the task force team consisting of government authorities and civilian experts to prevent and control the spread of Middle East respiratory syndrome (MERS in 2015. The Korean Society of Nephrology MERS Task Force Team took an immediate action and drafted ‘the clinical recommendation for hemodialysis facilities’ to follow when the first and the only confirmed case was reported in the hemodialysis unit. Owing to the dedicated support from medical doctors, dialysis nurses, and related medical companies, we could prevent further transmission of MERS infection successfully in hemodialysis units. This special report describes the experience of infection control during MERS outbreak in 2015 and summarizes the contents of ‘the clinical practice guideline for hemodialysis facilities dealing with MERS patients’ built upon our previous experience.

  11. Clinical Study on Five Cases of Carpal tunnel syndrome

    Directory of Open Access Journals (Sweden)

    Kim Il Hwan

    2001-12-01

    Full Text Available Objections : The purpose of the study was to evaluate the effectiveness of treating the carpal tunnel syndrome by using both the Herbal Acupuncture and herbal medicine therapy on five cases. Methods : For the Herbal Acupuncture, Jungseonguhhyl No. 1 and Hwanglyunhaedoktang were used. For the herbal medicine, Dangguihwalhyul-tang was used. The patients were treated once in every two days; the result was evaluated after ten treatments. Patients' conditions were monitored through their testimony, phalen's test, nerve conduction study and electromyography. Results : In all five cases, the patients showed improvement; in four cases, the patients no longer had most of the clinical symptoms. Based on the result of the nerve conduction study, for the four cases in which the patients no longer displayed most of the clinical symptoms, their nerve conduction rate improved; for the remaining one case, the patient's nerve conduction rate deteriorated. Conclusions : The results of this study demonstrate that combining the Herbal Acupuncture and herbal medicine therapy can have noticeable effects in treating the carpal tunnel syndrome; developing more variety of the herbal acupuncture would lead to even better treatment results.

  12. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.

    Science.gov (United States)

    Farrer, L A; Arnos, K S; Asher, J H; Baldwin, C T; Diehl, S R; Friedman, T B; Greenberg, J; Grundfast, K M; Hoth, C; Lalwani, A K

    1994-10-01

    Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We have typed microsatellite markers within and flanking PAX3 in 41 WS1 kindreds and 26 WS2 kindreds in order to estimate the proportion of families with probable mutations in PAX3 and to study the relationship between phenotypic and genotypic heterogeneity. Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families. None of the WS2 families were linked. In those families in which equivocal lod scores (between -2 and +1) were found, PAX3 mutations have been identified in 5 of the 15 WS1 families but in none of the 4 WS2 families. Although preliminary studies do not suggest any association between the phenotype and the molecular pathology in 20 families with known PAX3 mutations and in four patients with chromosomal abnormalities in the vicinity of PAX3, the presence of dystopia in multiple family members is a reliable indicator for identifying families likely to have a defect in PAX3.

  13. Clinical characteristics of polycystic ovary syndrome in Indian women

    Directory of Open Access Journals (Sweden)

    Sunita J Ramanand

    2013-01-01

    Full Text Available Background: Polycystic ovary syndrome (PCOS is common diagnosis in women presenting with infertility. All the dimensions of PCOS have not been completely explored. Many studies have tried to characterize the exact presentation of the disease. In this study we studied clinical features of PCOS in Indian women to characterize different phenotypes of this syndrome. Prevalence of acanthosis nigricans (AN as surrogate marker of insulin resistance, obesity, hirsutism and hypothyroidism in PCOS women have been simultaneously studied. Materials and Methods: Present work is a non comparative cross-sectional open label study carried out over a period of 18 months in an endocrinology hospital in western Maharashtra, India. Results and Conclusion: Authors conclude that PCOS occurs both in obese and non-obese women; AN and hirsutism occur in equal proportion of patients. AN is correlated with obesity. Hormonal dysfunctions in PCOS manifested together or independently. PCOS women can be sub grouped based on clinical features suggestive of endocrinological malfunctions and can be investigated accordingly for selection of appropriate treatment modalities.

  14. Ethical implications for clinical practice and future research in "at risk" individuals.

    Science.gov (United States)

    Singh, Fiza; Mirzakhanian, Heline; Fusar-Poli, Paolo; de la Fuente-Sandoval, Camilo; Cadenhead, Kristin S

    2012-01-01

    The last 15 years have witnessed a shift in schizophrenia research with increasing interest in earlier stages of illness with the hope of early intervention and ultimately prevention of psychotic illness. Large-scale longitudinal studies have identified clinical and biological risk factors associated with increased risk of psychotic conversion, which together with symptomatic and demographic risk factors may improve the power of prediction algorithms for psychotic transition. Despite these advances, 45-70% of at risk subjects in most samples do not convert to frank psychosis, but continue to function well below their age matched counterparts. The issue is of utmost importance in light of the upcoming DSM-V and the possible inclusion of the attenuated psychotic symptoms syndrome (APSS) diagnosis, with clinical and ethical implications. Clinical considerations include feasibility of reliably diagnosing the at risk state in non-academic medical centers, variable psychotic conversion rates, a non-uniform definition of conversion and extensive debate about treatment for individuals with an ill-defined outcome. On the ethical side, diagnosing APSS could lead to unnecessary prescribing of antipsychotics with long-term deleterious consequences, slow research by providing a false sense of comfort in the diagnosis, and have psychosocial implications for those who receive a diagnosis. Thus it may be prudent to engage at risk populations early and to use broad-spectrum treatments with low risk benefit ratios to relieve functional impairments, while simultaneously studying all subsets of the at risk population.

  15. Pisa Syndrome in Parkinson’s Disease: Electromyographic Aspects and Implications for Rehabilitation

    Directory of Open Access Journals (Sweden)

    Giuseppe Frazzitta

    2015-01-01

    Full Text Available Pisa Syndrome (PS is a real clinical enigma, and its management remains a challenge. In order to improve the knowledge about resting state and during maximal voluntary muscle contraction (MVMC of the axial muscles, we described the electromyography results of paraspinal muscles, rectus abdominis, external oblique, and quadratus lumborum of both sides of 60 patients. Electromyography was assessed at rest, during MVMC while bending in the opposite direction of the PS and during MVMC while bending in the direction of the PS. The MVMC gave information about the interferential pattern (INT or subinterferential pattern (sub-INT. We defined asymmetrical activation (AA when a sub-INT was detected on the muscle on the side opposite to the PS bending and an INT of same muscle in the direction of PS bending. We observed significant AA during MVMC only in the external oblique muscles in 78% of the subjects. Our results of asymmetric ability to generate maximal voluntary force of the external oblique muscles support a central dissynchronisation of axial muscles as a significant contributor for the bending of the spine in erect position. These results could have important implication to physiotherapy and the use of botulinum toxin in the treatment of PS.

  16. Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

    Science.gov (United States)

    Bieth, Eric; Eddiry, Sanaa; Gaston, Véronique; Lorenzini, Françoise; Buffet, Alexandre; Conte Auriol, Françoise; Molinas, Catherine; Cailley, Dorothée; Rooryck, Caroline; Arveiler, Benoit; Cavaillé, Jérome; Salles, Jean Pierre; Tauber, Maïthé

    2015-01-01

    The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader–Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the expression of flanking genes, have been described. We report a 23-year-old woman who presented clinical criteria of PWS, including the behavioural and nutritional features, obesity, developmental delay and endocrine dysfunctions with hyperghrelinemia. We found a paternally transmitted highly restricted deletion of the SNORD116 gene cluster, the shortest described to date (118 kb). This deletion was also present in the father. This finding in a human case strongly supports the current hypothesis that lack of the paternal SNORD116 gene cluster has a determinant role in the pathogenesis of PWS. Moreover, targeted analysis of the SNORD116 gene cluster, complementary to SNRPN methylation analysis, should be carried out in subjects with a phenotype suggestive of PWS. PMID:24916642

  17. Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.

    Science.gov (United States)

    Bieth, Eric; Eddiry, Sanaa; Gaston, Véronique; Lorenzini, Françoise; Buffet, Alexandre; Conte Auriol, Françoise; Molinas, Catherine; Cailley, Dorothée; Rooryck, Caroline; Arveiler, Benoit; Cavaillé, Jérome; Salles, Jean Pierre; Tauber, Maïthé

    2015-02-01

    The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader-Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the expression of flanking genes, have been described. We report a 23-year-old woman who presented clinical criteria of PWS, including the behavioural and nutritional features, obesity, developmental delay and endocrine dysfunctions with hyperghrelinemia. We found a paternally transmitted highly restricted deletion of the SNORD116 gene cluster, the shortest described to date (118 kb). This deletion was also present in the father. This finding in a human case strongly supports the current hypothesis that lack of the paternal SNORD116 gene cluster has a determinant role in the pathogenesis of PWS. Moreover, targeted analysis of the SNORD116 gene cluster, complementary to SNRPN methylation analysis, should be carried out in subjects with a phenotype suggestive of PWS.

  18. Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.

    Science.gov (United States)

    Matsunoshita, Natsuki; Nozu, Kandai; Shono, Akemi; Nozu, Yoshimi; Fu, Xue Jun; Morisada, Naoya; Kamiyoshi, Naohiro; Ohtsubo, Hiromi; Ninchoji, Takeshi; Minamikawa, Shogo; Yamamura, Tomohiko; Nakanishi, Koichi; Yoshikawa, Norishige; Shima, Yuko; Kaito, Hiroshi; Iijima, Kazumoto

    2016-02-01

    Phenotypic overlap exists among type III Bartter syndrome (BS), Gitelman syndrome (GS), and pseudo-BS/GS (p-BS/GS), which are clinically difficult to distinguish. We aimed to clarify the differences between these diseases, allowing accurate diagnosis based on their clinical features. A total of 163 patients with genetically defined type III BS (n = 30), GS (n = 90), and p-BS/GS (n = 43) were included. Age at diagnosis, sex, body mass index, estimated glomerular filtration rate, and serum and urine electrolyte concentrations were determined. Patients with p-BS/GS were significantly older at diagnosis than those with type III BS and GS. Patients with p-BS/GS included a significantly higher percentage of women and had a lower body mass index and estimated glomerular filtration rate than did patients with GS. Although hypomagnesemia and hypocalciuria were predominant biochemical findings in patients with GS, 17 and 23% of patients with type III BS and p-BS/GS, respectively, also showed these abnormalities. Of patients with type III BS, GS, and p-BS/GS, 40, 12, and 63%, respectively, presented with chronic kidney disease. This study clarified the clinical differences between BS, GS, and p-BS/GS for the first time, which will help clinicians establish differential diagnoses for these three conditions.

  19. Horizontal fissure on neonatal plain chest radiographs: clinical implications

    International Nuclear Information System (INIS)

    Konarzewska, J.; Zawadzka-Kepczynska, A.; Bianek-Bodzak, A.; Kawinska-Kilianczyk, A.; Domzalska-Popadiuk, I.

    2005-01-01

    Regardless of etiology, pleural fluid, even in small amounts, can be visualized on the neonatal chest x-ray picture within pulmonary fissures. It remains unclear whether a marked horizontal fissure unaccompanied by any other radiological symptoms is of diagnostic value or not. Ninety-one consecutive neonatal chest radiographs with marked horizontal fissure were retrospectively analyzed. The images were made between 1999 and 2005 on 69 newborns admitted to the Neonatology Department, Institute of Obstetrics and Gynecology, Medical University of Gdansk. Analysis of the radiographs was conducted independently by three radiologists based on the following criteria: fissure thickness (marked or thickened), bronchovascular markings (increased or normal), size and shape of the heart (normal or abnormal), presence or absence of pulmonary infiltration, atelectasis, and changes related to wet lung syndrome. Due to divergent interpretations, the ultimate interpretation was established by consensus in 25 cases. The radiological findings were compared with clinical data. The compatibility of the three independent interpreters was statistically significant (p<0.0001). Marked transverse fissure was the only radiological finding on 66 x-rays. In 63 cases (69.2%) the children were asymptomatic as well. In 3 cases (3.3%) clinical symptoms of respiratory tract infection occurred. On the other 25 images, horizontal fissure was accompanied by other radiological symptoms. Chest x-ray results corresponded with clinical symptoms in 24 cases (26.4%). One child (1.1%) with radiological evidence of wet lung syndrome did not present any typical clinical symptoms of it. Horizontal fissure noted on a neonatal chest x-ray seems to be of minor diagnostic value if not accompanied by any other radiological symptoms. (author)

  20. Moyamoya disease and syndromes: from genetics to clinical management

    Directory of Open Access Journals (Sweden)

    Guey S

    2015-02-01

    Full Text Available Stéphanie Guey,1,3 Elisabeth Tournier-Lasserve,1,2 Dominique Hervé,1,3 Manoelle Kossorotoff4 1Inserm UMR-S1161, Université Paris 7 Denis Diderot, Sorbonne Paris Cité, Paris, France; 2AP-HP, Groupe hospitalier Lariboisière-Saint-Louis, Service de génétique neurovasculaire, Paris, France; 3Service de Neurologie, Centre de Référence des maladies Vasculaires Rares du Cerveau et de l'Œil (CERVCO, Groupe Hospitalier Saint-Louis Lariboisière-Fernand Widal, Assistance Publique-Hôpitaux de Paris, Paris, France; 4Pediatric Neurology Department, French Center for Pediatric Stroke, University Hospital Necker-Enfants Malades, AP-HP Assistance publique-Hôpitaux de Paris, Paris, France Abstract: Moyamoya angiopathy is characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of a network of abnormal collateral vessels. This chronic cerebral angiopathy is observed in children and adults. It mainly leads to brain ischemic events in children, and to ischemic and hemorrhagic events in adults. This is a rare condition, with a marked prevalence gradient between Asian countries and Western countries. Two main nosological entities are identified. On the one hand, moyamoya disease corresponds to isolated moyamoya angiopathy, defined as being “idiopathic” according to the Guidelines of the Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis. This entity is probably multifactorial and polygenic in most patients. On the other hand, moyamoya syndrome is a moyamoya angiopathy associated with an underlying condition and forms a very heterogeneous group with various clinical presentations, various modes of inheritance, and a variable penetrance of the cerebrovascular phenotype. Diagnostic and evaluation techniques rely on magnetic resonance imaging (MRI, magnetic resonance angiography (MRA conventional angiography, and cerebral hemodynamics measurements

  1. The primary vascular dysregulation syndrome: implications for eye diseases

    Science.gov (United States)

    2013-01-01

    Vascular dysregulation refers to the regulation of blood flow that is not adapted to the needs of the respective tissue. We distinguish primary vascular dysregulation (PVD, formerly called vasospastic syndrome) and secondary vascular dysregulation (SVD). Subjects with PVD tend to have cold extremities, low blood pressure, reduced feeling of thirst, altered drug sensitivity, increased pain sensitivity, prolonged sleep onset time, altered gene expression in the lymphocytes, signs of oxidative stress, slightly increased endothelin-1 plasma level, low body mass index and often diffuse and fluctuating visual field defects. Coldness, emotional or mechanical stress and starving can provoke symptoms. Virtually all organs, particularly the eye, can be involved. In subjects with PVD, retinal vessels are stiffer and more irregular, and both neurovascular coupling and autoregulation capacity are reduced while retinal venous pressure is often increased. Subjects with PVD have increased risk for normal-tension glaucoma, optic nerve compartment syndrome, central serous choroidopathy, Susac syndrome, retinal artery and vein occlusions and anterior ischaemic neuropathy without atherosclerosis. Further characteristics are their weaker blood–brain and blood-retinal barriers and the higher prevalence of optic disc haemorrhages and activated astrocytes. Subjects with PVD tend to suffer more often from tinnitus, muscle cramps, migraine with aura and silent myocardial ischaemic and are at greater risk for altitude sickness. While the main cause of vascular dysregulation is vascular endotheliopathy, dysfunction of the autonomic nervous system is also involved. In contrast, SVD occurs in the context of other diseases such as multiple sclerosis, retrobulbar neuritis, rheumatoid arthritis, fibromyalgia and giant cell arteritis. Taking into consideration the high prevalence of PVD in the population and potentially linked pathologies, in the current article, the authors provide

  2. Clinical-epidemiological profile of oral allergy syndrome in the population aged 6 to 18 years

    Directory of Open Access Journals (Sweden)

    Amyra Ali Azamar-Jácome

    2017-06-01

    Full Text Available Background: Oral allergy syndrome (OAS or pollen-fruit syndrome is a type of food allergy. Its characteristics and associated allergens vary according to the studied population. There are few studies in Mexico about this topic, none in children. Objective: To describe clinical and epidemiological characteristics of OAS among children in Mexico. Methods: A descriptive, observational, transversal and prospective study was conducted. We included every patient from 6 to 18 years old with diagnostic suspicion of OAS, in which complete clinical history, skin test to food and pollens, and oral food challenge were performed. Results: We found a prevalence of 5.3% (29 patients: 55% were males. Average age was 10 ± 3 years, and average number of food implicated were 6.8 ± 4.1. Apple, peach and banana, were the most frequent food associated, and sensitization to oak and European privet, the more prevalent pollens found in OAS. Conclusion: OAS is a common type of food allergy, transient and mild in nature. In more than 90% of the cases is associated with allergic rhinitis and sensitization to pollens. In our population, profilins may be involved in its pathogenesis. However, more studies are required to prove this.

  3. Clinical characteristics of a novel subgroup of chronic fatigue syndrome patients with postural orthostatic tachycardia syndrome.

    Science.gov (United States)

    Lewis, I; Pairman, J; Spickett, G; Newton, J L

    2013-05-01

    A significant proportion of patients with chronic fatigue syndrome (CFS) also have postural orthostatic tachycardia syndrome (POTS). We aimed to characterize these patients and differentiate them from CFS patients without POTS in terms of clinical and autonomic features. A total of 179 patients with CFS (1994 Centers for Disease Control and Prevention criteria) attending one of the largest Department of Health-funded CFS clinical services were included in this study. Outcome measures were as follows: (i) symptom assessment tools including the fatigue impact scale, Chalder fatigue scale, Epworth sleepiness scale (ESS), orthostatic grading scale (OGS) and hospital anxiety and depression scale (HADS-A and -D, respectively), (ii) autonomic function analysis including heart rate variability and (iii) haemodynamic responses including left ventricular ejection time and systolic blood pressure drop upon standing. CFS patients with POTS (13%, n = 24) were younger (29 ± 12 vs. 42 ± 13 years, P fatigued (Chalder fatigue scale, 8 ± 4 vs. 10 ± 2, P = 0.002), less depressed (HADS-D, 6 ± 4 vs. 9 ± 4, P = 0.01) and had reduced daytime hypersomnolence (ESS, 7 ± 6 vs. 10 ± 5, P = 0.02), compared with patients without POTS. In addition, they exhibited greater orthostatic intolerance (OGS, 11 ± 5; P < 0.0001) and autonomic dysfunction. A combined clinical assessment tool of ESS ≤9 and OGS ≥9 identifies accurately CFS patients with POTS with 100% positive and negative predictive values. The presence of POTS marks a distinct clinical group of CFS patents, with phenotypic features differentiating them from those without POTS. A combination of validated clinical assessment tools can determine which CFS patients have POTS with a high degree of accuracy, and thus potentially identify those who require further investigation and consideration for therapy to control heart rate. © 2013 The Association for the Publication of the Journal of Internal Medicine.

  4. Bartter's and Gitelman's syndromes: from gene to clinic

    OpenAIRE

    Naesens, Maarten; STEELS, Paul; Verberckmoes, René; Vanrenterghem, Yves; Kuypers, Dirk

    2004-01-01

    Bartter's and Gitelman's syndromes are characterized by hypokalemia, normal to low blood pressure and hypochloremic metabolic alkalosis. Recently, investigators have been able to demonstrate mutations of six genes encoding several renal tubular transporters and ion channels that can be held responsible for Bartter's and Gitelman's syndromes. Neonatal Bartter's syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter's syndrome by mutations of ClC-Kb, Bartter's syndrome associated wit...

  5. Solitary rectal ulcer syndrome: demographic, clinical, endoscopic and histological panorama

    International Nuclear Information System (INIS)

    Abbasi, A.; Bhutto, K. A.R.; Baloch, A.

    2015-01-01

    To assess the demographic, clinical, endoscopic and histological spectrum of Solitary Rectal Ulcer Syndrome (SRUS). Study Design: Cross-sectional observational study. Place and Duration of Study: Medical Unit-III, Civil Hospital Karachi (CHK) and Ward 7, Jinnah Postgraduate Medical Centre (JPMC), Karachi, from January 2009 to June 2012. Methodology: Patients with SRUS, based on characteristic endoscopic and histological findings, were enrolled. Patients were excluded if they had other causes of the rectal lesions (neoplasm, infection, inflammatory bowel disease, and trauma). Endoscopically, lesions were divided on the basis of number (solitary or multiple) and appearance (ulcerative, polypoidal/nodular or erythematous mucosa). Demographic, clinical and endoscopic characteristics of subjects were evaluated. Results: Forty-four patients met the inclusion criteria; 21 (47.7%) were females and 23 (52.3%) were males with overall mean age of 33.73 ±13.28 years. Symptom-wise 41 (93.2%) had bleeding per rectum, 39 (88.6%) had mucous discharge, 34 (77.3%) had straining, 34 (77.3%) had constipation, 32 (72.7%) had tenesmus, 5 (11.4%) had rectal prolapse and 2 (4.5%) had fecal incontinence. Twelve (27.27%) patients presented with hemoglobin less 10 gm/dl, 27 (61.36%) with 10 - 12 gm/dl and 05 (11.36%) subjects had hemoglobin more than 12 gm/dl. Endoscopically, 26 (59.1%) patients had mucosal ulceration, 11 (25.0%) had mucosal ulceration with polypoid characteristics; while only polypoid features were found in 7 (15.9%) subjects. Conclusion: Solitary rectal ulcer syndrome affects adults of both genders with diverse clinical presentation and nonspecific endoscopic features. (author)

  6. The clinical syndrome of specific antibody deficiency in children.

    Science.gov (United States)

    Boyle, R J; Le, C; Balloch, A; Tang, M L-K

    2006-12-01

    Specific antibody deficiency (SAD) is an immune deficiency which has been reported in adults and children with recurrent respiratory tract infections; however, the clinical features of SAD are not well described. This study evaluated formally the clinical syndrome of SAD, by comparing the clinical features of children with SAD and those of children with recurrent infection but normal immune function tests. SAD was defined as an adequate IgG antibody response to less than 50% of 12 pneumococcal serotypes tested following 23-valent unconjugated pneumococcal immunization. An adequate IgG antibody response was defined as a post-immunization titre of >or= 1.3 microg/ml or >or= four times the preimmunization value. Seventy-four children with recurrent infection were evaluated where immune deficiencies other than SAD had been excluded. Eleven (14.9%) of these children had SAD. Clinical features differed between the group with SAD and the group with normal antibody responses. A history of otitis media, particularly in association with chronic otorrhoea was associated with SAD [relative risk (RR) of SAD in those with chronic otorrhoea 4.64 (P = 0.02)]. SAD was associated with allergic disease, particularly allergic rhinitis [RR of SAD in those with allergic rhinitis 3.77 (P = 0.04)]. These two clinical associations of SAD were independent in this study [RR of chronic otorrhoea in those with allergic rhinitis 0.85 (P = 0.28)]. SAD was not an age-related phenomenon in this population. SAD has a distinct clinical phenotype, presenting as recurrent infection associated with chronic otorrhoea and/or allergic disease, and the condition should be sought in children with these features.

  7. Revisiting ovarian hyper stimulation syndrome: Towards OHSS free clinic

    Directory of Open Access Journals (Sweden)

    Manish Banker

    2015-01-01

    Full Text Available A rapid development and application of assisted reproductive technologies (ARTs and ovulation-induction drugs may lead to ovarian hyper stimulation syndrome (OHSS. Young age, low body mass index (BMI, polycystic ovarian syndrome (PCOS, previous OHSS, high follicle count, and elevated serum estradiol (E2 are the certain factors that predispose women to OHSS. Many strategies have been used to reduce or avoid OHSS. Use of human chorionic gonadotropin (hCG increases ovarian vascular permeability and is responsible for activating the vascular endothelial growth factors (VEGF pathway and thus the entire cascade, leading to symptomatic OHSS. Gonadotropin-releasing hormone (GnRH agonists are used as a replacement for hCG for final oocyte maturation in antagonist cycles. Reducing or eliminating the use of hCG and use of GnRH agonist triggered GnRH antagonist cycles and cryopreservation of oocytes or embryos is the most promising approach in making OHSS free clinic a reality.

  8. Gabapentin enacarbil – clinical efficacy in restless legs syndrome

    Directory of Open Access Journals (Sweden)

    Pinky Agarwal

    2010-04-01

    Full Text Available Pinky Agarwal1, Alida Griffith1, Henry R Costantino2, Narendra Vaish31Booth Gardner Parkinson’s Center, Kirkland, WA, USA; 2Costantino Consulting, Woodinville, WA, USA; 3Kirkland, WA, USAAbstract: Restless legs syndrome (RLS is a sleep-related movement disorder commonly involving an unpleasant urge to move the limbs, typically the legs. Dopaminergic agents represent the first-line therapy for RLS; however, long-term use of such drugs results in worsening symptoms due to “augmentation” or other adverse events. Gabapentin, an analog of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA, is an anticonvulsant/analgesic agent. Gabapentin is only mildly effective in relieving RLS symptoms, perhaps a result of its poor absorption from the gastrointestinal (GI tract. Gabapentin enacarbil is a prodrug of gabapentin specifically designed to enhance absorption via the GI tract, and hence provide improved circulating levels of gabapentin on metabolism. Clinical trials to date have demonstrated favorable safety and (compared to traditional gabapentin improved pharmacokinetics and efficacy in treating RLS symptoms. Thus, gabapentin enacarbil may prove to be a useful drug in treating RLS. An application of gabapentin enacarbil for treatment of RLS is currently pending with FDA for approval.Keywords: restless legs syndrome, gabapentin enacarbil, movement disorder

  9. Clinical utility of metabolic syndrome severity scores: considerations for practitioners

    Directory of Open Access Journals (Sweden)

    DeBoer MD

    2017-02-01

    Full Text Available Mark D DeBoer,1,2 Matthew J Gurka2 11Division of Pediatric Endocrinology, Department of Pediatrics, University of Virginia School of Medicine, Charlottesville, VA, 2Department of Health Outcomes and Policy, College of Medicine, University of Florida, Gainesville, FL, USA Abstract: The metabolic syndrome (MetS is marked by abnormalities in central obesity, high blood pressure, high triglycerides, low high-density lipoprotein-cholesterol, and high fasting glucose and appears to be produced by underlying processes of inflammation, oxidative stress, and adipocyte dysfunction. MetS has traditionally been classified based on dichotomous criteria that deny that MetS-related risk likely exists as a spectrum. Continuous MetS scores provide a way to track MetS-related risk over time. We generated MetS severity scores that are sex- and race/ethnicity-specific, acknowledging that the way MetS is manifested may be different by sex and racial/ethnic subgroup. These scores are correlated with long-term risk for type 2 diabetes mellitus and cardiovascular disease. Clinical use of scores like these provide a potential opportunity to identify patients at highest risk, motivate patients toward lifestyle change, and follow treatment progress over time. Keywords: metabolic syndrome, insulin resistance, cardiovascular disease, type 2 diabetes, risk prediction

  10. PSEUDO-LENNOX SYNDROME: CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS

    Directory of Open Access Journals (Sweden)

    K. Yu. Mukhin

    2016-01-01

    Full Text Available Pseudo-Lennox syndrome (PLS, or atypical benign partial epilepsy of childhood, is a disease from a group of age-related epileptic encephalopathies with a phenomenon of continuous spike-wave activity during slow sleep, which manifests itself as frequent polymorphic focal motor and pseudogeneralized seizures, cognitive impairments, as well as regional and diffuse epileptiform activity on electroencephalogram (EEG by the morphology identical to that of benign epileptiform patterns of childhood. The disease was first described by J. Aicardi and J. J. Chevrie in 1982, based on a study of 7 cases. Its diagnostic complexity is the polymorphism of both epileptic seizures and EEG data, as well as low awareness of the syndrome among physicians and its absence in the international classification of epilepsies. The typical triad of seizures, which occurs in nearly 100 % of patients, encompasses focal motor paroxysms (identical to those as observed in Rolandic epilepsy, atypical absences, and atonic seizures. Seizures in PLS in its active period (generally up to 7–8 years are highly resistant to antiepileptic drugs. Only a few agents have been proven to be effective in PLS; these include valproates, succinimides, benzodiazepines, topiramate, and sulthiame. The frequency of seizures are noted to increase in patients with PLS treated with drugs, such as vigabatrin, gabapentin, lamotrigine, phenobarbital, or phenytoin. The author considers in detail the history of studies of the disease, clinical manifestations, diagnostic criteria, therapeutic approaches, and prognosis.

  11. Usher syndrome in Denmark: mutation spectrum and some clinical observations.

    Science.gov (United States)

    Dad, Shzeena; Rendtorff, Nanna Dahl; Tranebjærg, Lisbeth; Grønskov, Karen; Karstensen, Helena Gásdal; Brox, Vigdis; Nilssen, Øivind; Roux, Anne-Françoise; Rosenberg, Thomas; Jensen, Hanne; Møller, Lisbeth Birk

    2016-09-01

    Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods. Before Next Generation Sequencing (NGS) became available mutations in nine individuals (1 USH1, 7 USH2, 1 USH3) were identified by Sanger sequencing of USH1C , USH2A or CLRN1 or by Arrayed Primer EXtension (APEX) method. Mutations in 12 individuals (7 USH1, 5 USH2) were found by targeted NGS of ten known USH genes. Five novel pathogenic variants were identified. We combined our data with previously published, and obtained an overview of the USH mutation spectrum in Denmark, including 100 unrelated individuals; 32 with USH1, 67 with USH2, and 1 with USH3. Macular edema was observed in 44 of 117 individuals. Olfactory function was tested in 12 individuals and found to be within normal range in all. Mutations that lead to USH1 were predominantly identified in MYO7A (75%), whereas all mutations in USH2 cases were identified in USH2A . The MYO7A mutation c.93C>A, p.(Cys31*) accounted for 33% of all USH1 mutations and the USH2A c.2299delG, p.(Glu767Serfs*21) variant accounted for 45% of all USH2 mutations in the Danish cohort.

  12. Psychiatric implications of obstructive sleep apnea-hypopnea syndrome (OSAHS

    Directory of Open Access Journals (Sweden)

    Franklin Escobar-Córdoba

    2017-08-01

    Full Text Available Sleep apnea is a syndrome that affects multiple systems and produces varied symptoms. This article reviews the most frequent psychiatric illnesses associated with this condition, as well as the need for an adequate diagnosis and an interdisciplinary treatment. The most common entity observed in patients with sleep apnea is depression, probably caused by sleep fragmentation, which alters the production of neurotransmitters in the brain. Anxiety is the second most common entity, perhaps, due to the release of catecholamines at night. Other symptoms associated with sleep apnea can be found, and should be reviewed and improved with appropriate treatment; addressing such symptoms could also improve the quality of life of patients, since attention, concentration and memory would increase or decrease irritability and other symptoms.

  13. Colorectal adenomatous polyposis syndromes: Genetic determinism, clinical presentation and recommendations for care.

    Science.gov (United States)

    Buecher, Bruno

    2016-02-01

    Colorectal adenomatous polyposis constitutes a diverse group of disorders with different modes of inheritance. Molecular diagnosis of this condition has become more complex. In fact, somatic mosaicism for APC mutations now appears to be more frequent than previously thought and rare germline alterations of this gene may be implicated in patients tested negative for "classical" APC mutations (point mutations and large genomic rearrangements). Moreover, the knowledge concerning several aspects of the MUTYH-associated polyposis has improved since its first description in 2002 and germline mutations in new genes have recently been implicated in some cases of unexplained adenomatous polyposis. Genetic testing in probands and their relatives should be conducted in the context of pre- and post-test genetic counseling. The recent advent of New Generation Sequencing (NGS) techniques affords the opportunity to rapidly screen patients for a comprehensive panel of colorectal cancer susceptibility genes in a cost-effective fashion. This type of approach will probably replace the classical sequential approach based on clinical presumptive diagnoses in the near future. The risk of colorectal cancer is very high in affected patients in the absence of appropriate care. Clinical management is complex and should be provided in centers with special expertise in these diseases. This review focuses on the various colorectal adenomatous polyposis syndromes with special attention to more innovative and important aspects. Copyright © 2015 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.

  14. MRI criteria for MS in patients with clinically isolated syndromes

    DEFF Research Database (Denmark)

    Montalban, X.; Tintore, M.; Swanton, J.

    2010-01-01

    neurologists and neuroradiologists. In some circumstances, several MRI examinations are needed to achieve an accurate and prompt diagnosis. This provides an incentive for continued efforts to refine the incorporation of MRI-derived information into the diagnostic workup of patients presenting with a clinically...... isolated syndrome. Within the European multicenter collaborative research network that studies MRI in MS (MAGNIMS), a workshop was held in London in November 2007 to review information that may simplify the existing MS diagnostic criteria, while maintaining a high specificity that is essential to minimize...... false positive diagnoses. New data that are now published were reviewed and discussed and together with a new proposal are integrated in this position paper. Neurology(R) 2010;74:427-434...

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

    Directory of Open Access Journals (Sweden)

    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.

  16. Long QT Syndrome: A Clinical Entity Resembling Epilepsy

    Directory of Open Access Journals (Sweden)

    Mehmet Güney Şenol

    2008-06-01

    Full Text Available Scientific BACKGROUND: Long QT Syndrome (LQTS is a cardiac repolarization defect, characterized by lengthened QT interval in the ECG. It can cause syncope due to rapid, polimorphic ventricular tachycardia known as Torsades de Pointes (TdP or it may cause sudden cardiac death. This clinical entity is frequently mistaken for epilepsy. CASE: In this report, a 24-year old male patient with congenital LQTS is presented. The patient was originally followed-up for epilepsy. During the evaluation process his loss of consciousness attacks were linked with ventricular tachycardia -TdP- periods and thus a diagnosis of LQTS was reached. When cardiac arrest ocurred in this patient, "stellate ganglion blockage” was performed. CONCLUSION: One must bear LQTS in mind in all patients with suspicious-looking syncope attacks and it must not be forgotten that early diagnosis and timely therapy will save the life of the individual

  17. Clinical symptoms of sleep apnea syndrome and automobile accidents

    DEFF Research Database (Denmark)

    Haraldsson, P O; Carenfelt, C; Diderichsen, Finn

    1990-01-01

    Patients with clinical features of sleep apnea syndrome (SAS) and self-reported sleep spells at the wheel do poorly in simulated monotonous driving. To evaluate whether drivers with defined symptoms of SAS (heavy snoring, sleep disturbances and daytime sleepiness) compensate in real traffic...... by careful driving or not, the rate of car accidents over a 5-year period was investigated. A questionnaire was addressed to 140 patients with and 142 controls without symptoms associated to SAS. Seventy-three of the patients had a complete triad of SAS-associated symptoms. Fifty-two percent...... with a complete triad of symptoms of SAS compared to controls (p less than 0.001). When corrected for mileage driven, the total number of single-car accidents was almost 12 times higher among patients with sleep spells whilst driving, compared to controls (p less than 0.001). It is concluded that drivers...

  18. Free amino acids in fibromyalgia syndrome: relationship with clinical picture.

    Science.gov (United States)

    Ruggiero, Valeria; Mura, Massimiliano; Cacace, Enrico; Era, Benedetta; Peri, Marcella; Sanna, Giuseppina; Fais, Antonella

    2017-04-01

    The objectives of our study were to evaluate free amino acid (FAA) concentrations in the serum of patients affected by fibromyalgia syndrome (FMS) and to determine the relationships between FAA levels and FMS clinical parameters. Thus, serum amino acid concentrations were quantified (HPLC analysis) in 23 females with fibromyalgia (according to the American College of Rheumatology classification criteria) and 20 healthy females. The results showed significantly higher serum concentrations of aspartate, cysteine, glutamate, glycine, isoleucine, leucine, methionine, ornithine, phenylalanine, sarcosine, serine, taurine, tyrosine and valine in FMS patients vs. healthy controls. Patients with higher Fibromyalgia Impact Questionnaire (FIQ) scores showed increased levels of alanine, glutamine, isoleucine, leucine, phenylalanine, proline and valine. In conclusion, our results indicate an imbalance in some FAAs in FMS patients. Increased Glu is particularly interesting, as it could explain the deficit in monoaminergic transmission involved in pain.

  19. [Asthma and metabolic syndrome: Clinical and pathogenetic relationships].

    Science.gov (United States)

    Budnevsky, A V; Malysh, E Yu; Ovsyannikov, E S; Drobysheva, E S

    2015-01-01

    Asthma and metabolic syndrome (MS) are common and social diseases. External and internal factors influencing the development and manifestations of asthma are identified; among which there is obesity that is a major risk factor for MS. Accordingly, the concurrence of asthma and MS and to study their clinical and pathogenetic relationships are a topical problem. There is a tendency to identify a particular asthma phenotype that is characterized by later-onset disease in the presence of obesity; the low prevalence of atopy, low serum level of IgE, and a poorly-controlled course with a trend of standard therapy resistance. It is necessary to understand the essence of asthma cause-effect relationships in the presence of obesity for defining management tactics for this group of patients.

  20. Clinical presentation and management of neonatal abstinence syndrome: an update

    Directory of Open Access Journals (Sweden)

    Ordean A

    2014-04-01

    Full Text Available Alice Ordean,1 Brian C Chisamore21Department of Family Medicine, 2Department of Pediatrics, St Joseph's Health Centre, and University of Toronto, Toronto, ON, CanadaAbstract: Exposure to prescription medications and illicit drug use during pregnancy has been associated with neonatal abstinence syndrome. The clinical presentation consists of neurological respiratory, gastrointestinal, and vasomotor disturbances. All infants require observation and supportive care to ensure appropriate adaptation and growth in the newborn period. A smaller percentage may also require additional pharmacotherapy, depending on the specific gestational substance exposure. Women should be counseled antenatally about the possible neonatal effects, and mother–baby dyad care should be implemented for this particular patient population.Keywords: neonatal withdrawal, opioids, marijuana, cocaine, benzodiazepines, selective serotonin reuptake inhibitors

  1. Clinical characteristics in Taiwanese women with polycystic ovary syndrome

    Science.gov (United States)

    2015-01-01

    Polycystic ovary syndrome (PCOS) is one of the most common hormonal endocrine disorders in women of reproductive age. It consists of a heterogeneous collection of signs and symptoms that together form a disorder spectrum. The diagnosis of PCOS is principally based on clinical and physical findings. The extent of metabolic abnormalities in women with PCOS varies with phenotype, body weight, age, and ethnicity. For general population, the prevalence of hyperandrogenism and oligomenorrhea decreases with age, while complications such as insulin resistance and other metabolic disturbances increase with age. Obese women with PCOS have a higher risk of developing oligomenorrhea, amenorrhea, hyperandrogenemia, insulin resistance, and lower luteinizing hormone (LH) to follicle stimulation hormone (FSH) ratios than non-obese women with PCOS. The LH to FSH ratio is a valuable diagnostic tool in evaluating Taiwanese women with PCOS, especially in the diagnosis of oligomenorrhea. Overweight/obesity is the major determinant of cardiovascular and metabolic disturbances in women of reproductive age. PMID:26473107

  2. Clinical association: Lyme disease and Guillain-Barre syndrome.

    Science.gov (United States)

    Patel, Kinner; Shah, Siddharth; Subedi, Dinesh

    2017-10-01

    Guillain-Barre Syndrome (GBS) is a life-threatening condition in which patients may present to the Emergency Department in respiratory distress leading to death. The early identification and treatment of such a condition is paramount in preventing mortality. While there are many infections associated with GBS, the association with Lyme disease is uncommon. Through our case we aim to highlight Borrelia burgdorferi as an important antecedent infection associated with the development of GBS. In this case we report a 31-year-old male who was diagnosed with Lyme disease and GBS with relevant clinical presentation including progressive numbness and weakness in bilateral hands and feet for the past 1week along with areflexia. Initiation of medical therapy with intravenous immunoglobulin and parenteral ceftriaxone resulted in resolution of his symptoms. The treatment of both diseases early can help prevent further central nervous complications leading to high morbidity and mortality. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.

    Science.gov (United States)

    Pavlovic, Sasha; Krunic, Aleksandar L; Bulj, Tanja K; Medenica, Maria M; Fong, Kenneth; Arita, Ken; McGrath, John A

    2012-01-01

    Acral peeling skin syndrome (APSS) is a rare, autosomal, recessive genodermatosis characterized by painless spontaneous exfoliation of the skin of the hands and feet at a subcorneal or intracorneal level. It usually presents at birth or appears later in childhood or early adulthood. Some cases result from mutations in the TGM5 gene that encodes transglutaminase 5, which has an important role in cross-linking cornified cell envelope proteins. We report a new APSS pedigree from Jordan that contains at least 10 affected family members, although sequencing of the TGM5 gene failed to disclose any pathogenic mutation(s). On the basis of probable consanguinity, we performed homozygosity mapping and identified areas of homozygosity on chromosomes 1, 6, 10, 13, and 16, although none of the intervals contained genes of clear relevance to cornification. APSS is a clinically and genetically heterogeneous disorder, and this Jordanian pedigree underscores the likelihood of still further heterogeneity. © 2011 Wiley Periodicals, Inc.

  4. Implications of inaccurate clinical nodal staging in pancreatic adenocarcinoma.

    Science.gov (United States)

    Swords, Douglas S; Firpo, Matthew A; Johnson, Kirsten M; Boucher, Kenneth M; Scaife, Courtney L; Mulvihill, Sean J

    2017-07-01

    Many patients with stage I-II pancreatic adenocarcinoma do not undergo resection. We hypothesized that (1) clinical staging underestimates nodal involvement, causing stage IIB to have a greater percent of resected patients and (2) this stage-shift causes discrepancies in observed survival. The Surveillance, Epidemiology, and End Results (SEER) research database was used to evaluate cause-specific survival in patients with pancreatic adenocarcinoma from 2004-2012. Survival was compared using the log-rank test. Single-center data on 105 patients who underwent resection of pancreatic adenocarcinoma without neoadjuvant treatment were used to compare clinical and pathologic nodal staging. In SEER data, medium-term survival in stage IIB was superior to IB and IIA, with median cause-specific survival of 14, 9, and 11 months, respectively (P < .001). Seventy-two percent of stage IIB patients underwent resection vs 28% in IB and 36% in IIA (P < .001). In our institutional data, 12.4% of patients had clinical evidence of nodal involvement vs 69.5% by pathologic staging (P < .001). Among clinical stage IA-IIA patients, 71.6% had nodal involvement by pathologic staging. Both SEER and institutional data support substantial underestimation of nodal involvement by clinical staging. This finding has implications in decisions regarding neoadjuvant therapy and analysis of outcomes in the absence of pathologic staging. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Point-of-care testing for chlamydia and gonorrhoea: implications for clinical practice.

    Directory of Open Access Journals (Sweden)

    Lisa Natoli

    Full Text Available Point-of-care (POC testing for chlamydia (CT and gonorrhoea (NG offers a new approach to the diagnosis and management of these sexually transmitted infections (STIs in remote Australian communities and other similar settings. Diagnosis of STIs in remote communities is typically symptom driven, and for those who are asymptomatic, treatment is generally delayed until specimens can be transported to the reference laboratory, results returned and the patient recalled. The objective of this study was to explore the clinical implications of using CT/NG POC tests in routine clinical care in remote settings.In-depth qualitative interviews were conducted with a purposively selected group of 18 key informants with a range of sexual health and laboratory expertise.Participants highlighted the potential impact POC testing would have on different stages of the current STI management pathway in remote Aboriginal communities and how the pathway would change. They identified implications for offering a POC test, specimen collection, conducting the POC test, syndromic management of STIs, pelvic inflammatory disease diagnosis and management, interpretation and delivery of POC results, provision of treatment, contact tracing, management of client flow and wait time, and re-testing at 3 months after infection.The introduction of POC testing to improve STI service delivery requires careful consideration of both its advantages and limitations. The findings of this study will inform protocols for the implementation of CT/NG POC testing, and also STI testing and management guidelines.

  6. Point-of-Care Testing for Chlamydia and Gonorrhoea: Implications for Clinical Practice

    Science.gov (United States)

    Natoli, Lisa; Maher, Lisa; Shephard, Mark; Hengel, Belinda; Tangey, Annie; Badman, Steven G.; Ward, James; Guy, Rebecca J.

    2014-01-01

    Objectives Point-of-care (POC) testing for chlamydia (CT) and gonorrhoea (NG) offers a new approach to the diagnosis and management of these sexually transmitted infections (STIs) in remote Australian communities and other similar settings. Diagnosis of STIs in remote communities is typically symptom driven, and for those who are asymptomatic, treatment is generally delayed until specimens can be transported to the reference laboratory, results returned and the patient recalled. The objective of this study was to explore the clinical implications of using CT/NG POC tests in routine clinical care in remote settings. Methods In-depth qualitative interviews were conducted with a purposively selected group of 18 key informants with a range of sexual health and laboratory expertise. Results Participants highlighted the potential impact POC testing would have on different stages of the current STI management pathway in remote Aboriginal communities and how the pathway would change. They identified implications for offering a POC test, specimen collection, conducting the POC test, syndromic management of STIs, pelvic inflammatory disease diagnosis and management, interpretation and delivery of POC results, provision of treatment, contact tracing, management of client flow and wait time, and re-testing at 3 months after infection. Conclusions The introduction of POC testing to improve STI service delivery requires careful consideration of both its advantages and limitations. The findings of this study will inform protocols for the implementation of CT/NG POC testing, and also STI testing and management guidelines. PMID:24956111

  7. [Serial clinical and echocardiographic evaluation in children with Marfan syndrome].

    Science.gov (United States)

    Lopez, Victor Manuel Oporto; Perez, Ana Beatriz Alvarez; Moisés, Valdir Ambrósio; Gomes, Lourdes; Pedreira, Patricia da Silveira; Silva, Célia C; Campos Filho, Orlando; Carvalho, Antônio Carlos C

    2005-11-01

    To describe the clinical cardiac manifestations and temporal evolution of Marfan syndrome in children; to estimate the incidence of annuloaortic ectasia and mitral valve prolapse; and to evaluate tolerability and efficacy of beta-blockers in these patients. During one year, 21 children with Marfan syndrome underwent serial clinical and echocardiographic examinations. Echocardiograms assessed: the presence of mitral valve prolapse, aortic root diameter, mitral and aortic valves regurgitation, and aortic enlargement during beta-blocker therapy. Eleven patients had two measurements of the aortic root taken one year apart. The children were asymptomatic throughout the study. Mitral prolapse was found in 11 (52%) children. Annuloaortic ectasia occurred in 16 (76%) patients and found to be mild in 42.8%, moderate in 9.5%, and severe in 23.8%. One of these patients underwent aortic valve replacement and repair of the ascending aorta by the Bentall-De Bono technique, with good results. Heart rate decreased by 13.6% (from 85 to 73 bpm; p < 0.009) with the use of beta-blockers; however, aortic root diameter increased by 1.4 mm/year (p < 0.02). One child could not be given beta-blockers due to bronchial asthma, and no significant side effects were observed in the remaining children, including one who also had bronchial asthma. The children remained asymptomatic throughout the study, the use of beta-blockers led to a significant decrease in heart rate, and no significant adverse effects were observed. Contrary to the literature, incidence of annuloaortic ectasia was high among the study population, greater than that of mitral valve prolapse, even during beta-blocker therapy.

  8. Clinical and Imaging Findings in Childhood Posterior Reversible Encephalopathy Syndrome

    Science.gov (United States)

    GUNGOR, Serdal; KILIC, Betul; TABEL, Yilmaz; SELIMOGLU, Ayse; OZGEN, Unsal; YILMAZ, Sezai

    2018-01-01

    Objective Posterior reversible encephalopathy syndrome (PRES) is characterized by typical radiologic findings in the posterior regions of the cerebral hemispheres and cerebellum. The symptoms include headache, nausea, vomiting, visual disturbances, focal neurologic deficits, and seizures. The aim of this study is to evaluate the clinical and radiological features of PRES in children and to emphasize the recognition of atypical features. Materials & Methods We retrospectively examined 23 children with PRES from Mar 2010-Apr 2015 in Inonu University Turgut Ozal Medical Center in Turkey. We compared the clinical features and cranial MRI findings between underlying diseases of PRES. Results The most common precipitating factors were hypertension (78.2%) and medications, namely immunosuppressive and antineoplastic agents (60.8%). Manifestations included mental changes (100%), seizures (95.6%), headache (60.8%), and visual disturbances (21.7%) of mean 3.6 (range 1-10) days' duration. Cranial magnetic resonance imaging (MRI) showed bilateral occipital lesions in all patients, associated in 82.6% with less typical distribution of lesions in frontal, temporal or parietal lobes, cerebellum, corpus callosum, basal ganglia, thalamus, and brain stem. Frontal involvement was predominant, observed in 56.5% of patients. Clinical recovery was followed by radiologic resolution in all patients. Conclusion PRES is often unsuspected by the clinician, thus radiologists may be the first to suggest this diagnosis on an MRI obtained for seizures or encephalopathy. Atypical MRI finding is seen quite often. Rapid diagnosis and treatment are required to avoid a devastating outcome. PMID:29379559

  9. Clinical and radiological analysis of severe acute respiratory syndrome

    International Nuclear Information System (INIS)

    Li Long; Li Zhi; Chi Xiaoyu; Huang Shupeng; Sheng Yan

    2003-01-01

    Objective: To study the X-ray features of severe acute respiratory syndrome (SARS). Methods: The clinical data and X-ray appearances of 29 cases with SARS were analyzed retrospectively. Results: Epidemic outbreak of SARS has occurred at this area. 29 cases of SARS in this group began with a fever. 15 cases (51.7%) experienced mild respiratory symptoms. In 10 patients (34.5%) the antibacterial medication showed inefficacy before hospitalization. Leucocyte counting was normal in 18 cases (62.1%) and decreased in 11 cases (37.9%). Platelet counting slightly decreased in 7 cases (24.1%). Hepatic function test was abnormal in 16 patients (55.2%), mostly with a decrease of serum enzymology. Obvious abnormalities were seen on the chest films, which were in sharp contrast with the mild clinical respiratory signs. Chest X-ray findings were as follows: Exaggerated and indistinct lung markings with reticular shadow in 7 cases (24.1%), ground-glass opacity in 3 cases (10.4%), small patchy and multi-patchy imaging in 12 cases (41.4%), and large patchy shadow in 7 cases (24.1%). X-ray abnormality was presented later and absorbed slower. Conclusion: SARS carries a variety of X-ray appearances. The combined use of epidemiologic history, clinical situation, laboratory tests, and imaging examinations can make a definite diagnosis

  10. Hantavirus pulmonary syndrome clinical findings: evaluating a surveillance case definition.

    Science.gov (United States)

    Knust, Barbara; Macneil, Adam; Rollin, Pierre E

    2012-05-01

    Clinical cases of hantavirus pulmonary syndrome (HPS) can be challenging to differentiate from other acute respiratory diseases, which can lead to delays in diagnosis, treatment, and disease reporting. Rapid onset of severe disease occurs, at times before diagnostic test results are available. This study's objective was to examine the clinical characteristics of patients that would indicate HPS to aid in detection and reporting. Test results of blood samples from U.S. patients suspected of having HPS submitted to the Centers for Disease Control and Prevention from 1998-2010 were reviewed. Patient information collected by case report forms was compared between HPS-confirmed and test-negative patients. Diagnostic sensitivity, specificity, predictive values, and likelihood ratios were calculated for individual clinical findings and combinations of variables. Of 567 patients included, 36% were HPS-confirmed. Thrombocytopenia, chest x-rays with suggestive signs, and receiving supplemental oxygenation were highly sensitive (>95%), while elevated hematocrit was highly specific (83%) in detecting HPS. Combinations that maximized sensitivity required the presence of thrombocytopenia. Using a national sample of suspect patients, we found that thrombocytopenia was a highly sensitive indicator of HPS and should be included in surveillance definitions for suspected HPS. Using a sensitive suspect case definition to identify potential HPS patients that are confirmed by highly specific diagnostic testing will ensure accurate reporting of this disease.

  11. Solitary rectal ulcer syndrome: clinical findings, surgical treatment, and outcomes.

    Science.gov (United States)

    Torres, Carlos; Khaikin, Marat; Bracho, Jorge; Luo, Cheng Hua; Weiss, Eric G; Sands, Dana R; Cera, Susan; Nogueras, Juan J; Wexner, Steven D

    2007-11-01

    Solitary rectal ulcer syndrome (SRUS) is a rare disorder often misdiagnosed as a malignant ulcer. Histopathological features of SRUS are characteristic and pathognomonic; nevertheless, the endoscopic and clinical presentations may be confusing. The aim of the present study was to assess the clinical findings, surgical treatment, and outcomes in patients who suffer from SRUS. A retrospective chart review was undertaken, from January 1989 to May 2005 for all patients who were diagnosed with SRUS. Data recorded included: patient's age, gender, clinical presentation, past surgical history, diagnostic and preoperative workup, operative procedure, complications, and outcomes. During the study period, 23 patients were diagnosed with SRUS. Seven patients received only medical treatment, and in three patients, the ulcer healed after medical treatment. Sixteen patients underwent surgical treatment. In four patients, the symptoms persisted after surgery. Two patients presented with postoperative rectal bleeding requiring surgical intervention. Three patients developed late postoperative sexual dysfunction. One patient continued suffering from rectal pain after a colostomy was constructed. Median follow-up was 14 (range 2-84) months. The results of this study show clearly that every patient with SRUS must be assessed individually. Initial treatment should include conservative measures. In patients with refractory symptoms, surgical treatment should be considered. Results of anterior resection and protocolectomy are satisfactory for solitary rectal ulcer.

  12. Segmental stiff skin syndrome (SSS): A distinct clinical entity.

    Science.gov (United States)

    Myers, Kathryn L; Mir, Adnan; Schaffer, Julie V; Meehan, Shane A; Orlow, Seth J; Brinster, Nooshin K

    2016-07-01

    Stiff skin syndrome (SSS) is a noninflammatory, fibrosing condition of the skin, often affecting the limb girdles. We present 4 new patients with SSS with largely unilateral, segmental distribution. To date, reported cases of SSS have been grouped based on generally accepted clinical and histopathologic findings. The purpose of this study was to analyze differences in clinical and histopathologic findings between previously reported SSS cases. This is a retrospective review of 4 new cases and 48 previously published cases of SSS obtained from PubMed search. Of 52 total cases, 18 (35%) were segmentally distributed and 34 (65%) were widespread. The average age of onset was 4.1 years versus 1.6 years for segmental versus widespread SSS, respectively. Limitation in joint mobility affected 44% of patients with segmental SSS and 97% of patients with widespread SSS. Histopathologic findings were common between the 2 groups. This was a retrospective study of previously published cases limited by the completeness and accuracy of the reviewed cases. We propose a distinct clinical entity, segmental SSS, characterized by a segmental distribution, later age of onset, and less severe functional limitation. Both segmental SSS and widespread SSS share common diagnostic histopathologic features. Copyright © 2016 American Academy of Dermatology, Inc. All rights reserved.

  13. Implications of caries diagnostic strategies for clinical management decisions

    DEFF Research Database (Denmark)

    Baelum, Vibeke; Hintze, Hanne; Wenzel, Ann

    2012-01-01

    -specificity) were calculated for each diagnostic strategy. RESULTS: Visual-tactile examination provided a true-positive rate of 34.2% and a false-positive rate of 1.5% for the detection of a cavity. The combination of a visual-tactile and a radiographic examination using the lesion in dentin threshold......OBJECTIVES: In clinical practice, a visual-tactile caries examination is frequently supplemented by bitewing radiography. This study evaluated strategies for combining visual-tactile and radiographic caries detection methods and determined their implications for clinical management decisions...... and cavitated lesions while the radiographic examination determined lesion depth. Direct inspection of the surfaces following tooth separation for the presence of cavitated or noncavitated lesions was the validation method. The true-positive rate (i.e. the sensitivity) and the false-positive rate (i.e. 1...

  14. Olive oil and postprandial hyperlipidemia: implications for atherosclerosis and metabolic syndrome.

    Science.gov (United States)

    Montserrat-de la Paz, Sergio; Bermudez, Beatriz; Cardelo, Magdalena P; Lopez, Sergio; Abia, Rocio; Muriana, Francisco J G

    2016-12-07

    Olive oil is the primary source of fat in the Mediterranean diet, which is associated with a significant improvement in health status, as measured by reduced mortality from several chronic diseases. The current pandemic of obesity, metabolic syndrome, and type 2 diabetes is intimately associated with an atherogenic dyslipidemic phenotype. The core components of the dyslipidemia of the metabolic syndrome, which most likely initiate atherosclerosis, are the "lipid triad" consisting of high plasma triglycerides, low levels of high-density lipoproteins, and a preponderance of small, dense low-density lipoproteins at fasting. However, postprandial (non-fasting) TGs (postprandial hyperlipidemia) are also recognized as an important component for atherosclerosis. Herein, the purpose of this review was to provide an update on the effects and mechanisms related to olive oil on postprandial hyperlipidemia and its implications for the onset and progression of atherosclerosis and metabolic syndrome.

  15. Diet and Sleep Physiology: Public Health and Clinical Implications

    Directory of Open Access Journals (Sweden)

    Sarah Frank

    2017-08-01

    Full Text Available This mini-review examines the complex relationship between diet and sleep and explores the clinical and public health implications of the current evidence. Dietary quality and intake of specific nutrients can impact regulatory hormonal pathways to alter sleep quantity and quality. Sleep, in turn, affects the intake of total energy, as well as of specific foods and nutrients, through biological and behavioral mechanisms. Initial research in this field focused primarily on the effects of short sleep duration on nutritional quality. However, more recent studies have explored the dynamic relationship between long sleep duration and diet. Current evidence suggests that extremes of sleep duration alter sleep patterns, hormonal levels, and circadian rhythms, which contribute to weight-related outcomes and obesity, and other risk factors for the development of chronic disease such as type 2 diabetes and cardiovascular disease. These patterns may begin as early as childhood and have impacts throughout the life course. Given that non-communicable diseases are among the leading causes of death globally, deeper understanding of the interactions between sleep and nutrition has implications for both public health and clinical practice.

  16. MERRF Classification: Implications for Diagnosis and Clinical Trials.

    Science.gov (United States)

    Finsterer, Josef; Zarrouk-Mahjoub, Sinda; Shoffner, John M

    2018-03-01

    Given the etiologic heterogeneity of disease classification using clinical phenomenology, we employed contemporary criteria to classify variants associated with myoclonic epilepsy with ragged-red fibers (MERRF) syndrome and to assess the strength of evidence of gene-disease associations. Standardized approaches are used to clarify the definition of MERRF, which is essential for patient diagnosis, patient classification, and clinical trial design. Systematic literature and database search with application of standardized assessment of gene-disease relationships using modified Smith criteria and of variants reported to be associated with MERRF using modified Yarham criteria. Review of available evidence supports a gene-disease association for two MT-tRNAs and for POLG. Using modified Smith criteria, definitive evidence of a MERRF gene-disease association is identified for MT-TK. Strong gene-disease evidence is present for MT-TL1 and POLG. Functional assays that directly associate variants with oxidative phosphorylation impairment were critical to mtDNA variant classification. In silico analysis was of limited utility to the assessment of individual MT-tRNA variants. With the use of contemporary classification criteria, several mtDNA variants previously reported as pathogenic or possibly pathogenic are reclassified as neutral variants. MERRF is primarily an MT-TK disease, with pathogenic variants in this gene accounting for ~90% of MERRF patients. Although MERRF is phenotypically and genotypically heterogeneous, myoclonic epilepsy is the clinical feature that distinguishes MERRF from other categories of mitochondrial disorders. Given its low frequency in mitochondrial disorders, myoclonic epilepsy is not explained simply by an impairment of cellular energetics. Although MERRF phenocopies can occur in other genes, additional data are needed to establish a MERRF disease-gene association. This approach to MERRF emphasizes standardized classification rather than clinical

  17. Pain, opioids, and sleep: implications for restless legs syndrome treatment.

    Science.gov (United States)

    Trenkwalder, Claudia; Zieglgänsberger, Walter; Ahmedzai, Sam H; Högl, Birgit

    2017-03-01

    Opioid receptor agonists are known to relieve restless legs syndrome (RLS) symptoms, including both sensory and motor events, as well as improving sleep. The mechanisms of action of opioids in RLS are still a matter of speculation. The mechanisms by which endogenous opioids contribute to the pathophysiology of this polygenetic disorder, in which there are a number of variants, including developmental factors, remains unknown. A summary of the cellular mode of action of morphine and its (partial) antagonist naloxone via α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors and the involvement of dendritic spine activation is described. By targeting pain and its consequences, opioids are the first-line treatment in many diseases and conditions with both acute and chronic pain and have thus been used in both acute and chronic pain conditions over the last 40 years. Addiction, dependence, and tolerability of opioids show a wide variability interindividually, as the response to opioids is influenced by a complex combination of genetic, molecular, and phenotypic factors. Although several trials have now addressed opioid treatment in RLS, hyperalgesia as a complication of long-term opioid treatment, or opioid-opioid interaction have not received much attention so far. Therapeutic opioids may act not only on opioid receptors but also via histamine or N-methyl-d-aspartate (NMDA) receptors. In patients with RLS, one of the few studies investigating opioid bindings found that possible brain regions involved in the severity of RLS symptoms are similar to those known to be involved in chronic pain, such as the medial pain system (medial thalamus, amygdala, caudate nucleus, anterior cingulate gyrus, insular cortex, and orbitofrontal cortex). The results of this diprenorphine positron emission tomography study suggested that the more severe the RLS, the greater the release of endogenous opioids. Since 1993, when the first small controlled study was performed with

  18. Fructose, Glucocorticoids and Adipose Tissue: Implications for the Metabolic Syndrome.

    Science.gov (United States)

    Legeza, Balázs; Marcolongo, Paola; Gamberucci, Alessandra; Varga, Viola; Bánhegyi, Gábor; Benedetti, Angiolo; Odermatt, Alex

    2017-04-26

    The modern Western society lifestyle is characterized by a hyperenergetic, high sugar containing food intake. Sugar intake increased dramatically during the last few decades, due to the excessive consumption of high-sugar drinks and high-fructose corn syrup. Current evidence suggests that high fructose intake when combined with overeating and adiposity promotes adverse metabolic health effects including dyslipidemia, insulin resistance, type II diabetes, and inflammation. Similarly, elevated glucocorticoid levels, especially the enhanced generation of active glucocorticoids in the adipose tissue due to increased 11β-hydroxysteroid dehydrogenase 1 (11β-HSD1) activity, have been associated with metabolic diseases. Moreover, recent evidence suggests that fructose stimulates the 11β-HSD1-mediated glucocorticoid activation by enhancing the availability of its cofactor NADPH. In adipocytes, fructose was found to stimulate 11β-HSD1 expression and activity, thereby promoting the adipogenic effects of glucocorticoids. This article aims to highlight the interconnections between overwhelmed fructose metabolism, intracellular glucocorticoid activation in adipose tissue, and their metabolic effects on the progression of the metabolic syndrome.

  19. Hemorrhagic fever with renal syndrome: clinical, pathogenetic and therapeutic aspects

    Directory of Open Access Journals (Sweden)

    Vera F. Pavelkina

    2017-09-01

    Full Text Available Introduction: The republic of Mordovia (RM is an active natural focus of hemorrhagic fever with renal syndrome (HFRS. The incidence of HFRS ranges from 10 to 40 cases per 100 000 people, i.e. exceeds the average Russian rate. The relevance of HFRS is determined by the involvement of many organs and systems in the pathological process. The intoxication syndrome (IS takes a leading place in the pathogenesis of the disease. The development of IS is associated with both the phenomenon of viremia, and the accumulation of endogenous toxins in the body. Despite the large number of recommendations, the problem of IS correction is not completely solved. Antiviral drugs are not applicable in connection with a short period of viremia. Therefore, the basis of treatment is pathogenetic therapy. The purpose of research is to study the clinical, epidemiological and therapeutic aspects of the medium degree HFRS. Materials and Methods: In the course of the study, the patients of two groups were examined: the first group (comparison group, 35 patients received basal therapy; the second group (primary group, 25 patients received a dropwise preparation of remaxol (400 ml for 7 days intravenously. The control group consisted of 30 healthy people of a similar age group. The clinical features of the disease in the Republic of Mordovia, as well as objective indicators were observed. Urea, creatinine, alanine aminotransferase (ALT, aspartate aminotransferase (AST, medium-weight molecules (MWM, circulating immune complexes (CIC, total, effective concentration and binding capacity of albumin (TCA, ECA, BCA, and toxicity index (TI were studied. Results: The infection was mainly in rural areas (78.3 %. Despite the c yclicity of the course, there was no clearly defined period of oliguria in the HFRS clinic (in 22 %, polyuria in 27 % of cases. Hepatomegaly is combined with a change in functional liver samples. The pathological changes indicate the presence of IS, which

  20. An updated concept of coagulation with clinical implications.

    Science.gov (United States)

    Romney, Gregory; Glick, Michael

    2009-05-01

    Over the past century, a series of models have been put forth to explain the coagulation mechanism. The coagulation cascade/waterfall model has gained the most widespread acceptance. This model, however, has problems when it is used in different clinical scenarios. A more recently proposed cell-based model better describes the coagulation process in vivo and provides oral health care professionals (OHCPs) with a better understanding of the clinical implications of providing dental care to patients with potentially increased bleeding tendencies. The authors conducted a literature search using the PubMed database. They searched for key words including "coagulation," "hemostasis," "bleeding," "coagulation factors," "models," "prothrombin time," "activated partial thromboplastin time," "international normalized ratio," "anticoagulation therapy" and "hemophilia" separately and in combination. The coagulation cascade/waterfall model is insufficient to explain coagulation in vivo, predict a patient's bleeding tendency, or correlate clinical outcomes with specific laboratory screening tests such as prothrombin time, activated partial thromboplastin time and international normalized ratio. However, the cell-based model of coagulation that reflects the in vivo process of coagulation provides insight into the clinical ramifications of treating dental patients with specific coagulation factor deficiencies. Understanding the in vivo coagulation process will help OHCPs better predict a patient's bleeding tendency. In addition, applying the theoretical concept of the cell-based model of coagulation to commonly used laboratory screening tests for coagulation and bleeding will result in safer and more appropriate dental care.

  1. Typology of Internet gaming disorder and its clinical implications.

    Science.gov (United States)

    Lee, Seung-Yup; Lee, Hae Kook; Choo, Hyekyung

    2017-07-01

    Various perspectives exist regarding Internet gaming disorder. While the concept of behavioral addiction is gaining recognition, some view the phenomenon as merely excessive indulgence in online pastimes. Still, in recent years, complaints from patients or their family members about problems related to Internet use, particularly Internet gaming, have become more common. However, the clinical picture of Internet gaming disorder could be obscured by its heterogeneous manifestations with other intertwined factors, such as psychiatric comorbidities, neurodevelopmental factors, sociocultural factors, and game-related factors, which may influence the pathogenesis as well as the clinical course. To mitigate such problems, clinicians should be able to consider diverse aspects related to Internet gaming disorder. Classifying such a heterogeneous problem into subtypes that share a similar etiology or phenomenology may provide additional clues in the diagnostic process and allow us to designate available clinical resources for particularly vulnerable factors. In this review paper, we suggest a typology of 'impulsive/aggressive,' 'emotionally vulnerable,' 'socially conditioned,' and 'not otherwise specified' as subtypes of the heterogeneous phenomena of pathological Internet gaming. The implications of these subtypes for assessment and treatment planning will also be highlighted. © 2016 The Authors. Psychiatry and Clinical Neurosciences © 2016 Japanese Society of Psychiatry and Neurology.

  2. Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

    Science.gov (United States)

    Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A; Barroso, Bruno; Baxter, Peter; Benko, Willam S; Bergmann, Carsten; Bertini, Enrico; Biancheri, Roberta; Blair, Edward M; Blau, Nenad; Bonthron, David T; Briggs, Tracy; Brueton, Louise A; Brunner, Han G; Burke, Christopher J; Carr, Ian M; Carvalho, Daniel R; Chandler, Kate E; Christen, Hans-Jurgen; Corry, Peter C; Cowan, Frances M; Cox, Helen; D'Arrigo, Stefano; Dean, John; De Laet, Corinne; De Praeter, Claudine; Dery, Catherine; Ferrie, Colin D; Flintoff, Kim; Frints, Suzanna G M; Garcia-Cazorla, Angels; Gener, Blanca; Goizet, Cyril; Goutieres, Francoise; Green, Andrew J; Guet, Agnes; Hamel, Ben C J; Hayward, Bruce E; Heiberg, Arvid; Hennekam, Raoul C; Husson, Marie; Jackson, Andrew P; Jayatunga, Rasieka; Jiang, Yong-Hui; Kant, Sarina G; Kao, Amy; King, Mary D; Kingston, Helen M; Klepper, Joerg; van der Knaap, Marjo S; Kornberg, Andrew J; Kotzot, Dieter; Kratzer, Wilfried; Lacombe, Didier; Lagae, Lieven; Landrieu, Pierre Georges; Lanzi, Giovanni; Leitch, Andrea; Lim, Ming J; Livingston, John H; Lourenco, Charles M; Lyall, E G Hermione; Lynch, Sally A; Lyons, Michael J; Marom, Daphna; McClure, John P; McWilliam, Robert; Melancon, Serge B; Mewasingh, Leena D; Moutard, Marie-Laure; Nischal, Ken K; Ostergaard, John R; Prendiville, Julie; Rasmussen, Magnhild; Rogers, R Curtis; Roland, Dominique; Rosser, Elisabeth M; Rostasy, Kevin; Roubertie, Agathe; Sanchis, Amparo; Schiffmann, Raphael; Scholl-Burgi, Sabine; Seal, Sunita; Shalev, Stavit A; Corcoles, C Sierra; Sinha, Gyan P; Soler, Doriette; Spiegel, Ronen; Stephenson, John B P; Tacke, Uta; Tan, Tiong Yang; Till, Marianne; Tolmie, John L; Tomlin, Pam; Vagnarelli, Federica; Valente, Enza Maria; Van Coster, Rudy N A; Van der Aa, Nathalie; Vanderver, Adeline; Vles, Johannes S H; Voit, Thomas; Wassmer, Evangeline; Weschke, Bernhard; Whiteford, Margo L; Willemsen, Michel A A; Zankl, Andreas; Zuberi, Sameer M; Orcesi, Simona; Fazzi, Elisa; Lebon, Pierre; Crow, Yanick J

    2007-10-01

    Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P=.001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified.

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

    Science.gov (United States)

    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.

  4. Restless Legs Syndrome: From Pathophysiology to Clinical Diagnosis and Management

    Directory of Open Access Journals (Sweden)

    Shiyi Guo

    2017-06-01

    Full Text Available Restless legs syndrome (RLS, a common neurological sensorimotor disorder in western countries, has gained more and more attention in Asian countries. The prevalence of RLS is higher in older people and females. RLS is most commonly related to iron deficiency, pregnancy and uremia. The RLS symptoms show a significant circadian rhythm and a close relationship to periodic limb movements (PLMs in clinical observations, while the pathophysiological pathways are still unknown. The diagnostic criteria have been revised in 2012 to improve the validity of RLS diagnosis. Recent studies have suggested an important role of iron decrease of brain in RLS pathophysiology. Dopaminergic (DA system dysfunction in A11 cell groups has been recognized long ago from clinical treatment and autopsy. Nowadays, it is believed that iron dysfunction can affect DA system from different pathways and opioids have a protective effect on DA system. Several susceptible single nucleotide polymorphisms such as BTBD9 and MEIS1, which are thought to be involved in embryonic neuronal development, have been reported to be associated with RLS. Several pharmacological and non-pharmacological treatment are discussed in this review. First-line treatments of RLS include DA agents and α2δ agonists. Augmentation is very common in long-term treatment of RLS which makes prevention and management of augmentation very important for RLS patients. A combination of different types of medication is effective in preventing and treating augmentation. The knowledge on RLS is still limited, the pathophysiology and better management of RLS remain to be discovered.

  5. THE PREVALENCE AND CLINICAL CHARACTERISTICS OF PRIMARY HEADACHE IN IRRITABLE BOWEL SYNDROME: a subgroup of the functional somatic syndromes

    Directory of Open Access Journals (Sweden)

    Rosa LS SOARES

    2013-12-01

    Full Text Available Context The irritable bowel syndrome and primary headache are two chronic diseases characterized by symptoms of recurring pain and affect approximately 10%-20% of the general population. Objectives To study the prevalence of primary headache in volunteers with irritable bowel syndrome in a Brazilian urban community. Methods It was evaluated the prevalence of primary headache associated with irritable bowel syndrome in adult volunteers 330 no patients.The protocol included the Rome III criteria, international classification of Headaches, later divided into four groups: I- Irritable bowel syndrome (n = 52, II- Primary headache (n = 45, III-Irritable bowel syndrome (n = 26 and headache, and IV- Controls (207. Results We not found significant difference in the average age of the four groups and the diagnosis of irritable bowel syndrome, primary headache and their association was more frequent in females. The frequent use of analgesics was greater in groups II and III. Conclusion Our results suggest that irritable bowel syndrome and primary headache are also common in third world countries. The frequency in use of analgesics in association between the two entities was relevant. The identification of irritable bowel syndrome patients with different clinical sub-types could improve the therapeutics options and the prevention strategies.

  6. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

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    Néstor Pacenza

    2012-01-01

    Full Text Available The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%. Most of the patients (83.7% showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases.

  7. The implication of neuroactive steroids in Tourette syndrome pathogenesis: a role for 5α-reductase?

    Science.gov (United States)

    Bortolato, Marco; Frau, Roberto; Godar, Sean C; Mosher, Laura J; Paba, Silvia; Marrosu, Francesco; Devoto, Paola

    2013-01-01

    Tourette syndrome (TS) is a neurodevelopmental disorder characterized by recurring motor and phonic tics. The pathogenesis of TS is thought to reflect dysregulations in the signaling of dopamine (DA) and other neurotransmitters, which lead to excitation/inhibition imbalances in cortico-striato-thalamocortical circuits. The causes of these deficits may reflect complex gene × environment × sex (G×E×S) interactions; indeed, the disorder is markedly predominant in males, with a male-to-female prevalence ratio of ~4:1. Converging lines of evidence point to neuroactive steroids as likely molecular candidates to account for GxExS interactions in TS. Building on these premises, our group has begun examining the possibility that alterations in the steroid biosynthetic process may be directly implicated in TS pathophysiology; in particular, our research has focused on 5α-reductase (5αR), the enzyme catalyzing the key rate-limiting step in the synthesis of pregnane and androstane neurosteroids. In clinical and preclinical studies, we found that 5αR inhibitors exerted marked anti-DAergic and tic-suppressing properties, suggesting a central role for this enzyme in TS pathogenesis. Based on these data, we hypothesize that enhancements in 5αR activity in early developmental stages may lead to an inappropriate activation of the “backdoor” pathway for androgen synthesis from adrenarche until the end of puberty. We predict that the ensuing imbalances in steroid homeostasis may impair the signaling of DA and other neurotransmitters, ultimately resulting in the facilitation of tics and other behavioral abnormalities in TS. PMID:23795653

  8. Prediction of polycystic ovarian syndrome based on ultrasound findings and clinical parameters.

    Science.gov (United States)

    Moschos, Elysia; Twickler, Diane M

    2015-03-01

    To determine the accuracy of sonographic-diagnosed polycystic ovaries and clinical parameters in predicting polycystic ovarian syndrome. Medical records and ultrasounds of 151 women with sonographically diagnosed polycystic ovaries were reviewed. Sonographic criteria for polycystic ovaries were based on 2003 Rotterdam European Society of Human Reproduction and Embryology/American Society for Reproductive Medicine guidelines: at least one ovary with 12 or more follicles measuring 2-9 mm and/or increased ovarian volume >10 cm(3) . Clinical variables of age, gravidity, ethnicity, body mass index, and sonographic indication were collected. One hundred thirty-five patients had final outcomes (presence/absence of polycystic ovarian syndrome). Polycystic ovarian syndrome was diagnosed if a patient had at least one other of the following two criteria: oligo/chronic anovulation and/or clinical/biochemical hyperandrogenism. A logistic regression model was constructed using stepwise selection to identify variables significantly associated with polycystic ovarian syndrome (p polycystic ovaries and 115 (89.8%) had polycystic ovarian syndrome (p = .009). Lower gravidity, abnormal bleeding, and body mass index >33 were significant in predicting polycystic ovarian syndrome (receiver operating characteristics curve, c = 0.86). Pain decreased the likelihood of polycystic ovarian syndrome. Polycystic ovaries on ultrasound were sensitive in predicting polycystic ovarian syndrome. Ultrasound, combined with clinical parameters, can be used to generate a predictive index for polycystic ovarian syndrome. © 2014 Wiley Periodicals, Inc.

  9. Clinical Implications of Hedgehog Pathway Signaling in Prostate Cancer

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    Daniel L. Suzman

    2015-09-01

    Full Text Available Activity in the Hedgehog pathway, which regulates GLI-mediated transcription, is important in organogenesis and stem cell regulation in self-renewing organs, but is pathologically elevated in many human malignancies. Mutations leading to constitutive activation of the pathway have been implicated in medulloblastoma and basal cell carcinoma, and inhibition of the pathway has demonstrated clinical responses leading to the approval of the Smoothened inhibitor, vismodegib, for the treatment of advanced basal cell carcinoma. Aberrant Hedgehog pathway signaling has also been noted in prostate cancer with evidence suggesting that it may render prostate epithelial cells tumorigenic, drive the epithelial-to-mesenchymal transition, and contribute towards the development of castration-resistance through autocrine and paracrine signaling within the tumor microenvironment and cross-talk with the androgen pathway. In addition, there are emerging clinical data suggesting that inhibition of the Hedgehog pathway may be effective in the treatment of recurrent and metastatic prostate cancer. Here we will review these data and highlight areas of active clinical research as they relate to Hedgehog pathway inhibition in prostate cancer.

  10. Burning mouth syndrome: Evaluation of clinical and laboratory findings.

    Science.gov (United States)

    Halac, Gulistan; Tekturk, Pinar; Eroglu, Saliha; Cikrikcioglu, Mehmet Ali; Cimendur, Ozlem; Kilic, Elif; Asil, Talip

    2016-07-30

    Burning mouth syndrome is a chronic and persistent painful condition characterized by burning sensation in the oral mucosa. We investigated the etiological factors of patients presented with the history of burning in the mouth who admitted our outpatient clinics over the 8-years period and who had no underlying identifiable local factors. We also tried to determine their demographic and clinical characteristics. Our aim was to investigate the association between burning mouth and psychiatric disorders such as depression and anxiety, chronic diseases like diabetes mellitus (DM) and other laboratory studies in patients complaining of solely burning in the mouth. The study included patients with the history of burning in mouth who presented in our outpatient clinic between 2005 and 2012. They were evaluated by a neurologist, a psychiatrist, an internist, and a dentist. Complete blood counts, biochemical analysis and cranial magnetic resonance imaging (MRI) were performed for all patients. A total of 26 (22 (84%) females, 4 (15%) males; mean age 55.9 years) patients were enrolled in this study. Five (19.2%) of the patients had depression, 2 (7.7%) had anxiety disorder, 2 (7.7%) had diabetes mellitus, 8 (30%) had B12 vitamin deficiency, 3 (11.5%) had decreased ferritin levels in blood, and 1 (3.8%) had folic acid deficiency. Cranial MRI of all patients were normal. Nine patients (34.6%) had no etiological causes. A multidisciplinary approach in the management of burning mouth and establishment of common criteria for the diagnosis would provide insight into the underlying pathophysiological mechanism.

  11. Diagnosis of antiphospholipid syndrome in routine clinical practice

    Science.gov (United States)

    Hills, J; Machin, SJ; Cohen, H

    2013-01-01

    The updated international consensus criteria for definite antiphospholipid syndrome (APS) are useful for scientific clinical studies. However, there remains a need for diagnostic criteria for routine clinical use. We audited the results of routine antiphospholipid antibodies (aPLs) in a cohort of 193 consecutive patients with aPL positivity-based testing for lupus anticoagulant (LA), IgG and IgM anticardiolipin (aCL) and anti-ß2glycoprotein-1 antibodies (aß2GPI). Medium/high-titre aCL/aβ2GPI was defined as >99th percentile. Low-titre aCL/aβ2GPI positivity (>95th < 99th percentile) was considered positive for obstetric but not for thrombotic APS. One hundred of the 145 patients fulfilled both clinical and laboratory criteria for definite APS. Twenty-six women with purely obstetric APS had persistent low-titre aCL and/or aβ2GPI. With the inclusion of these patients, 126 of the 145 patients were considered to have APS. Sixty-seven out of 126 patients were LA-negative, of whom 12 had aCL only, 37 had aβ2GPI only and 18 positive were for both. The omission of aCL or aβ2GPI testing from investigation of APS would have led to a failure to diagnose APS in 9.5% and 29.4% of patients, respectively. Our data suggest that LA, aCL and aβ2GPI testing are all required for the accurate diagnosis of APS and that low-titre antibodies should be included in the diagnosis of obstetric APS. PMID:22988029

  12. Clinical characteristics of pigment dispersion syndrome in Chinese patients.

    Science.gov (United States)

    Qing, G; Wang, N; Tang, X; Zhang, S; Chen, H

    2009-08-01

    To report clinical findings and characteristics of pigment dispersion syndrome (PDS) in Chinese patients. PDS suspects with any one of the following signs: corneal endothelial pigmentation, iris transillumination defects (ITDs), pigment granule dusting on anterior iris surface, posterior iris bowing, trabecular meshwork (TM) pigmentation, and lenticular or zonular pigmentation were evaluated for PDS at the glaucoma specialty clinic at Beijing Tongren Eye Centre. Diagnosis of PDS required at least two of the following signs: Krukenberg spindle, moderate-to-heavy TM pigmentation (>or=Scheie II) and any degree of lenticular and/or zonular pigmentation. Eighteen patients (12 males and six females) were identified as having PDS during a 1-year period, with mean age of 35.5+/-7.0 years (range, 22-49). All but two eyes from two patients had myopia of -0.5 D or greater, with mean spherical equivalent power of -5.20+/-5.80 D (range, -24.75+/-0.5). The average IOP at initial diagnosis was 33.7+/-10.5 mm Hg (range, 16-56). Fifteen patients (83.3%) were found to have pigmentary glaucoma at their initial diagnosis. All patients showed homogenous increased TM pigmentation as well as lenticular and/or zonular pigmentation. 61.1% of patients (11 of 18) had Krukenberg spindle. None of the patients exhibited spoke-like midperipheral ITDs except for trace-isolated transillumination in both eyes of the two patients. The most common clinical findings in Chinese PDS patients include homogeneous TM pigmentation and pigment granule dusting on lens zonules and/or posterior peripheral lens surface. ITDs are uncommon in Chinese patients with PDS.

  13. Psychosocial Implications of Usher Syndrome, Type I, throughout the Life Cycle.

    Science.gov (United States)

    Miner, I. D.

    1995-01-01

    Usher syndrome, Type I, requires multiple adaptations throughout the life cycle because each stage of life has tasks and losses associated with deafness and progressive retinitis pigmentosa. This article examines the issues raised at each stage, using clinical vignettes from persons who have this condition and their families. (Author/DB)

  14. α-Synuclein oligomers and clinical implications for Parkinson disease

    Science.gov (United States)

    Kalia, Lorraine V.; Kalia, Suneil K.; McLean, Pamela J.; Lozano, Andres M.; Lang, Anthony E.

    2012-01-01

    Protein aggregation within the central nervous system has been recognized as a defining feature of neurodegenerative diseases since the early 20th century. Since that time, there has been a growing list of neurodegenerative disorders, including Parkinson disease, which are characterized by inclusions of specific pathogenic proteins. This has led to the long-held dogma that these characteristic protein inclusions, which are composed of large insoluble fibrillar protein aggregates and visible by light microscopy, are responsible for cell death in these diseases. However, the correlation between protein inclusion formation and cytotoxicity is inconsistent suggesting another form of the pathogenic proteins may be contributing to neurodegeneration. There is emerging evidence implicating soluble oligomers, smaller protein aggregates not detectable by conventional microscopy, as potential culprits in the pathogenesis of neurodegenerative diseases. The protein α-synuclein is well recognized to contribute to the pathogenesis of Parkinson disease and is the major component of Lewy bodies and Lewy neurites. However, α-synuclein also forms oligomeric species with certain conformations being toxic to cells. The mechanisms by which these α-synuclein oligomers cause cell death are being actively investigated as they may provide new strategies for diagnosis and treatment of Parkinson disease and related disorders. Here we review the possible role of α-synuclein oligomers in cell death in Parkinson disease and discuss the potential clinical implications. PMID:23225525

  15. Impulse control disorders in Parkinson's disease: clinical characteristics and implications.

    Science.gov (United States)

    Leeman, Robert F; Potenza, Marc N

    2011-04-01

    Impulse control disorders (ICDs), specifically those related to excessive gambling, eating, sex and shopping, have been observed in a subset of people with Parkinson's disease (PD). Although some initial case reports claimed that dopamine replacement therapies, particularly dopamine agonists, cause ICDs, more recent, larger and better controlled studies indicate a more complicated picture. While dopamine replacement therapy use is related to ICDs, other vulnerabilities, some related to PD and/or its treatment directly and others seemingly unrelated to PD, have also been associated with ICDs in PD. This suggests a complex etiology with multiple contributing factors. As ICDs occur in a sizable minority of PD patients and can be associated with significant distress and impairment, further investigation is needed to identify factors that can predict who may be more likely to develop ICDs. Clinical implications are discussed and topics for future research are offered.

  16. Genetic recombination of the hepatitis C virus: clinical implications.

    Science.gov (United States)

    Morel, V; Fournier, C; François, C; Brochot, E; Helle, F; Duverlie, G; Castelain, S

    2011-02-01

    Genetic recombination is a well-known feature of RNA viruses that plays a significant role in their evolution. Although recombination is well documented for Flaviviridae family viruses, the first natural recombinant strain of hepatitis C virus (HCV) was identified as recently as 2002. Since then, a few other natural inter-genotypic, intra-genotypic and intra-subtype recombinant HCV strains have been described. However, the frequency of recombination may have been underestimated because not all known HCV recombinants are screened for in routine practice. Furthermore, the choice of treatment regimen and its predictive outcome remain problematic as the therapeutic strategy for HCV infection is genotype dependent. HCV recombination also raises many questions concerning its mechanisms and effects on the epidemiological and physiopathological features of the virus. This review provides an update on recombinant HCV strains, the process that gives rise to recombinants and clinical implications of recombination. © 2010 Blackwell Publishing Ltd.

  17. Irritable bowel syndrome: diagnostic approaches in clinical practice

    Directory of Open Access Journals (Sweden)

    Eugene J Burbige

    2010-09-01

    Full Text Available Eugene J BurbigeDivision of Gastroenterology, Gastrointestinal and Liver Research, John Muir Medical Center, Concord, CA, USABackground: Irritable bowel syndrome (IBS, a functional gastrointestinal disorder long considered a diagnosis of exclusion, has chronic symptoms that vary over time and overlap with those of non-IBS disorders. Traditional symptom-based criteria effectively identify IBS patients but are not easily applied in clinical practice, leaving >40% of patients to experience symptoms up to 5 years before diagnosis.Objective: To review the diagnostic evaluation of patients with suspected IBS, strengths and weaknesses of current methodologies, and newer diagnostic tools that can augment current symptom-based criteria.Methods: The peer-reviewed literature (PubMed was searched for primary reports and reviews using the limiters of date (1999–2009 and English language and the search terms irritable bowel syndrome, diagnosis, gastrointestinal disease, symptom-based criteria, outcome, serology, and fecal markers. Abstracts from Digestive Disease Week 2008–2009 and reference lists of identified articles were reviewed.Results: A disconnect is apparent between practice guidelines and clinical practice. The American Gastroenterological Association and American College of Gastroenterology recommend diagnosing IBS in patients without alarm features of organic disease using symptom-based criteria (eg, Rome. However, physicians report confidence in a symptom-based diagnosis without further testing only up to 42% of the time; many order laboratory tests and perform sigmoidoscopies or colonoscopies despite good evidence showing no utility for this work-up in uncomplicated cases. In the absence of diagnostic criteria easily usable in a busy practice, newer diagnostic methods, such as stool-form examination, fecal inflammatory markers, and serum biomarkers, have been proposed as adjunctive tools to aid in an IBS diagnosis by increasing physicians

  18. Clinical diagnostic criteria for typical and atypical variants of Rett syndrome in children

    Directory of Open Access Journals (Sweden)

    S. Ya. Volgina

    2016-01-01

    Full Text Available Rett Syndrome is one of the most socially significant neuropsychiatric hereditary diseases in children. This syndrome is mainly found in girls: its frequency is 1:10000–15000. Currently mutations in X-linked gene MESR2 considered as the main cause of the syndrome. Diagnosis of typical and atypical variants of the syndrome is based on the use of clinical criteria, determining gene mutations МЕСР2, CDKL5 and FOXG1. In 2010, the Expert Consortium for Rett syndrome have revised the existing diagnostic criteria for the syndrome and come to a new consensus. If there is a regression of mental development for the diagnosis of Rett syndrome exemplary embodiment only four basic criteria for the diagnosis of atypical variant — two of the four main criteria, and five of the eleven additional criteria. 

  19. Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

    International Nuclear Information System (INIS)

    Lacerda, L.S.; Alves, U.D.; Zanier, J.F.C.; Machado, D.C.; Camilo, G.B.; Machado, D.C.; Camilo, G.B.; Lopes, A.J.

    2014-01-01

    Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK)/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Made lung’s disease, and neurofibromatosis type I) and illustrated using cases from our institution. Because these syndromes have overlapping clinical manifestations and have no established genetic tests for their diagnosis, radiological methods are important contributors to the diagnosis of many of these syndromes. The correlation of genetic discoveries and molecular pathways that may contribute to the phenotypic expression is also of interest, as this may lead to potential therapeutic interventions

  20. A case of ultrasound-guided prenatal diagnosis of prune belly syndrome in Papua New Guinea--implications for management.

    Science.gov (United States)

    Ome, Maria; Wangnapi, Regina; Hamura, Nancy; Umbers, Alexandra J; Siba, Peter; Laman, Moses; Bolnga, John; Rogerson, Sheryle; Unger, Holger W

    2013-05-07

    Prune belly syndrome is a rare congenital malformation of unknown aetiology and is characterised by abnormalities of the urinary tract, a deficiency of abdominal musculature and bilateral cryptorchidism in males. We report a case of prune belly syndrome from Papua New Guinea, which was suspected on pregnancy ultrasound scan and confirmed upon delivery. A 26-year-old married woman, Gravida 3 Para 2, presented to antenatal clinic in Madang, Papua New Guinea, at 21(+5) weeks' gestation by dates. She was well with no past medical or family history of note. She gave consent to participate in a clinical trial on prevention of malaria in pregnancy and underwent repeated ultrasound examinations which revealed a live fetus with persistent megacystis and anhydramnios. Both mother and clinicians agreed on conservative management of the congenital abnormality. The mother spontaneously delivered a male fetus weighing 2010 grams at 34 weeks' gestation with grossly abnormal genitalia including cryptorchidism, penile aplasia and an absent urethral meatus, absent abdominal muscles and hypoplastic lungs. The infant passed away two hours after delivery. This report discusses the implications of prenatal detection of severe congenital abnormalities in PNG. This first, formally reported, case of prune belly syndrome from a resource-limited setting in the Oceania region highlights the importance of identifying and documenting congenital abnormalities. Women undergoing antenatal ultrasound examinations must be carefully counseled on the purpose and the limitations of the scan. The increasing use of obstetric ultrasound in PNG will inevitably result in a rise in prenatal detection of congenital abnormalities. This will need to be met with adequate training, referral mechanisms and better knowledge of women's attitudes and beliefs on birth defects and ultrasound. National medicolegal guidance regarding induced abortion and resuscitation of a fetus with severe congenital abnormalities may

  1. A case of ultrasound-guided prenatal diagnosis of prune belly syndrome in Papua New Guinea – implications for management

    Science.gov (United States)

    2013-01-01

    Background Prune belly syndrome is a rare congenital malformation of unknown aetiology and is characterised by abnormalities of the urinary tract, a deficiency of abdominal musculature and bilateral cryptorchidism in males. We report a case of prune belly syndrome from Papua New Guinea, which was suspected on pregnancy ultrasound scan and confirmed upon delivery. Case presentation A 26-year-old married woman, Gravida 3 Para 2, presented to antenatal clinic in Madang, Papua New Guinea, at 21+5 weeks’ gestation by dates. She was well with no past medical or family history of note. She gave consent to participate in a clinical trial on prevention of malaria in pregnancy and underwent repeated ultrasound examinations which revealed a live fetus with persistent megacystis and anhydramnios. Both mother and clinicians agreed on conservative management of the congenital abnormality. The mother spontaneously delivered a male fetus weighing 2010 grams at 34 weeks’ gestation with grossly abnormal genitalia including cryptorchidism, penile aplasia and an absent urethral meatus, absent abdominal muscles and hypoplastic lungs. The infant passed away two hours after delivery. This report discusses the implications of prenatal detection of severe congenital abnormalities in PNG. Conclusion This first, formally reported, case of prune belly syndrome from a resource-limited setting in the Oceania region highlights the importance of identifying and documenting congenital abnormalities. Women undergoing antenatal ultrasound examinations must be carefully counseled on the purpose and the limitations of the scan. The increasing use of obstetric ultrasound in PNG will inevitably result in a rise in prenatal detection of congenital abnormalities. This will need to be met with adequate training, referral mechanisms and better knowledge of women’s attitudes and beliefs on birth defects and ultrasound. National medicolegal guidance regarding induced abortion and resuscitation of a

  2. [Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].

    Science.gov (United States)

    Henningsen, Marie Krab; Jelsig, Anne Marie; Andersen, Helle; Brusgaard, Klaus; Ousager, Lilian Bomme; Hertz, Jens Michael

    2015-08-03

    Noonan syndrome is part of the group of RASopathies caused by germ line mutations in genes involved in the RAS/MAPK pathway. There is substantial phenotypic overlap among the RASopathies. Diagnosis of Noonan syndrome is often based on clinical features including dysmorphic facial features, short stature and congenital heart disease. Rapid advances in sequencing technology have made molecular genetic analyses a helpful tool in diagnosing and distinguishing Noonan syndrome from other RASopathies.

  3. Problems of early clinical diagnostics of pseudoexfoliation syndrome

    Directory of Open Access Journals (Sweden)

    A. Yu. Brezhnev

    2012-01-01

    Full Text Available Purpose: to study the informativeness of pseudoexfoliation syndrome (PES signs for early diagnosis improvement.Methods: 250 patients with PES were included in the study. Exclusion criteria consisted of aphakia, pseudophakia, previous eye surgery and diseases which can complicate PES diagnostics (uveitis, corneal pathology, ocular injury etc.. Each patient underwent complete ophthalmic examination, including slit-lamp examination under mydriasis, gonioscopy. Confocal microscopy was used as an additional diagnostic method in several patients (Confoscan-4, Nidek.Results: Pseudoexfoliation material was found at the pupillary margin in 64.8% of patients, and on the lens capsule (central disc in 71% of the test subjects. Peripheral depositions were present in almost all PES patients under mydriasis. Pupil dilation has been allowed to establish the diagnosis of PES additionally in 16% of patients. At the «mini-PES»-stage PES material was most frequently found in the superior-nasal quadrant of lens capsule (85.6%. Clinical asymmetry of several signs (pupil diameter, anterior chamber angle pigmentation, IOP level should be taken into consideration in early PES diagnostics.Conclusion: Examination under mydriasis and knowledge of PES micro-signs in some cases has been allowed to suspect PESeven at the preclinical stage.

  4. Clinical Analysis of 42 Cases of Ocular Ischemic Syndrome

    Directory of Open Access Journals (Sweden)

    Jingyi Luo

    2018-01-01

    Full Text Available Ocular ischemic syndrome (OIS is a severe ocular disease caused by ocular hypoperfusion due to stenosis or occlusion of the common or internal carotid arteries. OIS is easily misdiagnosed or undiagnosed given its asymptomatic onset and complicated ocular manifestations. The present study reviewed 42 patients with OIS, including 30 males (71.43%, 29 older patients (69.05%, >61 yrs, and 35 patients (83.33% with two or more systemic diseases. Only 6 patients had ocular symptoms as the initial signs upon visiting the Department of Ophthalmology of three hospitals (the First Affiliated Hospital, Sun Yat-sen University; Zhongshan Ophthalmic Center, Sun Yat-sen University; and the Second Affiliated Hospital, Guangzhou Medical University. The ocular symptoms varied from visual deterioration to periorbital pain. Thirty-seven patients (88.10% complained of constitutional symptoms. Ocular manifestations were diverse and involved both anterior and posterior segments. We reported a case of corneal edema and corneal epithelium erosion in the ipsilateral eye due to internal carotid artery stenosis. As the clinical manifestations of OIS are complex, ophthalmologists must carefully examine patients to avoid a misdiagnosis or a failure to diagnose. The management of OIS requires cooperation with cardiologists and neurologists.

  5. Neonatal staphylococcal scalded skin syndrome: clinical and outbreak containment review.

    LENUS (Irish Health Repository)

    Neylon, Orla

    2012-01-31

    Staphylococcal scalded skin syndrome (SSSS) is a toxin-mediated exfoliating skin condition predominated by desquamation and blistering. Neonatal outbreaks have already been reported; however, our outbreak highlights the potential for SSSS following neonatal health promotion measures such as intra-muscular vitamin K administration and metabolic screening (heel prick) as well as effective case containment measures and the value of staff screening. Between February and June 2007, five confirmed cases of neonatal SSSS were identified in full-term neonates born in an Irish regional maternity hospital. All infants were treated successfully. Analysis of contact and environmental screening was undertaken, including family members and healthcare workers. Molecular typing on isolates was carried out. An outbreak control team (OCT) was assembled and took successful prospective steps to prevent further cases. All five Staphylococcus aureus isolates tested positive for exfoliative toxin A, of which two distinct strains were identified on pulsed-field gel electrophoresis analysis. Two cases followed staphylococcal inoculation during preventive measures such as intra-muscular vitamin K administration and metabolic screening (heel prick). None of the neonatal isolates were methicillin resistant. Of 259 hospital staff (70% of staff) screened, 30% were colonised with S. aureus, and 6% were positive for MRSA carriage. This is the first reported outbreak of neonatal SSSS in Ireland. Effective case containment measures and clinical value of OCT is demonstrated. Results of staff screening underlines the need for vigilance and compliance in hand disinfection strategies in maternity hospitals especially during neonatal screening and preventive procedures.

  6. Clinical disease characteristics according to karyotype in Turner syndrome

    Directory of Open Access Journals (Sweden)

    Chae Young Yeo

    2010-02-01

    Full Text Available Purpose : Turner syndrome (TS is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems. Results : The distribution of karyotype was 45,X (47.8%, mosaic pattern (34.4% and structural aberration group (17.8 %. Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%, cardiovascular anomalies (18.6%, thyroid disorders (9.3% and auditory problems (11.6%. Mosaic group had renal anomalies (3.2%, thyroid disorders (12.9%, no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%, thyroid disorders (12.5% and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P=0.025. Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

  7. Growth hormone receptor deficiency (Laron syndrome): clinical and genetic characteristics.

    Science.gov (United States)

    Guevara-Aguirre, J; Rosenbloom, A L; Vaccarello, M A; Fielder, P J; de la Vega, A; Diamond, F B; Rosenfeld, R G

    1991-01-01

    Approximately 60 cases of GHRD (Laron syndrome) were reported before 1990 and half of these were from Israel. We have described 47 additional patients from an inbred population of South Ecuador and have emphasized certain clinical features including: markedly advanced osseous maturation for height age; normal body proportions in childhood but child-like proportions in adults; much greater deviation of stature than head size, giving an appearance of large cranium and small facies; underweight in childhood despite the appearance of obesity and true obesity in adulthood; blue scleras; and limited elbow extension. The Ecuadorean patients differed markedly and most importantly from the other large concentration, in Israel, by being of normal or superior intelligence, suggesting a unique linkage in the Ecuadorean population. The Ecuadorean population also differed in that those patients coming from Loja province had a markedly skewed sex ratio (19 females: 2 males), while those from El Oro province had a normal sex distribution (14 females: 12 males). The phenotypic similarity between the El Oro and Loja patients indicates that this abnormal sex distribution is not a direct result of the GHRD.

  8. An introduction to the clinical phenomenology of Tourette syndrome.

    Science.gov (United States)

    Martino, Davide; Madhusudan, Namrata; Zis, Panagiotis; Cavanna, Andrea E

    2013-01-01

    Tourette syndrome (TS) is the primary tic disorder that reaches most commonly medical attention and monitoring, with an estimated prevalence close to 1% between 5 and 18 years of age. Motor and phonic tics are the core features of TS. In addition to their well-characterized phenomenology, tics display a peculiar variability over time, which is strongly influenced by a variety of contextual factors. The sensory phenomena of TS are increasingly recognized as another crucial symptom of TS and consist of premonitory urges and somatic hypersensitivity. A relevant proportion of patients with TS display complex, tic-like, repetitive behaviors that include echophenomena, coprophenomena, and nonobscene socially inappropriate behaviors (NOSIBs). The burden of behavioral comorbidities is very important in determining the degree of disability of TS patients. Only a small minority of TS patients presents exclusively with a tic disorder. Obsessive-compulsive symptoms and related disorder (OCD) are common in TS, and the clinical distinction between compulsions and complex tics may be difficult in some cases. Probably, the presence of comorbid attention deficit hyperactivity disorder (ADHD) is the main determinant of cognitive dysfunction in TS patients and influences heavily also the risk of developing disruptive behaviors. Affective disorders, impulse control disorders, autism spectrum disorders, and personality disorders complete the wide psychopathological spectrum of this condition, but have been less investigated than OCD and ADHD. The complexity of the Tourette spectrum has been confirmed by cluster and factor analytical approaches, and is likely to inform the study of the genetic basis of this disorder, as well as future reappraisal of its nosography, with the development of novel clinical subtypes. © 2013 Elsevier Inc. All rights reserved.

  9. [Anaesthetic-induced myocardial preconditioning: fundamental basis and clinical implications].

    Science.gov (United States)

    Chiari, P; Bouvet, F; Piriou, V

    2005-04-01

    Volatile halogenated anaesthetics offer a myocardial protection when they are administrated before a myocardial ischaemia. Cellular mechanisms involved in anaesthetic preconditioning are now better understood. The objectives of this review are to understand the anaesthetic-induced preconditioning underlying mechanisms and to know the clinical implications. References were obtained from PubMed data bank (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi) using the following keywords: volatile anaesthetic, isoflurane, halothane, sevoflurane, desflurane, preconditioning, protection, myocardium. Ischaemic preconditioning (PC) is a myocardial endogenous protection against ischaemia. It has been described as one or several short ischaemia before a sustained ischemia. These short ischaemia trigger a protective signal against this longer ischaemia. An ischemic organ is able to precondition a remote organ. It is possible to replace the short ischaemia by a preadministration of halogenated volatile anaesthetic with the same protective effect, this is called anaesthetic PC (APC). APC and ischaemic PC share similar underlying biochemical mechanisms including protein kinase C, tyrosine kinase activation and mitochondrial and sarcolemnal K(ATP) channels opening. All halogenated anaesthetics can produce an anaesthetic PC effect. Myocardial protection during reperfusion, after the long ischaemia, has been shown by successive short ischaemia or volatile anaesthetic administration, this is called postconditioning. Ischaemic PC has been described in humans in 1993. Clinical studies in human cardiac surgery have shown the possibility of anaesthetic PC with volatile anaesthetics. These studies have shown a decrease of postoperative troponin in patient receiving halogenated anaesthetics.

  10. Prescription opioid abuse, pain and addiction: clinical issues and implications.

    Science.gov (United States)

    Ling, Walter; Mooney, Larissa; Hillhouse, Maureen

    2011-05-01

    Prescription opioid misuse in the USA has increased over threefold since 1990 to epidemic proportions, with substantial increases in prescription opioid use also reported in other countries, such as Australia and New Zealand. The broad availability of prescription pain medications, coupled with public misconceptions about their safety and addictive potential, have contributed to the recent surge in non-medical use of prescription opioids and corresponding increases in treatment admissions for problems related to opioid misuse. Given competing pressures faced by physicians to both diagnose and treat pain syndromes and identify individuals at risk for addictive disorders, the use of opioids in the treatment of pain poses a significant clinical challenge. This paper reviews the interaction between pain and opioid addiction with a focus on clinical management issues, including risk factors for opioid dependence in patients with chronic pain and the use of assessment tools to identify and monitor at-risk individuals. Treatment options for opioid dependence and pain are reviewed, including the use of the partial µ agonist buprenorphine in the management of concurrent pain and opioid addiction. Physicians should strive to find a reasonable balance between minimising potential adverse effects of opioid medications without diminishing legitimate access to opioids for analgesia. The article discusses the need to identify methods for minimising risks and negative consequences associated with opioid analgesics and poses research directions, including the development of abuse-deterrent opioid formulations, genetic risk factors for opioid dependence and opioid-induced hyperalgesia as a potential target for medication therapy. © 2011 Australasian Professional Society on Alcohol and other Drugs.

  11. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

    DEFF Research Database (Denmark)

    Meeths, Marie; Bryceson, Yenan T; Rudd, Eva

    2010-01-01

    Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes...

  12. Secondary Diabetes Mellitus in Patients with Endogenous Cushing’s Syndrome - Clinical Characteristics at Diagnosis

    OpenAIRE

    Căpăţînă Cristina; Baciu Ionela; Greere Daniela; Caragheorgheopol Andra; Poiană Cătălina

    2018-01-01

    Background and aims. Endogenous Cushing’s syndrome is a rare disease associated with severe morbidity and increased mortality if untreated. Diabetes mellitus is a frequent initial complaint of these patients. Our aim was to investigate the clinical characteristics at the time of diagnosis in a cohort of patients with endogenous Cushing’s syndrome (CS).

  13. The glucagonoma syndrome and necrolytic migratory erythema : A clinical review

    NARCIS (Netherlands)

    van Beek, André P.; de Haas, Ellen R.M.; van Vloten, Willem A.; Lips, Cees J.M.; Roijers, Janine F.M.; Canninga-van Dijk, Marijke R.

    2004-01-01

    The glucagonoma syndrome is a rare disease in which a typical skin disorder, necrolytic migratory erythema, is often one of the first presenting symptoms. Weight loss and diabetes mellitus are two other prevalent characteristics of this syndrome. Necrolytic migratory erythema belongs to the recently

  14. Thrombocytopenia-absent radius syndrome: a clinical genetic study.

    NARCIS (Netherlands)

    Greenhalgh, K.L.; Howell, R.; Bottani, A.; Ancliff, P.J.; Brunner, H.G.; Verschuuren-Bemelmans, C.C.; Vernon, E.; Brown, K.W.; Newbury-Ecob, R.

    2002-01-01

    The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to

  15. Thrombocytopenia-absent radius syndrome : a clinical genetic study

    NARCIS (Netherlands)

    Greenhalgh, KL; Howell, RT; Bottani, A; Ancliff, PJ; Brunner, HG; Verschuuren-Bemelmans, CC; Vernon, E; Brown, KW; Newbury-Ecob, RA

    2002-01-01

    The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to

  16. Frey's syndrome - unusually long delayed clinical onset post ...

    African Journals Online (AJOL)

    cqq1a

    2010-04-07

    Apr 7, 2010 ... Frey's syndrome is a complication of parotidectomy that is thought to occur as a result of aberrant regeneration of the postganglionic parasympathetic nerve fibres supplying the parotid gland to severed ostganglionic sympathetic fibres which innervate the sweat glands of the face. Frey's syndrome is.

  17. Clinical Implications of Changing Parameters on an Elliptical Trainer.

    Science.gov (United States)

    Kaplan, Yonatan; Nyska, Meir; Palmanovich, Ezequiel; Shanker, Rebecca

    2014-06-01

    Specific weightbearing instructions continue to be a part of routine orthopaedic clinical practice on an injured or postoperative extremity. Researchers and clinicians have struggled to define the best weightbearing strategies to maximize clinical outcomes. To investigate the average percentage body weight (APBW) values, weightbearing distribution percentages (WBDP), and cadence values on the entire foot, hindfoot, and forefoot during changing resistance and incline on an elliptical trainer, as well as to suggest clinical implications. Descriptive laboratory study. An original research study was performed consisting of 30 asymptomatic subjects (mean age, 29.54 ± 12.64 years; range, 21-69 years). The protocol included 3 consecutive tests of changing resistance and incline within a speed range of 70 to 95 steps/min. The SmartStep weightbearing gait analysis system was utilized to measure the values. The APBW values for the entire foot ranged between 70% and 81%, the hindfoot values were between 27% and 57%, and the forefoot values between 42% and 70%. With regard to WBDP, the forefoot remained planted on the pedal (stance phase) 2 to 3 times more as compared with the hindfoot raise in the swing phase. The study findings highlight the fact that elliptical training significantly reduces weightbearing in the hindfoot, forefoot, and entire foot even at higher levels of resistance and incline. Weightbearing on the hindfoot consistently displayed the lowest weightbearing values. Orthopaedic surgeons, now equipped with accurate weightbearing data, may recommend using the elliptical trainer as a weightbearing exercise early on following certain bony or soft tissue pathologies and lower limb surgical procedures.

  18. Myalgic Encephalomyelitis, Chronic Fatigue Syndrome, and Systemic Exertion Intolerance Disease: Three Distinct Clinical Entities

    Directory of Open Access Journals (Sweden)

    Frank N.M. Twisk

    2018-04-01

    Full Text Available Many researchers consider chronic fatigue syndrome (CFS to be a synonym of Myalgic Encephalomyelitis (ME. However, the case criteria of ME and CFS define two distinct clinical entities. Although some patients will meet both case criteria, other patients can meet the diagnosis of ME and not fulfil the case criteria for CFS, while the diagnosis of CFS is largely insufficient to be qualified as a ME patient. ME is a neuromuscular disease with distinctive muscular symptoms, including prolonged muscle weakness after exertion, and neurological signs implicating cerebral dysfunction, including cognitive impairment and sensory symptoms. The only mandatory symptom of CFS is chronic fatigue. Chronic fatigue must be accompanied by at least four out of eight nonspecific symptoms: substantial impairment in short-term memory or concentration, a sore throat, tender lymph nodes, muscle pain, multijoint pain, a new type of headaches, unrefreshing sleep, and postexertional “malaise” lasting more than 24 h. So, regardless whether the name ME is appropriate or not, ME is not synonymous to CFS. That is not a matter of opinion, but a matter of definition. Due to the definitions of ME and CFS, “ME/CFS” does not exist and cannot be replaced by a new clinical entity (SEID: Systemic Exertion Intolerance Disease, as recently suggested.

  19. Nakalanga Syndrome: Clinical Characteristics, Potential Causes, and Its Relationship with Recently Described Nodding Syndrome.

    Directory of Open Access Journals (Sweden)

    Kathrin Föger

    2017-02-01

    Full Text Available Nakalanga syndrome is a condition that was described in Uganda and various other African countries decades ago. Its features include growth retardation, physical deformities, endocrine dysfunction, mental impairment, and epilepsy, amongst others. Its cause remains obscure. Nodding syndrome is a neurological disorder with some features in common with Nakalanga syndrome, which has been described mainly in Uganda, South Sudan, and Tanzania. It has been considered an encephalopathy affecting children who, besides head nodding attacks, can also present with stunted growth, delayed puberty, and mental impairment, amongst other symptoms. Despite active research over the last years on the pathogenesis of Nodding syndrome, to date, no convincing single cause of Nodding syndrome has been reported. In this review, by means of a thorough literature search, we compare features of both disorders. We conclude that Nakalanga and Nodding syndromes are closely related and may represent the same condition. Our findings may provide new directions in research on the cause underlying this neurological disorder.

  20. The down syndrome behavioral phenotype: implications for practice and research in occupational therapy.

    Science.gov (United States)

    Daunhauer, Lisa A; Fidler, Deborah J

    2011-01-01

    ABSTRACT Down syndrome (DS) is the most common chromosomal cause of intellectual disability. The genetic causes of DS are associated with characteristic outcomes, such as relative strengths in visual-spatial skills and relative challenges in motor planning. This profile of outcomes, called the DS behavioral phenotype, may be a critical tool for intervention planning and research in this population. In this article, aspects of the DS behavioral phenotype potentially relevant to occupational therapy practice are reviewed. Implications and challenges for etiology-informed research and practice are discussed.

  1. Subchondral Bone and the Osteochondral Unit: Basic Science and Clinical Implications in Sports Medicine.

    Science.gov (United States)

    Saltzman, Bryan M; Riboh, Jonathan C

    2018-06-01

    Articular cartilage injuries and early osteoarthritis are among the most common conditions seen by sports medicine physicians. Nonetheless, treatment options for articular degeneration are limited once the osteoarthritic cascade has started. Intense research is focused on the use of biologics, cartilage regeneration, and transplantation to help maintain and improve cartilage health. An underappreciated component of joint health is the subchondral bone. A comprehensive, nonsystematic review of the published literature was completed via a PubMed/MEDLINE search of the keywords "subchondral" AND "bone" from database inception through December 1, 2016. Clinical review. Level 4. Articles collected via the database search were assessed for the association of bone marrow lesions and osteoarthritis, cartilage regeneration, and ligamentous and meniscal injury; the clinical disorder known as painful bone marrow edema syndrome; and the subchondral bone as a target for medical and surgical intervention. A complex interplay exists between the articular cartilage of the knee and its underlying subchondral bone. The role of subchondral bone in the knee is intimately related to the outcomes from cartilage restoration procedures, ligamentous injury, meniscal pathology, and osteoarthritis. However, subchondral bone is often neglected when it should be viewed as a critical element of the osteochondral unit and a key player in joint health. Continued explorations into the intricacies of subchondral bone marrow abnormalities and implications for the advent of procedures such as subchondroplasty will inform further research efforts on how interventions aimed at the subchondral bone may provide durable options for knee joint preservation.

  2. Clinical Observation of a Child with KID (Keratitis-Ichthyosis-Deafness Syndrome

    Directory of Open Access Journals (Sweden)

    V.A. Klymenko

    2015-09-01

    Full Text Available A clinical case of keratitis-ichthyosis-deafness (KID syndrome in an infant is described. The article familia-rizes pediatricians and family doctors with difficulties in the diagnosis of this rare genetic disease in infants.

  3. Are personality patterns and clinical syndromes associated with patients' motives and perceived outcome of orthognathic surgery?

    DEFF Research Database (Denmark)

    Petersen, Jesper Øland; Jensen, John; Melsen, Birte

    2010-01-01

    A study of surgical-orthodontic patients was performed to assess whether signs of personality patterns and psychologically defined clinical syndromes influenced patients' motives for treatment, perceived oral function, self-concept, social interaction, and overall satisfaction with treatment....

  4. The epigenomics of polycystic ovarian syndrome: from pathogenesis to clinical manifestations

    DEFF Research Database (Denmark)

    Li, Shuxia; Zhu, Dongyi; Duan, Hongmei

    2016-01-01

    Polycystic ovarian syndrome (PCOS) is a complex condition of ovarian dysfunction and metabolic abnormalities with widely varying clinical manifestations resulting from interference of the genome and the environment through integrative biological mechanisms with the emerging field of epigenetics...

  5. Important clinical descriptors to include in the examination and assessment of patients with femoroacetabular impingement syndrome

    DEFF Research Database (Denmark)

    Reiman, M P; Thorborg, K; Covington, K

    2017-01-01

    PURPOSE: Determine which examination findings are key clinical descriptors of femoroacetabular impingement syndrome (FAIS) through use of an international, multi-disciplinary expert panel. METHODS: A three-round Delphi survey utilizing an international, multi-disciplinary expert panel operationally...

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

    Science.gov (United States)

    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. INHERITED PATHOLOGY OF β2-LAMININ (PIERSON SYNDROME: CLINICAL AND GENETIC ASPECTS

    Directory of Open Access Journals (Sweden)

    M.Yu. Kagan

    2010-01-01

    Full Text Available For the last decade a great successes were attained in the study of molecular bases of glomerular diseases. It was certain that the most frequent reasons of congenital and infantile nephrotic syndrome are mutations in the genes of NPHS1, NPHS2, and WT1. Nevertheless, until now, a number of patients, having combination of early nephrotic syndrome with inherent pathology of other organs, which etiology remains un known. These cases continue to be intensively probed. One of the most important recent achievements in understanding of molecular mechanisms of early nephrotic syndrome is the discovery of mutations of gene of LAMB2, encoding β2 laminin, as the cause of Pearson syndrome (OMIM#609049. In this article the author presents the basic genetic and clinical descriptions of this recently identified pathology. Key words: Pearson syndrome, congenital nephrotic syndrome, β2 laminin, malformation of organ of vision. (Pediatric Pharmacology. – 2010; 7(3:114-117

  8. COMPLEX REGIONAL PAIN SYNDROMECLINIC, DIAGNOSTICS, TREATMENT

    Directory of Open Access Journals (Sweden)

    N. A. Shostak

    2014-07-01

    Full Text Available The problem of pain today remains one of the fundamental issues of medical care. It is known that the pain is the leading cause of treatmentto the doctor. Among pain syndromes, a special place belongs to the complex regional pain syndromes. They are distinguished by the multidisciplinary problem, the presence of explicit nature of the pain, difficulty of diagnosis and nature of the treatment. The article presentsmodern data on the diagnosis and treatment of the complex regional pain syndromes.

  9. COMPLEX REGIONAL PAIN SYNDROMECLINIC, DIAGNOSTICS, TREATMENT

    Directory of Open Access Journals (Sweden)

    N. A. Shostak

    2013-01-01

    Full Text Available The problem of pain today remains one of the fundamental issues of medical care. It is known that the pain is the leading cause of treatmentto the doctor. Among pain syndromes, a special place belongs to the complex regional pain syndromes. They are distinguished by the multidisciplinary problem, the presence of explicit nature of the pain, difficulty of diagnosis and nature of the treatment. The article presentsmodern data on the diagnosis and treatment of the complex regional pain syndromes.

  10. EEC syndrome sans clefting: Variable clinical presentations in a family

    Directory of Open Access Journals (Sweden)

    Thakkar Sejal

    2007-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly, epiphora, hair changes and deafness with variable involvement in each family member.

  11. [Clinical analysis of metabolic syndrome in vertiginous diseases].

    Science.gov (United States)

    Yamanaka, Toshiaki; Fukuda, Takehiko; Sawai, Yachiyo; Shirota, Shiho; Shimizu, Naoki; Murai, Takayuki; Okamoto, Hideyuki; Fujita, Nobuya; Hosoi, Hiroshi

    2011-01-01

    To explore the relationship between metabolic syndrome and vertigo, we measured waist circumference, plasma glucose, triglycerides and blood pressure in 333 subjects aged 20-79 years with vertigo. We found overall metabolic syndrome prevalence defined by Japanese diagnostic criteria to be 13.2%, similar to that in other national surveys by the Japanese Ministry of Health, Labour and Welfare. The 6-fold higher prevalence in men over women exceeded that of other reports, however. The highest frequency was in vertebrobasilar insufficiency (VBI) disorders, suggesting that conditions such as VBI in men with vertigo could involve metabolic syndrome as a risk factor for vertigo incidence.

  12. Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome

    Science.gov (United States)

    Akahira-Azuma, Moe; Tsurusaki, Yoshinori; Enomoto, Yumi; Mitsui, Jun; Kurosawa, Kenji

    2018-01-01

    We describe an 8-year-old Japanese boy with a de novo recurrent missense mutation in CSNK2A1, c.593A>G, that is causative of Okur–Chung neurodevelopmental syndrome. He exhibited distinctive facial features, severe growth retardation with relative macrocephaly, and friendly, hyperactive behavior. His dysmorphic features might suggest a congenital histone modification defect syndrome, such as Kleefstra, Coffin–Siris, or Rubinstein–Taybi syndromes, which are indicative of functional interactions between the casein kinase II, alpha 1 gene and histone modification factors. PMID:29619237

  13. A severe form of Crouzon's Syndrome: clinical and radiological correlation

    International Nuclear Information System (INIS)

    Abdallah, Ahmad M.

    2003-01-01

    Craniofacial dysostosis (Crouzon's syndrome) is a well defined, dominantly inherited disorder, described by Crouzon in 1912. It is characterized by several deformities involving the skull,face and eyes. This case report details a rare form of Crouzon's syndrome in which proptosis was so severe that globes were completely proptotic outside the patient's extremely shallow orbits, and the eyelids were undeveloped bilaterally and replaced by small folds of skin. It appears that this is the first report of such a severe form of Crouzon's syndrome. (author)

  14. [Wolfram syndrome: clinical and genetic analysis in two sisters].

    Science.gov (United States)

    Conart, J-B; Maalouf, T; Jonveaux, P; Guerci, B; Angioi, K

    2011-10-01

    Wolfram syndrome is a severe genetic disorder defined by the association of diabetes mellitus, optic atrophy, deafness, and diabetes insipidus. Two sisters complained of progressive visual loss. Fundus examination evidenced optic atrophy. Their past medical history revealed diabetes mellitus and deafness since childhood. The association of these symptoms made the diagnosis of Wolfram syndrome possible. It was confirmed by molecular analysis, which evidenced composite WFS1 heterozygous mutations inherited from both their mother and father. Ophthalmologists should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  15. Clinical features and endocrine profile of Laron syndrome in Indian children

    OpenAIRE

    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...

  16. Epidemiologic characteristics and military implications of hemorrhagic fever with renal syndrome in croatia.

    Science.gov (United States)

    Mulić, Rosanda; Ropac, Darko

    2002-10-01

    To analyze epidemiologic characteristics of hemorrhagic fever with renal syndrome in Croatia, including military implications of the disease and measures for its prevention. We analyzed data from obligatory infectious disease reports and notification of deaths due to infectious diseases, data on the hemorrhagic fever with renal syndrome epidemics in Croatia, and data collected by survey of the population, serological findings, and studies of wild rodents serving as reservoirs of the infection. During the 1987-2001 period, 235 cases of hemorrhagic fever with renal syndrome were recorded in Croatia, with 147 (62.6%) of them among Croatian Army soldiers. Mortality rate was up to 15.4% (mean 2.2%) (5/235). The highest number of cases was recorded in months of June and July, ie, during the warm season characterized by increased activity of both the animals acting as infection reservoirs and humans as hosts. The known natural foci of hemorrhagic fever with renal syndrome have been Plitvice and Slunj areas, Velika and Mala Kapela mountains, Zagreb area (Velika Gorica and Jastrebarsko), west Slavonia, Novska area, and Dinara Mountain. The disease has not been recorded in the littoral area and Adriatic islands. The identified causative agents include Dobrava and Puumala viruses of the genus Hantavirus, whereas rodents Clethrionomys glareolus, Apodemus flavicollis, Apodemus agrarius, and Apodemus sylvaticus serve as the main reservoirs of the infection. Typical biotopes of the infection in Croatia are deciduous woods. The measures of prevention in Croatia include pest control, disinfection, hygienic waste disposal, preventing rodent access to food and water, proper choice of camping sites, and health education. Hemorrhagic fever with renal syndrome occurs predominantly in soldiers, in a sporadic or epidemic form. Because of the course of disease and potentially lethal outcome, the disease has a considerable impact on the field task performance and combat readiness of

  17. Variability of CSF Alzheimer's disease biomarkers: implications for clinical practice.

    Directory of Open Access Journals (Sweden)

    Stephanie J B Vos

    Full Text Available BACKGROUND: Cerebrospinal fluid (CSF biomarkers are increasingly being used for diagnosis of Alzheimer's disease (AD. OBJECTIVE: We investigated the influence of CSF intralaboratory and interlaboratory variability on diagnostic CSF-based AD classification of subjects and identified causes of this variation. METHODS: We measured CSF amyloid-β (Aβ 1-42, total tau (t-tau, and phosphorylated tau (p-tau by INNOTEST enzyme-linked-immunosorbent assays (ELISA in a memory clinic population (n = 126. Samples were measured twice in a single or two laboratories that served as reference labs for CSF analyses in the Netherlands. Predefined cut-offs were used to classify CSF biomarkers as normal or abnormal/AD pattern. RESULTS: CSF intralaboratory variability was higher for Aβ1-42 than for t-tau and p-tau. Reanalysis led to a change in biomarker classification (normal vs. abnormal of 26% of the subjects based on Aβ1-42, 10% based on t-tau, and 29% based on p-tau. The changes in absolute biomarker concentrations were paralleled by a similar change in levels of internal control samples between different assay lots. CSF interlaboratory variability was higher for p-tau than for Aβ1-42 and t-tau, and reanalysis led to a change in biomarker classification of 12% of the subjects based on Aβ1-42, 1% based on t-tau, and 22% based on p-tau. CONCLUSIONS: Intralaboratory and interlaboratory CSF variability frequently led to change in diagnostic CSF-based AD classification for Aβ1-42 and p-tau. Lot-to-lot variation was a major cause of intralaboratory variability. This will have implications for the use of these biomarkers in clinical practice.

  18. Ethical, Legal, and Clinical Considerations when Disclosing a High-Risk Syndrome for Psychosis.

    Science.gov (United States)

    Mittal, Vijay A; Dean, Derek J; Mittal, Jyoti; Saks, Elyn R

    2015-10-01

    There are complex considerations when planning to disclose an attenuated psychosis syndrome (APS) diagnosis. In this review, we evaluate ethical, legal, and clinical perspectives as well as caveats related to full, non- and partial disclosure strategies, discuss societal implications, and provide clinical suggestions. Each of the disclosure strategies is associated with benefits as well as costs/considerations. Full disclosure promotes autonomy, allows for the clearest psychoeducation about additional risk factors, helps to clarify and/or correct previous diagnoses/treatments, facilitates early intervention and bolsters communication between providers but there are important considerations involving heritability, comorbidity, culture, and stigma. Non-disclosure advances nonmaleficence by limiting stigma and stress (which may inadvertently exacerbate the condition), and confusion (related to the rapidly evolving diagnosis) in a sensitive developmental period but is complicated by varying patient preferences and the possibility that, as new treatments without adverse effects become available, the risk with false positives no longer justifies the accompanying loss of autonomy. Partial disclosure balances ethical considerations by focusing on symptoms instead of labels, but evidence that laypersons may interpret this information as a pseudo-diagnosis and that symptoms alone also contribute to stigma limits the efficacy of this approach. In addition, there are notable societal considerations relating to disclosure involving conservatorship, the reach of insurance companies, and discrimination. We advocate a hybrid approach to disclosure and recommend future research aimed at understanding the effects of stigma on clinical course and a renewed focus on those help-seeking cases that do not transition but remain clinically relevant. © 2015 John Wiley & Sons Ltd.

  19. [Clinical picture of hemorrhagic fever with renal syndrome in Croatia].

    Science.gov (United States)

    Kuzman, Ilija

    2003-01-01

    Among many viral hemorrhagic fevers, only hemorrhagic fever with renal syndrome (HFRS) occurs in Croatia. HFRS is a natural focus zoonosis with sudden onset, characterized by high fever and other clinical symptoms, renal insufficiency and hemorrhages. In Croatia, HFRS is caused by two types of hantaviruses--Puumala (PUU) and Dobrava (DOB). The basic pathologic and patophysiologic disorder in HFRS is capillary damage (vasculitis). Incubation of HFRS has not been precisely determined, it is most frequently around two weeks. The disease onset is usually abrupt. At the beginning, general symptoms include high fever and myalgias, especially in the lumbar region, and abdominal pain, as well as strong headaches, malaise and nausea, and often vomiting or diarrhea. In half of the patients respiratory symptoms occur. Later on, some patients may experience hypotension, oliguria and other signs of renal failure, and apart from petechial, severe hemorrhages may also occur in other organs. During typical clinical presentation of the disease, some characteristic symptoms are clearly distinguished in particular stages of the disease. Therefore, the course of HFRS is usually divided into five distinct stages (febrile, hypotensive, oliguric, polyuric and convalescent). Such a course of the disease is more commonly present in case of DOB virus than PUU virus infection. The febrile stage with sudden onset usually lasts from 3 to 7 days, when thrombocytopenia and hemoconcentration, as well as albuminuria and hematuria are almost always recorded. The hypotensive stage lasts from one to 2 days on an average and is characterized by lower blood pressure and signs of renal failure. The oliguric stage usually starts at the beginning of the second week of the disease, when extensive hemorrhage may occur and urea and creatinine reach their highest values. The oliguric stage is followed by the polyuric stage which can last for up to two weeks, and is characterized by excretion of a large

  20. Clinical Evaluation of a Proposed New Gulf War Syndrome

    National Research Council Canada - National Science Library

    Levine, Paul

    2001-01-01

    Thus far, studies on Gulf War veterans have not defined any syndrome specific to deployed Gulf War veterans, but have only suggested that Persian Gulf War veterans have a higher frequency of a number...

  1. Multiple Autoimmune Syndromes Associated with Psoriasis: A Rare Clinical Presentation

    Directory of Open Access Journals (Sweden)

    Sadia Masood

    2014-03-01

    Full Text Available Autoimmune diseases are known to have association with each other but it is very rare to see multiple autoimmune diseases in one patient. The combination of at least three autoimmune diseases in the same patient is referred to as multiple autoimmune syndrome. The case we are reporting features multiple autoimmune syndrome with five different conditions. The patient had type 1 diabetes mellitus, autoimmune hemolytic anemia, systemic lupus erythematosus, vitiligo, and psoriasis. Psoriasis has rarely been reported previously under the spectrum of autoimmune syndrome. Although the relationship of autoimmune conditions with each other has been explored in the past, this case adds yet another dimension to the unique evolution of autoimmune pathologies. The patient presented with a combination of five autoimmune diseases, which makes it consistent type three multiple autoimmune syndromes with the addition of psoriasis. The current case is unique in this aspect that the combination of these five autoimmune disorders has never been reported in the past.

  2. Usher syndrome in Puerto Rico: a clinical and genetic study.

    Science.gov (United States)

    Colón-Casasnovas, Jaime E; Izquierdo, Natalio J; Millán, Jose M

    2010-01-01

    To evaluate patients with the Usher syn drome in Puerto Rico. Three patients with the Usher syndrome underwent an ophthalmic and audiologic evaluation; and genetic linkage analysis. All patients were legally blind based on visual acuity and visual field results. Two patients had macular edema as shown on Stratus OCT. All patients had moderate hearing loss as part of the syndrome. A patient, and two family members had three mutations leading to protein changes including: p.S4588Y; p.Y4505C; and p.14474M. Phenotypic findings in patients with the Usher syndrome in Puerto Rico are similar to those previously reported. However, to our knowledge, neither these mutations nor OCT findings have been previously described in patients with the syndrome.

  3. The development of human visual cortex and clinical implications

    Directory of Open Access Journals (Sweden)

    Siu CR

    2018-04-01

    Full Text Available Caitlin R Siu,1 Kathryn M Murphy1,2 1McMaster Integrative Neuroscience Discovery and Study (MiNDS Program, McMaster University, Hamilton, ON, Canada; 2Department of Psychology, Neuroscience & Behaviour, McMaster University, Hamilton, ON, Canada Abstract: The primary visual cortex (V1 is the first cortical area that processes visual information. Normal development of V1 depends on binocular vision during the critical period, and age-related losses of vision are linked with neurobiological changes in V1. Animal studies have provided important details about the neurobiological mechanisms in V1 that support normal vision or are changed by visual diseases. There is very little information, however, about those neurobiological mechanisms in human V1. That lack of information has hampered the translation of biologically inspired treatments from preclinical models to effective clinical treatments. We have studied human V1 to characterize the expression of neurobiological mechanisms that regulate visual perception and neuroplasticity. We have identified five stages of development for human V1 that start in infancy and continue across the life span. Here, we describe these stages, compare them with visual and anatomical milestones, and discuss implications for translating treatments for visual disorders that depend on neuroplasticity of V1 function. Keywords: development, human visual cortex, amblyopia, synaptic plasticity, glutamatergic, GABAergic, receptors

  4. The image schema and innate archetypes: theoretical and clinical implications.

    Science.gov (United States)

    Merchant, John

    2016-02-01

    Based in contemporary neuroscience, Jean Knox's 2004 JAP paper 'From archetypes to reflective function' honed her position on image schemas, thereby introducing a model for archetypes which sees them as 'reliably repeated early developmental achievements' and not as genetically inherited, innate psychic structures. The image schema model is used to illustrate how the analyst worked with a patient who began life as an unwanted pregnancy, was adopted at birth and as an adult experienced profound synchronicities, paranormal/telepathic phenomena and visions. The classical approach to such phenomena would see the intense affectivity arising out of a ruptured symbiotic mother-infant relationship constellating certain archetypes which set up the patient's visions. This view is contrasted with Knox's model which sees the archetype an sich as a developmentally produced image schema underpinning the emergence of later imagery. The patient's visions can then be understood to arise from his psychoid body memory related to his traumatic conception and birth. The contemporary neuroscience which supports this view is outlined and a subsequent image schema explanation is presented. Clinically, the case material suggests that a pre-birth perspective needs to be explored in all analytic work. Other implications of Knox's image schema model are summarized. © 2016, The Society of Analytical Psychology.

  5. Clinical implications of microRNAs in human glioblastoma

    Directory of Open Access Journals (Sweden)

    Masahiro eMizoguchi

    2013-02-01

    Full Text Available Glioblastoma (GBM is one of the most common and dismal brain tumors in adults. Further elucidation of the molecular pathogenesis of GBM is mandatory to improve the overall survival of patients. A novel small non-coding RNA molecule, microRNA (miRNA, appears to represent one of the most attractive target molecules contributing to the pathogenesis of various types of tumors. Recent global analyses have revealed that several miRNAs are clinically implicated in GBM, with some reports indicating the association of miRNA dysregulation with acquired temozolomide (TMZ resistance. More recent studies have revealed that miRNAs could play a role in cancer stem cell (CSC properties, contributing to treatment resistance. In addition, greater impact might be expected from miRNA-targeted therapies based on tumor-derived exosomes that contain numerous functional miRNAs, which could be transferred between tumor cells and surrounding structures. Tumor-derived miRNAs are now considered to be a novel molecular mechanism promoting the progression of GBM. Establishment of miRNA-targeted therapies based on miRNA dysregulation of CSCs could provide effective therapeutic strategies for TMZ-resistant GBM. Recent progress has revealed that miRNAs are not only putative biological markers for diagnosis, but also one of the most promising targets for GBM treatment. Herein, we summarize the translational aspects of miRNAs in the diagnosis and treatment of GBM.

  6. Hypertensive response to exercise: mechanisms and clinical implication.

    Science.gov (United States)

    Kim, Darae; Ha, Jong-Won

    2016-01-01

    A hypertensive response to exercise (HRE) is frequently observed in individuals without hypertension or other cardiovascular disease. However, mechanisms and clinical implication of HRE is not fully elucidated. Endothelial dysfunction and increased stiffness of large artery contribute to development of HRE. From neurohormonal aspects, excess stimulation of sympathetic nervous system and augmented rise of angiotensin II seems to be important mechanism in HRE. Increasing evidences indicates that a HRE is associated with functional and structural abnormalities of left ventricle, especially when accompanied by increased central blood pressure. A HRE harbors prognostic significance in future development of hypertension and increased cardiovascular events, particularly if a HRE is documented in moderate intensity of exercise. As supported by previous studies, a HRE is not a benign phenomenon, however, currently, whether to treat a HRE is controversial with uncertain treatment strategy. Considering underlying mechanisms, angiotensin receptor blockers and beta blockers can be suggested in individuals with HRE, however, evidences for efficacy and outcomes of treatment of HRE in individuals without hypertension is scarce and therefore warrants further studies.

  7. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

    Science.gov (United States)

    El-Hattab, Ayman W; Adesina, Adekunle M; Jones, Jeremy; Scaglia, Fernando

    2015-01-01

    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature. The most common mutation associated with MELAS syndrome is the m.3243A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNA(Leu(UUR)). The m.3243A>G mutation results in impaired mitochondrial translation and protein synthesis including the mitochondrial electron transport chain complex subunits leading to impaired mitochondrial energy production. The inability of dysfunctional mitochondria to generate sufficient energy to meet the needs of various organs results in the multi-organ dysfunction observed in MELAS syndrome. Energy deficiency can also stimulate mitochondrial proliferation in the smooth muscle and endothelial cells of small blood vessels leading to angiopathy and impaired blood perfusion in the microvasculature of several organs. These events will contribute to the complications observed in MELAS syndrome particularly the stroke-like episodes. In addition, nitric oxide deficiency occurs in MELAS syndrome and can contribute to its complications. There is no specific consensus approach for treating MELAS syndrome. Management is largely symptomatic and should involve a multidisciplinary team. Unblinded studies showed that l-arginine therapy improves stroke-like episode symptoms and decreases the frequency and severity of these episodes. Additionally, carnitine and coenzyme Q10 are commonly used in MELAS syndrome without proven efficacy. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Clinical implications of glycometabolic disturbances in acute coronary

    NARCIS (Netherlands)

    Timmer, Jorik Rudolf

    2005-01-01

    Prevalence of glycometabolic disturbances in patients with a suspected acute coronary syndrome is high. One in three patients has signs of disturbed glucose metabolism and this condition is associated with previous or newly diagnosed coronary artery disease. Zie: Summary

  9. Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

    Science.gov (United States)

    Castori, Marco

    2015-12-01

    Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues. It is usually ascertained due to abnormal skin texture, scarring complications, vascular fragility, or chronic symptoms, such as fatigue and musculoskeletal pain. Sometimes, Ehlers-Danlos syndrome remains undetected until the patient, usually in the pediatric age, shows extensive or severe mucocutaneous injuries after only minor traumas. In this scenario, the misdiagnosis of Ehlers-Danlos syndrome with child abuse is a possibility, as occasionally reported in the literature. Recently, more attention was posed by lay people between the possible association of Ehlers-Danlos syndrome and bone fragility. Literature and personal experience show a strong association between Ehlers-Danlos syndrome, generalized joint hypermobility and reduced bone mass density in older children and adults, especially fertile women. The existence of a true increased risk of fracture in Ehlers-Danlos syndrome is still a matter of debate in children and adults with little and conflicting evidence. In case of suspected child abuse, Ehlers-Danlos syndrome is certainly on the differential for bruising, especially in EDS types with marked cutaneous and capillary involvement. In suspected child abuse cases, careful examination of the index case and her/his extended family is routine, as well as exclusion of other disorders such as osteogenesis imperfecta. The hypothesis of Ehlers-Danlos syndrome as an alternative explanation for infantile fractures remains speculative. © 2015 Wiley Periodicals, Inc.

  10. The Rare Painful Phenomena - Chronic Paroxysmal Hemicrania-tic Syndrome as a Clinically Isolated Syndrome of the Central Nervous System.

    Science.gov (United States)

    Ljubisavljevic, Srdjan; Prazic, Ana; Lazarevic, Miodrag; Stojanov, Dragan; Savic, Dejan; Vojinovic, Slobadan

    2017-02-01

    The association of paroxysmal hemicrania with trigeminal neuralgia (TN) has been described and called paroxysmal hemicrania-tic syndrome (PH-tic). We report the case of a patient diagnosed as having chronic PH-tic (CPH-tic) syndrome as a clinically isolated syndrome of the central nervous system (CNS) (CIS).A forty year old woman was admitted to our hospital suffering from right facial pain for the last 2 years. The attacks were paroxysmal, neuralgiform, consisting of throb-like sensations, which developed spontaneously or were triggered by different stimuli in right facial (maxilar and mandibular) areas. Parallel with those, she felt a throbbing orbital and frontal pain with homolateral autonomic symptoms such as conjunctival injection, lacrimation, and the feeling that the ear on the same side was full. This pain lasted most often between 15 and 20 minutes. Beyond hemifacial hypoesthesia in the region of right maxilar and mandibular nerve, the other neurological finding was normal. Magnetic resonance imaging (MRI) study showed a T2-weighted multiple hyperintense paraventricular lesion and hyperintense lesion in the right trigeminal main sensory nucleus and root inlet, all of them being hypointense on T1-weighted image. All of these lesions were hypointense in gadolinium-enhanced T1-weighted images. Neurophysiological studies of trigeminal nerve (somatosensory evoked potentials and blink reflex) correlated with MRI described lesions. The patient's pain bouts were improved immediately after treatment with indomethacin, and were completely relieved with lamotrigine for a longer period. According to the actual McDonald's criteria, clinical state was defined as CIS which was clinically presented by CPH-tic syndrome.Even though it is a clinical rarity and its etiology is usually idiopathic, CPH-tic syndrome can also be symptomatic. When dealing with symptomatic cases, like the one described here, when causal therapy is not possible due to the nature of the primary

  11. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

    NARCIS (Netherlands)

    Reijnders, Margot R. F.; Janowski, Robert; Alvi, Mohsan; Self, Jay E.; van Essen, Ton J.; Vreeburg, Maaike; Rouhl, Rob P. W.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T. R. M.; Bok, Levinus A.; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E.; Douzgou, Sofia; Cooper, Nicola S.; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H. M.; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S.; Dowling, James J.; Lev, Dorit L.; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L.; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F.; Brunner, Han G.; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E.; Siu, Victoria Mok; Selber, Paulo; Leventer, Richard J.; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana

    2018-01-01

    Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives T o delineate the clinical spectrum of PURA syndrome and

  12. A clinical perspective of obesity, metabolic syndrome and cardiovascular disease

    Directory of Open Access Journals (Sweden)

    Thang S Han

    2016-02-01

    Full Text Available The metabolic syndrome is a condition characterized by a special constellation of reversible major risk factors for cardiovascular disease and type 2 diabetes. The main, diagnostic, components are reduced HDL-cholesterol, raised triglycerides, blood pressure and fasting plasma glucose, all of which are related to weight gain, specifically intra-abdominal/ectopic fat accumulation and a large waist circumference. Using internationally adopted arbitrary cut-off values for waist circumference, having metabolic syndrome doubles the risk of cardiovascular disease, but offers an effective treatment approach through weight management. Metabolic syndrome now affects 30–40% of people by age 65, driven mainly by adult weight gain, and by a genetic or epigenetic predisposition to intra-abdominal/ectopic fat accumulation related to poor intra-uterine growth. Metabolic syndrome is also promoted by a lack of subcutaneous adipose tissue, low skeletal muscle mass and anti-retroviral drugs. Reducing weight by 5–10%, by diet and exercise, with or without, anti-obesity drugs, substantially lowers all metabolic syndrome components, and risk of type 2 diabetes and cardiovascular disease. Other cardiovascular disease risk factors such as smoking should be corrected as a priority. Anti-diabetic agents which improve insulin resistance and reduce blood pressure, lipids and weight should be preferred for diabetic patients with metabolic syndrome. Bariatric surgery offers an alternative treatment for those with BMI ≥ 40 or 35–40 kg/m 2 with other significant co-morbidity. The prevalence of the metabolic syndrome and cardiovascular disease is expected to rise along with the global obesity epidemic: greater emphasis should be given to effective early weight-management to reduce risk in pre-symptomatic individuals with large waists.

  13. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.

    Science.gov (United States)

    Tinkle, Brad; Castori, Marco; Berglund, Britta; Cohen, Helen; Grahame, Rodney; Kazkaz, Hanadi; Levy, Howard

    2017-03-01

    The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  14. Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.

    Science.gov (United States)

    Ganie, M A; Laway, B A; Nisar, S; Wani, M M; Khurana, M L; Ahmad, F; Ahmed, S; Gupta, P; Ali, I; Shabir, I; Shadan, A; Ahmed, A; Tufail, S

    2011-11-01

    Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India. Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ±7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied. The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

  15. Metabolic syndrome and its characteristics among obese patients attending an obesity clinic.

    Science.gov (United States)

    Termizy, H M; Mafauzy, M

    2009-04-01

    The increased prevalence of metabolic syndrome worldwide is closely related to the rising obesity epidemic. The objectives of the study were to determine the prevalence and identify the associated and prognostic factors that influence the risk of metabolic syndrome among obese patients attending the Obesity Clinic at Hospital Universiti Sains Malaysia. A study was conducted involving 102 obese persons who attended the Obesity Clinic from January 1 to December 31, 2005. Metabolic syndrome was defined according to the International Diabetes Federation criteria. The overall prevalence of metabolic syndrome among obese patients was 40.2 percent. The prevalence was higher in females (43.7 percent) than in males (32.3 percent). The prevalence of metabolic syndrome was noted to increase with increasing body mass index class, from class 1 to class 2. However, the prevalence was lower in obesity class 3. The prevalence of metabolic comorbidities of raised blood pressure, reduced high density lipoprotein, high triglyceride and raised fasting blood glucose was 42, 40, 36 and 17 percent, respectively. A quarter of obese patients in this study had no other comorbidity. Based on logistic regression multivariable analysis, age was the only significant associated factor that influenced the risk of having metabolic syndrome. The prevalence of metabolic syndrome was high and the highest comorbidity was high blood pressure. Age was the only significant risk factor of having this syndrome.

  16. [Gorlin-Goltz syndrome: review of the neuroradiological and maxillofacial features illustrated with two clinical cases].

    Science.gov (United States)

    Safronova, Marta Maia; Arantes, Mavilde; Lima, Iva; Domingues, Sara; Almeida, Marta; Moniz, Pedro

    2010-01-01

    Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is a rare hereditary autosomal-dominant disorder characterized by multiple basal cell carcinomas in young patients, odontogenic keratocysts, palmar or plantar pits, calcification of the falx cerebri and skeletal malformations. This syndrome is due to mutations in PTCH1 (patched homolog 1 da Drosophila), a tumor suppressor gene. Diagnostic criteria were defined by Evans, revised by Kimonis and include major and minor criteria. The authors review in particular the neuroradiological and maxillofacial characteristics of the syndrome. The authors describe the clinical presentation of two children with Gorlin-Goltz syndrome without affected first degree relatives. In both the clinical suspicion of the syndrome is raised by the presence of multiple odontogenic cysts surgically removed. Histopathological exam revealed keratocysts. None of the patients has basal cell carcinomas but both present with skeletal anomalies, namely marked pectus deformity. The absence of major diagnostic criteria like basal cell carcinomas or palmar or plantar pits in young patients delay the early diagnosis and the correct screening for medulloblastoma, basal cell carcinomas and cardiac fibromas. Odontogenic keratocysts are the most consistent clinical finding in Gorlin-Goltz syndrome in the first one or two decades of life. These patients are very sensitive to ionizing radiation, being able to develop basal cell carcinomas and meningiomas. Treatment should accomplish the complete resection of the tumors.

  17. Down syndrome and moyamoya: clinical presentation and surgical management.

    Science.gov (United States)

    See, Alfred P; Ropper, Alexander E; Underberg, Daniel L; Robertson, Richard L; Scott, R Michael; Smith, Edward R

    2015-07-01

    OBJECT Moyamoya can cause cerebral ischemia and stroke in Down syndrome (DS) patients. In this study, the authors defined a surgically treated population of patients with DS and moyamoya and compared their clinical presentation, response to surgical treatment, and long-term prognosis with those of the general population of patients with moyamoya but without DS. METHODS This study was a retrospective review of a consecutive operative series of moyamoya patients with DS treated at Boston Children's Hospital from 1985 through 2012. RESULTS Thirty-two patients, average age 9.7 years (range 1.8-29.3 years), underwent surgery for moyamoya in association with DS. The majority presented with ischemic symptoms (87% stroke, 42% transient ischemic attacks). Twenty-four patients (75%) had congenital heart disease. Nineteen patients (59%) had bilateral moyamoya on presentation, and 13 presented with unilateral disease, of which 2 progressed to surgery on the opposite side at a later date. Patients were followed for a median of 7.5 years (1-20.2 years) after surgery, with no patients lost to follow-up. Follow-up arteriography demonstrated Matsushima Grade A collaterals in 29 of 39 (74%) hemispheres, Grade B in 5 (13%), and Grade C in 5 (13%). Complications included postoperative strokes in 2 patients, which occurred within 48 hours of surgery in both; one of these patients had arm weakness and the other confusion (both had recovered completely at follow-up). Seizures occurred in 5 patients perioperatively, including one who had a new seizure disorder related to hypocalcemia. CONCLUSIONS Moyamoya disease is a cause of stroke in patients with DS. Both the incidence of preoperative stroke (87% vs 67%) and the average age at diagnosis for children under age 21 (8.4 vs 6.5 years) were greater in patients with DS and moyamoya than in the general moyamoya surgical population, suggesting a possible delay in reaching a correct diagnosis of the cause of cerebral ischemia in the DS patient

  18. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Buchanan DD

    2014-10-01

    Full Text Available Daniel D Buchanan,1,2 Christophe Rosty,1,3,4 Mark Clendenning,1 Amanda B Spurdle,5 Aung Ko Win2 1Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, VIC, Australia; 2Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia; 3Envoi Specialist Pathologists, Herston, QLD, Australia; 4School of Medicine, University of Queensland, Herston, QLD, Australia; 5Molecular Cancer Epidemiology Laboratory, Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, QLD, AustraliaAbstract: Carriers of a germline mutation in one of the DNA mismatch repair (MMR genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome. MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the

  19. Prognostic implications of mutation-specific QTc standard deviation in congenital long QT syndrome.

    Science.gov (United States)

    Mathias, Andrew; Moss, Arthur J; Lopes, Coeli M; Barsheshet, Alon; McNitt, Scott; Zareba, Wojciech; Robinson, Jennifer L; Locati, Emanuela H; Ackerman, Michael J; Benhorin, Jesaia; Kaufman, Elizabeth S; Platonov, Pyotr G; Qi, Ming; Shimizu, Wataru; Towbin, Jeffrey A; Michael Vincent, G; Wilde, Arthur A M; Zhang, Li; Goldenberg, Ilan

    2013-05-01

    Individual corrected QT interval (QTc) may vary widely among carriers of the same long QT syndrome (LQTS) mutation. Currently, neither the mechanism nor the implications of this variable penetrance are well understood. To hypothesize that the assessment of QTc variance in patients with congenital LQTS who carry the same mutation provides incremental prognostic information on the patient-specific QTc. The study population comprised 1206 patients with LQTS with 95 different mutations and ≥ 5 individuals who carry the same mutation. Multivariate Cox proportional hazards regression analysis was used to assess the effect of mutation-specific standard deviation of QTc (QTcSD) on the risk of cardiac events (comprising syncope, aborted cardiac arrest, and sudden cardiac death) from birth through age 40 years in the total population and by genotype. Assessment of mutation-specific QTcSD showed large differences among carriers of the same mutations (median QTcSD 45 ms). Multivariate analysis showed that each 20 ms increment in QTcSD was associated with a significant 33% (P = .002) increase in the risk of cardiac events after adjustment for the patient-specific QTc duration and the family effect on QTc. The risk associated with QTcSD was pronounced among patients with long QT syndrome type 1 (hazard ratio 1.55 per 20 ms increment; P<.001), whereas among patients with long QT syndrome type 2, the risk associated with QTcSD was not statistically significant (hazard ratio 0.99; P = .95; P value for QTcSD-by-genotype interaction = .002). Our findings suggest that mutations with a wider variation in QTc duration are associated with increased risk of cardiac events. These findings appear to be genotype-specific, with a pronounced effect among patients with the long QT syndrome type 1 genotype. Copyright © 2013. Published by Elsevier Inc.

  20. Clinical radiation diagnostics of shoulder joint impingement syndrome

    International Nuclear Information System (INIS)

    Litvin, Yu.P.; Logvinenko, V.V.

    2014-01-01

    46 patients about an impingement are investigated by a syndrome of a humeral joint. Among them men was 28 (60,9 %) the person, women 18 (39,1 %). Middle age of the surveyed has made 52,6 ± 2,0 year. The traditional roentgenography is executed to all patients, a spiral computer tomography - 5 (10,9 %), an ultrasonography - 44 (95,7 %), a magnetic resonance imaging - 11 (23,9 %). Operative treatment is spent 16 (34,8 %) by the patient. Direct radial symptoms are what specify an impingement of a syndrome of a humeral joint in the reasons, indirect - symptoms of an inflammation both degenerate and dystrophic changes of structures of area of a humeral joint which are involved in pathological process. The best results are given by complex radial research at which it is possible to find out direct and indirect symptoms a syndrome impingement

  1. The radiological and clinical features of Gardner's syndrome

    International Nuclear Information System (INIS)

    Peters, P.E.; Gaebler, J.; Lingemann, B.; Ritter, W.; Muenster Univ.; Muenster Univ.

    1982-01-01

    Gardner's syndrome, completely expressed, consists of a trio of familial polyposis of the colon, osteomas and mesenchymal tumours of the skin. Inheritence is autosomal dominant. In many patients with familial polyposis of the colon, only mesenchymal skin tumours or osteomas can be demonstrated. It is therefore possible that Gardner's syndrome and familial polyposis represent two extremities of a single disease which is characterised by marked variability in the expressivity of the gene. Gardner's syndrome has been considered a rare condition occurring in only about 8% of patients with familial polyposis. Amongst the 20 patients with colonic polyposis from eleven families, mesenchymal and/or osseous lesions were found in seventeen (85%). Osteomas of the mandible were shown particularly frequently by orthopantomography. Since polyposis of the colon tends to remain symptomless for many years, the finding of oesteomas in the facial skeleton, or recurrent skin tumours in young patients, should lead to further investigation. (orig.) [de

  2. Proprioception: where are we now? A commentary on clinical assessment, changes across the life course, functional implications and future interventions.

    Science.gov (United States)

    Suetterlin, Karen Joan; Sayer, Avan Aihie

    2014-05-01

    Proprioception, the sense of where one is in space, is essential for effective interaction with the environment. A lack of or reduction in proprioceptive acuity has been directly correlated with falls and with reduced functional independence in older people. Proprioceptive losses have also been shown to negatively correlate with functional recovery post stroke and play a significant role in other conditions such as Parkinson's disease. However, despite its central importance to many geriatric syndromes, the clinical assessment of proprioception has remained remarkably static. We look at approaches to the clinical assessment of proprioception, changes in proprioception across the life course, functional implications of proprioception in health and disease and the potential for targeted interventions in the future such as joint taping, and proprioception-specific rehabilitation and footwear.

  3. Rethinking dry eye disease: a perspective on clinical implications.

    Science.gov (United States)

    Bron, Anthony J; Tomlinson, Alan; Foulks, Gary N; Pepose, Jay S; Baudouin, Christophe; Geerling, Gerd; Nichols, Kelly K; Lemp, Michael A

    2014-04-01

    Publication of the DEWS report in 2007 established the state of the science of dry eye disease (DED). Since that time, new evidence suggests that a rethinking of traditional concepts of dry eye disease is in order. Specifically, new evidence on the epidemiology of the disease, as well as strategies for diagnosis, have changed the understanding of DED, which is a heterogeneous disease associated with considerable variability in presentation. These advances, along with implications for clinical care, are summarized herein. The most widely used signs of DED are poorly correlated with each other and with symptoms. While symptoms are thought to be characteristic of DED, recent studies have shown that less than 60% of subjects with other objective evidence of DED are symptomatic. Thus the use of symptoms alone in diagnosis will likely result in missing a significant percentage of DED patients, particularly with early/mild disease. This could have considerable impact in patients undergoing cataract or refractive surgery as patients with DED have less than optimal visual results. The most widely used objective signs for diagnosing DED all show greater variability between eyes and in the same eye over time compared with normal subjects. This variability is thought to be a manifestation of tear film instability which results in rapid breakup of the tearfilm between blinks and is an identifier of patients with DED. This feature emphasizes the bilateral nature of the disease in most subjects not suffering from unilateral lid or other unilateral destabilizing surface disorders. Instability of the composition of the tears also occurs in dry eye disease and shows the same variance between eyes. Finally, elevated tear osmolarity has been reported to be a global marker (present in both subtypes of the disease- aqueous-deficient dry eye and evaporative dry eye). Clinically, osmolarity has been shown to be the best single metric for diagnosis of DED and is directly related to

  4. [SPECIFIC CLINICAL FEATURES OF TYPE 1 AUTOIMMUNE POLYGLANDULAR SYNDROME].

    Science.gov (United States)

    Mikhina, M S; Molashenko, N V; Troshina, E A; Orlova, E M; Sozaeva, L S; Eystein, S H; Breivik, S

    2015-01-01

    Autoimmune polyglandular syndrome is a primary autoimmune disorder affecting two or more peripheral endocrine glands and responsible for their incompetence. It is frequently combined with various organ-specific non-endocrine diseases. Patients with this pathology need life-long replacement therapy and dynamic observation by endocrinologists and other specialists to monitor the effectiveness of the treatment and detect new components of the disease. We report a variant of type 1 autoimmune polyglandular syndrome. Special emphasis is laid on the importance of succession of actions of endocrinologists and specialists in related medical disciplines dealing with children and adult patients.

  5. Clinical manifestations and management of four children with Pearson syndrome.

    Science.gov (United States)

    Tumino, Manuela; Meli, Concetta; Farruggia, Piero; La Spina, Milena; Faraci, Maura; Castana, Cinzia; Di Raimondo, Vincenzo; Alfano, Marivana; Pittalà, Annarita; Lo Nigro, Luca; Russo, Giovanna; Di Cataldo, Andrea

    2011-12-01

    Pearson marrow-pancreas syndrome is a fatal disorder mostly diagnosed during infancy and caused by mutations of mitochondrial DNA. We hereby report on four children affected by Pearson syndrome with hematological disorders at onset. The disease was fatal to three of them and the fourth one, who received hematopoietic stem cell transplantation, died of secondary malignancy. In this latter patient transplantation corrected hematological and non-hematological issues like metabolic acidosis, and we therefore argue that it could be considered as a useful option in an early stage of the disease. Copyright © 2011 Wiley Periodicals, Inc.

  6. 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

    Science.gov (United States)

    Novara, Francesca; Alfei, Enrico; D'Arrigo, Stefano; Pantaleoni, Chiara; Beri, Silvana; Achille, Valentina; Sciacca, Francesca L; Giorda, Roberto; Zuffardi, Orsetta; Ciccone, Roberto

    2013-01-01

    Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms. 5p13 duplications described so far present with variable sizes, from 0.25 to 13.6 Mb, and contain a variable number of genes. Here we report another patient with 5p13 duplication syndrome including NIPBL gene only. Proband's phenotype overlapped that reported in patients with 5p13 microduplication syndrome and especially that of subjects with smaller duplications. Moreover, we better define genotype-phenotype relationship associated with this duplication and confirmed that NIPBL was likely the major dosage sensitive gene for the 5p13 microduplication phenotype. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  7. Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

    Science.gov (United States)

    Neuhaus, Christine; Eisenberger, Tobias; Decker, Christian; Nagl, Sandra; Blank, Cornelia; Pfister, Markus; Kennerknecht, Ingo; Müller-Hofstede, Cornelie; Charbel Issa, Peter; Heller, Raoul; Beck, Bodo; Rüther, Klaus; Mitter, Diana; Rohrschneider, Klaus; Steinhauer, Ute; Korbmacher, Heike M; Huhle, Dagmar; Elsayed, Solaf M; Taha, Hesham M; Baig, Shahid M; Stöhr, Heidi; Preising, Markus; Markus, Susanne; Moeller, Fabian; Lorenz, Birgit; Nagel-Wolfrum, Kerstin; Khan, Arif O; Bolz, Hanno J

    2017-09-01

    Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome. A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively. Quantitative readout reliably detected CNVs (confirmed by MLPA or array-CGH), qualifying targeted NGS as one tool for detecting point mutations and CNVs. CNVs accounted for 10% of identified USH2A alleles, often in trans to seemingly monoallelic point mutations. We demonstrate PTC124-induced read-through of the common p.Trp3955* nonsense mutation (13% of detected USH2A alleles), a potential therapy target. Usher gene mutations were found in most patients with atypical Usher syndrome, but the diagnosis was adjusted in case of double homozygosity for mutations in OTOA and NR2E3 , genes implicated in isolated deafness and RP. Two patients with additional enamel dysplasia had biallelic PEX26 mutations, for the first time linking this gene to Heimler syndrome. Targeted NGS not restricted to Usher genes proved beneficial in uncovering conditions mimicking Usher syndrome.

  8. Periodic Epileptiform Discharges Clarified for the Nonneurologist Intensivist: Clinical Implications and Current Management.

    Science.gov (United States)

    Lahiri, Shouri; Boro, Alexis D; Shiloh, Ariel L; Milstein, Mark J; Savel, Richard H

    2015-10-01

    Periodic epileptiform discharges (PEDs) are frequently encountered during continuous electroencephalography monitoring in the intensive care unit. Their implications and management are variable and highly dependent on the clinical context. This article is intended for the nonneurologist intensivist, reviews basic terminology and clinical implications (including causes, prognosis, and association with seizures), and suggests an approach to management. Several case vignettes are included to illustrate the clinical variability associated with PEDs. © The Author(s) 2013.

  9. A study of pathogenesis of Acanthosis nigricans and its clinical implications

    Directory of Open Access Journals (Sweden)

    Neerja Puri

    2011-01-01

    Full Text Available Background: Acanthosis nigricans (AN is a dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Common in some populations, its prevalence depends on race. Clinicians should recognize AN; it heralds disorders ranging from endocrinologic disturbances to malignancy. In this review, we discuss the pathogenesis of AN and its clinical implications and management. Materials and Methods: We selected 30 patients for the study. Diagnosis of associated disorders was established by history, physical examination, body mass index (BMI, hormone measurements by radioimmunoassays of thyroidnfunction tests, free testosterone, 17 (OH progesterone, dehydroepiandrosterone sulfate (DHEAS, cortisol, gonadotropins, prolactin, immunoreactive insulin, and C-peptide levels. Results and Discussion: In our study, the flexural involvement (flexures of groins, knees and elbows was seen in 40% patients, lip involvement was seen in 6.6% patients, and dorsal involvement was seen in 3.3% patients each. Increased serum testosterone levels were seen in 13.3% patients and increased DHEAS levels were seen in 20% patients. Regarding the types of AN, obesity induced AN or pseudo-AN was seen 70% patients, syndromic AN was seen in 23.35% patients and malignant AN was seen in 6.6% patients. The commonest histopathological feature of patients with AN was hyperkeratosis, seen in 100% patients, papillomatosis was seen in 90% patients, dermal infiltrate of lymphocytes and plasma cells was seen in 60% patients, horn pseudocysts were seen in 30% patients, and irregular acanthosis was seen in 26.6% patients.

  10. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

    Science.gov (United States)

    Miyatake, Satoko; Okamoto, Nobuhiko; Stark, Zornitza; Nabetani, Makoto; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Mizuguchi, Takeshi; Ohtake, Akira; Saitsu, Hirotomo; Matsumoto, Naomichi

    2017-01-01

    KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin–Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms. One individual showed extremely mild phenotype. All individuals fulfilled the proposed diagnostic criteria for KBGS. Phenotypic features overlap between KBGS and CSS to some extent, and characteristic dental and fifth finger/toe findings can indicate differential diagnosis. These findings indicate that patients with ANKRD11 variants occupy a wide spectrum of intellectual disability, including clinically normal individuals. This is the first report highlighting the clinical overlap between KBGS and CSS and supporting the recently proposed clinical concept, in which transcriptional machineries are disrupted. PMID:28250421

  11. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.

    Science.gov (United States)

    Miyatake, Satoko; Okamoto, Nobuhiko; Stark, Zornitza; Nabetani, Makoto; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Mizuguchi, Takeshi; Ohtake, Akira; Saitsu, Hirotomo; Matsumoto, Naomichi

    2017-08-01

    KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin-Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms. One individual showed extremely mild phenotype. All individuals fulfilled the proposed diagnostic criteria for KBGS. Phenotypic features overlap between KBGS and CSS to some extent, and characteristic dental and fifth finger/toe findings can indicate differential diagnosis. These findings indicate that patients with ANKRD11 variants occupy a wide spectrum of intellectual disability, including clinically normal individuals. This is the first report highlighting the clinical overlap between KBGS and CSS and supporting the recently proposed clinical concept, in which transcriptional machineries are disrupted.

  12. Metabolic syndrome in patients with hypertension attending a family practice clinic in Jordan.

    Science.gov (United States)

    Yasein, N; Ahmad, M; Matrook, F; Nasir, L; Froelicher, E S

    2010-04-01

    Metabolic syndrome is being reported more frequently in the Eastern Mediterranean region. Patients with hypertension attending family practice clinics in the University of Jordan Hospital between February and July 2006 were assessed for the frequency of metabolic syndrome and its individual components. Of 345 patients studied, 65% had metabolic syndrome. Females were more likely to meet Adult Treatment Panel-III criteria for the diagnosis. Diabetes mellitus was the most frequent component of metabolic syndrome in males, while low serum high-density lipoprotein cholesterol and high waist circumference ranked first and second in females. Primary care providers should be alert to the importance of screening patients with hypertension for metabolic syndrome to prevent and manage these combined conditions.

  13. WOLFF–PARKINSON–WHITE SYNDROME IN CHILDREN: CLINICAL COURSE, DIAGNOSTICS, TREATMENT

    Directory of Open Access Journals (Sweden)

    T.K. Kruchina

    2011-01-01

    Full Text Available Wolff–Parkinson–White (WPW syndrome — is the most common cause of tachycardia in children. The clinical significance of WPW udden cardiac death. Data are presented on the principles of diagnosis of various types of WPW syndrome and characteristics of various types of tachycardia occurring in this disease. At present there is a radical method of treatment of the WPW syndrome — radiofrequency ablation of atrioventricular additional connections. Antiarhythmic therapy remains relevant in arresting attacks of tachycardia, as well as in the treatment of young children who have the age limits for radiofrequency ablation. The principles of choice of treatment and relief of the attack algorithm tachycardia syndrome WPW are described. Key words: Wolff–Parkinson–White syndrome, paroxysmal atrioventricular reciprocal tachycardia, children. (Pediatric Pharmacology. — 2011; 8 (5: 49–53.

  14. Gastric tumours in hereditary cancer syndromes: clinical features, molecular biology and strategies for prevention.

    Science.gov (United States)

    Sereno, María; Aguayo, Cristina; Guillén Ponce, Carmen; Gómez-Raposo, César; Zambrana, Francisco; Gómez-López, Miriam; Casado, Enrique

    2011-09-01

    Gastric cancer is the major cause of cancer-related deaths worldwide. The majority of them are classified as sporadic, whereas the remaining 10% exhibit familial clustering. Hereditary diffuse gastric cancer (HDGC) syndrome is the most important condition that leads to hereditary gastric cancer. However, other hereditary cancer syndromes, such as hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, Peutz-Jeghers syndrome, Li-Fraumeni syndrome and hereditary breast and ovarian cancer, entail a higher risk compared to the general population for developing this kind of neoplasia. In this review, we describe briefly the most important aspects related to clinical features, molecular biology and strategies for prevention in hereditary gastric associated to different cancer syndromes.

  15. Revised guidelines for the clinical management of Lynch syndrome (HNPCC)

    DEFF Research Database (Denmark)

    Vasen, Hans F A; Blanco, Ignacio; Aktan-Collan, Katja

    2013-01-01

    Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. In 2007, a group of European experts (the Mallorca group) published guidelines...

  16. Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities

    Directory of Open Access Journals (Sweden)

    Hassan Hashemi

    2017-01-01

    Full Text Available The hyperimmunoglobulin E syndromes (HIESs are very rare immunodeficiency syndromes with multisystem involvement, including immune system, skeleton, connective tissue, and dentition. HIES are characterized by the classic triad of high serum levels of immunoglobulin E (IgE, recurrent staphylococcal cold skin abscess, and recurrent pneumonia with pneumatocele formation. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. A fundamental immunologic defect in HIES is not clearly elucidated but abnormal neutrophil chemotaxis due to decreased production or secretion of interferon γ has main role in the immunopathogenesis of syndrome, also distorted Th1/Th2 cytokine profile toward a Th2 bias contributes to the impaired cellular immunity and a specific pattern of infection susceptibility as well as atopic-allergic constitution of syndrome. The ophthalmic manifestations of this disorder include conjunctivitis, keratitis, spontaneous corneal perforation, recurrent giant chalazia, extensive xanthelasma, tumors of the eyelid, strabismus, and bilateral keratoconus. The diagnosis of HIES is inconclusive, dependent on the evolution of a constellation of complex multisystemic symptoms and signs which develop over the years. Until time, no treatment modality is curative for basic defect in HIES, in terms of cytokines/chemokines derangement. Of note, bone marrow transplant and a monoclonal anti-IgE (omalizumab are hoped to be successful treatment in future.

  17. Epidemiological and clinical aspects of the Guillain-Barre Syndrome

    NARCIS (Netherlands)

    R. van Koningsveld (Rinske)

    2001-01-01

    textabstractThe Guillain-Barre syndrome (GBS) is an acute immune-mediated disorder of the peripheral nerves. The essential features are a rapidly progressive, more or less symmetrical weakness of the limbs and decreased or absent tendon reflexes. The weakness reaches its nadir (maximum severity) by

  18. Ectopic ACTH syndrome: a clinical challenge | Tsabedze | Journal of ...

    African Journals Online (AJOL)

    A patient was managed in our endocrinology unit with ectopic Cushing's syndrome from an adrenocorticotropic hormoneproducing neuroendocrine carcinoma of the anal canal. There was limited response to standard therapy, which made it difficult to correct the electrolyte and metabolic derangements associated with the ...

  19. Clinical care of adult Turner syndrome--new aspects

    DEFF Research Database (Denmark)

    Trolle, Christian; Mortensen, Kristian Havmand; Hjerrild, Britta E

    2012-01-01

    Turner syndrome (TS) is characterized by numerous medical challenges during adolescence and adulthood. Puberty has to be induced in most cases, and female sex hormone replacement therapy (HRT) should continue during adult years. These issues are normally dealt with by the paediatrician, but once...

  20. Exophthalmos: A Forgotten Clinical Sign of Cushing's Syndrome

    Directory of Open Access Journals (Sweden)

    Aldo Schenone Giugni

    2013-01-01

    Full Text Available Exophthalmos is typically associated with Graves' ophthalmopathy. Although originally described by Harvey Cushing, exophthalmos is an underappreciated sign of Cushing's syndrome. We present a case of a 38-year-old female who presented with severe bilateral proptosis and was subsequently diagnosed with Cushings disease. We discuss the possible mechanisms causing exophthalmos in patients with either endogenous or exogenous hypercortisolemia.

  1. Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries

    Directory of Open Access Journals (Sweden)

    Erbao Chen

    2018-01-01

    Full Text Available Approximately one-third of individuals diagnosed with colorectal cancer have a family history of cancer, suggesting that CRCs may result from a heritable component. Despite the availability of current gene-identification techniques, only 5% of all CRCs emerge from well-identifiable inherited causes for predisposition, including polyposis and nonpolyposis syndromes. Hereditary nonpolyposis colorectal cancer represents a large proportion of cases, and robustly affected patients are at increased risk for early onset, synchronous, and metachronous colorectal malignancies and extracolonic malignancies. HNPCC encompasses several cancer syndromes, such as Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X, which have remarkable clinical presentations and overlapping genetic profiles that make clinical diagnosis a challenging task. Therefore, distinguishing between the HNPCC disorders is crucial for physicians as an approach to tailor different recommendations for patients and their at-risk family members according to the risks for colonic and extracolonic cancer associated with each syndrome. Identification of these potential patients through epidemiological characteristics and new genetic testing can estimate the individual risk, which informs appropriate cancer screening, surveillance, and/or treatment strategies. In the past three years, many appealing and important advances have been made in our understanding of the relationship between HNPCC and CRC-associated syndromes. The knowledge from the genetic profile of cancer syndromes and unique genotype-phenotype profiles in the different syndromes has changed our cognition. Therefore, this review presents and discusses HNPCC and several common nonpolyposis syndromes with respect to molecular phenotype, histopathologic features, and clinical presentation.

  2. Prevalence of burnout syndrome in clinical nurses at a hospital of excellence.

    Science.gov (United States)

    Ribeiro, Vivian F; Filho, Celso Ferreira; Valenti, Vitor E; Ferreira, Marcelo; de Abreu, Luiz Carlos; de Carvalho, Tatiana Dias; Xavier, Valdelias; de Oliveira Filho, JapyAngeli; Gregory, Pedro; Leão, Eliseth Ribeiro; Francisco, Natascha G; Ferreira, Celso

    2014-01-01

    Burnout syndrome can be defined as long-term work stress resulting from the interaction between constant emotional pressure associated with intense interpersonal involvement for long periods of time and personal characteristics. We investigated the prevalence/propensity of Burnout syndrome in clinical nurses, and the factors related to Burnout syndrome-associated such as socio-demographic characteristics, work load, social and family life, leisure activities, extra work activities, physical activities, and work-related health problems. We conducted a cross-sectional, quantitative, prospective epidemiological study with 188 surgical clinic nurses. We used the Maslach Burnout Inventory (MBI), which is a socio-demographic questionnaire and the most widely used instrument to assess Burnout syndrome (three basic dimensions: emotional exhaustion, despersonalization and professional underachievement). The socio-demographic profile questionnaire wascomposed of questions regarding identification, training, time at work, work characteristics and personal circumstances. The prevalence of Burnout syndrome was higher (10.1%) and 55, 4% of subjects had a propensity to develop this syndrome. The analysis of the socio-demographic profile of the nurse sample studied showed that most nurses were childless married women, over 35 years of age, working the day shift for 36 hours weekly on average, with 2-6 years of post-graduation experience, and without extra employments. Factors such as marital status, work load, emotion and work related stress aggravated the onset of the syndrome. The prevalence and propensity of Burnout syndrome were high. Some factors identified can be useful for the adoption of preventive actions in order to decrease the prevalence of the clinical nurses Burnout syndrome.

  3. Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians

    NARCIS (Netherlands)

    Sijmons, Rolf H.; Greenblatt, Marc S.; Genuardi, Maurizio

    Clinicians referring patients for genetic testing for Lynch syndrome will sooner or later receive results for DNA Mismatch Repair (MMR) genes reporting DNA changes that are unclear from a clinical point of view. These changes are referred to as variants of unknown, or unclear, clinical significance

  4. Reliability of Diagnosing Clinical Hypothyroidism in Adults with Down Syndrome. Brief Report.

    Science.gov (United States)

    Prasher, V. P.

    1995-01-01

    The accuracy of diagnosing hypothyroidism in 160 adults with Down syndrome was examined. A significant association between a clinical diagnosis of hypothyroidism and increasing age was found but no significant association was found between a clinical and a biochemical diagnosis. Regular biochemical screening is recommended. (Author/SW)

  5. Clinical Research on Treatment of Hyperkinetic Syndrome of Childhood by Electroacupuncture plus Acupoint Application

    Institute of Scientific and Technical Information of China (English)

    WU Yao-chi; KUAI Le

    2003-01-01

    Objective To observe the clinical therapeu tic effect of hyperkinetic syndrome of childhood treated by electroacupuncture plus acupoint application. Method Sixty-five cases with hyperkinetic syndrome of childhood were treated by electroacupuncture plus acupoint application (electroacupuncture group); 53 cases were treated by acupuncture (acupuncture group) and 53 cases were treated by Ritalin (west drug group). The above three groups were compared with each other in therapeutic effect. Results The effective rate of treating hyperkinetic syndrome of childhood by electroacupuncture plus acupoint application was 87.7%; the effective rate in west drug group was 86.8% and in acupuncture group was 77.4%. A comparison among the three groups showed there was no significant difference in clinical ther apeutic effect ( P > 0.05 ). Conclusion Electroacupuncture plus acupoint application was an effective therapy of hyperkinetic syndrome of childhood.

  6. Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

    Directory of Open Access Journals (Sweden)

    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.

  7. Beals syndrome (congenital contractural arachnodactyly in children: Clinical symptoms, diagnosis, treatment, and prevention

    Directory of Open Access Journals (Sweden)

    A. N. Semyachkina

    2016-01-01

    Full Text Available The paper deals with a rare monogenic connective tissue disease from a group of fibrillinopathies with autosomal dominant inheritance — Beals syndrome caused by a mutation in the FBN2 gene. Attention is drawn to the high phenotypic similarity of this disease and Marfan syndrome (FBN1 gene mutation, which is associated with the almost complete identity of two proteins: fibrillin 1 and fibrillin 2.The paper describes a clinical case of a child with Beals syndrome and the typical manifestations of the disease: asthenic constitution, arachnodactyly of the hands and feet, congenital contractures of the large and small joints, chest deformity, kyphoscoliosis, talpes, and crushed ears. The investigators made a differential diagnosis with other connective tissue diseases, such as Marfan syndrome, Stickler syndrome, Ehlers–Danlos syndrome, homocystenuria, and arthrogryposis. DNA diagnosis verified the Beals syndrome in the proband. Exon 28 in the FBN2 gene showed the previously undescribed missense mutation of c.3719G>A, resulting in the amino acid substitution of cysteine for tyrosine (p.Cys1240Tyr in the structure of the protein fibrillin 2. A de novo mutation occurred. There is evidence for its pathogenicity in the development of the clinical symptoms of the disease. The problems of effective medical genetic counseling in this family are discussed. 

  8. A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome

    Science.gov (United States)

    Bejiqi, Ramush; Retkoceri, Ragip; Xhema-Bejiqi, Hana; Bejiqi, Rinor; Maloku, Arlinda

    2017-01-01

    Introduction: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. Case report: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group. PMID:28790548

  9. MR diagnosis and clinical management of whiplash injury syndrome of spinal cord

    International Nuclear Information System (INIS)

    Lin Shixu; Lin Daiying; Wu Xianheng; Zeng Xianting

    2003-01-01

    Objective: To study the MR manifestations of whiplash injury syndrome of spinal cord. Methods: MR images of 21 cases diagnosed as whiplash injury syndrome were retrospectively studied. Those images included transverse and sagittal views and coronal scan had been performed in some cases. Results: MRI inspection safely and objectively reveals the extent of the spinal injury, and helps the anticipation of the prognosis. Conclusion: MRI is the first choice of the imaging modalities assessing the whiplash injury syndrome of the spinal cord. An early diagnosis is valuable to clinical management and rehabilitation

  10. Evaluation of signalment, clinical, and laboratory variables as prognostic indicators in dogs with acute abdominal syndrome

    OpenAIRE

    SIMEONOVA, Galina; DINEV, Dinko; CHAPRAZOV, Tzvetan; ROYDEV, Rumen

    2013-01-01

    The aim of the study was to identify predictors of mortality and to propose a new severity scoring system in dogs with acute abdominal syndrome. A retrospective study was carried out on 58 dogs presented with acute abdominal syndrome with American Society of Anesthesiologists grades III-IV and treated surgically by exploratory laparotomy. Medical records were reviewed and information regarding dog signalment, history, clinical, and laboratory data; surgical findings; and outcome was collected...

  11. Clinical Characteristics, Management, and Outcomes of Suspected Poststroke Acute Coronary Syndrome

    OpenAIRE

    Biso, Sylvia Marie; Lu, Marvin; De Venecia, Toni Anne; Wongrakpanich, Supakanya; Rodriguez-Ziccardi, Mary; Yadlapati, Sujani; Kishlyansky, Marina; Rammohan, Harish Seetha; Figueredo, Vincent M.

    2017-01-01

    Background Acute coronary syndrome (ACS) can complicate acute ischemic stroke, causing significant morbidity and mortality. To date, literatures that describe poststroke acute coronary syndrome and its morbidity and mortality burden are lacking. Methods This is a single center, retrospective study where clinical characteristics, cardiac evaluation, and management of patients with suspected poststroke ACS were compared and analyzed for their association with inpatient mortality and 1-year all-...

  12. Usher syndrome in the city of Birmingham—prevalence and clinical classification

    OpenAIRE

    Hope, C; Bundey, S; Proops, D; Fielder, A

    1997-01-01

    AIMS—To estimate the prevalence of Usher syndrome in the city of Birmingham, and to establish a database of patients who have been classified into different clinical subtypes essential for future gene mutation analysis.
METHODS—Symptomatic cases of Usher syndrome (US) resident in the city of Birmingham in June 1994 were ascertained through multiple sources. Ophthalmic and audiological reassessment together with examination of medical records and patient questionnaires allowed classification o...

  13. Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents: Is there an age effect?

    Science.gov (United States)

    Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco

    2017-06-01

    There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with less severe symptoms and better psychosocial functioning than presentation in childhood or younger adolescence. Ninety-four CAD (age 9-18) meeting Attenuated Psychosis Syndrome criteria participated in the study. The sample was divided and compared according to the age of presentation of Attenuated Psychosis Syndrome (9-14 vs 15-18 years). The predictive value of age of Attenuated Psychosis Syndrome presentation was investigated using receiver operating characteristic (ROC)-curve calculations. The two Attenuated Psychosis Syndrome groups were homogeneous in terms of gender distribution, IQ scores and comorbid diagnoses. Older Attenuated Psychosis Syndrome patients showed better functioning and lower depressive scores. ROC curves revealed that severity of functional impairment was best predicted using an age of presentation cut-off of 14.9 years for social functioning and 15.9 years for role functioning. This study partially confirmed our hypothesis; older age at presentation of Attenuated Psychosis Syndrome was associated with less functional impairment, but age was not associated with psychotic symptoms. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  14. Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings.

    Science.gov (United States)

    Dichter, Gabriel S; Damiano, Cara A; Allen, John A

    2012-07-06

    This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders), neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette's syndrome, conduct disorder/oppositional defiant disorder), and genetic syndromes (i.e., Fragile X syndrome, Prader-Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome). We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.

  15. Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

    Directory of Open Access Journals (Sweden)

    Dichter Gabriel S

    2012-07-01

    Full Text Available Abstract This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders, neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette’s syndrome, conduct disorder/oppositional defiant disorder, and genetic syndromes (i.e., Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome. We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.

  16. Reclassification of clinical sleep disorders using traditional models of syndromic, neuroanatomic, pathophysiological and etiological diagnosis.

    Science.gov (United States)

    Spitzer, A Robert

    2014-09-01

    Existing classifications of central nervous system sleep disorders do not often provide tools to diagnose the majority of patients complaining of sleep-related symptoms, nor always guide effective treatment. I present a novel classification system that completely separates clinical syndromes from anatomical localization, pathophysiology, and etiology. The clinical syndrome I present can describe the majority of patients, but can be fractionated into individual subgroups for further study. By then separating the anatomy and physiology from the symptoms, an avenue of research becomes available to study the different possible structures that regulate sleep, that may be damaged and cause syndromes of sleep dysfunction. Some of these may produce symptoms that overlap with narcolepsy and some may be distinct. Because the clinical syndrome should be distinguished from anatomy or physiology, I have proposed the term narcoleptiform syndrome for the clinical syndrome. The model also clearly separates etiology from anatomy in a classical neurological manner. This allows etiology, localization and symptoms to be studied separately. It is likely that different etiologies may produce damage in areas that produce similar syndromes. For example, in this model, different causes of damage to the orexin nucleus would result in the same clinical syndrome. This reinforces the concept of studying anatomy, symptoms and etiology separately. By studying the relationship of syndromes or symptoms to anatomic localization and pathophysiology, it should be possible to test novel approaches to treatment based on different underlying structure or function. For example, patients with lesions in the ventrolateral preoptic nucleus or the thalamic intralaminar nuclei may both present with insomnia symptoms but need different treatment; or they might present with symptoms overlapping narcolepsy (a narcoleptiform syndrome) yet need different treatment. In some cases, a single treatment may cross over

  17. Klinefelter syndrome, insulin resistance, metabolic syndrome, and diabetes: review of literature and clinical perspectives.

    Science.gov (United States)

    Salzano, Andrea; D'Assante, Roberta; Heaney, Liam M; Monaco, Federica; Rengo, Giuseppe; Valente, Pietro; Pasquali, Daniela; Bossone, Eduardo; Gianfrilli, Daniele; Lenzi, Andrea; Cittadini, Antonio; Marra, Alberto M; Napoli, Raffaele

    2018-03-23

    Klinefelter syndrome (KS), the most frequent chromosomic abnormality in males, is associated with hypergonadotropic hypogonadism and an increased risk of cardiovascular diseases (CVD). The mechanisms involved in increasing risk of cardiovascular morbidity and mortality are not completely understood. This review summarises the current understandings of the complex relationship between KS, metabolic syndrome and cardiovascular risk in order to plan future studies and improve current strategies to reduce mortality in this high-risk population. We searched PubMed, Web of Science, and Scopus for manuscripts published prior to November 2017 using key words "Klinefelter syndrome" AND "insulin resistance" OR "metabolic syndrome" OR "diabetes mellitus" OR "cardiovascular disease" OR "testosterone". Manuscripts were collated, studied and carried forward for discussion where appropriate. Insulin resistance, metabolic syndrome, and type 2 diabetes are more frequently diagnosed in KS than in the general population; however, the contribution of hypogonadism to metabolic derangement is highly controversial. Whether this dangerous combination of risk factors fully explains the CVD burden of KS patients remains unclear. In addition, testosterone replacement therapy only exerts a marginal action on the CVD system. Since fat accumulation and distribution seem to play a relevant role in triggering metabolic abnormalities, an early diagnosis and a tailored intervention strategy with drugs aimed at targeting excessive visceral fat deposition appear necessary in patients with KS.

  18. Corpus callosum and neglect syndrome: Clinical findings after meningioma removal and anatomical review

    Directory of Open Access Journals (Sweden)

    David Gomes

    2017-01-01

    Full Text Available Two types of neglect are described: hemispatial and motivational neglect syndromes. Neglect syndrome is a neurophysiologic condition characterized by a malfunction in one hemisphere of the brain, resulting in contralateral hemispatial neglect in the absence of sensory loss and the right parietal lobe lesion being the most common anatomical site leading to it. In motivational neglect, the less emotional input is considered from the neglected side where anterior cingulate cortex harbors the most frequent lesions. Nevertheless, there are reports of injuries in the corpus callosum (CC causing hemispatial neglect syndrome, particularly located in the splenium. It is essential for a neurosurgeon to recognize this clinical syndrome as it can be either a primary manifestation of neurosurgical pathology (tumor, vascular lesion or as a postoperative iatrogenic clinical finding. The authors report a postoperative hemispatial neglect syndrome after a falcotentorial meningioma removal that recovered 10 months after surgery and performs a clinical, anatomical, and histological review centered in CC as key agent in neglect syndrome.

  19. Cytogenetics findings at Turner Syndrome and their correlation with clinical findings

    Directory of Open Access Journals (Sweden)

    Amra Ćatović

    2005-08-01

    Full Text Available Turner Syndrome is a genetic condition in females that results from an abnormal chromosome. One of the X chromosomes is missing or misshapen in the most cells of the body. Three classics clinical symptoms of the syndrome are: incomplete sexual maturation, short stature and pterygium colli. Turner Syndrome is diagnosed by karyotyping. In the retrospective study for a twelve years period (1991-2002 correlation between clinical and cytogenetics findings was established in our Center among 47 examinees from all parts of Federation of Bosnia and Herzegovina, who had suspect clinical diagnosis of Turner Syndrome. The syndrome was demonstrated by cytogeneticsexaminations in 30(63,8% examinees and excluded in 17 (36,2% examinees. The most frequent karyotype is monosomy of X chromosome (45,X found at 63,3%, than isochromosome of Xq (46,XisoXq found at 16,7%, mosaic form (46,XX/45,X and deletion of Xp (46,XdelXp both at 6,7%, than deletion of Xq (46,XdelXq and ring of Xp (46,XX/46,XringXp both at 3,3%. Our results suggest that promptly and exactly diagnosis of Turner syndrome is very important due to introducing growth hormone therapy and estrogen therapy at a very young age.

  20. Clinical features and outcome of epinephrine-induced takotsubo syndrome: Analysis of 33 published cases

    International Nuclear Information System (INIS)

    Y-Hassan, Shams

    2016-01-01

    Background: Takotsubo syndrome (TS) may be triggered by innumerable physical stress factors including epinephrine administration. The aim of this study is to report on the clinical features and outcome of epinephrine-induced TS (Epi-TS) in a large cohort of published cases. Methods: A computer assisted search of the electronic data base Pubmed was performed from 1990 to 2014. All cases deemed to have Epi-TS were retrieved and compared to the large recent report by Templin et al. (All-TS). Results: Thirty-three cases of Epi-TS were retrieved from the literature and compared to 1750 cases of All-TS. Chest pain as a presenting symptom occurred in 45% of cases. The Epi-TS patients were on average 20.6 years younger than All-TS patients (p < 0.0001). The women were still predominating in Epi-TS but in a significantly lower percentage compared to ALL-TS (73% in Epi-TS vs 89.8% in All-TS, p = 0.0054). One third of the Epi-TS cases had basal pattern of TS compared to 2.2% of cases reported in All-TS. Epi-TS cases were characterized by high complication rates, which occurred in 57.6%. The most important risk factor for the development of TS complication was the accidental administration (P < 0.001) and the dose of >1 mg epinephrine (p = 0.02). In spite of high complication rates, the recovery was rapid with no in-hospital mortality. Conclusion: Epi-TS is characterized by a dramatic rapid onset of symptoms after epinephrine administration. Almost half of the cases had apical sparing and one third basal pattern of TS. In spite of high complication rates, the prognosis was good with no in-hospital mortality. - Highlights: • Published cases of Epinephrine-induced Takotsubo Syndrome (Epi-TS) are reviewed. • Epi-TS is characterized by a dramatic clinical presentation and high complication rates. • In spite of high complication rates, the prognosis of Epi-TS is good. • Almost half of the cases of Epi-TS had apical sparing pattern of TS. • The implications of the findings

  1. Clinical features and outcome of epinephrine-induced takotsubo syndrome: Analysis of 33 published cases

    Energy Technology Data Exchange (ETDEWEB)

    Y-Hassan, Shams, E-mail: shams.younis-hassan@karolinska.se

    2016-10-15

    Background: Takotsubo syndrome (TS) may be triggered by innumerable physical stress factors including epinephrine administration. The aim of this study is to report on the clinical features and outcome of epinephrine-induced TS (Epi-TS) in a large cohort of published cases. Methods: A computer assisted search of the electronic data base Pubmed was performed from 1990 to 2014. All cases deemed to have Epi-TS were retrieved and compared to the large recent report by Templin et al. (All-TS). Results: Thirty-three cases of Epi-TS were retrieved from the literature and compared to 1750 cases of All-TS. Chest pain as a presenting symptom occurred in 45% of cases. The Epi-TS patients were on average 20.6 years younger than All-TS patients (p < 0.0001). The women were still predominating in Epi-TS but in a significantly lower percentage compared to ALL-TS (73% in Epi-TS vs 89.8% in All-TS, p = 0.0054). One third of the Epi-TS cases had basal pattern of TS compared to 2.2% of cases reported in All-TS. Epi-TS cases were characterized by high complication rates, which occurred in 57.6%. The most important risk factor for the development of TS complication was the accidental administration (P < 0.001) and the dose of >1 mg epinephrine (p = 0.02). In spite of high complication rates, the recovery was rapid with no in-hospital mortality. Conclusion: Epi-TS is characterized by a dramatic rapid onset of symptoms after epinephrine administration. Almost half of the cases had apical sparing and one third basal pattern of TS. In spite of high complication rates, the prognosis was good with no in-hospital mortality. - Highlights: • Published cases of Epinephrine-induced Takotsubo Syndrome (Epi-TS) are reviewed. • Epi-TS is characterized by a dramatic clinical presentation and high complication rates. • In spite of high complication rates, the prognosis of Epi-TS is good. • Almost half of the cases of Epi-TS had apical sparing pattern of TS. • The implications of the findings

  2. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).

    Science.gov (United States)

    Buchanan, Daniel D; Rosty, Christophe; Clendenning, Mark; Spurdle, Amanda B; Win, Aung Ko

    2014-01-01

    Carriers of a germline mutation in one of the DNA mismatch repair (MMR) genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome). MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening) is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification) and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the data from published studies are combined, 59% (95% confidence interval [CI]: 55% to 64%) of colorectal cancers and 52% (95% CI: 41% to 62%) of endometrial cancers with MMR deficiency were identified as suspected Lynch syndrome. Recent studies estimated that colorectal cancer risk for relatives of suspected Lynch syndrome cases is lower than for relatives of those with MMR gene mutations, but higher than for relatives of those with tumor MMR deficiency resulting from methylation of the MLH1 gene promoter. The cause of tumor MMR deficiency in suspected Lynch syndrome cases is likely due to either unidentified germline MMR gene mutations, somatic cell mosaicism, or biallelic somatic

  3. Shwachman-Diamond syndrome: clinical, radiological and sonographic findings

    Energy Technology Data Exchange (ETDEWEB)

    Berrocal, T. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Simon, M.J. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Al-Assir, I. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Prieto, C. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Pastor, I. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Pablo, L. de [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Lama, R. [Servicio de Gastroenterologia, Hospital Infantil `La Paz`, Madrid (Spain)

    1995-07-01

    Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease, which is characterized by metaphyseal chondrodysplasia, neutropenia and exocrine pancreatic insufficiency. It presents with varying extremity shortening, ``cup`` deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, as well as increased echogenicity of the normal-sized pancreas. We discuss the differential diagnosis and review the literature. (orig.)

  4. Shwachman-Diamond syndrome: clinical, radiological and sonographic aspects

    Energy Technology Data Exchange (ETDEWEB)

    Berrocal, T. [Dept. of Pediatric Radiology, `La Paz` Children`s Hospital, Madrid (Spain); Simon, M.J. [Dept. of Pediatric Radiology, `La Paz` Children`s Hospital, Madrid (Spain); Al-Assir, I. [Dept. of Pediatric Radiology, `La Paz` Children`s Hospital, Madrid (Spain); Prieto, C. [Dept. of Pediatric Radiology, `La Paz` Children`s Hospital, Madrid (Spain); Pastor, I. [Dept. of Pediatric Radiology, `La Paz` Children`s Hospital, Madrid (Spain); Pablo, L. de [Dept. of Pediatric Radiology, `La Paz` Children`s Hospital, Madrid (Spain); Lama, R. [Dept. of Gastroenterology, `La Paz` Children`s Hospital, Madrid (Spain)

    1995-06-01

    Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease which is characterized by metaphyseal chondrodysplasia, neutropenia and pancreatic exocrine insufficiency. It presents with variable extremity shortening, ``cup`` deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, and increased echogenicity of the pancreas without change in size. We discuss the differential diagnosis and review the literature. (orig.)

  5. Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

    OpenAIRE

    Albanese, Alberto; Sorbo, Francesca Del

    2016-01-01

    Background: Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods: Known form...

  6. Shwachman-Diamond syndrome: clinical, radiological and sonographic findings

    International Nuclear Information System (INIS)

    Berrocal, T.; Simon, M.J.; Al-Assir, I.; Prieto, C.; Pastor, I.; Pablo, L. de; Lama, R.

    1995-01-01

    Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease, which is characterized by metaphyseal chondrodysplasia, neutropenia and exocrine pancreatic insufficiency. It presents with varying extremity shortening, ''cup'' deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, as well as increased echogenicity of the normal-sized pancreas. We discuss the differential diagnosis and review the literature. (orig.)

  7. Shwachman-Diamond syndrome: clinical, radiological and sonographic aspects

    International Nuclear Information System (INIS)

    Berrocal, T.; Simon, M.J.; Al-Assir, I.; Prieto, C.; Pastor, I.; Pablo, L. de; Lama, R.

    1995-01-01

    Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease which is characterized by metaphyseal chondrodysplasia, neutropenia and pancreatic exocrine insufficiency. It presents with variable extremity shortening, ''cup'' deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, and increased echogenicity of the pancreas without change in size. We discuss the differential diagnosis and review the literature. (orig.)

  8. Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications

    Directory of Open Access Journals (Sweden)

    Vincenzo Salpietro

    2014-01-01

    Full Text Available Various neurological and psychiatric manifestations have been recorded in children with adrenal disorders. Based on literature review and on personal case-studies and case-series we focused on the pathophysiological and clinical implications of glucocorticoid-related, mineralcorticoid-related, and catecholamine-related paediatric nervous system involvement. Childhood Cushing syndrome can be associated with long-lasting cognitive deficits and abnormal behaviour, even after resolution of the hypercortisolism. Exposure to excessive replacement of exogenous glucocorticoids in the paediatric age group (e.g., during treatments for adrenal insufficiency has been reported with neurological and magnetic resonance imaging (MRI abnormalities (e.g., delayed myelination and brain atrophy due to potential corticosteroid-related myelin damage in the developing brain and the possible impairment of limbic system ontogenesis. Idiopathic intracranial hypertension (IIH, a disorder of unclear pathophysiology characterised by increased cerebrospinal fluid (CSF pressure, has been described in children with hypercortisolism, adrenal insufficiency, and hyperaldosteronism, reflecting the potential underlying involvement of the adrenal-brain axis in the regulation of CSF pressure homeostasis. Arterial hypertension caused by paediatric adenomas or tumours of the adrenal cortex or medulla has been associated with various hypertension-related neurological manifestations. The development and maturation of the central nervous system (CNS through childhood is tightly regulated by intrinsic, paracrine, endocrine, and external modulators, and perturbations in any of these factors, including those related to adrenal hormone imbalance, could result in consequences that affect the structure and function of the paediatric brain. Animal experiments and clinical studies demonstrated that the developing (i.e., paediatric CNS seems to be particularly vulnerable to alterations induced by

  9. Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

    Directory of Open Access Journals (Sweden)

    Alberto Albanese

    2016-04-01

    Full Text Available Background: Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods: Known forms of syndromes with isolated tremor are reviewed. Diagnostic uncertainties between tremor and dystonia are put into perspective. Results: The following isolated tremor syndromes are reviewed: essential tremor, head tremor, voice tremor, jaw tremor, and upper-limb tremor. Their varied phenomenology is analyzed and appraised in the light of a possible relationship with dystonia. Discussion: Clinicians making a diagnosis of isolated tremor should remain vigilant for the detection of features of dystonia. This is in keeping with the recent view that isolated tremor may be an incomplete phenomenology of dystonia.

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

    Science.gov (United States)

    Raff, Hershel; Carroll, Ty

    2015-01-01

    The physiological control of cortisol synthesis in the adrenal cortex involves stimulation of adrenocorticotrophic hormone (ACTH) by hypothalamic corticotrophin-releasing hormone (CRH) and then stimulation of the adrenal by ACTH. The control loop of the hypothalamic–pituitary–adrenal (HPA) axis is closed by negative feedback of cortisol on the hypothalamus and pituitary. Understanding this system is required to master the diagnosis, differential diagnosis and treatment of endogenous hypercortisolism – Cushing's syndrome. Endogenous Cushing's syndrome is caused either by excess ACTH secretion or by autonomous cortisol release from the adrenal cortex. Diagnosis of cortisol excess exploits three physiological principles: failure to achieve the normal nadir in the cortisol diurnal rhythm, loss of sensitivity of ACTH-secreting tumours to cortisol negative feedback, and increased excretion of free cortisol in the urine. Differentiating a pituitary source of excess ACTH (Cushing's disease) from an ectopic source is accomplished by imaging the pituitary and sampling for ACTH in the venous drainage of the pituitary. With surgical removal of ACTH or cortisol-secreting tumours, secondary adrenal insufficiency ensues because of the prior suppression of the HPA axis by glucocorticoid negative feedback. Medical therapy is targeted to the anatomical location of the dysregulated component of the HPA axis. Future research will focus on new diagnostics and treatments of Cushing's syndrome. These are elegant examples of translational research: understanding basic physiology informs the development of new approaches to diagnosis and treatment. Appreciating pathophysiology generates new areas for inquiry of basic physiological and biochemical mechanisms. PMID:25480800

  11. Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

    Science.gov (United States)

    Albanese, Alberto; Sorbo, Francesca Del

    2016-01-01

    Background Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods Known forms of syndromes with isolated tremor are reviewed. Diagnostic uncertainties between tremor and dystonia are put into perspective. Results The following isolated tremor syndromes are reviewed: essential tremor, head tremor, voice tremor, jaw tremor, and upper-limb tremor. Their varied phenomenology is analyzed and appraised in the light of a possible relationship with dystonia. Discussion Clinicians making a diagnosis of isolated tremor should remain vigilant for the detection of features of dystonia. This is in keeping with the recent view that isolated tremor may be an incomplete phenomenology of dystonia. PMID:27152246

  12. DMPD: Innate immunity and toll-like receptors: clinical implications of basic scienceresearch. [Dynamic Macrophage Pathway CSML Database

    Lifescience Database Archive (English)

    Full Text Available 15069387 Innate immunity and toll-like receptors: clinical implications of basic science...te immunity and toll-like receptors: clinical implications of basic scienceresearch. PubmedID 15069387 Title... Innate immunity and toll-like receptors: clinical implications of basic sciencer

  13. Exogenous insulin antibody syndrome (EIAS): a clinical syndrome associated with insulin antibodies induced by exogenous insulin in diabetic patients.

    Science.gov (United States)

    Hu, Xiaolei; Chen, Fengling

    2018-01-01

    Insulin has been used for diabetes therapy and has achieved significant therapeutic effect. In recent years, the use of purified and recombinant human insulin preparations has markedly reduced, but not completely suppressed, the incidence of insulin antibodies (IAs). IAs induced by exogenous insulin in diabetic patients is associated with clinical events, which is named exogenous insulin antibody syndrome (EIAS). The present review is based on our research and summarizes the characterization of IAs, the factors affecting IA development, the clinical significance of IAs and the treatments for EIAS. © 2018 The authors.

  14. Association of glucocorticoid receptor polymorphisms with clinical and metabolic profiles in polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Gustavo A.Rosa Maciel

    2014-03-01

    Full Text Available OBJECTIVES: We aimed to investigate whether glucocorticoid receptor gene polymorphisms are associated with clinical and metabolic profiles in patients with polycystic ovary syndrome. Polycystic ovary syndrome is a complex endocrine disease that affects 5-8% of women and may be associated with metabolic syndrome, which is a risk factor for cardiovascular disease. Cortisol action and dysregulation account for metabolic syndrome development in the general population. As glucocorticoid receptor gene (NR3C1 polymorphisms regulate cortisol sensitivity, we hypothesized that variants of this gene may be involved in the adverse metabolic profiles of patients with polycystic ovary syndrome. METHOD: Clinical, metabolic and hormonal profiles were evaluated in 97 patients with polycystic ovary syndrome who were diagnosed according to the Rotterdam criteria. The alleles of the glucocorticoid gene were genotyped. Association analyses were performed using the appropriate statistical tests. RESULTS: Obesity and metabolic syndrome were observed in 42.3% and 26.8% of patients, respectively. Body mass index was positively correlated with blood pressure, triglyceride, LDL-c, total cholesterol, glucose and insulin levels as well as HOMA-IR values and inversely correlated with HDL-c and SHBG levels. The BclI and A3669G variants were found in 24.7% and 13.4% of alleles, respectively. BclI carriers presented a lower frequency of insulin resistance compared with wild-type subjects. CONCLUSION: The BclI variant is associated with a lower frequency of insulin resistance in women with polycystic ovary syndrome. Glucocorticoid gene polymorphism screening during treatment of the syndrome may be useful for identifying subgroups of at-risk patients who would benefit the most from personalized treatment.

  15. Deafness genes in Israel: implications for diagnostics in the clinic.

    Science.gov (United States)

    Brownstein, Zippora; Avraham, Karen B

    2009-08-01

    The identification of the molecular basis of deafness in the last decade has made a remarkable impact on genetic counseling and diagnostics for the hearing impaired population. Since the discovery of the most prevalent form of deafness associated with mutations in the GJB2 (connexin 26) gene, many other genes have been found worldwide, with a subset of these, including unique mutations, in Israel. Here, we review the current status of deafness genes in Israel and report one known mutation in a syndromic form of deafness, Usher syndrome, described in the Jewish Israeli population for the first time. In the future, the identification of specific mutations may be relevant for specific types of treatment.

  16. Radiation-Induced Bystander Response: Mechanism and Clinical Implications

    OpenAIRE

    Suzuki, Keiji; Yamashita, Shunichi

    2014-01-01

    Significance: Absorption of energy from ionizing radiation (IR) to the genetic material in the cell gives rise to damage to DNA in a dose-dependent manner. There are two types of DNA damage; by a high dose (causing acute or deterministic effects) and by a low dose (related to chronic or stochastic effects), both of which induce different health effects. Among radiation effects, acute cutaneous radiation syndrome results from cell killing as a consequence of high-dose exposure.

  17. The metabolic syndrome: validity and utility of clinical definitions for cardiovascular disease and diabetes risk prediction.

    Science.gov (United States)

    Cameron, Adrian

    2010-02-01

    The purpose of clinical definitions of the metabolic syndrome is frequently misunderstood. While the metabolic syndrome as a physiological process describes a clustering of numerous age-related metabolic abnormalities that together increase the risk for cardiovascular disease and type 2 diabetes, clinical definitions include obesity which is thought to be a cause rather than a consequence of metabolic disturbance, and several elements that are routinely measured in clinical practice, including high blood pressure, high blood glucose and dyslipidaemia. Obesity is frequently a central player in the development of the metabolic syndrome and should be considered a key component of clinical definitions. Previous clinical definitions have differed in the priority given to obesity. Perhaps more importantly than its role in a clinical definition, however, is obesity in isolation before the hallmarks of metabolic dysfunction that typify the syndrome have developed. This should be treated seriously as an opportunity to prevent the consequences of the global diabetes epidemic now apparent. Clinical definitions were designed to identify a population at high lifetime CVD and type 2 diabetes risk, but in the absence of several major risk factors for each condition, are not optimal risk prediction devices for either. Despite this, the metabolic syndrome has several properties that make it a useful construct, in conjunction with short-term risk prediction algorithms and sound clinical judgement, for the identification of those at high lifetime risk of CVD and diabetes. A recently published consensus definition provides some much needed clarity about what a clinical definition entails. Even this, however, remains a work in progress until more evidence becomes available, particularly in the area of ethnicity-specific waist cut-points. Copyright 2009 Elsevier Ireland Ltd. All rights reserved.

  18. Gastrointestinal Motility Disorders and Their Clinical Implications in Cirrhosis

    Directory of Open Access Journals (Sweden)

    Eleni Theocharidou

    2017-01-01

    Full Text Available Gastrointestinal motility is impaired in a substantial proportion of patients with cirrhosis. Cirrhosis-related autonomic neuropathy, increased nitric oxide production, and gut hormonal changes have been implicated. Oesophageal dysmotility has been associated with increased frequency of abnormal gastro-oesophageal reflux. Impaired gastric emptying and accommodation may result in early satiety and may have an impact on the nutritional status of these patients. Small intestinal dysmotility might be implicated in small intestinal bacterial overgrowth and increased bacterial translocation. The latter has been implicated in the pathophysiology of hepatic encephalopathy and spontaneous bacterial peritonitis. Enhanced colonic motility is usually associated with the use of lactulose. Pharmacological interventions aiming to alter gastrointestinal motility in cirrhosis could potentially have a beneficial effect reducing the risk of hepatic decompensation and improving prognosis.

  19. Hormonal and adiposity state of women with polycystic ovary syndrome: implication of adiponectin and leptin

    Directory of Open Access Journals (Sweden)

    Aleksandra Atanasova Boshku

    2016-12-01

    Full Text Available Obesity and insulin resistance are frequently seen comorbidities in patients with polycystic ovary syndrome (PCOS, affecting the already disturbed metabolism of these patients. Disturbed secretion of adiponectin and leptin could be one of the contributing factors of obesity and insulin resistance in patients with PCOS. The aim of this study was to determine the levels of adiponectin and leptin in PCOS patients, as well as their association with other components of the syndrome. This cross-sectional study determined clinical, hormonal, and biochemical markers in 61 women with PCOS and 56 controls. There was a statistically significant difference in adiponectin and leptin between the groups (p>0.001. There was a significant negative correlation between adiponectin, body mass index (BMI, and waist circumference (r= -0.478; -0.452, p<0.001 and a negative correlation with testosterone, free androgen index (FAI, insulin, and the homeostasis model assessment for insulin resistance (HOMA-IR. A positive correlation between adiponectin, sex hormone binding globulin (SHGB, and fasting glucose levels was present. Correlation analysis of leptin with other metabolic parameters showed a positive correlation with BMI, waist circumference, insulin, and HOMA-IR. A significant inverse correlation was present between leptin and SHGB. In conclusion, adiponectin and leptin may serve as potential biomarkers of insulin resistance. Determining levels of adiponectin and leptin in the early course of this syndrome may enable earlier diagnosis of insulin resistance, or even early prevention in PCOS patients.

  20. Complete atrioventricular block in acute coronary syndrome: prevalence, characterisation and implication on outcome.

    Science.gov (United States)

    Aguiar Rosa, Silvia; Timóteo, Ana Teresa; Ferreira, Lurdes; Carvalho, Ramiro; Oliveira, Mario; Cunha, Pedro; Viveiros Monteiro, André; Portugal, Guilherme; Almeida Morais, Luis; Daniel, Pedro; Cruz Ferreira, Rui

    2018-04-01

    The aim was to characterise acute coronary syndrome patients with complete atrioventricular block and to assess the effect on outcome. Patients admitted with acute coronary syndrome were divided according to the presence of complete atrioventricular block: group 1, with complete atrioventricular block; group 2, without complete atrioventricular block. Clinical, electrocardiographic and echocardiographic characteristics and prognosis during one year follow-up were compared between the groups. Among 4799 acute coronary syndrome patients admitted during the study period, 91 (1.9%) presented with complete atrioventricular block. At presentation, group 1 patients presented with lower systolic blood pressure, higher Killip class and incidence of syncope. In group 1, 86.8% presented with ST-segment elevation myocardial infarction (STEMI), and inferior STEMI was verified in 79.1% of patients in group 1 compared with 21.9% in group 2 ( Pblock was observed in 7.3% in contrast to 2.5% in patients submitted to primary percutaneous coronary intervention ( Pblock was an independent predictor of hospital mortality (odds ratio 3.671; P=0.045). There was no significant difference in mortality at one-year follow-up between the study groups. Complete atrioventricular block conferred a worse outcome during hospitalisation, including a higher incidence of cardiogenic shock, ventricular arrhythmias and death.

  1. The recognition of autism in children with Down syndrome--implications for intervention and some speculations about pathology.

    Science.gov (United States)

    Howlin, P; Wing, L; Gould, J

    1995-05-01

    Although autism can occur in conjunction with a range of other conditions, the association with Down syndrome is generally considered to be relatively rare. Four young boys with Down syndrome are described who were also autistic. All children clearly fulfilled the diagnostic criteria for autism required by the ICD-10 or DSM-III-R, but in each case the parents had faced considerable difficulties in obtaining this diagnosis. Instead, the children's problems had been attributed to their cognitive delays, despite the fact that their behaviour and general progress differed from other children with Down syndrome in many important aspects. The implications, for both families and children, of the failure to diagnose autism when it co-occurs with other conditions such as Down syndrome are discussed. Some speculations about possible pathological associations are also presented.

  2. Clinical characteristics of two probable cases of Angelman syndrome in the Hospital Nacional de Ninos

    International Nuclear Information System (INIS)

    Midence-Cerda, Marvin; Brian-Gago, Roberto

    2004-01-01

    Angelman Syndrome is a severe neurological disorder. No other case has been reported in our country until now. There are two children reported with the clinical suspicion of Angelman Syndrome. They were treated at the Departamento de Neurologia del Hospital Nacional de Ninos. The information was taken from their medical records. The two patients present the four cardinal clinical features, including severe developmental delay, profound speech impairment, ataxia and a happy, sociable disposition. In addition, the patients displayed other characteristics: seizures associated with a typical spike and slow wave activity on EEG an love for water. The clinical diagnosis is difficult because other disorders can mimic the features of Angelman Syndrome. Nonetheless, at an early age, the behavioral phenotype of happy disposition and hyperexcitability is the most important manifestation and appears to be decisive in the differential diagnosis of patients with psychomotor and language delay. (author) [es

  3. [Clinical features of a Chinese pedigree with Waardenburg syndrome type 2].

    Science.gov (United States)

    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.

  4. Skin signs in Ehlers-Danlos syndrome: clinical tests and para-clinical methods

    DEFF Research Database (Denmark)

    Remvig, Lars; Duhn, Ph; Ullman, S

    2010-01-01

    Objective: The criteria for Ehlers-Danlos syndrome (EDS) and the hypermobility syndrome (HMS) should be reliable. Examination for general joint hypermobility has high reliability but there is only sparse information on the reliability of skin tests, and no information on the level of normal skin...

  5. Skin signs in Ehlers-Danlos syndrome: clinical tests and para-clinical methods

    DEFF Research Database (Denmark)

    Remvig, L; Duhn, Ph; Ullman, S

    2010-01-01

    The criteria for Ehlers-Danlos syndrome (EDS) and the hypermobility syndrome (HMS) should be reliable. Examination for general joint hypermobility has high reliability but there is only sparse information on the reliability of skin tests, and no information on the level of normal skin extensibility...

  6. A gene expression signature for RSV: clinical implications and limitations.

    Directory of Open Access Journals (Sweden)

    Peter J M Openshaw

    2013-11-01

    Full Text Available Peter Openshaw discusses the challenges in advancing respiratory syncytial virus (RSV treatments and the implications of a study by Mejias and colleagues using a newly identified gene signature for diagnosis and prediction of RSV severity. Please see later in the article for the Editors' Summary.

  7. Sexual Objectification of Women: Clinical Implications and Training Considerations

    Science.gov (United States)

    Szymanski, Dawn M.; Carr, Erika R.; Moffitt, Lauren B.

    2011-01-01

    This article focuses on the implications of theory and empirical research on the sexual objectification of women. Drawing largely from the American Psychological Association's 2007 "Guidelines for Psychological Practice With Girls and Women," the 2007 "Report of the American Psychological Association's Task Force on the Sexualization of Girls,"…

  8. Universal Versus Targeted Screening for Lynch Syndrome: Comparing Ascertainment and Costs Based on Clinical Experience.

    Science.gov (United States)

    Erten, Mujde Z; Fernandez, Luca P; Ng, Hank K; McKinnon, Wendy C; Heald, Brandie; Koliba, Christopher J; Greenblatt, Marc S

    2016-10-01

    Strategies to screen colorectal cancers (CRCs) for Lynch syndrome are evolving rapidly; the optimal strategy remains uncertain. We compared targeted versus universal screening of CRCs for Lynch syndrome. In 2010-2011, we employed targeted screening (age Lynch syndrome and estimated the 5-year costs of preventing CRC by colonoscopy screening, using a system dynamics model. Using targeted screening, 51/175 (29 %) cancers fit criteria and were tested by immunohistochemistry; 15/51 (29 %, or 8.6 % of all CRCs) showed suspicious loss of ≥1 mismatch repair protein. Germline mismatch repair gene mutations were found in 4/4 cases sequenced (11 suspected cases did not have germline testing). Using universal screening, 17/292 (5.8 %) screened cancers had abnormal immunohistochemistry suspicious for Lynch syndrome. Germline mismatch repair mutations were found in only 3/10 cases sequenced (7 suspected cases did not have germline testing). The mean cost to identify Lynch syndrome probands was ~$23,333/case for targeted screening and ~$175,916/case for universal screening at our institution. Estimated costs to identify and screen probands and relatives were: targeted, $9798/case and universal, $38,452/case. In real-world Lynch syndrome management, incomplete clinical follow-up was the major barrier to do genetic testing. Targeted screening costs 2- to 7.5-fold less than universal and rarely misses Lynch syndrome cases. Future changes in testing costs will likely change the optimal algorithm.

  9. Clinical characteristics of three patients with UVs syndrome, a photosensitive disorder with defective DNA repair

    International Nuclear Information System (INIS)

    Itoh, T.; Yamaizumi, M.; Hiro-oka, M.; Matsui, T.; Matsuno, M.; Ono, T.; Ichihashi, M.

    1996-01-01

    Recently, we established a new category of photosensitive disorder termed UVsup(s) syndrome. Cells from patients with UVsup(s) syndrome have a similar UV sensitivity as xeroderma pigmentosum (XP) cells, but have a normal level of unscheduled DNA synthesis (UDS) unlike XP. UVsup(s) syndrome is distinct from Cockayne syndrome (CS) or XP including XP variant (XP-V) as determined by studies of genetic factors using cell fusion, microinjection, and postreplication repair assays. In this study, we identified three japanese patients with UVsup(s) syndrome: an 11-year-old girl, a 17 year old male, and an 8-year-old boy. The first two patients were siblings, while the third was a case from a different family. All of these patients exhibited acute recurrent sunburn. Common clinical manifestations of the patients were slight erythema and dryness, a number of freckles on sun-exposed areas, and slight telangiectasia only seen on the cheek and nose. Patient 3 showed a lowered minimal erythema dose between 280 and 300 nm. The patients' fibroblasts showed similar characteristics to those in CS, such as UV sensitivity, and a failure of RNA synthesis (RRS) after UV irradiation, despite a normal level of UDS. Thus, UVsup(s) syndrome is a new hereditary photosensitive disorder with clinical manifestations similar to a mild form of Xp but showing the cellular characteristics of CS. (Author)

  10. Neuroleptic Malignant Syndrome: A Case Aimed at Raising Clinical Awareness

    Directory of Open Access Journals (Sweden)

    Jad Al Danaf

    2015-01-01

    Full Text Available A 60-year-old man with a history of bipolar disorder on risperidone, bupropion, and escitalopram was admitted for community acquired streptococcal pneumonia. Four days later, he developed persistent hyperthermia, dysautonomia, rigidity, hyporeflexia, and marked elevation of serum creatine phosphokinase. He was diagnosed with neuroleptic malignant syndrome (NMS and improved with dantrolene, bromocriptine, and supportive therapy. This case emphasizes the importance of considering a broad differential diagnosis for fever in the ICU, carefully reviewing the medication list for all patients, and considering NMS in patients with fever and rigidity.

  11. Joubert syndrome: large clinical variability and a unique neuroimaging aspect

    International Nuclear Information System (INIS)

    Leao, Emilia Katiane Embirucu; Lima, Marcilia Martyn; Kok, Fernando; Parizotto, Juliana; Maia Junior, Otacilio de Oliveira

    2010-01-01

    Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g. pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnoea and hyperpnoea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise. (author)

  12. Clinical manifestations of Ellis-van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Vinay C

    2009-01-01

    Full Text Available Ellis-van Creveld syndrome (EVC is a chondro-ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation and ectodermal and heart defects. It is a rare disease complex and very few cases have been reported in dental literature. This condition is inherited as an autosomal recessive trait with variable expression. The present case report describes EVC in a 7-year-old girl, with all the tetrad of cardinal features. We found a rare dental aberration in form; appearance of single conical roots in primary molars. The management of children with EVC is multidisciplinary, with consideration for the high incidence of cardiac defects in these patients.

  13. Joubert syndrome: large clinical variability and a unique neuroimaging aspect

    Energy Technology Data Exchange (ETDEWEB)

    Leao, Emilia Katiane Embirucu; Lima, Marcilia Martyn; Kok, Fernando; Parizotto, Juliana [University of Sao Paulo (USP), Sao Paulo, SP (Brazil). Clinical Hospital. Dept. of Child Neurology; Maia Junior, Otacilio de Oliveira [University of Sao Paulo (USP), Sao Paulo, SP (Brazil). Clinical Hospital. Dept. of Child Ophthalmology

    2010-04-15

    Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g. pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnoea and hyperpnoea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise. (author)

  14. Clinical Study on 1 Case of Klippel-Trenaunay-Weber Syndrome

    Directory of Open Access Journals (Sweden)

    Chang-Kil, Yoo

    2002-12-01

    Full Text Available Objective : This study was performed to evaluate the treatment of Acupuncture therapy including Herbal Acupuncture theraphy and Korean Bee Venom Theraphy in Klippel-Trenaunay-Weber Syndrome. Methods : We treated 1 case of Klippel-Trenaunay-Weber Syndrome patient with mainly Korean Bee Venom Theraphy, and herbal Acupuncture, acupuncture theraphy from 27th August, 2001 to February, 2003. Results : After 3 weeks of Korean Bee Venom Theraphy, and herbal Acupuncture, acupuncture theraphy, a remarkable improvement was made for Klippel-Trenaunay-Weber Syndrome. Conclusions : Korean Bee Venom Theraphy and other acupuncture therapies were effective in reducing the symptoms. We think that it need the further study and clinical trial for Klippel-Trenaunay-Weber Syndrome.

  15. Clinical and ultrasound features in patients with intersection syndrome or de Quervain's disease.

    Science.gov (United States)

    Sato, J; Ishii, Y; Noguchi, H

    2016-02-01

    We investigated the demographic characteristics of patients who were diagnosed with intersection syndrome and also investigated the dominance of the affected hand, duration of symptoms and any precipitating factor for pain of the wrist. These features were compared with patients who had de Quervain's disease. Ultrasonography was used to confirm the clinical diagnosis. Intersection syndrome occurred more frequently in men and in the dominant hand than de Quervain's disease when all the patients were compared and when peripartum women were excluded. It occurred at a younger age than de Quervain's disease only when the comparison excluded peripartum women. Patients with intersection syndrome presented with a much shorter duration of symptoms. These results were consistent with previous reports about occupational factors in intersection syndrome, and might be helpful in the understanding of epidemiological difference between the two conditions. Level 3. © The Author(s) 2015.

  16. Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.

    Science.gov (United States)

    d'Annunzio, Giuseppe; Minuto, Nicola; D'Amato, Elena; de Toni, Teresa; Lombardo, Fortunato; Pasquali, Lorenzo; Lorini, Renata

    2008-09-01

    Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by diabetes insipidus, diabetes (nonautoimmune), optic atrophy, and deafness (a set of conditions referred to as DIDMOAD). The WFS1 gene is located on the short arm of chromosome 4. Wolfram syndrome prevalence is 1 in 770,000 live births, with a 1 in 354 carrier frequency. We evaluated six Italian children from five unrelated families. Genetic analysis for Wolfram syndrome was performed by PCR amplification and direct sequencing. Mutation screening revealed five distinct variants, one novel mutation (c.1346C>T; p.T449I) and four previously described, all located in exon 8. Phenotype-genotype correlation is difficult, and the same mutation gives very different phenotypes. Severely inactivating mutations result in a more severe phenotype than mildly inactivating ones. Clinical follow-up showed the progressive syndrome's seriousness.

  17. Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome

    International Nuclear Information System (INIS)

    Wu, Hong; Zeng, Hong; Lam, Robert; Tempel, Wolfram; Kerr, Iain D.; Min, Jinrong

    2015-01-01

    The crystal structure of the human MLH1 N-terminus is reported at 2.30 Å resolution. The overall structure is described along with an analysis of two clinically important mutations. Mismatch repair prevents the accumulation of erroneous insertions/deletions and non-Watson–Crick base pairs in the genome. Pathogenic mutations in the MLH1 gene are associated with a predisposition to Lynch and Turcot’s syndromes. Although genetic testing for these mutations is available, robust classification of variants requires strong clinical and functional support. Here, the first structure of the N-terminus of human MLH1, determined by X-ray crystallography, is described. The structure shares a high degree of similarity with previously determined prokaryotic MLH1 homologs; however, this structure affords a more accurate platform for the classification of MLH1 variants

  18. Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wu, Hong; Zeng, Hong; Lam, Robert; Tempel, Wolfram [University of Toronto, 101 College Street, Toronto, ON M5G 1L7 (Canada); Kerr, Iain D., E-mail: ikerr@myriad.com [Myriad Genetic Laboratories Inc., 320 Wakara Way, Salt Lake City, UT 84108 (United States); Min, Jinrong, E-mail: ikerr@myriad.com [University of Toronto, 101 College Street, Toronto, ON M5G 1L7 (Canada); University of Toronto, Toronto, ON M5G 1L7 (Canada)

    2015-07-28

    The crystal structure of the human MLH1 N-terminus is reported at 2.30 Å resolution. The overall structure is described along with an analysis of two clinically important mutations. Mismatch repair prevents the accumulation of erroneous insertions/deletions and non-Watson–Crick base pairs in the genome. Pathogenic mutations in the MLH1 gene are associated with a predisposition to Lynch and Turcot’s syndromes. Although genetic testing for these mutations is available, robust classification of variants requires strong clinical and functional support. Here, the first structure of the N-terminus of human MLH1, determined by X-ray crystallography, is described. The structure shares a high degree of similarity with previously determined prokaryotic MLH1 homologs; however, this structure affords a more accurate platform for the classification of MLH1 variants.

  19. Clinical management of behavioral characteristics of Prader–Willi syndrome

    Directory of Open Access Journals (Sweden)

    Alan Y Ho

    2010-04-01

    Full Text Available Alan Y Ho, Anastasia DimitropoulosDepartment of Psychology, Case Western Reserve University, Cleveland, OH, USAAbstract: Prader–Willi syndrome (PWS is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11–q13 that results in a host of phenotypic characteristics, dominated primarily by hyperphagia and insatiable appetite. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, difficulty with a change in routine, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. Individuals with PWS typically have intellectual disabilities (borderline to mild/moderate mental retardation and exhibit a higher overall behavior disturbance compared to individuals with similar intellectual disability. Due to its multisystem disorder, family members, caregivers, physicians, dieticians, and speech-language pathologists all play an important role in the management and treatment of symptoms in an individual with PWS. This article reviews current research on behavior and cognition in PWS and discusses management guidelines for this disorder.Keywords: Prader–Willi syndrome; neurodevelopment, hyperphagia, disability

  20. BASED TO CLINICAL CASE. VON HIPLEA-LINDAU SYNDROME

    Directory of Open Access Journals (Sweden)

    Brzeziński Piotr

    2011-01-01

    Full Text Available von Hippel-Lindau syndrome (VHL is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis. The tumors of the central nervous system (CNS are benign and are comprised of a nest of blood vessels and are called hemangioblastomas. Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among patients and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Cysts (fluid-filled sacs and/or tumors (benign or cancerous may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer. Based on the case of 30-year old patient with characteristics of von Hippel-Lindau syndrome as phakomatosis.

  1. [Convenience clinic redefine polycystic ovary syndrome (Stein-Leventhal)].

    Science.gov (United States)

    Zárate-Treviño, Arturo; Hernández-Valencia, Marcelino; Morán, Carlos; Manuel, Leticia; Saucedo, Renata

    2014-04-01

    In 1935 during a medical meeting behalf in New Orleans was presents a study that included seven cases of women that suffered menstrual dysfunctions, hirsutism and sterility, for laparotomy the description of the ovaries had a pearly white color and it was hypertrophic, the cuneiform resection in both ovaries resulted in correction of the menstrual dysfunction and two of them got pregnancy later on, receiving the name of polycystic ovary syndrome (PCOS). The technological advance facilitates the hormonal analyses demonstrating the hyperandrogenism existence and the mechanism of the anovulation, the PCOS showed to be heterogeneous, reason why it was hindered to define it, this advanced the current trend to question the existence of the PCOS and to accept the convenience, either to change the name or to redefine it, leaving it as a simple syndrome with several phenotypes. The endocrine component includes abnormal secretion of insulin and consequently outlying resistance to this hormone, likewise is hyperandrogenism, dislipoproteinemia and obesity. The hormonal exams are unnecessary for the diagnostic and treatment; it is convenient to demonstrate for sonography the ovarian growth. Other dysfunctions like the congenital suprarenal hyperplasia, hyperprolactinemia and hypotiroidism should be discarded. The treatment should be individualized with relationship to the reason of the consultation and the patients age. It has not been demonstrated that the sensibilitizers use to the insulin avoids long term cardiovascular illness and diabetes. Therefore, the phenotype is heterogeneous with a fickle metabolic component and for it has arisen the restlessness of a better definition of the SPO.

  2. A Rare Disorder with Common Clinical Presentation: Neonatal Bartter Syndrome.

    Science.gov (United States)

    Hussain, Shabbir; Tarar, Saba Haider; Al-Muhaizae, Muhammad

    2015-04-01

    Bartter syndrome is an autosomal recessive renal tubulopathy that presents with hypokalemic, hypochloremic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninemia and hyperaldosteronemia but normotension. A full term male neonate was referred at 20-day of age with features of sepsis and respiratory distress. He was evaluated and managed as case of septicemia with all supportive paraphernalia including mechanical ventilation. Investigations revealed electrolytes imbalance and metabolic alkalosis suggestive of Neonatal Bartter Syndrome (NBS). Raised aldosterone and renin levels confirmed the diagnosis. Electrolyte imbalance was corrected with fluids and indomethacin, treated successfully, discharged and parents counseled. He was thriving well at 9 months of age. Another 2 months old male baby presented with recurrent episodes of lethargy with dehydration and failure to gain weight. Investigations confirmed the diagnosis of NBS. He was also successfully treated with same medication. We report these 2 cases because of the rarity of NBS, presentation of which may mimic common illnesses like sepsis and gastroenteritis.

  3. Cerebrospinal fluid anti-Epstein-Barr virus specific oligoclonal IgM and IgG bands in patients with clinically isolated and Guillain-Barré syndrome.

    Science.gov (United States)

    Ferraro, Diana; Galli, Veronica; Simone, Anna Maria; Bedin, Roberta; Vitetta, Francesca; Merelli, Elisa; Nichelli, Paolo Frigio; Sola, Patrizia

    2017-04-01

    Epstein-Barr virus (EBV) has been implicated in multiple sclerosis (MS) pathogenesis. We aimed to assess the frequency of EBV-specific IgG and IgM oligoclonal bands (OCB) in cerebrospinal fluid (CSF) of 50 patients with clinically isolated syndrome (CIS) and in 27 controls with Guillain-Barré syndrome (GBS). Furthermore, we assessed correlations between the presence of OCB and CIS patients' CSF, MRI, and clinical variables. There was no difference in the proportion of CIS and GB patients with positivity for anti-EBV-specific IgG/IgM OCB. There were no correlations between OCB and analyzed variables, nor were they predictive of a higher disability at 3 years.

  4. Metabolic syndrome: frequency and gender differences at an out-patient clinic

    International Nuclear Information System (INIS)

    Jahan, F.; Qureshi, R.; Borhany, T.; Hamza, H.B.

    2007-01-01

    To determine the frequency of metabolic syndrome among patients attending an out-patient clinic of a teaching hospital and to compare the clinical features regarding metabolic syndrome among males and females. All adults, above 25 years, attending the clinics for an executive check-up and giving informed consent were included in the study. Data was collected through a structured questionnaire administered to those eligible to participate. Metabolic syndrome was defined according to ATP-III guidelines. There were 250 participants in this study. Mean age of study participants was 48.94 (SD10.62) years, while approximately two-thirds, 157 (62.8%), were male. Metabolic syndrome (those who had 3 or more risk factors) was present in 35.2% of adults. Fasting blood sugar level was raised in 36.4% of study participants while significant number of participants (78.8%) had a Body Mass Index (BMI) Z 25 (p = 0.02). Frequency of metabolic syndrome was significantly high in this study with preponderance of males and prevalence similar to that observed in developed countries. Majority of patients had obesity and high fasting blood sugar levels. Males demonstrated higher levels of triglycerides and low levels of High-density lipoprotein (HDL) compared to females while blood pressure reading was observed to be the same in both males and females. (author)

  5. Clinical practice guidelines for the management of acute limb compartment syndrome following trauma.

    Science.gov (United States)

    Wall, Christopher J; Lynch, Joan; Harris, Ian A; Richardson, Martin D; Brand, Caroline; Lowe, Adrian J; Sugrue, Michael

    2010-03-01

    Acute compartment syndrome is a serious and not uncommon complication of limb trauma. The condition is a surgical emergency, and is associated with significant morbidity if not managed appropriately. There is variation in management of acute limb compartment syndrome in Australia. Clinical practice guidelines for the management of acute limb compartment syndrome following trauma were developed in accordance with Australian National Health and Medical Research Council recommendations. The guidelines were based on critically appraised literature evidence and the consensus opinion of a multidisciplinary team involved in trauma management who met in a nominal panel process. Recommendations were developed for key decision nodes in the patient care pathway, including methods of diagnosis in alert and unconscious patients, appropriate assessment of compartment pressure, timing and technique of fasciotomy, fasciotomy wound management, and prevention of compartment syndrome in patients with limb injuries. The recommendations were largely consensus based in the absence of well-designed clinical trial evidence. Clinical practice guidelines for the management of acute limb compartment syndrome following trauma have been developed that will support consistency in management and optimize patient health outcomes.

  6. Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice.

    Science.gov (United States)

    Cohen, Stacey A; Laurino, Mercy; Bowen, Deborah J; Upton, Melissa P; Pritchard, Colin; Hisama, Fuki; Jarvik, Gail; Fichera, Alessandro; Sjoding, Britta; Bennett, Robin L; Naylor, Lorraine; Jacobson, Angela; Burke, Wylie; Grady, William M

    2016-02-01

    Lynch syndrome confers a hereditary predisposition to colorectal and other cancers. Universal tumor screening (UTS) for Lynch syndrome is recommended by several professional societies, but the implementation can be complex. This article describes the evaluation, process development, and initiation of Lynch syndrome UTS at a tertiary referral cancer center. A multidisciplinary team developed the new process design. Issues in 5 themes were noted: timing, funding, second-opinion patients, result processing, and the role of genetics providers. A committee approach was used to examine each issue for process-improvement development. The issues related to testing were addressed individually for the successful implementation of UTS at the institutional level. In the conventional-care period, 9 of 30 cases (30%) received Lynch syndrome screening, and 4 cases were referred to medical genetics. During the 6 months following the implementation of UTS, 32 of 44 patients (73%) received Lynch syndrome screening. The 13 unscreened patients all had identified reasons for nonscreening (eg, financial limitations). Ten patients were referred to medical genetics, which identified no new cases of Lynch syndrome, but a low-risk adenomatous polyposis coli (APC) variant was detected in 1 individual. The implementation of effective Lynch syndrome UTS can feasibly alter practice at the institutional level. This experience with the assessment and management of issues relevant to the successful implementation of a new clinical care paradigm based on emerging technology has implications for the uptake of advances across molecular oncology into clinical practice, and this is highly relevant in the current era of rapidly evolving genomic technology. © 2015 American Cancer Society.

  7. Clinical Implications of Intestinal Stem Cell Markers in Colorectal Cancer

    DEFF Research Database (Denmark)

    Espersen, Maiken Lise Marcker; Olsen, Jesper; Linnemann, Dorte

    2015-01-01

    Colorectal cancer (CRC) still has one of the highest incidence and mortality rate among cancers. Therefore, improved differential diagnostics and personalized treatment are still needed. Several intestinal stem cell markers have been found to be associated with CRC and might have a prognostic...... and predictive significance in CRC patients. This review provides an overview of the intestinal stem cell markers leucine-rich repeat-containing G-protein-coupled receptor 5 (LGR5), B cell–specific Moloney murine leukemia virus insertion site 1 (BMI1), Musashi1 (MSI1), and sex-determining region y-box 9 (SOX9......) and their implications in human CRC. The exact roles of the intestinal stem cell markers in CRC development and progression remain unclear; however, high expression of these stem cell markers have a potential prognostic significance and might be implicated in chemotherapy resistance...

  8. Down syndrome in black South African infants and children - clinical ...

    African Journals Online (AJOL)

    Province. All infants had been referred for clinical assessment and counselling of the parents. As part of the clinical evaluation the patients' mothers were questioned by the author using a structured interview to collect biographical information, establish the infants' birth order, and ascertain when the mother first became.

  9. Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea

    Energy Technology Data Exchange (ETDEWEB)

    Guimaraes, Carolina V.A. [Medical Center, Department of Radiology, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Donnelly, Lane F. [Medical Center, Department of Radiology, Cincinnati, OH (United States); Medical Center, Department of Pediatrics, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Shott, Sally R. [Medical Center, Division of Otolaryngology, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Amin, Raouf S.; Kalra, Maninder [Medical Center, Department of Pediatrics, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States)

    2008-10-15

    Children with Down syndrome are described as having macroglossia as well as midface hypoplasia. We reviewed anatomic parameters on MRI to determine whether adolescents with Down syndrome have true macroglossia or relatively large tongues compared to the small size of their oral cavity. This has implications for the treatment of obstructive sleep apnea, which occurs at a relatively high rate among patients with Down syndrome. To determine whether adolescents with Down syndrome have relative rather than true macroglossia. On sagittal and axial MR images, parameters for tongue size (area in sagittal midline), the bony craniofacial confines of the retroglossal pharynx (distance between the mandibular rami and distance between the posterior aspect of the mental mandible and the anterior aspect of the spine), and the size of the tongue relative to the craniofacial bony parameters [tongue area/(transverse diameter x anterior-to-posterior diameter)] were compared between 16 patients with Down syndrome and 16 age- and gender-matched controls. The tongue area was significantly smaller in patients with Down syndrome (2,432 mm{sup 2}) than in the control patients (2,767 mm{sup 2}; P=0.02). The craniofacial bony parameters were also smaller in patients with Down syndrome than in the controls (left-right 69.8 vs. 80.1 mm, P<0.001; anterior-posterior 64.2 vs. 74.9 mm, P<0.001). However, the size of the tongue relative to the craniofacial parameters was larger in the patients with Down syndrome (0.54) than in the controls (0.46; P<0.001). Children with Down syndrome do not have true macroglossia but have relatively large tongues compared to the bony confines of the oral cavity. (orig.)

  10. Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea

    International Nuclear Information System (INIS)

    Guimaraes, Carolina V.A.; Donnelly, Lane F.; Shott, Sally R.; Amin, Raouf S.; Kalra, Maninder

    2008-01-01

    Children with Down syndrome are described as having macroglossia as well as midface hypoplasia. We reviewed anatomic parameters on MRI to determine whether adolescents with Down syndrome have true macroglossia or relatively large tongues compared to the small size of their oral cavity. This has implications for the treatment of obstructive sleep apnea, which occurs at a relatively high rate among patients with Down syndrome. To determine whether adolescents with Down syndrome have relative rather than true macroglossia. On sagittal and axial MR images, parameters for tongue size (area in sagittal midline), the bony craniofacial confines of the retroglossal pharynx (distance between the mandibular rami and distance between the posterior aspect of the mental mandible and the anterior aspect of the spine), and the size of the tongue relative to the craniofacial bony parameters [tongue area/(transverse diameter x anterior-to-posterior diameter)] were compared between 16 patients with Down syndrome and 16 age- and gender-matched controls. The tongue area was significantly smaller in patients with Down syndrome (2,432 mm 2 ) than in the control patients (2,767 mm 2 ; P=0.02). The craniofacial bony parameters were also smaller in patients with Down syndrome than in the controls (left-right 69.8 vs. 80.1 mm, P<0.001; anterior-posterior 64.2 vs. 74.9 mm, P<0.001). However, the size of the tongue relative to the craniofacial parameters was larger in the patients with Down syndrome (0.54) than in the controls (0.46; P<0.001). Children with Down syndrome do not have true macroglossia but have relatively large tongues compared to the bony confines of the oral cavity. (orig.)

  11. [Professor ZHENG Kuishan's experience in the clinical treatment of bi syndrome with acupuncture and moxibustion].

    Science.gov (United States)

    Liu, Baohu; Zheng, Jiatai; Guo, Yongming

    2015-06-01

    Professor ZHENG Kuishan has been engaged in the education and clinical practice of acupuncture and moxibustion for over 60 years. Professor ZHENG is strict in scholarly research and exquisite in medical techniques and he is good at treatment of bi syndrome induced by invasion of wind, cold and damp with warming and, promoting therapy. He emphasizes on syndrome differentiation and acupoint combination and selects the accurate manipulations. Not only are the symptoms relieved apparently, but also the body state is improved. As a result, the primary and secondary are treated simultaneously. In the paper, professor ZHENG's experience is introduced in the treatment of bi syndrome in the aspects of theory, method, formula, acupoint and technique. And his clinical therapeutic approaches have been deeply analyzed.

  12. The clinical value of pulmonary perfusion imaging complicated with pulmonary embolism in children of nephrotic syndrome

    International Nuclear Information System (INIS)

    Lin Jun; Chen Ning; Miao Weibing; Peng Jiequan; Jiang Zhihong; Wu Jing

    2001-01-01

    To investigate the clinical features of complicated with pulmonary embolism nephrotic syndrome in children. 99m Tc-MAA pulmonary perfusion imaging was performed on 30 nephrotic syndrome in children with elevated plasma D-dimer. Results shown that 14 of 30 patients were found to have pulmonary embolism (46.7%). Pulmonary perfusion imaging showed an involvement of 1 pulmonary segment in 3 cases, 2 segments in 2 cases and over 3 segments in other 9 cases. Among them, there were 7 segments involved in one case. After two weeks of heparin anti-coagulative therapy, most cases showed a recovery. The result of this study suggested that pulmonary embolism is a common complication of nephrotic syndrome. Pulmonary perfusion imaging is simple, effective and accurate method for the diagnosis of pulmonary embolism, and it also can help to assess the value of clinical therapy

  13. Clinical and radiological findings in a case of non-syndromic oligodontia

    International Nuclear Information System (INIS)

    Jimenez Carrillo, Francisco J.

    2002-01-01

    A case of congenital absence of eleven dental pieces without association to syndromes is presented. An integral clinical examination of the patient's dental pieces has determined a case of oligodontia. Congenital absence of all permanent teeth described in the clinical examination are presented by orthopantomography radiography. Impressions with irreversible hydrocolloid are realized to complete the diagnostic. The case described of oligodontia has developed without presenting relation to some syndrome as Down syndrome or ectodermal dysplasia. Genes have played a very important role in the etiology of dental anomalies, according to the existing evidence. Mutation has been identified as the cause of dental defects in some of the genes in humans. The maxillary teeth developed in the marginal areas of the dental lamina have pretended to be the dental pieces more susceptible to be without form [es

  14. Risk factors for treatment related clinical fluctuations in Guillain-Barré syndrome. Dutch Guillain-Barré study group

    NARCIS (Netherlands)

    L.H. Visser (Leendert); F.G.A. van der Meché (Frans); J. Meulstee (Jan); P.A. van Doorn (Pieter)

    1998-01-01

    textabstractThe risk factors for treatment related clinical fluctuations, relapses occurring after initial therapeutic induced stabilisation or improvement, were evaluated in a group of 172 patients with Guillain-Barre syndrome. Clinical, laboratory, and electrodiagnostic features

  15. Osteoarthritis subpopulations and implications for clinical trial design

    NARCIS (Netherlands)

    S.M. Bierma-Zeinstra (Sita); A.P. Verhagen (Arianne)

    2011-01-01

    textabstractTreatment guidelines for osteoarthritis have stressed the need for research on clinical predictors of response to different treatments. However, identifying such clinical predictors of response is less easy than it seems, and there is not a given classification of osteoarthritis

  16. Clinical Management of a Child with Prader-Willi Syndrome from Maternal Uniparental Disomy (UPD) Genetic Inheritance

    Science.gov (United States)

    Bellon-Harn, Monica L.

    2005-01-01

    Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated…

  17. Syndrome of rapid onset end stage renal disease in incident Mayo Clinic chronic hemodialysis patient

    Directory of Open Access Journals (Sweden)

    M. A. C. Onuigbo

    2014-01-01

    Full Text Available Despite decades of research, a full understanding of chronic kidney disease (CKD-end stage renal disease (ESRD progression remains elusive. The common consensus is a predictable, linear, progressive and time-dependent decline of CKD to ESRD. Acute kidney injury (AKI on CKD is usually assumed to be transient, with recovery as the expected outcome. AKI-ESRD association in current nephrology literature is blamed on the so-called "residual confounding." We had previously described a relationship between AKI events and rapid onset yet irreversible ESRD happening in a continuum in a high-risk CKD cohort. However, the contribution of the syndrome of rapid onset-ESRD (SORO-ESRD to incident United States ESRD population remained conjectural. In this retrospective analysis, we analyzed serum creatinine trajectories of the last 100 consecutive ESRD patients in 4 Mayo Clinic chronic hemodialysis units to determine the incidence of SORO-ESRD. Excluding 9 patients, 31 (34% patients, including two renal transplant recipients, had SORO-ESRD: 18 males and 13 females age 72 (range 50-92 years. Precipitating AKI followed pneumonia (8, acutely decompensated heart failure (7, pyelonephritis (4, post-operative (5, sepsis (3, contrast-induced nephropathy (2, and others (2. Time to dialysis was shortest following surgical procedures. Concurrent renin angiotensin aldosterone system blockade was higher with SORO-ESRD - 23% versus 5%, P = 0.0113. In conclusion, SORO-ESRD is not uncommon among the incident general US ESRD population. The implications for ESRD care planning, AV-fistula-first programs, general CKD care and any associations with renal ageing/senescence warrant further study.

  18. Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.

    Science.gov (United States)

    Cortés-Vicente, Elena; Pradas, Jesús; Marín-Lahoz, Juan; De Luna, Noemi; Clarimón, Jordi; Turon-Sans, Janina; Gelpí, Ellen; Díaz-Manera, Jordi; Illa, Isabel; Rojas-Garcia, Ricard

    2017-08-01

    To describe the frequency and clinical characteristics of patients referred to a tertiary neuromuscular clinic as having amyotrophic lateral sclerosis (ALS) but who were re-diagnosed as having an ALS mimic syndrome, and to identify the reasons that led to the revision of the diagnosis. We reviewed the final diagnosis of all patients prospectively registered in the Sant Pau-MND register from 1 January 2004 to 31 December 2015. A detailed clinical evaluation and a clinically-guided electrophysiological study were performed at first evaluation. Twenty of 314 (6.4%) patients included were re-diagnosed as having a condition other than ALS, in 18 cases already at first evaluation. An alternative specific diagnosis was identified in 17 of those 20, consisting of a wide range of conditions. The main finding leading to an alternative diagnosis was the result of the electrophysiological study. Fifty per cent did not fulfil the El Escorial revised criteria (EECr) for ALS. The most common clinical phenotype at onset in patients with ALS mimic syndromes was progressive muscular atrophy (PMA). Misdiagnosing ALS is still a common problem. Early identification of ALS mimic syndromes is possible based on atypical clinical features and a clinically-guided electrophysiological study. Patients should be attended in specialised centres. The application of EECr helps to identify ALS misdiagnoses.

  19. Clinical characteristics of mirror syndrome: a comparison of 10 cases of mirror syndrome with non-mirror syndrome fetal hydrops cases.

    Science.gov (United States)

    Hirata, Go; Aoki, Shigeru; Sakamaki, Kentaro; Takahashi, Tsuneo; Hirahara, Fumiki; Ishikawa, Hiroshi

    2016-01-01

    To investigate clinical features of mirror syndrome. We retrospectively reviewed 71 cases of fetal hydrops with or without mirror syndrome, and compared with respect to maternal age, the body mass index, the primipara rate, the gestational age at delivery, the timing of fetal hydrops onset, the severity of fetal edema, placental swelling, the laboratory data and the fetal mortality. The data are expressed as the medians. Mirror syndrome developed in 29% (10/35) of the cases with fetal hydrops. In mirror group, the onset time of fetal hydrops was significantly earlier (29 weeks versus 31 weeks, p = 0.011), and the severity of fetal hydrops (fetal edema/biparietal diameter) was significantly higher than non-mirror group (0.23 versus 0.16, p < 0.001). There was significantly higher serum human chorionic gonadotropin (hCG) (453,000 IU/L versus 80,000 IU/L, p < 0.001) and lower hemoglobin (8.9 g/dL versus 10.1 g/dL, p =0.002), hypoalbuminemia (2.3 mg/dL versus 2.7 mg/dL, p = 0.007), hyperuricemia (6.4 mg/dL versus 5.0 mg/dL, p = 0.043) in mirror group. Mirror syndrome is occurred frequently in early and severe fetal hydrops and cause hemodilution and elevation of serum hCG.

  20. Remote clinical prognosis in patients with coronary X syndrome

    Directory of Open Access Journals (Sweden)

    Sebov D.M.

    2015-09-01

    Full Text Available The article analyzes data of 3234 coronary angiographies with established coronary X syndrome (CXS in 217 cases, herewith expressed tortuosity of coronary arteries (ETCA was found out in 148 (more than 2/3 of cases. A 5-years’ analysis of cardio-vascular events (CVE in patients with CXS in comparison with the group of IHD patients and initial atherosclerosis of coronary arteries was made. Absence of reliable difference of developing severe cardio-vascular events (SCVE bet¬ween patients with initial atherosclerosis and CXS was proved. Risk of CVE development was significantey higher in patients with ETCA, OR=4,93; 95% (0,62; 3929. Patients with CXS had higher risk of severe arrhythmias development as compared with IHD patients with initial atherosclerosis: OR=2,36 (1,01; 5,56. There was no reliable difference between lethality of any causes and number of coronary interventions in all groups.

  1. CLINICAL AND RADIOGRAPHIC FEATURES OF PARRY-ROMBERG SYNDROME

    Directory of Open Access Journals (Sweden)

    Mithula NAIR

    2017-10-01

    Full Text Available Parry-Romberg syndrome or progressive hemifacial atrophy is a craniofacial disorder characterized by slow and progressive atrophy, generally unilateral, of facial tissues including muscles, bones and skin. The coup de sabre is a clear line of demarcation seen between the normal and abnormal structures. The severity of the facial deformity is dependent on the age of onset of the disease. Cosmetic management is the only available treatment and has to be delayed until facial growth is completed. The present case report deals with a 43-year-old woman with progressive hemifacial atrophy which started from the age of 10 months. Despite almost complete involvement of the right paramedian area and the early age of onset, she had neither eye changes nor any dental malformations.

  2. Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

    Directory of Open Access Journals (Sweden)

    MARIE SUELY K.NAGAHASHI

    1999-01-01

    Full Text Available We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.

  3. Fragile X syndrome: A review of clinical management

    Science.gov (United States)

    Lozano, Reymundo; Azarang, Atoosa; Wilaisakditipakorn, Tanaporn; Hagerman, Randi J

    2016-01-01

    Summary The fragile X mental retardation 1 gene, which codes for the fragile X mental retardation 1 protein, usually has 5 to 40 CGG repeats in the 5′ untranslated promoter. The full mutation is the almost always the cause of fragile X syndrome (FXS). The prevalence of FXS is about 1 in 4,000 to 1 in 7,000 in the general population although the prevalence varies in different regions of the world. FXS is the most common inherited cause of intellectual disability and autism. The understanding of the neurobiology of FXS has led to many targeted treatments, but none have cured this disorder. The treatment of the medical problems and associated behaviors remain the most useful intervention for children with FXS. In this review, we focus on the non-pharmacological and pharmacological management of medical and behavioral problems associated with FXS as well as current recommendations for follow-up and surveillance. PMID:27672537

  4. Clinical presentation of Churg-Strauss syndrome in children: A 12-year-old-boy with ANCA-negative Churg-Strauss syndrome.

    Science.gov (United States)

    Razenberg, Femke G E M; Heynens, Jan W C M; Jan de Vries, Geeuwke; Duijts, Liesbeth; de Jongste, Johan C; de Blic, Jacques; Rosias, Philippe P R

    2012-01-01

    Churg-Strauss syndrome is an uncommon multisystem disorder characterized by asthma, eosinophilia and vasculitis. We report on a 12-year-old boy with asthma and deterioration of his general condition, who was eventually diagnosed with an ANCA-negative Churg-Strauss syndrome. The propositus included, 50 cases of childhood Churg-Strauss syndrome have been reported. The patient characteristics and clinical characteristics of these children are summarized. The respiratory tract is most frequently involved with pulmonary infiltrates, asthma and sinusitis. Early recognition of childhood Churg-Strauss syndrome is important as delayed diagnosis can lead to severe organ involvement, and possible fatal outcome.

  5. Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.

    Science.gov (United States)

    Gripp, Karen W; Ennis, Sara; Napoli, Joseph

    2013-05-01

    Exome analysis has had a dramatic impact on genetic research. We present the application of such newly generated information to patient care. The patient was a female, born with normal growth parameters to nonconsanguineous parents after an uneventful pregnancy. She had bilateral cleft lip/palate and ankyloblepharon. Sparse hair, dysplastic nails and hypohidrosis were subsequently noted. With exception of speech related issues, her development was normal. A clinical diagnosis of ankyloblepharon-ectodermal defects-cleft lip/palate or Hay-Wells syndrome resulted in TP63 sequence analysis. TP63 sequence and deletion/duplication analysis of all coding exons had a normal result, as did chromosome and SNP array analysis. Diagnostic exome analysis revealed a heterozygous nonsense mutation in KRT83 categorized as deleterious and associated with monilethrix. In addition, a homozygous missense variant of unknown clinical significance was reported in RIPK4. Using research based exome analysis, RIPK4 had just a few months prior been identified as pathogenic for Bartsocas-Papas syndrome. While the clinical diagnostic report implied the KRT83 mutation as a more likely cause for the patient's phenotype, clinical correlation, literature review and use of computerized mutation analysis programs allowed us to identify the homozygous RIPK4 (c.488G > A; p.Gly163Asp) mutation as the underlying pathogenic change. Consequently, we expand the phenotype of Bartsocas-Papas syndrome to an attenuated presentation resembling Hay-Wells syndrome, lacking lethality and pterygia. In contrast to the autosomal dominant Hay-Wells syndrome, Bartsocas-Papas syndrome is autosomal recessive, implying a 25% recurrence risk. Copyright © 2013 Wiley Periodicals, Inc.

  6. Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.

    Science.gov (United States)

    Kline, Antonie D; Krantz, Ian D; Deardorff, Matthew A; Shirahige, Katsuhiko; Dorsett, Dale; Gerton, Jennifer L; Wu, Meng; Mehta, Devanshi; Mills, Jason A; Carrico, Cheri S; Noon, Sarah; Herrera, Pamela S; Horsfield, Julia A; Bettale, Chiara; Morgan, Jeremy; Huisman, Sylvia A; Moss, Jo; McCleery, Joseph; Grados, Marco; Hansen, Blake D; Srivastava, Siddharth; Taylor-Snell, Emily; Kerr, Lynne M; Katz, Olivia; Calof, Anne L; Musio, Antonio; Egense, Alena; Haaland, Richard E

    2017-05-01

    Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are multiple clinical issues facing individuals with all forms of CdLS, particularly in the neurodevelopmental system, but also gastrointestinal, cardiac, and musculoskeletal. Aspects of developmental and cell biology have found common endpoints in the biology of the cohesin complex, with improved understanding of the mechanisms, easier diagnostic tests, and the possibility of potential therapeutics, all major clinical implications for the individual with CdLS. The following abstracts are the presentations from the 7th Cornelia de Lange Syndrome Scientific and Educational Symposium, June 22-23, 2016, in Orlando, FL, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting. In addition to the scientific and clinical discussions, there were talks related to practical aspects of behavior including autism, transitions, communication, access to medical care, and databases. At the end of the symposium, a panel was held, which included several parents, affected individuals and genetic counselors, and discussed the greatest challenges in life and how this information can assist in guiding future research. The Research Committee of the CdLS Foundation organizes this meeting, reviews, and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board and publications. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD. © 2017 Wiley Periodicals, Inc.

  7. Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016

    Science.gov (United States)

    Kline, Antonie D.; Krantz, Ian D.; Deardorff, Matthew A.; Shirahige, Katsuhiko; Dorsett, Dale; Gerton, Jennifer L.; Wu, Meng; Mehta, Devanshi; Mills, Jason A.; Carrico, Cheri S.; Noon, Sarah; Herrera, Pamela S.; Horsfield, Julia A.; Bettale, Chiara; Morgan, Jeremy; Huisman, Sylvia A.; Moss, Jo; McCleery, Joseph; Grados, Marco; Hansen, Blake D.; Srivastava, Siddharth; Taylor-Snell, Emily; Kerr, Lynne M.; Katz, Olivia; Calof, Anne L.; Musio, Antonio; Egense, Alena; Haaland, Richard E.

    2017-01-01

    Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are multiple clinical issues facing individuals with all forms of CdLS, particularly in the neurodevelopmental system, but also gastrointestinal, cardiac, and musculoskeletal. Aspects of developmental and cell biology have found common endpoints in the biology of the cohesin complex, with improved understanding of the mechanisms, easier diagnostic tests, and the possibility of potential therapeutics, all major clinical implications for the individual with CdLS. The following abstracts are the presentations from the 7th Cornelia de Lange Syndrome Scientific and Educational Symposium, June 22–23, 2016, in Orlando, FL, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting. In addition to the scientific and clinical discussions, there were talks related to practical aspects of behavior including autism, transitions, communication, access to medical care, and databases. At the end of the symposium, a panel was held, which included several parents, affected individuals and genetic counselors, and discussed the greatest challenges in life and how this information can assist in guiding future research. The Research Committee of the CdLS Foundation organizes this meeting, reviews, and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board and publications. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD. PMID:28190301

  8. Cerebellar Ataxia with Bilateral Vestibulopathy: Description of a Syndrome and Its Characteristic Clinical Sign

    Science.gov (United States)

    Migliaccio, Americo A.; Halmagyi, G. Michael; McGarvie, Leigh A.; Cremer, Phillip D.

    2004-01-01

    We report four patients with the syndrome of cerebellar ataxia with bilateral vestibulopathy (CABV) and, using search coil oculography, we validate its characteristic clinical sign, namely impairment of the visually enhanced vestibulo-ocular reflex (VVOR) or doll's head reflex. In our four patients, CABV began in the sixth decade of life; they are…

  9. Dystonia in complex regional pain syndrome : clinical, pathophysiological and therapeutic aspects

    NARCIS (Netherlands)

    Rijn, Monica Adriana van

    2010-01-01

    The clinical characteristics of Complex Regional Pain Syndrome (CRPS) are defined by pain and various combinations of sensory disturbances, autonomic features, and sudomotor and trophic changes. Furthermore, patients with CRPS may suffer from movement disorders, of which dystonia is the most

  10. Clinical outcome after unilateral oophorectomy in patients with polycystic ovary syndrome

    NARCIS (Netherlands)

    Kaaijk, E. M.; Hamerlynck, J. V.; Beek, J. F.; van der Veen, F.

    1999-01-01

    The objective of this study is to report retrospectively on the clinical outcome of unilateral oophorectomy in 14 women with polycystic ovary syndrome who had undergone this treatment 14-18 years ago in our hospital for clomiphene citrate-resistant anovulation and long standing infertility or for

  11. "Klebsiella Pneumonia" Liver Abscess Syndrome: Case Presentation to a College Student Health Clinic

    Science.gov (United States)

    Woll, Christopher; Spotts, P. Hunter

    2016-01-01

    The authors describe a case of "Klebsiella pneumoniae" liver abscess (KPLA) in a student presenting to a university student health center. The authors also provide a review of KPLA and invasive "Klebsiella pneumoniae" liver abscess syndrome (IKPLAS), including epidemiology, common clinical manifestations, standard diagnostic…

  12. Consistency between Research and Clinical Diagnoses of Autism among Boys and Girls with Fragile X Syndrome

    Science.gov (United States)

    Klusek, J.; Martin, G. E.; Losh, M.

    2014-01-01

    Background: Prior research suggests that 60-74% of males and 16-45% of females with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD) in research settings. However, relatively little is known about the rates of clinical diagnoses in FXS and whether such diagnoses are consistent with those performed in a research setting…

  13. Treatment of Mucosa-associated Lymphoid Tissue Lymphoma in Sjogren's Syndrome : A Retrospective Clinical Study

    NARCIS (Netherlands)

    Pollard, Rodney P. E.; Pijpe, Justin; Bootsma, Hendrika; Spijkervet, Fred K. L.; Kluin, Philip M.; Roodenburg, Jan L. N.; Kallenberg, Cees G. M.; Vissink, Arjan; van Imhoff, Gustaaf W.

    2011-01-01

    Objective. To retrospectively analyze the clinical course of patients with mucosa-associated lymphoid tissue (MALT)-type lymphoma of the parotid gland and associated Sjogren's syndrome (SS). Methods. All consecutive patients with SS and MALT lymphoma (MALT-SS) diagnosed in the University Medical

  14. Patients Reporting Ritual Abuse in Childhood: A Clinical Syndrome. Report of 37 Cases.

    Science.gov (United States)

    Young, Walter C.; And Others

    1991-01-01

    Thirty-seven adult dissociative disorder patients who reported ritual abuse in childhood by satanic cults are described. A clinical syndrome is presented that includes dissociative states with satanic overtones, posttraumatic stress disorder, survivor guilt, unusual fears, and substance abuse. Questions concerning reliability, credibility, and…

  15. Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

    DEFF Research Database (Denmark)

    Lundin, Catarina; Forestier, Erik; Klarskov Andersen, Mette

    2014-01-01

    BACKGROUND: Children with Down syndrome (DS) have an increased risk for acute lymphoblastic leukemia (ALL). Although previous studies have shown that DS-ALL differs clinically and genetically from non-DS-ALL, much remains to be elucidated as regards genetic and prognostic factors in DS-ALL. METHODS...

  16. Gut fermentation syndrome | Fayemiwo | African Journal of Clinical ...

    African Journals Online (AJOL)

    African Journal of Clinical and Experimental Microbiology. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 15, No 1 (2014) >. Log in or Register to get access to full text downloads.

  17. Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

    Science.gov (United States)

    Kimberling, William J; Hildebrand, Michael S; Shearer, A Eliot; Jensen, Maren L; Halder, Jennifer A; Trzupek, Karmen; Cohn, Edward S; Weleber, Richard G; Stone, Edwin M; Smith, Richard J H

    2010-08-01

    Usher syndrome is a major cause of genetic deafness and blindness. The hearing loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in early childhood to the middle teenage years. Its frequency may be underestimated. Newly developed molecular technologies can detect the underlying gene mutation of this disorder early in life providing estimation of its prevalence in at risk pediatric populations and laying a foundation for its incorporation as an adjunct to newborn hearing screening programs. A total of 133 children from two deaf and hard of hearing pediatric populations were genotyped first for GJB2/6 and, if negative, then for Usher syndrome. Children were scored as positive if the test revealed > or =1 pathogenic mutations in any Usher gene. Fifteen children carried pathogenic mutations in one of the Usher genes; the number of deaf and hard of hearing children carrying Usher syndrome mutations was 15/133 (11.3%). The population prevalence was estimated to be 1/6000. Usher syndrome is more prevalent than has been reported before the genome project era. Early diagnosis of Usher syndrome has important positive implications for childhood safety, educational planning, genetic counseling, and treatment. The results demonstrate that DNA testing for Usher syndrome is feasible and may be a useful addition to newborn hearing screening programs.

  18. The diagnostic efficacy of clinical findings and electrophysiological studies in carpal tunnel syndrome

    OpenAIRE

    Buyukkoyuncu Pekel, Nilufer; Nar Senol, Pelin; Yildiz, Demet; Kilic, Ahmet Kasim; Kamaci Sener, Deniz; Seferoglu, Meral; Gunes, Aygul

    2017-01-01

    Objective. The aim of the study was to examine the relation between clinical findings, neurological examination and electrophysiological studies in diagnosing carpal tunnel syndrome (CTS) and share our institutional experience in patients with CTS. Methods. Patients presenting with complaints of pain, paresthesia, and weakness in hands who diagnosed CTS between 2014 and 2015 were examined retrospectively. Demographic characteristics, clinical and neurological examination findings and electrod...

  19. Chromosomal Aberrations Associated with Clonal Evolution and Leukemic Transformation in Fanconi Anemia: Clinical and Biological Implications

    Directory of Open Access Journals (Sweden)

    Stefan Meyer

    2012-01-01

    Full Text Available Fanconi anaemia (FA is an inherited disease with congenital and developmental abnormalities, bone marrow failure, and extreme risk of leukemic transformation. Bone marrow surveillance is an important part of the clinical management of FA and often reveals cytogenetic aberrations. Here, we review bone marrow findings in FA and discuss the clinical and biological implications of chromosomal aberrations associated with leukemic transformation.

  20. Clinical implication of smoking among patients with schizophrenia at ...

    African Journals Online (AJOL)

    Objective: The aim of this study was to determine if cigarette smoking in schizophrenia is associated with increased disability ... Cite as: Aguocha C, Uwakwe R, Olose E, Amadi K, Onyeama G, Duru C. Clinical ..... addiction and schizophrenia.

  1. Complete morphometric analysis of jugular foramen and its clinical implications

    Directory of Open Access Journals (Sweden)

    Sushant Swaroop Das

    2016-01-01

    Conclusion: This study gives knowledge about the various parameters, anatomical variations of jugular foramen in both sexes of an adult Indian population, and its clinical impact on the surgeries of this region.

  2. Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

    Science.gov (United States)

    Busa, Tiffany; Jeraiby, Mohammed; Clémenson, Alix; Manouvrier, Sylvie; Granados, Viviana; Philip, Nicole; Touraine, Renaud

    2017-11-01

    CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations. © 2017 Wiley Periodicals, Inc.

  3. Implications of Clinical Trial Design on Sample Size Requirements

    OpenAIRE

    Leon, Andrew C.

    2008-01-01

    The primary goal in designing a randomized controlled clinical trial (RCT) is to minimize bias in the estimate of treatment effect. Randomized group assignment, double-blinded assessments, and control or comparison groups reduce the risk of bias. The design must also provide sufficient statistical power to detect a clinically meaningful treatment effect and maintain a nominal level of type I error. An attempt to integrate neurocognitive science into an RCT poses additional challenges. Two par...

  4. Myasthenia gravis and pregnancy: clinical implications and neonatal outcome

    Directory of Open Access Journals (Sweden)

    Estanol Bruno

    2004-11-01

    Full Text Available Abstract Background The myasthenia gravis is twice as common in women as in men and frequently affects young women in the second and third decades of life, overlapping with the childbearing years. Generally, during pregnancy in one third of patients the disease exacerbates, whereas in two thirds it remains clinically unchanged. Complete remission can occur in some patients. Methods To describe the clinical course, delivery and neonatal outcome of 18 pregnant women with the diagnosis of myasthenia gravis. Retrospective chart review of pregnant patients with myasthenia gravis, followed at the National Institute of Perinatology in Mexico City over an 8-year period. Data was abstracted from the medical records on the clinical course during pregnancy, delivery and neonatal outcome. Results From January 1, 1996 to December 31, 2003 18 patients with myasthenia gravis were identified and included in the study. The mean ± SD maternal age was 27.4 ± 4.0 years. During pregnancy 2 women (11% had an improvement in the clinical symptoms of myasthenia gravis, 7 women (39% had clinical worsening of the condition of 9 other patients (50% remained clinically unchanged. Nine patients delivered vaginally, 8 delivered by cesarean section and 1 pregnancy ended in fetal loss. Seventeen infants were born at mean ± SD gestational age of 37.5 ± 3.0 weeks and a mean birth weight of 2710 ± 73 g. Only one infant presented with transient neonatal myasthenia gravis. No congenital anomalies were identified in any of the newborns. Conclusions The clinical course of myasthenia gravis during pregnancy is variable, with a significant proportion of patients experiencing worsening of the clinical symptoms. However, neonatal transient myasthenia was uncommon in our patient population.

  5. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients.

    LENUS (Irish Health Repository)

    Bracken, Jennifer

    2012-02-01

    BACKGROUND: PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. OBJECTIVE: To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. MATERIALS AND METHODS: A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. RESULTS: Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin\\/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). CONCLUSION: Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome.

  6. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients

    Energy Technology Data Exchange (ETDEWEB)

    Bracken, Jennifer; Robinson, Ian; Snow, Aisling; Rea, David; Phelan, Ethna [Our Lady' s Children' s Hospital, Department of Radiology, Dublin (Ireland); Watson, Rosemarie; Irvine, Alan D. [Our Lady' s Children' s Hospital, Department of Dermatology, Dublin (Ireland)

    2011-09-15

    PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome. (orig.)

  7. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients

    International Nuclear Information System (INIS)

    Bracken, Jennifer; Robinson, Ian; Snow, Aisling; Rea, David; Phelan, Ethna; Watson, Rosemarie; Irvine, Alan D.

    2011-01-01

    PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome. (orig.)

  8. Burning mouth syndrome: Clinical description, pathophysiological approach, and a new therapeutic option.

    Science.gov (United States)

    Cárcamo Fonfría, A; Gómez-Vicente, L; Pedraza, M I; Cuadrado-Pérez, M L; Guerrero Peral, A L; Porta-Etessam, J

    2017-05-01

    Burning mouth syndrome is defined as scorching sensation in the mouth in the absence of any local lesions or systemic disease that would explain that complaint. The condition responds poorly to commonly used treatments and it may become very disabling. We prospectively analysed the clinical and demographic characteristics and response to treatment in 6 cases of burning mouth syndrome, diagnosed at 2 tertiary hospital headache units. Six female patients between the ages of 34 and 82 years reported symptoms compatible with burning mouth syndrome. In 5 of them, burning worsened at the end of the day; 4 reported symptom relief with tongue movements. Neurological examinations and laboratory findings were normal in all patients and their dental examinations revealed no buccal lesions. Each patient had previously received conventional treatments without amelioration. Pramipexol was initiated in doses between 0.36mg and 1.05mg per day, resulting in clear improvement of symptoms in all cases, a situation which continues after a 4-year follow up period. Burning mouth syndrome is a condition of unknown aetiology that shares certain clinical patterns and treatment responses with restless leg syndrome. Dopamine agonists should be regarded as first line treatment for this entity. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. Pain perception in people with Down syndrome: a synthesis of clinical and experimental research

    Science.gov (United States)

    McGuire, Brian E.; Defrin, Ruth

    2015-01-01

    People with an intellectual disability experience both acute and chronic pain with at least the same frequency as the general population. However, considerably less is known about the pain perception of people with Down syndrome. In this review paper, we evaluated the available clinical and experimental evidence. Some experimental studies of acute pain have indicated that pain threshold was higher than normal but only when using a reaction time method to measure pain sensitivity. However, when reaction time is not part of the calculation of the pain threshold, pain sensitivity in people with Down syndrome is in fact lower than normal (more sensitive to pain). Clinical studies of chronic pain have shown that people with an intellectual disability experience chronic pain and within that population, people with Down syndrome also experience chronic pain, but the precise prevalence of chronic pain in Down syndrome has yet to be established. Taken together, the literature suggests that people with Down syndrome experience pain, both acute and chronic, with at least the same frequency as the rest of the population. Furthermore, the evidence suggests that although acute pain expression appears to be delayed, once pain is registered, there appears to be a magnified pain response. We conclude by proposing an agenda for future research in this area. PMID:26283936

  10. Clinical and Biochemical Characteristics of Polycystic Ovarian Syndrome among Women in Bangladesh.

    Science.gov (United States)

    Islam, S; Pathan, F; Ahmed, T

    2015-04-01

    Clinical and Biochemical characteristics age, central obesity, Glucose intolerance, lipid abnormality, thyroid function, prolactin level, clinical signs & symptoms and ultrasonographic ovarian feature of 70 women were studied and prevalence of hyper-prolactinemia, hypothyroidism and Metabolic syndrome were calculated in the Endocrine OPD of BIRDEM during November 2010 to May 2011.Age of the PCOS population was 23.02±7.04 year, central obesity in 81.4%, abnormal glucose tolerance in 47.1%, dyslipidemia in 45.7%, hypertension in 24.3%, hirsutism in 88.6%, acanthosis nigricans in 50%, polycystic ovaries by ultrasound (87%) cases. One third of the PCOS cases i.e.; 33% were without hyperprolactinemia or hypothyroidism or Metabolic Syndrome. And the rest 47 cases had one, two or all the 3 with them. The distribution was PCOS with hyperprolactinemia 18.6%, PCOS with hypothyroidism 11.4%, PCOS with Metabolic Syndrome 15.3%, PCOS with hyperprolactinemia with MS 8.6%, PCOS with hypothyrodism with MS 5.6%, PCOS with hypothyrodism with hyperprolactinemia 4.3% and rest 4.3% had all the 4 in combination. Blood glucose levels during OGTT and TSH levels of the group without Hypothyrid, hyperprolactinoma or Metabolic Syndrome were significantly lower (p≤0.008). Significant proportion of Bangladeshi women with PCOS has hypothyroidsm with or without high prolactin and also have higher incidence of metabolic syndrome. So, all PCOS patients should also be screened for hypothyroidsm and hyperprolactinemia.

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

    Science.gov (United States)

    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.

  12. Metabolic fuel and clinical implications for female reproduction.

    Science.gov (United States)

    Mircea, Carmen N; Lujan, Marla E; Pierson, Roger A

    2007-11-01

    Reproduction is a physiologically costly process that consumes significant amounts of energy. The physiological mechanisms controlling energy balance are closely linked to fertility. This close relationship ensures that pregnancy and lactation occur only in favourable conditions with respect to energy. The primary metabolic cue that modulates reproduction is the availability of oxidizable fuel. An organism's metabolic status is transmitted to the brain through metabolic fuel detectors. There are many of these detectors at both the peripheral (e.g., leptin, insulin, ghrelin) and central (e.g., neuropeptide Y, melanocortin, orexins) levels. When oxidizable fuel is scarce, the detectors function to inhibit the release of gonadotropin-releasing hormone and luteinizing hormone, thereby altering steroidogenesis, reproductive cyclicity, and sexual behaviour. Infertility can also result when resources are abundant but food intake fails to compensate for increased energy demands. Examples of these conditions in women include anorexia nervosa and exercise-induced amenorrhea. Infertility associated with obesity appears to be less related to an effect of oxidizable fuel on the hypothalamic-pituitary-ovarian axis. Impaired insulin sensitivity may play a role in the etiology of these conditions, but their specific etiology remains unresolved. Research into the metabolic regulation of reproductive function has implications for elucidating mechanisms of impaired pubertal development, nutritional amenorrhea, and obesity-related infertility. A better understanding of these etiologies has far-reaching implications for the prevention and management of reproductive dysfunction and its associated comorbidities.

  13. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

    Science.gov (United States)

    Vandeweyer, Geert; Van der Aa, Nathalie; Reyniers, Edwin; Kooy, R Frank

    2012-06-08

    Williams-Beuren syndrome is a rare contiguous gene syndrome, characterized by intellectual disability, facial dysmorphisms, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient infantile hypercalcemia. Genes lying telomeric to RFC2, including CLIP2, GTF2I and GTF2IRD1, are currently thought to be the most likely major contributors to the typical Williams syndrome cognitive profile, characterized by a better-than-expected auditory rote-memory ability, a relative sparing of language capabilities, and a severe visual-spatial constructive impairment. Atypical deletions in the region have helped to establish genotype-phenotype correlations. So far, however, hardly any deletions affecting only a single gene in the disease region have been described. We present here two healthy siblings with a pure, hemizygous deletion of CLIP2. A putative role in the cognitive and behavioral abnormalities seen in Williams-Beuren patients has been suggested for this gene on the basis of observations in a knock-out mouse model. The presented siblings did not show any of the clinical features associated with the syndrome. Cognitive testing showed an average IQ for both and no indication of the Williams syndrome cognitive profile. This shows that CLIP2 haploinsufficiency by itself does not lead to the physical or cognitive characteristics of the Williams-Beuren syndrome, nor does it lead to the Williams syndrome cognitive profile. Although contribution of CLIP2 to the phenotype cannot be excluded when it is deleted in combination with other genes, our results support the hypothesis that GTF2IRD1 and GTF2I are the main genes causing the cognitive defects associated with Williams-Beuren syndrome. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  14. Late whiplash syndrome: a clinical science approach to evidence-based diagnosis and management.

    Science.gov (United States)

    Poorbaugh, Keith; Brismée, Jean-Michel; Phelps, Valerie; Sizer, Phillip S

    2008-01-01

    The purpose of this article is to narrow the gap that exists in the clinical application of scientific research and empiric evidence for the evaluation and management of late whiplash. Considering that 14% to 42% of patients are left with chronic symptoms following whiplash injury, it is unlikely that only minor self-limiting injuries result from the typical rear-end impact. As psychosocial issues play a role in the development of persistent whiplash symptoms, discerning the organic conditions from the biopsychosocial factors remains a challenge to clinicians. The term "whiplash" represents the multiple factors associated with the event, injury, and clinical syndrome that are the end-result of a sudden acceleration-deceleration trauma to the head and neck. However, contentions surround the nature of soft-tissue injuries that occur with most motor vehicle accidents and whether these injuries are significant enough to result in chronic pain and limitations. The stark contrast in litigation for whiplash that exists among industrialized nations and less developed countries suggests another factor that could influence one's interpretation of symptoms' chronicity associated with Late Whiplash Syndrome. There are no gold standard tests or imaging techniques that can objectify whiplash-associated disorders. A lack of supporting evidence and disparity in medico-legal issues have created distinct camps in the scientific interpretations and clinical management of late whiplash. It is likely that efforts in research and/or clinical practice will begin to explain the disparity between acute and chronic whiplash syndrome. Recent evidence suggests that Late Whiplash Syndrome should be considered from a different context. The purpose of this article is to expound on several of the significant findings in the literature and offer clinical applications for evaluation and management of Late Whiplash Syndrome.

  15. Comparative Clinical Profile of Postural Orthostatic Tachycardia Patients With and Without Joint Hypermobility Syndrome

    Directory of Open Access Journals (Sweden)

    Blair P Grubb

    2010-04-01

    Full Text Available Background: Autonomic dysfunction is common in patients with the joint hypermobility syndrome (JHS. However, there is a paucity of reported data on clinical features of Postural orthostatic tachycardia syndrome (POTS in patients suffering from JHS.Methods: This retrospective study was approved by our local Institutional Review Board (IRB. Over a period of 10 years, 26 patients of POTS were identified for inclusion in this study. All these patients had features of Joint Hypermobility Syndrome (by Brighton criterion. A comparison group of 39 patients with other forms of POTS were also followed in the autonomic clinic during the same time. We present a descriptive report on the comparative clinical profile of the clinical features of Postural Orthostatic Tachycardia patients with and without Joint Hypermobility syndrome. The data is presented as a mean±SD and percentages wherever applicable.Results: Out of 65 patients, 26 patients (all females, 20 Caucasians had POTS and JHS. The mean age at presentation of POTS was 24±13 (range 10-53 years vs 41±12 (range 19-65 years, P=0.0001, Migraine was a common co morbidity 73 vs 29% p=0,001. In two patients POTS was precipitated by pregnancy, and in three by surgery, urinary tract infection and a viral syndrome respectively. The common clinical features were fatigue (58%, orthostatic palpitations (54%, presyncope (58%, and syncope (62%.Conclusion: Patients with POTS and JHS appear to become symptomatic at an earlier age compared to POTS patients without JHS. In addition patients with JHS had a greater incidence of migraine and syncope than their non JHS counterparts.

  16. [Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

    Science.gov (United States)

    Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He

    2017-02-10

    To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

  17. The clinical and molecular spectrum of androgen insensitivity syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Hiort, O.; Sinnecker, G.H.G.; Holterhus, P.M.; Nitsche, E.M.; Kruse, K. [Medical Univ. of Luebeck (Germany)

    1996-05-03

    Androgen insensitivity syndromes (AIS) are due to end-organ resistance to androgenic steroids in males leading to defective virilization of the external genitalia. The phenotype encompasses a wide array of genital ambiguity and may range from completely female to undervirilized but unequivocally male with infertility. This disorder is caused by mutations of the androgen receptor and is an X-linked recessive trait. We have studied 47 patients with AIS and have characterized the underlying molecular abnormality in the androgen receptor gene. Twenty patients had complete AIS and twenty-seven had partial AIS. Of the latter, 11 were of predominantly female phenotypic appearance and gender was assigned accordingly, while 16 were raised as males. Within the group of complete AIS, two patients had gross deletions within the gene, one had a small deletion, and one had an insertion. In the other patients with complete AIS, as well as all individuals with partial AIS, single nucleotide substitutions within the coding region were detected, each leading to an amino acid alteration. Seven codons were involved in more than one mutation in different cases. In addition, in one patient with spinal and bulbar muscular atrophy, an elongation of a glutamine-repeat was characterized. We conclude that mutations in the androgen receptor gene may be present throughout the whole coding region. However, our study provides evidence that several mutational hot spots exist. 18 refs., 2 figs.

  18. Clinical application ultrafast MRI to the sleep apnea syndrome, 1

    International Nuclear Information System (INIS)

    Suto, Yuji; Nakamura, Kiyoshi; Kato, Terumi

    1992-01-01

    To evaluate the site of obstruction within upper airway, we observed the Turbo-fast low angle shot (FLASH) imaging, in 10 patients with sleep apnea syndrome (SAS) during wakefulness and sleep. After intravenous injection of Gd-DTPA (0.1 mmol/kg), sequential images of pharyngeal portion were obtained in midline sagittal section. An imaging protocol was 1.13s per image with a 1s delay between images, for a total of 30s. Then sequential images were displayed in a cine on C. R. T.. In eight patients, upper airway obstructions were present during sleep, while narrowings were present in four cases during awake. The sites of obstruction were located at the velopharynx exclusively in three cases, velopharynx plus glosspharynx in three cases, velopharynx plus glosspharynx in one case. Velopharynx plus hypopharynx in one case, respectively. It was concluded that ultrafast MRI had an important role in evaluating the sites of obstruction within upper airway in patients with SAS. (author)

  19. [Prune Belly syndrome: epidemiologic, clinic and therapeutic aspects].

    Science.gov (United States)

    Diao, B; Diallo, Y; Fall, P A; Ngom, G; Fall, B; Ndoye, A K; Fall, I; Ba, M; Ndoye, M; Diagne, B A

    2008-07-01

    Prune Belly syndrome (PBS) is a rare complex malformation with male predominance. His pathogeny is not yet completely elucidated. The goal of this work is to analyze the epidemiological, anatomoclinical and treatment aspects of a retrospective trial in Aristide-Le-Dantec Hospital. We carried out a retrospective study about 22 cases collected in the departments of urology-andrology and pediatric surgery in Aristide-Le-Dantec Hospital between April 1995 and November 2004. The mean age of the patients was 15 months with extremes of one day and 10 years. The somatic examination revealed 20 cases of complete abdominal muscle aplasia, one right partial form and the last case had a left partial form. Nineteen patients were managed with conservative treatment and three patients benefited a surgical act for urinary abnormalities. The Montfort intervention was performed in two patients respectively aged eight and 10 years. The orchidopexy, stage 1, by Fowler-Stephens technique was performed in 13 cases. Five cases of death and nine cases of testicular atrophy after orchidopexy occurred. The followings were satisfactory in the three operated patients for urinary abnormalities. The renal failure is the main cause of death. The management of the urinary tract abnormalities must be performed individually. The testis descending should be performed in newborn period to enhance the fertility chances. The abdominoplasty also should be done early for aesthetic reason and to improve pulmonary, defecation, and voiding functions.

  20. Clinical Practice Guideline of Acute Respiratory Distress Syndrome

    Directory of Open Access Journals (Sweden)

    Young-Jae Cho

    2016-05-01

    Full Text Available There is no well-stated practical guideline for mechanically ventilated patients with or without acute respiratory distress syndrome (ARDS. We generate strong (1 and weak (2 grade of recommendations based on high (A, moderate (B and low (C grade in the quality of evidence. In patients with ARDS, we recommend low tidal volume ventilation (1A and prone position if it is not contraindicated (1B to reduce their mortality. However, we did not support high-frequency oscillatory ventilation (1B and inhaled nitric oxide (1A as a standard treatment. We also suggest high positive end-expiratory pressure (2B, extracorporeal membrane oxygenation as a rescue therapy (2C, and neuromuscular blockage for 48 hours after starting mechanical ventilation (2B. The application of recruitment maneuver may reduce mortality (2B, however, the use of systemic steroids cannot reduce mortality (2B. In mechanically ventilated patients, we recommend light sedation (1B and low tidal volume even without ARDS (1B and suggest lung protective ventilation strategy during the operation to lower the incidence of lung complications including ARDS (2B. Early tracheostomy in mechanically ventilated patients can be performed only in limited patients (2A. In conclusion, of 12 recommendations, nine were in the management of ARDS, and three for mechanically ventilated patients.