Adili, Fatemeh; Larijani, Bagher; Haghighatpanah, Mohammadreza
This study was undertaken to consider the psychological aspect of diabetes with regard to improving clinical outcomes. The review was limited to literature reports on the causes, solutions, and treatments of some common psychological problems known to complicate diabetes management. A literature search was undertaken using Pub-Med, CINAHL, Proquest, Elsevier, Blackwell Synergy, Ovid, Ebsco, Rose net, and Google websites, including studies published in English journals between 1995 and 2006. Therefore about 88 articles were selected based on the inclusion criteria. In earlier studies, relatively little empirical research was found to substantiate the effect of psychological counseling in complicated diabetes. The greatest deficits were seen in areas of mental health, self-esteem parent impact, and family cohesion. There were some different factors, which influence the psychological aspect of diabetic patients, such as age, gender, place of living, familial and social support, motivation, energy, life satisfaction, and lifestyle. There are various types of solutions for coping with the psychological problems in diabetic clients. The most essential solution lies in educating the patients and healthcare providers on the subject. Before initiating each educational intervention, a thorough assessment would be crucial. Treatment plans may benefit from cognitive behavior therapy (CBT), behavior family therapy, improving family communication, problem-solving skills, and providing motivation for diabetic patients. Moreover, it seems that the close collaboration between diabetologists and psychologists would be fruitful.
SOLTANI, Danesh; GHAFFAR POUR, Majid; TAFAKHORI, Abbas; SARRAF, Payam; BITARAFAN, Sama
Epilepsy is a neurological disorder characterized by interruption of normal neuronal functions that is manifested by behavioral disorders, changing of awareness level, and presence of some sensory, autonomic and motor symptoms or signs. It is resulted from many different causes. Many antiepileptic drugs (AEDs) are considered to manage epileptic attacks. Some of them change metabolism and absorption of many nutrients. Therefore, epileptic patients may be in higher risk of nutrient deficiency and its unwelcome effects. In the present paper, we intend to review the relationship between nutrition and epilepsy in two aspects. In one aspect we discuss the nutritional status in epileptic patients, the causes of nutritional deficiencies and the way of compensation of the nutrient deficiencies. It will guide these patients to have a healthy life. In another aspect we explain the role of some nutrients and specific diets in management of epileptic attacks. It can help to better control of epileptic attacks in these patients. PMID:27375750
Soltani, Danesh; Ghaffar Pour, Majid; Tafakhori, Abbas; Sarraf, Payam; Bitarafan, Sama
Epilepsy is a neurological disorder characterized by interruption of normal neuronal functions that is manifested by behavioral disorders, changing of awareness level, and presence of some sensory, autonomic and motor symptoms or signs. It is resulted from many different causes. Many antiepileptic drugs (AEDs) are considered to manage epileptic attacks. Some of them change metabolism and absorption of many nutrients. Therefore, epileptic patients may be in higher risk of nutrient deficiency and its unwelcome effects. In the present paper, we intend to review the relationship between nutrition and epilepsy in two aspects. In one aspect we discuss the nutritional status in epileptic patients, the causes of nutritional deficiencies and the way of compensation of the nutrient deficiencies. It will guide these patients to have a healthy life. In another aspect we explain the role of some nutrients and specific diets in management of epileptic attacks. It can help to better control of epileptic attacks in these patients.
The continuous improvement of substitution and antiviral treatments available to date (at least in countries with greater economic and social development) allow better survival of patients with haemophilia, both as regards the duration and quality of life, to the point that the haemophilic arthropathy, that is the co-morbidity almost always present and extremely debilitating, come to be treated successfully using prosthetic joint replacement surgery. This has further highlighted other aspects of disease such as osteopenia or osteoporosis, which frequently occurs in these patients, and in recent years has aroused the interest of research.Rehabilitation plays a vital role in helping to tackle the different risk factors in young patients, in containing the consequences of the disease on the skeletal and muscle apparatus such as on the recovery after surgery and prosthetic.
Tedrus, Glória Maria Almeida Souza; Fonseca, Lineu Corrêa; Fagundes, Tatiane Mariani; da Silva, Gabriela Leopoldino
The objectives of this study were to assess religiosity aspects in patients with epilepsy (PWEs) and controls and to determine whether such aspects were related to the samples' clinical, sociodemographic, and QOL-31 data. The Duke Religion Index was administered to 159 adult PWEs and 50 controls. The relationships between the Duke Religion Index and the study variables of the two groups were compared. Intrinsic religiosity (IR) and nonorganizational religiosity (NOR) were higher in PWEs than in controls. Logistic regression showed that being female (p=0.022) and having mesial temporal lobe epilepsy with hippocampus sclerosis (MTLE-HS) (p=0.003) were predictors of high organizational religiosity (OR) and that high NOR was associated with MTLE-HS (p=0.026) and controlled seizures. Further, only MTLE-HS (p=0.002) was predictive of high IR. The Duke Religion Index and QOLIE-31 scores were not related. Different forms of interictal religiosity are related to clinical aspects of epilepsy. Copyright © 2015 Elsevier Inc. All rights reserved.
Severe Lower Limb Ischemia by Massive Arterial Thrombosis Revealing an Acute Myeloid Leukemia Needing for Leg Amputation: Clinical and Emotional Aspects Related to the Communication with the Patient and His Family
Taormina, Calogero; Mosa, Clara; Di Marco, Floriana; Valentino, Fabrizio; Trizzino, Angela; Guadagna, Paola; Talarico, Francesco
Large vessel thrombosis is a very rare clinical presentation of acute leukemia, generally associated with coagulopathy, usually characteristic of acute promyelocytic leukemia. A 13- year-old boy with a previously undiagnosed acute myeloid leukemia was referred to our hospital with acute ischemia of the right lower limb due to occlusion of the right external iliac artery, treated with emergency double surgical thromboembolectomy and chemotherapy. The thrombotic complication resulted in leg amputation. Now the boy is well in complete remission, with a good social integration and quality of life, 30 months after completing treatment. The report highlights the crucial role of early diagnosis and subsequent chemotherapy in avoiding amputation. We particularly focused critical and emotional aspects related to the communication about the leg amputation with the patient and his family. PMID:28058104
Casadei, Bruna Renata; De Oliveira Carvalho, Patrícia; Riske, Karin A; Barbosa, Raquel De Melo; De Paula, Eneida; Domingues, Cleyton Crepaldi
Membrane microdomains enriched in cholesterol, sphingolipids (rafts), and specific proteins are involved in important physiological functions. However their structure, size and stability are still controversial. Given that detergent-resistant membranes (DRMs) are in the liquid-ordered state and are rich in raft-like components, they might correspond to rafts at least to some extent. Here we monitor the lateral order of biological membranes by characterizing DRMs from erythrocytes obtained with Brij-98, Brij-58, and TX-100 at 4 °C and 37 °C. All DRMs were enriched in cholesterol and contained the raft markers flotillin-2 and stomatin. However, sphingomyelin (SM) was only found to be enriched in TX-100-DRMs - a detergent that preferentially solubilizes the membrane inner leaflet - while Band 3 was present solely in Brij-DRMs. Electron paramagnetic resonance spectra showed that the acyl chain packing of Brij-DRMs was lower than TX-100-DRMs, providing evidence of their diverse lipid composition. Fatty acid analysis revealed that the SM fraction of the DRMs was enriched in lignoceric acid, which should specifically contribute to the resistance of SM to detergents. These results indicate that lipids from the outer leaflet, particularly SM, are essential for the formation of the liquid-ordered phase of DRMs. At last, the differential solubilization process induced by Brij-98 and TX-100 was monitored using giant unilamellar vesicles. This study suggests that Brij and TX-100-DRMs reflect different degrees of lateral order of the membrane microdomains. Additionally, Brij DRMs are composed by both inner and outer leaflet components, making them more physiologically relevant than TX-100-DRMs to the studies of membrane rafts.
Tsintsadze, N; Beridze, L; Tsintsadze, N; Krichun, Y; Tsivadze, N; Tsintsadze, M
The aim of our study was to find out the magnitude of anxiety and depression in our common dermatological patients and its correlation with age, sex. For this purpose, we used Hospital Anxiety and Depression Scale HADS. The psychometric validity of HADS has been established by validating the questionnaire against the structured psychiatric interviews. A study of anxiety and depression in patients with dermatologic diseases was conducted on the basis of outpatients department in 211 patients with dermatologic diseases; among them were 107 male and 104 female, aged 16 to 75 years. Among them were patients with Acne, Alopecia Areata, Psoriasis, Vitiligo, Neurodermatitis, Scabies, Eczema and Other diseases (Atopic Dermatitis, Chronic Urticaria, Lichen Planus, Herpes Zoster, Melasma, Warts and Etc.). Based on studies of patients reveals that 65.4% of them are anxiety, depression - 56.2%, both anxiety and depression in 24.7%, there figures higher than the dates of other authorizes. As a result of a direct link research risk disorder depressive spectrum with sex, age; in woman anxiety and depression occurs more frequently than men, and anxiety occurs more frequently in young age. Especially there are hight frequencies of manifestation of abuse in patients with Psoriasis (anxiety - 83.3%, depression - 69.4%, both - 38.8%), Eczema (anxiety - 73.3%, depression - 56.6%, both - 26.7%), Acne (anxiety - 78.4%, depression - 54%, both - 21.6%), Vitiligo (anxiety - 66.7%, depression - 60%, both - 33.3%). Our study noticed higher dates of anxiety and depression than the dates of other outhorizes.
Frković, Aleksandra; Bosković, Zvonko
In the last 35 years, patient education has started to gradually develop at hospitals as well as in primary health care. Now, it is an integral part of communication in health care. Due to the expanding application of technology in the field of medicine, it is difficult to achieve appropriate and extensive patient education. Patient dissatisfaction with the given information on the illness, treatment and prognosis has contributed to professionalization of patient education. Nevertheless, patient education has not yet been acknowledged as a discipline. Patient education by health care professionals while providing health care services and through the process of informed consent requires professional and bioethical education of health care professionals and also patient commitment to actively cooperate with their doctors.
El-Islam, M F
The illness behaviour of Qatari psychiatric patients is defined by the nature of their symptomatology. The importance of somatic symptoms in determining the patient role and patient-doctor relationship is discussed in the light of cultural characteristics of the Qatari community. Delusory cultural beliefs related to possession, sorcery and envy provide a conceptual framework for explanation of many disorders. Inter-generational conflict is an important factor in neurotic disorders. Failure to report symptoms in an abstract fashion is characteristic of qatari patients. The cultural and religious heritage absorbs many behaviours which would otherwise be considered symptomatic of psychiatric disorder.
Desrosiers, Astrid; St Fleurose, Sheila
The Haitian community in the United States is growing steadily. They make up a significant portion of many cities. As a group, Haitian immigrants are a challenge to mental health professionals. Their view and concepts of the world are unique. Non-Haitian clinicians need to be knowledgeable of the culture in order to provide competent care. The goal of this article is to help clinicians understand aspects of Haitian culture that will facilitate mental health treatment. A historical perspective is offered since the history of Haiti has shaped society, families and therefore individuals. The role of the supernatural is addressed to provide a better understanding of the Haitian psyche. The political and economic climate in Haiti has led to a significant increase in the number of Haitians migrating to the United States. Haitians are faced with the challenge of adapting to a new culture; they experience stress and become vulnerable to mental illness. As a result, there is increasing demand for mental health services. This article highlights aspects of Haitian culture relevant to mental health clinicians. It provides an overview of Haitians' attitudes toward mental health and the utilization of psychotherapy. Concepts relevant to Voodoo beliefs and practices are discussed since these beliefs can shape attitudes, and compliance with treatment. Recommendations for engaging and maintaining Haitian clients in psychotherapy are made. Case vignettes are provided for illustration.
Abashev, I M; Rzaĭ, O V; Kozlova, A I; Moiseeva, M V; Shcherbatkina, K N; Vasil'eva, G T; Andreeva, T S
An anonymous questionnaire was filled by 129 patients with pulmonary tuberculosis to study bioethical aspects. It contained questions concerning a patient's attitude to obtaining full information on his/her disease, treatments, and physician-patient relations, keeping his/her disease confidential from the relatives, controlled and obligatory treatments.
Benedik, Emil; Dobnik, Sana Coderl
Many empirical studies give evidence of co-occurrence of mental and personality disorders (PDs). On the other hand theoretical models explain the relationship between personality and mental disorders from different perspectives. This research studied the phemenological aspects of PDs in adult psychiatric patients with different mental disorders according to cognitive and psychoanalytic criteria for personality pathology. In order to study personality pathology in different diagnostic groups we constructed a self-report Questionnaire of Personality Disorders (VMO-2) on the basis of the DSM-IV-TR classification of PD (APA 2000), Beck's theory of dysfunctional beliefs (Beck et al. 2004) and psychoanalytic theories of personality (Kernberg 1986). The content of items in VMO-2 reflected the phenomenology of PDs and is focused on the basic experience of self and others in specific personality types. The questionnaire consists of 193 items which are divided into 11 clinical scales (Histrionic, Obsessive-compulsive, Avoidant, Dependent, Depressive, Narcissistic, Borderline, Antisocial, Paranoid, Schizoid and Schizotypal PD scale) and a validity (Lie) scale. The sample of 642 adult patients with different mental disorders and 477 healthy controls of both genders served as subjects in the study. All groups of patients reached higher scores on VMO-2 and revealed more personality pathology as compared to the control group. There were differences in specific personality scales between patients of different diagnostic groups. The schizotypal PD scale discriminated significantly between patients with schizophrenia and the majority of other diagnostic groups. The group of patients with opioid dependence disorder reached the highest mean score on the scale for antisocial PD. Our results on VMO-2 show partial support for psychodynamic and cognitive theories of personality pathology. Results are also in accordance with other empirical studies which show that some characteristics of
Novaković, Milan; Babić, Dragan; Milovanović, Aleksandar; Tiosavljević-Marić, Danijela; Novaković, Radmila; Novaković, Mitar
The aim of this article is to compare the incidence of thanatophobia in dialysed patients having Balkan endemic nephropathy (BEN) with a control group (N18) members where some of them have chronic renal failure (CRF), but not (BEN). We examined thanatophobia on a sample of 753 dialysed patients with chronic renal failure (CRF) in Bosnia and Herzegovina (B&H) during the period from 1st January 2000 to 31st December 2006. The first group is a cohort consisted of 348 patients with Balkan endemic nephropathy (BEN), and the control group consisted of 405 randomly selected patients with different diagnoses of CRF (N18). The measurement instruments used were: General data list, Eysenck's Personality Questionnaire (EPQ), Beck's Anxiety Inventory (BAI), Hamilton's Depression Rating Scale (HDRS), and Mini-Mental State Examination (MMSE). Univariante and multivariante statistical analyses were carried out. From the multivariante analysis, the highest correlations with thanatophobia were found in these variables: avoidance of dialysis in BEN group: R=0.985, OR=0.358, CI=0.483-0.728 (95%), and in control group: R=0.550, OR=0.935, CI=0.615-0.830 (95%), age, years on dialysis, education, pervasive fear with statistical significance P=0.001. BEN group differentiates from control group: BAI-total (R=1.110, OR=0.578 (95%), CI=0.770-0.890, P=0.001), HDRS-total (R=0.995, OR=1.290 (95%), CI=1.180-1.920 P=0.001. BEN group have lower scores than the control group in MMSE-total: (R=0.430, OR=0.023 (95%), CI=0.034-2.850, P=0.001) which represents the organic part of anxiety. Thanatophobia is present in both groups, but it is more frequent in the BEN (11.70%) than in control group (7.50%). We found that thanatophobia occurs before dialysis, and that it is structured as a pervasive fear of death and is associated with endemia, years spent on dialysis, and avoidance of dialysis.
Sieverding, M; Kendel, F
Aspects of gender and gender roles are important factors influencing the interactions between physicians and their patients. On the one hand, gender roles have an impact on the behavior of the patients, such as in health care utilization or use of preventive examinations. On the other hand, gender issues influence doctors' actions with respect to communication, diagnosis, and treatment. Here, a gender bias may lead to misdiagnosis and inadequate treatment. In this paper certain pertinent aspects of gender roles in the doctor-patient relationship are discussed and illustrated by empirical findings.
Able to deploy within one hour of notification, EPA's Airborne Spectral Photometric Environmental Collection Technology (ASPECT) is the nation’s only airborne real-time chemical and radiological detection, infrared and photographic imagery platform.
Levinson, Wendy; And Others
Attitudes of 120 residents from three teaching hospitals about psychosocial aspects of patient care and the feasibility of teaching psychosocial skills to residents were compared to those of 86 practicing internists, 42 psychiatrists, 29 academic general internists, and 63 surgeons. The newly developed scale was seen as useful in evaluating…
Mazzeo, Giuseppe; Abbate, Sergio; Longhi, Giovanna; Castiglioni, Ettore; Villani, Claudio
Vibrational circular dichroism spectra (VCD) in the mid-IR region and electronic circular dichroism (ECD) spectra for three carnitine derivatives in the form of hydrochloride salts were recorded in deuterated methanol solutions. Density Functional Theory calculations help one to understand the significance of the observed VCD bands. VCD and ECD spectra are informative about the absolute configuration of the molecule, but VCD data reveal also some conformational aspects in the N,N,N-trimethyl moiety and inform us about intermolecular interactions gained from the carbonyl stretching region for the acyl substituted carnitines.
Toka, Okan; Karl, Matthias; Dittrich, Sven; Holst, Stefan; Holst, Alexandra
DiGeorge syndrome, which is caused by a microdeletion of 1.5 to 3.0 megabases on the long arm of chromosome 22, has an incidence of approximately 1:4,000 to 1:5,000 live births. The phenotypic spectrum of this disorder includes congenital heart defects, immunodeficiency due to thymic hypoplasia or aplasia, transient or permanent hypocalcemia due to parathyroid hypoplasia or aplasia, developmental retardation, and psychiatric disorders. Dental aspects in these patients include skeletal malformations, velopharyngeal insufficiency with or without cleft palate, small mouth, and hypotonus orofacial musculature, as well as impaired salivary flow. Enamel aberrations related to hypocalcemia may result in a higher frequency of dental caries. Based on a series of five patients, the medical and dental aspects that have to be considered in the care of patients with DiGeorge syndrome are presented.
Chew, Boon-How; Shariff-Ghazali, Sazlina; Fernandez, Aaron
Patients with diabetes mellitus (DM) need psychological support throughout their life span from the time of diagnosis. The psychological make-up of the patients with DM play a central role in self-management behaviors. Without patient's adherence to the effective therapies, there would be persistent sub-optimal control of diseases, increase diabetes-related complications, causing deterioration in quality of life, resulting in increased healthcare utilization and burden on healthcare systems. However, provision of psychosocial support is generally inadequate due to its challenging nature of needs and demands on the healthcare systems. This review article examines patient's psychological aspects in general, elaborates in particular about emotion effects on health, and emotion in relation to other psychological domains such as cognition, self-regulation, self-efficacy and behavior. Some descriptions are also provided on willpower, resilience, illness perception and proactive coping in relating execution of new behaviors, coping with future-oriented thinking and influences of illness perception on health-related behaviors. These psychological aspects are further discussed in relation to DM and interventions for patients with DM. Equipped with the understanding of the pertinent nature of psychology in patients with DM; and knowing the links between the psychological disorders, inflammation and cardiovascular outcomes would hopefully encourages healthcare professionals in giving due attention to the psychological needs of patients with DM.
Kantrowitz, J L
Attempts to define the central factors contributing to psychological change from psychoanalytic treatment have occurred throughout the history of psychoanalysis. Insight from interpretations and clarifications and the affective relationship to the analyst are agreed to be the crucial elements in analytic work as they play out in the transference and resistance. Each patient and analyst pair, however, has its own unique interaction. Even though patients potentially may have successful analyses with many different analysts, the experience of each patient-analyst dyad has its own non-replicable characteristics. The interdigitation of the particular characteristics of the analyst and the patient may be therapeutically beneficial and may determine the depth and range of work in any specific area. An illustration is offered where the positive impact of an interaction came from subtle, often non-verbal aspects of a particular patient-analyst pair. The author's thesis is that, in addition to the analyst's technical and empathic skill, the subtle aspects of character and conflict of both patient and analyst and their interplay constitutes a central therapeutic factor in analytic work.
Chew, Boon-How; Shariff-Ghazali, Sazlina; Fernandez, Aaron
Patients with diabetes mellitus (DM) need psychological support throughout their life span from the time of diagnosis. The psychological make-up of the patients with DM play a central role in self-management behaviors. Without patient’s adherence to the effective therapies, there would be persistent sub-optimal control of diseases, increase diabetes-related complications, causing deterioration in quality of life, resulting in increased healthcare utilization and burden on healthcare systems. However, provision of psychosocial support is generally inadequate due to its challenging nature of needs and demands on the healthcare systems. This review article examines patient’s psychological aspects in general, elaborates in particular about emotion effects on health, and emotion in relation to other psychological domains such as cognition, self-regulation, self-efficacy and behavior. Some descriptions are also provided on willpower, resilience, illness perception and proactive coping in relating execution of new behaviors, coping with future-oriented thinking and influences of illness perception on health-related behaviors. These psychological aspects are further discussed in relation to DM and interventions for patients with DM. Equipped with the understanding of the pertinent nature of psychology in patients with DM; and knowing the links between the psychological disorders, inflammation and cardiovascular outcomes would hopefully encourages healthcare professionals in giving due attention to the psychological needs of patients with DM. PMID:25512782
In the ventilator-dependent patient, the nonpsychological problems of the chronic phase relate mainly to aspects of the patient ventilator interface. Humidification, suctioning of secretions, and ventilatory circuit and monitoring are the three most important aspects to which careful attention is needed. Good humidification can be obtained by means of various devices, which can provide humidity directly or indirectly: in the tracheostomized patient, the heat and moisture exchanger appears to be a good method because of its antibacterial properties. Airway suctioning is frequently needed in patients receiving ventilation invasively. Suctioning of secretions might possibly be associated with the risk of major cardiorespiratory complications: bacterial colonization of the airways and the subsequent increased risk of infection should be carefully considered. Problems concerning the ventilatory circuit and monitoring can be specific in patients with a tracheal cannula and those with a nasal/facial interface. Long-term tracheostomy in itself represents a real risk for bacterial colonization, damage to the tracheal mucosa, and to functioning of the vocal cords (both for speech and swallowing): therefore, a switch from invasive to noninvasive ventilatory interface may be proposed. Most problems with the nasal mask interface concern air leakage and the skin mucosal lesions. Two major aspects must be taken into account when considering the long-term effects of noninvasive ventilatory support monitoring: the possible effect of CO2 rebreathing, and the inadequate volume/pressure delivery, so that proper ventilation cannot be achieved. Use of an oral/mouth interface is of limited interest in subjects with restrictive disorders: air gastric distension and orthodontic problems are the most common side-effects in chronic use.
Cronauer, C Klöckner; Schmid Mast, M
This article aims at shedding light on the role of physician and patient gender in the medical consultation. Because of the scarce amount of studies concentrating on gender aspects of the physician-patient interaction in rehabilitation or chronic disease, mostly results from general medicine are reported. Female physicians have a more emotional and less dominant communication style. Female patients bring up more psychosocial topics and disclose more information about themselves in general. Both female and male physicians give more information and apply a more partnership-oriented communication style when seeing a female patient. Female and male patients communicate more partnership-oriented with female physicians and share more psychosocial and medical information with them. Same-gender dyads seem beneficial most of the time for physician-patient communication. Mixed-gender dyads are more difficult, especially when a younger female physician sees a male patient. There is no single good communication style recommendable for all physicians. Rather, the research results presented should be applied to communication trainings for physicians. This could provide physicians with a flexible choice of communication styles to apply according to different situations.
Abenavoli, Ludovico; Milic, Natasa; Di Renzo, Laura; Preveden, Tomislav; Medić-Stojanoska, Milica; De Lorenzo, Antonino
Nonalcoholic fatty liver disease (NAFLD) is a major cause of chronic liver disease and it encompasses a spectrum from simple steatosis to steatohepatitis, fibrosis, or cirrhosis. The mechanisms involved in the occurrence of NAFLD and its progression are probably due to a metabolic profile expressed within the context of a genetic predisposition and is associated with a higher energy intake. The metabolic syndrome (MS) is a cluster of metabolic alterations associated with an increased risk for the development of cardiovascular diseases and diabetes. NAFLD patients have more than one feature of the MS, and now they are considered the hepatic components of the MS. Several scientific advances in understanding the association between NAFLD and MS have identified insulin resistance (IR) as the key aspect in the pathophysiology of both diseases. In the multi parallel hits theory of NAFLD pathogenesis, IR was described to be central in the predisposition of hepatocytes to be susceptible to other multiple pathogenetic factors. The recent knowledge gained from these advances can be applied clinically in the prevention and management of NAFLD and its associated metabolic changes. The present review analyses the current literature and highlights the new evidence on the metabolic aspects in the adult patients with NAFLD. PMID:27610012
Background Balkan endemic nephropathy (BEN) represents a chronic progressive interstitial nephritis in striking correlation with uroepithelial tumours of the upper urinary tract. The disease has endemic distribution in the Danube river regions in several Balkan countries. DNA methylation is a primary epigenetic modification that is involved in major processes such as cancer, genomic imprinting, gene silencing, etc. The significance of CpG island methylation status in normal development, cell differentiation and gene expression is widely recognized, although still stays poorly understood. Methods We performed whole genome DNA methylation array analysis on DNA pool samples from peripheral blood from 159 affected individuals and 170 healthy individuals. This technique allowed us to determine the methylation status of 27 627 CpG islands throughout the whole genome in healthy controls and BEN patients. Thus we obtained the methylation profile of BEN patients from Bulgarian and Serbian endemic regions. Results Using specifically developed software we compared the methylation profiles of BEN patients and corresponding controls and revealed the differently methylated regions. We then compared the DMRs between all patient-control pairs to determine common changes in the epigenetic profiles. SEC61G, IL17RA, HDAC11 proved to be differently methylated throughout all patient-control pairs. The CpG islands of all 3 genes were hypomethylated compared to controls. This suggests that dysregulation of these genes involved in immunological response could be a common mechanism in BEN pathogenesis in both endemic regions and in both genders. Conclusion Our data propose a new hypothesis that immunologic dysregulation has a place in BEN etiopathogenesis. PMID:24131581
Pidlyskyj, K; Roddam, H; Rawlinson, G; Selfe, J
To explore the reported value of physiotherapy care received by patients who had accessed a Specialist Breast Care Physiotherapy Service. Exploratory qualitative study using in-depth interviews to explore aspects of physiotherapy care valued by breast cancer patients. Thematic network analysis was used to interpret the data and bring together the different experiences of the participants and identify common themes. Physiotherapy Department at a NHS Foundation Trust Teaching Hospital. Nineteen participants were recruited and three were selected to take part in the in-depth interviews. All participants had received physiotherapy care from a Specialist Breast Care Physiotherapy Service and had been discharged within the last six months. Participants valued a patient-centred holistic approach to care and access to a Specialist Service with an experienced clinician. In particular the importance of the therapeutic alliance and the value of psychological, emotional and educational support emerged, with the participants feeling empowered in their recovery. Participants reported an overall positive experience of their physiotherapy care. This study supports the need for service providers to evaluate their current physiotherapy provision and subsequently develop Specialised Services to meet the physiotherapy needs of breast cancer patients throughout all stages of their treatment pathway from the delivery of pre-operative care through to post-treatment follow-up. Copyright © 2014 Chartered Society of Physiotherapy. Published by Elsevier Ltd. All rights reserved.
Twisk, J W R; Hoogendijk, E O; Zwijsen, S A; de Boer, M R
Within epidemiology, a stepped wedge trial design (i.e., a one-way crossover trial in which several arms start the intervention at different time points) is increasingly popular as an alternative to a classical cluster randomized controlled trial. Despite this increasing popularity, there is a huge variation in the methods used to analyze data from a stepped wedge trial design. Four linear mixed models were used to analyze data from a stepped wedge trial design on two example data sets. The four methods were chosen because they have been (frequently) used in practice. Method 1 compares all the intervention measurements with the control measurements. Method 2 treats the intervention variable as a time-independent categorical variable comparing the different arms with each other. In method 3, the intervention variable is a time-dependent categorical variable comparing groups with different number of intervention measurements, whereas in method 4, the changes in the outcome variable between subsequent measurements are analyzed. Regarding the results in the first example data set, methods 1 and 3 showed a strong positive intervention effect, which disappeared after adjusting for time. Method 2 showed an inverse intervention effect, whereas method 4 did not show a significant effect at all. In the second example data set, the results were the opposite. Both methods 2 and 4 showed significant intervention effects, whereas the other two methods did not. For method 4, the intervention effect attenuated after adjustment for time. Different methods to analyze data from a stepped wedge trial design reveal different aspects of a possible intervention effect. The choice of a method partly depends on the type of the intervention and the possible time-dependent effect of the intervention. Furthermore, it is advised to combine the results of the different methods to obtain an interpretable overall result. Copyright © 2016 Elsevier Inc. All rights reserved.
Pashandi, Zaiddodine; Saraygord-Afshari, Neda; Naderi-Manesh, Hossein; Naderi, Mostafa
Objective. Sulfur mustard (SM) is a highly reactive alkylating agent which produces ocular, respiratory, and skin damages. Eyes are the most sensitive organ to SM due to high intrinsic metabolic and rapid turnover rate of corneal epithelium and aqueous-mucous interfaces of the cornea and conjunctiva. Here we investigate underlying molecular mechanism of SM exposure delayed effects which is still a controversial issue after about 30 years. Materials and Methods. Following ethical approval, we have analyzed serum proteome of ten severe SM exposed male patients with delayed eye symptoms with two-dimensional electrophoresis followed by matrix-assisted laser desorption/ionization time-of-flight/time-of-flight mass spectrometry. The western blotting was used to confirm the proteins that have been identified. Results. We have identified thirteen proteins including albumin, haptoglobin, and keratin isoforms as well as immunoglobulin kappa chain which showed upregulation while transferrin and alpha 1 antitrypsin revealed downregulation in these patients in comparison with healthy control group. Conclusions. Our results elevated participation of free iron circulatory imbalance and local matrix-metalloproteinase activity in development of delayed ocular symptoms induced by SM. It demonstrates that SM induced systemic toxicity leads to some serum protein changes that continually and gradually exacerbate the ocular surface injuries. PMID:25685557
Reducing the number of preventable adverse events has become a public health issue. The paper discusses in which ways the law can contribute to that goal, especially by encouraging a culture of safety among healthcare professionals. It assesses the need or the usefulness to pass so-called disclosure laws and apology laws, to adopt mandatory but strictly confidential Critical Incidents Reporting Systems in hospitals, to change the fault-based system of medical liability or to amend the rules on criminal liability. The paper eventually calls for adding the law to the present agenda of patient safety. Significance for public health The extent of preventable adverse events and the correlative need to improve patient safety are recognized today as a public health issue. In order to lower the toll associated with preventable adverse events, the former culture of professionalism (based on the premise that a good physician doesn’t make mistakes) must be replaced by a culture of safety, which requires a multi-pronged approach that includes all the main stakeholders within the healthcare system. A number of legal reforms could help in prompting such a change. This contribution stresses the need to include legal aspects when trying to find appropriate responses to public health issues. PMID:25170502
Li, Qiuping; Loke, Alice Yuen
Although there is a vast body of studies exploring the negative aspects of spousal caregiving for cancer patients, there have also been reports on the positive aspects. The objective of this review was to summarize and appraise the positive aspects of spousal caregiving and to identify directions for future research. A systematic search was conducted to identity articles published in English or Chinese from January 1996 to July 2012. Studies were located using an electronic search, a manual search, and an author search. A total of 35 articles were identified and included in this review. The focus of these studies and their results were described on the basis of the Conceptual Framework of the Positive Aspects of Caregiving. The findings revealed that spousal caregivers for cancer patients experienced various positive aspects of caregiving, such as an enhanced relationship with the care-receiver, the feeling of being rewarded, a sense of personal growth, and a perception of personal satisfaction. Daily enrichment events and self-efficacy on the part of the caregivers were identified as the determining factors in the positive aspects of caregiving. All of the three domains of the positive aspects of caregiving are interdependent and worked together to contribute to the positive outcomes experienced by spousal caregivers. An intervention program specially designed to enhance the positive aspects of caregiving will support spouses caring for cancer patients. Copyright © 2013 John Wiley & Sons, Ltd.
Chervinskii, S.; Drevinskas, R.; Karpov, D. V.; Beresna, M.; Lipovskii, A. A.; Svirko, Yu. P.; Kazansky, P. G.
We studied a femtosecond laser shaping of silver nanoparticles embedded in soda-lime glass. Comparing experimental absorption spectra with the modeling based on Maxwell Garnett approximation modified for spheroidal inclusions, we obtained the mean aspect ratio of the re-shaped silver nanoparticles as a function of the laser fluence. We demonstrated that under our experimental conditions the spherical shape of silver nanoparticles changed to a prolate spheroid with the aspect ratio as high as 3.5 at the laser fluence of 0.6 J/cm2. The developed approach can be employed to control the anisotropy of the glass-metal composites. PMID:26348691
Sarr, Simon Antoine; Babaka, Kana; Mboup, Mouhamadou Cherif; Fall, Pape Diadie; Dia, Khadidiatou; Bodian, Malick; Ndiaye, Mouhamadou Bamba; Kane, Adama; Diao, Maboury; Ba, Serigne Abdou
Arterial hypertension (HTA) in the elderly is an independent risk factor for cardiovascular disease. Our study aims to describe the clinical, electrocardiographic and echocardiographic aspects of Arterial hypertension in elderly patients. We conducted a descriptive, cross-sectional study from January to September 2013. Hypertensive patients =60 years treated in Outpatient Cardiology Department at the Principal Hospital in Dakar were included in the study. Statistical data were analyzed using Epi Info 7 software and a p-value < 0.05 was taken as significant. A total of 208 patients were enrolled in the study. The average age was 69.9 years with a female predominance (sex ratio 0.85). Average blood pressure was 162/90 mm Hg. HTA was under control in 13% of cases. The ECG showed evidence of rhythm disturbance (17.78%), left atrial enlargement (45.19%), left ventricular hypertrophy (28.85%) and complete atrioventricular block in 2 cases. Holter ECG revealed non-sustained ventricular tachycardia (Lown class IVb) in 4 cases, paroxysmal atrial fibrillation in 6 cases and paroxysmal atrial flutter in 1 case. Echocardiography performed in 140 patients showed mainly concentric left ventricular hypertrophy in 25 patients, occuring more frequently in males (p=0,04) and dilated left atrium in 56,42% of cases, occuring more frequently in elderly patients (p= 0,01). Electrocardiographic and echocardiographic aspects in elderly hypertensive population are characterized by concentric left ventricular hypertrophy and by the frequency of arrhythmias sometimes revealed by long-term continuous external electrocardiographic recording.
Kumar, Blessina Amulya
To highlight the need for post-treatment rehabilitation of TB patient; including social psychological and economic aspects. Patient interaction, informal interviews, field observations and secondary research. The minimum duration of treatment (for drug-susceptible TB) is 6months. Treatment for drug-resistant TB can be from anywhere between 18 and 24months. In some cases treatment can last for more than 5years. Despite this, little attention is given to the social, psychological and economic impact extended treatment can have on the lives of individuals. Due, to a large extent, to the high levels of stigma that continue to exist in many high-burden countries, people affected must face obstacles even before diagnosis. These challenges persist at every stage of the treatment process (diagnosis, accessing appropriate care, treatment and post-treatment), but impact the individual's lives in various ways. Research has shown that despite diagnosis and treatment being provided for free, most individuals have to face high out-of-pocket expenditure (on transport, additional medication, nutritional supplementation etc.). In many countries, these expenses often have a significant negative impact on family finances. In most national programs, pre-treatment counselling is not included. This means that those affected are not prepared for the implications (in terms of time, money and physiological effects) that their treatment can have. The side effects of TB medication (especially DR-TB) are sometimes extreme, and require extensive therapy and/or rehabilitation. Some side effects such as hearing-loss are often permanent. Nutritional support is another key factor that receives little attention in national programs. Adding to all these physiological challenges is the constant stigma and discrimination that individuals face from friends, family and even healthcare workers. Returning to jobs or to their education is a challenge as many workplaces and educational institutions do not
TIĞLI FİLİZER, Arzu; CERİT, Cem; TÜZÜN, Başak; AKER, Ahmet Tamer
Introduction Many studies have demonstrated that patients with bipolar disorder (BD) suffer from significant functional impairment, even during remission periods. This study aimed to assess the levels of overall functioning and specific areas of functioning in remitted patients with BD compared with those in healthy controls. Methods Eighty completely remitted patients with BD and 80 healthy controls were included in the study. The Bipolar Disorder Functioning Questionnaire (BDFQ), Young Mania Rating Scale, and Beck Depression Inventory were used. Results There were fewer married and employed cohorts in the BD group than in the control group. Compared with healthy controls, patients with BD exhibited a worse functioning in terms of intellectual and sexual functioning, feelings of stigmatization, social withdrawal, household relationships, relationships with friends, and participation in social activities. There was no difference between the groups in terms of emotional functioning, daily activities and hobbies, taking initiative and self-sufficiency, and occupation. The total BDFQ scores of patients were lower than those of healthy controls. A better functionality was observed in patients using only a mood stabilizer than in patients using three or more drugs. Conclusion Remarkably, remitted patients with BD tended to perform daily activities well when these activities were not in a social context. Stigma-oriented interpersonal approaches can be particularly beneficial for these patients. PMID:28360789
Kim, Hye-Sil; Choi, Yong-Sang; Kim, Joo-Hong; Kim, WonMoo
High-impact cold extremes have continued to bring devastating socioeconomic losses in recent years. In order to explain the exposure to cold extremes more comprehensively, this study investigates multiple aspects of boreal winter cold extremes, i.e., frequency, persistence, and entropy (Markovian descriptors). Cold extremes are defined by the bottom 10th percentile of daily minimum temperatures during 1950-2014 over the northern hemisphere. The spatial and temporal distributions of Markovian descriptors during 65 years are examined. Climatological mean fields show the spatial coincidence of higher frequency, shorter persistence, and higher entropy of cold extremes, and vice versa. In regard to the temporal variations over six representative regions of North America, Europe, and Asia, all regions share a decreasing tendency of frequency with the increases in regional winter mean temperature. By contrast, persistence and entropy show their intrinsic decadal variability depending on regions irrespective of the regional temperature variability, which give different information from frequency. Therefore, the exposure to cold extremes would not simply decrease with regional warming. Rather these results indicate that the descriptors with multiple aspects of the extremes would be needed to embrace the topical features as well as the holistic nature of cold extremes.
Maniatsi, Stefania; Farmaki, Theodora; Abatzopoulos, Theodore J
Research on stress responses in animals has increased greatly during the last decades. Though most studies focus on the cellular and molecular bases of the stress response mechanisms, the ecological and evolutionary aspects of stress responses gain more and more interest. Here, we use species and parthenogenetic strains of the genus Artemia, an extremophile model organism, to study, for the first time, a protein well known for its chaperone activity and its involvement in stress responses. More specifically, transcription and protein accumulation of an FK506-Binding Protein (FKBP) homologue were investigated under heat and salt stresses. Additionally, the mRNA levels of ubiquitin, a heat-inducible protein related to the proteasomal pathway, were quantitated under these conditions. Biochemical and phylogenetic analyses showed that the studied FKBP orthologue is a typical representative of the family that clusters with other crustacean sequences. The expression was increased in both fkbp and ubiquitin genes after salt and heat stresses. However, our results in combination with the fact that Artemia species and parthenogenetic strains, selected for this study, exhibit different heat or salt tolerance provide useful hints about the evolutionary significance of FKBP and ubiquitin. Regarding FKBP, mRNA expression and protein accumulation seem to depend on the environmental conditions and the evolutionary history of each Artemia population while ubiquitin has a clear and more conserved role under heat shock. Copyright © 2015 Elsevier Inc. All rights reserved.
Thompson, Claudia Elizabeth; Beys-da-Silva, Walter Orlando; Santi, Lucélia; Berger, Markus; Vainstein, Marilene Henning; Guima Rães, Jorge Almeida; Vasconcelos, Ana Tereza Ribeiro
The mangroves are among the most productive and biologically important environments. The possible presence of cellulolytic enzymes and microorganisms useful for biomass degradation as well as taxonomic and functional aspects of two Brazilian mangroves were evaluated using cultivation and metagenomic approaches. From a total of 296 microorganisms with visual differences in colony morphology and growth (including bacteria, yeast and filamentous fungus), 179 (60.5%) and 117 (39.5%) were isolated from the Rio de Janeiro (RJ) and Bahia (BA) samples, respectively. RJ metagenome showed the higher number of microbial isolates, which is consistent with its most conserved state and higher diversity. The metagenomic sequencing data showed similar predominant bacterial phyla in the BA and RJ mangroves with an abundance of Proteobacteria (57.8% and 44.6%), Firmicutes (11% and 12.3%) and Actinobacteria (8.4% and 7.5%). A higher number of enzymes involved in the degradation of polycyclic aromatic compounds were found in the BA mangrove. Specific sequences involved in the cellulolytic degradation, belonging to cellulases, hemicellulases, carbohydrate binding domains, dockerins and cohesins were identified, and it was possible to isolate cultivable fungi and bacteria related to biomass decomposition and with potential applications for the production of biofuels. These results showed that the mangroves possess all fundamental molecular tools required for building the cellulosome, which is required for the efficient degradation of cellulose material and sugar release.
The mangroves are among the most productive and biologically important environments. The possible presence of cellulolytic enzymes and microorganisms useful for biomass degradation as well as taxonomic and functional aspects of two Brazilian mangroves were evaluated using cultivation and metagenomic approaches. From a total of 296 microorganisms with visual differences in colony morphology and growth (including bacteria, yeast and filamentous fungus), 179 (60.5%) and 117 (39.5%) were isolated from the Rio de Janeiro (RJ) and Bahia (BA) samples, respectively. RJ metagenome showed the higher number of microbial isolates, which is consistent with its most conserved state and higher diversity. The metagenomic sequencing data showed similar predominant bacterial phyla in the BA and RJ mangroves with an abundance of Proteobacteria (57.8% and 44.6%), Firmicutes (11% and 12.3%) and Actinobacteria (8.4% and 7.5%). A higher number of enzymes involved in the degradation of polycyclic aromatic compounds were found in the BA mangrove. Specific sequences involved in the cellulolytic degradation, belonging to cellulases, hemicellulases, carbohydrate binding domains, dockerins and cohesins were identified, and it was possible to isolate cultivable fungi and bacteria related to biomass decomposition and with potential applications for the production of biofuels. These results showed that the mangroves possess all fundamental molecular tools required for building the cellulosome, which is required for the efficient degradation of cellulose material and sugar release. PMID:24160319
Lorenz, Robin; Moon, Eui-Whan; Kim, Jeong Joo; Schmidt, Sven H; Sankaran, Banumathi; Pavlidis, Ioannis V; Kim, Choel; Herberg, Friedrich W
Cyclic AMP and cyclic GMP are ubiquitous second messengers that regulate the activity of effector proteins in all forms of life. The main effector proteins, the 3',5'-cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA) and the 3',5'-cyclic guanosine monophosphate (cGMP)-dependent protein kinase (PKG), are preferentially activated by cAMP and cGMP, respectively. However, the molecular basis of this cyclic nucleotide selectivity is still not fully understood. Analysis of isolated cyclic nucleotide-binding (CNB) domains of PKA regulatory subunit type Iα (RIα) reveals that the C-terminal CNB-B has a higher cAMP affinity and selectivity than the N-terminal CNB-A. Here, we show that introducing cGMP-specific residues using site-directed mutagenesis reduces the selectivity of CNB-B, while the combination of two mutations (G316R/A336T) results in a cGMP-selective binding domain. Furthermore, introducing the corresponding mutations (T192R/A212T) into the PKA RIα CNB-A turns this domain into a highly cGMP-selective domain, underlining the importance of these contacts for achieving cGMP specificity. Binding data with the generic purine nucleotide 3',5'-cyclic inosine monophosphate (cIMP) reveal that introduced arginine residues interact with the position 6 oxygen of the nucleobase. Co-crystal structures of an isolated CNB-B G316R/A336T double mutant with either cAMP or cGMP reveal that the introduced threonine and arginine residues maintain their conserved contacts as seen in PKG I CNB-B. These results improve our understanding of cyclic nucleotide binding and the molecular basis of cyclic nucleotide specificity. © 2017 The Author(s); published by Portland Press Limited on behalf of the Biochemical Society.
Šrut, Maja; Štambuk, Anamaria; Klobučar, Göran I V
DNA damage detected by genotoxicity biomarkers such as the Comet assay is not always a reliable indicator of the consequences that genotoxic agents can have on the genome integrity of the exposed organisms. Therefore, to reveal the existence of more permanent alterations of DNA structure after genotoxic stress, the RTG-2 rainbow trout cell line was exposed for 3 days to benzo[a]pyrene (B[a]P, 0.1-10 μM) and ethyl methanesulfonate (EMS, 0.1-1mM) followed by 3 days of recovery period. Primary DNA damage was evaluated by the Comet assay and DNA alterations were assessed using AFLP (amplified fragment length polymorphism). Qualitative and quantitative modifications in AFLP profiles were analyzed in order to detect genetic alterations arising from mutation events and/or DNA damage. Significant induction in DNA damage measured by the Comet assay was noticed after B[a]P treatment at all concentrations but values returned to the control level after recovery. Exposure to EMS induced significant DNA damage only at the highest concentration and damage persisted after the recovery period. AFLP profiles detected DNA alterations even when Comet assay indicated complete DNA repair, revealing more persistent damage. Since such DNA damage can impair its structure and function, Comet assay results should preferably be supplemented with other methods in order to predict the consequences of genotoxic insult more accurately.
Lux, Heike; Flammann, Heiko; Hafner, Mathias; Lux, Andreas
The paternally expressed gene PEG10 is a retrotransposon derived gene adapted through mammalian evolution located on human chromosome 7q21. PEG10 codes for at least two proteins, PEG10-RF1 and PEG10-RF1/2, by -1 frameshift translation. Overexpression or reinduced PEG10 expression was seen in malignancies, like hepatocellular carcinoma or B-cell acute and chronic lymphocytic leukemia. PEG10 was also shown to promote adipocyte differentiation. Experimental evidence suggests that the PEG10-RF1 protein is an inhibitor of apoptosis and mediates cell proliferation. Here we present new data on the genomic organization of PEG10 by identifying the major transcription start site, a new splice variant and report the cloning and analysis of 1.9 kb of the PEG10 promoter. Furthermore, we show for the first time that PEG10 translation is initiated at a non-AUG start codon upstream of the previously predicted AUG codon as well as at the AUG codon. The finding that PEG10 translation is initiated at different sides adds a new aspect to the already interesting feature of PEG10's -1 frameshift translation mechanism. It is now important to unravel the cellular functions of the PEG10 protein variants and how they are related to normal or pathological conditions. The generated promoter-reporter constructs can be used for future studies to investigate how PEG10 expression is regulated. In summary, our study provides new data on the genomic organization as well as expression and translation of PEG10, a prerequisite in order to study and understand the role of PEG10 in cancer, embryonic development and normal cell homeostasis.
Gheorghiu, M.; Bratu, D.; Olaru, A.; Polonschii, C.; Gheorghiu, E.
In spite of recent advancement of novel optical and electrical techniques, availability of non-invasive, label-free methods to assess membrane potential of living cells is still an open issue. The theory linking membrane potential to the low frequency α dispersion exhibited by suspensions of spherical shelled particles (presenting a net charge distribution on the inner side of the shell) has been pioneered in our previous studies with emphasis on the permittivity spectra. We now report on both theoretical and experimental aspects showing that whereas α dispersion is related to a rather large variation exhibited by the permittivity spectrum the decrement presented by impedance magnitude spectrum is either extremely small, or occurs (for large cells) at very low frequencies (~mHz) explaining the lack of experimental bioimpedance data on the matter. Based on the microscopic model we indicate that an appropriate design of the experiment may enable access to membrane potential as well as to other relevant parameters when investigating living cells and charged lipid vesicles. We discuss the effect on the low frequency of permittivity and impedance spectra of: I. Parameters pertaining to cell membrane i.e. (i) membrane potential, (ii) size of the cells/vesicles, (iii) conductivity; II. Conductivity of the outer medium. A novel measuring set-up has recently been developed within the International Centre of Biodynamics allowing for sensitive low frequency (~10mHz) four point (bio)impedance assays. Its capability to test theoretical predictions is reported as well. The far reaching implications of this study applicability for life sciences (noninvasive access to the dynamics of relevant cell parameters) as well as for biosensing applications, e.g. assess the cytotoxicity of a wide range of stimuli, will be outlined.
Bensi, Manuel; Velaoras, Dimitris; Cardin, Vanessa; Perivoliotis, Leonidas; Pethiakis, George
Long-term variations of temperature and salinity observed in the Adriatic and Aegean Seas seem to be regulated by larger-scale circulation modes of the Eastern Mediterranean (EMed) Sea, such as the recently discovered feedback mechanisms, namely the BiOS (Bimodal Oscillating System) and the internal thermohaline pump theories. These theories are the results of interpretation of many years' observations, highlighting possible interactions between two key regions of the EMed. Although repeated oceanographic cruises carried out in the past or planned for the future are a very useful tool for understanding the interaction between the two basins (e.g. alternating dense water formation, salt ingressions), recent long time-series of high frequency (up to 1h) sampling have added valuable information to the interpretation of internal mechanisms for both areas (i.e. mesoscale eddies, evolution of fast internal processes, etc.). During the last 10 years, three deep observatories were deployed and maintained in the Adriatic, Ionian, and Aegean Seas: they are respectively, the E2-M3A, the Pylos, and the E1-M3A. All are part of the largest European network of Fixed Point Open Ocean Observatories (FixO3, http://www.fixo3.eu/). Herein, from the analysis of temperature and salinity, and potential density time series collected at the three sites from the surface down to the intermediate and deep layers, we will discuss the almost perfect anti-correlated behavior between the Adriatic and the Aegean Seas. Our data, collected almost continuously since 2006, reveal that these observatories well represent the thermohaline variability of their own areas. Interestingly, temperature and salinity in the intermediate layer suddenly increased in the South Adriatic from the end of 2011, exactly when they started decreasing in the Aegean Sea. Moreover, Pylos data used together with additional ones (e.g. Absolute dynamic topography, temperature and salinity data from other platforms) collected
Riley, B.E.; Lougheed, J.C.; Callaway, K.; Velasquez, M.; Brecht, E.; Nguyen, L.; Shaler, T.; Walker, D.; Yang, Y.; Regnstrom, K.; Diep, L.; Zhang, Z.; Chiou, S.; Bova, M.; Artis, D.R.; Yao, N.; Baker, J.; Yednock, T.; Johnston, J.A.
Parkin is a RING-between-RING E3 ligase that functions in the covalent attachment of ubiquitin to specific substrates, and mutations in Parkin are linked to Parkinson’s disease, cancer and mycobacterial infection. The RING-between-RING family of E3 ligases are suggested to function with a canonical RING domain and a catalytic cysteine residue usually restricted to HECT E3 ligases, thus termed ‘RING/HECT hybrid’ enzymes. Here we present the 1.58 Å structure of Parkin-R0RBR, revealing the fold architecture for the four RING domains, and several unpredicted interfaces. Examination of the Parkin active site suggests a catalytic network consisting of C431 and H433. In cells, mutation of C431 eliminates Parkin-catalysed degradation of mitochondria, and capture of an ubiquitin oxyester confirms C431 as Parkin’s cellular active site. Our data confirm that Parkin is a RING/HECT hybrid, and provide the first crystal structure of an RING-between-RING E3 ligase at atomic resolution, providing insight into this disease-related protein. PMID:23770887
Takahashi, Hideyuki; Ban, Midori; Asada, Minoru
As humans, we tend to perceive minds in both living and non-living entities, such as robots. From a questionnaire developed in a previous mind perception study, authors found that perceived minds could be located on two dimensions “experience” and “agency.” This questionnaire allowed the assessment of how we perceive minds of various entities from a multi-dimensional point of view. In this questionnaire, subjects had to evaluate explicit mental capacities of target characters (e.g., capacity to feel hunger). However, we sometimes perceive minds in non-living entities, even though we cannot attribute these evidently biological capacities to the entity. In this study, we performed a large-scale web survey to assess mind perception by using the semantic differential scale method. We revealed that two mind dimensions “emotion” and “intelligence,” respectively, corresponded to the two mind dimensions (experience and agency) proposed in a previous mind perception study. We did this without having to ask about specific mental capacities. We believe that the semantic differential scale is a useful method to assess the dimensions of mind perception especially for non-living entities that are hard to be attributed to biological capacities. PMID:27853445
Takahashi, Hideyuki; Ban, Midori; Asada, Minoru
As humans, we tend to perceive minds in both living and non-living entities, such as robots. From a questionnaire developed in a previous mind perception study, authors found that perceived minds could be located on two dimensions "experience" and "agency." This questionnaire allowed the assessment of how we perceive minds of various entities from a multi-dimensional point of view. In this questionnaire, subjects had to evaluate explicit mental capacities of target characters (e.g., capacity to feel hunger). However, we sometimes perceive minds in non-living entities, even though we cannot attribute these evidently biological capacities to the entity. In this study, we performed a large-scale web survey to assess mind perception by using the semantic differential scale method. We revealed that two mind dimensions "emotion" and "intelligence," respectively, corresponded to the two mind dimensions (experience and agency) proposed in a previous mind perception study. We did this without having to ask about specific mental capacities. We believe that the semantic differential scale is a useful method to assess the dimensions of mind perception especially for non-living entities that are hard to be attributed to biological capacities.
Bäuerl, Christine; Collado, M Carmen; Zúñiga, Manuel; Blas, Enrique; Pérez Martínez, Gaspar
Epizootic Rabbit Enteropathy (ERE) is a severe disease of unknown aetiology that mainly affects post-weaning animals. Its incidence can be prevented by antibiotic treatment suggesting that bacterial elements are crucial for the development of the disease. Microbial dynamics and host responses during the disease were studied. Cecal microbiota was characterized in three rabbit groups (ERE-affected, healthy and healthy pretreated with antibiotics), followed by transcriptional analysis of cytokines and mucins in the cecal mucosa and vermix by q-rtPCR. In healthy animals, cecal microbiota with or without antibiotic pretreatment was very similar and dominated by Alistipes and Ruminococcus. Proportions of both genera decreased in ERE rabbits whereas Bacteroides, Akkermansia and Rikenella increased, as well as Clostridium, γ-Proteobacteria and other opportunistic and pathogenic species. The ERE group displayed remarkable dysbiosis and reduced taxonomic diversity. Transcription rate of mucins and inflammatory cytokines was very high in ERE rabbits, except IL-2, and its analysis revealed the existence of two clearly different gene expression patterns corresponding to Inflammatory and (mucin) Secretory Profiles. Furthermore, these profiles were associated to different bacterial species, suggesting that they may correspond to different stages of the disease. Other data obtained in this work reinforced the notion that ERE morbidity and mortality is possibly caused by an overgrowth of different pathogens in the gut of animals whose immune defence mechanisms seem not to be adequately responding.
Zúñiga, Manuel; Blas, Enrique; Pérez Martínez, Gaspar
Epizootic Rabbit Enteropathy (ERE) is a severe disease of unknown aetiology that mainly affects post-weaning animals. Its incidence can be prevented by antibiotic treatment suggesting that bacterial elements are crucial for the development of the disease. Microbial dynamics and host responses during the disease were studied. Cecal microbiota was characterized in three rabbit groups (ERE-affected, healthy and healthy pretreated with antibiotics), followed by transcriptional analysis of cytokines and mucins in the cecal mucosa and vermix by q-rtPCR. In healthy animals, cecal microbiota with or without antibiotic pretreatment was very similar and dominated by Alistipes and Ruminococcus. Proportions of both genera decreased in ERE rabbits whereas Bacteroides, Akkermansia and Rikenella increased, as well as Clostridium, γ-Proteobacteria and other opportunistic and pathogenic species. The ERE group displayed remarkable dysbiosis and reduced taxonomic diversity. Transcription rate of mucins and inflammatory cytokines was very high in ERE rabbits, except IL-2, and its analysis revealed the existence of two clearly different gene expression patterns corresponding to Inflammatory and (mucin) Secretory Profiles. Furthermore, these profiles were associated to different bacterial species, suggesting that they may correspond to different stages of the disease. Other data obtained in this work reinforced the notion that ERE morbidity and mortality is possibly caused by an overgrowth of different pathogens in the gut of animals whose immune defence mechanisms seem not to be adequately responding. PMID:25147938
Kougioumtzi, Anastasia; Tsaparas, Panayiotis; Magklara, Angeliki
Despite the pleiotropic effects of the progesterone receptor in breast cancer, the molecular mechanisms in play remain largely unknown. To gain a global view of the PR-orchestrated networks, we used next-generation sequencing to determine the progestin-regulated transcriptome in T47D breast cancer cells. We identify a large number of PR target genes involved in critical cellular programs, such as regulation of transcription, apoptosis, cell motion and angiogenesis. Integration of the transcriptomic data with the PR-binding profiling of hormonally treated cells identifies numerous components of the small-GTPases signaling pathways as direct PR targets. Progestin-induced deregulation of the small GTPases may contribute to the PR's role in mammary tumorigenesis. Transcript expression analysis reveals significant expression changes of specific transcript variants in response to the extracellular hormonal stimulus. Using the NET1 gene as an example, we show that the PR can dictate alternative promoter usage leading to the upregulation of an isoform that may play a role in metastatic breast cancer. Future studies should aim to characterize these selectively regulated variants and evaluate their clinical utility in prognosis and targeted therapy of hormonally responsive breast tumors. PMID:24897521
Riley, B E; Lougheed, J C; Callaway, K; Velasquez, M; Brecht, E; Nguyen, L; Shaler, T; Walker, D; Yang, Y; Regnstrom, K; Diep, L; Zhang, Z; Chiou, S; Bova, M; Artis, D R; Yao, N; Baker, J; Yednock, T; Johnston, J A
Parkin is a RING-between-RING E3 ligase that functions in the covalent attachment of ubiquitin to specific substrates, and mutations in Parkin are linked to Parkinson's disease, cancer and mycobacterial infection. The RING-between-RING family of E3 ligases are suggested to function with a canonical RING domain and a catalytic cysteine residue usually restricted to HECT E3 ligases, thus termed 'RING/HECT hybrid' enzymes. Here we present the 1.58 Å structure of Parkin-R0RBR, revealing the fold architecture for the four RING domains, and several unpredicted interfaces. Examination of the Parkin active site suggests a catalytic network consisting of C431 and H433. In cells, mutation of C431 eliminates Parkin-catalysed degradation of mitochondria, and capture of an ubiquitin oxyester confirms C431 as Parkin's cellular active site. Our data confirm that Parkin is a RING/HECT hybrid, and provide the first crystal structure of an RING-between-RING E3 ligase at atomic resolution, providing insight into this disease-related protein.
Aivazian, Grant; Sun, Dong; Jones, Aaron; Ross, Jason; Yao, Wang; Cobden, David; Xu, Xiaodong
The remarkable electrical and optical properties of graphene make it a promising material for new optoelectronic applications. However, one important, but so far unexplored, property is the role of hot carriers in charge and energy transport at graphene interfaces. Here we investigate the photocurrent (PC) dynamics at a tunable graphene pn junction using ultrafast scanning PC microscopy. Pump-probe measurements show a temperature dependent relaxation time of photogenerated carriers that increases from 1.5ps at 290K to 4ps at 20K; while the amplitude of the PC is independent of the lattice temperature. These observations imply that it is hot carriers, not phonons, which dominate ultrafast energy transport. Gate dependent measurements show many interesting features such as pump induced saturation, enhancement, and sign reversal of probe generated PC. These observations reveal that the underlying PC mechanism is a combination of the thermoelectric and built-in electric field effects. Our results enhance the understanding of non-equilibrium electron dynamics, electron-electron interactions, and electron-phonon interactions in graphene. They also determine fundamental limits on ultrafast device operation speeds (˜500 GHz) for graphene-based photodetectors.
Cetin, Mehmet; Uçar, Muharrem; Güven, Tolga; Ataç, Adnan; Ozer, Mustafa
This study aimed to examine the thoughts and expectations of patients receiving healthcare from their physicians and evaluate the ethical aspects of these thoughts and expectations. To determine the ethical aspects of the thoughts and expectations of patients, an open-ended question was asked on the web page of the Turkish Armed Forces (TAF) Health Care Command, which is accessible to the users of the TAF intranet system (the internet system used within TAF institutions). The participants were asked to express their thoughts in their own words. A total of 804 participants answered the question by providing their input. The statements of the participants were classified separately by two public health specialists. The classification was made in accordance with the basic principles of patient rights, and they were collected under various headings including expectations about respect and care, good communication, informed consent, and fair and non-privileged distribution of healthcare services. The results show that patients tend to consider the physicians they see as solely responsible for all the negative issues that they encounter during their healthcare. This indicates that there is a need for extensive research on the underlying factors involved in the negative thoughts and feelings toward healthcare professionals in both TAF and Turkey in general.
Abstract Emotionally‐laden tactile stimulation—such as a caress on the skin or the feel of velvet—may represent a functionally distinct domain of touch, underpinned by specific cortical pathways. In order to determine whether, and to what extent, cortical functional neuroanatomy supports a distinction between affective and discriminative touch, an activation likelihood estimate (ALE) meta‐analysis was performed. This meta‐analysis statistically mapped reported functional magnetic resonance imaging (fMRI) activations from 17 published affective touch studies in which tactile stimulation was associated with positive subjective evaluation (n = 291, 34 experimental contrasts). A separate ALE meta‐analysis mapped regions most likely to be activated by tactile stimulation during detection and discrimination tasks (n = 1,075, 91 experimental contrasts). These meta‐analyses revealed dissociable regions for affective and discriminative touch, with posterior insula (PI) more likely to be activated for affective touch, and primary somatosensory cortices (SI) more likely to be activated for discriminative touch. Secondary somatosensory cortex had a high likelihood of engagement by both affective and discriminative touch. Further, meta‐analytic connectivity (MCAM) analyses investigated network‐level co‐activation likelihoods independent of task or stimulus, across a range of domains and paradigms. Affective‐related PI and discriminative‐related SI regions co‐activated with different networks, implicated in dissociable functions, but sharing somatosensory co‐activations. Taken together, these meta‐analytic findings suggest that affective and discriminative touch are dissociable both on the regional and network levels. However, their degree of shared activation likelihood in somatosensory cortices indicates that this dissociation reflects functional biases within tactile processing networks, rather than functionally and anatomically distinct
Emotionally-laden tactile stimulation-such as a caress on the skin or the feel of velvet-may represent a functionally distinct domain of touch, underpinned by specific cortical pathways. In order to determine whether, and to what extent, cortical functional neuroanatomy supports a distinction between affective and discriminative touch, an activation likelihood estimate (ALE) meta-analysis was performed. This meta-analysis statistically mapped reported functional magnetic resonance imaging (fMRI) activations from 17 published affective touch studies in which tactile stimulation was associated with positive subjective evaluation (n = 291, 34 experimental contrasts). A separate ALE meta-analysis mapped regions most likely to be activated by tactile stimulation during detection and discrimination tasks (n = 1,075, 91 experimental contrasts). These meta-analyses revealed dissociable regions for affective and discriminative touch, with posterior insula (PI) more likely to be activated for affective touch, and primary somatosensory cortices (SI) more likely to be activated for discriminative touch. Secondary somatosensory cortex had a high likelihood of engagement by both affective and discriminative touch. Further, meta-analytic connectivity (MCAM) analyses investigated network-level co-activation likelihoods independent of task or stimulus, across a range of domains and paradigms. Affective-related PI and discriminative-related SI regions co-activated with different networks, implicated in dissociable functions, but sharing somatosensory co-activations. Taken together, these meta-analytic findings suggest that affective and discriminative touch are dissociable both on the regional and network levels. However, their degree of shared activation likelihood in somatosensory cortices indicates that this dissociation reflects functional biases within tactile processing networks, rather than functionally and anatomically distinct pathways. © 2016 The Authors Human
Hargrave, R.; Stoeklin, M.; Haan, M.; Reed, B.
This article examines the association between ethnicity and psychiatric symptoms in patients with Alzheimer's disease. Data from a cross-sectional study of patients evaluated at nine California Department of Health Alzheimer's Disease Diagnostic and Treatment Centers (ADDTCs) were used. Using the ADDTC patient database, sociodemographic and clinical variables in 207 black patients and 1818 white patients with probable and possible Alzheimer's disease were compared. Logistic and linear regression analysis indicated the following results: 1) black patients had fewer years of education and more often had hypertension, 2) black patients reported shorter duration of illness at the time of initial diagnosis of dementia, 3) black patients had lower Mini-Mental State Examination scores and higher Blessed Roth Dementia Rating Scale scores at the time of initial diagnosis, and 4) black patients more frequently reported insomnia and less frequently reported anxiety. Additional studies are needed to validate these findings and to generate hypotheses about the role of cardiovascular disease and pathophysiology of psychiatric symptoms in ethnic populations with Alzheimer's disease. PMID:9510621
Castillo, R; Delgado, J; Quiralte, J; Blanco, C; Carrillo, T
Food hypersensitivity (FH) is lesser frequent among adult patients than in childhood. Foods implicated in hypersensitivity reactions vary with sociocultural and diet habits from a geographic place to other. We studied 142 adult patients sensitized to foods, among 7698 patients visited at our Outpatient Clinic. Hundred and twenty patients referred clinical symptoms after consumption of one or more foods consistently. From the latest, 107 patients (89.2%) were atopics (92 of them sensitizes to dust mites) and 54 (45%) referred atopic familiar background. Most frequent recorded symptoms were: urticaria/angioedema 84 cases (70%), oral syndrome 65 (54%), asthma 48 (37%) and anaphylaxis 33 patients (27.5%). Shellfish sensitization occurred in 50 patients, fresh fruits in 33 and nuts in 29 cases. Shrimp (48 patients), squid (33), kiwi (14), papaya (14), avocado (13) and banana (12 cases) were the most frequent causes of FH. Significant statistical association between foods and inhalants was observed for fresh fruits and latex (p < 0.001), fresh fruits and pollens (p < 0.01), and shellfish and Blatta germanica (p < 0.001). Prevalence of FH among patients at our Area is around 1.6%. Tropical fruits, as other kind of fruits, seem to share common IgE-epitopes to pollens. High prevalence of shellfish and cockroach hypersensitivity could be more easily developed by previous domestic mites sensitization.
Williams, Carolyn L.; Kendall, Philip C.
Summarizes many of the issues relevant to patient education programs concerning psychological preparation for stressful medical procedures. Individual differences among patients and their differential responses to types of intervention are emphasized, and descriptions of information provision, skills training, relaxation training/desensitization,…
Haluza, Daniela; Jungwirth, David
The current digital revolution is particularly relevant for interactions of healthcare providers with patients and the community as a whole. The growing public acceptance and distribution of new communication tools such as smart mobile phones provide the prerequisite for information and communication technology (ICT) -assisted healthcare applications. The present study aimed at identifying specifications and perceptions of different interest groups regarding future demands of ICT-supported doctor-patient communication in Austria. German-speaking Austrian healthcare experts (n = 73; 74 percent males; mean age, 43.9 years; SD 9.4) representing medical professionals, patient advocates, and administrative personnel participated in a 2-round online Delphi process. Participants evaluated scenario-based benefits and obstacles for possible prospect introduction as well as degree of innovation, desirability, and estimated implementation dates of two medical care-related future set ups. Panelists expected the future ICT-supported doctor-patient dialogue to especially improve the three factors doctors-patient relationship, patients' knowledge, and quality of social health care. However, lack of acceptance by doctors, data security, and monetary aspects were considered as the three most relevant barriers for ICT implementation. Furthermore, inter-group comparison regarding desirability of future scenarios showed that medical professionals tended to be more skeptical about health-related technological innovations (p < .001). The findings of this survey revealed different expectations among interest groups. Thus, we suggest building taskforces and using workshops for establishing a dialogue between stakeholders to positively shape the future of ICT-supported collaboration and communication between doctors and patients.
Ozer, Serdar; Ozer, Pinar A.
AIM To compare the success and complication rates, duration of surgeries and clinical comfort after endoscopic dacryocystorhinostomy (END-DCR) or external dacryocystorhinostomy (EXT-DCR). METHODS Fifty patients who underwent EXT- or END-DCR between January 2010-2012 were involved in the study. A questionnaire was applied to patients preoperatively, and postoperatively. Subjective success was defined by absence of epiphora, objective success by a normal nasolacrimal lavage and a positive functional endoscopic dye test (FEDT). Postoperative pain and cosmetic result of surgery were interpreted by the patients, who were also asked whether they would offer this surgery to a friend or would prefer this surgery once more if necessary. RESULTS Twenty-five patients underwent END-DCR and 25 underwent EXT-DCR. Mean duration of surgeries were 35min both for EXT-DCR (30-50) and END-DCR (35-50) (P=0.778). Intraoperative bleeding were documented in 48% of EXT-DCR and 4% of END-DCR cases (P<0.001). In total 96% of EXT-DCR and 100% of END-DCR patients had subjective success. Objective success was 100% in each group. There was no significant difference between the epiphora scorings and FDDT results in postoperative visits among the groups. END-DCR group reported less pain in first week and month (P<0.05, P<0.05). More patients in END-DCR group were happy with the cosmetic result in first week and month (P<0.001, P<0.001). More patients in END-DCR group offered this surgery to a friend (P<0.001). All patients in END-DCR group preferred this surgery once more if necessary, only 48% in EXT-DCR preferred the same method (P<0.001). CONCLUSION Although both END- and EXT-DCRs provide satisfactory outcomes with similar objective and subjective success rates, we demonstrated that the endonasal approach caused significantly less pain in early postoperative period than the external approach. Clinical comfort defined by the patients was quite higher in END-DCR group, in which patients mainly
Pestel, G; Closhen, D; Zimmermann, A; Werner, C; Weber, M M
Diabetes is a common disease in Germany. Due to diabetes-associated end-organ disease, such as large and small vessel disease and neuropathy, diabetic patients require more intense anesthesia care during the perioperative phase. An in-depth and comprehensive medical history focusing on hemodynamic alterations, gastroparesis, neuropathy and stiff joint syndrome is a cornerstone of perioperative care and may affect outcome of diabetes patients more than specific anesthetic medications or the anesthetic procedure. Intraoperative anesthetic care needs to focus on preservation of hemodynamic stability, perioperative infection control and maintenance of glucose homeostasis. Whereas some years ago strict glucose control by aggressive insulin therapy was adamantly advocated, the results of recent studies have put the risk of such therapeutic algorithms into perspective. Therefore, optimized perioperative care of diabetic patients consists of setting a predefined targeted blood glucose level, evidence-based therapeutic approaches to reach that goal and finally adequate and continuous monitoring and amendment of the therapeutic approach if required.
Cappell, Mitchell S
This article examines distinctive aspects of medical care experienced by a 55-year-old hospitalized for quintuple coronary artery bypass surgery who was also a senior physician-administrator (chief of gastroenterology) at the same hospital. The article describes eight distinctive aspects of administrator-physicians as patients, including special patient treatment; exalted patient expectations by hospital personnel; patient suppression of emotions; patient denial; self-doctoring; job stress contributing to disease; self-sacrifice to achieve better health; and rational medical decisions when not under stress. Health-care workers should recognize how these distinctive aspects of medical care and behavior affect administrator-physicians as patients, in order to mitigate their negative effects, potentiate their positive effects, and optimize the care of these patients.
Corlan Puşcu, Dorina; Ciuluvică, Radu Constantin; Anghel, Andreea; Mălăescu, Gheorghe Dan; Ciursaş, Adina Nicoleta; Popa, Gabriel Valeriu; Agop Forna, Doriana; Busuioc, Cristina Jana; Siloşi, Izabela
Periodontal disease is one of the most frequent diseases affecting people all over the world. The relation between periodontal disease and diabetes mellitus raised the interest both of dentists and doctors treating metabolic diseases, as the two conditions influence one another. In our study, we analyzed a number of 75 patients with diabetes mellitus and periodontal disease that presented to the medical consultory for conditions of the dental maxillary system. The clinical study showed that periodontal disease and diabetes may affect young adults as well, still this pathological association more frequently appears after the age of 50. The disease was identified especially in the women living in urban area. The clinical examination of the dental maxillary system identified the presence of gingival ulcerations, dental calculus, gingival bleeding, radicular leftovers with anfractuous margins, fixed prostheses with an inappropriate cervical adjustment. Of the systemic diseases associated to periodontal disease and diabetes mellitus, there was observed that 66.66% of the patients also suffered from cardiovascular diseases (high blood pressure, ischemic cardiopathy, heart failure), and 37.33% suffered from obesity. The histopathological and immunohistochemical tests highlighted the presence of an inflammatory chronic, intense reaction, mainly formed of lymphocytes, plasmocytes, macrophages and granulocytes, heterogeneously disseminated and alteration of the structure of marginal and superficial periodontium. The inflammatory reaction in the patients with periodontal disease and diabetes was more intense than in the patients with periodontal disease without diabetes.
Pittrow, David; Gaese, Franziska; Colla, Michael; Huss, Michael; Kretschmar, Christoph; Brinkman, Marc; Peters, Helmut; Elstner, Samuel; Weirich, Steffen; Häßler, Frank
The goal of the study was to describe the burden of psychosocial risks, of mental illnesses and the ways of treatment of patients with fragile X syndrome (FRX). Data from a sample of 46 FRX-patients stemming from a prospective multicenter (N = 12) registry study (EXPLAIN) were analyzed with regard to psychosocial burden and treatment. More than 50 % of all participants reported about relatives suffering from FRX, too. The majority of participants did not finish school and was suffering from one or another kind of mental problems. Younger participants (< 18 yrs.) tended to suffer from expansive disorders. Older participants were rather burdened by internalizing symptoms and disorders. Disorders were usually treated by psychotropic drugs added by logopedic therapies and occupational therapies (more than once a month). In our sample 90.6 % of younger and more than 64.3 % of older patients were still living with their parents. Patients with FRX often suffer from additional mental disorders and should be diagnosed and treated early. © Georg Thieme Verlag KG Stuttgart · New York.
Blitzer, A.; Baredes, S.; Kutscher, A.; Seeland, I.B.; Barrett, V.W.; Mossman, K.L.
This book contains 42 chapters divided among six sections. Some of the chapter titles are: The Challenge of Cancer; Communicaton Needs of Head and Neck Cancer Patients; Normal Tissue Effects of the Radiotherapy of Head and Neck Cancer; Chemotherapy in the Treatment of Head and Neck Cancer; and Thyroid Cancer.
Murariu-Brujbu, Isabella Cristina; Macovei, Luana Andreea
Family medicine is the specialty that provides ongoing primary medical care and improves the health status of the individual, of the family and of the community through preventive, educational, therapeutic and rehabilitation measures. The family doctor often makes the interdisciplinary synthesis, in a flexible manner, either alone or in most cases with interdisciplinary consultation. In the latter case, the family doctor initiates the team work and makes the final evaluation by using the longitudinal follow-up of the disease. The doctor-patient encounter represents the "confrontation" with the greatest moral weight, due to the complexity of the values involved, the status of the doctor in a society, and patient's involvement in decision making. The patient is a person who should be treated with respect, honesty, professionalism and loyalty, whatever the clinical status, severity of illness, mental competence or incompetence. A focus, on an international scale, is represented by the characteristics of a good doctor, family physician included, as the latter is the first link in the network of health services. Each model of consultation varies in a more or less subtle way in priorities assignment, and suggests slight differences regarding the role played by doctor and patient in their collaboration. The qualities of a good family physician include not only the strictly professional competences, that also apply to other medical specialties, but also duties, such as, clearly explaining to patients issues concerning their health, informing them about all the possible preventive measures of diseases, making a diagnosis, initiating and supervising a therapy. Medical responsibility lies at the crossroads between medical science and the conscience of the doctor.
Kuthning, Maria; Hundt, Ferdinand
Scope: To discuss the rationale behind informed consent in clinical trials focusing on vulnerable patients from a European and German viewpoint. Methods: Scientific literature search via PubMed, Medline, Google. Results: Voluntary informed consent is the cornerstone of policies regulating clinical trials. To enroll a patient into a clinical trial without having obtained written and signed consent is to be considered as a serious issue in the conduct of a clinical trial. Development of ethical guidance for physicians started before Christ Era with the Hippocratic Oath. Main function of consent, as articulated in all guidelines developed for clinical research, is to facilitate an individual’s freedom of choice, respect autonomy, and thus to ensure welfare of the participants in clinical trials. Minors are unable to provide legally binding informed consent, this issue is addressed through a combination of parental permission and minor’s assent. Illiteracy is a critical problem that affects all corners of our earth; it has no boundaries and exists among every race and ethnicity, age group, and economic class. New strategies to improve communication with patients including the use of videotapes or animated cartoon illustrations could be taught. Finally the time with the potential participant seems to be the best way to improve understanding. Conclusion: Discovery of life saving and life enhancing new treatments requires partnership that is based on good communication and trust between patients and researchers, sponsors, ethics committees, authorities, lawyers and politicians so that vulnerable patients can benefit from the results of well controlled clinical trials. PMID:23346043
Pemán Garcia, J
Fungemia, generally causes by Candida spp., is the most frequent deep mycoses in the critical patient and is many times clinically undistinguishable from bacterial septicemia. Less frequently, respiratory or disseminated mycosis produced by Aspergillus or other filamentous fungi, such as Scedosporium, Fusarium, Pneumocystis, Acremonium or zygomycetes have been described. Currently, invasive candidiasis is the fourth cause of nosocomial infection in Europe and the USA. Furthermore, in the SCOPE study, Candida is the third microorganism isolated from the blood culture in the ICU and the mortality that can be attributed to it reaches 25 %-38 %. Currently, the incidence of candidemia has been estimated to be 2 cases per every 1,000 admissions in the mixed critical units and 9.9 cases in the critical surgical units. On its part, invasive aspergillosis is observed in 1.25 % of the patients admitted to the ICU and mostly affects patients with chronic bronchopathy treated with glucocorticoids. It is considered as an indicator of bad prognosis and is associated to very high mortality rates (40 %-100 %).
Mediati, Rocco Domenico; Vellucci, Renato; Dodaro, Lucia
Summary Bone pain is one of the most frequent kinds of chronic pain, mainly in elderly patients. It causes a significant worsening of functional capacity and deterioration in the quality of life in people affected. Mechanisms of pain in osteoporosis are poorly known and often extrapolated by other pathologies or other experimental model. One of principal causes would be a “hyper-remodeling” of bone, that involves osteoclasts activity and pathological modifications of bone innervation. Several studies show that osteoclasts play a significant role in bone pain etiology. Pain in osteoporosis is mainly nociceptive, if it become persistent a sensitization of peripheral and central nervous system can occur, so underlining the transition to a chronic pain syndrome. Central sensitization mechanisms are complex and involve several neuromediators and receptors (Substance P, NMDA, etc.). Most common manifestations of osteoporosis are vertebral compression fractures that cause persistent pain, though to differentiate from pain originating in structures as joint or muscle. First manifestation can be an acute pain due to pathological fracture, those of hip often causes disability. Pain in osteoporosis is an important clinical challenge. Often its complications and consequences on patient quality of life are underestimated with not negligible social implications. A balanced and early multimodal pain therapy including opioids as necessary, even in cases of acute pain, improve the functional capacity of patients and helps to prevent neurological alterations that seems to contribute in significant way in causing irreversible pain chronic syndromes. PMID:25568647
Noer, Christina Lehmkuhl; Needham, Esther Kjær; Wiese, Ann-Sophie; Balsby, Thorsten Johannes Skovbjerg; Dabelsteen, Torben
Animal personality research is receiving increasing interest from related fields, such as evolutionary personality psychology. By merging the conceptual understanding of personality, the contributions to both fields of research may be enhanced. In this study, we investigate animal personality based on the definition of personality traits as underlying dispositional factors, which are not directly measurable, but which predispose individuals to react through different behavioural patterns. We investigated the shyness-boldness continuum reflected in the consistency of inter-individual variation in behavioural responses towards novelty in 47 farmed American mink (Neovison vison), which were raised in identical housing conditions. Different stages of approach behaviour towards novelty, and how these related within and across contexts, were explored. Our experimental design contained four tests: two novel object tests (non-social contexts) and two novel animated stimuli tests (social contexts). Our results showed consistency in shyness measures across multiple tests, indicating the existence of personality in farmed American mink. It was found that consistency in shyness measures differs across non-social and social contexts, as well as across the various stages in the approach towards novel objects, revealing that different aspects of shyness exist in the farmed American mink. To our knowledge this is the first study to reveal aspects of the shyness-boldness continuum in the American mink. Since the mink were raised in identical housing conditions, inherited factors may have been important in shaping the consistent inter-individual variation. Body weight and sex had no effect on the personality of the mink. Altogether, our results suggest that the shyness-boldness continuum cannot be explained by a simple underlying dispositional factor, but instead encompasses a broader term of hesitating behaviour that might comprise several different personality traits. PMID
Noer, Christina Lehmkuhl; Needham, Esther Kjær; Wiese, Ann-Sophie; Balsby, Thorsten Johannes Skovbjerg; Dabelsteen, Torben
Animal personality research is receiving increasing interest from related fields, such as evolutionary personality psychology. By merging the conceptual understanding of personality, the contributions to both fields of research may be enhanced. In this study, we investigate animal personality based on the definition of personality traits as underlying dispositional factors, which are not directly measurable, but which predispose individuals to react through different behavioural patterns. We investigated the shyness-boldness continuum reflected in the consistency of inter-individual variation in behavioural responses towards novelty in 47 farmed American mink (Neovison vison), which were raised in identical housing conditions. Different stages of approach behaviour towards novelty, and how these related within and across contexts, were explored. Our experimental design contained four tests: two novel object tests (non-social contexts) and two novel animated stimuli tests (social contexts). Our results showed consistency in shyness measures across multiple tests, indicating the existence of personality in farmed American mink. It was found that consistency in shyness measures differs across non-social and social contexts, as well as across the various stages in the approach towards novel objects, revealing that different aspects of shyness exist in the farmed American mink. To our knowledge this is the first study to reveal aspects of the shyness-boldness continuum in the American mink. Since the mink were raised in identical housing conditions, inherited factors may have been important in shaping the consistent inter-individual variation. Body weight and sex had no effect on the personality of the mink. Altogether, our results suggest that the shyness-boldness continuum cannot be explained by a simple underlying dispositional factor, but instead encompasses a broader term of hesitating behaviour that might comprise several different personality traits.
Camacho, Ricardo Jorge
HIV-2 is responsible for a limited epidemic in West Africa. Around 20% of all infected patients will progress to AIDS, and will need antiretroviral therapy. Unfortunately, antiretrovirals were developed to suppress HIV-1 replication; not all of them are active against HIV-2, e.g. all nonnucleoside reverse transcriptase inhibitors or fusion inhibitors. Moreover, only three protease inhibitors have the same activity in HIV-1 and HIV-2: lopinavir, saquinavir and darunavir. Even if all nucleoside and nucleotide reverse transcriptase inhibitors appear to be equally efficient against HIV-2, different resistance pathways and an increased facility of resistance selection make their use much more difficult than in HIV-1. Integrase inhibitors have a potent inhibitory effect on HIV-2 replication, but questions about the best timing for their use remain unanswered, as well as those regarding the use of entry inhibitors in this setting. The lack of reliable monitoring tools adds to the difficulty of treating HIV-2-infected patients, mostly because the viral load is not as useful as it is in HIV-1, and the incomplete knowledge about resistance pathways limits the clinical usefulness of resistance testing. With all these limitations, HIV-2 treatment remains a challenge. Further research is urgently needed, since antiretroviral therapy is now becoming available in countries where the HIV-2 prevalence is significant. The need for appropriate guidelines for HIV-2 treatment has become an emergency.
Deprest, J.; Toelen, J.; Debyser, Z.; Rodrigues, C.; Devlieger, R.; De Catte, L.; Lewi, L.; Van Mieghem, T.; Naulaers, G.; Vandevelde, M.; Claus, F.; Dierickx, K.
The pregnant patient is a vulnerable subject, and even more so when a serious fetal condition is diagnosed. (Invasive) fetal therapy should only be offered when there is a good chance that the life of the fetus will be saved, or irreversible damage by the disease or disability is prevented. Following diagnosis of a potentially treatable condition, the patient needs to be referred to a center with sufficient expertise in diagnosis and all therapeutic options. Preferences of the physician towards one or another antenatal intervention is not at stake prior to that moment. When fetal therapy is justified, it should be offered with full respect for maternal choice and individual assessment and perception of potential risks, and should be at the location where there is sufficient expertise. For therapies of unproven benefit, the absence of evidence must be disclosed, and therapy should only be undertaken with full voluntary consent of the mother. These ought to be undertaken within well designed and approved trials and only by experts in the treatment modality. Potential risks and eventual morbidities in case of therapeutic failure should be part of the counselling, neither should fetal therapy be presented as an alternative to termination of pregnancy PMID:24753868
Rachadi, H; Senouci, K; Lyagoubi, M; Benzekri, A; Mansouri, S; Ramli, I; Ismaili, N; Hassam, B; Benzekri, L
Cryptococcosis is a potentially severe infection that usually occurs in a setting of immunosuppression. Its occurrence outside of this context is rare. We report a case of disseminated cryptococcosis revealed by a spectacular skin disease in an immunocompetent patient. A 40-year-old male patient had been presenting multiple nodules and tumors on his face for one month in a context of asthenia and intermittent fever. Histological examination of a skin biopsy revealed encapsulated yeasts strongly suggestive of Cryptococcus neoformans. Mycological examination of the skin biopsy and cerebrospinal fluid isolated Cryptococcus gattii. The blood cultures were positive. Brain MRI demonstrated cryptococcal parenchymal involvement. Screening for primary or secondary immunodeficiency was negative. The patient received amphotericin B 1mg/kg/day and fluconazole 600mg/day but died 2months after diagnosis. Cryptococcosis is a potentially severe infection caused by C. neoformans. This rare condition occurs most commonly in patients with profound deficiency in terms of cellular immunity. Although rare, the occurrence of cryptococcosis in immunocompetent patients is possible, and in this event the signs are highly polymorphic, which usually makes it very difficult to diagnose. The diagnosis of cryptococcosis is based on the identification by direct examination and after staining with India ink of encapsulated yeasts of the Cryptococcus genus. Culture on Sabouraud medium is essential for identification of the species. Treatment for disseminated cryptococcosis involves amphotericin B, often associated with flucytosine IV. In the event of meningitis infection in non-HIV patients, mortality continues to be around 15%, despite adequate medical treatment. Although rare, cryptococcosis can occur in immunocompetent subjects. The prognosis is severe even after treatment. Copyright © 2016. Published by Elsevier Masson SAS.
Cruz, Aline Nunes da; Beber, Bárbara Costa; Olchik, Maira Rozenfeld; Chaves, Márcia Lorena Fagundes; Rieder, Carlos Roberto de Mello; Dornelles, Sílvia
Deep Brain Stimulation (DBS) has been satisfactorily used to control the cardinal motor symptoms of Parkinson's disease (PD), but little is known about its impact on communication. This study aimed to characterize the aspects of cognition, language, speech, voice, and self-perception in two patients with PD, pre- and post- DBS implant surgery. The patients were assessed using a cognitive screening test, a brief language evaluation, a self-declared protocol, and an analysis of the aspects of voice and speech, which was conducted by a specialized Speech-language Therapist who was blinded for the study. At the pre-surgery assessment, Case I showed impairment regarding the aspects of cognition, language and voice, whereas Case II showed impairment only with respect to the voice aspect. The post-surgery evaluation of the cases showed an opposite pattern of the effect of DBS after analysis of the communication data: Case I, who presented greater impairment before the surgery, showed improvement in some aspects; Case II, who presented lower communicative impairment before the surgery, showed worsening in other aspects. This study shows that DBS may influence different communication aspects both positively and negatively. Factors associated with the different effects caused by DBS on the communication of patients with PD need to be further investigated.
Amitrano, Sara; Marozza, Annabella; Somma, Serena; Imperatore, Valentina; Hadjistilianou, Theodora; De Francesco, Sonia; Toti, Paolo; Galimberti, Daniela; Meloni, Ilaria; Cetta, Francesco; Piu, Pietro; Di Marco, Chiara; Dosa, Laura; Lo Rizzo, Caterina; Carignani, Giulia; Mencarelli, Maria Antonietta; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca
In about 50% of sporadic cases of retinoblastoma, no constitutive RB1 mutations are detected by conventional methods. However, recent research suggests that, at least in some of these cases, there is somatic mosaicism with respect to RB1 normal and mutant alleles. The increased availability of next generation sequencing improves our ability to detect the exact percentage of patients with mosaicism. Using this technology, we re-tested a series of 40 patients with sporadic retinoblastoma: 10 of them had been previously classified as constitutional heterozygotes, whereas in 30 no RB1 mutations had been found in lymphocytes. In 3 of these 30 patients, we have now identified low-level mosaic variants, varying in frequency between 8 and 24%. In 7 out of the 10 cases previously classified as heterozygous from testing blood cells, we were able to test additional tissues (ocular tissues, urine and/or oral mucosa): in three of them, next generation sequencing has revealed mosaicism. Present results thus confirm that a significant fraction (6/40; 15%) of sporadic retinoblastoma cases are due to postzygotic events and that deep sequencing is an efficient method to unambiguously distinguish mosaics. Re-testing of retinoblastoma patients through next generation sequencing can thus provide new information that may have important implications with respect to genetic counseling and family care.
Huisa, Branko N; Raman, Rema; Ernstrom, Karin; Tafreshi, Gilda; Stemer, Andrew; Meyer, Brett C; Hemmen, Thomas
One-quarter of ischemic strokes occur during sleep, and affected patients are excluded from thrombolytic therapy because of an unknown time of stroke onset. It has been suggested that early ischemic changes detected on computed tomography (CT) are similar in patients with acute stroke and patients who recently awoke with stroke. We compared head CT scans using the Alberta Stroke Program Early CT Score (ASPECTS) in patients who were likely to suffer their stroke during sleep (awoke group) and a control group of patients with stroke of known onset time. Patients were recruited from a prospectively collected acute stroke database. The awoke group was defined as all ischemic stroke patients who were "last seen normal" more than 4 hours ago, arrived between 4 a.m. and 10 a.m., and underwent head CT within 15 hours of the time last seen normal. The control group was randomly selected from patients who underwent head CT within 4 hours of stroke onset. The ASPECTS evaluations were performed by investigators blinded to patient group and time of onset. A modified Rankin Scale (mRS) score was available in 15 awoke patients and 46 control patients at 90 days after stroke. Twenty-eight awoke patients and 68 control patients had suitable imaging for the ASPECTS. Baseline demographic characteristics and risk factors were similar in the 2 groups. The dichotomized ASPECTS analysis (≤7 vs 8-10) showed no significant differences between the groups. ASPECTS was 8-10 in 89.3% the awoke group and 95.6% in the control group (P=.353). There was a trend toward higher 90-day mRS score (0-1) in the awoke group versus controls (73% vs 45%; P=.079). Initial ASPECTS was similar in patients with wake-up stroke and those with 4 hours of symptoms. This suggests that a subset of wake-up stroke patients might be suitable for thrombolytic therapy. Copyright © 2010 National Stroke Association. Published by Elsevier Inc. All rights reserved.
Miller, Edward Alan
The influence of telemedicine on the nature and content of doctor-patient communication stems from both its technical and its interpersonal aspects. While the technical aspects are concerned with the communication technologies used and the clinical processes enabled by those technologies, the interpersonal aspects are concerned with relationships between system personnel, providers and patients, and the way in which those relationships are organized. On the one hand, this paper posits that the influence of the technical environment stems from depersonalization of the doctor-patient relationship, participatory enhancements and impediments, and sensory and non-verbal limitations. On the other hand, it posits that the influence of the interpersonal environment stems from third-party participation, social and professional distancing, and underdeveloped norms and standards. A combined positivist and interpretivist evaluation strategy would enable researchers to make better-informed connections between telemedicine, medical encounter behaviour and health outcomes.
Lutz, Ulrich C
Addiction research focusing on homocysteine metabolism and its association with aspects of alcohol dependence has revealed important findings. Recent literature on this topic has been taken into account for the review provided. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the homocysteine metabolism. Plasma homocysteine levels are influenced by the single-nucleotide polymorphism (SNP) MTHFR C677T. Besides genetic factors, environmental factors have an impact on homocysteine plasma levels too. Thus, chronic alcohol intake is associated with elevated homocysteine plasma concentrations. Elevation of plasma homocysteine concentration is considered as a predictor for the occurrence of alcohol withdrawal seizures and--as homocysteine is a cardiovascular risk factor--might contribute to the higher risk for myocardial infarction among alcohol dependent patients. Homocysteine acts as an N-methyl-D-aspartate (NMDA) receptor agonist and has excitotoxic effects. Furthermore, it has been demonstrated that homocysteine has neurotoxic effects especially on dopaminergic neurons. As the rewarding effects of alcohol are mediated by the dopaminergic system, a homocysteine-dependent impairment of the reward system possibly leads to an altered drinking behaviour according to the deficit hypothesis of addiction. Homocysteine is involved in the metabolism of methyl groups and DNA-methylation plays a role in regulation of gene expression. Therefore it has been suggested that homocysteine is an important epigenetic factor. It remains to be determined whether alcohol dependent patients benefit from homocysteine lowering strategies, e.g., via supplementation of folate, vitamin B6 and B12. In this respect it is not clear yet, if a supplementation therapy can reduce the risk for the occurrence of alcohol withdrawal seizures.
González-Ballester, David; Casero, David; Cokus, Shawn; Pellegrini, Matteo; Merchant, Sabeeha S.; Grossman, Arthur R.
The Chlamydomonas reinhardtii transcriptome was characterized from nutrient-replete and sulfur-depleted wild-type and snrk2.1 mutant cells. This mutant is null for the regulatory Ser-Thr kinase SNRK2.1, which is required for acclimation of the alga to sulfur deprivation. The transcriptome analyses used microarray hybridization and RNA-seq technology. Quantitative RT-PCR evaluation of the results obtained by these techniques showed that RNA-seq reports a larger dynamic range of expression levels than do microarray hybridizations. Transcripts responsive to sulfur deprivation included those encoding proteins involved in sulfur acquisition and assimilation, synthesis of sulfur-containing metabolites, Cys degradation, and sulfur recycling. Furthermore, we noted potential modifications of cellular structures during sulfur deprivation, including the cell wall and complexes associated with the photosynthetic apparatus. Moreover, the data suggest that sulfur-deprived cells accumulate proteins with fewer sulfur-containing amino acids. Most of the sulfur deprivation responses are controlled by the SNRK2.1 protein kinase. The snrk2.1 mutant exhibits a set of unique responses during both sulfur-replete and sulfur-depleted conditions that are not observed in wild-type cells; the inability of this mutant to acclimate to S deprivation probably leads to elevated levels of singlet oxygen and severe oxidative stress, which ultimately causes cell death. The transcriptome results for wild-type and mutant cells strongly suggest the occurrence of massive changes in cellular physiology and metabolism as cells become depleted for sulfur and reveal aspects of acclimation that are likely critical for cell survival. PMID:20587772
de Barros, Rubens Tofano; de Carvalho, Sebastião Marcos Ribeiro; Silva, Marcos Augusto de Moraes; Borges, Juliana Bassalobre Carvalho
Objective To evaluate patients' quality of life aspects after pacemaker implantation, relating it to gender, age, and implantation timespan. Methods A total of 107 clinically stable patients of both genders (49.5% women and 50.5% men) over 18 years old (average 69.3±12.6 years) and presenting an implantation timespan of three to 12 months (average 6.36Â±2.99 months) were evaluated. The evaluation included personal, clinical, and implant data as well as quality of life questionnaires (AQUAREL and SF-36). Statistical analysis was conducted using the t test and Pearson correlation, with a 5% significance level. Results The lowest SF-36 score referred to physical aspects, and the highest score referred to social aspects. In AQUAREL, the lowest score referred to dyspnea, and the highest referred to discomfort. There was a significant association between gender and quality of life in SF-36 (physical functioning and emotional aspects) and in AQUAREL (dyspnea). A negative correlation was observed between age and quality of life (functional capacity in SF-36, and discomfort in AQUAREL) in relation to implantation timespan, a correlation with vitality from SF-36. Conclusion Lower quality of life scores were found in physical aspects and dyspnea; and higher scores in social aspects and discomfort. Men presented higher quality of life scores related to physical functioning, emotional aspects and dyspnea. As age increases, quality of life worsens regarding functional capacity and discomfort; and the longer the pacemaker implantation timespan, the worse quality of life when it comes to vitality. Gender, age, and implantation timespan influence quality of life; thus, these variables must be considered in strategies for improving quality of life of patients with pacemakers. PMID:24896161
Oliveira, Eloíde André; Garcia, Telma Ribeiro; de Sá, Lenilde Duarte
Descriptive survey aimed at identifying which aspects of body hygiene are valued by a nursing staff both in regard to personal body hygiene and to patients body hygiene. This survey has been conducted inside eight public health institutions, and the sample consisted of 126 nursing professionals, corresponding to 12.8% of a total of 986 people of the nursing personnel in such institutions. When considering personal body hygiene, the number of nail and hair care related quotes was higher than the number of answers concerning basic aspects such as hands hygiene, and this fact has called our attention. In patients body hygiene, a shower was the highest regarded aspect by the nursing staff; oral hygiene by registered nurses and nursing aids; and nail care by registered nurses and nursing technicians.
Felipe, Gilvan Ferreira; de Abreu, Rita Neuma Dantas Cavalcante; Moreira, Thereza Maria Magalhães
The objective was to observe the aspects of nursing appointments undergone by hypertensive patients. This is a descriptive study, developed in three healthcare centers in the city of Fortaleza. The subjects were 13 nurses, and data collection comprised the observation of three of each nurse's appointments, followed by an interview with this professional. It was observed that, during the anamnesis, the previous treatment, the ingestion of hypertensive substances and the existence of associated risk factors were identified. Inspections of the patient's appearance, blood pressure and weight were also evident. The identified categories were: aspects of the nurse's role in basic healthtcare; treatment of hypertension and day-to-day difficulties of people with this disease. We conclude that many aspects are not being approached during the nursing appointments, which can result in a low-quality healthcare service provided for people cared for the hypertension program in these basic healthcare centers.
Cooper, Jan; Barnett, Mandy
To examine what aspects of caring for dying patients cause anxiety in student nurses during their first year of training. Qualitative descriptive study. A university in the UK delivering preregistration nurse education. A purposive sample of 38 student nurses who had just completed their first year of their programme consented to participate in the study. Data triangulation was employed, with data collected from students' reflective diaries and two focus group meetings. Eight themes emerged relating to students' anxiety about caring for dying patients: coping with the physical suffering of patients: what to do or say; the severing of the relationship with the patient; the type of death; cardiopulmonary resuscitation; last offices; coping mechanisms; and interventions that would improve the student experience. Findings from the study suggest that it is aspects of the caring role, rather than personal fear of death, that form the source of much of students' anxiety.
Hill, MD; Demchuk, AM; Goyal, M; Jovin, TG; Foster, LD; Tomsick, TA; von Kummer, R; Yeatts, SD; Palesch, YY; Broderick, JP
Background and Purpose The IMS-III trial randomized acute ischemic stroke patients to IV tPA plus endovascular therapy versus IV tPA therapy alone within 3 hours from symptom onset. A pre-defined secondary hypothesis was that subjects with significant early ischemic change on the baseline scan would not respond to endovascular therapy. Methods The primary outcome was 90-day mRS 0–2. The baseline and follow-up CT scan images were reviewed centrally, blinded to any clinical information. We assessed whether the baseline ASPECTS score predicted outcome, and interacted with study treatment. We analyzed subgroups defined by time from onset to IV tPA initiation and baseline occlusion status at a pre-specified alpha = 0.01. Results Baseline demographic and clinical characteristics of 656 randomized patients were similar between subjects with a baseline ASPECTS score 8–10 (58% of the study sample) vs 0–7. Subjects with ASPECTS 8–10 were almost twice as likely [RR 1.8 CI99 1.4–2.4] to achieve a favorable outcome. There was insufficient evidence of a treatment-by-ASPECTS interaction. In those treated with onset to IV tPA under 120 minutes, in CTA-proven ICA or MCA occlusion, and in both, results were similar. The probability of achieving recanalization (AOL 2–3) of the primary arterial occlusive lesion [RR 1.3 CI99 1.0–1.8] or achieving TICI 2b/3 reperfusion [RR 2.0 CI99 1.2–3.2] was higher among subjects with higher ASPECTS scores. Conclusions ASPECTS is a strong predictor of outcome and a predictor of reperfusion. ASPECTS did not identify a sub-population of subjects that particularly benefitted from endovascular therapy immediately after routine IV tPA. PMID:24335227
Grom, I-U; Vagts, D A; Kampa, U; Pfeiffer, G; Schreiber-Winzig, L; Wiese, C H R
The accompaniment of people in the face of death offers insights into dimensions which are mostly not seen in ordinary life. These insights also exist in intensive care in German hospitals and are highly relevant in medical decision making. End-of-life decisions in particular often determine medical, cultural and spiritual aspects concerning medical treatment and therapeutic targets and if necessary new therapy targets. The following article especially illuminates cultural aspects and their characteristics in patients at the end of life in the intensive care unit.
Scheel, Corinna N; Bender, Caroline; Tuschen-Caffier, Brunna; Brodführer, Anne; Matthies, Swantje; Hermann, Christiane; Geisse, Eva K; Svaldi, Jennifer; Brakemeier, Eva-Lotta; Philipsen, Alexandra; Jacob, Gitta A
Shame is related to several mental disorders. We assume that facets of shame, namely bodily, cognitive and existential shame, may occur in typical patterns in mental and personality disorders. An excessive level of shame may lead to psychopathological symptoms. However, a lack of shame may also lead to distress, for instance as it may facilitate violation of social norms and thus may promote interpersonal problems. In this study we investigated facets of shame in females suffering from various mental disorders and personality disorders presumably associated with specific aspects of shame. Women suffering from borderline personality disorder (BPD, n=92), attention deficit hyperactivity disorder (ADHD, n=86), major depressive disorder (MDD, n=17), social anxiety disorder (SAD, n=33), and a community sample (COM, n=290) completed the SHAME questionnaire, which is a newly developed instrument to assess adaptive and maladaptive aspects of shame. BPD patients reported the highest level of existential shame compared to all other groups. Compared to the controls, SAD patients displayed stronger bodily and cognitive shame, and ADHD showed lower bodily shame. As assumed, specific aspects of shame were found in different patient groups. It may be important to specifically address these specific aspects of shame in psychotherapy.
Hassid, Victor J.; Maqusi, Suhair; Culligan, Emmett; Cohen, Mimis N.; Antony, Anuja K.
Oncologic mandibular reconstruction has changed significantly over the years and continues to evolve with the introduction of newer technologies and techniques. Patient demographic, reconstructive, and complication data were obtained from a prospectively maintained clinical database of patients who underwent head and neck reconstruction at our institution. The free fibular flap is now considered the gold standard for mandibular reconstruction. However, in patients with multiple comorbidities, lengthy procedures may be less optimal and pedicled flaps, with specific modifications, can yield reasonable outcomes. Technical aspects and comorbidity profiles are examined in the oncological mandibular reconstruction cohort. PMID:22550602
Nagel, Simon; Sinha, Devesh; Day, Diana; Reith, Wolfgang; Chapot, René; Papanagiotou, Panagiotis; Warburton, Elizabeth A; Guyler, Paul; Tysoe, Sharon; Fassbender, Klaus; Walter, Silke; Essig, Marco; Heidenrich, Jens; Konstas, Angelos A; Harrison, Michael; Papadakis, Michalis; Greveson, Eric; Joly, Olivier; Gerry, Stephen; Maguire, Holly; Roffe, Christine; Hampton-Till, James; Buchan, Alastair M; Grunwald, Iris Q
Background The Alberta Stroke Program Early Computed Tomography Score (ASPECTS) is an established 10-point quantitative topographic computed tomography scan score to assess early ischemic changes. We performed a non-inferiority trial between the e-ASPECTS software and neuroradiologists in scoring ASPECTS on non-contrast enhanced computed tomography images of acute ischemic stroke patients. Methods In this multicenter study, e-ASPECTS and three independent neuroradiologists retrospectively and blindly assessed baseline non-contrast enhanced computed tomography images of 132 patients with acute anterior circulation ischemic stroke. Follow-up scans served as ground truth to determine the definite area of infarction. Sensitivity, specificity, and accuracy for region- and score-based analysis, receiver-operating characteristic curves, Bland-Altman plots and Matthews correlation coefficients relative to the ground truth were calculated and comparisons were made between neuroradiologists and different pre-specified e-ASPECTS operating points. The non-inferiority margin was set to 10% for both sensitivity and specificity on region-based analysis. Results In total 2640 (132 patients × 20 regions per patient) ASPECTS regions were scored. Mean time from onset to baseline computed tomography was 146 ± 124 min and median NIH Stroke Scale (NIHSS) was 11 (6-17, interquartile range). Median ASPECTS for ground truth on follow-up imaging was 8 (6.5-9, interquartile range). In the region-based analysis, two e-ASPECTS operating points (sensitivity, specificity, and accuracy of 44%, 93%, 87% and 44%, 91%, 85%) were statistically non-inferior to all three neuroradiologists (all p-values <0.003). Both Matthews correlation coefficients for e-ASPECTS were higher (0.36 and 0.34) than those of all neuroradiologists (0.32, 0.31, and 0.3). Conclusions e-ASPECTS was non-inferior to three neuroradiologists in scoring ASPECTS on non-contrast enhanced computed tomography images of
Blomdahl, Christina; Gunnarsson, Birgitta A; Guregård, Suzanne; Rusner, Marie; Wijk, Helle; Björklund, Anita
Art therapy is based mainly on clinical experience and is rarely described and evaluated scientifically. There is a need for further exploration of its use in patients with depression. The aim of this study was to explore what experts consider to be the main aspects of art therapy in clinical practice for patients with depression. Eighteen occupational therapists experienced and educated in art therapy participated. The experts answered three rounds of Delphi questionnaires and ranked their agreement with 74 assertions. Consensus was defined as 70% or higher. The experts agreed more on assertions about theoretical frames of reference than about clinical practice. The main aspects of art therapy were agreed to be the patients' opportunity to express themselves verbally and through making art. It was equally important that art tasks provided an opportunity to address depressive thoughts, feelings, life experiences, and physical symptoms. Experts in the field of art therapy considered that the main aspect of clinical practice in art therapy for patients with depression is that art themes should promote expression related to both to depression and personal history.
Leander, W J
It is the critical, yet largely unknown aspects of Patient Focused care team design--the "how" of a design process--which make LRMC's "Care Pairs" a ground-breaking innovation rather than just a distinctive-sounding name. Unfortunately, many hospital leaders of Patient Focused Care programs know the "what" of LRMC's "Care Pairs" but very little, if anything, about this "how." To create Patient Focused care teams which are "right" for your own institution, you must quantify the Costs of Continuity, Competency and Compartmentalization and their associated benefits. Without these informed trade-offs, you and your hospital will be forced to live with someone else's Patient Focused care team design. In summary, it is what you don't know about LRMC's "Care Pairs," not what you do know, that is important to your Patient Focused Care program. Hospitals just beginning to implement Patient Focused Care must understand this "how" if they are to design effective care teams which optimize the performance of their initial unit(s) within their unique environments. Hospitals like LRMC with established Patient Focused Care units must also periodically draw upon this "how" or they face the very real danger of having their Patient Focused care team design(s) become outdated, less effective and eventually detrimental. Or, said another way: "The man who does not read good books has no advantage over those who cannot." Mark Twain. "An out-of-date Patient Focused hospital has no advantage over those which remain unrestructured." The PFCA. The three critical aspects of Patient Focused care team design explored in this article are just the tip of the iceberg.(ABSTRACT TRUNCATED AT 250 WORDS)
Torres-Ortuño, A; Cid-Sabatel, R; Barbero, J; García-Dasí, M
This article discusses, from a psychological perspective, the life experience of the adult and ageing person with haemophilia, including psychological issues, aspects of his personal and social integration, decision-making, communication and other factors that may affect treatment adherence and quality of life. The aim was to provide haematologists and healthcare staff with knowledge and resources to improve communication and support for adult persons with haemophilia, and raise awareness on psychosocial issues related to quality of life, sexuality and aspects associated with ageing with haemophilia. Adulthood is a period of many personal and social changes, and ageing with haemophilia is a relatively new phenomenon due to increased life expectancy in this population. Patients have to adapt to the disease continuously when facing new expectations, life projects and issues arising with increasing age, so the healthcare team should be ready to provide support. A good therapeutic alliance with the patient must be accompanied by assessment and counselling in aspects including satisfaction, perceived difficulties and barriers, and emotional needs. Raising awareness of all this will result in the patient benefiting from the recent improvements in treatments.
Van Gerven, E; Deweer, D; Scott, S D; Panella, M; Euwema, M; Sermeus, W; Vanhaecht, K
When a patient safety incident (PSI) occurs, not only the patient, but also the involved health professional can suffer. This study focused on this so-called "second victim" of a patient safety incident and aimed to examine: (1) experienced symptoms in the aftermath of a patient safety incident; (2) applied coping strategies; (3) the received versus needed support and (4) the aspects that influenced whether one becomes a second victim. Thirty-one in-depth interviews were performed with physicians, nurses and midwives who have been involved in a patient safety incident. The symptoms were categorized under personal and professional impact. Both problem focused and emotion focused coping strategies were used in the aftermath of a PSI. Problem focused strategies such as performing a root cause analysis and the opportunity to learn from what happened were the most appreciated, but negative emotional responses such as repression and flight were common. Support from colleagues and supervisors who were involved in the same event, peer supporters or professional experts were the most needed. A few individuals described emotional support from the healthcare institution as unwanted. Rendered support was largely dependent on the organizational culture, a stigma remained among healthcare professionals to openly discuss patient safety incidents. Three aspects influenced the extent to which a healthcare professional became a second victim: personal, situational and organizational aspects. These findings indicated that a multifactorial approach including individual and emotional support to second victims is crucial. Copyright © 2016 SECA. Publicado por Elsevier España, S.L.U. All rights reserved.
dos Santos, Juliana Pereira; Gomes Neto, Mansueto
Background Sickle cell anemia is a chronic inherited disease, widespread in the Brazilian population due to the high degree of miscegenation in the country. Despite the high prevalence, there are few studies describing the characteristics of patients and the impact of the disease on quality of life. Objective To describe the sociodemographic profile and the impact of the disease on the quality of life of sickle cell anemia patients. Methods Over 18-year-old patients with sickle cell anemia who attended meetings held by the Associação Baiana de Portadores de Doenças Falciformes, an association for sickle cell anemia patients in Bahia, were interviewed. Sociodemographic data were collected and the generic the Medical Outcomes 36-Item Short-Form Health Survey (SF-36) questionnaire, which is used to assess quality of life, was applied. The analysis of the descriptive statistics was performed using the Statistics Program for the Social Sciences software. Results Thirty-two mostly female (65.6%) patients were interviewed. The mean age was 31.9 ± 12.67 years, 50.0% considered themselves black, 68.8% did not work and 87.5% had per capita income below the poverty line (up to one and a half minimum wages). The SF-36 scores were: limitation by physical aspects 26.56, functional capacity 28.9, emotional aspects 30.20, social aspects, 50.0, pain 50.31, mental health 54.62, general health status 56.09 and vitality 56.71. This shows that the disease has a huge impact on the patients' quality of life. Conclusion The disease interferes in the working capacity of individuals, who mostly have low incomes and impaired access to healthcare services and significantly impacts on their quality of life. PMID:24106440
Yamamoto, K; Nakayama, Y; Yamamoto, I; Matsusue, Y; Shimotsuji, H; Kirita, T
A case of a ferromagnetic foreign body in a medically compromised patient was reported. The patient was a 45-year-old male who consulted our department complaining of a foreign body accidentally impacted in the right cheek. X-ray examination revealed a foreign body at the lateral aspect of the right mandibular ramus. The removal of the foreign body was scheduled, but the patient did not return for the procedure. After 8 years he revisited our department for the removal of the foreign body, because it had been found to be ferromagnetic and a barrier to MRI examination. X-ray examination confirmed the foreign body was located at the same site as 8 years prior. Although the patient was suffering from liver cirrhosis with thrombocytopenia and leukopenia, the foreign body was successfully removed under general anesthesia. The foreign body was 12 × 5 × 1 mm, weighed 0.48 g, and was ferromagnetic. The patient’s postoperative course was uneventful. X-ray examination confirmed the removal of the foreign body. Since the surgery, the patient has been in generally stable condition with no complications. This case was a rare example of a foreign body that needed to be removed for medical examination. PMID:27583049
Bergh, Anne-Louise; Persson, Eva; Karlsson, Jan; Friberg, Febe
It is important to clarify nurses' perceptions of conditions for patient education in daily work as research findings are ambiguous. There is a gap between societal regulations on nurses' competence in accomplishment/achievement of patient education and research findings. The aim was to describe nurses' perceptions of conditions for patient education, focusing on aspects of competence. The aim was also to describe differences in conditions for nurses working in primary, municipal and hospital care. The study is a cross-sectional survey and is part of a project about nurses' patient-education. A randomized selection of nurses (842) received a questionnaire comprising 47 items concerning factual experience and attitudes to patient education and 13 background items. Questionnaires were returned by 83% of participants. Descriptive statistics, non-parametric tests and content analysis for open-ended items were used. Nurses' perceptions of conditions for patient education differ between health-care settings. Primary care nurses are at an advantage in following research in patient education, perception of their own competence (prioritizing and knowing their mandate in patient teaching), pedagogical education and post graduate specializations. Nurses' patient education must be more visualized and appropriate conditions created at each workplace. In this change process, managers' support is considered vital. © 2013 Nordic College of Caring Science.
The purpose of this paper is to touch on some aspects of patients' potentially ambivalent attitude toward change in the early stages of treatment. A de-identified case study is used as a springboard for discussing these issues. A range of factors can affect a person's confidence in, commitment to, and results from their treatment. Some of these include: the patient feeling that the nature of their problem--including any ambivalence to change--has been adequately understood; the clinician expressing reassurance or encouragement only after due consideration; the clinician and patient discussing their respective expectations at the outset so as to minimize any subsequent disenchantment; and recognizing the possible presence of a patient's performance anxiety around fearing he or she may fail to respond to treatment and disappoint not only him- or herself but others as well.
This literature review aims to evaluate the epidemiologic profile of patients with rheumatoid arthritis (RA) that developed a bisphosphonate-related osteonecrosis that affect the jaws (BRONJ), including demographic aspects, as well as clinical and therapeutic issues. A search of PUBMED/MEDLINE, Scopus, and Cochrane databases from January 2003 to September 2011 was conducted with the objective of identifying publications that contained case reports regarding oral BRONJ in RA patients. Patients with RA who develop oral BRONJ are usually women above 60 years taking steroids and long-term alendronate. Most of them have osteoporosis, and lesions, triggered by dental procedures, are usually detected at stage II in the mandible. Although there is no accepted treatment protocol, these patients seem to have better outcomes with conservative approaches that include antibiotic therapy, chlorhexidine, and drug discontinuation. PMID:22376948
Baloch, Abdul Hameed; Shuja, Jameela; Daud, Shakeela; Ahmed, Muneer; Ahmad, Adeel; Tareen, Mehrullah; Khan, Farah; Kakar, Muhammad Azam; Baloch, Dost Mohammad; Kakar, Naseebullah; Naseeb, Hafiz Khush; Ahmad, Jamil
Breast cancer is the commonest malignancy of females throughout the world with one million new cases each year. In Pakistan, the burden of breast cancer disease is high with late stage presentation being a common feature, more than half being stage III or stage IV. The objective of this study was to study various aspects, patterns and risk factors in breast cancer patients of Balochistan. Present study was performed on 134 patients of breast cancer who were registered in CENAR. The patients were interviewed by providing a questionnaire. Informed consent was taken from all the patients who took part in this study after explanation of the study aims. Body mass index (BMI) was calculated andbiopsy reports were obtained from patients files. All the cases were classified with respect to age, gender, ethnic group (Baloch, Pashtoon, Punjabi, Afghani, Hazara) BMI, cancer type, cancer grade, hormonal status, side of the cancer, fertility and marital status. Out of 134 patients, the most common ethnic group was Pashtoon with a total of 42 and the common age group was 41-50 years with a total of 51. Invasive ductal carcinoma (IDC) was the most common type, accounting for in 128 patients (95.5%) followed by invasive lobular carcinoma (ILC). Pashtoon was the most common ethnic group, IDC was common type and most of the patients had an ER/PR positive hormonal status.
Herrera-Espiñeira, Carmen; Rodríguez del Aguila, Maria del Mar; Rodríguez del Castillo, Mercedes; Valdivia, Antonia Fernández; Sánchez, Isabel Reyes
The objective of this study was to explore the possible association between the anxiety level of patients and their satisfaction with different aspects of healthcare. This analytical cross-sectional study included 301 patients undergoing scheduled trauma surgery from October 2004 to May 2005 at the Virgen de las Nieves University Hospital in Granada (Spain). They completed a sociodemographic and clinical questionnaire before their discharge and, at 15 days after discharge, they responded to an ad hoc questionnaire comprising three items (satisfaction with information received, privacy and comfort of the setting, and friendliness of healthcare professionals), and were scored on an interviewer-administered Zung anxiety scale. Descriptive analysis and unadjusted logistic regression were performed for each factor, followed by multivariate logistic regression to model the association between satisfaction and anxiety with study of confounding variables. For each higher point in the Zung test, patients had a 4% higher risk of feeling dissatisfied with the information received, an 8% higher risk of dissatisfaction with the hospital setting and a 6% higher risk of dissatisfaction with the friendliness of healthcare personnel. A higher anxiety level in the patient was associated with greater dissatisfaction with the three healthcare aspects studied.
Röttger, Stefan; Maier, Johanna; Krex-Brinkmann, Larissa; Kowalski, Jens T; Krick, Annika; Felfe, Jörg; Stein, Michael
Health-promoting efforts strongly depend on individual cognitions such as attitudes as well as social cognitive aspects of the work environment such as leadership and support. Using the theory of planned behavior (TPB) as a theoretical frame, participation behavior of employees in courses offered by the workplace health promotion (WHP) program of the German Armed Forces was investigated. Social cognitive aspects of the work environment, such as leadership behaviors by setting an example or optimizing organization of work, were included in the TPB components of subjective norm and perceived behavioral control, which allowed for an investigation of the specific effects of leadership on WHP participation. A survey study with N=1385 members of the German Armed Forces was conducted in 2015 in Germany. Results showed that perceived behavioral control and attitudes towards WHP were the strongest predictors for WHP participation. While subjective norm was positively related to attitudes, it had a slightly negative effect on intention to participate in WHP activities. These findings suggest that the most effective way for leadership to increase WHP participation is to enhance perceived behavioral control. Quite contrary, creating a positive subjective norm regarding WHP participation may even result in psychological reactance. Copyright © 2017 Elsevier Inc. All rights reserved.
Puchalska-Dabrowska, Bernadetta M
The article aims at the analysis of the definition of illness and principal forms of patient treatment in early Franciscan sources. The term "illness" as present in the texts under discussion is understood both "spritually" as the condition of a person in the state of sin and "traditionally" as a physical or mental disease. The author's research focuses mainly on the second aspect of the term. The person of a sick and the necessity of patient care is one of the key problems in Franciscan spirituality, emphasized by major documents regulating the life of the first communities of the Friars Minor and Poor Clares. Concrete examples of patient treatment found in the early Franciscan hagiography provide an interesting material for studying both history of medicine and the charisma of St. Francis and his followers.
Gonzalez-Calero, Laura; Martínez, Paula J.; Martin-Lorenzo, Marta; Baldan-Martin, Montserrat; Ruiz-Hurtado, Gema; de la Cuesta, Fernando; Calvo, Eva; Segura, Julian; Lopez, Juan Antonio; Vázquez, Jesús; Barderas, Maria G.; Ruilope, Luis M.; Vivanco, Fernando; Alvarez-Llamas, Gloria
Albuminuria is an indicator of cardiovascular risk and renal damage in hypertensive individuals. Chronic renin–angiotensin system (RAS) suppression facilitates blood pressure control and prevents development of new-onset-albuminuria. A significant number of patients, however, develop albuminuria despite chronic RAS blockade, and the physiopathological mechanisms are underexplored. Urinary exosomes reflect pathological changes taking place in the kidney. The objective of this work was to examine exosomal protein alterations in hypertensive patients with albuminuria in the presence of chronic RAS suppression, to find novel clues underlying its development. Patients were followed-up for three years and were classified as: a) patients with persistent normoalbuminuria; b) patients developing de novo albuminuria; and c) patients with maintained albuminuria. Exosomal protein alterations between groups were identified by isobaric tag quantitation (iTRAQ). Confirmation was approached by target analysis (SRM). In total, 487 proteins were identified with high confidence. Specifically, 48 proteins showed an altered pattern in response to hypertension and/or albuminuria. Out of them, 21 proteins interact together in three main functional clusters: glycosaminoglycan degradation, coagulation and complement system, and oxidative stress. The identified proteins constitute potential targets for drug development and may help to define therapeutic strategies to evade albuminuria progression in hypertensive patients chronically treated. PMID:28562335
Cervantes, Emilio; Tocino, Angel
Structurally, ethylene is the simplest phytohormone and regulates multiple aspects of plant growth and development. Its effects are mediated by a signal transduction cascade involving receptors, MAP kinases and transcription factors. Many morphological effects of ethylene in plant development, including root size, have been previously described. In this article a combined geometric and algebraic approach has been used to analyse the shape and the curvature in the root apex of Arabidopsis seedlings. The process requires the fitting of Bezier curves that reproduce the root apex shape, and the calculation of the corresponding curvatures. The application of the method has allowed us to identify significant differences in the root curvatures of ethylene insensitive mutants (ein2-1 and etr1-1) with respect to the wild-type Columbia.
Cervantes, Emilio; Tocino, Angel
Structurally, ethylene is the simplest phytohormone and regulates multiple aspects of plant growth and development. Its effects are mediated by a signal transduction cascade involving receptors, MAP kinases and transcription factors. Many morphological effects of ethylene in plant development, including root size, have been previously described. In this article a combined geometric and algebraic approach has been used to analyse the shape and the curvature in the root apex of Arabidopsis seedlings. The process requires the fitting of Bézier curves that reproduce the root apex shape, and the calculation of the corresponding curvatures. The application of the method has allowed us to identify significant differences in the root curvatures of ethylene insensitive mutants (ein2-1 and etr1-1) with respect to the wild-type Columbia.
Cervantes, Emilio; Tocino, Angel
Structurally, ethylene is the simplest phytohormone and regulates multiple aspects of plant growth and development. Its effects are mediated by a signal transduction cascade involving receptors, MAP kinases and transcription factors. Many morphological effects of ethylene in plant development, including root size, have been previously described. In this article a combined geometric and algebraic approach has been used to analyse the shape and the curvature in the root apex of Arabidopsis seedlings. The process requires the fitting of Bezier curves that reproduce the root apex shape, and the calculation of the corresponding curvatures. The application of the method has allowed us to identify significant differences in the root curvatures of ethylene insensitive mutants (ein2-1 and etr1-1) with respect to the wild-type Columbia.
Barbareschi, M; Denti, F; Bottelli, S; Greppi, F
A seventy-four-year-old patient had lupus vulgaris associated with the nodular, confluent ulcerated type of pulmonary tuberculosis. The diagnosis had been missed on several occasions. The presence of cutaneous tuberculosis in developed countries is emphasized again. It is also stressed that chronic dermatosis of unknown nature in an immunocompetent patient may have a tubercular origin. Complete resolution of the disease was achieved after almost two years of anti-tubercular therapy.
Kouris, Anargyros; Christodoulou, Christos; Stefanaki, Christina; Livaditis, Miltiadis; Tsatovidou, Revekka; Kouskoukis, Constantinos; Petridis, Athanasios; Kontochristopoulos, George
BACKGROUND Psoriasis is a common, long-term skin disease associated with high levels of psychological distress and a considerable adverse impact on life. The effects of psoriasis, beyond skin affliction, are seldom recognized and often undertreated. OBJECTIVE The aim of the study is to evaluate the quality of life, anxiety and depression, self-esteem and loneliness in patients with psoriasis. METHODS Eighty-four patients with psoriasis were enrolled in the study. The quality of life, depression and anxiety, loneliness and self-esteem of the patient were assessed using the Dermatology Life Quality Index, Hospital Anxiety and Depression Scale, the UCLA loneliness Scale (UCLA-Version 3) and Rosenberg's Self-esteem Scale, respectively. RESULTS The Dermatology Quality of Life Index score among psoriasis patients was 12.61 ± 4.88. They had statistically significantly higher scores according to the Hospital Anxiety and Depression Scale -anxiety subscale (p=0.032)-compared with healthy volunteers. Moreover, a statistically significant difference was found between the two groups concerning the UCLA-scale (p=0.033) and RSES-scale (p<0.0001). Female patients presented with lower self-esteem than male patients. CONCLUSION Psoriasis is a distressing, recurrent disorder that significantly impairs quality of life. Therefore, the recognition and future management of psoriasis may require the involvement of multi-disciplinary teams to manage the physical, psychological and social aspects of the condition, as is the case for systemic, long-term conditions. PMID:26734865
Cotti, S; Cagetti, M G; Muscas, G
The authors report a clinical investigation on 49 patients: 9 with acute leukemia and 40 with chronic leukemia. A file suggested by OMS was used to collect all data about patients and case histories. Patients suffering from acute leukemia, admitted to sterile rooms, were submitted to a simple clinical investigation because of their severe general conditions and to avoid any contamination. Except for a case of stomatitis caused by methotrexate, no oral disease was observed. Patients with LMC, examined with CPITN index, revealed a high presence of tartar (44.87%) and periodontal pockets, 4-5 mm deep, (23.72%). DMFT was 22.60, a rather high value caused by the large number of missing teeth. The data analysis evidences the severe clinical conditions of the patients and the urgent necessity for proper prophylactic and therapeutic treatment.
Fernandez, Alicia; Seligman, Hilary; Quan, Judy; Stern, Rachel J; Jacobs, Elizabeth A
Culturally competent care may be associated with clinical outcomes in diabetes management, which requires effective physician-patient collaboration. The recent development and validation of the Consumer Assessment of Healthcare Providers and Systems Cultural Competence tool enables investigation of possible associations. To assess whether 3 aspects of culturally competent care are associated with glycemic, lipid, and blood pressure control among ethnically diverse patients with diabetes. Survey and chart review study of patients recruited from urban safety net clinics in 2 cities. A total of 600 patients with type 2 diabetes and a primary care physician. We used multivariate logistic regression to assess the independent relationships between the 3 domains of the Consumer Assessment of Healthcare Providers and Systems Cultural Competence (Doctor Communication-Positive Behaviors, Trust, and Doctor Communication-Health Promotion) and glycemic, lipid, and systolic blood pressure control after adjusting for sociodemographic and clinical factors. In adjusted analysis, high Trust was associated with lower likelihood of poor glycemic control (odds ratio, 0.59; 95% confidence interval, 0.41-0.84) and high Doctor Communication-Health Promotion was associated with a higher likelihood of poor glycemic control (odds ratio, 1.49, 95% CI, 1.02-2.19). None of the 3 aspects of culturally competent care examined were associated with lipid or systolic blood pressure control after adjustment. Trust in physician, a core component of culturally competent care, but not doctor communication behavior, was associated with a lower likelihood of poor glycemic control in a safety net population with diabetes. Glycemic control may be more sensitive to patient physician partnership than blood pressure and hyperlipidemia control.
Ten years ago, the first cellular receptor for the prototypic arenavirus lymphocytic choriomeningitis virus (LCMV) and the highly pathogenic Lassa virus (LASV) was identified as alpha-dystroglycan (alpha-DG), a versatile receptor for proteins of the extracellular matrix (ECM). Biochemical analysis of the interaction of alpha-DG with arenaviruses and ECM proteins revealed a strikingly similar mechanism of receptor recognition that critically depends on specific sugar modification on alpha-DG involving a novel class of putative glycosyltransferase, the LARGE proteins. Interestingly, recent genome-wide detection and characterization of positive selection in human populations revealed evidence for positive selection of a locus within the LARGE gene in populations from Western Africa, where LASV is endemic. While most enveloped viruses that enter the host cell in a pH-dependent manner use clathrin-mediated endocytosis, recent studies revealed that the Old World arenaviruses LCMV and LASV enter the host cell predominantly via a novel and unusual endocytotic pathway independent of clathrin, caveolin, dynamin, and actin. Upon internalization, the virus is rapidly delivered to endosomes via an unusual route of vesicular trafficking that is largely independent of the small GTPases Rab5 and Rab7. Since infection of cells with LCMV and LASV depends on DG, this unusual endocytotic pathway could be related to normal cellular trafficking of the DG complex. Alternatively, engagement of arenavirus particles may target DG for an endocytotic pathway not normally used in uninfected cells thereby inducing an entry route specifically tailored to the pathogen's needs.
Hojo, Masaru K.; Ishii, Kenichi; Sakura, Midori; Yamaguchi, Katsushi; Shigenobu, Shuji; Ozaki, Mamiko
Chemical communication is essential for the coordination of complex organisation in ant societies. Recent comparative genomic approaches have revealed that chemosensory genes are diversified in ant lineages, and suggest that this diversification is crucial for social organisation. However, how such diversified genes shape the peripheral chemosensory systems remains unknown. In this study, we annotated and analysed the gene expression profiles of chemosensory proteins (CSPs), which transport lipophilic compounds toward chemosensory receptors in the carpenter ant, Camponotus japonicus. Transcriptome analysis revealed 12 CSP genes and phylogenetic analysis showed that 3 of these are lineage-specifically expanded in the clade of ants. RNA sequencing and real-time quantitative polymerase chain reaction revealed that, among the ant specific CSP genes, two of them (CjapCSP12 and CjapCSP13) were specifically expressed in the chemosensory organs and differentially expressed amongst ant castes. Furthermore, CjapCSP12 and CjapCSP13 had a ratio of divergence at non-synonymous and synonymous sites (dN/dS) greater than 1, and they were co-expressed with CjapCSP1, which is known to bind cuticular hydrocarbons. Our results suggested that CjapCSP12 and CjapCSP13 were functionally differentiated for ant-specific chemosensory events, and that CjapCSP1, CjapCSP12, and CjapCSP13 work cooperatively in the antennal chemosensilla of worker ants. PMID:26310137
Spero, M H
Revitalized interest in the clinical complexities of psychotherapy with religious patients (for example, Bradford 1984; Lovinger 1984; Spero 1985a; Stern 1985) has drawn attention to the need for perspectives on religious personality development that account for healthy and adaptational aspects as well as psychopathological aspects of particular forms and levels of religious beliefs, enabling more creative, enriching psychotherapy. This search represents movement beyond the significance of infantile wish-fulfillment aspects of religiosity toward the broader domain of ego functioning and quality of object relations. Rizzuto (1976, 1979) and McDargh (1983) emphasize qualitative similarities between interpersonal object representations and God representations. Elkind (1971), using a Piagetian model, views religious beliefs and rituals as forms of constructive adaptation to normal cognitive needs for conservation, representation, symbols of relation, and comprehension. Meissner (1984) highlights the role of God concepts as transitional phenomena. In earlier papers, I have demonstrated the relationship between patients' use of religious themes and legends, quality of psychosexual and object relational achievements, and the consolidation of religious identity (Spero 1982a,b, 1986a,b). Throughout the preceding there is unequivocal recognition that religious development recapitulates many important aspects of healthy psychological development, and that in the case of pathological or dysfunctional religiosity something has gone wrong in an otherwise normal process. There is need to understand and if necessary distinguish between the development of religious belief in individuals whose ideological commitment is relatively constant from earliest childhood and its development in those who adopt or modify religious belief in later life, in conjunction with the many technical implications for psychotherapy. Clinical experience has taught that the process of religious change in
Oliveira, Cristiano Claudino; Ianhez, Pedro Eugênio de Carvalho; Marques, Silvio Alencar; Marques, Mariângela Esther Alencar
Granuloma faciale is a chronic, benign, cutaneous vasculitis with well-established clinical and morphological patterns, but with an unknown etiology. This study describes clinical and pathologic aspects of patients diagnosed with granuloma faciale. The authors analyzed demographic, clinical, morphological and immunohistochemical data from patients with a final diagnosis of granuloma faciale, confirmed between 1998 and 2012. There was a proportional and mixed inflammatory infiltrate, Grenz zones were present in almost all the samples. Immunophenotyping confirmed a higher intensity of T lymphocytes than B lymphocytes in thirteen samples, with a predominance of T CD8 lymphocytes in 64% of cases, in contrast to the literature, which indicates that the major component is T CD4 lymphocytes. All cases were positive for IgG4 but the majority (12/14) had less than 25% of stained cells. The pathogenesis of granuloma faciale remains poorly understood, making studies of morphological and immunohistochemical characterization important to better understand it. PMID:28099604
Cabak, Anna; Dąbrowska-Zimakowska, Anna; Tomaszewski, Paweł; Łyp, Marek; Kaczor, Ryszard; Tomaszewski, Wiesław; Fijałkowska, Barbara; Kotela, Ireneusz
Improvement of the effectiveness and efficiency of chronic back pain therapy is a continuing challenge on an international scale. The aim of the present study was to tentatively assess mental health of patients with chronic back pain treated in primary care centers. The study enrolled 100 persons over 50 years of age. The back pain group consisted of 53 patients with chronic back pain and the control group consisted of 47 pain-free persons. The assessment of mental health used a Polish version of the international Goldberger's General Health Questionnaire (GHQ-28). ANOVA (1- and 2-factor) analysis of variance, Tukey's test, and Pearson's simple correlation were used to analyze the significance of differences, with the significance level set at α=0.05. All patients with chronic back pain, regardless of their age and gender, displayed poorer mental well-being compared to the control group: their overall score was higher by over 7 points than in persons without back pain (F1.96=14.8; p<0.001). Men with back pain were significantly more susceptible to depression than women (F2.96=5.5; p<0.05), compared to the control group. The duration of back pain also showed a significant (p<0.05) direct correlation with the overall mental health score from the questionnaire. Mental health was considerably poorer among patients occasionally (p<0.001) and regularly (p<0.05) consuming analgesics than among persons who did not do so. The study revealed that mental health was markedly poorer in patients with chronic back pain than in healthy controls. A preliminary assessment of aspects of mental health should be given more attention in the rehabilitation of patients with chronic back pain treated in primary care center outpatient clinics.
Cabak, Anna; Dąbrowska-Zimakowska, Anna; Tomaszewski, Paweł; Łyp, Marek; Kaczor, Ryszard; Tomaszewski, Wiesław; Fijałkowska, Barbara; Kotela, Ireneusz
Background Improvement of the effectiveness and efficiency of chronic back pain therapy is a continuing challenge on an international scale. The aim of the present study was to tentatively assess mental health of patients with chronic back pain treated in primary care centers. Material/Methods The study enrolled 100 persons over 50 years of age. The back pain group consisted of 53 patients with chronic back pain and the control group consisted of 47 pain-free persons. The assessment of mental health used a Polish version of the international Goldberger’s General Health Questionnaire (GHQ-28). ANOVA (1- and 2-factor) analysis of variance, Tukey’s test, and Pearson’s simple correlation were used to analyze the significance of differences, with the significance level set at α=0.05. Results All patients with chronic back pain, regardless of their age and gender, displayed poorer mental well-being compared to the control group: their overall score was higher by over 7 points than in persons without back pain (F1.96=14.8; p<0.001). Men with back pain were significantly more susceptible to depression than women (F2.96=5.5; p<0.05), compared to the control group. The duration of back pain also showed a significant (p<0.05) direct correlation with the overall mental health score from the questionnaire. Mental health was considerably poorer among patients occasionally (p<0.001) and regularly (p<0.05) consuming analgesics than among persons who did not do so. Conclusions The study revealed that mental health was markedly poorer in patients with chronic back pain than in healthy controls. A preliminary assessment of aspects of mental health should be given more attention in the rehabilitation of patients with chronic back pain treated in primary care center outpatient clinics. PMID:26522877
Christensen, I V; Hessov, I
An analysis and assessment of the nutritional aspects of Julia Vøldan's dietary regime for patients with lumps and cancer. The main constituents of the diet are raw, biodynamically cultured vegetables, particularly potatoes, root-vegetables and cabbage, raw milk and other milk products, raw eggs, nuts, seeds, peas, beans and herbal tea. Nutritional calculations revealed that the diet was adequate as regards energy, vitamins and minerals provided that the recommended large portions were eaten. 49% of the energy originated from fat, 12% from proteins and 39% from carbohydrates. Thus, a diet with a high fat content is concerned. The fat content is much higher than that normally recommended to ensure health and prevention of disease, including cancer. The raw milk constitutes a health risk and employment of great quantities of raw potatoes, raw root vegetables and cabbage make the diet voluminous and difficult for sick people with poor appetites to consume. This, together with the relatively low protein content increase the risk of development of incorrect nutrition or undernutrition. This diet may thus be responsible for unnecessary weakening of cancer patients. Recommending of Julia Vøldan's dietary regime for patients with lumps and cancer is unsuitable from a nutritional point of view.
Al-Ghazal, S K; Fallowfield, L; Blamey, R W
The aim of this study was to assess and compare the psychological outcome and satisfaction of patients whom underwent wide local excision, mastectomy alone and mastectomy with breast reconstruction. A total of 577 patients had different types of operations for primary breast cancer (254 (44%) had wide local excision, 202 (35%) had simple mastectomy and 121 (21%) had breast reconstruction). Psychosocial morbidity and satisfaction were studied retrospectively using self-evaluation questionnaires. The three different surgical groups were cross-matched into four different age group. Significant statistical differences existed between the three procedures regarding satisfaction and psychosocial morbidity (anxiety, depression, body image, sexuality and self-esteem) in favour of wide local excision followed by breast reconstruction. Greatest morbidity was seen in the mastectomy group. Patient satisfaction of cosmetic outcome and psychosocial aspects was greater with wide local excision than with breast reconstruction or mastectomy. However, since wide local excision is indicated in only a group of patients, breast reconstruction should be an option available to patients requiring mastectomy.
Kuśnierkiewicz, Maria; Kędziora, Justyna; Jaroszyk-Pawlukiewicz, Joanna; Nowak-Jaroszyk, Monika
With society getting older and affected by many diseases, more and more people suffer from severe cognitive disorders. As practice shows, the legal situations of such people is often problematic. This is due to a number of factors, such as short time since the deterioration of patient's condition, initial symptoms ignored, social prejudice towards the idea of incapacitation or taking decisions for a patient, complicated procedures and, sometimes, insufficient knowledge of legal regulations. Cognitive disorders also occur in patients treated for cancer. To be effective, oncological treatment needs to be started as early as possible. This, however, does not meet the criteria of sudden threat to life. The present article relates to both the psychosocial and legal aspects of care of people suffering from intense disorders of memory, attention, problem solving, executive functions, and other. Surely, physicians know how to handle patients with the above dysfunctions. However, legal procedures aimed to protect patients’ rights are often unclear and time consuming. In practice, this often amounts to a dilemma whether to treat or follow the applicable law. Certainly, solutions in this regard should be clearer and better adapted to the needs arising from specific treatment needs of particular groups of patients. PMID:24936334
Bergh, Anne-Louise; Karlsson, Jan; Persson, Eva; Friberg, Febe
To describe nurses' perceptions of conditions for patient education, focusing on organisational, environmental and professional cooperation aspects, and to determine any differences between primary, municipal and hospital care. Although patient education is an important part of daily nursing practice, the conditions for this work are unclear and require clarification. A stratified random sample of 701 (83%) nurses working in primary, municipal and hospital care completed a 60-item questionnaire. The study is part of a larger project. The study items relating to organisation, environment and professional cooperation were analysed using descriptive statistics, non-parametric tests and content analysis. Conditions for patient education differ. Nurses in primary care had better conditions and more managerial support, for example in the allocation of undisturbed time. Conditions related to organisation, environment and cooperation need to be developed further. In this process, managerial support is important, and nurses must ask for better conditions in order to carry through patient education. Managerial support for the development of visible patient education routines (e.g. allocation of time, place and guidelines) is required. One recommendation is to designate a person to oversee educational work. © 2012 Blackwell Publishing Ltd.
Van der Stigchel, Stefan; Reichenbach, Roderick C L; Wester, Arie J; Nijboer, Tanja C W
Oculomotor inhibition reflects the ability to suppress an unwanted eye movement. The goal of the present study was to assess oculomotor inhibition in patients with Korsakoff's syndrome (KS). To this end, an antisaccade task was employed in which an eye movement towards an onset stimulus has to be inhibited, and a voluntary saccade has to be executed in the opposite direction. Compared to the results of a matched control group, patients showed a higher percentage of intrusive saccades, made more antisaccade errors, and showed longer latencies on prosaccade trials. These results clearly show that oculomotor inhibition is impaired in KS. Part of these deficits in oculomotor inhibition may be explained by neuronal atrophy in the frontal areas, which is generally associated with KS.
Frénisy, Marie-Claude; Bénony, Hervé; Chahraoui, Khadija; Minot, Delphine; d'Athis, Philippe; Pinoit, Jean-Michel; Freysz, Marc
The study aims to describe the neurobehavioral and psychopathological disorders in road crash victims with cerebral lesions compared with multiple trauma sufferers with no brain damage. This study compares the neuropsychological and psychopathological developments of two groups of road crash victims (25 severe brain injuries (SBI) and 25 multiple traumas (MULT)) on the basis of the Neurobehavioral Scale, the SCL 90-R and the State/Trait Anxiety Scale. On the basis of the Neurobehavioral Scale, it was clear that the SBI patients suffered from significantly more disorders of type factor 1 (self-appraisal and flexible thinking), factor II (withdrawal), factor III (mood swings, irritability, disinhibition, excitement), factor IV (attention, slower motor responses, and mental fatigue), factor V (articulatory problems, problems of oral expression, and oral comprehension) and nonfactored disorders (exaggerated somatic concerns). On the SCL 90-R scale, we observed a higher level of obsessive symptoms in the SBI patients, whereas there was no significant difference between the two groups on the State/Trait Anxiety Scale. Unexpected results indicated that the multiple trauma patients suffered from memory troubles (60%), concept disorganization (32%), loss of initiative (36%), irritability (52%), unusual thought content (40%), mood swings (40%), attention difficulties (24%), suspiciousness (48%), and feelings of guilt (36%). Even though multiple trauma sufferers do not receive a psychologic assessment of their cerebral functioning, and do not benefit from any rehabilitation, they exhibit neurobehavioral and psychopathological disorders which need to be taken into account when designing rehabilitation programs. This study points toward new therapeutic methods for the treatment of multiple trauma sufferers.
Christopherson, Melissa R; Dawson, John A; Stevenson, David M; Cunningham, Andrew C; Bramhacharya, Shanti; Weimer, Paul J; Kendziorski, Christina; Suen, Garret
Bacteria in the genus Ruminococcus are ubiquitous members of the mammalian gastrointestinal tract. In particular, they are important in ruminants where they digest a wide range of plant cell wall polysaccharides. For example, Ruminococcus albus 7 is a primary cellulose degrader that produces acetate usable by its bovine host. Moreover, it is one of the few organisms that ferments cellulose to form ethanol at mesophilic temperatures in vitro. The mechanism of cellulose degradation by R. albus 7 is not well-defined and is thought to involve pilin-like proteins, unique carbohydrate-binding domains, a glycocalyx, and cellulosomes. Here, we used a combination of comparative genomics, fermentation analyses, and transcriptomics to further clarify the cellulolytic and fermentative potential of R. albus 7. A comparison of the R. albus 7 genome sequence against the genome sequences of related bacteria that either encode or do not encode cellulosomes revealed that R. albus 7 does not encode for most canonical cellulosomal components. Fermentation analysis of R. albus 7 revealed the ability to produce ethanol and acetate on a wide range of fibrous substrates in vitro. Global transcriptomic analysis of R. albus 7 grown at identical dilution rates on cellulose and cellobiose in a chemostat showed that this bacterium, when growing on cellulose, utilizes a carbohydrate-degrading strategy that involves increased transcription of the rare carbohydrate-binding module (CBM) family 37 domain and the tryptophan biosynthetic operon. Our data suggest that R. albus 7 does not use canonical cellulosomal components to degrade cellulose, but rather up-regulates the expression of CBM37-containing enzymes and tryptophan biosynthesis. This study contributes to a revised model of carbohydrate degradation by this key member of the rumen ecosystem.
Background As an obligate intracellular parasite, Apicomplexa interacts with the host in the special living environment, competing for energy and nutrients from the host cells by manipulating the host metabolism. Previous studies of host-parasite interaction mainly focused on using cellular and biochemical methods to investigate molecular functions in metabolic pathways of parasite infected hosts. Computational approaches taking advantage of high-throughput biological data and topology of metabolic pathways have a great potential in revealing the details and mechanism of parasites-to-host interactions. A new analytical method was designed in this work to study host-parasite interactions in human cells infected with Plasmodium falciparum and Cryptosporidium parvum. Results We introduced a new method that analyzes the host metabolic pathways in divided parts: host specific subpathways and host-parasite common subpathways. Upon analysis on gene expression data from cells infected by Plasmodium falciparum or Cryptosporidium parvum, we found: (i) six host-parasite common subpathways and four host specific subpathways were significantly altered in plasmodium infected human cells; (ii) plasmodium utilized fatty acid biosynthesis and elongation, and Pantothenate and CoA biosynthesis to obtain nutrients from host environment; (iii) in Cryptosporidium parvum infected cells, most of the host-parasite common enzymes were down-regulated, whereas the host specific enzymes up-regulated; (iv) the down-regulation of common subpathways in host cells might be caused by competition for the substrates and up-regulation of host specific subpathways may be stimulated by parasite infection. Conclusion Results demonstrated a significantly coordinated expression pattern between the two groups of subpathways. The method helped expose the impact of parasite infection on host cell metabolism, which was previously concealed in the pathway enrichment analysis. Our approach revealed detailed
Costa, J E F; Neves, R P; Delgado, M M; Lima-Neto, R G; Morais, V M S; Coêlho, M R C D
Dermatophytosis in individuals with human immunodeficiency virus infection seems to manifest with atypical, multiple, or extensive lesions more frequently. In addition, there are reports of presentations with little inflammation, called anergics. Less common etiologic agents have been isolated in these individuals, such as Microsporum species. To describe clinical aspects and etiologic agents of dermatophytosis in individuals with human immunodeficiency virus (HIV) infection. Patients with clinical diagnosis of dermatophytosis underwent scarification for mycological diagnosis through direct microscopic examination and fungal isolation in culture on Sabouraud dextrose agar. Sixty individuals had a clinical hypothesis of dermatophytosis. In 20 (33.3%) of the 60 patients, dermatophytosis was confirmed through a mycological study. Tinea corporis, diagnosed in 14 patients, was the most frequent clinical form, followed by tinea unguium in 7, tinea cruris in 5, and tinea pedis in 1 patient. Most of the lesions of tinea corporis were anergic. Five patients with tinea unguium had involvement of multiple nails, with onychodystrophy as the predominant subtype. Multiple cutaneous lesions occurred in 3 patients and extensive cutaneous lesions in 4. Regarding the agent, Trichophyton rubrum was the most commonly isolated. The high occurrence of anergic skin lesions and involvement of multiple nails, especially as onychodystrophy, corroborates the hypothesis that atypical, disseminated, and more severe presentations are common in individuals with HIV infection. However, no Microsporum species was isolated even in atypical, extensive, or disseminated cases, in disagreement with previous reports. Therefore, the approach of squamous lesions in HIV-positive patients must include a mycological study, in view of the possibility of anergic dermatophytosis, to promote the introduction of a suitable therapeutic agent. Copyright © 2015 Elsevier B.V. All rights reserved.
Li, Wenfeng; Lan, Ping
Root hairs, tubular-shaped outgrowths from root epidermal cells, play important roles in the acquisition of nutrients and water, interaction with microbe, and in plant anchorage. As a specialized cell type, root hairs, especially in Arabidopsis, provide a pragmatic research system for various aspects of studies. Here, we re-analyzed the RNA-seq transcriptome profile of Arabidopsis root hair cells by Tophat software and used Cufflinks program to mine the differentially expressed genes. Results showed that ERD14, RIN4, AT5G64401 were among the most abundant genes in the root hair cells; while ATGSTU2, AT5G54940, AT4G30530 were highly expressed in non-root hair tissues. In total, 5409 genes, with a fold change greater than two-fold (FDR adjusted P < 0.05), showed differential expression between root hair cells and non-root hair tissues. Of which, 61 were expressed only in root hair cells. One hundred and thirty-six out of 5409 genes have been reported to be “core” root epidermal genes, which could be grouped into nine clusters according to expression patterns. Gene ontology (GO) analysis of the 5409 genes showed that processes of “response to salt stress,” “ribosome biogenesis,” “protein phosphorylation,” and “response to water deprivation” were enriched. Whereas only process of “intracellular signal transduction” was enriched in the subset of 61 genes expressed only in the root hair cells. One hundred and twenty-one unannotated transcripts were identified and 14 of which were shown to be differentially expressed between root hair cells and non-root hair tissues, with transcripts XLOC_000763, XLOC_031361, and XLOC_005665 being highly expressed in the root hair cells. The comprehensive transcriptomic analysis provides new information on root hair gene activity and sets the stage for follow-up experiments to certify the biological functions of the newly identified genes and novel transcripts in root hair cell morphogenesis. PMID:26106402
Fang, Lingling; Huang, Jia; Zhang, Qian; Chan, Raymond C K; Wang, Rong; Wan, Weiqing
OBJECTIVE Dysexecutive syndrome is common in patients with moyamoya disease (MMD), a chronic cerebrovascular disease that is characterized by stenosis of the bilateral internal carotid arteries and progressive collateral revascularization, and MMD can be classified as ischemic or hemorrhagic according to the disease presentation and history. In this study, the authors aimed to determine which aspects of executive function are impaired in patients with MMD, in addition to the specific dysexecutive functions present among its clinical subtypes and the mechanisms underlying dysexecutive function in these patients. METHODS The authors administered 5 typical executive function tests (the Stroop test, the Hayling Sentence Completion Test [HSCT], the verbal fluency [VF] test, the N-back test, and the Sustained Attention to Response Task [SART]) to 49 patients with MMD and 47 IQ-, age-, education-, and social status-matched healthy controls. The dysexecutive questionnaire (DEX) was also used to assess participants' subjective feelings about their executive function. A total of 39 of the patients were evaluated by CT perfusion (CTP) before the assessments were performed, and the correlations among the performances of the patients on the above tests with the parameters of cerebral blood volume, cerebral blood flow (CBF), mean transit time (MTT), and time-to-peak (TTP) in the frontal lobes of these patients were also analyzed. RESULTS Many aspects of executive function in the patients with MMD were significantly poorer than those in the healthy controls, and the patients performed particularly poorer on the VF test, HSCT, N-back test, and SART. The patients with hemorrhagic MMD exhibited worse executive inhibition, executive processing, and semantic inhibition compared with those with ischemic MMD, but the latter group presented a worse working memory and poorer sustained attention. There were no significant differences in the DEX scores between the patients with MMD and
Barrie, L. A.
During autumn 1984, at a location in central Ontario, a study of the elemental composition of aerosols and precipitation was undertaken to determine the feasibility of making daily multielemental measurements on a routine basin, to probe the potential for gaining insight into pollutant origin from multielemental composition, and to estimate trace element deposition to an acid-sensitive watershed. The concentrations of Ti, Br, Mn, In, Na, V, Al, Ca, Se, As, Sb, Pb, Fe, Mg, Cu, Zn, and Cd in aerosol and of Pb, Mg, Ca, As, Br, I, Mn, and V in precipitation were measurable routinely, using neutron activation, X ray fluorescence, and plasma emission spectroscopy. Standard high volume samplers for total aerosols below 15 μm diameter as well as dichotomous samplers and Andersen impactors for size fractionation were operated simultaneously with two wet-only precipitation collectors. Aerosol data revealed four components: one soil (Mg-Ti-Al-Ca-Fe) and three anthropogenic (Se-Sb-Pb-Cd-Br; Mass-Cu-SO4=; In-As). Ranked in order of increasing mass fraction in 2.1- to 10-μm diameter particles are the elements Pb, S, Se, Br, As, Cl, Na, V, In, Cu, Mn, Al, Ba, Ti, and Ca. A comparison of air parcel origin on high- and low-concentration days, using 3-day back trajectories, revealed major source regions of SO4=, Pb, In, As, and Al. The element In is an excellent tracer of smelter emissions to the north. Although the estimated mean ratio of In/Se in smelter emissions from central Ontario is close to that used in the regional aerosol apportionment model of Rahn and Lowenthal, its variability is greater than they propose. In 21 precipitation events, strong correlations were found between H+-SO4 =, Ca++-Mg++, NO3--NH4+-Cl--V, and Pb-Br. The mass ratio of Br/Pb was higher in precipitation (0.47) than in aerosols (0.27), possibly because of precipitation scavenging of HBr gas in addition to Br in aerosols. In ascending order, the estimated dry-deposited fraction of total deposition of
Onofre, Isabel; Mendonça, Nuno; Lopes, Sara; Nobre, Rui; de Melo, Joana Barbosa; Carreira, Isabel Marques; Januário, Cristina; Gonçalves, António Freire; de Almeida, Luis Pereira
Machado Joseph Disease (MJD) is the most frequent autosomal dominantly inherited cerebellar ataxia caused by the over-repetition of a CAG trinucleotide in the ATXN3 gene. This expansion translates into a polyglutamine tract within the ataxin-3 protein that confers a toxic gain-of-function to the mutant protein ataxin-3, contributing to protein misfolding and intracellular accumulation of aggregates and neuronal degeneration. Autophagy impairment has been shown to be one of the mechanisms that contribute for the MJD phenotype. Here we investigated whether this phenotype was present in patient-derived fibroblasts, a common somatic cell type used in the derivation of induced pluripotent stem cells and subsequent differentiation into neurons, for in vitro disease modeling. We generated and studied adult dermal fibroblasts from 5 MJD patients and 4 healthy individuals and we found that early passage MJD fibroblasts exhibited autophagy impairment with an underlying mechanism of decreased autophagosome production. The overexpression of beclin-1 on MJD fibroblasts reverted partially autophagy impairment by increasing the autophagic flux but failed to increase the levels of autophagosome production. Overall, our results provide a well-characterized MJD fibroblast resource for neurodegenerative disease research and contribute for the understanding of mutant ataxin-3 biology and its molecular consequences. PMID:27328712
Di Paolo, Carlo; Costanzo, G. Damiana; Panti, Fabrizio; Rampello, Alessandro; Falisi, Giovanni; Pilloni, Andrea; Cascone, Piero; Iannetti, Giorgio
Summary The aim of this work was to present data from a large sample of patients with Temporo-Mandibular Disorders (TMD) in order to clarify some aspects of the development of pathological conditions that affect large parts of the population. This preliminary work put in relation, through an epidemiological evaluation, anamnestic and clinical data collected from a sample of 2375 patients affected by TMD. Personal data were provided by questionnaire (age, sex, status, etc.), while clinical data were collected following a specific medical chart compiled in accordance with international criteria for TMD. An analysis of these data clearly showed that there were large quantities of variables involved in these disorders and which occur with a wide variety possible of clinical signs. This complexity, in accordance with the current knowledge that it is not able to clarify the etiology of these disorders, makes intricate both diagnostic then therapeutic aspects. You would find in front of a multi-factorial systemic disease that, interfering with the individual bioavailability, exposes him to the possibility of perceiving noxious stimuli which otherwise would not able to reach the pain threshold. To support this hypothesis is the data founded in this report that showed how many patients suffered, at the same time, by muscle and spinal pain associated to headache, pain that occur with high frequency from the same side. The presence of these painful conditions tends to underestimate the dysfunctional problems even if they occur with greater clinical prevalence. Further research should be carried out to clarify these controversial issues. PMID:23741538
Klingberg, Gunilla; Hagberg, Catharina; Norén, Jörgen G; Nietzsche, Sandor
Ehlers-Danlos syndrome (EDS) is a rare hereditary condition affecting connective tissues and dental hard tissues. Primary enamel and dentine from EDS patients were expected to differ from those of healthy subjects regarding morphology and chemical composition. Forty-seven exfoliated primary teeth from 25 patients with EDS were investigated. Morphology was studied using a polarized light microscope, scanning electron microscope, and X-ray microanalysis. Comparisons were made with 36 primary teeth from 36 healthy patients. Morphological analysis of enamel in EDS teeth showed a high frequency of postnatally hypomineralized enamel and postnatally located incremental lines, whereas dentine was normal in all patients. Chemical analysis could not reveal any differences between EDS and control patients except for lower content of C and a higher Ca/P ratio in the enamel in the EDS teeth, indicating porous enamel. Regarding dentine, EDS teeth had a lower content of C, and a higher content of Ca, P, and O. Ratios for Ca/C and Ca/O were also higher compared with controls. There are several aberrations of booth enamel and dentine in primary teeth from patients with EDS. These could explain the occurrence of both more dental caries and tooth fractures in patients with EDS.
Quintana, Laura; Sierra, Felipe; Silva, Ana; Macadar, Omar
The cyclic enrichment of behavioral repertoires is a common event in seasonal breeders. Breeding males Brachyhypopomus gauderio produce electric organ discharge (EOD) rate modulations called chirps while females respond with interruptions. The electromotor system is commanded by a pacemaker nucleus (PN) which sets the basal rate and produces the rate modulations. We focused on identifying functional, seasonal and sexual differences in this nucleus in correlation to these differences in behavior. The in vivo response to glutamate injection in the PN was seasonal, sexually dimorphic and site specific. Non-breeding adults and breeding females injected in dorsal and ventral sites generated EOD rate increases and interruptions, respectively. Reproductive males added a conspicuous communication signal to this repertoire. They chirped repetitively when we injected glutamate in a very restricted area of the ventral-rostral nucleus, surprisingly one with a low number of relay cell somata. This study shows that the PN is functionally organized in regions in a caudal-rostral axis, besides the previously documented dorsal-ventral division. Functional regions are revealed by seasonal changes that annually provide this nucleus with the cellular mechanisms that allow the bursting activity underlying chirp production, only in males.
Lan, Ping; Li, Wenfeng; Wen, Tuan-Nan; Shiau, Jeng-Yuan; Wu, Yu-Ching; Lin, Wendar; Schmidt, Wolfgang
Iron (Fe) deficiency is a major constraint for plant growth and affects the quality of edible plant parts. To investigate the mechanisms underlying Fe homeostasis in plants, Fe deficiency-induced changes in the protein profile of Arabidopsis (Arabidopsis thaliana) roots were comprehensively analyzed using iTRAQ (Isobaric Tag for Relative and Absolute Quantification) differential liquid chromatography-tandem mass spectrometry on a LTQ-Orbitrap with high-energy collision dissociation. A total of 4,454 proteins were identified with a false discovery rate of less than 1.1%, and 2,882 were reliably quantified. A subset of 101 proteins was differentially expressed upon Fe deficiency. The changes in protein profiles upon Fe deficiency show low congruency with previously reported alterations in transcript levels, indicating posttranscriptional changes, and provide complementary information on Fe deficiency-induced processes. The abundance of proteins involved in the synthesis/regeneration of S-adenosylmethionine, the phenylpropanoid pathway, the response to oxidative stress, and respiration was highly increased by Fe deficiency. Using Fe-responsive proteins as bait, genome-wide fishing for partners with predictable or confirmed interologs revealed that RNA processing and ribonucleoprotein complex assembly may represent critical processes that contribute to the regulation of root responses to Fe deficiency, possibly by biasing translation efficiency. PMID:21173025
Goldman, Devorah C.; Donley, Nathan; Christian, Jan L.
Vertebrate Bmp2 and Bmp4 diverged from a common ancestral gene and encode closely related proteins. Mice homozygous for null mutations in either gene show early embryonic lethality, thereby precluding analysis of shared functions. In the current studies, we present phenotypic analysis of compound mutant mice heterozygous for a null allele of Bmp2 in combination with null or hypomorphic alleles of Bmp4. Whereas mice lacking a single copy of Bmp2 or Bmp4 are viable and have subtle developmental defects, compound mutants show embryonic and postnatal lethality due to defects in multiple organ systems including the allantois, placental vasculature, ventral body wall, skeleton, eye and heart. Within the heart, BMP2 and BMP4 function coordinately to direct normal lengthening of the outflow tract, proper positioning of the outflow vessels, and septation of the atria, ventricle and atrioventricular canal. Our results identify numerous BMP4-dependent developmental processes that are also very sensitive to BMP2 dosage, thus revealing novel functions of Bmp2. PMID:19116164
Motta, Maria Cristina Machado; Martins, Allan Cezar de Azevedo; de Souza, Silvana Sant’Anna; Catta-Preta, Carolina Moura Costa; Silva, Rosane; Klein, Cecilia Coimbra; de Almeida, Luiz Gonzaga Paula; de Lima Cunha, Oberdan; Ciapina, Luciane Prioli; Brocchi, Marcelo; Colabardini, Ana Cristina; de Araujo Lima, Bruna; Machado, Carlos Renato; de Almeida Soares, Célia Maria; Probst, Christian Macagnan; de Menezes, Claudia Beatriz Afonso; Thompson, Claudia Elizabeth; Bartholomeu, Daniella Castanheira; Gradia, Daniela Fiori; Pavoni, Daniela Parada; Grisard, Edmundo C.; Fantinatti-Garboggini, Fabiana; Marchini, Fabricio Klerynton; Rodrigues-Luiz, Gabriela Flávia; Wagner, Glauber; Goldman, Gustavo Henrique; Fietto, Juliana Lopes Rangel; Elias, Maria Carolina; Goldman, Maria Helena S.; Sagot, Marie-France; Pereira, Maristela; Stoco, Patrícia H.; de Mendonça-Neto, Rondon Pessoa; Teixeira, Santuza Maria Ribeiro; Maciel, Talles Eduardo Ferreira; de Oliveira Mendes, Tiago Antônio; Ürményi, Turán P.; de Souza, Wanderley; Schenkman, Sergio; de Vasconcelos, Ana Tereza Ribeiro
Endosymbiont-bearing trypanosomatids have been considered excellent models for the study of cell evolution because the host protozoan co-evolves with an intracellular bacterium in a mutualistic relationship. Such protozoa inhabit a single invertebrate host during their entire life cycle and exhibit special characteristics that group them in a particular phylogenetic cluster of the Trypanosomatidae family, thus classified as monoxenics. In an effort to better understand such symbiotic association, we used DNA pyrosequencing and a reference-guided assembly to generate reads that predicted 16,960 and 12,162 open reading frames (ORFs) in two symbiont-bearing trypanosomatids, Angomonas deanei (previously named as Crithidia deanei) and Strigomonas culicis (first known as Blastocrithidia culicis), respectively. Identification of each ORF was based primarily on TriTrypDB using tblastn, and each ORF was confirmed by employing getorf from EMBOSS and Newbler 2.6 when necessary. The monoxenic organisms revealed conserved housekeeping functions when compared to other trypanosomatids, especially compared with Leishmania major. However, major differences were found in ORFs corresponding to the cytoskeleton, the kinetoplast, and the paraflagellar structure. The monoxenic organisms also contain a large number of genes for cytosolic calpain-like and surface gp63 metalloproteases and a reduced number of compartmentalized cysteine proteases in comparison to other TriTryp organisms, reflecting adaptations to the presence of the symbiont. The assembled bacterial endosymbiont sequences exhibit a high A+T content with a total of 787 and 769 ORFs for the Angomonas deanei and Strigomonas culicis endosymbionts, respectively, and indicate that these organisms hold a common ancestor related to the Alcaligenaceae family. Importantly, both symbionts contain enzymes that complement essential host cell biosynthetic pathways, such as those for amino acid, lipid and purine/pyrimidine metabolism
De Souza, Colin P.; Hashmi, Shahr B.; Osmani, Aysha H.; Osmani, Stephen A.
Filamentous fungi occupy critical environmental niches and have numerous beneficial industrial applications but devastating effects as pathogens and agents of food spoilage. As regulators of essentially all biological processes protein kinases have been intensively studied but how they regulate the often unique biology of filamentous fungi is not completely understood. Significant understanding of filamentous fungal biology has come from the study of the model organism Aspergillus nidulans using a combination of molecular genetics, biochemistry, cell biology and genomic approaches. Here we describe dual localization-affinity purification (DLAP) tags enabling endogenous N or C-terminal protein tagging for localization and biochemical studies in A. nidulans. To establish DLAP tag utility we endogenously tagged 17 protein kinases for analysis by live cell imaging and affinity purification. Proteomic analysis of purifications by mass spectrometry confirmed association of the CotA and NimXCdk1 kinases with known binding partners and verified a predicted interaction of the SldABub1/R1 spindle assembly checkpoint kinase with SldBBub3. We demonstrate that the single TOR kinase of A. nidulans locates to vacuoles and vesicles, suggesting that the function of endomembranes as major TOR cellular hubs is conserved in filamentous fungi. Comparative analysis revealed 7 kinases with mitotic specific locations including An-Cdc7 which unexpectedly located to mitotic spindle pole bodies (SPBs), the first such localization described for this family of DNA replication kinases. We show that the SepH septation kinase locates to SPBs specifically in the basal region of apical cells in a biphasic manner during mitosis and again during septation. This results in gradients of SepH between G1 SPBs which shift along hyphae as each septum forms. We propose that SepH regulates the septation initiation network (SIN) specifically at SPBs in the basal region of G1 cells and that localized gradients
Arthropods show two kinds of developmental mode. In the so-called long germ developmental mode (as exemplified by the fly Drosophila), all segments are formed almost simultaneously from a preexisting field of cells. In contrast, in the so-called short germ developmental mode (as exemplified by the vast majority of arthropods), only the anterior segments are patterned similarly as in Drosophila, and posterior segments are added in a single or double segmental periodicity from a posterior segment addition zone (SAZ). The addition of segments from the SAZ is controlled by dynamic waves of gene activity. Recent studies on a spider have revealed that a similar dynamic process, involving expression of the segment polarity gene (SPG) hedgehog (hh), is involved in the formation of the anterior head segments. The present study shows that in the myriapod Glomeris marginata the early expression of hh is also in a broad anterior domain, but this domain corresponds only to the ocular and antennal segment. It does not, like in spiders, represent expression in the posterior adjacent segment. In contrast, the anterior hh pattern is conserved in Glomeris and insects. All investigated myriapod SPGs and associated factors are expressed with delay in the premandibular (tritocerebral) segment. This delay is exclusively found in insects and myriapods, but not in chelicerates, crustaceans and onychophorans. Therefore, it may represent a synapomorphy uniting insects and myriapods (Atelocerata hypothesis), contradicting the leading opinion that suggests a sister relationship of crustaceans and insects (Pancrustacea hypothesis). In Glomeris embryos, the SPG engrailed is first expressed in the mandibular segment. This feature is conserved in representatives of all arthropod classes suggesting that the mandibular segment may have a special function in anterior patterning.
Frazão, Cecília Maria Farias de Queiroz; de Sá, Jéssica Dantas; Medeiros, Ana Beatriz de Almeida; Fernandes, Maria Isabel da Conceição Dias; Lira, Ana Luisa Brandão de Carvalho; Lopes, Marcos Venícios de Oliveira
OBJECTIVES: to identify adaptation problems under Roy's Model in patients undergoing hemodialysis and to correlate them with the socioeconomic and clinical aspects. METHOD: a transversal study, undertaken using a questionnaire. The sample was made up of 178 individuals. The Chi-squared and Mann-Whitney U tests were undertaken. RESULTS: the adaptation problems and the socioeconomic and clinical aspects which presented statistical associations were: Hyperkalemia and age; Edema and income; Impairment of a primary sense: touch and income; Role failure and age; Sexual dysfunction and marital status and sex; Impairment of a primary sense: vision and years of education; Intolerance to activity and years of education; Chronic pain and sex and years of education; Impaired skin integrity and age: Hypocalcemia and access; Potential for injury and age and years of education; Nutrition below the organism's requirements and age; Impairment of a primary sense: hearing and sex and kinetic evaluation of urea; Mobility in gait and/or coordination restricted, and months of hemodialysis; and, Loss of ability for self-care, and months of hemodialysis and months of illness. CONCLUSION: adaptation problems in the clientele undergoing hemodialysis can be influenced by socioeconomic/clinical data. These findings contribute to the development of the profession, fostering the nurse's reflection regarding the care. PMID:25591091
Nielsen, Signe M.; Nørskov-Lauritsen, Niels; Bjarnsholt, Thomas; Meyer, Rikke L.
Achromobacter species have attracted attention as emerging pathogens in cystic fibrosis. The clinical significance of Achromobacter infection is not yet fully elucidated; however, their intrinsic resistance to antimicrobials and ability to form biofilms renders them capable of establishing long-term chronic infections. Still, many aspects of Achromobacter biofilm formation remain uncharacterized. In this study, we characterized biofilm formation in clinical isolates of Achromobacter and investigated the effect of challenging the biofilm with antimicrobials and/or enzymes targeting the extracellular matrix. In vitro biofilm growth and subsequent visualization by confocal microscopy revealed distinctly different biofilm morphotypes: a surface-attached biofilm morphotype of small aggregates and an unattached biofilm morphotype of large suspended aggregates. Aggregates consistent with our in vitro findings were visualized in sputum samples from cystic fibrosis patients using an Achromobacter specific peptide nucleic acid fluorescence in situ hybridization (PNA-FISH) probe, confirming the presence of Achromobacter biofilms in the CF lung. High antibiotic tolerance was associated with the biofilm phenotype, and biocidal antibiotic concentrations were up to 1000 fold higher than for planktonic cultures. Treatment with DNase or subtilisin partially dispersed the biofilm and reduced the tolerance to specific antimicrobials, paving the way for further research into using dispersal mechanisms to improve treatment strategies. PMID:27681927
Nielsen, Signe M; Nørskov-Lauritsen, Niels; Bjarnsholt, Thomas; Meyer, Rikke L
Achromobacter species have attracted attention as emerging pathogens in cystic fibrosis. The clinical significance of Achromobacter infection is not yet fully elucidated; however, their intrinsic resistance to antimicrobials and ability to form biofilms renders them capable of establishing long-term chronic infections. Still, many aspects of Achromobacter biofilm formation remain uncharacterized. In this study, we characterized biofilm formation in clinical isolates of Achromobacter and investigated the effect of challenging the biofilm with antimicrobials and/or enzymes targeting the extracellular matrix. In vitro biofilm growth and subsequent visualization by confocal microscopy revealed distinctly different biofilm morphotypes: a surface-attached biofilm morphotype of small aggregates and an unattached biofilm morphotype of large suspended aggregates. Aggregates consistent with our in vitro findings were visualized in sputum samples from cystic fibrosis patients using an Achromobacter specific peptide nucleic acid fluorescence in situ hybridization (PNA-FISH) probe, confirming the presence of Achromobacter biofilms in the CF lung. High antibiotic tolerance was associated with the biofilm phenotype, and biocidal antibiotic concentrations were up to 1000 fold higher than for planktonic cultures. Treatment with DNase or subtilisin partially dispersed the biofilm and reduced the tolerance to specific antimicrobials, paving the way for further research into using dispersal mechanisms to improve treatment strategies.
Potthoff, S A; Münch, H G
Iron deficiency often occurs in patients with chronic kidney disease and can be effectively treated with parenteral supplementation of iron. In these patients, prompt application of iron therapy can help to reduce the dependence of erythropoietin-stimulating agents and effectively treat anemia. Correct evaluation of iron metabolism in CKD patients can be difficult. Duration of and response to therapy should always be considered while planning parenteral supplementation of iron. The main safety aspects of parenteral iron preparations relate to their possible anaphylactic potential and the potential induction of oxidative stress due to the release of free iron. However, parenteral iron supplementation is usually safe and without major side effects. Regarding current data, none of the iron preparations is showing definitive superiority. Although uncommon, iron preparations containing dextran can lead to severe side effects, therefore these preparations appear to have an inferior safety profile. Due to limited data, a comparison of third-generation iron preparations with previous preparations is not possible. Recently, for the first time, the third generation iron preparation ferumoxytol has been directly compared to iron sucrose. From this data and others, it remains unclear whether third generation iron preparations show safety-relevant superiority.
Luccas, F J; Lopes, J A; Plastino, F R; Knobel, E
Noninvasive sensory evoked potentials (SEP) performed at bedside in the Intensive Care Unit for patients in coma can be helpful in establishing both a diagnosis and a prognosis. Based on a more than 6-year experience on this subject, the authors discuss general aspects concerning these EP, their probable known generators, and propose a classification depicting different aspects observed for flash visual EP (F-VEP), brainstem auditory EP (BAEP), and median nerve somato-sensory EP (SSEP). Isolated, SSEP shows the best diagnostic and prognostic performance. Nevertheless, the authors consider that multimodality SEP are even better than any isolated EP study; cross-correlating information generated through a horizontal (F-VEP), a vertical (SSEP), and a pathway focusing brainstem in greater detail (BAEP) allows the neurophysiological establishment of the level of lesion in the CNS from a better perspective; besides, SEP can help setting the diagnosis of brain (encephalic) death, and the diagnosis of particular problems concerning each pathway. Notwithstanding, most important is prognosis definition, and the findings are summarized. Abnormal BAEP implies bad prognosis, as would be expected considering the severity of a brainstem lesion; on the other hand, a normal BAEP per se does not allow a precise definition, resting on other EP the role prognosis characterization. SSEP if bilaterally normal or only mildly abnormal imply good prognosis; bilateral absence of SSEP thalamo-cortical components has always carried a bad prognosis, since younger patients may at best evolve into a persistent vegetative state; SSEP intermediary results are more often accompanied by variable evolution. FVEP results parallel those of SSEP.
Phosphate control is still a great challenge in chronic kidney disease (CKD), and in spite of the great improvements in dialysis techniques, achievement of the goals for mineral metabolism control is still far from ideal. Aluminum hydroxide has been largely abandoned due to the high risk of aluminum toxicity, while the use of calcium-based phosphate binders may cause hypercalcemia, overzealous parathyroid suppression, and extraskeletal calcification. Sevelamer hydrochloride has been introduced as an efficient medication for phosphate control, with a lower risk of hypercalcemia and parathyroid suppression. Various clinical trials have compared the risk of vascular calcification between sevelamer and calcium salts with inconsistent results. In spite of these inconsistencies, the Kidney Disease Outcomes Quality Initiative (KDOQI) suggests non-calcium phosphate binders as the preferred phosphate binder in dialysis patients with severe vascular and/or other soft-tissue calcifications and in those with hypercalcemia or parathyroid hormone (PTH) <150 mg/dL. The Kidney Disease Improving Global Outcome (KDIGO) limits the use of non-calcium phosphate binders to patients with hypercalcemia. Regarding the effect on mortality, the results of clinical trials are again inconsistent. The other important aspect of using sevelamer is the issue of price, which is substantially higher than calcium-based phosphate binders. Reviewing the studies on economic aspects shows that sevelamer increases quality-adjusted life-years (QALY) and possibly life years, with a higher cost compared to calcium-based phosphate binders. In conclusion, sevelamer is a very useful drug for phosphate control, reduction of hypercalcemia, and lessening the risk of adynamic bone disease, with probable reduction in vascular calcification and possible reduction in mortality rate. It has a higher economic burden on health care systems compared to calcium-based phosphate binders. This may affect its extensive use
Psychologic factors were studied in 10 patients with symptoms presumed to be caused by electricity (EG) and in 10 patients with symptoms presumed to be caused by visual display units (VG) and compared with a sex- and age-matched control group (CG). Psychologic differences between the EG and VG were also measured. The symptoms presumed to be caused by electricity or visual display units were registered, and the personality, psychologic functioning, and quality of life were determined by using the Karolinska Scales of Personality (KSP), an additional Personality Scale (PS), a Psychological Functioning Scale (PFS), and a quality of Life Scale (QLS). The results showed that the commonest general symptoms in the EG/VG were skin complaints, fatigue, pain, and dizziness, and the commonest oral symptoms were gustatory disturbance, burning mouth, and temporomandibular joint dysfunction. The patients in the EG described more different types of both general and oral symptoms than those in the VG. The result showed that the VG scored significantly higher only in the KSP Somatic Anxiety and Muscular Tension scales, and the EG scored significantly lower in the KSP Socialization scale and significantly higher in the Somatic Anxiety, Muscular Tension, and Psychasthenia scales. In addition, only the EG differed significantly on the PS, PFS, and QLS. The EG differed significantly in such psychologic aspects as being more fatigued in the PS, in having more difficulty in concentrating, in taking the initiative, and in getting on with people in the PFS and experiencing inactivity and visiting other people rarely in the QLS. The conclusion was that patients with symptoms presumed to be caused by electricity and visual display units differed from each other psychologically and, therefore, should be handled clinically in different ways. The need for an interdisciplinary approach to these patients is emphasized.
Foroughan, Mahshid; Delbari, Ahmad; Said, Said Ebn; AkbariKamrani, Ahmad Ali; Rashedi, Vahid; Zandi, Taher
Recognition of the risk factors of delirium has been clearly advantageous in preventing and managing it as it occurs. The main aims of this study were to investigate the occurrence of delirium and identify the associated risk factors in a sample of hospitalized elderly in Southwestern Iran. A cross-sectional, hospital-based study was performed on a total of 200 elderly patients, admitted to a general hospital for various health reasons. Data were gathered over a 3-month period of time in 2010. Abbreviated Mental Test score (AMTs) used for delirium detection in post-admission days 1, 3, and 5, followed by clinical diagnostic confirmation according to the DSM-IV-TR criteria for delirium. Information regarding physical, cognitive, emotional, and functional states of the participants was collected, too. Delirium developed in 22 % of the participants. The demographic characteristics of the patients with delirium indicated that they were typically single, older men who lived alone and had a lower level of education and poorer functional status. Among other variables, the following were significantly associated with delirium: hemoglobin ≤12 (P < 0.001); Blood urea nitrogen/creatinine ratio ≥1/20 (P < 0.005); and positive C-reactive protein (P = 0.022); depressive symptoms (P < 0.001), and previous cognitive decline (P < 0.001). Patients with more than six different categories of medications were at high risk for delirium as well. Delirium is a serious and common problem in people over 60 years of age who are admitted to hospitals. Understanding risk factors and clinical aspects of delirium in elderly hospitalized patients will provide us with a better delirium management strategy.
Carrari, Fernando; Baxter, Charles; Usadel, Björn; Urbanczyk-Wochniak, Ewa; Zanor, Maria-Ines; Nunes-Nesi, Adriano; Nikiforova, Victoria; Centero, Danilo; Ratzka, Antje; Pauly, Markus; Sweetlove, Lee J.; Fernie, Alisdair R.
Tomato (Solanum lycopersicum) is a well-studied model of fleshy fruit development and ripening. Tomato fruit development is well understood from a hormonal-regulatory perspective, and developmental changes in pigment and cell wall metabolism are also well characterized. However, more general aspects of metabolic change during fruit development have not been studied despite the importance of metabolism in the context of final composition of the ripe fruit. In this study, we quantified the abundance of a broad range of metabolites by gas chromatography-mass spectrometry, analyzed a number of the principal metabolic fluxes, and in parallel analyzed transcriptomic changes during tomato fruit development. Metabolic profiling revealed pronounced shifts in the abundance of metabolites of both primary and secondary metabolism during development. The metabolite changes were reflected in the flux analysis that revealed a general decrease in metabolic activity during ripening. However, there were several distinct patterns of metabolite profile, and statistical analysis demonstrated that metabolites in the same (or closely related) pathways changed in abundance in a coordinated manner, indicating a tight regulation of metabolic activity. The metabolite data alone allowed investigations of likely routes through the metabolic network, and, as an example, we analyze the operational feasibility of different pathways of ascorbate synthesis. When combined with the transcriptomic data, several aspects of the regulation of metabolism during fruit ripening were revealed. First, it was apparent that transcript abundance was less strictly coordinated by functional group than metabolite abundance, suggesting that posttranslational mechanisms dominate metabolic regulation. Nevertheless, there were some correlations between specific transcripts and metabolites, and several novel associations were identified that could provide potential targets for manipulation of fruit compositional traits
Boldorini, R; Vago, L; Lechi, A; Tedeschi, F; Trabattoni, G R
Wernicke encephalopathy (WE), acute (microhaemorrhages) and chronic (proliferation of capillaries) is actually considered as a not uncommon, and curable, condition in several diseases, and not only in alcoholic patients. Why serotoninergic nuclei, and whether blood brain barrier (BB) are involved were our questions. In a dramatic series of AIDS cases we selected 380 brains, all belonging to drug addicted subjects. In all Thiamine administration had been under 20 mg pro die and by oral way. In the cases considered, opportunistic infections were present in the 40%, and/or HIV specificity in the 35%. "Acute" WE was found in nearly the 10%. All patients presented with CNS lesions, other than those of WE, but HIV specificity was found only in 5. They all showed changes in Choroid Plexus, namely alterations of various type of the cuboid epithelium, such as swelling, disruption, hyperplasia. WE is set in connection with pyruvate accumulation at capillary level, likely bound to the Thiamine deficiency and to the lack of energy thus induced. Apart from obvious haemorrhagic aspects, CFS studies in WE are lacking. Choroid structure is not merely a permeable membrane (CSF is not a filtrate). Our findings would suggest that Thiamine plays a role in the energy supply to BB. Moreover, the existence of free nerve endings through the ependyma for the release and uptake of monoamines, allows to consider the elective involvement of serotoninergic neurons as somehow connected to the choroid plexus changes described.
Järvholm, Stina; Johannesson, Liza; Brännström, Mats
Uterus transplantation is a treatment of uterine factor infertility. It raises questions of psychological aspects and well-being among the participants, which is of great importance as this is a new type of a major surgical procedure. This commentary focuses on the psychology surrounding this novel type of transplantation and the importance of patient selection. In addition, psychological aspects of events during the first postoperative year and the follow-up are discussed.
The largest and most comprehensive genomic analysis of individuals with Ewing sarcoma performed to date reveals that some patients are genetically predisposed to developing the cancer. Learn more...
Minushkina, L O; Zateĭshchikova, A A; Zateĭshchikov, D A; Mankhaeva, B B; Savel'eva, E G; Kochkina, M S; Brovkin, A V; Nikitin, A G; Nosikov, V V; Sidorenko, B A
Association of polymorphism of b1-adrenoreceptors gene and cytochrome 2D6 gene with efficacy of b-adrenoblocker betaxolol was studied in 81 patients with I and II degree arterial hypertension. Betaxolol (10-20 mg/day) was given for 4 weeks, its efficacy was assessed by office blood pressure (BP) measurements, 24-hour BP and ECG monitoring and standard exercise test. At the end of the study significant lowering of systolic and diastolic BP was noted by 11,8 +/- 2,47 (p=0,001) and 7,8 +/- 1,68 mm Hg (p=0,001), respectively. Heart rate (HR) at rest lowered by 19,8 +/- 1,96 beats/min (p=0,0001). At analysis of individual reaction of patients to treatment with betaxolol it turned out that decrease of BP and HR was variable, but their distribution in the group did not differ significantly from normal. Hypotensive activity and influence on HR were confirmed by results of all instrumental investigations. No significant differences were revealed in dynamics of systolic and diastolic BP both at rest and at effort between patients with different genotypes of polymorphic marker Gly389Arg of ADRB1 gene. Compared with carriers of genotype Ser/Ser carriers of genotype Ser/Pro of polymorphic marker Pro34Ser of Cyp2D6 gene had significantly more pronounced decrease of HR at the background of treatment with betaxolol: - 32,6 +/- 4,77 and - 18,4 +/- 2,01 beats/min (p=0,023) at rest and - 30,1 +/- 3,05 and - 24,0 +/- 2,59 beats/min (p=0,043) at maximal exercise, respectively. These patients had also more pronounced lowering of diastolic BP at maximal work load and more pronounced increase of exercise duration at the background of treatment. Thus efficacy of betaxolol in patients with hypertension was associated solely with genotype of polymorphic marker Ser34Pro of CYP2D6 gene. In patients having in genotype Pro allele of polymorphic marker Pro34Ser of CYP2D6 gene therapy with betaxolol is more effective, than in homozygote carriers of Ser allele. This can be related to low rate of
Kosztyła-Hojna, Bożena; Andrzejewska, Anna; Moskal, Diana; Kasperuk, Joanna; Falkowski, Dawid; Rogowski, Marek
Vocal folds play a crucial role in voice production. The physiological vibrations of vocal folds depend on the unchanged multilayered structure of the vocal folds mucosa. Morphological changes of mucosa are the cause of voice quality disorders - dysphonia. The aim of this study was to determine the morphological base of dysphonia in patients with vocal folds atrophy. A group of 24 patients with larynx atrophy confirmed by endoscopic (VLS) and stroboscopic (VLSS) examination of the larynx was included in the study. The morphological assessment of the larynx mucosa was carried out with the use of the transmission electron microscopy (TEM). Ultramorphological examinations revealed changes in the epithelium, basal membrane and lamina propria of the vocal folds mucosa. An increased number of collagenous fibers, fibroblasts with signs of vacuolar degeneration inflammatory cells and a decreased number of blood vessels and pericytes were observed. Morphological changes found in the epithelium, basal membrane and lamina propria of the vocal folds mucosa were the cause of disorders of vocal folds vibrations registered in the stroboscopic examination of the larynx (VLSS).
Brusov, O S; Dikaia, V I; Zlobina, G P; Faktor, M I; Pavlova, O A; Bologov, P V; Korenev, A N
45 women with different manifestations of schizoaffective psychosis (SAP) were examined. The diagnosis corresponded to ICD-10 (F25). According to the classification elaborated in Mental Health Research Centre of Russian Academy of Medical Sciences, groups of patients were identified with different variants of the psychoses course: a nuclear SAP type; a borderline SAP variation with phasic-recurrent course; SAP with progredient variation (schizoaffective variation of schizophrenia). The patients were examined both during the attack and remission. A rate of serotonine uptake (Vmax) in blood platelets, a specific imipramine binding (Bmax) and the level of serotonin in blood platelets were evaluated. It was found that dynamics of both Vmax and the level of serotonin in different SAP types were different, that was related to clinical and biological SAP heterogeneity. A tendency to decreasing of serotonin system functional activity was found in progredient SAP variations, especially during the remission, which was of low quality in these cases. On the contrary, in the borderline variations the indices of the decreased function of serotonin system corresponded well to those of acute psychosis. In nuclear type--a type with the most favourable course of psychosis--any significant changes weren't revealed as compared with the normal parameters.
Fariello, Roberta Maria; Pariz, Juliana Risso; Spaine, Deborah Montagnini; Gozzo, Fábio César; Pilau, Eduardo Jorge; Fraietta, Renato; Bertolla, Ricardo Pimenta; Andreoni, Cassio; Cedenho, Agnaldo Pereira
What are the effects of smoking on the functional aspects of the sperm, the levels of lipid peroxidation and the protein profile of seminal plasma in patients with varicocele? In men with varicocele, smoking is associated with altered semen quality, decreased sperm functional integrity and seminal oxidative stress. Alterations in seminal plasma protein profiles are also present and may explain the altered semen phenotype. Varicocele is a major cause of male infertility. It reduces testicular blood renewal with a consequent accumulation of toxic substances. Thus, it can potentiate the toxic effects of environmental exposure to genotoxic substances such as those found in cigarette smoke. A cross-sectional study was performed in 110 patients presenting with variococele to the Human Reproduction Section of the Sao Paulo Federal University (2006-2010). The patients were divided into a control group of non-smokers, a moderate smokers group and a heavy smokers group. Semen parameters were analysed by standard methods. Sperm DNA integrity and mitochondrial activity were assessed by Comet assays and by 3,3'-diaminobenzidine deposition, respectively. The level of lipid peroxidation in semen was determined by malondialdehyde quantification. Proteomic studies were performed by 2D-electrophoresis and mass spectrometry. Both groups of smokers showed reduced semen quality in comparison with the control group. In the groups of smokers, sperm DNA integrity and mitochondrial activity were also decreased and lipid peroxidation levels were increased. Proteomic analyses revealed 20 proteins differentially expressed between the study groups. A study including smokers without varicocele is still warranted as these results apply only to smokers who present varicocele. Patients with varicocele who are exposed to tobacco smoking present more important alterations to semen quality and sperm functional integrity and show changes in the seminal plasma proteome. This suggests testicular, and
Shalev, Nir; Humphreys, Glyn; Demeyere, Nele
Temporal dynamics of attention have been in the spotlight of research since the earliest days of cognitive psychology. Typically, researchers describe two different aspects of the temporal fluctuations of attention: one is in intervals of milliseconds (phasic alertness), and the other over minutes or even hours (tonic alertness or sustained attention). In order to evaluate individual capacities for sustained attention and phasic alertness, most studies rely on variations of the Continuous Performance Task (CPT). Indices of sustained attention and phasic alertness are typically based on reaction times to targets; phasic alertness is related to the change in reaction times following a cue, and sustained attention is related to variability of reaction times during the task. In the following study, we attempted to establish a new approach for studying sustained attention and phasic alertness, not reliant solely on reaction time measures. We developed a new variation of the CPT with conjunctive feature targets and forward and backward masking to induce a higher variability in accuracy. This allowed us to assess an individual's ability to maintain the same level of sensitivity to targets (d-prime) across a ten minute period on the task as an index for sustained attention. We also assessed reaction times as a function of previous trial type, and suggest previous trial RT benefit might be a marker for an individual's phasic alertness. We demonstrated the use of this task with healthy aging controls and stroke survivors. As a demonstration of external validity of the novel paradigm, we present a correlation between how individual performance drops over time and individual reports of distractibility in everyday life on the Cognitive Failures Questionnaire. In addition, we found significant differences between the patient and control groups in our proposed marker of phasic alertness. We discuss the implications of our study for current assessment tools, as well as general
Yang, Can-Chao; Cai, Yan; Liang, Wei
Brood parasitism and egg mimicry of Himalayan Cuckoo (Cuculus saturatus) on its host Blyth's Leaf Warbler (Phylloscopus reguloides) were studied in south-western China from April to July 2009. The cuckoo laid a white egg with fine brown markings on the blunt end. The eggs were conspicuously bigger than the host's own, with 2.06 g in mass and 1.91 cm(3) in volume. Visual modeling showed that the cuckoo eggs, which from the human eye appeared to mimic the host eggs to a great extent, were completely different from the host eggs in both hue and chroma. The characters of the Himalayan Cuckoo nestling, reported for the first time, included two triangular and black patches on its gape, which appeared from four days old and became darker with age and growth. While this character also exists in nestlings of Oriental Cuckoo (C. optatus), it has not been found for other Cuculus species. Our results reveal cryptic aspects in the cuckoo-host egg color matching, which are not visible to the naked human eye, and indicate that high mimetic cuckoo eggs rejected by hosts, as determined by human observers in previous studies, might not be mimetic as birds see them.
Mokin, Maxim; Primiani, Christopher T; Siddiqui, Adnan H; Turk, Aquilla S
The ASPECTS (Alberta Stroke Program Early CT Score) is a quantitate score that measures the extent of early ischemic changes. Our aim was to investigate how measurement of ASPECTS using Hounsfield unit (HU) values on initial noncontrast head computerized tomography (CT) correlates with the extent of final infarct on follow-up imaging. Cases of acute stroke from the middle cerebral artery M1 occlusion in which complete recanalization (TICI [Thrombolysis in Cerebral Infarction] 3) was achieved were included for analysis. Using HU ratio (HU affected/HU control hemisphere) and HU difference (HU control-HU affected hemisphere) values, ASPECTS was measured on initial CT imaging and correlated with final ASPECTS at 24 hours. The study cohort consisted of 41 patients with acute stroke from the M1 occlusion. The mean time from stroke symptoms onset to baseline head CT imaging was 264 minutes and from CT to TICI 3 recanalization was 142 minutes. HU ratio within the 0.94 to 0.96 ranges showed the highest correlation coefficient and lowest mean and median errors with the final ASPECTS. The difference of 2.0 HU between the 2 hemispheres demonstrated the higher correlation coefficient (r=0.71; P<0.0001) and the lowest mean and median absolute errors (1.4 and 1, respectively). We established a simple algorithm for rapid and accurate assessment of ASPECTS on baseline CT imaging to predict the extent of final stroke in patients with emergent large vessel occlusion who undergo endovascular revascularization. © 2017 American Heart Association, Inc.
Al-Swiahb, Jamil Nasser; Hwang, Eul Seung; Kong, Ji Sun; Kim, Woo Jin; Yeo, Sang Won; Park, Shi Nae
This study was performed to analyze clinical and audiologic characteristics of sensorineural tinnitus and to investigate the associating factors reflecting psychological aspects of stress and depression of the patients. This is a retrospective analytical study conducted in a tinnitus clinic of a tertiary referral center of a university hospital. The medical records of 216 patients suffering from sensorineural tinnitus were thoroughly evaluated to determine correlations between clinical and audiological characteristics, including age, sex, predisposing or etiologic factors, hearing levels up to extended high frequencies, and tinnitus severity. Psychological aspects of stress and depression were also evaluated and analyzed to seek the associations with tinnitus severity. All data were stored in our database bank and were statistically analyzed. Our study subjects showed a slight male predominance. The highest percentage of tinnitus was found in patients of 60-80 years old. Only 32.5 % of tinnitus patients were subjectively aware of their hearing loss, whereas 73 % of subjects had hearing deficits in some frequencies in their audiogram. Hearing impairments were of the low-frequency sensorineural type in 18.2 % of patients and were limited to the high frequencies in 77.9 % of patients. Tinnitus was unilateral in 51 % of patients and had a tonal nature in 45 % of patients. In total, 45.8 % of patients with high-frequency sensorineural hearing loss had high-pitched tinnitus. There were significant correlations between tinnitus severity, loudness and annoyance. Correlations with THI (Tinnitus Handicap Inventory) and Beck depression index scores were also found. Sensorineural tinnitus was related with hearing loss in some frequencies nevertheless of patients' own awareness of hearing loss. Loudness and annoyance of tinnitus seems to be two important factors reflecting psychological problems of patients' stress and depression.
Crönlein, Tatjana; Geisler, Peter; Langguth, Berthold; Eichhammer, Peter; Jara, Cecilia; Pieh, Christoph; Zulley, Jürgen; Hajak, Göran
It is a matter of debate whether patients with primary insomnia require a polysomnographic examination in order to exclude specific sleep disorders such as sleep apnea syndrome (SAS) or periodic limb movements (PLM). Using a prospective design, we investigated the prevalence of organic sleep disorders by means of polysomnography (PSG) in a series of patients who were previously diagnosed with primary insomnia. This diagnosis was based on a clinical exam and an ambulatory monitoring device or previous PSG. Seventy-seven women and 16 men (mean age 55.12 ± 13.21 years) who were admitted for cognitive behavioral therapy for insomnia were evaluated by PSG including cardiorespiratory parameters and tibialis EMG. Among them, 50 patients had undergone a clinical exam by a sleep specialist; in 18 patients, actigraphy or portable monitoring had been performed to exclude SAS or PLM; 25 patients had undergone PSG in another sleep lab previously. In 32 patients (34% of the sample), a PSG revealed a specific sleep disorder (SAS 16; PLMD 11; both 5), resulting in therapeutic consequences for 21 patients (SAS 10; PLMD 9; both 2). SAS and PLM patients were older and SAS patients had a higher body mass index than insomnia patients without additional findings. Indications for a PSG should be handled less restrictively in the diagnostic workup of older insomnia patients since they have a higher risk of comorbid sleep disorders even in the absence of the clinical signs of SAS or PLM.
Waldmann, Uta-Maria; Gulich, Markus Sebastian; Zeitler, Hans-Peter
A case-based online assessment tool has been accomplished at the University of Ulm by simulating consultations with virtual patients in General Practice setting. After a successful pilot study, more data on validity were needed as one important step when considering introducing this assessment format to replace the regular written course exam. Five distinct sources of validity evidence are addressed: content, response process, internal structure, relationship to other variables and consequences. An examination simulation was conducted including all students (147) of the General Practice course, scores of three virtual patient cases compared with the written course exam and data gathered regarding usability, acceptance, content and structural characteristics, and consequences. All five aspects were supported by collected data. Correlation to the written exam was moderate with r = 0.36, correlation between the cases higher with r = 0.50-0.56. Although a direct comparison of written course exams and dealing with virtual patients is difficult in many aspects and the study setting as an exam simulation caused confounders, this new assessment format is supported by many aspects of validity evidence. Solving virtual clinical scenarios addresses other abilities, skills and knowledge than traditional written exams and since "assessment drives learning" it could have positive implications on teaching and learning alike.
Gelb, B D; Willner, J P; Dunn, T M; Kardon, N B; Verloes, A; Poncin, J; Desnick, R J
Molecular analysis of a patient affected by the autosomal recessive skeletal dysplasia, pycnodysostosis (cathepsin K deficiency; MIM 265800), revealed homozygosity for a novel missense mutation (A277V). Since the A277V mutation was carried by the patient's father but not by his mother, who had two normal cathepsin K alleles, paternal uniparental disomy was suspected. Karyotyping of the patient and of both parents was normal, and high-resolution cytogenetic analyses of chromosome 1, to which cathepsin K is mapped, revealed no abnormalities. Evaluation of polymorphic DNA markers spanning chromosome 1 demonstrated that the patient had inherited two paternal chromosome 1 homologues, whereas alleles for markers from other chromosomes were inherited in a Mendelian fashion. The patient was homoallelic for informative markers mapping near the chromosome 1 centromere, but he was heteroallelic for markers near both telomeres, establishing that the paternal uniparental disomy with partial isodisomy was caused by a meiosis II nondisjunction event. Phenotypically, the patient had normal birth height and weight, had normal psychomotor development at age 7 years, and had only the usual features of pycnodysostosis. This patient represents the first case of paternal uniparental disomy of chromosome 1 and provides conclusive evidence that paternally derived genes on human chromosome 1 are not imprinted. PMID:9529353
Lu, Haifeng; Ren, Zhigang; Li, Ang; Zhang, Hua; Jiang, Jianwen; Xu, Shaoyan; Luo, Qixia; Zhou, Kai; Sun, Xiaoli; Zheng, Shusen; Li, Lanjuan
Liver carcinoma (LC) is a common malignancy worldwide, associated with high morbidity and mortality. Characterizing microbiome profiles of tongue coat may provide useful insights and potential diagnostic marker for LC patients. Herein, we are the first time to investigate tongue coat microbiome of LC patients with cirrhosis based on 16S ribosomal RNA (rRNA) gene sequencing. After strict inclusion and exclusion criteria, 35 early LC patients with cirrhosis and 25 matched healthy subjects were enrolled. Microbiome diversity of tongue coat in LC patients was significantly increased shown by Shannon, Simpson and Chao 1 indexes. Microbiome on tongue coat was significantly distinguished LC patients from healthy subjects by principal component analysis. Tongue coat microbial profiles represented 38 operational taxonomic units assigned to 23 different genera, distinguishing LC patients. Linear discriminant analysis (LDA) effect size (LEfSe) reveals significant microbial dysbiosis of tongue coats in LC patients. Strikingly, Oribacterium and Fusobacterium could distinguish LC patients from healthy subjects. LEfSe outputs show microbial gene functions related to categories of nickel/iron_transport, amino_acid_transport, energy produced system and metabolism between LC patients and healthy subjects. These findings firstly identify microbiota dysbiosis of tongue coat in LC patients, may providing novel and non-invasive potential diagnostic biomarker of LC.
Lu, Haifeng; Ren, Zhigang; Li, Ang; Zhang, Hua; Jiang, Jianwen; Xu, Shaoyan; Luo, Qixia; Zhou, Kai; Sun, Xiaoli; Zheng, Shusen; Li, Lanjuan
Liver carcinoma (LC) is a common malignancy worldwide, associated with high morbidity and mortality. Characterizing microbiome profiles of tongue coat may provide useful insights and potential diagnostic marker for LC patients. Herein, we are the first time to investigate tongue coat microbiome of LC patients with cirrhosis based on 16S ribosomal RNA (rRNA) gene sequencing. After strict inclusion and exclusion criteria, 35 early LC patients with cirrhosis and 25 matched healthy subjects were enrolled. Microbiome diversity of tongue coat in LC patients was significantly increased shown by Shannon, Simpson and Chao 1 indexes. Microbiome on tongue coat was significantly distinguished LC patients from healthy subjects by principal component analysis. Tongue coat microbial profiles represented 38 operational taxonomic units assigned to 23 different genera, distinguishing LC patients. Linear discriminant analysis (LDA) effect size (LEfSe) reveals significant microbial dysbiosis of tongue coats in LC patients. Strikingly, Oribacterium and Fusobacterium could distinguish LC patients from healthy subjects. LEfSe outputs show microbial gene functions related to categories of nickel/iron_transport, amino_acid_transport, energy produced system and metabolism between LC patients and healthy subjects. These findings firstly identify microbiota dysbiosis of tongue coat in LC patients, may providing novel and non-invasive potential diagnostic biomarker of LC. PMID:27605161
Guleria, Anupam; Pratap, Avadhesh; Dubey, Durgesh; Rawat, Atul; Chaurasia, Smriti; Sukesh, Edavalath; Phatak, Sanat; Ajmani, Sajal; Kumar, Umesh; Khetrapal, Chunni Lal; Bacon, Paul; Misra, Ramnath; Kumar, Dinesh
Management of patient with Lupus Nephritis (LN) continues to remain a challenge for the treating physicians because of considerable morbidity and even mortality. The search of biomarkers in serum and urine is a focus of researchers to unravel new targets for therapy. In the present study, the utility of NMR-based serum metabolomics has been evaluated for the first time in discriminating LN patients from non-nephritis lupus patients (SLE) and further to get new insights into the underlying disease processes for better clinical management. Metabolic profiling of sera obtained from 22 SLE patients, 40 LN patients and 30 healthy controls (HC) were performed using high resolution 1D 1H-CPMG and diffusion edited NMR spectra to identify the potential molecular biomarkers. Using multivariate analysis, we could distinguish SLE and LN patients from HC and LN from SLE patients. Compared to SLE patients, the LN patients had increased serum levels of lipid metabolites (including LDL/VLDL lipoproteins), creatinine and decreased levels of acetate. Our results revealed that metabolic markers especially lipids and acetate derived from NMR spectroscopy has high sensitivity and specificity to distinguish LN among SLE patients and has the potential to be a useful adjunctive tool in diagnosis and clinical management of LN. PMID:27739464
Fan, Guanrong; Zou, Dongdong; Wang, Tong
Background Over 90% of outpatient care in China was delivered at public hospitals, making outpatient experience in this setting an important aspect of quality of care. Objective To assess outpatient experience with different aspects of physician services at China’s public hospitals and its association with overcrowding of the hospital outpatient departments. Research design Retrospective analysis of a large survey of outpatient experience in Shanghai, China. We tested the hypotheses that patient experience was poorer with physician-patient communication, education, and shared decision-making and where and when there was greater overcrowding of the hospital outpatient departments. Ordered logistic models were estimated separately for general and specialty hospitals. Subjects 7,147 outpatients at 40 public hospitals in Shanghai, China, in 2014. Measures Patient experience with physician services were self-reported based on 12 questions as part of a validated instrument. Indicators of overcrowding included time of visit (morning vs. afternoon, Monday vs. rest of the week) and hospital outpatient volume in the first half of 2014. Results Overall, patients reported very favorable experience with physician services. Two out of the 12 questions pertaining to both communication and shared decision-making consistently received lower ratings. Hospitals whose outpatient volumes were in the top two quartiles received lower patient ratings, but the relationship achieved statistical significance among specialty hospitals only. Conclusions Inadequate physician-patient communication and shared decision-making and hospital overcrowding compromise outpatient experience with physician services at Chinese public hospitals. Effective diversion of patients with chronic and less complex conditions to community health centers will be critical to alleviate the extreme workloads at hospitals with high patient volumes and, in turn, improve patient experience. PMID:28207783
Bao, Yuhua; Fan, Guanrong; Zou, Dongdong; Wang, Tong; Xue, Di
Over 90% of outpatient care in China was delivered at public hospitals, making outpatient experience in this setting an important aspect of quality of care. To assess outpatient experience with different aspects of physician services at China's public hospitals and its association with overcrowding of the hospital outpatient departments. Retrospective analysis of a large survey of outpatient experience in Shanghai, China. We tested the hypotheses that patient experience was poorer with physician-patient communication, education, and shared decision-making and where and when there was greater overcrowding of the hospital outpatient departments. Ordered logistic models were estimated separately for general and specialty hospitals. 7,147 outpatients at 40 public hospitals in Shanghai, China, in 2014. Patient experience with physician services were self-reported based on 12 questions as part of a validated instrument. Indicators of overcrowding included time of visit (morning vs. afternoon, Monday vs. rest of the week) and hospital outpatient volume in the first half of 2014. Overall, patients reported very favorable experience with physician services. Two out of the 12 questions pertaining to both communication and shared decision-making consistently received lower ratings. Hospitals whose outpatient volumes were in the top two quartiles received lower patient ratings, but the relationship achieved statistical significance among specialty hospitals only. Inadequate physician-patient communication and shared decision-making and hospital overcrowding compromise outpatient experience with physician services at Chinese public hospitals. Effective diversion of patients with chronic and less complex conditions to community health centers will be critical to alleviate the extreme workloads at hospitals with high patient volumes and, in turn, improve patient experience.
Fábián, G; Gáspár, J; Fábián, T K
Authors present a case report of an adult patient treated with the combination of orthodontic and prosthetic treatment methods. The importance of periodontal and psychological management of such patients is pointed out.
Bémer, P; Boutoille, D; Lepelletier, D; Chamoux, C; Guitton, C; Drugeon, H
Tuberculous meningitis remains a devastating disease with poor prognosis in terms of mortality or invalidating after-effects. Eighteen cases of tuberculous meningitis, occurred between 1994 and 2005, were re-examined retrospectively. Among the 18 patients, 13 were aged from 14 to 64 years, and 5 were older than 64. There was no gender dominance. Factors of risk were identified in 7 patients. British Medical Research Council staging was III in 9 patients, II in 2 patients and I in 7 patients. Protein and glucose levels in the cerebrospinal fluid sample were very variable ranging from 0.4 to 10.7 g/L and 0.4 to 3.7 mmol/L respectively. The cellular reaction was also very variable ranging from 0 to 250 elements, mostly lymphocytes. Antituberculous treatment was given to 15 patients, associated with corticosteroid therapy for 9 patients. Among the 18 patients, 11 died within 1 year, 4 were treated for a recurrence occurring up to 6 years after the diagnosis, 1 presented important neuropsychic after-effects and 2 patients survived without after-effects with a time ranging between 6 months and 1 year. The deceased patients were significantly older than the others. The risk of mortality was 4.5-fold greater among stage III patients than among stage I and II patients. The use of corticosteroids significantly reduced the risk of death.
García-Viniegras, C R; Rial Blanco, N; Molina Martínez, O; Salazar Fernández, N; Almeida Hernández, L; Herrera Rodríguez, G
Forty-one amputee patients because vascular disease, 20 of them diabetics and 21 non-diabetics, with a mean of 68 years, were studied--from psychosocial aspect--by interviewing them 3 or 4 years after their amputation. Different factors were evaluated, like prosthesis usage, personal cares that patient could do by him self, home activities made by the patients, sexual life quality and labor status. For this evaluation different variables were considered, like age, sex, scholar level, familial economic level, original pathology, amputation level, stump status and phantom [correction of fantasm] limb perception. The most important variables correlated with good psychosocial conditions of amputee patients are noted, and considerations and recommendations for a rehabilitation program are established.
At the center of medical practice lies medical care. By its very nature, medical care is always unique, unrepeatable and irrevocable. The irreversibility and permanent contact with the biological existence of the patient places the physician under enormous pressure. The human being must always be considered holistically to prevent concentration on an individual illness and to meet the expectations of each patient regarding his right to individuality. In this article, we will discuss the theoretical fundamentals of a physician-patient-relationship based on patient autonomy. Focus is placed on the fields of interaction and the increasing demands placed on physicians. A successful physician-patient-relationship is easily learnt and can be utilized in all medical fields. The physician-patient-relationship forms the foundation for patient satisfaction and treatment success.
Unoka, Zsolt; Seres, Imola; Aspán, Nikoletta; Bódi, Nikoletta; Kéri, Szabolcs
Patients with borderline personality disorder (BPD) display severe difficulties in interpersonal relationships and impulse control. We explored the possibility that patients with BPD show less trust and more risk-taking behavior in experimental games as compared with controls and with depressed patients with other personality disorders. In the trust game, the participant played the role of an investor who interacted with a trustee via the Internet. The investor could choose a costly action by giving money units (MU) to the trustee. The trustee then could honor the investor's trust by sharing the monetary increase. In the risk game, the investor could transfer money to a lottery, and therefore the payoff depended on luck and not on the decision of another person. Results revealed that the patients with BPD (n = 25) transferred a smaller amount of MUs across 5 consecutive transactions in the trust game as compared with the controls (n = 25) and with the depressed patients (n = 25). In the risk game, the performance of the BPD patients was similar to that of the controls and depressed patients. Trust game performance was predicted by the interpersonal and cognitive sector scores of the Zanarini Rating Scale for Borderline Personality Disorder. Self reports indicated that the patients with BPD were less optimistic regarding the outcome (payoff) of the trust game, but not of the risk game. These results suggest that patients with BPD exhibit less trust during interpersonal interactions, which may be related to stress-related paranoia, dissociation, identity disturbance, and problems in interpersonal relationships.
Fassihi, Hiva; Sethi, Mieran; Fawcett, Heather; Wing, Jonathan; Chandler, Natalie; Mohammed, Shehla; Craythorne, Emma; Morley, Ana M S; Lim, Rongxuan; Turner, Sally; Henshaw, Tanya; Garrood, Isabel; Giunti, Paola; Hedderly, Tammy; Abiona, Adesoji; Naik, Harsha; Harrop, Gemma; McGibbon, David; Jaspers, Nicolaas G J; Botta, Elena; Nardo, Tiziana; Stefanini, Miria; Young, Antony R; Sarkany, Robert P E; Lehmann, Alan R
Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased susceptibility to UV radiation (UVR)-induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Genetically, it is assigned to eight complementation groups (XP-A to -G and variant). For the last 5 y, the UK national multidisciplinary XP service has provided follow-up for 89 XP patients, representing most of the XP patients in the United Kingdom. Causative mutations, DNA repair levels, and more than 60 clinical variables relating to dermatology, ophthalmology, and neurology have been measured, using scoring systems to categorize disease severity. This deep phenotyping has revealed unanticipated heterogeneity of clinical features, between and within complementation groups. Skin cancer is most common in XP-C, XP-E, and XP-V patients, previously considered to be the milder groups based on cellular analyses. These patients have normal sunburn reactions and are therefore diagnosed later and are less likely to adhere to UVR protection. XP-C patients are specifically hypersensitive to ocular damage, and XP-F and XP-G patients appear to be much less susceptible to skin cancer than other XP groups. Within XP groups, different mutations confer susceptibility or resistance to neurological damage. Our findings on this large cohort of XP patients under long-term follow-up reveal that XP is more heterogeneous than has previously been appreciated. Our data now enable provision of personalized prognostic information and management advice for each XP patient, as well as providing new insights into the functions of the XP proteins.
Fassihi, Hiva; Sethi, Mieran; Fawcett, Heather; Wing, Jonathan; Chandler, Natalie; Mohammed, Shehla; Craythorne, Emma; Morley, Ana M. S.; Lim, Rongxuan; Turner, Sally; Henshaw, Tanya; Garrood, Isabel; Giunti, Paola; Hedderly, Tammy; Abiona, Adesoji; Naik, Harsha; Harrop, Gemma; McGibbon, David; Jaspers, Nicolaas G. J.; Botta, Elena; Nardo, Tiziana; Stefanini, Miria; Young, Antony R.; Sarkany, Robert P. E.; Lehmann, Alan R.
Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased susceptibility to UV radiation (UVR)-induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Genetically, it is assigned to eight complementation groups (XP-A to -G and variant). For the last 5 y, the UK national multidisciplinary XP service has provided follow-up for 89 XP patients, representing most of the XP patients in the United Kingdom. Causative mutations, DNA repair levels, and more than 60 clinical variables relating to dermatology, ophthalmology, and neurology have been measured, using scoring systems to categorize disease severity. This deep phenotyping has revealed unanticipated heterogeneity of clinical features, between and within complementation groups. Skin cancer is most common in XP-C, XP-E, and XP-V patients, previously considered to be the milder groups based on cellular analyses. These patients have normal sunburn reactions and are therefore diagnosed later and are less likely to adhere to UVR protection. XP-C patients are specifically hypersensitive to ocular damage, and XP-F and XP-G patients appear to be much less susceptible to skin cancer than other XP groups. Within XP groups, different mutations confer susceptibility or resistance to neurological damage. Our findings on this large cohort of XP patients under long-term follow-up reveal that XP is more heterogeneous than has previously been appreciated. Our data now enable provision of personalized prognostic information and management advice for each XP patient, as well as providing new insights into the functions of the XP proteins. PMID:26884178
McGhee, C N; Orr, D; Kidd, B; Stark, C; Bryce, I G; Anastas, C N
AIMS: To determine the reasons patients seek excimer laser treatment for myopia and to measure levels of patient satisfaction with each phase of this relatively new treatment. METHODS: A unique 38 item visual analogue questionnaire was developed and applied to 100 consecutive patients (n = 100) who had undergone excimer laser photorefractive keratectomy for myopia or myopic astigmatism at a single centre. All subjects underwent extensive ophthalmic assessment and patient education before treatment. RESULTS: A 90% response rate was achieved (n = 90). Improved unaided vision (85.6%), freedom from spectacles (83.3%), and difficulties with contact lens wear (72.7%) were the most common reasons for seeking treatment. The majority of patients felt that the quality of their life had improved (85.5%) and 82% felt that the quality of their unaided vision was as good as they had anticipated. overall, 95.5% of patients were pleased that they had undergone this procedure. The vast majority (98.9%) of patients felt that they fully understood the operation pretreatment but almost one quarter (23.9%) found the actual operation distressing. Only 15.7% found postoperative pain did not respond adequately to prescribed analgesia. CONCLUSIONS: This study demonstrates a very high level of patient satisfaction after excimer laser treatment for myopia and myopic astigmatism. It suggests that most patients seek treatment to enjoy better vision free from optical aids and that a high level of patient education preoperatively may establish realistic expectations and satisfaction with overall outcome. PMID:8976697
Santos, Maria de Fátima Oliveira Dos; Fernandes, Maria das Graças Melo; Sousa, Eduardo Sérgio Soares; Oliveira, Harison José de; Ramalho, Gualter Lisboa
Ethical principles guide professional conduct, particularly in establishing the doctor-patient relationship and, therefore, require constant reflection. The purpose of this study is to analyze ethical experiences of anesthesiologists in their interaction with the patient under their care. This was an exploratory study involving 16 active anesthesiologists at a university hospital in João Pessoa, Paraíba. We collected data through semi-structured interviews and analyzed qualitatively using the content analysis technique. The study findings show that the classification of ethical experiences of the study participants regarding the doctor-patient relationship were classified into five categories: respect for the patient, humane treatment, equal treatment, professional secrecy, and respect for patient autonomy. We conclude that respondents recognize the ethical and humanistic values that should guide the relationship with their patients.
Ross, Elizabeth Fromm; Haidet, Paul
Patient-centered care is vital in developing the therapeutic relationship. Attitude may be an important measure of student potential for giving patient-centered care. The purpose of this study was to assess attitudes toward patient-centered care in doctor of physical therapy students before and after completion of a course that addresses communication skills and psychosocial aspects of care. In 2009, forty-nine students in the Doctor of Physical Therapy educational program at Duke University took a required course which included recommended elements for teaching patient-centered care. Students completed the Patient-Practitioner Orientation Scale (PPOS) and the Tasks of Medicine Scale (TOMS) twice prior to the course and once at course completion. Demographic data were gathered and students responded to open-ended questions at final survey administration. There were statistically significant differences in student attitudes toward patient-centered care after the educational experience on the PPOS and the TOMS, which were supported by students' written responses. Changes in attitudes toward patient-centered care are possible with educational intervention. The results of this study may help to inform educators of medical professionals about the education of practitioners to develop patient-centered attitudes. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.
Traoré, Youssouf; Bensghir, Rajaa; Ihbibane, Fatima; OuladLashen, Ahd; Sodqi, Mustapha; Marih, Latifa; Chakib, Abdelfattah; Marhoum, Kamal El Filali
Nationally, no data on the association between human immunodeficiency virus infection and diabetes have been published. To review the epidemiological, clinical and therapeutic data and evaluate the experience of people living with HIV and suffering from diabetes. Our study population was composed of 190 outpatients (87 males and 103 females) attending the Infectious Diseases department of the University Hospital Center of Casablanca (Ibn Rochd). Using the computerized medical records, we identified patients with HIV-Diabetes and collected their epidemiological, clinical and therapeutic data. At the enrollment date of each patient, we measured anthropometric parameters (weight, height, waist circumference, hip circumference, and arm circumference). We also asked each patient, about the impression on their bodies' appearance and the degree of concern with regard to the diabetes. The population of patients with HIV, the prevalence of diabetes was 10.5%, among the patients taking an antiretroviral therapy, the prevalence was 13.5%. Diabetes has been diagnosed in 113 patients before the discovery of their HIV infection. At time of recruitment, 111 of them were under antiretroviral therapy for a mean period of 3.1years. Zidovudine was the most prescribed drug followed by lamivudine. Type 2 diabetes was diagnosed in 144 patients. Eighty-seven patients feel conscious about their body appearance which makes them feel bad about the way they look. Metformin was prescribed in 46 cases. The majority of patients (73.1%) considered diabetes as a second health problem. Only 46 patients were well balanced. The multidisciplinary consultation and patient education should enable an appropriate management of diabetes in HIV infected patients. Copyright © 2016 Elsevier Masson SAS. All rights reserved.
Moorcraft, Sing Yu; Marriott, Cheryl; Peckitt, Clare; Cunningham, David; Chau, Ian; Starling, Naureen; Watkins, David; Rao, Sheela
Recruitment to clinical trials can be challenging and slower than anticipated. This prospective patient survey aimed to investigate the proportion of patients approached about a trial who agree to participate, their motivations for trial participation and their views on aspects of cancer research. Patients who had been approached about participation in any clinical trials in the Gastrointestinal and Lymphoma Unit at the Royal Marsden were invited to complete a questionnaire. The statistical analysis is mainly descriptive, with percentages being reported. Univariate logistic regression analysis was used to determine any associations between patient characteristics and patient responses. From August 2013-July 2014, 276 patients received 298 clinical trial patient information sheets and were asked to complete the questionnaire. The majority of patients (263 patients, 88 %) consented to a clinical trial and 249 of the 263 patients (95 %) completed the questionnaire. Multiple factors influenced decisions to participate in clinical trials, with patients stating that the most important reasons were that the trial offered the best treatment available and that the trial results could benefit others. Of the 249 questionnaire respondents, 78 % would donate their tissue for genetic research, 75 % would consider participating in studies requiring a research biopsy and 75 % felt that patients should be informed of trial results. Patients treated with palliative intent and those who had received multiple lines of treatment were more willing to consider research biopsies. Of the patients approached about a clinical trial of an investigational medicinal product, 48-50 % would have liked more information on the study drugs/procedures. The majority of patients approached about a clinical trial consented to one or more trials. Patients' motivations for trial participation included potential personal benefit and altruistic reasons. A high proportion of patients were willing to
Varn, Frederick S.; Andrews, Erik H.; Mullins, David W.; Cheng, Chao
Transcriptional programmes active in haematopoietic cells enable a variety of functions including dedifferentiation, innate immunity and adaptive immunity. Understanding how these programmes function in the context of cancer can provide valuable insights into host immune response, cancer severity and potential therapy response. Here we present a method that uses the transcriptomes of over 200 murine haematopoietic cells, to infer the lineage-specific haematopoietic activity present in human breast tumours. Correlating this activity with patient survival and tumour purity reveals that the transcriptional programmes of many cell types influence patient prognosis and are found in environments of high lymphocytic infiltration. Collectively, these results allow for a detailed and personalized assessment of the patient immune response to a tumour. When combined with routinely collected patient biopsy genomic data, this method can enable a richer understanding of the complex interplay between the host immune system and cancer. PMID:26725977
Allen, Lynn C
The aim of this study is to describe how implementation of a quality management system (QMS) based on ISO 15189 enhances patient safety. A literature review showed that several European hospitals implemented a QMS based on ISO 9001 and assessed the impact on patient safety. An Internet search showed that problems affecting patient safety have occurred in a number of laboratories across Canada. The requirements of a QMS based on ISO 15189 are outlined, and the impact of the implementation of each requirement on patient safety is summarized. The Quality Management Program - Laboratory Services in Ontario is briefly described, and the experience of Ontario laboratories with Ontario Laboratory Accreditation, based on ISO 15189, is outlined. Several hospitals that implemented ISO 9001 reported either a positive impact or no impact on patient safety. Patient safety problems in Canadian laboratories are described. Implementation of each requirement of the QMS can be seen to have a positive effect on patient safety. Average laboratory conformance on Ontario Laboratory Accreditation is very high, and laboratories must address and resolve any nonconformities. Other standards, practices, and quality requirements may also contribute to patient safety. Implementation of a QMS based on ISO 15189 provides a solid foundation for quality in the laboratory and enhances patient safety. It helps to prevent patient safety issues; when such issues do occur, effective processes are in place for investigation and resolution. Patient safety problems in Canadian laboratories might have been prevented had effective QMSs been in place. Ontario Laboratory Accreditation has had a positive impact on quality in Ontario laboratories. Copyright © 2013 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
Schilli, Karen Danielle; Stricklin, Sherea Monica; Payne, Katie Sue; Rader, Ryan Kent; Stoecker, William V
This is the second part of a two-part article on personal details revealed by hand examination. Examining hands to determine daily activities was the focus of Part 1 in the July/August 2014 Missouri Medicine. Personal traits and preferences, including pets, nutrition and psychology are presented here. These articles serve as a guide for visual clues on the hands to discern a patient's daily activities and personal preference, thereby providing social information that may help establish rapport between patient and physician and may have medical significance.
Jousserand, G; Poujois, A; Antoine, J-C; Camdessanché, J-P
Celiac disease (CD) may be complicated by an enteropathy associated T-cell lymphoma (EATL), but lymphomatous dissemination outside the gastrointestinal tract is uncommon especially to the peripheral nervous sytem. We report a 54-year-old CD patient with EATL revealed by subacute polyradiculopathy. Peripheral neuropathies associated with CD are generally not polyradiculopathies, but sensorimotor neuropathies. Peripheral neurological complications of non-Hodgkin lymphoma are more frequent with B-lymphoma and a neurological presentation of EATL is very rare. This case illustrates the usefulness of searching for EATL in CD patients with polyradiculopathy.
Liu, Meng-Lu; Zang, Tong; Zhang, Chun-Li
SUMMARY Subtype-specific neurons obtained from adult humans will be critical to modeling neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS). Here we show that adult human skin fibroblasts can be directly and efficiently converted into highly pure motor neurons without passing through an induced pluripotent stem cell stage. These adult human induced motor neurons (hiMNs) exhibit the cytological and electrophysiological features of spinal motor neurons and form functional neuromuscular junctions (NMJs) with skeletal muscles. Importantly, hiMNs converted from ALS-patient fibroblasts show disease-specific degeneration manifested through poor survival, soma shrinkage, hypoactivity, and an inability to form NMJs. A chemical screen revealed that the degenerative features of ALS-hiMNs can be remarkably rescued by the small molecule kenpaullone. Taken together, our results define a direct and efficient strategy to obtain disease-relevant neuronal subtypes from adult human patients and reveal their promising value in disease modeling and drug identification. PMID:26725112
Liu, Meng-Lu; Zang, Tong; Zhang, Chun-Li
Subtype-specific neurons obtained from adult humans will be critical to modeling neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS). Here, we show that adult human skin fibroblasts can be directly and efficiently converted into highly pure motor neurons without passing through an induced pluripotent stem cell stage. These adult human induced motor neurons (hiMNs) exhibit the cytological and electrophysiological features of spinal motor neurons and form functional neuromuscular junctions (NMJs) with skeletal muscles. Importantly, hiMNs converted from ALS patient fibroblasts show disease-specific degeneration manifested through poor survival, soma shrinkage, hypoactivity, and an inability to form NMJs. A chemical screen revealed that the degenerative features of ALS hiMNs can be remarkably rescued by the small molecule kenpaullone. Taken together, our results define a direct and efficient strategy to obtain disease-relevant neuronal subtypes from adult human patients and reveal their promising value in disease modeling and drug identification.
Liaquat, Sidra; Sultan, Sarwat; Hussain, Irshad
The purpose of this study was to address the importance of spiritual well-being and hope among cancer patients diagnosed with its different stages. Through stratified sampling techniques, 120 cancer patients from four stages evenly divided into male and female participated in this study. Spiritual Well-being Scale (Paloutzian & Ellison, 1982)…
Pitrolo, Lorella; Malizia, Graziella; Lo Pinto, Carmela; Malizia, Velia; Capra, Massimo
Hypothyroidism is one of the most common endocrine complications in thalassemic patients, usually appearing in the second decade of life related to iron overload. Ultrasonography is one of the techniques most frequently used to evaluate the volume and structure of the gland. The aim of the present work was to evaluate the possible correlation between thyroid function and its appearance on ultrasound in 45 thalassemic patients. We found reduced antero-posterior diameter of the thyroid in 12 patients (26.6%), reduced echogenicity of the glandular tissue in 24 patients (46.6%), and diffuse spotty echogenicity in 15 patients (33.3%). In our opinion, these patterns may be useful to indicate the need for further diagnostic evaluation of thyroid function. Follow-up studies are necessary to confirm this hypothesis.
Bremerich, A; Hierl, T
This study was conducted on 426 patients undergoing third molar surgery to evaluate their opinion on surgery and the follow-up period concerning postoperative behaviour, pain, and complaints. Two groups were formed as patients had to choose between local anaesthesia only or additional conscious sedation by means of intravenous midazolam (0.1 mg/kg). Women and younger patients preferred conscious sedation. Surgery was described as significantly less distressing by the sedated group. No difference in the evaluation of the follow-up period between both groups existed. Patients of the midazolam group took more analgesics, tended to stay longer in bed and reported on protracted cooling. Non-sedated persons older than 30 years complained about a slower decrease in postoperative pain. According to these findings, sensitive, cautious patients tend to prefer conscious sedation which is reflected in their behaviour. No relationship between the evaluation of surgery itself and the follow-up period could be found.
Limeres-Posse, Jacobo; Castaño-Novoa, Patricia; Abeleira-Pazos, Maite; Ramos-Barbosa, Isabel
Dental treatment in patients with Autism Spectrum Disorders (ASD) can be complicated due to the presence of behavioral alterations. In this group, there are no specific behavioral profiles that allow dentist to anticipate the attitude that a patient will show during a visit. Thus, behavioral attitudes have been described that vary from total permissiveness and collaboration during even bloody procedures, to the absolute impossibility in conducting a simple oral examination. There is no effective behavioral management technique for all ASD patients. Prior information, such as the type of ASD or the presence of certain concurrent pathologies can help predict the patient's likely behavior. Therefore, gathering all the information in a preliminary interview with the parents/guardians of the patient is recommended. Knowing these factors will allow individualized behavioral management strategies to be designed and facilitates the planning of dental treatment.
Piegeler, Tobias; Thoeni, Nils; Kaserer, Alexander; Brueesch, Martin; Sulser, Simon; Mueller, Stefan M.; Seifert, Burkhardt; Spahn, Donat R.; Ruetzler, Kurt
Abstract Cardiopulmonary resuscitation (CPR) is indicated in patients suffering from out-of-hospital cardiac arrest. Several studies suggest a sex- and age-based bias in the treatment of these patients. This particular bias may have a significant impact on the patient's outcome. However, the reasons for these findings are still unclear and discussed controversially. Therefore, the aim of this study was to retrospectively analyze treatment and out-of-hospital survival rates for potential sex- and age-based differences in patients requiring out-of-hospital CPR provided by an emergency physician in the city of Zurich, Switzerland. A total of 3961 consecutive patients (2003–2009) were included in this retrospective analysis to determine the frequency of out-of-hospital CPR and prehospital survival rate, and to identify potential sex- and age-based differences regarding survival and treatment of the patients. Seven hundred fifty-seven patients required CPR during the study period. Seventeen patients had to be excluded because of incomplete or inconclusive documentation, resulting in 743 patients (511 males, 229 females) undergoing further statistical analysis. Female patients were significantly older, compared with male patients (68 ± 18 [mean ± SD] vs 64 ± 18 years, P = .012). Men were resuscitated slightly more often than women (86.4% vs 82.1%). Overall out-of-hospital mortality rate was found to be 81.2% (492/632 patients) with no differences between sexes (82.1% for males vs 79% for females, odds ratio 1.039, 95% confidence interval 0.961–1.123). No sex differences were detected in out-of-hospital treatment, as assessed by the different medications administered, initial prehospital Glasgow Coma Scale, and prehospital suspected leading diagnosis. The data of our study demonstrate that there was no sex-based bias in treating patients requiring CPR in the prehospital setting in our physician-led emergency ambulance service. PMID:27149475
Businco, L Di Rienzo; Lauriello, M; Marsico, C; Corbisiero, A; Cipriani, O; Tirelli, G Coen
Use of cocaine, by inhalation, is currently increasing in Western Countries and its use is superseding heroin in the rising generation. Young people of the third millennium use narcotics to avoid the negative conditions of daily life and to escape on "unreal" trips, as happened in the '60s and '70s for the heroin-addicted. Today, on the contrary, people addicted to cocaine want to be more competitive and "winners" and believe that cocaine can help them to reach this goal. A series of 104 patients (75 male, 29 female), aged between 16 and 54 yrs, all habitual inhaling cocaine users (> or = 10 times per month) have been observed for 2 years. Among them, 11 (10.5%) had nasal septal perforation, which is frequently related to cocaine use. Of these 11 patients, 8 (72.7%) had nasal septal perforation of the quadrangular cartilage, while in the other 3 (27.3%) the perforation involved also the bony tract (vomer-perpendicular ethmoidal lamina). Psychological analysis of these 104 patients is reported: 62 patients (59.6%) answered that they inhaled cocaine to improve endurance and to feel stronger and less tired; 34 patients (32.7%) in order to enjoy themselves more during parties and to communicate more effectively with other people; 5 patients (4.8%) to gain confidence and to overcome their shyness, 2 patients (1.9%) to improve their sexual performance and 1 patient (1%) to drink more alcoholic drinks for a longer time without feeling sleepy. All the patients underwent psychotherapeutic treatment, but the lack of compliance and constantly missing the scheduled follow-up visits resulted in complete therapy being performed in only 16 patients (15.3%). All the patients with nasal septal perforation underwent rhino-endoscopy, at T0, with 0 degrees, 45 degrees endoscopes, computed tomography scan of nose and paranasal sinuses and biopsy. At the time of the observational period, none of the 11 patients who presented nasal septal perforation agreed to stop cocaine abuse
Achury Saldaña, Diana Marcela; Pinilla Alarcón, Maribel; Alvarado Romero, Herly
To describe aspects facilitating or interfering in the communication process between nursing professionals and patients in critical state. Descriptive study conducted during the second semester of 2013, with the participation of 112 nurses who work in Intensive Care Units of Bogotá (Colombia). To gather the information, the researchers designed a survey. A total of 91.6% of the nursing professionals considers communication important with patients and their families; 75.9% seeks to provide, during the care interventions, physical care and communicate per shift from two to four times with the patient and from one to two times with the family; 50% states feeling afraid to communicate; only 53.7% integrate their emotions in the patient's physical care. Regarding the elements of communication developed during their graduate formation, 42.8% received tools of therapeutic communication during their undergraduate studies and only 33.0% during graduate studies. It is worth to indicate that 80.36% of the Intensive Care Units, where the nursing professionals work, privilege interventions aimed at satisfying physiological needs. The communication process between nurses and patients in critical state is limited by restrictive institutional policies and by the nurse' scarce academic formation. The need exists to start a process of change in relation to models of professional practice deeply rooted in physical care of critical patients to establish models that, during physical care, are centered on communication and the patient-family-professional relationship.
Humeau-Heurtier, Anne; Colominas, Marcelo A; Schlotthauer, Gastón; Etienne, Maxime; Martin, Ludovic; Abraham, Pierre
Pseudoxanthoma elasticum (PXE) is an inherited and systemic metabolic disorder that affects the skin, leading among other things to a peau d'orange appearance. Unfortunately, PXE is still poorly understood and there is no existing therapy to treat the disease. Because the skin is the first organ to be affected in PXE, we propose herein a study of skin microvascular perfusion. By means of this analysis, our goal is to increase knowledge of PXE. For this purpose, microvascular data from patients suffering from PXE and from healthy control subjects were recorded using the laser speckle contrast imaging (LSCI) modality. These data were processed using the recent 2D version of the unconstrained optimization approach to empirical mode decomposition (UOA-EMD). Our work therefore corresponds to the first time this algorithm has been applied to biomedical data. Our study shows that the 2D-UOA-EMD is able to reveal spatial patterns on local textures of LSCI data. Moreover, these spatial patterns differ between PXE patients and control subjects. Quantification measure of these spatial patterns reveals statistical significant differences between PXE and control subjects, in the neck (p=0.0004) and in the back (p=0.0052). For the first time, alterations in microvascular perfusion in PXE patients have been revealed. Our findings open new avenues for our understanding of pathophysiologic skin changes in PXE. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.
Blau, Olga; Blau, Igor Wolfgang
Myelodysplastic syndrome (MDS) is a heterogeneous group of myeloid disorders. MDS remains a disease of elderly patients; moreover, the incidence of high risk MDS is proportionally greater in elderly patients, with increased frequency of secondary acute myeloid leukemia, as well as adverse cytogenetic abnormalities. Allogeneic stem cell transplantation is a therapeutic approach with known curative potential for patients with MDS that allows the achievement of long-term disease control. Numerous controversies still exist regarding transplantation in MDS: timing of transplantation, disease status at transplantation and comorbidity, conditioning intensity, pretransplant therapy, and stem cell source. Various transplant modalities of different intensities and alternative donor sources are now in use. Current advances in transplant technology are allowing the consideration of older patients. This should result in a greater number of older patients benefiting from this potentially curative treatment modality. Despite advances in transplantation technology, there is still considerable morbidity and mortality associated with this approach. Nevertheless, with the introduction of reduced-intensity conditioning and thereby reduced early mortality, transplant numbers in MDS patients have significantly increased. Moreover, recent new developments with innovative drugs, including hypomethylating agents, have extended the therapeutic alternatives for MDS patients. Hypomethylating agents allow the delay of allogeneic stem cell transplantation by serving as an effective and well-tolerated means to reduce disease burden.
Mergl, Roland; Mavrogiorgou, Paraskevi; Juckel, Georg; Zaudig, Michael; Hegerl, Ulrich
Movement disorders such as disturbances of fine motor co-ordination are a frequent phenomenon in patients with obsessive-compulsive disorder (OCD). Our aim was to investigate changes of hand-motor dysfunction in OCD patients under the influence of 10-week treatment with sertraline and behaviour therapy. We examined the performance of 40 patients satisfying DSM-IV criteria for OCD before and under this therapy using a digitising tablet and kinematic analysis of handwriting and drawing movements. Forty healthy controls were also tested (test-retest interval: 10 weeks). The speed of drawing was significantly lower in OCD patients than in controls (mean+/-standard deviation=197.03+/-113.26 mm/s for patients and 182.48+/-189.61 mm/s for controls; P=0.01). After 10 weeks of therapy, this parameter normalised in patients (from 197.03+/-113.26 mm/s to 163.66+/-101.92 mm/s; P=0.001). Hand-motor dysfunction (especially bradykinesia) improves with a serotonin-enhancing therapy in OCD patients.
Foissac-Gegoux, P; Flipo, R M; Hardouin, P; Dumont, A; Duquesnoy, B; Lecomte-Houcke, M; Delcambre, B
In a prospective study, 80 patients undergoing long-term hemodialysis, 30% more than ten years, were evaluated for joint function and radiographic abnormalities; 58 patients (72%) had clinical symptoms; non-specific arthralgia was the most frequent; 15 patients had inflammatory pain (shoulders 9, hands 3) and diminution of finger mobility (10). Radiological examinations showed 40 abnormal findings in 23 patients (28%): erosive arthropathies of fingers (4), and multiple geodes of the carpus (8), of the humeral head (7) or of the hip (9). We also detected spondylolisthesis (4), erosive arthropathy of cervical (6) or lumbar (2) spine. Pathological study of synovial biopsies was performed in 16 cases. Amyloidosis was found in 4 samples taken routinely. In 2 other cases the biopsy was done on the basis of lesions seen on x-rays: we found amyloidosis in the synovial membrane in both patients and in the bone in one. In 8 patients we found C3 deposits positive in immunofluorescence. These results underline the role of amyloidosis in the mechanism of some arthropathies in long-term hemodialysis patients.
Significant prospects in research on the pathology of schizophrenia are revealed in connection with the use of autoimmune reactions in clinical...practice. Important to this problem is the question concerning the presence of autoantibodies in the blood of patients with schizophrenia . It is necessary
Brown, Lawrence J
This paper explores the phenomenon of the countertransference dream. Until very recently, such dreams have tended to be seen as reflecting either unanalyzed difficulties in the analyst or unexamined conflicts in the analytic relationship. While the analyst's dream of his/her patient may represent such problems, the author argues that such dreams may also indicate the ways in which the analyst comes to know the patient on a deep, unconscious level by processing the patient's communicative projective identifications. Two extended clinical examples of the author's countertransference dreams are offered. The author also discusses the use of countertransference dreams in psychoanalytic supervision.
Illa, I; Rojas, R; Gallardo, E; Serrano, C; Graus, F
Sensory ataxic neuropathies (SANs) are characterized by loss of proprioceptive sensations and preservation of muscle strength. They may be idiopathic or associated with different toxic, infectious or autoimmune causes. Reactivity against gangliosides containing disialosyl groups, particularly GD1b, has been reported in isolated cases of acute and chronic idiopathic ataxic neuropathies (iSAN) and different experimental findings (in vivo animal models and in vitro preparations) suggest that antidisialosyl or antiGD1b antibodies could play a role in the pathogenesis of some ataxic neuropathies. We present the clinical, immunological and immunohistochemical characteristics of 17 patients who had a chronic iSAN without gammopathy. Patients were selected from a large group of 130 subjects with SAN: 93 with known etiology and 37 with iSAN. IgM and IgG antibodies to GM1, GM2, GM3, aGM1, GD1a, GD1b, GD3, GT1b and GQ1b were investigated by ELISA (INCAT protocol) and thin layer chromatography. Immunohistochemistry, using biotinylated Ig extracted from the patientś serum, was performed on human dorsal root ganglia (DRG), spinal cord, anterior and posterior roots, sural nerve and muscle tissue. The mean age of the 17 patients was 62 (37-80 years). The most disabling features were unsteadiness and severe ataxia of gait. Only one patient of this group was wheelchair-bound. The clinical data of these 17 patients were similar to those of the other patients with SAN, except that progression was slower. Antibodies to GD1b, GD3 and GT1b were found in 1/17. Two more patients (one with an acute iSAN and one with chronic iSAN and gammopathy), also had antibodies to disialosyl or GD1b. No immunohistochemical pattern of reactivity was found in any of the tissues tested with the 17 sera. In summary, this study demonstrates antidisialosyl or anti GD1b antibodies only in 3/37 (8.1p. cent) of patients with iSAN, either acute, chronic, or with gammopathy. However, their value seems to be
Goulart, Douglas Rangel; Queiroz, Elizabeth; Fernandes, Aline Úrsula Rocha; Oliveira, Luciana Martins de
Facial integrity is a condition which interferes in the daily life of the individual. The loss of an eyeball has psychological impact, requiring adaptation. Interventions such as prosthetic repair seem to lead to emotional and behavioral change. The objective of this study was to identify the psychosocial aspects related to unilateral anophthalmic socket and evaluate patient adaptation to prosthesis. All participants responded to a semi-structured interview. This was composed of two parts, the first regarding the general data of patient identification and socioeconomic aspects. The second part included information about eye loss and rehabilitation, with 31 questions. Twenty-eight volunteers were interviewed. Most were male (53.57%). Ages ranged between 11 and 67. Trauma was the prevalent etiological factor (60.71%). A significant statistical difference (p<0.05) was found between the scores of the feelings of loss before and after prosthesis (z Wilcoxon=-4.41; p<0.001). The data showed emotional difficulties in the initial contact with the loss of an eye and the role of the prosthesis as an element of social inclusion, stressing the importance of teamwork and access to fitting services in adapting these patients.
Bogucki, Zdzislaw Artur
Adhesives are commonly used by denture wearers to increase the retention and stability of the complete denture, to improve the chewing and masticatory abilities and to psychologically support the patient to make the complete denture more acceptable. Denture fixatives can be especially recommended for use and to aid retention for patients with dryness of the mouth, poor secretion of saliva and xerostomia (e.g. diabetes mellitus). Dental adhesives may be contaminated with bacteria, yeast and fungi during the manufacturing process, and they have been shown to initiate and promote microbial growth. Some products have been shown to release formaldehyde, which is cytotoxic to cell culture and fibroblasts and is a potent allergen. Patients with chronic xerostomia may use denture adhesives during the course of the treatment and disease. These patients are often immunocompromised, and microorganisms they are exposed to must be considered potential pathogens. © 2013 John Wiley & Sons A/S and The Gerodontology Society. Published by John Wiley & Sons Ltd.
Limeres-Posse, Jacobo; Castaño-Novoa, Patricia; Abeleira-Pazos, Maite; Ramos-Barbosa, Isabel
Dental treatment in patients with Autism Spectrum Disorders (ASD) can be complicated due to the presence of behavioral alterations. In this group, there are no specific behavioral profiles that allow dentist to anticipate the attitude that a patient will show during a visit. Thus, behavioral attitudes have been described that vary from total permissiveness and collaboration during even bloody procedures, to the absolute impossibility in conducting a simple oral examination. There is no effective behavioral management technique for all ASD patients. Prior information, such as the type of ASD or the presence of certain concurrent pathologies can help predict the patient’s likely behavior. Therefore, gathering all the information in a preliminary interview with the parents/guardians of the patient is recommended. Knowing these factors will allow individualized behavioral management strategies to be designed and facilitates the planning of dental treatment. Key words:Dentistry, autism, ASD, behavior management. PMID:24608219
Larsson, N. P.-O.; Tapper, U. A. S.; Sturesson, K.; Odselius, R.; Brun, A.
Alzheimer's disease, a common form of senile dementia, has been proposed to be caused by aluminium. One of the interesting structures to be studied, senile plaque cores in the brain, have centres of only about 10 μm. We have investigated the possibility of applying nuclear microprobes to sections containing senile plaques. An alternative staining procedure, TMToluidin blue staining using a spray technique, is also presented. An outline is given of a procedure for preparing senile plaque specimens for nuclear microprobe analysis. This includes a technique for accurate ion beam positioning, utilizing electron microscopy-grids. The subject may be of general interest since sample preparation is one of the most important aspects in microprobe analysis of biological matter.
Reichl, H; Schütz, T; Gabl, M; Angermann, P; Russe, E; Wechselberger, G
By presenting 2 cases of successful hand replantation with similar trauma mechanism, level of amputation and ischaemia time of an 18-year-old female patient and a 48-year-old depressive male patient, the influence of age and sociomedical status on the postoperative outcome is discussed. DASH- (disabilities of the arm, shoulder and hand) score and Biometrics E-LINK power and sensitivity measurement were used to evaluate the outcomes.
Włoszczak-Szubzda, Anna; Jarosz, Mirosław J
In the work of a physician, not only knowledge, and professional skills (technical/hard) are important, but also psychosocial skills (relational/soft). The primary goal of the presented research was evaluation of the level (study of the state) of communication competences of physicians and determination of the factors on which this level depends. An additional goal was analysis of the needs and educational possibilities within the existing models of education in the area of interpersonal communication provided in Medical Universities in Poland. Information about educational curricula available on the websites of 12 Medical Universities in Poland were compared. The self-designed questionnaire and adjective check list were subject to standardization from the aspect of reliability and validity. The study groups included 1) occupationally-active physicians (185 respondents) employed in outpatient departments and hospitals, who were covered by a pre-graduate standard educational programme and not trained in interpersonal communication skills as part of their continuing education; 2) medical students covered by a standard educational programme (246 respondents). The conducted analysis of the educational curricula showed a very narrow scope of problems concerning professional medical communication. The results indicating the general state of respondents' communication competences within all aspects (motivation, skills, knowledge) were relatively low. That clearly indicated an inadequate educational model (students), and lack of post-graduate training in the area of professional medical communication (physicians). The education of students of medicine should cover selected classes within the scope of professional communication competences. These classes should be based on the systemically designed training of skills. The patterning by students of the relations attitudes observed in practising physicians is insufficient. It is necessary to apply a methodical evaluation of
Vincenzi, Rodrigo; Seda-Neto, Joao; Fonseca, Eduardo Antunes da; Ketzer, Bernardo Mazzini; Benavides, Marcel; Cândido, Helry Lopes; Porta, Gilda; Miura, Irene Kazue; Pugliese, Renata; Danesi, Vera Baggio; Guimaraes, Teresa Cristina; Porta, Adriana; Borges, Cristian Barbieri; Kondo, Mario; Chapchap, Paulo
The vascular anomalies encountered in patients with biliary atresia associated with polysplenia syndrome and situs inversus (SI) demand technical refinements when liver transplantation is being performed. The available data describing the technique used in living donor liver transplantation (LDLT) in this population are limited; the short vascular stumps of the donor's liver can impart additional technical difficulties during vascular reconstruction. Here we describe our experience with 9 children with biliary atresia and SI who underwent LDLT. In our series, the retrohepatic vena cava was absent for 7 patients, 7 had a preduodenal portal vein (PV), and 4 had a variant arterial anatomy. The donor's left hepatic vein was anastomosed to the confluence of the recipient's 3 hepatic veins in 7 patients. Vascular grafts were used for PV reconstruction in 3 cases. A left lateral segment graft was used in all but 1 patient who needed a graft reduction. All grafts were placed in the upper left abdomen. There were no vascular complications after transplantation. All patients were alive and well at a median follow-up of 55 months. In conclusion, LDLT can be successfully performed in pediatric patients with SI. Complex vascular anomalies associated with the use of partial liver grafts obtained from living donors are not associated with an increased occurrence of vascular complications.
Tan, Sarah; Duong Dinh, Thien An; Westhofen, Martin
The results suggest that gender-specific differences in health-related quality-of-life (HRQoL) exist in patients with larynx carcinoma. In previous studies these differences might have been concealed by predominantly male subject groups. Future studies should consider a gender-specific analysis that suits the patient's idiosyncrasies associated with laryngeal cancer. There is little research concerning gender differences in quality-of-life (QoL) in patients with larynx carcinoma. Since laryngeal cancer is predominantly found in males, most studies examining HRQoL are based on a mainly male subject group. HRQoL needs to be assessed to determine the impact of disease and treatment and to evaluate possible treatment regimes. This study examined gender differences concerning HRQoL in 53 patients using EORTC QLQ-C30, and QLQ-H&N35 questionnaires. Patients treated with larynx carcinoma were given two questionnaires to assess HRQoL. The questionnaires were analyzed for each sex separately, as well as for the entire population. Female patients report significantly worse HRQoL than males. Age could not be identified as a significant predictor for HRQoL when males and females were analyzed together, and does not significantly predict HRQoL in men. However, age was found to be a significant predictor for HRQoL when only females were analyzed.
Kim, Jang Sik; Lee, Sangwook; Lee, Kwang Woo; Kim, Jun Mo; Kim, Young Ho; Kim, Min Eui
Computed tomography (CT) has become popular in the diagnosis of acute pyelonephritis (APN) and its related complications in adults. The aim of this study was to investigate the relationship between uncommon CT findings and clinical and laboratory data in patients with APN. From July 2009 to July 2012, CT findings and clinical data were collected from 125 female patients with APN. The six uncommon CT findings (excluding a wedge-shaped area of hypoperfusion in the renal parenchyma) studied were perirenal fat infiltration, ureteral wall edema, renal abscess formation, pelvic ascites, periportal edema, and renal scarring. The clinical parameters analyzed were the age and body mass index of the patients as well as the degree and duration of fever. Laboratory parameters related to inflammation and infection included white blood cell count, C-reactive protein (CRP) level, erythrocyte sedimentation rate, pyuria, and bacteriuria. The most common CT finding was perirenal fat infiltration (69 cases, 55%). A longer duration of fever, higher CRP level, and grade of pyuria were related with perirenal fat infiltration (p=0.010, p=0.003, and p=0.049, respectively). The CRP level was significantly higher in patients with renal abscess and ureteral wall edema (p=0.005 and p=0.015, respectively). The uncommon CT findings that were related to aggravated clinical and laboratory parameters of APN patients were perirenal fat infiltration, ureteral wall edema, and renal abscess formation. The inflammatory reaction and tissue destruction may be more aggressive in patients with these CT findings.
Jabor, A; Hendl, J; Kazda, A; Horácek, M; Zítko, K
The authors evaluated in 82 patients 228 findings of renal functions. Twenty-nine patients with a total number of 113 findings died. In those who died frequently the values of renal functional parameters were beyond the reference limits, indicating various failures (high serum creatinine, high serum urea, elevated fractional osmolal and water excretion, reduced creatinine clearance). In those who died tubular osmotic diuresis was more frequent, while overflow osmotic diuresis was found mostly in the surviving patients. By means of linear discrimination analysis vectors of parameters were assessed suitable for evaluation of the relationship of renal functions and the prognosis and functional shapes of so-called renal prognostic indicators. In the calculation of renal prognostic parameters the following ones prove useful: serum creatinine (SKrea), creatinine clearance (CKrea), serum osmolality (SOsm), osmolality of urine (UOsm), sodium cation in serum (SNa), fractional excretion of water (FeH2o), of potassium (FeK), osmolal (FeOsm), urinary excretion per 24 hours of creatinine (DuKrea), sodium (DuNa) and potassium (DuK). The best prognostic effectiveness was obtained from the calculation of the renal prognostic indicator (RPU) according to the following equation: RPU = SOsm.0.0178--CKrea.0.944 + FeK.0.854 + + DuKrea.0.0665--DuNa.0.0022 + DuK.0.0047--4.931. The RPU value rises with the deteriorating prognosis of the patients; in those who died it reaches more frequently positive values, in surviving patients the values are negative. By reclassification, using this prognostic index, 82% of the patients with a favourable prognosis and 68% with a poor prognosis (those who died) were correctly classified, i. e. a total of 74% patients.
Oliveira, Francisco Artur Forte; Fernandes, Clarissa Pessoa; Araujo, Kenia Samara Barbosa; Alves, Ana Paula Negreiros Nunes; Sousa, Fabrício Bitu; Mota, Mário Rogério Lima
T o present the clinical findings of a patient with fibrodysplasia ossificans progressiva (FOP), highlighting peculiarities of dental treatment in patients with this condition. FOP is a rare genetic disease characterized by skeletal malformations and ectopic ossifications in skeletal muscles, tendons, ligaments and aponeurosis. Exacerbation of these ossifications can be caused by dental treatment, resulting in disease progression. A 26-year-old male patient with a diagnosis of FOP was referred to our service for dental treatment. The patient presented decreased mobility in peripheral joints (knees and elbows), postural disability (ankylosis of the vertebral column), lateral deviation and shortness of the hallux, as well as heterotopic ossifications on the hands and back. The implementation of conservative dental procedures, such as oral hygiene instructions and recurrent topical fluoride applications, were performed in addition to endodontic and restorative treatments. Brief dental appointments were conducted without using regional anesthesia or dental dam clamps. The dental chair was positioned at 45° to provide more comfort and to avoid exacerbating the disease. The patient has now completed 6 months of follow-up and is free of heterotopic ossifications resulting from dental treatment. The dental treatment modifications implemented for the present case were sufficient to establish good oral health and to prevent the formation of heterotopic ossifications in the maxillofacial region. FOP is a rare disease dentists must familiarize themselves with to provide adequate, personalized treatment, which minimizes traumas that may exacerbate the disease.
Hazer, Derya Burcu; Yaşar, Barış; Rosberg, Hans-Eric; Akbaş, Aytaç
Aim. We discuss technical points, the safety, and efficacy of ultrasonic bone shaver in various spinal surgeries within our own series. Methods. Between June 2010 and January 2014, 307 patients with various spinal diseases were operated on with the use of an ultrasonic bone curette with microhook shaver (UBShaver). Patients' data were recorded and analyzed retrospectively. The technique for the use of the device is described for each spine surgery procedure. Results. Among the 307 patients, 33 (10.7%) cases had cervical disorder, 17 (5.5%) thoracic disorder, 3 (0.9%) foramen magnum disorder, and 254 (82.7%) lumbar disorders. Various surgical techniques were performed either assisted or alone by UBShaver. The duration of the operations and the need for blood replacement were relatively low. The one-year follow-up with Neck Disability Index (NDI) and Oswestry Disability Index (ODI) scores were improved. We had 5 cases of dural tears (1.6%) in patients with lumbar spinal disease. No neurological deficit was found in any patients. Conclusion. We recommend this device as an assistant tool in various spine surgeries and as a primary tool in foraminotomies. It is a safe device in spine surgery with very low complication rate. PMID:27195299
Ansaldi, N; Dell'Olio, D; Tavassoli, K; Faussone, D; La Vecchia, A; Bramante, L
We studied the social behaviour and dietary habits of 335 coeliacs older than 6 yrs diagnosed in our paediatric gastroenterology unit by a mailed questionnaire, 156 patients (45.2%) answered all questions; their median age was 14.7 yrs (range 6-29). We found that the disease does not compromise educational achievement and working capacity of patients. A majority of our coeliacs are students (from primary school to university) and rather successful ones since 55% of them passed their previous year examinations. Some are already employed and work as clerks, artisans, masons or skilled workers. 89.6% of our patients reported to be on a strict gluten-free diet, 9% introduce small amounts of gluten and 1.4% are on a normal diet by their own decision. Coeliac patients originating from Northern Italy have more of their gluten-free foods home made and use more gliadin free cereals (rice, maize), whereas coeliacs originating from the Southern regions consume more ready made gluten-free foods. We have assessed the amount of gluten-free products consumed monthly by our patients and their food preferences. Females eat less than males and prefer bread and flour based dishes, whereas males east more pasta and biscuits.
Montes, Samanta Flor; Barbosa, Maria Helena; de Sousa Neto, Adriana Lemos
The objectives of this study were to characterize burned patients according to epidemiological and clinical variables and identify the treatments, invasive procedures and complications. This is a retrospective, descriptive and quantitative study. The sample consisted of 138 burned patients hospitalized in a teaching hospital from January 2003 to December 2007, in Uberaba-MG. Of the 138 hospitalized patients, 98 (71.0%) were male, and the average age was 26.1 years. The average length of stay was 16.2 days; 93 (67.4%) of the burns were caused by accidents and the main cause (68; 49.3%) was an open flame. The average burned body surface was 20.8% and most (122; 88.4%) had second degree burns. The most common topic treatment (93; 67.4%) was silver sulfadiazine. Forty-seven (34.0%) patients had indwelling catheters; 30 (21.7%) underwent tissue transplantation, and 28 (20.3%) underwent debridement; the lesions in 14 (10.1%) patients became infected.
Stahley, Sara N; Warren, Maxine F; Feldman, Ron J; Swerlick, Robert A; Mattheyses, Alexa L; Kowalczyk, Andrew P
Pemphigus vulgaris (PV) is an autoimmune epidermal blistering disease in which autoantibodies (IgG) are directed against the desmosomal cadherin desmoglein 3. To better understand how PV IgG alters desmosome morphology and function in vivo, biopsies from patients with PV were analyzed by structured illumination microscopy, a form of superresolution fluorescence microscopy. In patient tissue, desmosomal proteins were aberrantly clustered and patient IgG colocalized with markers for lipid rafts and endosomes. Additionally, steady-state levels of desmoglein 3 were decreased and desmosomes were reduced in size in patient tissue. Desmosomes at blister sites were occasionally split, with PV IgG decorating the extracellular faces of split desmosomes. Desmosome splitting was recapitulated in vitro by exposing cultured keratinocytes both to PV IgG and to mechanical stress, demonstrating that splitting at the blister interface in patient tissue is due to compromised desmosomal adhesive function. These findings indicate that desmoglein 3 clustering and endocytosis are associated with reduced desmosome size and adhesion defects in tissue of patients with PV. Further, this study reveals that superresolution optical imaging is a powerful approach for studying epidermal adhesion structures in normal and diseased skin.
Hegele, Robert A.; Cao, Henian; Liu, Dora M.; Costain, Gary A.; Charlton-Menys, Valentine; Rodger, N. Wilson; Durrington, Paul N.
The etiology of acquired partial lipodystrophy (APL, also called “Barraquer-Simons syndrome”) is unknown. Genomic DNA mutations affecting the nuclear lamina protein lamin A cause inherited partial lipodystrophy but are not found in patients with APL. Because it also encodes a nuclear lamina protein (lamin B2) and its genomic structure was recently reannotated, we sequenced LMNB2 as a candidate gene in nine white patients with APL. In four patients, we found three new rare mutations in LMNB2: intron 1 −6G→T, exon 5 c.643G→A (p.R215Q; in two patients), and exon 8 c.1218G→A (p.A407T). The combined frequency of these mutations was 0.222 in the patients with APL, compared with 0.0018 in a multiethnic control sample of 1,100 subjects (P=2.1×10-7) and 0.0045 in a sample of 330 white controls (P=1.2×10-5). These novel heterozygous mutations are the first reported for LMNB2, are the first reported among patients with APL, and indicate how sequencing of a reannotated candidate gene can reveal new disease-associated mutations. PMID:16826530
Hegele, Robert A; Cao, Henian; Liu, Dora M; Costain, Gary A; Charlton-Menys, Valentine; Rodger, N Wilson; Durrington, Paul N
The etiology of acquired partial lipodystrophy (APL, also called "Barraquer-Simons syndrome") is unknown. Genomic DNA mutations affecting the nuclear lamina protein lamin A cause inherited partial lipodystrophy but are not found in patients with APL. Because it also encodes a nuclear lamina protein (lamin B2) and its genomic structure was recently reannotated, we sequenced LMNB2 as a candidate gene in nine white patients with APL. In four patients, we found three new rare mutations in LMNB2: intron 1 -6G-->T, exon 5 c.643G-->A (p.R215Q; in two patients), and exon 8 c.1218G-->A (p.A407T). The combined frequency of these mutations was 0.222 in the patients with APL, compared with 0.0018 in a multiethnic control sample of 1,100 subjects (P = 2.1 x 10-7) and 0.0045 in a sample of 330 white controls (P = 1.2 x 10-5). These novel heterozygous mutations are the first reported for LMNB2, are the first reported among patients with APL, and indicate how sequencing of a reannotated candidate gene can reveal new disease-associated mutations.
Stahley, Sara N.; Warren, Maxine F.; Feldman, Ron J.; Swerlick, Robert A.; Mattheyses, Alexa L.; Kowalczyk, Andrew P.
Pemphigus vulgaris (PV) is an autoimmune epidermal blistering disease in which autoantibodies (IgG) are directed against the desmosomal cadherin desmoglein 3 (Dsg3). In order to better understand how PV IgG alters desmosome morphology and function in vivo, PV patient biopsies were analyzed by structured illumination microscopy (SIM), a form of super-resolution fluorescence microscopy. In patient tissue, desmosomal proteins were aberrantly clustered and localized to PV IgG-containing endocytic linear arrays. Patient IgG also colocalized with markers for lipid rafts and endosomes. Additionally, steady-state levels of Dsg3 were decreased and desmosomes were reduced in size in patient tissue. Desmosomes at blister sites were occasionally split, with PV IgG decorating the extracellular faces of split desmosomes. Desmosome splitting was recapitulated in vitro by exposing cultured keratinocytes both to PV IgG and to mechanical stress, demonstrating that splitting at the blister interface in patient tissue is due to compromised desmosomal adhesive function. These findings indicate that Dsg3 clustering and endocytosis are associated with reduced desmosome size and adhesion defects in PV patient tissue. Further, this study reveals that super-resolution optical imaging is powerful approach for studying epidermal adhesion structures in normal and diseased skin. PMID:26763424
In today's world, the plurality of values is considered to be a constitutive feature of modern societies. In these societies, transcultural patient-physician relationships are a part of daily medical practice. Culturally determined value systems can be crucial for understanding the perception of notions such as "health" and "illness", leading to fundamental differences in assessing medical interventions and therapeutic objectives. Therefore, transcultural conflicts of interest are presenting medical ethical decision-making with new challenges. Time and again, medical practice demonstrates that cultural differences between physician and patient are correlated with the complexity of medical ethical conflicts, as can be seen in the relationship between Muslim patients and non-Muslim physicians in the German health care system. This paper discusses some of the central issues in these relationships like communication, sense of shame, religious duties, and medical end-of-life decisions, analyzing some concrete cases. Subsequently, a number of medical ethical theses relevant for multicultural societies will be discussed.
Ershov, V I
Comparative efficacy of neuroprotective preparations: actovegin, cerebrolysin and ceraxon was studied in 73 patients in the most acute phase of ischemic stroke. A control group included 33 patients in the most acute phase of ischemic stroke who received only basic treatment without neuroprotectors. Patient's state was assessed with the NIHSS, the original scale of E.I. Gusev and V.I. Skvortsova and the Barthel index. Ceraxon in daily dosage 2 g and cerebrolysin in daily dosage 10 ml during 10 days after the development of ischemic stroke led to the significantly better regression of neurological symptoms to the 21st day of disease compared to the control group. Barthel index scores did not differ in the groups studied.
Kizilhan, Jan Ilhan
Patients from collective cultures with a tradition-bound Islamic cultural background (e.g. people from the Middle East and some Far-East countries such Pakistan and Indonesia), have a different perception of disease and different conceptions of healing, which up till now have not been sufficiently appreciated in modern multimodal therapeutic approaches and health management. Taking patients' value systems into consideration in a culture-sensitive way, with reference to their notions of magic, healing ceremonies and religious rituals and especially patterns of relations and experience in the treatment of psychological diseases in medical psychotherapeutic work, with due regard to scientific psychotherapeutic standards, can be used as an intercultural resource and lead to establishing partnership-like relationships between patients and therapists.
Wickman, Marie; Sandelin, Kerstin; Arver, Brita
The purpose of this study was to evaluate a consecutive series of patients operated on with prophylactic mastectomy and immediate breast reconstruction with implants, focusing on preoperative assessment, technical aspects of surgical outcome, and number of postoperative complications on a short-term basis. Thirty consecutive healthy women with an increased risk of breast cancer who were therefore operated on with bilateral prophylactic mastectomy and immediate breast reconstruction are reported. A multidisciplinary approach with a geneticist, general surgeon, plastic surgeon, specially trained nurse, psychologist, gynecologist, and oncologist was used preoperatively, with thorough information provided to the patient about the surgery. Eleven patients had gene mutations, and in all patients, the geneticist had performed a risk assessment. The mean age of the patients was 41 years. The technique was modified over time with smaller or special incisions and tailor-made adjustments for each patient. Great care was taken to remove all breast tissue. The tops of the breast nipples were regrafted for cosmetic purposes, and the base was sent for histopathologic examination. In most cases, permanent expander prostheses with detachable valves were used. The areolas were tattooed, if they were not left in place. No patient had occult cancer or carcinoma in situ. Four postoperative complications occurred, including two hematomas, one infection (treated with antibiotics), and one pneumothorax in a patient with severe asthma. All reconstructions were fulfilled. The mean hospital stay was 5.7 days. The time from mastectomy to the final tattooing of the areolas was 260 days. All patients returned to normal daily activities after fulfilled reconstruction.
Zimmermmann, Juliana Barroso; Nani, Amanda Carolina Garcia; Junqueira, Camila Barbosa; Iani, Gabriela Campos de Melo; Gomes, Gustavo; Bahia, Souza
To evaluate the epidemiological and clinical aspects of gynecological patients seeking care in the private and public health networks. In this cross-sectional study we analyzed the records of 243 patients (122 public service patients and 121 private service ones), from January 2007 to January 2008. We excluded records of pregnant patients with vaginal bleeding, history of using vaginal creams or gels at intervals of less than 15 days and patients who had sexual intercourse within less than five days before their visit and with incomplete clinical data. Data were analyzed statistically using the Stata software, version 9.2, with a 5% level of significance. The mean age of the patients attending the public health service was 27±12 years-old and 25.9±10.4 years-old for patients attending the private health service, with no statistical difference between means (F=0.5 and p=0.4). Patients attending the public health service had lower education (p<0.001), they were preferentially housewives (p<0.001), began sexual life early, had a greater number of partners (p<0.001), of pregnancies (p<0.001) and of deliveries (p=0.004), and mainly used the condom as a contraceptive method (p=0.013). There was no statistical difference between groups regarding the history of sexual transmitted diseases, diagnosis of candidiasis, bacterial vaginosis, trichomoniasis, or neoplasia. Patients attending the public health service have a higher number of pregnancies and births. They are usually housewives with low educational level, their sex life begins early, and they have more partners. However, there was no difference between groups when evaluating breast diseases, gynecological infections, or cancer of the cervix, which suggests that socioeconomic status is not the only element in the determination of the disease and, therefore, other variables should be evaluated.
van Eijsden, Willem A; Raats, Jelle W; Mulder, Paul GH; van der Laan, Lijckle
Objective The primary objective was to identify possible risk factors for delirium in patients with critical limb ischemia undergoing surgery. The secondary objective was to study the effect of delirium on complications, the length of hospital stay, health care costs, and mortality. Methods All patients 65 years or older with critical limb ischemia undergoing surgery from February 2013 to July 2014 at Amphia Hospital, were included and followed up until December 31, 2014. Delirium was scored using the Delirium Observation Screening Scale (DOSS). Perioperative risk factors (age, comorbidity, factors of frailty, operation type, hemoglobulin, and transfusion) were collected and analyzed using logistic regression. Secondary outcomes were the number of complications, total hospital stay, extra health care costs per delirium, and mortality within 3 months and 6 months of surgery. Results We included 92 patients with critical limb ischemia undergoing surgery. Twenty-nine (32%) patients developed a delirium during admission, of whom 17 (59%) developed delirium preoperatively. After multivariable analysis, only diabetes mellitus (odds ratio [OR] =6.23; 95% confidence interval [CI]: 1.11–52.2; P=0.035) and Short Nutritional Assessment Questionnaire for Residential Care (SNAQ-RC) ≥3 (OR =5.55; 95% CI: 1.07–42.0; P=0.039) was significantly associated with the onset of delirium. Delirium was associated with longer hospital stay (P=0.001), increased health care costs, and higher mortality after 6 months (P<0.001). Conclusion Delirium is a common adverse event in patients with critical limb ischemia undergoing surgery with devastating outcome in the long term. Most patients developed delirium preoperatively, which indicates the need for early recognition and preventive strategies in the preoperative period. This study identified undernourishment and diabetes mellitus as independent risk factors for delirium. PMID:26451094
San José, A; San José, R; Zuza, B; Zunzarren, F; Luri, T
Under the conditions in which hospital activity is carried out, information can present important shortcomings. The aim of our study is to analyse the perception held by the patients of the information provided before an emergency surgical operation. The study was carried out by means of a survey to 115 patients (66 men and 49 women) before they received emergency surgery, in the Hospital de Navarra, in the months from March to December, 1999. The sample was selected when the researchers responsible for this work were on duty. The majority of the operations corresponded to general surgery (39.1%) and traumatology (42.6%). The average age was 45.7 years (SD = 21.57, range 15-85 years). The results express the relations and differences between the degree of information requested and the cultural level, age and sex of the patient. Eighty seven per cent of the patients had been informed about the operation they were about to undergo. Seventy eight per cent had not signed their consent for such an operation and the doctors signature appeared in only 6%. Some 8.7% did not feel they had received information from anybody. Seventy three per cent understood the information provided. The information was considered insufficient by 44.6% of the patients. Forty five per cent were able to express their doubts to the informant, and 96.4% of them were satisfied with the clarifications. The patients considered themselves to be informed about the surgical process, but very few of them about the most relevant sensations they were to experience in post-operation. Information should be supplied that includes both types of content.
Muhle, C; Brossmann, J; Biederer, J; Jahnke, Th; Grimm, J; Heller, M
Post-traumatic changes of the alar ligaments have been proposed to be the cause of chronic pain in patients after whiplash injury of the cervical spine. In addition to an asymmetric dens position, widening of the atlantodental distance to more than 12 mm can be an indirect sign of an alar ligament rupture. CT is recommended for detection of a avulsion fracture of the occipital condyle. Isolated ruptures of the alar ligaments are best visualized on MRI. In patients with chronic impairments after whiplash injuries changes of the alar ligaments on MRI must be differentiated from normal variants in healthy individuals.
Lăcătuşu, St; Ghiorghe, Angela
Patients treated with adrenal glucocorticoids may run a higher risk of dental caries, both as a result of their medical condition and of the physical and physiological effects of their pharmacotherapy. Our clinical study reports about patients treated with glucocorticoids who were also having an odonto-periodontal condition. They were examined and we found rampant caries and periodontal diseases. The slow evolution of asymptomatic periodontal disease encouraged destruction of teeth in root caries. The rampant caries were correlated with immunodeficiency and treatment of these caries must take into account the general treatment.
Douki, S; Nacef, F; Triki, T; Dalery, J
Bipolar disorders are one of the most potentially severe psychiatric disorders, implying a high degree of morbidity and incapacity for patients. Indeed, the World Health Organization in 1996 ranked them as the sixth most disabling condition worldwide. Major advances have been achieved in their understanding and management. However, too many patients do not yet benefit from them. As a matter of fact, bipolar disorders are still underestimated and under-recognized, being too often misdiagnosed with major depression or schizophrenia; the DSM-IV acknowledges the trend of clinicians to overdiagnose schizophrenia (rather than bipolar disorder), especially in ethnic groups and young people. Indeed, cultural factors may impact the symptomatology and the course of the disease. In particular, it has been shown by many authors that schizophrenia-like features are more likely to be found in southern countries. Similarly, the same authors have reported more manic than depressive episodes during the course of bipolar disorder. We aimed at comparing individuals with bipolar disorder living in two distinct geographic and cultural environments, namely France and Tunisia. Our study included two samples of 40 patients each, natives from the country, who were admitted during 2007 to the hospitals of Razi (Tunis, Tunisia) and Le Vinatier (Lyon, France) and suffering from a bipolar disorder according to the DSM-IV criteria. The French sample was constituted by all the patients meeting the inclusion criteria and the Tunisian one was selected by matching the patients by gender and duration of the disorder. Our results were consistent with the existing literature, showing many similarities and some marked differences such as a greater rate of manic episodes in the onset and during the course of the illness as well. The main result was the type of the first episode: mania in three quarter cases in Tunisia and depressive in the same proportion in France. The same figures applied to the
Psychodynamic processes in the sense of secondary psychic reactions which can be regularly demonstrated in tumor patients are described: object loss with subsequent narcissistic insult and aggression defense and the inherent defense mechanisms; especially is denial which appears as adaptive misadaptive. Dealing with tumor patients includes emotional receptivity on the one hand and supportive psychotherapy on the other. Furthermore, of additional importance is management of the relatives and pre-operative and post-operative care by means of selfhelp groups. From this broadly based psychological medical program arise possibilities for specific psychosomatic interventions to supplement the somatotherapeutic measures.
Sunder-Plassmann, G; Hörl, W H
Absolute and functional iron deficiency is the most common cause of epoetin (recombinant human erythropoietin) hyporesponsiveness in renal failure patients. Diagnostic procedures for determining iron deficiency include measurement of serum iron levels, serum ferritin levels, saturation of transferrin and percentage of hypochromic red blood cells. Patients with iron deficiency should receive supplemental iron, either orally or intravenously. Adequate intravenous iron supplementation allows reduction of epoetin dosage by approximately 40%. Intravenous iron supplementation is recommended for all patients undergoing haemodialysis and for pre-dialysis and peritoneal dialysis patients with severe iron deficiency. During the maintenance phase (period of epoetin therapy after correction of iron deficiency), the use of low-dose intravenous iron supplementation (10 to 20 mg per haemodialysis treatment or 100 mg every second week) avoids iron overtreatment and minimises potential adverse effects. Depending on the degree of pre-existing iron deficiency, markedly higher iron doses are necessary during the correction phase (period of epoetin therapy after correction of iron deficiency) [e.g. intravenous iron 40 to 100 mg per haemodialysis session up to a total dose of 1000 mg]. The iron status should be monitored monthly during the correction phase and every 3 months during the maintenance phase to avoid overtreatment with intravenous iron.
Cingano, L; Aonzo, E; Servetto, R; Calcagno, E
The aim of the present study was to highlight the relationship between the level of oral hygiene and the context in which the patient receives dental treatment, demonstrating that home service is essential and effective to decrease the incidence of periodontal diseases. The study was initially conducted on a heterogeneous sample of patients including 48 individuals with psycho-motor deficits. The study included 28 males (58.3%) and 20 females (41.7%) aged between 18 and 50 years, coming from two different sites ("Fa.Di.Vi… e oltre" and "Dentistry Unit, Istituto G. Gaslini" in Genoa). The patients were evaluated during the period 2008-2009. After this first pilot study, a clinical trial was conducted within the educational center "Il Granello", with the participation of 20 patients with disabilities. This study demonstrates that home assistance is essential and effective to decrease the incidence of those periodontal diseases induced by bacterial dental plaque accumulation, and associated with aggravating factors like the repeated use of drugs, such as benzodiazepines, phenylhydantoin, and cyclosporin A, that cause gingival hypertrophia. This study was proposed to demonstrate that the availability of a dental service within institutions could improve not only the dental-periodontal conditions of the participants, but also decrease the admission of these subjects to hospitals, contributing to the reduction of public expenditure by the Health Care System.
Filial obligation and its implications have been little-debated in ethics. The basis of informed consent in libertarian positions may be challenged by inclusion of others beyond the immediate doctor-patient relationship. Some of the literature arguing for and against filial duty, including feminist literature, is presented as a backdrop to the argument that a patient's family, and further, his or her community, contains the source of a broader perspective regarding decisions concerning his or her medical treatment. Communitarian models allow for a medical decision to be owned by some or all stakeholders in patient outcomes. Although such a position undoubtedly confronts traditional notions of autonomy, it offers an alternative that may positively impact the practice of medicine by providing a more holistic treatment context. New models premised on shared decision-making will be presented as frameworks that may provide a theoretical basis for greater physician input into medical decisions that impact a patient's family members and in more global terms, his or her community.
Chattopadhyay, P.K.; Dasgupta, S.; Laha, H.
SUMMARY Physiological (Skin conductance) and Psychological (State-trait anxiety) measures of anxiety were employed to assess the level of anxiety in 10 anxious neurotics, 10 schizophrenics and 10 normal subjects. Both the Physiological and Psychological measures were sensitive in detecting the level of anxiety in normals and patients. But interrelationships between these two measures were very poor. PMID:21965905
Gallstones occur in about one third of the patients having liver cirrhosis. Pigment gallstones are the most frequent type, while cholesterol stones represent about 15% of all stones in cirrhotics. Increased secretion of unconjugated bilirubin, increased hydrolysis of conjugated bilirubin in the bile, reduced secretion of bile acids and phospholipds in bile favor pigment lithogenesis in cirrhotics. Gallbladder hypomotility also contributes to lithogenesis. The most recent data regarding risk factors for gallstones are presented. Gallstone prevalence increases with age, with a ratio male/female higher than in the general population. Chronic alcoholism, viral C cirrhosis, and non-alcoholic fatty liver disease are the underlying liver diseases most often associated with gallstones. Gallstones are often asymptomatic, and discovered incidentally. If asymptomatic, expectant management is recommended, as for asymptomatic gallstones in the general population. However, a closer follow-up of these patients is necessary in order to earlier treat symptoms or complications. For symptomatic stones, laparoscopic cholecystectomy has become the therapy of choice. Child-Pugh class and MELD score are the best predictors of outcome after cholecystectomy. Patients with severe liver disease are at highest surgical risk, therefore gallstone complications should be treated using noninvasive or minimally invasive procedures, until stabilization of the patient condition.
Quinn, Nancy; Somers, Anne R.
Articulate consumer concern for the quality and price of health care is predicted to be a permanent feature of the working environment of health professionals. The American Hospital Association Patient's Bill of Rights is identified and analyzed as an important factor in the consumer revolution. (Author/EA)
Lanier, Jane C; Abrams, Annah N
Medulloblastoma, the most common malignant brain tumor of childhood, occurs in the posterior fossa, the part of the intracranial cavity that contains the brainstem and the cerebellum. The cerebellum is involved in many complex aspects of human behavior and function, and when it is disrupted or insulted, this can lead to significant sequelae in children with posterior fossa tumors. A constellation of impairing and distressing symptoms, including mutism, ataxia/hypotonia, and emotional lability, develops in approximately 25% of children after the surgical resection of posterior fossa tumors. These symptoms may impede treatment and frequently require intervention in order for children to be able to participate in their care. The eventual recovery of speech occurs for most, but with slowly improving dysarthria over many months. Behavioral changes and emotional lability also occur. This phenomenon has been classified differently by different investigators over the past 35 years. For the purposes of this article, the term posterior fossa syndrome is used to refer to the neuropsychiatric and behavioral features that compose this condition. The current review summarizes the development of the clinical understanding of this phenomenon with a focus on near- and long-term psychosocial and psychiatric implications. Also, clinical examples of the presentation, management, and lasting implications of this syndrome are provided. This review is intended to be a resource for clinicians who treat affected children. Cancer 2017;123:551-559. © 2016 American Cancer Society. © 2016 American Cancer Society.
Arranz, Laura-Isabel; Canela, Miguel-Ángel; Rafecas, Magda
Fibromyalgia (FM) is a common disease that results in poor quality of life, causing widespread musculoskeletal pain and stiffness, fatigue, sleep disorders, and cognitive impairment among other symptoms. The lack of an effective treatment makes necessary a multidimensional management. FM patients usually seek, from different sources, information about possible benefits from foods, nutrients, or diets. Our objective was to investigate the dietary awareness, food allergies and/or intolerances (FAIs), and nutritional supplement (NS) consumption of FM patients. A questionnaire was prepared with six questions regarding dietary habits, FAIs, and NS use. The questionnaire was filled out by patients recruited in local fibromyalgia associations. One hundred and one women were suffering from FM, diagnosed for more than 6 months, mean age of 53.88 ± 7.78 years; 30% of them changed their diet because of their disease, trying to improve it, and most of them were also using some NS; 7% of women in this group had FAIs, a figure slightly higher than the FAI prevalence in the general population (2-5%) and positively associated with consumption of supplements. Among NS users, some differences were observed; past NS users currently consume a wider range of products, more than new NS users. Magnesium was one of the supplements most recommended specifically for FM. Seventy-four percentage of these patients used NS following advice from health professionals. Once patients are diagnosed, they change their dietary habits and nutritional supplement intake, seeking nutritional strategies to improve their symptoms. Health professionals' advice plays a relevant role.
Zhang, Zong-Wang; Zhang, Xue-Jun; Li, Chang-Ying; Ma, Long-Le; Wang, Le-Xin
The use of fast-track general anesthesia in patients undergoing nonrobotically assisted and totally thoracoscopic cardiac surgeries has not been previously reported previously. A prospective clinical study. A university hospital. Ninety-six patients (41 males; mean age, 13.2 ± 6.2 years; range, 5-47 years). Nonrobotically assisted totally thoracoscopic surgeries were performed for atrial (n = 58) or ventricular septal defect (n = 32), tetralogy of Fallot (n = 2), left atrial myxoma (n = 3), and pulmonary valve stenosis (n = 1). Fast-track general anesthesia was induced with midazolam, propofol, fentanyl, and vecuronium and was maintained with remifentanil and sevoflurane. Cardiopulmonary bypass was established peripherally through the femoral vein and artery. All surgeries were successful. There were no perioperative mortality or major complications. The mean cardiopulmonary bypass and aortic cross-clamp times were 42 ± 21 minutes and 33 ± 8 minutes, respectively. In 82 cases, the heart regained beats automatically after the release of the aortic cross-clamp, whereas in 14 patients external defibrillation was required. Extubation was conducted in 32 patients (33.3%) in the operating room 15 minutes after the operation. The mean times of mechanical ventilation and stay in the intensive care unit were 1.5 ± 0.2 hours and 20.1 ±1.2 hours, respectively. Cardiopulmonary bypass for totally thoracoscopic cardiac surgery can be established through the femoral artery and femoral vein. With fast-track anesthesia, early extubation in the operating room can be achieved in more than one third of patients. Crown Copyright Â© 2012. Published by Elsevier Inc. All rights reserved.
Więdłocha, Magdalena; Marcinowicz, Piotr; Stańczykiewicz, Bartłomiej
The psychopathological symptoms occurring in the course of diseases associated with infections are often initially isolated and non-characteristic, and may cause diagnostic difficulties. Moreover, such disorders tend to be less responsive to psychiatric management. Among possible causes such as trauma, neoplasm and vascular changes, inflammatory changes of the brain as a result of a viral infection should also be considered. There were 452 registered cases of viral encephalitis in Poland in 2010, and although not very prevalent they remain a severe and life-threatening condition. What is more, the frequently occurring neurological and psychiatric complications of viral encephalitis often result in permanent disabilities, causing a significant decrease in the quality of life. This article presents the three types of encephalitis that are most prevalent among immunocompetent patients in Poland, i.e. herpes simplex encephalitis (HSE), tick-borne encephalitis (TBE) and herpes zoster encephalitis (HZE). The psychopathology of the acute phase of the infection, the residual symptoms, features apparent in imaging studies and some neuropathological aspects are also presented. The paper also focuses on psychiatric aspects of the diagnostics and treatment of the described conditions. The clinical pictures of these infections are quite specific, although they cover a wide range of symptoms, and these characteristic features are described. The aim of this review is also to show the significance of thorough diagnostics and a multidisciplinary approach to patients with viral CNS infections.
Borţun, D; Matei, C S
One of the weaknesses of the Romanian medical system is the absence of the communicational culture. This absence is felt at all levels of the healthcare system: doctor-patient relationship, doctor-patient's relatives relationship, labor relations within the medical teams and units, the management of the large hospitals and of the medical institutions from the public administration system and last, but not least, the relationships of these units and institutions with the public opinion and, particularly, with the stakeholders. This paper tackled with some of the principles and values that underlie an efficient communication, the default of which was felt in various domains of the Romanian medical life. They were analyzed from the perspective of the Romanian and international literature and the conclusions drawn might inspire proposals for the improvement of the medical education as well as for the professional development of the Romanian doctors.
Vileikyte, Loretta; Crews, Ryan T; Reeves, Neil D
The purpose of this review was to elucidate how psychological and biomechanical factors interrelate in shaping patients' experience with diabetic symmetric polyneuropathy (DSPN) and its sequela-diabetic foot ulceration (DFU). Recent findings emphasize the importance not only of neuropathic pain but also of other DSPN symptoms, such as unsteadiness. We highlight the negative spiral between unsteadiness, falls, and psychological distress. Moreover, unsteadiness is a key determinant of non-adherence to offloading resulting in the delayed DFU healing. While depression is an established predictor of incident DFU, findings linking depression and DFU healing remain inconclusive. Examination of physical activity in DFU development and healing represents the most recent application of research to this field. Research evidence indicates that DSPN markedly impairs physical and emotional functioning and suggests that there is an unmet need for the development of multifaceted interventions that address both psychological distress and biomechanical challenges experienced by patients with this debilitating complication of diabetes.
Poje, G; Zinreich, J S; Skitarelić, N; Đurić Vuković, K; Passàli, G C; Passàli, D; Mladina, R
Septal deformities are very frequent in patients suffering from chronic rhinosinusitis (CRS). The question is whether or not some types of septal deformities are involved more frequently in this process or not. The authors observed the incidence of particular types of septal deformities in a group of CRS patients using Mladina classification. The same has been done with a control group that consisted of healthy volunteers. In the literature, type 7 has been found very frequently, i.e. in nearly 30% of all CRS cases. Herein, type 7 was mostly composed of types 3 and 5. Type 3 can be accurately recognised on axial MSCT scans, while type 5 can be accurately recognised on coronal views. Concomitant septal surgery at the time of endoscopic sinus surgery is recommended.
Anastasia, Annalisa; Colletti, Chiara; Cuoco, Valentina; Quartini, Adele; Urso, Stefania; Rinaldi, Raffaella; Bersani, Giuseppe
Introduction Although adjustment disorder (AD) is considered as residual diagnosis and receives little attention in research, it plays an important role in clinical practice and also assumes an increasingly important role in the field of legal medicine, where the majority of diagnostic frameworks (eg, mobbing) often refer to AD. Our study aimed to look for specific stressor differences among demographic and clinical variables in a naturalistic setting of patients with AD. Methods A restrospective statistical analysis of the data of patients diagnosed with AD from November 2009 to September 2012, identified via manual search from the archive of the outpatient setting at the University Unit of Psychiatry “A. Fiorini” Hospital, Terracina (Latina, Italy), was performed. Results The sample consisted of 93 patients (46 males and 47 females), aged between 26 and 85, with medium–high educational level who were mainly employed. In most cases (54.80%), a diagnosis of AD with mixed anxiety and depressed mood was made. In all, 72% of the sample reported a negative family history for psychiatric disorders. In 22.60%, a previous history of psychopathology, especially mood disorders (76.19%), was reported. The main stressors linked to the development of AD were represented by working problems (32.30%), family problems (23.70%), and/or somatic disease (22.60%) with significant differences with respect to age and sex. Half of the patients were subjected to a single first examination; 24.47% requested a copy of medical records. Conclusion Confirming previous data from previous reports, our results suggest that AD may have a distinct profile in demographic and clinical terms. Increased scientific attention is hoped, particularly focused on addressing a better definition of diagnostic criteria, whose correctness and accuracy are critical, especially in situations with medicolegal implications. PMID:27099504
Petley, Graham W; Cotton, Angela M; Deakin, Charles D
Defibrillators are used to treat many thousands of people each year using very high voltages, but, despite this, reported injuries to rescuers are rare. Although even a small number of reported injuries is not ideal, the safety record of the defibrillator using the current protocol is widely regarded as being acceptable. There is increasing evidence that clinical outcome is significantly improved with continuous chest compressions, but defibrillation is a common cause of interruptions; even short interruptions, such as those associated with defibrillation, may detrimentally affect the outcome. This has led to discussions regarding the possibility of continuing chest compressions during defibrillation; a process involving a rescuer working in close proximity to voltages of up to 5000 V. Not only do voltages of this magnitude have significant implications for the rescuer performing chest compressions, but there are also risks to other rescuers in the proximity, the patient and other bystanders. Clearly any deviation from accepted practice should only be undertaken following careful consideration of the risks and benefits to the patient, rescuers and others. This review summarises the physical principles of electrical risk and identifies ways in which these could be managed. In doing so, it is hoped that in future it may be possible to deliver continuous and safe manual chest compressions during defibrillator discharge in order to improve patient outcome. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.
Primignani, Massimo; Tosetti, Giulia; La Mura, Vincenzo
Portal vein thrombosis (PVT) is a frequent complication in cirrhosis, particularly in advanced stages of the disease. As for general venous thromboembolism, risk factors for PVT are slow blood flow, vessel wall damage and hypercoagulability, all features of advanced cirrhosis. Actually, the old dogma of a hemorrhagic tendency in cirrhosis has been challenged by new laboratory tools and the clinical evidence that venous thrombosis also occurs in cirrhosis. The impaired hepatic synthesis of both pro- and anticoagulants leads to a rebalanced hemostasis, more liable to be tipped towards thrombosis or even bleeding. Conventional anticoagulant drugs (low molecular weight heparin or vitamin K antagonists) may be used in cirrhosis patients with PVT, particularly in those eligible for liver transplantation, to prevent thrombosis progression thus permitting/facilitating liver transplant. However, several doubts exist on the level of anticoagulation achieved as estimated by coagulation tests, on the efficacy of treatment monitoring and on the correct timing for discontinuation in non-transplant candidates, while in transplant candidates there is expert consensus on continuing anticoagulation until transplantation. The recent introduction of direct acting oral anticoagulant drugs (DOACs) in other clinical settings generates much interest on their possible application in patients with cirrhosis and PVT. However, DOACs were not evaluated yet in patients with liver disease and cannot be recommended for the present time. PMID:26689354
Ibáñez Bernáldez, M; Casado Blanco, M
Traditionally, medical care received by psychiatric patients involved their separation from the society through their isolation in closed institutions, thereby setting a stigmatising trend on the sick, and by extension on mental illness, a practice that somehow has remained until now. The profound changes in the field of psychiatry have been important and are reflected in the therapeutic field, as well as in the legislative one, and have contributed to establish changes concerning the social opinion about psychiatric patients. The purpose of this article is to review, from the critical perspective, the current legislative framework concerning the situation of involuntary psychiatric commitment as a therapeutic measure in the psychiatric patient, as well as the legal medical practice which indicates the lack of legal skills and ethical and professional conduct arising in the field of primary care. Copyright © 2017 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.
Rodriguez, G; De Leo, C; Girtler, N; Vitali, P; Grossi, E; Nobili, F
A survey in the cities of Genoa and Savona (Italy) was performed to examine stress levels in caregivers of patients with Alzheimer's disease in the context of a project of the Italian Ministry of Health named Cronos. It offered free anticholinesterase inhibitor therapy to patients who addressed dedicated Neurological Units; in this occasion caregivers could be invited to express the main difficulties encountered in managing demented people during an interview conducted by health personnel of the Neurophysiology Service. Caregivers were mainly women, daughters or spouses, with a medium educational level, retired, housekeepers, employees or teachers; they claimed a lowering of economic standard of living of the family owing to extra expenses for assistance. Satisfaction was expressed towards specialists, while support by general practitioners and other sanitary services was usually lacking and money contribution from the government or territorial services was considered inadequate. From the emotional point of view, caregivers claim loss of free time, friendships and hobbies, and feel isolated in the social context; sometimes the patient's death is thought of as a solution. A strong need for information and support is clearly emerging and any further interventions should take these requirements into consideration.
Bazzichi, Laura; Dini, Marco; Rossi, Alessandra; Corbianco, Silvia; De Feo, Francesca; Giacomelli, Camillo; Zirafa, Cristina; Ferrari, Claudia; Rossi, Bruno; Bombardieri, Stefano
Several studies have been carried out in order to investigate surface electromyography (SEMG) response on fibromyalgic (FM) patients. Some studies failed to demonstrate differences between FM patients and healthy individuals while others found differences in SEMG parameters. Different muscular region have been analyzed in FM patients and heterogeneity is also produced because of the different ways in which the SEMG technique is used. The aims of this study were to evaluate muscle modifications by SEMG analysis in FM women with respect to a sample of healthy controls and to investigate the relationships between SEMG parameters and the clinical aspects of the disease. SEMG was recorded in 100 FM women (48.10 +/- 11.96 yr) and in 50 healthy women (48.60 +/- 11.18 yr), from the tibialis anterior and the distal part of vastus medialis muscle during isometric contraction. Initial values and rate of change of median spectral frequency (MDF) and conduction velocity (CV) of the SEMG signal were calculated.The clinical parameters "Fibromyalgia Impact Questionnaire", pain, tender points, tiredness were evaluated and the relationships between these data and the SEMG results were also studied. For the statistical analysis Mann-Whitney test, chi-square test and Spearman correlation were used. MDF absolute values and the so-called Fatigue Index (FI) were significantly lower (p < 0.001) in both muscles studied in FM patients (MDF: 93.2 microV; FI: 1.10, 0.89) with respect to healthy controls (MDF: 138.2 microV; FI: 2.41, 1.66) and a smaller reduction in the percentage values of MDF was observed in FM patients vs controls (22% vs 38%). A significant correlation was found between the SEMG parameter decrement of normalized median frequency (MNF) (%) and seriousness of FM (evaluated by means of tender points). We have found some interesting muscle modifications in FM patients with respect to healthy controls, regarding MDF, CV and FI values which resulted significantly lower in FM
Skibitskiy, V V; Fendrikova, A V; Sirotenko, D V; Skibitskiy, A V
Determination of the effectiveness and safety of different dosing regimens during the day (in the morning or at bedtime) combination therapy including azilsartan medoxomil in patients with essential hypertension and metabolic syndrome (MS). The study included 60 patients with uncontrolled hypertension and MS (age median - 59 (54-65) years). Patients were randomized in two groups: group 1 (n=30) received azilsartan medoxomil 40 mg/day, and indapamide retard 1,5 mg/day in the morning; group 2 (n=30)- azilsartan medoxomoil 40 mg at bedtime and indapamide retard 1,5 mg in the morning. All patients at baseline, and after 4 and 12weeks assessed levels of office blood pressure (BP), heart rate (HR); at baseline and after 12 weeks was conducted ambulatory BPmonitoring (ABPM). Evaluated the main indicators of circadian blood pressure profile, as well as the central aortic pressure (CAP) and the rigidity of the vascular wall: systolic, diastolic, and mean arterial pressure in the aorta, aortic augmentation index, pulse wave velocity in the aorta, the augmentation index. Study results were processed using the program Statistica 6.1 by methods nonparametric statistics. Regardless of the regimen used azilsartan destination as part of combination therapy after 4 weeks showed a significant (p<0.05) reduction in SBP and DBP. After 12 weeks of observation target blood pressure was recorded 27 (90%) patients of group 1 and 29 (96.7%)- group2. As a result of ABPM after 12 weeks of treatment in both groups showed a statistically significant (p<0.05) improvement in all parameters investigated. However, positive changes such indicators as an index time of hypertension in the day and night hours, SBP, DBP, and BP variability during the night, the morning rise of systolic as well as the speed of morning rise in SBP and DBP were more pronounced in the appointment azilsartan medoxomil at bedtime compared to morning reception. The use of both treatment regimens provided significant (p<0
Jafari, Javad; Karimi Moonaghi, Hosein; Zary, Nabil; Masiello, Italo
Objective The objective of this article is to explore the educational needs and design aspects of personalised internet-enabled education for patients with diabetes in Iran. Design Data were collected using semistructured interviews and then qualitatively analysed using inductive content analysis. Participants 9 patients with type 2 diabetes were included. Inclusion criteria were access to and knowledge on how to use the internet. The selection ensured representation based on gender, age, occupation and educational background. Setting The sample population was patients with diabetes who were admitted to an outpatient diabetes clinic in Mashhad, a large city of Iran with about 3 million inhabitants. Results 4 core categories emerged from the data: (1) seeking knowledge about diabetes, including specific knowledge acquisition, patient's interactions and learning requirements; (2) teaching and learning, including using different teaching methods and different ways to learn about the disease; (3) facilitators, including internet and mobile phone use to learn about the disease; and (4) barriers, including lack of internet access, uncertainty of access to the internet and lack of website in the local language and also perceived cultural barriers, such as patients' fears of the internet, lack of time and awareness. Conclusions This study provides a better understanding of the patient's educational expectations and technical needs in relation to internet-enabled education. This knowledge will inform the development of functional mock-ups in the next research phase using a design-based research approach in order to design internet-enabled patient education for self-management of diabetes. PMID:27799245
Pires, Carla Andréa Avelar; Jucá Neto, Fernando Octávio Machado; de Albuquerque, Nahima Castelo; Macedo, Geraldo Mariano Moraes; Batista, Keila de Nazaré Madureira; Xavier, Marília Brasil
Background Leprosy, caused by Mycobacterium leprae, can lead to scarring and deformities. Human immunodeficiency virus (HIV), a lymphotropic virus with high rates of replication, leads to cell death in various stages of infection. These diseases have major social and quality of life costs, and although the relevance of their comorbidity is recognized, several aspects are still not fully understood. Methodology/Principal Findings Two cohorts of patients with leprosy in an endemic region of the Amazon were observed. We compared 40 patients with leprosy and HIV (Group 1) and 107 leprosy patients with no comorbidity (Group 2) for a minimum of 2 years. Group 1 predominantly experienced the paucibacillary classification, accounting for 70% of cases, whereas Group 2 primarily experienced the multibacillary classification (80.4% of cases). There was no significant difference in the prevalence of leprosy reactions among the two groups (37.5% for Group 1 vs. 56.1% for Group 2), and the most frequent reaction was Type 1. The appearance of Group 1 patients’ reversal reaction skin lesions was consistent with each clinical form: typically erythematous and infiltrated, with similar progression as those patients without HIV, which responded to prednisone. Patients in both groups primarily experienced a single episode (73.3% in Group 1 and 75% in Group 2), and Group 1 had shorter reaction periods (≤3 months; 93.3%), moderate severity (80%), with 93.3% of the patients in the state of acquired immune deficiency syndrome, and 46.7% presenting the reaction at the time of the immune reconstitution inflammatory syndrome. Conclusions/Significance This study used a large sample and makes a significant contribution to the clinical outcomes of patients in the reactive state with comorbid HIV and leprosy. The data indicate that these diseases, although concurrent, have independent courses. PMID:26029928
Jafari, Javad; Karimi Moonaghi, Hosein; Zary, Nabil; Masiello, Italo
The objective of this article is to explore the educational needs and design aspects of personalised internet-enabled education for patients with diabetes in Iran. Data were collected using semistructured interviews and then qualitatively analysed using inductive content analysis. 9 patients with type 2 diabetes were included. Inclusion criteria were access to and knowledge on how to use the internet. The selection ensured representation based on gender, age, occupation and educational background. The sample population was patients with diabetes who were admitted to an outpatient diabetes clinic in Mashhad, a large city of Iran with about 3 million inhabitants. 4 core categories emerged from the data: (1) seeking knowledge about diabetes, including specific knowledge acquisition, patient's interactions and learning requirements; (2) teaching and learning, including using different teaching methods and different ways to learn about the disease; (3) facilitators, including internet and mobile phone use to learn about the disease; and (4) barriers, including lack of internet access, uncertainty of access to the internet and lack of website in the local language and also perceived cultural barriers, such as patients' fears of the internet, lack of time and awareness. This study provides a better understanding of the patient's educational expectations and technical needs in relation to internet-enabled education. This knowledge will inform the development of functional mock-ups in the next research phase using a design-based research approach in order to design internet-enabled patient education for self-management of diabetes. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.
Dubler, S; Zimmermann, S; Fischer, M; Schnitzler, P; Bruckner, T; Weigand, M A; Frank, U; Hofer, S; Heininger, A
In the past, anaesthetic breathing circuits were identified as a source of pathogen transmission. It is still debated, whether breathing circuits combined with breathing system filters can be safely used for more than 1 day. The aim of this study was to evaluate the transmission risk of bacteria and also viruses via breathing circuits after extended use. The inner and outer surface of 102 breathing circuits used for 1 day and of 101 circuits used for 7 days were examined for bacteria and viruses. Additionally, 10 and 20 breathing circuits each were examined after use on patients with pulmonary virus infection and with multidrug-resistant organism (MDRO) colonisation/infection respectively. Bacteria were detected by standard microbiological procedures; PCR techniques were applied for herpes simplex virus, cytomegalovirus, influenza, parainfluenza and respiratory syncytial virus. Endoluminal bacterial contamination of breathing circuits remained unchanged after 7-day vs. 1-day use (5.9% vs. 7.8%) [CI95%: -0.0886-0.0506, pnon-inferiority 0.0260]. Only outside surface contamination with bacteria belonging to environmental species or human flora increased (16.8 vs. 6.9%) [CI 95%: 0.0118 - 0.1876, pnon-inferiority 0.8660]. Viruses occurred on the patient side, but not in breathing circuits. No MDRO occurred in the 20 circuits after use on patients harbouring such germs. Endoluminal contamination of breathing circuits with bacteria did not increase after extended use. No viruses were detected in the breathing circuits using filters. Based on our results, the extended use of ABC without exceptions appears safe, if a high level of anaesthesia workplace cleaning is secured. © 2016 The Acta Anaesthesiologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.
Servidoni, Maria F; Sousa, Marisa; Vinagre, Adriana M; Cardoso, Silvia R; Ribeiro, Maria A; Meirelles, Luciana R; de Carvalho, Rita B; Kunzelmann, Karl; Ribeiro, Antônio F; Ribeiro, José D; Amaral, Margarida D
Measurements of CFTR function in rectal biopsies ex vivo have been used for diagnosis and prognosis of Cystic Fibrosis (CF) disease. Here, we aimed to evaluate this procedure regarding: i) viability of the rectal specimens obtained by biopsy forceps for ex vivo bioelectrical and biochemical laboratory analyses; and ii) overall assessment (comfort, invasiveness, pain, sedation requirement, etc.) of the rectal forceps biopsy procedure from the patients perspective to assess its feasibility as an outcome measure in clinical trials. We compared three bowel preparation solutions (NaCl 0.9%, glycerol 12%, mannitol), and two biopsy forceps (standard and jumbo) in 580 rectal specimens from 132 individuals (CF and non-CF). Assessment of the overall rectal biopsy procedure (obtained by biopsy forceps) by patients was carried out by telephone surveys to 75 individuals who underwent the sigmoidoscopy procedure. Integrity and friability of the tissue specimens correlate with their transepithelial resistance (r = -0.438 and -0.305, respectively) and are influenced by the bowel preparation solution and biopsy forceps used, being NaCl and jumbo forceps the most compatible methods with the electrophysiological analysis. The great majority of the individuals (76%) did not report major discomfort due to the short procedure time (max 15 min) and considered it relatively painless (79%). Importantly, most (88%) accept repeating it at least for one more time and 53% for more than 4 times. Obtaining rectal biopsies with a flexible endoscope and jumbo forceps after bowel preparation with NaCl solution is a safe procedure that can be adopted for both adults and children of any age, yielding viable specimens for CFTR bioelectrical/biochemical analyses. The procedure is well tolerated by patients, demonstrating its feasibility as an outcome measure in clinical trials.
Background Measurements of CFTR function in rectal biopsies ex vivo have been used for diagnosis and prognosis of Cystic Fibrosis (CF) disease. Here, we aimed to evaluate this procedure regarding: i) viability of the rectal specimens obtained by biopsy forceps for ex vivo bioelectrical and biochemical laboratory analyses; and ii) overall assessment (comfort, invasiveness, pain, sedation requirement, etc.) of the rectal forceps biopsy procedure from the patients perspective to assess its feasibility as an outcome measure in clinical trials. Methods We compared three bowel preparation solutions (NaCl 0.9%, glycerol 12%, mannitol), and two biopsy forceps (standard and jumbo) in 580 rectal specimens from 132 individuals (CF and non-CF). Assessment of the overall rectal biopsy procedure (obtained by biopsy forceps) by patients was carried out by telephone surveys to 75 individuals who underwent the sigmoidoscopy procedure. Results Integrity and friability of the tissue specimens correlate with their transepithelial resistance (r = −0.438 and −0.305, respectively) and are influenced by the bowel preparation solution and biopsy forceps used, being NaCl and jumbo forceps the most compatible methods with the electrophysiological analysis. The great majority of the individuals (76%) did not report major discomfort due to the short procedure time (max 15 min) and considered it relatively painless (79%). Importantly, most (88%) accept repeating it at least for one more time and 53% for more than 4 times. Conclusions Obtaining rectal biopsies with a flexible endoscope and jumbo forceps after bowel preparation with NaCl solution is a safe procedure that can be adopted for both adults and children of any age, yielding viable specimens for CFTR bioelectrical/biochemical analyses. The procedure is well tolerated by patients, demonstrating its feasibility as an outcome measure in clinical trials. PMID:23688510
Contaifer, Daniel; Carl, Daniel E; Warncke, Urszula Osinska; Martin, Erika J; Mohammed, Bassem M; Van Tassell, Benjamin; Brophy, Donald F; Chalfant, Charles E; Wijesinghe, Dayanjan S
Hemodialysis (HD) and peritoneal dialysis (PD) are the primary means of managing end stage renal disease (ESRD). However, these treatment modalities are associated with the onset of coagulation abnormalities. Effective management of coagulation risk among these patients requires the identification of surrogate markers that provide an early indication of the coagulation abnormalities. The role of sphingolipids in the manifestation and prediction of coagulation abnormalities among dialysis patients have never been investigated. Herein, we report the first instance of an in depth investigation into the sphingolipid changes among ESRD patients undergoing HD and PD. The results reveal distinct differences in terms of perturbations to specific sphingolipid biosynthetic pathways that are highly dependent on the treatment modality. Our studies also demonstrated strong correlation between specific sphingolipids and coagulation parameters, such as HexCer(d18:1/26:0) and maximal amplitude (MA), SM(d18:1/24:1) and tissue factor pathway inhibitor, and sphingosine 1-phosphate d18:1 and FX (Spearman ρ of 0.93, 0.89, and -0.89, respectively). Furthermore, our study revealed the potential for using HexCer(d18:1/22:0), HexCer(d18:1/24:0), and HexCer(d18:1/26:0) (r(2) = 0.71, 0.82, and 0.63, respectively) and coagulation parameter MA (r(2) = 0.7) for successful diagnosis of differential coagulopathies among ESRD patients undergoing HD, providing an opportunity toward personalized disease management. Copyright © 2017 by the American Society for Biochemistry and Molecular Biology, Inc.
Edrees, Hadeel Y; Ohlin, Johan; Ahlquist, Michael; Tessma, Mesfin K; Zary, Nabil
The aim of this study was to assess the perceived benefits of video-mediated demonstrations in learning endodontics. Participants in the study were 75 third-year students enrolled in the undergraduate dentistry program at Karolinska Institute, Stockholm, Sweden. After the endodontic preclinical course, the students were introduced to the treatment protocol in the clinic by watching two live patient-demonstrated videos. The first video demonstrated how to communicate with the patient and perform diagnosis and root canal instrumentation. The second video illustrated how to perform bacterial sampling and root canal filling. After the students watched each video, a questionnaire was used to evaluate their opinions about various steps of the endodontic treatment protocol and the benefit of such educational material for their practice. Of the total 75 students, 72 completed the first questionnaire (96% response rate), and 65 completed the second questionnaire (87% response rate). The results showed that the students perceived high value in the video demonstrations related to treatment procedure. A statistically significant difference was observed between the perceived benefits of the first and second sessions in communication and treatment procedure (p<0.001). Further studies are needed to assess improvement in the design and delivery format for video demonstrations to enhance their effectiveness as a teaching modality for endodontics.
Luo, John; Logan, Christopher; Long, Thomas P; Bercovitch, Lionel
As Internet access has become ubiquitous, electronic mail (e-mail) is becoming more widely used as a means of communication between patient and dermatologist. Dealing with the ethical, legal, and clinical consequences has lagged behind the technology. Privacy of e-mail cannot exist without security, and as a foundation for understanding e-mail security, the elements of e-mail technology are reviewed. One of the greatest risks of e-mail is compromise of privacy. Although self-documenting and convenient, e-mail lacks the emotional cues of face-to-face encounters, is asynchronous and not always read in timely fashion, and is not suitable for certain clinical concerns such as urgent matters and cancer diagnoses. Legal issues relating to federal privacy regulations, ethical issues such as autonomy and justice, and guidelines for the use of e-mail in clinical practice are reviewed. Case scenarios are used to present the pitfalls in clinical e-mail encounters, including establishment of the doctor-patient relationship, diagnosis and treatment over the Internet, and curbside consultations.
Lintermans, Lucas L; Rutgers, Abraham; Stegeman, Coen A; Heeringa, Peter; Abdulahad, Wayel H
Persistent expansion of circulating CD4(+) effector memory T cells (TEM) in patients with granulomatosis with polyangiitis (GPA) suggests their fundamental role in disease pathogenesis. Recent studies have shown that distinct functional CD4(+) TEM cell subsets can be identified based on expression patterns of chemokine receptors. The current study aimed to determine different CD4(+) TEM cell subsets based on chemokine receptor expression in peripheral blood of GPA patients. Identification of particular circulating CD4(+) TEM cells subsets may reveal distinct contributions of specific CD4(+) TEM subsets to the disease pathogenesis in GPA. Peripheral blood of 63 GPA patients in remission and 42 age- and sex-matched healthy controls was stained immediately after blood withdrawal with fluorochrome-conjugated antibodies for cell surface markers (CD3, CD4, CD45RO) and chemokine receptors (CCR4, CCR6, CCR7, CRTh2, CXCR3) followed by flow cytometry analysis. CD4(+) TEM memory cells (CD3(+)CD4(+)CD45RO(+)CCR7(-)) were gated, and the expression patterns of chemokine receptors CXCR3(+)CCR4(-)CCR6(-)CRTh2(-), CXCR3(-)CCR4(+)CCR6(-)CRTh2(+), CXCR3(-)CCR4(+)CCR6(+)CRTh2(-), and CXCR3(+)CCR4(-)CCR6(+)CRTh2(-) were used to distinguish TEM1, TEM2, TEM17, and TEM17.1 cells, respectively. The percentage of CD4(+) TEM cells was significantly increased in GPA patients in remission compared to HCs. Chemokine receptor co-expression analysis within the CD4(+) TEM cell population demonstrated a significant increase in the proportion of TEM17 cells with a concomitant significant decrease in the TEM1 cells in GPA patients compared to HC. The percentage of TEM17 cells correlated negatively with TEM1 cells in GPA patients. Moreover, the circulating proportion of TEM17 cells showed a positive correlation with the number of organs involved and an association with the tendency to relapse in GPA patients. Interestingly, the aberrant distribution of TEM1 and TEM17 cells is modulated in CMV
Haraguchi, M; Shimura, S; Shirato, K
Morphometric analysis of airways was performed in autopsied lungs from four patients with pulmonary emphysema (PE) followed by bronchial-asthma (BA)-like attacks (Group PE+BA) (four males, 72 +/- 9 yr). The results were compared with those from five pulmonary emphysema patients (Group PE) (five males, age 71 +/- 4 hr), three patients with bronchial asthma (Group BA) (one female and two males, age 65 +/- 7 yr), and four control subjects with no pulmonary diseases (Group Cont) (one female, three males, age 64 +/- 4 yr). The proportion of gland area to bronchial wall (gland%), ratio of goblet-cell occupancy to the total epithelial layer (goblet%), thickness of the basement membrane, amount of intraluminal mucus (mucus occupying ratio; MOR%), and number of various cell types per square millimeter in airway walls in a section 4 microns thick were measured in central (3 to 8 mm diameter) and peripheral airways (2 mm or less diameter). Gland% for the PE+BA group was significantly greater than that for the Cont group, whereas it did not differ significantly from that of the PE or BA groups. Goblet% and thickness of the basement membrane in central and/or peripheral airways in Group PE+BA were significantly greater than those in Group Cont, whereas those in Group PE were similar to those in Group Cont. Although not statistically significant, MOR% in central and peripheral airways from Group PE+BA showed a similar value to that in Group BA, whereas MOR% in Group PE was the same as that in Group Cont. The eosinophil number in peripheral airways walls in Group PE+BA showed a similar value to that in Group BA, which was significantly greater than in Group Cont. Other cells (macrophages, lymphocytes, and neutrophils) showed similar values among Groups PE+BA, PE, and BA. The number of eosinophils in central and/or peripheral airways correlated significantly with both goblet% and BMT, whereas other cells did not. These findings indicate that the airways of Group PE+BA are
Klemets, Joakim; Toussaint, Pieter
An inherent part of nurses' work is to handle nurse calls that often cause challenging interruptions to ongoing activities. In situations when nurses are interrupted by a nurse call, they need to decide whether to continue focusing on the task at hand or to abort and respond to the nurse call. The difficult decision is often influenced by a number of factors and can have implications for patient safety and quality of care. The study investigates how technology could be designed to support nurses' handling of nurse calls by allowing patients to communicate a more contextualised message revealing their intention to the nurse when issuing a nurse call. Through a qualitative methodology employing a scenario-based design approach, three different nurse call system concepts are evaluated by nurses from different departments of a Norwegian university hospital. Nurses find the uncertainty of not knowing the reason behind a nurse call stressful in situations where they are required to prioritise either the calling patient or a patient they are currently nursing. Providing information about a patient's intention behind a nurse call influences the nurse's decision to various degrees depending on the situation in which they find themselves and the information that is communicated. The nurses' reflections suggested that the message communicated should be designed to contain neither too little nor too much information about the patient's needs. A nurse call system that allows nurses to discern the reason behind a nurse call allows them to make a more accurate decision and relieves stress. In particular, the information communicated would reduce uncertainty and lessen nurses' dependence on other factors in their decision. The design of such a system should, however, carefully consider the needs of the department in which it is deployed. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
Borţun, D; Matei, CS
One of the weaknesses of the Romanian medical system is the absence of the communicational culture. This absence is felt at all levels of the healthcare system: doctor-patient relationship, doctor-patient’s relatives relationship, labor relations within the medical teams and units, the management of the large hospitals and of the medical institutions from the public administration system and last, but not least, the relationships of these units and institutions with the public opinion and, particularly, with the stakeholders. This paper tackled with some of the principles and values that underlie an efficient communication, the default of which was felt in various domains of the Romanian medical life. They were analyzed from the perspective of the Romanian and international literature and the conclusions drawn might inspire proposals for the improvement of the medical education as well as for the professional development of the Romanian doctors. PMID:28255380
Paetz, Jürgen; Arlt, Björn; Erz, Kerstin; Holzer, Katharina; Brause, Rüdiger; Hanisch, Ernst
Since many years, medical researchers have investigated the mechanisms that may cause a septic shock. Despite many approaches that analyzed smaller parts of the relevant data or single variables, respectively, no larger database with all the possible relevant data existed. Our work was to bridge this gap. We built a large database for abdominal septic shock patients. While building it, we were confronted with many problems concerning the database realization and the data quality. Thus, we will demonstrate how we built our database and how we assured data quality. This is of interest for all medical or computer scientists who are concerned with building medical databases with retrospective data, e.g. for data mining purposes.
Migliore, E; Serraino, C; Brignone, C; Ferrigno, D; Cardellicchio, A; Pomero, F; Castagna, E; Osenda, M; Fenoglio, L
Pasteurellosis is a zoonosis often caused by cat or dog bites or scratches, or by direct exposure to their secretions. Pasteurella multocida is the main pathogen involved in infections through domestic animal bites; generally a local infection characterized by its particular virulence with consequent rapid onset. Serious infection has also been reported in persons affected by comorbidity without domestic animal bite injuries. Here we report the case of a woman with lower limb exudating vesicular skin ulcers affected by liver cirrhosis, bilateral knee arthritis, septicemia with positive blood culture and synovial fluid culture for Pasteurella multocida. The etiology of Pasteurella multocida must be borne in mind in cases of sepsis in immunodeficient individuals, such as the cirrhotic patient, as well as exposure to domestic animals.
The abnormalities in bone and mineral metabolism in chronic kidney disease patients are associated with an increased risk of fractures, vascular calcifications and cardiovascular diseases. A few decades ago hyperphosphatemia and the common development of secondary hyperparathyroidism were thought to be the main problem to deal with. Since dietary phosphate restriction and haemodialysis were not proven to be sufficient measures to reduce phosphorus, phosphate-binding therapy has been widely instituted as a treatment option. Various types of phosphate binders employed over the years have contributed to the changing spectrum of renal osteodystrophy from high to low bone turnover along with the shift from hypocalcemia and negative calcium balance towards hypercalcemia and the positive calcium balance. Thus, hypercalcemia instead of hyperphosphatemia is nowadays associated with the increased risk of vascular calcification, morbidity and mortality in the dialysis population. Besides the very expensive non-calcium based phosphate binders, at least two common tools may be helpful in the treatment of hypercalcemia and adynamic bone. A reduced daily use of calcium carbonate/acetate up to 1g per main meal is an easily manageable and inexpensive tool. The second option for stimulation of parathyroid gland activity and bone turnover is the lowering of the dialysate calcium concentration. In conclusion, an aggressive treatment of hyperphosphatemia and calcium overload might lead towards an opposite effect of hypoparathyroidism and hypercalcemia. Reasonable treatment strategies based on a careful monitoring should be employed in order to prevent related consequences and to contribute to a better long-term quality of life and survival of dialysis patients.
Guerado, Enrique; Cruz, Encarnacion; Cano, Juan Ramon; Crespo, Pascual Vicente; Alaminos, Miguel; Sánchez-Quevedo, Maria del Carmen; Campos, Antonio
Elderly people, due to neurological conditions and muscular atrophy, present a greater propensity to falls and thus are very susceptible to hip fractures. Other variables, such as osteoporosis, may also be related to the etiopathogenesis of hip fractures, although osteoporosis is in fact a concurrent disease, and merely a coadjutant cause. Nonetheless, osteoporosis can make fracture patterns more severe and interfere with osteosynthesis. Osteoporosis is the radiological image of osteopenia, a pathological concept meaning a smaller quantity of bone per unit of volume. The radiological expression of osteopenia is therefore that of bone tissue with a lower radiological density than normal. In the context of hip fractures, bone mineral density and bone architecture of the femoral neck together with protein expression profiles and cross-links of this anatomical area are of special interest which is reviewed in the current paper. Spatial variations in bone mineral density in the femoral neck were found in the literature with increased porosity from the periosteal to the endosteal region and also from the distal to the proximal part of the femoral neck. Furthermore, increased crystal size, increased cortical porosity, reduced osteocyte lacunar density and an increased Ca/P ratio associated with higher concentrations of Ca and P were described in hip fracture patients compared to control patients. Osteocalcin/collagen type 1 expression ratio and enzymatic cross-link content in high-density bone was found to be significantly lower in hip fractures compared to controls. In conclusion, further research in bone mineral density and associated parameters are of interest to deepen the understanding of osteoporotic hip fractures. Copyright © 2016 Elsevier Ltd. All rights reserved.
Kapoor, A K; Deepani, Vijit; Dhall, Meenal; Kapoor, Satwanti
Socio-economic and health-related factors have a significant impact on tuberculosis (TB) incidence among population residing in resource-scare settings. To evaluate the pattern of socio-economic and health-related factors among TB patients and control in Delhi, India. The present cross-sectional study was performed among 893 TB patients (or cases) and 333 healthy disease-free controls. The data for the present study was obtained from several district TB centres in north, west and south Delhi. The collected data was edited, coded and statistical analysed with the help of SPSS 20.0 version. Illiteracy and primary education were significant risk factors being associated with a TB. Rented housing condition had an odds ratio (OR) of 1.4 (95% confidence interval [CI]: 1.09-1.89) compared to owned housing condition. 3-5 individuals per room were 3 times more likely to be associated with a case of TB (95% CI: 2.49-4.41). Migrant individuals were 13 times more likely to be associated with a case of TB (95% CI: 8.77-19.78) in comparison to settled population. Daily consumption of non-vegetarian food also significantly contributed to case of TB with an OR of 3.4 (95% CI: 2.51-4.72). Loss of appetite and family TB served as significant health-related factors associated with TB risk. Lower educational status, rented household, individuals per room (as a measure of overcrowding) and migratory status served as prominent risk factors for TB disease. Preference and frequency of non-vegetarian food being consumed, night sweating, weight loss, loss of appetite, earlier TB and family TB were principle health-related risk factors associated with TB disease. Copyright © 2016 Tuberculosis Association of India. Published by Elsevier B.V. All rights reserved.
Gurgey, Aytemiz; Balta, Gunay; Gumruk, Fatma; Altay, Cigdem
A total of 360 pediatric patients aged 1 month to 18 years were diagnosed as having thrombosis between January 1998 and April 2003. Of these patients, those aged 11-18 years (n=131) were regarded as adolescents and the rest as children. The proportion of adolescents in the whole group excluding the neonates was 36%. The peak age of diagnosis in adolescents was 11-14 years, comprising 58% of all thrombotic events in adolescents. In 73% of the adolescents, there was at least one risk factor. The four most common underlying disorders were infection, malignancy, connective tissue and cardiac disorders, in decreasing order of frequency. In children, on the other hand, infection was followed by congenital heart disease, malignancy and liver disease. Three common types of thrombosis in adolescents were deep venous thrombosis, cerebro-vascular events and portal venous thrombosis, while cerebro-vascular events were the most common in children. The frequency of factor V G1691A mutation in the adolescents (22.1%) was significantly higher than that found in a group of healthy controls (7.4%) and this mutation was associated with a 3.6-fold increase in the risk of developing thrombosis (95% confidence interval, 1.4-9.0). The carrier frequency of prothrombin G20210A mutation (3.1%) in adolescents did not differ significantly from that of the healthy population (2.3%) and no association was observed between this mutation and a risk of developing thrombosis in this group (odds ratio, 1.3; 95% confidence interval, 0.2-7.5). The rate of recurrent thrombosis was 6%.
Musharraf, Syed Ghulam; Iqbal, Ayesha; Ansari, Saqib Hussain; Parveen, Sadia; Khan, Ishtiaq Ahmad; Siddiqui, Amna Jabbar
β-Thalassemia is one of the most prevalent forms of congenital blood disorders characterized by reduced hemoglobin levels with severe complications, affecting all dimensions of life. The mechanisms underlying the phenotypic heterogeneity of β-thalassemia are still poorly understood. We aimed to work over metabolite biomarkers to improve mechanistic understanding of phenotypic heterogeneity and hence better management of disorder at different levels. Untargeted serum metabolites were analyzed after protein precipitation and SPE (solid phase extraction) from 100 β-thalassemia patients and 61 healthy controls using GC-MS. 40 metabolites were identified having a significance difference between these two groups at probability of 0.05 and fold change >1.5. Out of these 40 metabolites, 17 were up-regulated while 23 were down-regulated. PCA and PLS-DA model was also created that revealed a fine separation with a sensitivity of 70% and specificity of 100% on external validation of samples. Metabolic pathway analysis revealed alteration in multiple pathways including glycolysis, pyruvate, propanoate, glycerophospholipid, galactose, fatty acid, starch and sucrose metabolism along with fatty acid elongation in mitochondria, glycerolipid, glyoxylate and dicarboxylate metabolism pointing towards the shift of metabolism in β-thalassemia patients in comparison to healthy individuals. PMID:28198811
Ulbright, Thomas M; Young, Robert H
Some patients with disorders of sex development (DSDs), previously known as intersex disorders, have abnormal gonadal development and an increased risk of germ cell tumors. Because of their relative rarity, however, many pathologists are unfamiliar with the morphological findings in the gonads of DSD patients and their clinical significance. This review concentrates on some of the most common DSDs where gonadal specimens may come to the attention of pathologists. It highlights the findings in gonadal dysgenesis, a DSD with a spectrum of clinical, pathologic, and molecular features but with the shared attributes of having both Y chromosomal material (even if in very limited amounts) in the gonad and also having mutations or deletions in genes necessary for normal gonadal development, mostly in those upstream of the SOX9 gene. This situation results in testicular tissue lacking normal Sertoli cells, which are now considered an essential element for the normal maturation of the primordial germ cells that migrate to the gonad from the embryonic yolk sac. Germ cells with delayed maturation mimic neoplastic germ cells, but there are both morphological and immunohistochemical differences. If the gonad having germ cells with delayed maturation also harbors the TSPY gene on the GBY locus of the Y chromosome, the cells may undergo neoplastic transformation and result in the distinctive gonadoblastoma, whose pathologic features are explored at length herein, including its potential for variant morphologies, such as a "dissecting" pattern. Another important DSD, the androgen insensitivity syndrome (AIS), is discussed at length, including the varied appearances of the testis and its distinctive lesions-hamartomas and Sertoli cell adenomas. The potential for germ cell neoplasia in the partial AIS is also discussed and contrasted with that of the complete AIS. A third major topic is ovotesticular DSD (true hermaphroditism). The clinical features and morphology of this condition
In the articles 2, 19 and 97 GG the "Human Rights" and the "Human Dignity" are designed by the paramount constitutional law to be important guidelines for public activities. From these conceptions derives the implementation in the individual Federal States, which carry out the "Laws regarding the legal procedure for the deprivation of liberty" (1956) as well as the "Accomodation Laws". It differs in many administrative details, in its basic structure it is, however binding. Careful consideration of a case according to the Proportional Principles (Right of the Individual-Claim of the society for protection and security) on the one hand and legal control in all stages of the proceeding on the other hand are thereby safeguarded. First such important conceptions as "mental disease, mental weakness, threat, addiction, neglect, public nuisance, indecent assault" are discussed in line with the highest jurisdiction. The medical and legal limitations of the accomodation criteria for the old and ageing are presented. Advantages and disadvantages of the medically-centered regulations of accomodation, diagnosis, therapy, temporary leave and discharge of patients are explained; foreign experience is taken into account.
Malinowski, Krzysztof Piotr; Kawalec, Paweł; Trąbka, Wojciech
The aim of this study was to assess the influence of different factors on the final reimbursement recommendations for drugs in Poland and to identify the correlation between these factors and the probability of a positive reimbursement recommendation for an applicant drug issued by the President of the Agency for Health Technology Assessment and Tariff System (AOTMiT). We analysed all recommendations for the period of 2012-2014 in Poland, three years following the launch of the new Reimbursement Act of Medicines, Foodstuffs Intended for Particular Nutritional Uses and Medical Devices. For each recommendation we collected data on efficacy, safety, cost of therapy, cost-effectiveness, quality of evidence, orphan drug status and others. Logistic regression was used to identify factors that increase the odds of a positive reimbursement recommendation. We analysed 221 recommendations for drugs, of which 78% were positive. We observed significant associations of all selected factors with positive recommendations. Proven efficacy and safety were associated with much greater odds for a positive reimbursement recommendation (123.5 and 42.6, respectively) than cost factors, which may suggest that patient outcome is much more important than the results of the cost-effectiveness analysis (odds ratio of 3.5) and the general cost of therapy (odds ratio of 3) in the analysed period. Copyright Â© 2016 Elsevier Ireland Ltd. All rights reserved.
Blein, G; Azorin, J M; Dufour, H; Tissot, R
Not being able to equilibrate affirmations and negations, the schizophrenic patient accedes only exceptionally to the majoring equilibrations of the second and third levels. In the logico-mathematic field, he does not approach the constructive synthetizing generalisations of reasoning. Lacking reflective abstraction, he cannot balance his logico-mathematic reasoning and differentiate what is structurally possible from what is materially possible, thus explaining his inaccessibility to perceive logic necessities, contrasting with the certainties of his delirium. In the logico-experimental domain, he reaches only rarely clause reasoning generalisation, and relapses regularly to the level of inappropriate generalisations of the extended inductive type. It is useless to try to find the "primum movens" of his difficulties, either in his imbalance assimilation/accommodation, or in his impossibility to see his contradictions, or even in his incapacity to equilibrate affirmations and negations. The majoring equilibrations, of which he is unable, are the functional expression of structures which do not follow the linear causality of Laplace's determinism but the circular causality characteristic of teleonomic processes. After a month of neuroleptic treatment, the decompensated schizophrenic's balance between assimilation and accommodation is partially restored.
Thurston, Maria Miller; Bourg, Catherine A; Phillips, Beth Bryles; Huston, Sally A
Medication adherence can be affected by many factors, including health literacy. The purpose of this study is to determine (1) if a relationship exists between health literacy and self-reported or objectively measured medication adherence and (2) which aspect or aspects of medication nonadherence are most associated with health literacy. This is a multicenter, cross-sectional survey study of adult patients with type 2 diabetes mellitus (T2DM), taking one or more antidiabetes medication for ≥6 months with a hemoglobin A1c (HbA1c) measure on record. Data collected included patient demographics (age, gender, race, language, highest level of education, injectable diabetes medication use, last HbA1c, and diabetes medication refill history) and two survey instruments (the Morisky eight-item Medication Adherence Scale [MMAS-8] and the short-form Test of Functional Health Literacy in Adults [s-TOFHLA]). Descriptive statistics and bivariate correlations were assessed, along with linear and logistic regression. One hundred ninety-two patients with an average HbA1c level of 8.1% were included. Of these subjects, 32.8% had limited health literacy as measured by the s-TOFHLA, 58.9% had low adherence as measured by MMAS-8, and 65.1% were nonadherent based on cumulative medication gap (CMG) analysis. Age was associated with s-TOFHLA (-0.411; P<0.01) and MMAS-8 (0.157; P<0.05) scores. HbA1c was associated with MMAS-8 (-0.209; P<0.01) and CMG (0.152; P<0.05) scores. There was no significant association between s-TOFHLA and MMAS-8 or CMG. However, s-TOFHLA was positively related to MMAS-8 question 8, assessing difficulty remembering to take medications (P=0.017). Health literacy level is not associated with self-reported or objectively measured medication adherence in underserved patients with T2DM. Lower health literacy scores are associated with a patient experiencing difficulty remembering to take medications.
Kang, Seungha; Denman, Stuart E; Morrison, Mark; Yu, Zhongtang; Dore, Joel; Leclerc, Marion; McSweeney, Chris S
A custom phylogenetic microarray composed of small subunit ribosomal RNA probes, representing ≈500 bacterial species from the human and animal gut, was developed and evaluated for analysis of gut microbial diversity using fecal samples from healthy subjects and Crohn's disease (CD) patients. Oligonucleotide probes (≈40 mer) used on the microarray were selected from published articles or designed with the "GoArray" microarray probe design program using selected bacterial 16S rRNA sequences. Fecal 16S rDNA from individual samples of six healthy subjects and six CD patients were used as template to generate fluorescently labeled cRNA that was hybridized to the microarray. Differences revealed by the microarray in relative abundance of microbial populations between healthy and diseased patients were verified using quantitative real-time polymerase chain reaction (PCR) with species-specific primer sets. The microarray analyses showed that Eubacterium rectale, Bacteroides fragilis group, B. vulgatus, Ruminococcus albus, R. callidus, R. bromii, and Faecalibacterium prausnitzii were 5-10-fold more abundant in the healthy subjects than in the CD patients, while Enterococcus sp., Clostridium difficile, Escherichia coli, Shigella flexneri, and Listeria sp. were more abundant in the CD group. The microarray detected differences in abundance of bacterial populations within the phylum Firmicutes that had been reported previously for the same samples based on phylogenetic analysis of metagenomic clone libraries. In addition, the microarray showed that Enterococcus sp. was in higher abundance in the CD patients. This microarray should be another useful tool to examine the diversity and abundance of human intestinal microbiota. Copyright © 2010 Crohn's & Colitis Foundation of America, Inc.
Faunce, T A; Drahos, P
Many recent international agreements sponsored by bodies such as the World Trade Organisation (WTO), aim to facilitate the global free flow of goods, services and capital, by opening markets under the threat of trade sanctions. Nation States signing such agreements, in particular the Trade Related Aspects of Intellectual Property Rights (TRIPS), agree to suffer a sovereignty deficit in order to enhance their trading prospects. In the resulting reorganization of trade, medicine may be marginalised as merely another industry that must open its regional doors in the interests of global corporate productivity. We make a plea for medical organizations to lobby in appropriate international forums to create "hard" norms that ensure such international trade agreements that adequately respect the demands of fundamental ethical principles of the doctor patient relationship, principles such as medical loyalty and beneficence.
Anderson, Bodil; Lygren, Hildegunn; Magnussen, Liv Heide; Eide, Geir Egil; Strand, Liv Inger
Physical tests and self-report measures are being used to measure physical functioning. The latter tends to be preferred in intervention studies. To examine whether the patients' global impression of change (PGIC) after rehabilitation was explained by change in pain, daily functioning, fear-avoidance of activities and various physical aspects, expecting contribution primarily by the self-reported measures. A test-retest design, within a prospective cohort study of patients with long-lasting low back pain. 96 patients were consecutively recruited from an outpatient spine clinic, assessed by three self-report questionnaires and seven physical tests at inclusion and after 3.5 weeks of multidisciplinary treatment. With PGIC as the dependent variable, linear regression analyses of all variables were performed. The study was approved by the Regional Committee for Medical Research Ethics and the National Data Inspectorate of Norway. In unadjusted analysis, change in pain, daily functioning and change in six physical tests contributed to the explained variance (R2: 6-24%). In the adjusted analysis, only pain and back endurance strength contributed (adjusted R2: 48%). In the final backward stepwise blockwise analyses, daily functioning and spinal mobility were also found to contribute to the explained variance (R2: 48%). The time span of 3.5 weeks of training is too short to give a lasting effect, but the contribution to explained variance of PGIC of self-report measures and physical tests were the focus of this study, not the effect of training. Most measures demonstrated change that was of significance to the patients after rehabilitation. Change in spinal mobility and back strength assessed by physical tests contributed to explain the patients' impression of change after controlling for change in pain and daily life functioning and may seem important to assess in addition to the self-report measures in intervention studies. Copyright © 2013 John Wiley & Sons, Ltd.
Peric, Barbara; Marinsek, Ziva Pohar; Skrbinc, Breda; Music, Maja; Zagar, Ivana; Hocevar, Marko
Carotid paragangliomas are usually slowly enlarging and painless lateral neck masses. These mostly benign lesions are recognized due to their typical location, vessel displacement and specific blood supply, features that are usually seen on different imaging modalities. Surgery for carotid paraganglioma can be associated with immediate cerebrovascular complications or delayed neurological impairment.We are reporting the case of a 36-year-old man who presented with a painless mass on the right side of his neck 11 months after being treated for testicular cancer. After a fine-needle aspiration biopsy, he was diagnosed with a testicular cancer lymph node metastasis. Neck US and fluorine [F-18]-fluorodeoxy-D-glucose (FDG) PET-CT showed no signs of hypervascularity or vessel displacement. The patient underwent a level II to V functional neck dissection. During the procedure, suspicion of a carotid paraganglioma was raised and the tumour was carefully dissected from the walls of the carotid arteries with minimal blood loss and no cranial nerve dysfunction.The histology report revealed carotid paraganglioma with no metastasis in the rest of the lymph nodes. The patient's history of testicular germ cell tumour led to a functional neck dissection during which a previously unrecognized carotid paraganglioma was removed.Surgery for carotid PG can be associated with complications that have major impact on quality of life. A thorough assessment of the patient and neck mass must therefore be performed preoperatively in order to perform the surgical procedure under optimal conditions.
Tähtinen, Olli I; Manninen, Hannu I; Vanninen, Ritva L; Seppänen, Janne; Niskakangas, Tero; Rinne, Jaakko; Keski-Nisula, Leo
The flow-diverting stent is a new option in endovascular therapy specifically designed for the endovascular reconstruction of a segmentally diseased artery. The safety of flow-diverting stents is still equivocal. To evaluate the technical aspects, thromboembolic events, adjunctive therapies, and midterm results in patients with complex intracranial aneurysms treated with a flow-diverting stent (Silk; Balt Extrusion, Montmorency, France). We retrospectively examined angiographic images and clinical reports of 24 consecutive patients (29 stents) treated (n = 23) or attempted to treat (n = 1) with a flow-diverting device in 2 Finnish centers between March 2009 and October 2010. The primary technical success rate was 67% (16/24). Adjunctive therapies were required in 6 (25%) patients, including 4 cases where intra-arterial abciximab was administered for the treatment of intraprocedural thromboembolic events. Technique-related complication rate and the 30-day mortality rate were each 4% (1/24). Follow-up imaging revealed 1 case of delayed in-stent thrombosis resulting in permanent disability of the patient, 1 asymptomatic occlusion, and 1 asymptomatic stenosis of the stented artery. Complete occlusion of the aneurysm with fully patent parent artery was observed in 16 of the 23 aneurysms (70%) where follow-up images were available. Many previously untreatable cerebral aneurysms may be successfully treated with the Silk flow-diverting stent, but the associated risk of thromboembolic events is justifiable only if conventional endovascular or surgical treatment options are not applicable. Perioperative thromboembolic events should be prepared for and treated without unnecessary delays because they frequently respond to adjunctive medical therapy.
Zhao, Min; Zhu, Runan; Qian, Yuan; Deng, Jie; Wang, Fang; Sun, Yu; Dong, Huijin; Liu, Liying; Jia, Liping; Zhao, Linqing
Human bocavirus (HBoV) genotypes 1-4 have been detected worldwide in respiratory samples and stool samples, and are increasingly associated with respiratory and intestinal infections of previously unknown etiology in young children. Several studies revealed evidence of extensive recombination among HBoV genotypes at the NP1 and VP1 gene boundary region. This study explored the prevalence of HBoV genotypes in pediatric patients in Beijing, and studied their phylogeny. A total of 4941 respiratory specimens and 1121 fecal specimens were collected from pediatric patients with respiratory infections from January 2006 to December 2013, or with acute diarrhea from October 2010 to December 2012. Conventional PCR was used to detect HBoV1-4 within these samples. Gene fragments at the NP1 and VP1 gene boundary were amplified from HBoV-positive specimens, sequenced, and their phylogenetic inferences constructed using MEGA 6.0 software. Recombination events were identified with SimPlot software. Human bocavirus 1, 2, and 3 were detected in 9 (0.80%), 15 (1.33%), and 1 (0.08%) of 1121 stool samples, respectively. However, only HBoV1 (82, 1.65%) was detected in respiratory specimens. Phylogenetic analysis of gene fragments at the HBoV NP1 and VP1 gene boundary indicated that HBoV1 sequences obtained from fecal or respiratory specimens across 8years were highly conserved (99-100%), while 15 HBoV2 sequences collected across 2years in Beijing were more diverse with up to 4.40% variation. Of the 15 HBoV2 sequences, 14 clustered into a new lineage divergent from other HBoV2 sequences in GenBank. Five HBoV2 genomic sequences were analyzed for recombination, revealing intra-genotype recombination between HBoV2A and HBoV2B. More HBoV1 were detected in children with respiratory tract diseases, and HBoV2 in patients with acute diarrhea. Phylogenetic analysis revealed a new cluster of HBoV2 was prevalent in China, which may be the result of intra-genotype recombination between HBoV2A and
Elsyad, Moustafa Abdou
This study aimed to evaluate patient satisfaction and prosthetic aspects during a 5-year prospective clinical study of mini dental implants (MDIs) retaining mandibular overdentures. This observational prospective clinical study was conducted on a group of completely edentulous patients (n = 28) with retention problems of conventional mandibular dentures. All patients received new maxillary and mandibular conventional dentures. A total of 112 MDIs (four per patient) were inserted using the flapless surgical approach and immediately loaded by the new mandibular dentures (overdentures). Patients indicated satisfaction with their prosthesis using a questionnaire and a visual analogue scale (VAS). Patient satisfaction and prosthetic complications were recorded 6 months (T6 m ), 1 (T1), 3 (T3), and 5 (T5) years after overdenture insertion. The patient satisfaction with eating (hard/soft) food (P < 0.001), talking (P < 0.001), appearance (P = 0.001), comfort (P < 0.001), healing process (P = 0.013), socialization (P < 0.001), stability/retention of mandibular dentures (P = 0.001), ease of oral hygiene (P = 0.008), and ease of handling the dentures (P < 0.001) increased significantly with time. After 5 years, the most common complication was wear/damage of O/rings (n = 235), O/ring replacement (n = 125), maxillary denture relining times (n = 13), worn teeth (n = 10), overdentures relines (n = 10), detachment of the metal housings (n = 9), and fracture of mandibular overdentures (n = 8). Mucositis, soreness, and decubitis ulcer under overdenture occurred most often at T6 m and decreased significantly with time (P = 0.002, 0.005, and 0.024, respectively). Within the limitations of this clinical study, patient satisfaction with mini-implant retained mandibular overdentures increased significantly with time. However, this treatment required a considerable amount of prosthetic maintenance and repair after 5 years of service. © 2015 John
Gillies, Christopher; Sampson, Matthew G.; Kher, Vijay; Sethi, Sidharth K.; Otto, Edgar A.
Objective Hypophosphatemic rickets (HR) is a heterogeneous genetic phosphate wasting disorder. The disease is most commonly caused by mutations in the PHEX gene located on the X-chromosome or by mutations in CLCN5, DMP1, ENPP1, FGF23, and SLC34A3. The aims of this study were to perform molecular diagnostics for four patients with HR of Indian origin (two independent families) and to describe their clinical features. Methods We performed whole exome sequencing (WES) for the affected mother of two boys who also displayed the typical features of HR, including bone malformations and phosphate wasting. B-lymphoblast cell lines were established by EBV transformation and subsequent RT-PCR to investigate an uncommon splice site variant found by WES. An in silico analysis was done to obtain accurate nucleotide frequency occurrences of consensus splice positions other than the canonical sites of all human exons. Additionally, we applied direct Sanger sequencing for all exons and exon/intron boundaries of the PHEX gene for an affected girl from an independent second Indian family. Results WES revealed a novel PHEX splice acceptor mutation in intron 9 (c.1080-3C>A) in a family with 3 affected individuals with HR. The effect on splicing of this mutation was further investigated by RT-PCR using RNA obtained from a patient’s EBV-transformed lymphoblast cell line. RT-PCR revealed an aberrant splice transcript skipping exons 10-14 which was not observed in control samples, confirming the diagnosis of X-linked dominant hypophosphatemia (XLH). The in silico analysis of all human splice sites adjacent to all 327,293 exons across 81,814 transcripts among 20,345 human genes revealed that cytosine is, with 64.3%, the most frequent nucleobase at the minus 3 splice acceptor position, followed by thymidine with 28.7%, adenine with 6.3%, and guanine with 0.8%. We generated frequency tables and pictograms for the extended donor and acceptor splice consensus regions by analyzing all human
Cruz, Giovanna Karinny Pereira; Azevedo, Isabelle Campos de; Carvalho, Diana Paula de Souza Rego Pinto; Vitor, Allyne Fortes; Santos, Viviane Euzébia Pereira; Ferreira, Marcos Antonio
clinically characterizing cornea transplant patients and their distribution according to indicated and post-operative conditions of cornea transplantation, as well as estimating the average waiting time. a cross-sectional, descriptive and analytical study performed for all cornea transplants performed at a reference service (n=258). Data were analyzed using Statistical Package for the Social Sciences, version 20.0. the main indicator for cornea transplant was keratoconus. The mean waiting time for the transplant was approximately 5 months and 3 weeks for elective transplants and 9 days for urgent cases. An association between the type of corneal disorder with gender, age, previous surgery, eye classification, glaucoma and anterior graft failure were found. keratoconus was the main indicator for cornea transplant. Factors such as age, previous corneal graft failure (retransplantation), glaucoma, cases of surgeries prior to cornea transplant (especially cataract surgery) may be related to the onset corneal endothelium disorders. caracterizar clínicamente los pacientes trasplantados y su distribución, con descripción de las condiciones indicadoras y posoperatorias de los trasplantes de córneas, así como estimar el tiempo promedio en la fila de espera. estudio epidemiológico, transversal, descriptivo y analítico, realizado con todos los trasplantes de córnea realizados en un servicio de referencia (n=258). Los datos fueron analizados con el software Statistical Package for the Social Sciences, versión 20.0. la principal condición indicadora para el trasplante de córnea fue el queratocono. El tiempo promedio en fila de espera para realización del trasplante fue de aproximadamente 5 meses y tres semanas, para trasplantes electivos y de 9 días para los casos de urgencia. Existió asociación entre el tipo de disturbio de la córnea con: sexo, intervalo etario, cirugía previa, clasificación del ojo, glaucoma y rechazo del injerto anterior. el queratocono fue
ZHAO, YUE; FENG, YUE; ZHANG, YUN-MEI; DING, XIAO-XUE; SONG, YU-ZHU; ZHANG, A-MEI; LIU, LI; ZHANG, HONG; DING, JIA-HUAN; XIA, XUE-SHAN
Dilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure, and it is characterized by genetic and clinical heterogeneity, even for some patients with a very poor clinical prognosis; in the majority of cases, DCM necessitates a heart transplant. Genetic mutations have long been considered to be associated with this disease. At present, mutations in over 50 genes related to DCM have been documented. This study was carried out to elucidate the characteristics of gene mutations in patients with DCM. The candidate genes that may cause DCM include MYBPC3, MYH6, MYH7, LMNA, TNNT2, TNNI3, MYPN, MYL3, TPM1, SCN5A, DES, ACTC1 and RBM20. Using next-generation sequencing (NGS) and subsequent mutation confirmation with traditional capillary Sanger sequencing analysis, possible causative non-synonymous mutations were identified in ~57% (12/21) of patients with DCM. As a result, 7 novel mutations (MYPN, p.E630K; TNNT2, p.G180A; MYH6, p.R1047C; TNNC1, p.D3V; DES, p.R386H; MYBPC3, p.C1124F; and MYL3, p.D126G), 3 variants of uncertain significance (RBM20, p.R1182H; MYH6, p.T1253M; and VCL, p.M209L), and 2 known mutations (MYH7, p.A26V and MYBPC3, p.R160W) were revealed to be associated with DCM. The mutations were most frequently found in the sarcomere (MYH6, MYBPC3, MYH7, TNNC1, TNNT2 and MYL3) and cytoskeletal (MYPN, DES and VCL) genes. As genetic testing is a useful tool in the clinical management of disease, testing for pathogenic mutations is beneficial to the treatment of patients with DCM and may assist in predicting disease risk for their family members before the onset of symptoms. PMID:26458567
Seol, Hyang Sook; Choi, Yeon Sook; Kim, Eunji; Lee, Eun Ji; Rhee, Je-Keun; Singh, Shree Ram; Jun, Eun Sung; Han, Buhm; Hong, Seung Mo; Kim, Song Cheol; Chang, Suhwan
Pancreatic ductal adenocarcinoma (PDAC) is the most challenging type of cancer to treat, with a 5-year survival rate of <10%. Furthermore, because of the large portion of the inoperable cases, it is difficult to obtain specimens to study the biology of the tumors. Therefore, a patient-derived xenograft (PDX) model is an attractive option for preserving and expanding these tumors for translational research. Here we report the generation and characterization of 20 PDX models of PDAC. The success rate of the initial graft was 74% and most tumors were re-transplantable. Histological analysis of the PDXs and primary tumors revealed a conserved expression pattern of p53 and SMAD4; an exome single nucleotide polymorphism (SNP) array and Comprehensive Cancer Panel showed that PDXs retained over 94% of cancer-associated variants. In addition, Polyphen2 and the Sorting Intolerant from Tolerant (SIFT) prediction identified 623 variants among the functional SNPs, highlighting the heterologous nature of pancreatic PDXs; an analysis of 409 tumor suppressor genes and oncogenes in Comprehensive Cancer Panel revealed heterologous cancer gene mutation profiles for each PDX-primary tumor pair. Altogether, we expect these PDX models are a promising platform for screening novel therapeutic agents and diagnostic markers for the detection and eradication of PDAC. PMID:27613834
Peters, Joanna; Cresswell, Fiona; Amor, Lauren; Cole, Kevin; Dean, Gillian; Didelot, Xavier; De Silva, Dilrini; Eyre, David W; Paul, John
Prevention and control of gonorrhoea depends on understanding the nature of sexual networks and risk factors for infection. We aimed to use high-resolution typing (whole genome sequencing (WGS)) of Neisseria gonorrhoeae isolates plus patient questionnaire data to gain insights into transmission patterns in a high prevalence setting. During a 9-month period (July 2014-March 2015), patients diagnosed with gonorrhoea attending sexual health service in Brighton, UK, were invited to provide anonymised detailed information by questionnaire about risk factors for infection. Questionnaire data plus WGS data from cultured isolates were analysed to yield information about sexual networks and risk factors for infection. 104/149 individuals who consented to participate in the study were culture positive. 97/104 (93%) were male. 80 self-reported to be men who have sex with men (MSM). 35/104 (34%) of patients were HIV positive. 51/104 (49%) individuals reported using geosocial networking applications to facilitate contact. Sex under the influence of drugs was reported by 16/34 (46%) of HIV-positive MSM, 17/41 (41%) of HIV-negative MSM and 5/15 (31%) of heterosexuals. WGS data were available for 100 isolates from 83 patients. 55 isolates (66%) belonged to genetically related subtypes involving one or more patients, who could be plausibly linked through recent direct or indirect transmission. Four transmission clusters containing 3-12 individuals were composed of MSM of mixed HIV serostatus. We show that data obtained from WGS of N. gonorrhoeae and enhanced epidemiological data obtained from patient questionnaires are mutually supportive and reveal insights into sexual networks. Our findings suggest that serosorting may have declined as a practice and indicate the importance of designing public health interventions that target infection risks associated with recreational drug use and contact made using geosocial networking applications. © Article author(s) (or their employer
The human body strives at maintaining homeostasis within fairly tight regulated mechanisms that control vital regulators such as core body temperature, mechanisms of metabolism and endocrine function. While a wide range of medical conditions can influence thermoregulation the most common source of temperature loss in trauma patients includes: exposure (environmental, as well as cavitary), the administration of i.v. fluids, and anaesthesia/loss of shivering mechanisms, and blood loss per se. Loss of temperature can be classified either according to the aetiology (i.e. accidental/spontaneous versus trauma/haemorrhage-induced temperature loss), or according to an unintended, accidental induction in contrast to a medically intended therapeutic hypothermia. Hypothermia occurs infrequently (prevalence<10% of all injured), but more often (30-50%) in the severely injured. Hypothermia usually come together with and may aggravate acidosis and coagulopathy (the "lethal triad of trauma"), which again may be associated with a high mortality. However, recent studies disagree in the independent predictive role of hypothermia and mortality. Prevention of hypothermia is imperative through all phases of trauma care and must be an interest among all team members. Hypothermia in the trauma setting has attracted focus in the past from a pathophysiological, preventive and prognostic perspective; yet recent focus has shifted towards the potential for using hypothermia for pre-emptive and cellular protective purposes. This paper gives a brief update on some of the clinically relevant aspects of hypothermia in the injured patient.
Zida, A; Sawadogo, P M; Diallo, I; Tapsoba, H; Bazie, Z; Drabo, Y J; Guiguemde, T R
Our study aimed to analyze the epidemiological aspects of cutaneous mycosis in people living with human immunodeficiency virus (PLHIV). This is a descriptive study of 382 patients living with HIV. Following an investigation into the risk factors, mycological samples have been performed. Each sample underwent direct examination and cultivation for the identification of fungal species. The Blastese test is used for the identification of Candida albicans. One hundred and six (106) of the 382 people living with human immunodeficiency virus undergo a mycological collection of which 76 gave a positive result. The overall prevalence of cutaneous mycosis was 19.9 %. It was significantly higher in women and in patients who had a CD4 count ≤500/mm3. C. albicans and Trichophyton rubrum were the most isolated species with 22.4 and 19.8 % of all fungal species isolated, respectively. Cutaneous mycoses are common among people living with human immunodeficiency virus and whose CD4 count ≤ 500/mm(3). Copyright © 2016. Published by Elsevier Masson SAS.
Merlin, Jessica S.; Walcott, Melonie; Ritchie, Christine; Herbey, Ivan; Kertesz, Stefan G.; Chamot, Eric; Saag, Michael; Turan, Janet M.
Objective Chronic pain is common in HIV-infected individuals. Understanding HIV-infected patients’ chronic pain experience not just from a biological, but also from a psychological perspective, is a critical first step toward improving care for this population. Our objective was to explore HIV-infected patients’ perspectives on psychological aspects of chronic pain using in-depth qualitative interviews. Methods Investigators engaged in an iterative process of independent and group coding until theme saturation was reached. Results Of the 25 patients with chronic pain interviewed, 20 were male, 15 were younger than age 50, and 15 were African-American. Key themes that emerged included the close relationship between mood and pain; mood and pain in the context of living with HIV; use of alcohol/drugs to self-medicate for pain; and the challenge of receiving prescription pain medications while dealing with substance use disorders. Conclusions The results suggest that psychological approaches to chronic pain treatment may be well received by HIV-infected patients. PMID:25365306
Ryo, A; Kondoh, N; Wakatsuki, T; Hada, A; Yamamoto, N; Yamamoto, M
A number of strategies have been devised by which differentially expressed genes in different cell types or tissues can be identified. We here report an efficient method to analyze the qualitative and quantitative aspects of transcripts and to construct an extensive gene expression profile in any kind of cell or tissue of interest. This method enables us to analyze the composition of mRNA species, reflecting gene activities, by measuring the frequency of appearance of concatamerized 17mer cDNA mini-fragments, which are proportional to the abundance of mRNA. As compared with a related method previously described by others, we can analyze approximately 3-4 bp longer cDNA fragments derived from amounts of total RNA as small as 1 microg. Using this technique we examined 10 100 cDNA mini-fragments from HeLa cells and constructed a gene expression profile consisting of 3665 genes. This method should thus provide an overall indication of gene activities and a rational means for monitoring gene fluctuation in different cells or tissues at different stages of development, in normal and disease states. PMID:9592141
Sharma, Neelam; Purkayastha, Abhishek
Objective: The aim of this study was to assess the impact of radiotherapy (RT) on psychological, financial, and sexual aspects in postmastectomy carcinoma breast patients affecting their quality of life (QOL) before, during, and after RT with a strong emphasis on their management and rehabilitation aspects. Methods: A cross-sectional study carried out in a specialized institution, comprising sixty women. Two standardized questionnaires European Organization for Research and Treatment of Cancer (EORTC) 30-item Quality of Life Questionnaire and Quality of Life Questionnaire breast cancer-23 (QLQ-BR23) for health-related quality, translated and validated for the Hindi language were used. The scores’ manual of the EORTC was used to calculate the domain scores of the questionnaires. Results: According to the first questionnaire, the emotional function was most affected even at onset of RT treatment and it was worst at the completion of RT treatment with a mean score of 63.75. The global QOL score was also worst at the end of radiation treatment with a mean score of 32.36, while the score 3 months after completion of treatment was 68.16. The symptoms with the highest scores were insomnia with a worst scoring at completion of treatment (29.99), fatigue (26.57), and pain (23.05). According to the QLQ-BR23, the mean score for side effects such as sexual functioning was minimum 0.55 at the completion of RT, which improved to 11.66 on the first follow-up after 3 months. Mean future perspective score which was 57.22 before the start of RT which was reduced to 50.55 at completion, which means that many women experience side effects of RT and impaired sexual satisfaction. Conclusions: Women with breast cancer showed changes in the following domains: financial, emotional, sexual satisfaction, and future prospects. The most frequently mentioned symptoms were fatigue, insomnia, and pain. PMID:28217733
Rani, Asha; Ranjan, Ravi; McGee, Halvor S; Andropolis, Kalista E; Panchal, Dipti V; Hajjiri, Zahraa; Brennan, Daniel C; Finn, Patricia W; Perkins, David L
Recent studies have established that a complex community of microbes colonize the human urinary tract; however, their role in kidney transplant patients treated with prophylactic antibiotics remains poorly investigated. Our aim was to investigate the urinary microbiome of kidney transplant recipients. Urine samples from 21 patients after kidney transplantation and 8 healthy controls were collected. All patients received prophylactic treatment with the antibiotic combination trimethoprim-sulfamethoxazole. Metagenomic DNA was isolated from urine samples, sequenced using shotgun sequencing approach on Illumina HiSeq 2000 platform, and analyzed for microbial taxonomic and functional annotations. Our results demonstrate that the urine microbiome of kidney transplants was markedly different at all taxonomic levels from phyla to species, had decreased microbial diversity, and increased abundance of potentially pathogenic species compared with healthy controls. Specifically, at the phylum level, we detected a significant decrease in Actinobacteria and increase in Firmicutes due to increases in Enterococcus faecalis. In addition, there was an increase in the Proteobacteria due to increases in Escherichia coli. Analysis of predicted functions of the urinary metagenome revealed increased abundance of enzymes in the folate pathway including dihydrofolate synthase that are not inhibited by trimethoprim-sulfamethoxazole, but can augment folate metabolism. This report characterizes the urinary microbiome of kidney transplants using shotgun metagenomics approach. Our results indicate that the urinary microbiota may be modified in the context of prophylactic antibiotics, indicating that a therapeutic intervention may shift the urinary microbiota to select bacterial species with increased resistance to antibiotics. The evaluation and development of optimal prophylactic regimens that do not promote antibiotic resistance is an important future goal.
Kim, Min-Sik; Zhong, Yi; Yachida, Shinichi; Rajeshkumar, N V; Abel, Melissa L; Marimuthu, Arivusudar; Mudgal, Keshav; Hruban, Ralph H; Poling, Justin S; Tyner, Jeffrey W; Maitra, Anirban; Iacobuzio-Donahue, Christine A; Pandey, Akhilesh
Many patients with pancreatic cancer have metastases to distant organs at the time of initial presentation. Recent studies examining the evolution of pancreatic cancer at the genetic level have shown that clonal complexity of metastatic pancreatic cancer is already initiated within primary tumors, and organ-specific metastases are derived from different subclones. However, we do not yet understand to what extent the evolution of pancreatic cancer contributes to proteomic and signaling alterations. We hypothesized that genetic heterogeneity of metastatic pancreatic cancer results in heterogeneity at the proteome level. To address this, we employed a model system in which cells isolated from three sites of metastasis (liver, lung, and peritoneum) from a single patient were compared. We used a SILAC-based accurate quantitative proteomic strategy combined with high-resolution mass spectrometry to analyze the total proteome and tyrosine phosphoproteome of each of the distal metastases. Our data revealed distinct patterns of both overall proteome expression and tyrosine kinase activities across the three different metastatic lesions. This heterogeneity was significant because it led to differential sensitivity of the neoplastic cells to small molecule inhibitors targeting various kinases and other pathways. For example, R428, a tyrosine kinase inhibitor that targets Axl receptor tyrosine kinase, was able to inhibit cells derived from lung and liver metastases much more effectively than cells from the peritoneal metastasis. Finally, we confirmed that administration of R428 in mice bearing xenografts of cells derived from the three different metastatic sites significantly diminished tumors formed from liver- and lung-metastasis-derived cell lines as compared with tumors derived from the peritoneal metastasis cell line. Overall, our data provide proof-of-principle support that personalized therapy of multiple organ metastases in a single patient should involve the
Koh, Seung Yon; Kim, Min Seung; Lee, Sun Min; Hong, Ji Man; Yoon, Jung Han
Restless legs syndrome (RLS) is a common sleep disorder in which patients feel unpleasant leg sensations and the urge to move their legs during rest, particularly at night. Leg movement improves these symptoms. Although several studies have demonstrated an association between cardiovascular disease and RLS, the mechanisms underlying this relationship remain unclear. Recent studies have shown changes in the peripheral microvasculature, including altered blood flow and capillary tortuosity, and peripheral hypoxia. Vascular endothelial dysfunction can be assessed noninvasively with ultrasound measurements of brachial artery flow-mediated dilatation (FMD). Therefore, this study investigated FMD in RLS patients to determine the involvement of microvascular alterations in this disorder. The study enrolled 25 drug-naïve RLS patients and 25 sex- and age-matched controls and compared the FMD values of the two groups. RLS was diagnosed according to the criteria of the International Restless Legs Syndrome Study Group. FMD was significantly lower in the RLS patients (6.6 ± 1.2%) compared to the controls (8.4 ± 1.8%; p<0.05) and the RLS patients showed a weak, negative correlation between RLS severity and FMD (r=-0.419, p=0.04). Multivariate linear regression analysis revealed that RLS (B=-1.87, 95% confidence interval [CI] -2.72 to -1.02; p<0.001) and age (B=-0.06; 95% CI -0.12 to -0.02; p<0.001) were significantly and inversely correlated with FMD. This study demonstrated that RLS patients have poorer vascular endothelial function than normal healthy subjects and provides further evidence supporting the involvement of peripheral systems in the generation of RLS. Copyright © 2015 Elsevier B.V. All rights reserved.
Molitor, Alexandra; Zajic, Doreen; Voll, Lars M; Pons-K Hnemann, Jorn; Samans, Birgit; Kogel, Karl-Heinz; Waller, Frank
Colonization of barley roots with the basidiomycete fungus Piriformospora indica (Sebacinales) induces systemic resistance against the biotrophic leaf pathogen Blumeria graminis f. sp. hordei (B. graminis). To identify genes involved in this mycorrhiza-induced systemic resistance, we compared the leaf transcriptome of P. indica-colonized and noncolonized barley plants 12, 24, and 96 h after challenge with a virulent race of B. graminis. The leaf pathogen induced specific gene sets (e.g., LRR receptor kinases and WRKY transcription factors) at 12 h postinoculation (hpi) (prepenetration phase) and vesicle-localized gene products 24 hpi (haustorium establishment). Metabolic analysis revealed a progressing shift of steady state contents of the intermediates glucose-1-phosphate, uridinediphosphate-glucose, and phosphoenolpyruvate 24 and 96 hpi, indicating that B. graminis shifts central carbohydrate metabolism in favor of sucrose biosynthesis. Both B. graminis and P. indica increased glutamine and alanine contents, whereas substrates for starch and nitrogen assimilation (adenosinediphosphate- glucose and oxoglutarate) decreased. In plants that were more B. graminis resistant due to P. indica root colonization, 22 transcripts, including those of pathogenesis-related genes and genes encoding heat-shock proteins, were differentially expressed ?twofold in leaves after B. graminis inoculation compared with non-mycorrhized plants. Detailed expression analysis revealed a faster induction after B. graminis inoculation between 8 and 16 hpi, suggesting that priming of these genes is an important mechanism of P. indica-induced systemic disease resistance.
Liu, Jun; McConnell, Kristopher; Dixon, Michael; Calvi, Brian R.
Epigenetic regulation exerts a major influence on origins of DNA replication during development. The mechanisms for this regulation, however, are poorly defined. We showed previously that acetylation of nucleosomes regulates the origins that mediate developmental gene amplification during Drosophila oogenesis. Here we show that developmental activation of these origins is associated with acetylation of multiple histone lysines. Although these modifications are not unique to origin loci, we find that the level of acetylation is higher at the active origins and quantitatively correlated with the number of times these origins initiate replication. All of these acetylation marks were developmentally dynamic, rapidly increasing with origin activation and rapidly declining when the origins shut off and neighboring promoters turn on. Fine-scale analysis of the origins revealed that both hyperacetylation of nucleosomes and binding of the origin recognition complex (ORC) occur in a broad domain and that acetylation is highest on nucleosomes adjacent to one side of the major site of replication initiation. It was surprising to find that acetylation of some lysines depends on binding of ORC to the origin, suggesting that multiple histone acetyltransferases may be recruited during origin licensing. Our results reveal new insights into the origin epigenetic landscape and lead us to propose a chromatin switch model to explain the coordination of origin and promoter activity during development. PMID:22049023
Sun, Chung-Huan J; Connelly, Kerrin; Nogueira, Raul G; Glenn, Brenda A; Zimmermann, Susan; Anda, Kim; Camp, Deborah; Gaunt, Susan; Pallard, Herma; Eckenroth, Michele; Frankel, Michael R; Belagaje, Samir R; Anderson, Aaron M; Nahab, Fadi; Yepes, Manuel; Gupta, Rishi
Pretreatment Alberta Stroke Program Early CT Scores (ASPECTS) is associated with clinical outcomes. The rate of decline between subsequent images, however, may be more predictive of outcomes as it integrates time and physiology. A cohort of patients transferred from six primary stroke centers and treated with intra-arterial therapy (IAT) was retrospectively studied. Absolute ASPECTS decay was defined as ((ASPECTS First CT-ASPECTS Second CT)/hours elapsed between images). A logistic regression model was performed to determine if the rate of ASPECTS decay predicted good outcomes at 90 days (modified Rankin Scale score of 0-2). 106 patients with a mean age of 66±14 years and a median National Institutes of Health Stroke Scale score of 19 (IQR 15-23) were analyzed. Median time between initial CT at the outside hospital to repeat CT at our facility was 2.7 h (IQR 2.0-3.6). Patients with good outcomes had lower rates of absolute ASPECTS decay compared with those who did not (0.14±0.23 score/h vs 0.49±0.39 score/h; p<0.001). In multivariable modeling, the absolute rate of ASPECTS decay (OR 0.043; 95% CI 0.004 to 0.471; p=0.01) was a stronger predictor of good patient outcome than static pretreatment ASPECTS obtained before IAT (OR 0.64; 95% CI 0.38 to 1.04; p=0.075). In practical terms, every 1 unit increase in ASPECTS decline per hour correlates with a 23-fold lower probability of a good outcome. Patients with faster rates of ASPECTS decay during inter-facility transfers are associated with worse clinical outcomes. This value may reflect the rate of physiological infarct expansion and thus serve as a tool in patient selection for IAT. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
Danjoux, Nathalie; Hawryluck, Laura; Lawless, Bernard
On January 31, 2007, Ontario's Critical Care Strategy hosted a workshop for healthcare providers examining cultural and religious perspectives on patient care in the intensive care unit (ICU). The workshop provided an opportunity for the Ministry of Health and Long-Term Care (MOHLTC) to engage service providers and discuss important issues regarding cultural and religious perspectives affecting critical care service delivery in Ontario. While a favourable response to the workshop was anticipated, the truly remarkable degree to which the more than 200 front-line healthcare providers, policy developers, religious and cultural leaders, researchers and academics who were in attendance embraced the need for this type of dialogue to take place suggests that discussion around this and other "difficult" issues related to care in a critical care setting is long overdue. Without exception, the depth of interest in being able to provide patient-centred care in its most holistic sense--that is, respecting all aspects of the patients' needs, including cultural and religious--is a top-of-mind issue for many people involved in the healthcare system, whether at the bedside or the planning table. This article provides an overview of that workshop, the reaction to it, and within that context, examines the need for a broad-based, non-judgmental and respectful approach to designing care delivery in the ICU. The article also addresses these complex and challenging issues while recognizing the constant financial and human resource constraints and the growing demand for care that is exerting tremendous pressure on Ontario's limited critical care resources. Finally, the article also explores the healthcare system's readiness and appetite for an informed, intelligent and respectful debate on the many issues that, while often difficult to address, are at the heart of ensuring excellence in critical care delivery.
Bozorgi, Vida; Talebitaher, Mahshid; Shalbaf, Neda; Radmanesh, Nima; Nasri, Fatemeh; Ansari-Ramandi, Mohammad Mostafa
Introduction No comprehensive reports have been published on epidemiological status of Rhinocerebral zygomycosis infections and its outcome in our population, Hence, the current study came to address epidemiological characteristics as well as clinical outcome of patients with Rhinocerebral zygomycosis infection referred to a referral hospital in Iran. Methods This retrospective study was performed at the Rasoul-e-Akram hospital, an 800-bed tertiary care teaching hospital in Tehran, Iran. The pathology recorded charts were reviewed to identify all cases of Rhinocerebral zygomycosis from patients admitted between April 2007 and March 2014. A diagnosis of Rhinocerebral zygomycosis was based on histopathological assessments. Results Sixty four patients with Rhinocerebral zygomycosis were assessed. The mean age of the patients was 46.07 ± 22.59 years and 51.6% were female. Among those, 67.2% were diabetic, 26.6% were hypertensive and 29.7% had history of cancer. Different sinuses were infected in 73.4% of the patients. Out of all the patients 26.6% underwent surgical procedures and 17.2% were controlled medically. Extensive debridement was carried out in 40.6%. Neutropenia (<1500 cell/ µl) was revealed in 12.5%. In-hospital mortality rate was 35.9% and prolonged hospital stay (> 14 days) was found in 60.9%. According to the Multivariable logistic regression analysis, the main predictors of in-hospital mortality included female gender, advanced age, the presence of sinus infection, and neutropenia, while higher dosages of amphotericin administered had a protective role in preventing early mortality. In a similar Multivariate model, history of cancer could predict prolonged hospital stay, whereas using higher dose of amphotericin could lead to shortening length of hospital stay. Conclusion There is no difference in demographic characteristics between our patients with Rhinocerebral zygomycosis and other nations. The presence of diabetes mellitus is closely associated
Ainalidou, Aggeliki; Tanou, Georgia; Belghazi, Maya; Samiotaki, Martina; Diamantidis, Grigorios; Molassiotis, Athanassios; Karamanoli, Katerina
Fruit development and ripening depends on highly coordinated phyto-hormonal activities. Although the role of synthetic cytokinin N-(2-chloro-4-pyridyl)-N'-phenylurea (CPPU) in promoting fruit growth has been established, knowledge regarding the underlying mechanism is still lacking. Here, we characterize the effect of CPPU application 20d after full bloom at pre- and post-harvest biology of kiwifruit (Actinidia deliciosa [A. Chev.] C.F. Liang et A.R. Ferguson var. deliciosa cv. 'Hayward'). Data revealed that CPPU stimulates kiwifruit growth through the enlargement of small cells. During fruit development, the abundance of 16 proteins that are mainly related to defence was increased by CPPU while CPPU altered the expression of 19 polar metabolites in outer pericarp. Sugar homeostasis, cell wall modifications, TCA cycle and myo-inositol pathway were mostly affected by CPPU in kiwifruit during development. Upon postharvest ripening at 20°C following 2months of cold storage (0°C), CPPU suppressed ethylene production and retained central placenta softening, indicating that CPPU induced tissue-dependent disturbances in climacteric ripening. Nineteen central placenta proteins and up to 15 metabolites of outer pericarp and central placenta tissues were affected by CPPU in ripened kiwifruits. These observations amplified our understanding in the regulation of fruit development and ripening by exogenously supplied cytokinins. This study demonstrates that CPPU application, apart from fruit development, influenced also the kiwifruit climacteric ripening behaviour. An insight on the action of CPPU during kiwifruit development is provided, showing that it is partially based on a general stimulation of TCA cycle and myo-inositol pathway along with alternation in sugar and cell wall metabolism. Data also revealed that CPPU regulates ethylene biosynthesis and influences central placenta softening, indicating that this tissue may play a prominent role in kiwifruit ripening. Also
Webster, Margaret A; Gilmartin, Philip M
Heterostyly in Primula is characterized by the development of long-styled pin and short-styled thrum flowers, with anthers midway down the corolla tube in pin flowers, and at its mouth in thrum flowers. Other differences include pollen size and stigmatic papillae length. Several linked genes at the S locus control these differences. In this study we have analyzed pin and thrum flowers through the temporal development of heteromorphy.These studies indicate that the S locus linked genes that orchestrate heteromorphic flower development act in coordination, but with different temporal and spatial dynamics. Style length is differentiated by longer style cells in pin than thrum. However, our studies on cell shape and size within the corolla tube show that a different mechanism mediates the dissimilar elevation of anthers between pin and thrum types. These studies have also revealed that upper corolla tube cells in thrum flowers are wider than those in pin flowers. This results in a larger corolla tube mouth in thrum flowers and represents a new and previously undocumented heteromorphic variation between pin and thrum flowers.
Phylogenetic analyses of the subgenus Mollienesia (Poecilia, Poeciliidae, Teleostei) reveal taxonomic inconsistencies, cryptic biodiversity, and spatio-temporal aspects of diversification in Middle America.
Palacios, Maura; Voelker, Gary; Arias Rodriguez, Lenin; Mateos, Mariana; Tobler, Michael
The subgenus Mollienesia is a diverse group of freshwater fishes, including species that have served as important models across multiple biological disciplines. Nonetheless, the taxonomic history of this group has been conflictive and convoluted, in part because the evolutionary relationships have not been rigorously resolved. We conducted a comprehensive molecular phylogenetic analysis of the subgenus Mollienesia to identify taxonomic discrepancies and potentially identify undescribed species, estimate ancestral areas of origin and estimate dates of divergence, as well as explore biogeographical patterns. Our findings confirm the presence of three main clades composed of the P. latipinna, P. sphenops, and P. mexicana species complexes. Unlike previously hypothesized morphology-based analyses, species found on the Caribbean Islands are not part of Mollienesia, but are more closely related to species of the subgenus Limia. Our study also revealed several taxonomic inconsistencies and distinct lineages in the P. mexicana species complex that may represent undescribed species. The diversity in the subgenus Mollienesia is a result of dynamic geologic activity leading to vicariant events, dispersal across geologic blocks, and ecological speciation. Copyright © 2016 Elsevier Inc. All rights reserved.
Tavakol, Mohamad; Naserirad, Mohsen
There is a good literature confirming the effects of social capital on different health domains. The increase in different types of cancer has caused scientists to encounter a number of issues regarding the reasons of affliction by this disease. The aim of this empirical research was to study the causal aspects of social capital of Iranian patients with cancer. The study was a causal-comparative study conducted in the spring and summer of 2010 in Tehran. The sample consists of 212 people selected based on affliction or no affliction to cancer. Social capital emphasizes two dimensions of structure and cognition. Social participation, social trust and sense of social solidarity are considered as different dimensions of social capital. The focus has been on personal social capital. The effect and association of social capital are not significant with any of stomach and colon cancers. The effect and association of social trust are not significant with any of stomach, colon and breast cancers. People with similar social capital in their life have different experiences of cancer-related stress and unhealthy behaviors. Thus a specific feature of a stressful social determinant is not a reliable criterion to determine the degree of stress and the extent of its effect on affliction to cancer.
Herweh, Christian; Ringleb, Peter A; Rauch, Geraldine; Gerry, Steven; Behrens, Lars; Möhlenbruch, Markus; Gottorf, Rebecca; Richter, Daniel; Schieber, Simon; Nagel, Simon
The Alberta Stroke Program Early CT score (ASPECTS) is an established 10-point quantitative topographic computed tomography scan score to assess early ischemic changes. We compared the performance of the e-ASPECTS software with those of stroke physicians at different professional levels. The baseline computed tomography scans of acute stroke patients, in whom computed tomography and diffusion-weighted imaging scans were obtained less than two hours apart, were retrospectively scored by e-ASPECTS as well as by three stroke experts and three neurology trainees blinded to any clinical information. The ground truth was defined as the ASPECTS on diffusion-weighted imaging scored by another two non-blinded independent experts on consensus basis. Sensitivity and specificity in an ASPECTS region-based and an ASPECTS score-based analysis as well as receiver-operating characteristic curves, Bland-Altman plots with mean score error, and Matthews correlation coefficients were calculated. Comparisons were made between the human scorers and e-ASPECTS with diffusion-weighted imaging being the ground truth. Two methods for clustered data were used to estimate sensitivity and specificity in the region-based analysis. In total, 34 patients were included and 680 (34 × 20) ASPECTS regions were scored. Mean time from onset to computed tomography was 172 ± 135 min and mean time difference between computed tomographyand magnetic resonance imaging was 41 ± 31 min. The region-based sensitivity (46.46% [CI: 30.8;62.1]) of e-ASPECTS was better than three trainees and one expert (p ≤ 0.01) and not statistically different from another two experts. Specificity (94.15% [CI: 91.7;96.6]) was lower than one expert and one trainee (p < 0.01) and not statistically different to the other four physicians. e-ASPECTS had the best Matthews correlation coefficient of 0.44 (experts: 0.38 ± 0.08 and trainees: 0.19 ± 0.05) and the lowest mean score error of 0.56 (experts
Colaneri, Michael J; Vitali, Jacqueline; Peisach, Jack
This work deduces from a series of well-defined copper-doped amino acid crystals, relationships between structural features of the copper complexes, and ligand-bound proton hyperfine parameters. These were established by combining results from electron paramagnetic resonance (EPR)/electron-nuclear double resonance (ENDOR) studies, crystallography, and were further assessed by quantum mechanical (QM) calculations. A detailed evaluation of previous studies on Cu(2+) doped into alpha-glycine, triglycine sulfate, alpha-glycylglycine, and L-alanine crystals reveal correlations between geometric features of the copper sites and proton hyperfine couplings from amino-bound and carbon-bound hydrogens. Experimental variations in proton isotropic hyperfine coupling values (a(iso)) could be fit to cosine-square dependences on dihedral angles, namely, for C(alpha)-bound hydrogens, a(iso) = -1.09 + 8.21 cos(2) theta MHz, and for amino hydrogens, a(iso) = -6.16 + 4.15 cos(2) phi MHz. For the C(alpha) hydrogens, this dependency suggests a hyperconjugative-like mechanism for transfer of spin density into the hydrogen 1s orbital. In the course of this work, it was also necessary to reanalyze the ENDOR measurements from Cu(2+)-doped alpha-glycine because the initial study determined the (14)N coupling parameters without holding its nuclear quadrupole tensor traceless. This new treatment of the data was needed to correctly align the (14)N hyperfine tensor principal directions in the molecular complex. To provide a theoretical basis for the coupling variations, QM calculations performed at the DFT level were used to compute the proton hyperfine tensors in the four crystal complexes as well as in a geometry-optimized Cu(2+)(glycine)(2) model. These theoretical calculations confirmed systematic changes in couplings with dihedral angles but greatly overestimated the experimental geometric sensitivity to the amino hydrogen isotropic coupling.
Martinschek, A; Evers, B; Lampl, L; Gerngroß, H; Schmidt, R; Sparwasser, C
To determine predisposing or prognostic factors and mortality rates of patients with Fournier's gangrene compared to other necrotizing soft tissue infections (NSTI). Data of 55 intensive care patients (1981-2010) with NSTI were evaluated. Data were collected prospectively. 43.4% of the patients were in septic condition and 27.3% were hemodynamically unstable. Half of the patients showed predisposing factors (52.7%). The lower extremity (63.2%), abdomen (30.9%), and perineum (14.5%) were most affected. Polymicrobial infections were frequent (65.5%, mean 2.8, range: 1-4). The mortality rate was 16.4% (n = 9). An increase was shown for diabetes mellitus (20%), cardiac insufficiency (22.3%), septic condition at presentation (33.3%), abdominal affection (47.1%), and hemodynamic instability (46.7%). Comparing survivors and nonsurvivors, statistical significance was seen with age (p < 0.001), septic condition at admission (p < 0.001), hemodynamic instability (p < 0.001), low blood pressure (p < 0.001), and abdominal affection (p < 0.001). In laboratory findings, an increase of creatine kinase (p < 0.001) and lactate (p < 0.001) and a decrease of antithrombin III (p < 0.007) and the Quick value (p < 0.01) proved to be significant. Patients with Fournier's gangrene do not differ in all aspects from those with other NSTI. Successful treatment consists of immediate surgical debridement, broad-spectrum antibiotic treatment, and critical care management. Supportive hyperbaric oxygen therapy should be considered. Copyright © 2012 S. Karger AG, Basel.
de Miranda Rocco, Carolina Chiusoli; Sampaio, Luciana Maria Malosá; Stirbulov, Roberto; Corrêa, João Carlos Ferrari
OBJECTIVE: The purpose was to assess functional (balance L–L and A–P displacement, sit‐to‐stand test (SST) and Tinetti scale – balance and gait) and neurophysiological aspects (patellar and Achilles reflex and strength) relating these responses to the BODE Index. INTRODUCTION: The neurophysiological alterations found in patients with chronic obstructive pulmonary disease (COPD) are associated with the severity of the disease. There is also involvement of peripheral muscle which, in combination with neurophysiological impairment, may further compromise the functional activity of these patients. METHODS: A cross‐sectional study design was used. Twenty‐two patients with moderate to very severe COPD (>60 years) and 16 age‐matched healthy volunteers served as the control group (CG). The subjects performed spirometry and several measures of static and dynamic balance, monosynaptic reflexes, peripheral muscle strength, SST and the 6‐minute walk test. RESULTS: The individuals with COPD had a reduced reflex response, 36.77±3.23 (p<0.05) and 43.54±6.60 (p<0.05), achieved a lower number repetitions on the SST 19.27±3.88 (p<0.05), exhibited lesser peripheral muscle strength on the femoral quadriceps muscle, 24.98±6.88 (p<0.05) and exhibited deficits in functional balance and gait on the Tinetti scale, 26.86±1.69 (p<0.05), compared with the CG. The BODE Index demonstrated correlations with balance assessment (determined by the Tinetti scale), r = 0.59 (p<0.05) and the sit‐to‐stand test, r = 0.78 (p<0.05). CONCLUSIONS: The individuals with COPD had functional and neurophysiological alterations in comparison with the control group. The BODE Index was correlated with the Tinetti scale and the SST. Both are functional tests, easy to administer, low cost and feasible, especially the SST. These results suggest a worse prognosis; however, more studies are needed to identify the causes of these changes and the repercussions that could result in their
Pommier de Santi, Vincent; Girod, Romain; Mura, Marie; Dia, Aissata; Briolant, Sébastien; Djossou, Félix; Dusfour, Isabelle; Mendibil, Alexandre; Simon, Fabrice; Deparis, Xavier; Pagès, Frédéric
In December 2010, a Plasmodium vivax malaria outbreak occurred among French forces involved in a mission to control illegal gold mining in French Guiana. The findings of epidemiological and entomological investigations conducted after this outbreak are presented here. Data related to malaria cases reported to the French armed forces epidemiological surveillance system were collected during the epidemic period from December 2010 to April 2011. A retrospective cohort study was conducted to identify presumed contamination sites. Anopheles mosquitoes were sampled at the identified sites using Mosquito Magnet and CDC light traps. Specimens were identified morphologically and confirmed using molecular methods (sequencing of ITS2 gene and/or barcoding). Anopheles infections with Plasmodium falciparum and P. vivax were tested by both enzyme-linked immunosorbent assay and real-time PCR. Seventy-two P. vivax malaria cases were reported (three were mixed P. falciparum/P. vivax infections), leading to a global attack rate of 26.5% (72/272). Lack of compliance with vector control measures and doxycycline chemoprophylaxis was reported by patients. Two illegal gold mining sites located in remote areas in the primary forest were identified as places of contamination. In all, 595 Anopheles females were caught and 528 specimens were formally identified: 305 Anopheles darlingi, 145 Anopheles nuneztovari s.l., 63 Anopheles marajoara and 15 Anopheles triannulatus s.l. Three An. darlingi were infected by P. falciparum (infection rate: 1.1%) and four An. marajoara by P. vivax (infection rate: 6.4%). The main drivers of the outbreak were the lack of adherence by military personnel to malaria prevention measures and the high level of malaria transmission at illegal gold mining sites. Anopheles marajoara was clearly implicated in malaria transmission for the first time in French Guiana. The high infection rates observed confirm that illegal gold mining sites must be considered as high level
Rall, Katharina; Barresi, Gianmaria; Walter, Michael; Poths, Sven; Haebig, Karina; Schaeferhoff, Karin; Schoenfisch, Birgitt; Riess, Olaf; Wallwiener, Diethelm; Bonin, Michael; Brucker, Sara
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is present in at least 1 out of 4,500 female live births and is the second most common cause for primary amenorrhea. It is characterized by vaginal and uterine aplasia in an XX individual with normal secondary characteristics. It has long been considered a sporadic anomaly, but familial clustering occurs. Several candidate genes have been studied although no single factor has yet been identified. Cases of discordant monozygotic twins suggest that the involvement of epigenetic factors is more likely. Differences in gene expression and methylation patterns of uterine tissue between eight MRKH patients and eight controls were identified using whole-genome microarray analyses. Results obtained by expression and methylation arrays were confirmed by qRT-PCR and pyrosequencing. We delineated 293 differentially expressed and 194 differentially methylated genes of which nine overlap in both groups. These nine genes are mainly embryologically relevant for the development of the female genital tract. Our study used, for the first time, a combined whole-genome expression and methylation approach to reveal the etiology of the MRKH syndrome. The findings suggest that either deficient estrogen receptors or the ectopic expression of certain HOXA genes might lead to abnormal development of the female reproductive tract. In utero exposure to endocrine disruptors or abnormally high maternal hormone levels might cause ectopic expression or anterior transformation of HOXA genes. It is, however, also possible that different factors influence the anti-Mullerian hormone promoter activity during embryological development causing regression of the Müllerian ducts. Thus, our data stimulate new research directions to decipher the pathogenic basis of MRKH syndrome.
Background The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is present in at least 1 out of 4,500 female live births and is the second most common cause for primary amenorrhea. It is characterized by vaginal and uterine aplasia in an XX individual with normal secondary characteristics. It has long been considered a sporadic anomaly, but familial clustering occurs. Several candidate genes have been studied although no single factor has yet been identified. Cases of discordant monozygotic twins suggest that the involvement of epigenetic factors is more likely. Methods Differences in gene expression and methylation patterns of uterine tissue between eight MRKH patients and eight controls were identified using whole-genome microarray analyses. Results obtained by expression and methylation arrays were confirmed by qRT-PCR and pyrosequencing. Results We delineated 293 differentially expressed and 194 differentially methylated genes of which nine overlap in both groups. These nine genes are mainly embryologically relevant for the development of the female genital tract. Conclusion Our study used, for the first time, a combined whole-genome expression and methylation approach to reveal the etiology of the MRKH syndrome. The findings suggest that either deficient estrogen receptors or the ectopic expression of certain HOXA genes might lead to abnormal development of the female reproductive tract. In utero exposure to endocrine disruptors or abnormally high maternal hormone levels might cause ectopic expression or anterior transformation of HOXA genes. It is, however, also possible that different factors influence the anti-Mullerian hormone promoter activity during embryological development causing regression of the Müllerian ducts. Thus, our data stimulate new research directions to decipher the pathogenic basis of MRKH syndrome. PMID:21619687
Brookes, Gavin; Baker, Paul
To examine the key themes of positive and negative feedback in patients' online feedback on NHS (National Health Service) services in England and to understand the specific issues within these themes and how they drive positive and negative evaluation. Computer-assisted quantitative and qualitative studies of 228 113 comments (28 971 142 words) of online feedback posted to the NHS Choices website. Comments containing the most frequent positive and negative evaluative words are qualitatively examined to determine the key drivers of positive and negative feedback. Contributors posting comments about the NHS between March 2013 and September 2015. Overall, NHS services were evaluated positively approximately three times more often than negatively. The four key areas of focus were: treatment, communication, interpersonal skills and system/organisation. Treatment exhibited the highest proportion of positive evaluative comments (87%), followed by communication (77%), interpersonal skills (44%) and, finally, system/organisation (41%). Qualitative analysis revealed that reference to staff interpersonal skills featured prominently, even in comments relating to treatment and system/organisational issues. Positive feedback was elicited in cases of staff being caring, compassionate and knowing patients'' names, while rudeness, apathy and not listening were frequent drivers of negative feedback. Although technical competence constitutes an undoubtedly fundamental aspect of healthcare provision, staff members were much more likely to be evaluated both positively and negatively according to their interpersonal skills. Therefore, the findings reported in this study highlight the salience of such 'soft' skills to patients and emphasise the need for these to be focused upon and developed in staff training programmes, as well as ensuring that decisions around NHS funding do not result in demotivated and rushed staff. The findings also reveal a significant overlap between the four key
Herbert, Sandra; Pierce, Robyn
Rate (of change) is an important but complicated mathematical concept describing a ratio comparing two different numeric, measurable quantities. Research referring to students' difficulties with this concept spans more than 20 years. It suggests that problems experienced by some calculus students are likely a result of pre-existing limited or…
Background Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are difficult to diagnose. We have developed a targeted exome sequencing approach to improve our ability to properly diagnose mitochondrial diseases and apply it here to an individual patient. Our method targets mitochondrial DNA (mtDNA) and the exons of 1,600 nuclear genes involved in mitochondrial biology or Mendelian disorders with multi-system phenotypes, thereby allowing for simultaneous evaluation of multiple disease loci. Case Presentation Targeted exome sequencing was performed on a patient initially suspected to have a mitochondrial disorder. The patient presented with diabetes mellitus, diffuse brain atrophy, autonomic neuropathy, optic nerve atrophy, and a severe amnestic syndrome. Further work-up revealed multiple heteroplasmic mtDNA deletions as well as profound thiamine deficiency without a clear nutritional cause. Targeted exome sequencing revealed a homozygous c.1672C > T (p.R558C) missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome. Conclusion This case demonstrates how clinical application of next-generation sequencing technology can enhance the diagnosis of patients suspected to have rare genetic disorders. Furthermore, the finding of unexplained thiamine deficiency in a patient with Wolfram syndrome suggests a potential link between WFS1 biology and thiamine metabolism that has implications for the clinical management of Wolfram syndrome patients. PMID:22226368
Background Fanconi anemia (FA) is a rare inherited genetic syndrome with highly variable clinical manifestations. Fifteen genetic subtypes of FA have been identified. Traditional complementation tests for grouping studies have been used generally in FA patients and in stepwise methods to identify the FA type, which can result in incomplete genetic information from FA patients. Methods We diagnosed five pediatric patients with FA based on clinical manifestations, and we performed exome sequencing of peripheral blood specimens from these patients and their family members. The related sequencing data were then analyzed by bioinformatics, and the FANC gene mutations identified by exome sequencing were confirmed by PCR re-sequencing. Results Homozygous and compound heterozygous mutations of FANC genes were identified in all of the patients. The FA subtypes of the patients included FANCA, FANCM and FANCD2. Interestingly, four FA patients harbored multiple mutations in at least two FA genes, and some of these mutations have not been previously reported. These patients’ clinical manifestations were vastly different from each other, as were their treatment responses to androstanazol and prednisone. This finding suggests that heterozygous mutation(s) in FA genes could also have diverse biological and/or pathophysiological effects on FA patients or FA gene carriers. Interestingly, we were not able to identify de novo mutations in the genes implicated in DNA repair pathways when the sequencing data of patients were compared with those of their parents. Conclusions Our results indicate that Chinese FA patients and carriers might have higher and more complex mutation rates in FANC genes than have been conventionally recognized. Testing of the fifteen FANC genes in FA patients and their family members should be a regular clinical practice to determine the optimal care for the individual patient, to counsel the family and to obtain a better understanding of FA pathophysiology
Jinda, Worapoj; Taylor, Todd D; Suzuki, Yutaka; Thongnoppakhun, Wanna; Limwongse, Chanin; Lertrit, Patcharee; Suriyaphol, Prapat; Trinavarat, Adisak; Atchaneeyasakul, La-ongsri
To identify disease-causing mutations and describe genotype-phenotype correlations in Thai patients with nonsyndromic retinitis pigmentosa (RP). Whole exome sequencing was performed in 20 unrelated patients. Eighty-six genes associated with RP, Leber congenital amaurosis, and cone-rod dystrophy were analyzed for variant detection. Seventeen variants (13 novel and 4 known) in 13 genes were identified in 11 patients. These variants include 10 missense substitutions, 2 nonsense mutations, 3 deletions, 1 insertion, and 1 splice site change. Nine patients with identified inheritance patterns carried a total of 10 potentially pathogenic mutations located in genes CRB1, C8orf37, EYS, PROM1, RP2, and USH2A. Three of the nine patients also demonstrated additional heterozygous variants in genes ABCA4, GUCY2D, RD3, ROM1, and TULP1. In addition, two patients carried variants of uncertain significance in genes FSCN2 and NR2E3. The RP phenotypes of our patients were consistent with previous reports. This is the first report of mutations in Thai RP patients. These findings are useful for genotype-phenotype comparisons among different ethnic groups.
Kim, Do Hee; Kwon, Hee Jin; Ji, Sang A; Jang, Hye Ryoun; Jung, Sin-Ho; Kim, Jung-Han; Kim, Jae Hyeon; Lee, Jung Eun; Huh, Wooseong; Kim, Yoon-Goo; Kim, Dae Joong; Oh, Ha Young
Primary aldosteronism (PA) may induce significant decline of renal function and structural damage of kidney. However, it is difficult to evaluate accurate renal function in patients with PA, because glomerular hyperfiltration and aldosterone escape can conceal renal impairment. In this retrospective cohort study, we compared changes in renal function after unilateral adrenalectomy between patients with PA and patients with other adrenal diseases. Risk factors associated with postoperative renal impairment in patients with PA were analyzed.A total of 558 patients who received unilateral adrenalectomy between January 2002 and June 2013 were included: 136 patients with PA and 422 patients with other adrenal diseases (control). Postoperative serial changes in estimated glomerular filtration rate (eGFR) were analyzed in both groups. Multivariate analyses were performed to identify risk factors of renal impairment after adrenalectomy in all patients and the PA group. Postoperative renal impairment was defined as postoperative eGFR decline of >25% from preoperative eGFR. Chronic kidney disease (CKD) was defined as an eGFR <60 mL/min/1.73 m.There were no differences in preoperative eGFR between groups. The PA group showed a significant decrease in eGFR 3 days, 2 weeks, and 6 months after surgery compared to the control group. The PA group showed significant improvement of hypertension after surgery. In the PA group, 53 (39.0%) patients showed postoperative renal impairment. Multivariate regression analysis identified long-standing hypertension, low body mass index, low serum potassium, and high preoperative eGFR as risk factors for postoperative renal impairment. Among the 89 patients with preoperative eGFR ≥60 mL/min/1.73 m, 29 (32.6%) patients developed CKD postoperatively. Age, low serum potassium, low preoperative eGFR, and high serum cholesterol or uric acid were associated with the postoperative CKD development.Our study demonstrates that patients with PA
Brand, Matthias; Eggers, Carsten; Reinhold, Nadine; Fujiwara, Esther; Kessler, Josef; Heiss, Wolf-Dieter; Markowitsch, Hans J
Dissociative amnesia is a condition usually characterized by severely impaired retrograde memory functioning in the absence of structural brain damage. Recent case studies nevertheless found functional brain changes in patients suffering from autobiographical-episodic memory loss in the cause of dissociative amnesia. Functional changes were demonstrated in both resting state and memory retrieval conditions. In addition, some but not all cases also showed other neuropsychological impairments beyond retrograde memory deficits. However, there is no group study available that examined potential functional brain abnormalities and accompanying neuropsychological deteriorations in larger samples of patients with dissociative retrograde amnesia. We report functional imaging and neuropsychological data acquired in 14 patients with dissociative amnesia following stressful or traumatic events. All patients suffered from autobiographical memory loss. In addition, approximately half of the patients had deficits in anterograde memory and executive functioning. Accompanying functional brain changes were measured by [18F]fluorodeoxyglucose positron emission tomography (FDG-PET). Regional glucose utilization of the patients was compared with that of 19 healthy subjects, matched for age and gender. We found significantly decreased glucose utilization in the right inferolateral prefrontal cortex in the patients. Hypometabolism in this brain region, known to be involved in retrieval of autobiographical memories and self-referential processing, may be a functional brain correlate of dissociative amnesia.
Narita, Hisashi; Tha, Khin K; Hashimoto, Naoki; Hamaguchi, Hiroyuki; Nakagawa, Shin; Shirato, Hiroki; Kusumi, Ichiro
Diffusion kurtosis imaging can provide a better understanding of microstructural white matter (WM) changes where crossing fibers exist, compared with conventional diffusion tensor imaging. Here, we aimed to examine the differences of mean kurtosis (MK) and fractional anisotropy (FA) values between patients with schizophrenia and control subjects using voxel-based analysis (VBA). Additionally, we examined the correlation between these values and severity of clinical symptoms in patients with schizophrenia. MK and FA values were acquired with a 3.0T scanner from 31 patients with schizophrenia and 31 age-, handedness-, and sex-matched healthy controls. VBA was used to compare the MK and FA maps of the patients with schizophrenia and healthy controls. We also performed a correlation analysis between the MK and FA values of the regions with significant differences and the positive and negative syndrome scale scores in patients with schizophrenia. Compared to FA values, voxels with MK decrease were more widespread across bilateral cerebral the WM of patients with schizophrenia. The MK values of left superior longitudinal fasciculus were significantly negatively correlated with the severity of positive symptoms (r=-0.451, P=0.011). There was no significant correlation between MK and FA values and other clinical variables. The diffusion kurtosis indices are suitable for evaluating altered WM structures in the human brain as they may detect white matter alterations of crossing fibers alterations of WM in schizophrenia and assess the clinical state of patients. Copyright © 2016 Elsevier Inc. All rights reserved.
Arons, Alexander M M; Krabbe, Paul F M; Schölzel-Dorenbos, Carla J M; van der Wilt, Gert Jan; Olde Rikkert, Marcel G M
Conventional techniques to measure health-related quality of life (HRQoL) in a single value or index are complex, require abstract reasoning skills, and are prone to biases (e.g., adaptation). A possible alternative that requires less cognitive demand is Thurstone scaling. The present explorative study investigates the feasibility and concurrent validity of using Thurstone scaling to elicit health-state values in patients with dementia and their proxies. The participants in the present study were 145 pairs, consisting of community-dwelling persons with dementia and their proxies. We administered the prototype of the dementia quality-of-life instrument (DQI), a dementia-specific HRQoL index instrument, to both patients and proxies. The patient's health state as defined by the DQI was placed randomly among nine other DQI health states and these were ranked from best to worst. These rankings were used for Thurstone scaling. After ranking, the health states were placed on a visual analogue scale (VAS). Thurstone scaling had a completion rate of 37% for patients and 88% for proxies. Thurstone scaling showed a high correspondence with VAS values. In addition, we identified a trend that shows that patients value most of the evaluated health states systematically lower than proxies. Thurstone scaling proved to be unfeasible for most patients, but feasible for proxies. Its concurrent validity was supported and new insights into patient-proxy discrepancies were discovered. Copyright © 2012 Elsevier Inc. All rights reserved.
Konstas, Angelos Aristeidis; Minaeian, Artin; Ross, Ian B
There is lack of published studies on mechanical thrombectomy with stent retrievers for wake-up stroke (WUS). To report the outcomes of WUS patients with large vessel occlusions, selected for intervention based on Alberta Stroke Program Early CT Score (ASPECTS) and treated with stent retrievers or primary aspiration thrombectomy. Data were collected retrospectively for each consecutive WUS patient undergoing mechanical thrombectomy with a stent retriever or primary aspiration catheter between February 2015 and September 2016. ASPECTS ≥ 6 was used as the primary imaging criterion for offering thrombectomy in these WUS patients. Main outcomes were the in-hospital improvement in the National Institutes of Health Stroke Scale (NIHSS) and the occurrence of symptomatic hemorrhage. Twelve patients were included in this study; 11 were treated with stent retrievers and 1 was treated with primary aspiration thrombectomy alone. Successful recanalization was achieved in 100% of the patients (33% thrombolysis in cerebral infarction [TICI] 2B and 67% TICI 3). Every patient experienced a reduction in the NIHSS during hospitalization, with a mean NIHSS decrease of 11.1 ± 5.1 points. There was a trend for a larger reduction in the NIHSS in patients with TICI 3 compared to TICI 2B recanalization. There was no symptomatic intracranial hemorrhage in our cohort. For patients with WUS, careful selection of patients using ASPECTS may allow for safe interventions, with low risk of clinical deterioration, and no-periprocedural mortality. All our patients demonstrated a reduction in their NIHSS after the thrombectomy and clinical improvement. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.
Barboza, J M; Medina, H; Doria, M; Rivero, L; Hernandez, L; Joshi, N V
Atomic force microscopy (AFM) has been employed to examine morphological and topographical changes caused by human immunodeficiency virus (HIV) and the effects of highly active antiretroviral therapy (HAART) on spermatozoon of HIV infected patients. This powerful technique has allowed us to visualize morphological alterations present in the spermatozoa of patients either with or without treatment. In addition to this, even the minute details, such as viral particles, located on the membrane of the spermatozoa, and the merging of such particles on the surface of the spermatozoa were detected with precision. The most important aspect is that AFM, unlike electron microscopy, permits to image virions in their nearly natural environment. Excess of damage of spermatozoon is due to the chemicals involved in HAART rather than the damage made by virus.
Identification of aspects of functioning, disability and health relevant to patients experiencing vertigo: a qualitative study using the international classification of functioning, disability and health
Purpose Aims of this study were to identify aspects of functioning and health relevant to patients with vertigo expressed by ICF categories and to explore the potential of the ICF to describe the patient perspective in vertigo. Methods We conducted a series of qualitative semi-structured face-to-face interviews using a descriptive approach. Data was analyzed using the meaning condensation procedure and then linked to categories of the International Classification of Functioning, Disability and Health (ICF). Results From May to July 2010 12 interviews were carried out until saturation was reached. Four hundred and seventy-one single concepts were extracted which were linked to 142 different ICF categories. 40 of those belonged to the component body functions, 62 to the component activity and participation, and 40 to the component environmental factors. Besides the most prominent aspect “dizziness” most participants reported problems within “Emotional functions (b152), problems related to mobility and carrying out the daily routine. Almost all participants reported “Immediate family (e310)” as a relevant modifying environmental factor. Conclusions From the patients’ perspective, vertigo has impact on multifaceted aspects of functioning and disability, mainly body functions and activities and participation. Modifying contextual factors have to be taken into account to cover the complex interaction between the health condition of vertigo on the individuals’ daily life. The results of this study will contribute to developing standards for the measurement of functioning, disability and health relevant for patients suffering from vertigo. PMID:22738067
Odes, Shmuel; Friger, Michael; Sergienko, Ruslan; Schwartz, Doron; Sarid, Orly; Slonim-Nevo, Vered; Singer, Terri; Chernin, Elena; Vardi, Hillel; Greenberg, Dan; Israel IBD Research Nucleus
AIM To determine whether pain has psycho-social associations in adult Crohn’s disease (CD) patients. METHODS Patients completed demographics, disease status, Patient Harvey-Bradshaw Index (P-HBI), Short Form Health Survey (SF-36), Short Inflammatory Bowel Disease Questionnaire (SIBDQ), and five socio-psychological questionnaires: Brief Symptom Inventory, Brief COPE Inventory, Family Assessment Device, Satisfaction with Life Scale, and Work Productivity and Activity Impairment Questionnaire. Pain sub-scales in P-HBI, SF-36 and SIBDQ measures were recoded into 4 identical scores for univariate and multinomial logistic regression analysis of associations with psycho-social variables. RESULTS The cohort comprised 594 patients, mean age 38.6 ± 14.8 years, women 52.5%, P-HBI 5.76 ± 5.15. P-HBI, SF-36 and SIBDQ broadly agreed in their assessment of pain intensity. More severe pain was significantly associated with female gender, low socio-economic status, unemployment, Israeli birth and smoking. Higher pain scores correlated positively with psychological stress, dysfunctional coping strategies, poor family relationships, absenteeism, presenteeism, productivity loss and activity impairment and all WPAI sub-scores. Patients exhibiting greater satisfaction with life had less pain. The regression showed increasing odds ratios for psychological stress (lowest 2.26, highest 12.17) and female gender (highest 3.19) with increasing pain. Internet-recruited patients were sicker and differed from hardcopy questionnaire patients in their associations with pain. CONCLUSION Pain measures in P-HBI, SF-36 and SIBDQ correlate with psycho-social pathology in CD. Physicians should be aware also of these relationships in approaching CD patients with pain. PMID:28246482
Background In conventional Chinese culture, awareness of a malignant disease is believed to increase a patient’s psychological pressure, leading to anxiety or depression. But this notion is in conflict with the patient’s right to receive information about their own disease. Methods This study is to investigate whether disclosure of diagnosis increases the level of anxiety or depression in patients diagnosed with lung cancer. Seventy patients who underwent lung resection and diagnosed with lung cancer postoperatively were divided into two groups—the disclosed group (n=35) and the undisclosed group (n=35), depending on the awareness of their diagnosis, as decided by their consigned family members. All patients were asked to fill in a form to evaluate their level of anxiety and depression before discharge. Results Disclosure of diagnosis did not affect the degree of anxiety or depression in patients with lung cancer (P>0.05). Age ≤50, relatively more advanced stage (stage II as compared with stage I) of disease, extensive surgery and major postoperative complication were risk factors of anxiety (P<0.05). Major postoperative complication was the only risk factor of depression (P<0.05). Conclusions Disclosure of diagnosis to patients with lung cancer does not induce or aggravate anxiety or depression in modern Chinese population. Factors such as complications, age, stage of disease and extent of surgery do have psychological impacts on patient with lung cancer. PMID:27867564
Sengillo, Jesse D; Cabral, Thiago; Schuerch, Kaspar; Duong, Jimmy; Lee, Winston; Boudreault, Katherine; Xu, Yu; Justus, Sally; Sparrow, Janet R; Mahajan, Vinit B; Tsang, Stephen H
Usher syndrome is an inherited and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss. Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP. Although gene- and cell-based therapies are on the horizon for RP and Usher syndrome, studies characterizing natural disease are lacking. In this retrospective analysis, retinal function of USH2A patients was quantified with electroretinography. Both groups had markedly reduced rod and cone responses, but nonsyndromic USH2A patients had 30 Hz-flicker electroretinogram amplitudes that were significantly higher than syndromic patients, suggesting superior residual cone function. There was a tendency for Usher syndrome patients to have a higher distribution of severe mutations, and alleles in this group had a higher odds of containing nonsense or frame-shift mutations. These data suggest that the previously reported severe visual phenotype seen in syndromic USH2A patients could relate to a greater extent of cone dysfunction. Additionally, a genetic threshold may exist where mutation burden relates to visual phenotype and the presence of hearing deficits. The auditory phenotype and allelic hierarchy observed among patients should be considered in prospective studies of disease progression and during enrollment for future clinical trials.
Ssengooba, Willy; de Jong, Bouke C; Joloba, Moses L; Cobelens, Frank G; Meehan, Conor J
In the context of advanced immunosuppression, M. tuberculosis is known to cause detectable mycobacteremia. However, little is known about the intra-patient mycobacterial microevolution and the direction of seeding between the sputum and blood compartments. From a diagnostic study of HIV-infected TB patients, 51 pairs of concurrent blood and sputum M. tuberculosis isolates from the same patient were available. In a previous analysis, we identified a subset with genotypic concordance, based on spoligotyping and 24 locus MIRU-VNTR. These paired isolates with identical genotypes were analyzed by whole genome sequencing and phylogenetic analysis. Of the 25 concordant pairs (49 % of the 51 paired isolates), 15 (60 %) remained viable for extraction of high quality DNA for whole genome sequencing. Two patient pairs were excluded due to poor quality sequence reads. The median CD4 cell count was 32 (IQR; 16-101)/mm(3) and ten (77 %) patients were on ART. No drug resistance mutations were identified in any of the sequences analyzed. Three (23.1 %) of 13 patients had SNPs separating paired isolates from blood and sputum compartments, indicating evidence of microevolution. Using a phylogenetic approach to identify the ancestral compartment, in two (15 %) patients the blood isolate was ancestral to the sputum isolate, in one (8 %) it was the opposite, and ten (77 %) of the pairs were identical. Among HIV-infected patients with poor cellular immunity, infection with multiple strains of M. tuberculosis was found in half of the patients. In those patients with identical strains, whole genome sequencing indicated that M. tuberculosis intra-patient microevolution does occur in a few patients, yet did not reveal a consistent direction of spread between sputum and blood. This suggests that these compartments are highly connected and potentially seed each other repeatedly.
Rossios, Christos; Pavlidis, Stelios; Hoda, Uruj; Kuo, Chih-Hsi; Wiegman, Coen; Russell, Kirsty; Sun, Kai; Loza, Matthew J; Baribaud, Frederic; Durham, Andrew L; Ojo, Oluwaseun; Lutter, Rene; Rowe, Anthony; Bansal, Aruna; Auffray, Charles; Sousa, Ana; Corfield, Julie; Djukanovic, Ratko; Guo, Yike; Sterk, Peter J; Chung, Kian Fan; Adcock, Ian M
Sputum analysis in asthmatic patients is used to define airway inflammatory processes and might guide therapy. We sought to determine differential gene and protein expression in sputum samples from patients with severe asthma (SA) compared with nonsmoking patients with mild/moderate asthma. Induced sputum was obtained from nonsmoking patients with SA, smokers/ex-smokers with severe asthma, nonsmoking patients with mild/moderate asthma (MMAs), and healthy nonsmoking control subjects. Differential cell counts, microarray analysis of cell pellets, and SOMAscan analysis of sputum analytes were performed. CRID3 was used to inhibit the inflammasome in a mouse model of SA. Eosinophilic and mixed neutrophilic/eosinophilic inflammation were more prevalent in patients with SA compared with MMAs. Forty-two genes probes were upregulated (>2-fold) in nonsmoking patients with severe asthma compared with MMAs, including IL-1 receptor (IL-1R) family and nucleotide-binding oligomerization domain, leucine-rich repeat and pyrin domain containing 3 (NRLP3) inflammasome members (false discovery rate < 0.05). The inflammasome proteins nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1 (NLRP1), NLRP3, and nucleotide-binding oligomerization domain (NOD)-like receptor C4 (NLRC4) were associated with neutrophilic asthma and with sputum IL-1β protein levels, whereas eosinophilic asthma was associated with an IL-13-induced TH2 signature and IL-1 receptor-like 1 (IL1RL1) mRNA expression. These differences were sputum specific because no activation of NLRP3 or enrichment of IL-1R family genes in bronchial brushings or biopsy specimens in patients with SA was observed. Expression of NLRP3 and of the IL-1R family genes was validated in the Airway Disease Endotyping for Personalized Therapeutics cohort. Inflammasome inhibition using CRID3 prevented airway hyperresponsiveness and airway inflammation (both neutrophilia and eosinophilia) in a mouse model
Mouhajir, Abdelmounaim; Matray, Olivier; Giraud, Sandrine; Mély, Laurent; Marguet, Christophe; Sermet-Gaudelus, Isabelle; Le Gal, Solène; Labbé, Franck; Person, Christine; Troussier, Françoise; Ballet, Jean-Jacques; Gargala, Gilles; Zouhair, Rachid; Bougnoux, Marie-Elisabeth; Bouchara, Jean-Philippe; Favennec, Loïc
The aim of this work was to document molecular epidemiology of Rasamsonia argillacea species complex isolates from cystic fibrosis (CF) patients. In this work, 116 isolates belonging to this species complex and collected from 26 CF patients and one patient with chronic granulomatous disease were characterized using PCR amplification assays of repetitive DNA sequences and electrophoretic separation of amplicons (rep-PCR). Data revealed a clustering consistent with molecular species identification. A single species was recovered from most patients. Rasamsonia aegroticola was the most common species, followed by R. argillacea sensu stricto and R. piperina, while R. eburnea was not identified. Of 29 genotypes, 7 were shared by distinct patients while 22 were patient specific. In each clinical sample, most isolates exhibited an identical genotype. Genotyping of isolates recovered from sequential samples from the same patient confirmed the capability of R. aegroticola and R. argillacea isolates to chronically colonize the airways. A unique genotype was recovered from two siblings during a 6-month period. In the other cases, a largely dominant genotype was detected. Present results which support the use of rep-PCR for both identification and genotyping for the R. argillacea species complex provide the first molecular evidence of chronic airway colonization by these fungi in CF patients. Copyright © 2016, American Society for Microbiology. All Rights Reserved.
Mouhajir, Abdelmounaim; Matray, Olivier; Giraud, Sandrine; Mély, Laurent; Marguet, Christophe; Sermet-Gaudelus, Isabelle; Le Gal, Solène; Labbé, Franck; Person, Christine; Troussier, Françoise; Ballet, Jean-Jacques; Gargala, Gilles; Zouhair, Rachid; Bougnoux, Marie-Elisabeth; Bouchara, Jean-Philippe
The aim of this work was to document molecular epidemiology of Rasamsonia argillacea species complex isolates from cystic fibrosis (CF) patients. In this work, 116 isolates belonging to this species complex and collected from 26 CF patients and one patient with chronic granulomatous disease were characterized using PCR amplification assays of repetitive DNA sequences and electrophoretic separation of amplicons (rep-PCR). Data revealed a clustering consistent with molecular species identification. A single species was recovered from most patients. Rasamsonia aegroticola was the most common species, followed by R. argillacea sensu stricto and R. piperina, while R. eburnea was not identified. Of 29 genotypes, 7 were shared by distinct patients while 22 were patient specific. In each clinical sample, most isolates exhibited an identical genotype. Genotyping of isolates recovered from sequential samples from the same patient confirmed the capability of R. aegroticola and R. argillacea isolates to chronically colonize the airways. A unique genotype was recovered from two siblings during a 6-month period. In the other cases, a largely dominant genotype was detected. Present results which support the use of rep-PCR for both identification and genotyping for the R. argillacea species complex provide the first molecular evidence of chronic airway colonization by these fungi in CF patients. PMID:27605712
Raimondo, Federico; Rohaut, Benjamin; Demertzi, Athena; Valente, Melanie; Engemann, Denis; Salti, Moti; Fernandez Slezak, Diego; Naccache, Lionel; Sitt, Jacobo D
Objective We here aimed at characterizing heart-brain interactions in patients with disorders of consciousness. We tested how this information impacts data-driven classification between unresponsive and minimally conscious patients. Methods A cohort of 127 patients in vegetative state/unresponsive wakefulness syndrome (VS/UWS, n=70) and minimally conscious state (MCS, n=57) were presented with the 'Local-Global' auditory oddball paradigm, which distinguishes two levels of processing: short-term deviation of local auditory regularities and global long-term rule violations. In addition to previously validated markers of consciousness extracted from electroencephalograms (EEG), we computed autonomic cardiac markers, such as heart rate and variability (HR, HRV), and cardiac cycle phase-shifts triggered by the processing of the auditory stimuli. Results HR and HRV were similar in patients across groups. The cardiac cycle was not sensitive to the processing of local regularities in either the VS/UWS or MCS patients. In contrast, global regularities induced a phase-shift of the cardiac cycle exclusively in the MCS group. The interval between the auditory stimulation and the following R-peak was significantly shortened in MCS when the auditory rule was violated. When the information of the cardiac cycle modulations and other consciousness-related EEG markers were combined, single-patient classification performance was enhanced compared to classification with solely EEG markers. Interpretation Our work shows a link between residual cognitive processing and the modulation of autonomic somatic markers. These results open a new window to evaluate patients with disorders of consciousness via the embodied paradigm, according to which body-brain functions contribute to a holistic approach to conscious processing. This article is protected by copyright. All rights reserved. © 2017 American Neurological Association.
Wooley, Jennifer A; Btaiche, Imad F; Good, Kelley L
Acute renal failure (ARF) is rarely an isolated process but is often a complication of underlying conditions such as sepsis, trauma, and multiple-organ failure in critically ill patients. As such, concomitant clinical conditions significantly affect patient outcome. Poor nutritional status is a major factor in increasing patients' morbidity and mortality. Malnutrition in ARF patients is caused by hypercatabolism and hypermetabolism that parallel the severity of illness. When dialytic intervention is indicated, continuous renal replacement therapy (CRRT) is a commonly used alternative to intermittent hemodialysis because it is well tolerated by hemodynamically unstable patients. This paper reviews the metabolic and nutritional alterations associated with ARF and provides recommendations regarding the nutritional, fluid, electrolyte, micronutrient, and acid-base management of these patients. The basic principles of CRRT are addressed, along with their nutritional implications in critically ill patients. A patient case is presented to illustrate the clinical application of topics covered within the paper.
Rogers, S N; El-Sheikha, J; Lowe, D
The purpose of the Patients Concerns Inventory (PCI) is to identify the concerns that patients would like to discuss during their consultation. The PCI covers a range of issues including hearing, intimacy, fatigue, financial/benefits, PEG tube, relationships, regret, support for family, and wound healing. It also lists MDT members that patients would like to see or be referred on to. The PCI is completed using a touch-screen computer (TST) immediately before consultation. Responses are networked into the consultation room. A 28 weeks pilot for one consultant ran from August 2007 with 123 (of maximum 150) patients. The median time to complete the TST was 8min. Patients most frequently selected fear of recurrence (37%), dental health/teeth (27%), chewing (24%), pain in head/neck (20%), fatigue/tiredness (19%), saliva (18%) and swallowing (18%). The two MDT members they wished to see were dentist (19%) and speech/language therapist (10%). The vast majority felt the PCI made a difference (quite a bit/very much) to their consultation as it made it 'a bit more personal', 'reminds them of the points they want discussed', 'allows the consultation to get straight to the point'. Although the PCI can raise many issues it did not noticeably prolong the consultation (median 8min with PCI, 7min without PCI). The Patients Concerns Inventory (PCI) helps focus the consultation onto patient needs and promotes multidisciplinary care. Following this very successful pilot the PCI is being rolled out to other consultants in the H & N clinic.
Adebimpe, Azeez; Aarabi, Ardalan; Bourel-Ponchel, Emilie; Mahmoudzadeh, Mahdi; Wallois, Fabrice
There is growing evidence that brain networks are altered in epileptic subjects. In this study, we investigated the functional connectivity and brain network properties of benign childhood epilepsy with centrotemporal spikes using graph theory. Benign childhood epilepsy with centrotemporal spikes is the most common form of idiopathic epilepsy in young children under the age of 16 years. High-density EEG data were recorded from patients and controls in resting state with eyes closed. Data were preprocessed and spike and spike-free segments were selected for analysis. Phase locking value was calculated for all paired combinations of channels and for five frequency bands (δ, θ, α, β1 and β2). We computed the degree and small-world parameters--clustering coefficient (C) and path length (L)--and compared the two patient conditions to controls. A higher degree at epileptic zones during interictal epileptic spikes (IES) was observed in all frequency bands. Both patient conditions reduced connection at the occipital and right frontal regions close to the epileptic zone in the α band. The "small-world" features (high C and short L) were deviated in patients compared to controls. A changed from an ordered network in the δ band to a more randomly organized network in the α band was observed in patients compared to healthy controls. These findings show that the benign epileptic brain network is disrupted not only at the epileptic zone, but also in other brain regions especially frontal regions.
Chabon, Jacob J; Simmons, Andrew D; Lovejoy, Alexander F; Esfahani, Mohammad S; Newman, Aaron M; Haringsma, Henry J; Kurtz, David M; Stehr, Henning; Scherer, Florian; Karlovich, Chris A; Harding, Thomas C; Durkin, Kathleen A; Otterson, Gregory A; Purcell, W Thomas; Camidge, D Ross; Goldman, Jonathan W; Sequist, Lecia V; Piotrowska, Zofia; Wakelee, Heather A; Neal, Joel W; Alizadeh, Ash A; Diehn, Maximilian
Circulating tumour DNA (ctDNA) analysis facilitates studies of tumour heterogeneity. Here we employ CAPP-Seq ctDNA analysis to study resistance mechanisms in 43 non-small cell lung cancer (NSCLC) patients treated with the third-generation epidermal growth factor receptor (EGFR) inhibitor rociletinib. We observe multiple resistance mechanisms in 46% of patients after treatment with first-line inhibitors, indicating frequent intra-patient heterogeneity. Rociletinib resistance recurrently involves MET, EGFR, PIK3CA, ERRB2, KRAS and RB1. We describe a novel EGFR L798I mutation and find that EGFR C797S, which arises in ∼33% of patients after osimertinib treatment, occurs in <3% after rociletinib. Increased MET copy number is the most frequent rociletinib resistance mechanism in this cohort and patients with multiple pre-existing mechanisms (T790M and MET) experience inferior responses. Similarly, rociletinib-resistant xenografts develop MET amplification that can be overcome with the MET inhibitor crizotinib. These results underscore the importance of tumour heterogeneity in NSCLC and the utility of ctDNA-based resistance mechanism assessment.
Chabon, Jacob J.; Simmons, Andrew D.; Lovejoy, Alexander F.; Esfahani, Mohammad S.; Newman, Aaron M.; Haringsma, Henry J.; Kurtz, David M.; Stehr, Henning; Scherer, Florian; Karlovich, Chris A.; Harding, Thomas C.; Durkin, Kathleen A.; Otterson, Gregory A.; Purcell, W. Thomas; Camidge, D. Ross; Goldman, Jonathan W.; Sequist, Lecia V.; Piotrowska, Zofia; Wakelee, Heather A.; Neal, Joel W.; Alizadeh, Ash A.; Diehn, Maximilian
Circulating tumour DNA (ctDNA) analysis facilitates studies of tumour heterogeneity. Here we employ CAPP-Seq ctDNA analysis to study resistance mechanisms in 43 non-small cell lung cancer (NSCLC) patients treated with the third-generation epidermal growth factor receptor (EGFR) inhibitor rociletinib. We observe multiple resistance mechanisms in 46% of patients after treatment with first-line inhibitors, indicating frequent intra-patient heterogeneity. Rociletinib resistance recurrently involves MET, EGFR, PIK3CA, ERRB2, KRAS and RB1. We describe a novel EGFR L798I mutation and find that EGFR C797S, which arises in ∼33% of patients after osimertinib treatment, occurs in <3% after rociletinib. Increased MET copy number is the most frequent rociletinib resistance mechanism in this cohort and patients with multiple pre-existing mechanisms (T790M and MET) experience inferior responses. Similarly, rociletinib-resistant xenografts develop MET amplification that can be overcome with the MET inhibitor crizotinib. These results underscore the importance of tumour heterogeneity in NSCLC and the utility of ctDNA-based resistance mechanism assessment. PMID:27283993
Pype, Peter; Wens, Johan; Stes, Ann; Grypdonck, Maria; Eynden, Bart Vanden; Deveugele, Myriam
Working and learning go hand in hand during interprofessional collaborative practice. Patients' nursing records are designed to record patient care and health status. It is not known whether these records are also used to keep track of interprofessional contacts or interprofessional learning between team members. This study explored the usefulness of patients' nursing records in optimising interprofessional workplace learning for general practitioners. We utilized a descriptive retrospective chart review. All palliative home care teams of the Dutch speaking part of Belgium were involved. Throughout the year 2010, a representative sample of patient charts was selected. Characteristics of encounters between general practitioners and palliative care nurses were extracted from the charts. Detailed accounts of interprofessional contacts were found in the charts. Palliative care nurses recorded number and type of contacts, topics discussed during contacts and general practitioner's learning activities. Palliative care nurses are sensitive and open towards the general practitioners' learning needs. Patients' nursing records provide useful information for interprofessional team discussions on workplace learning. Healthcare professionals should be trained to respond to each other's learning needs.
Qiu, Yunping; Zhou, Bingsen; Su, Mingming; Baxter, Sarah; Zheng, Xiaojiao; Zhao, Xueqing; Yen, Yun; Jia, Wei
Breast cancer accounts for the largest number of newly diagnosed cases in female cancer patients. Although mammography is a powerful screening tool, about 20% of breast cancer cases cannot be detected by this method. New diagnostic biomarkers for breast cancer are necessary. Here, we used a mass spectrometry-based quantitative metabolomics method to analyze plasma samples from 55 breast cancer patients and 25 healthy controls. A number of 30 patients and 20 age-matched healthy controls were used as a training dataset to establish a diagnostic model and to identify potential biomarkers. The remaining samples were used as a validation dataset to evaluate the predictive accuracy for the established model. Distinct separation was obtained from an orthogonal partial least squares-discriminant analysis (OPLS-DA) model with good prediction accuracy. Based on this analysis, 39 differentiating metabolites were identified, including significantly lower levels of lysophosphatidylcholines and higher levels of sphingomyelins in the plasma samples obtained from breast cancer patients compared with healthy controls. Using logical regression, a diagnostic equation based on three metabolites (lysoPC a C16:0, PC ae C42:5 and PC aa C34:2) successfully differentiated breast cancer patients from healthy controls, with a sensitivity of 98.1% and a specificity of 96.0%.
Gallagher, Anne; Grant, Ellen P.; Madan, Neel; Jarrett, Delma Y.; Lyczkowski, David A.
Cortical tubers are very common in tuberous sclerosis complex (TSC) and widely vary in size, appearance and location. The relationship between tuber features and clinical phenotype is unclear. The aim of the study is to propose a classification of tuber types along a spectrum of severity, using magnetic resonance imaging (MRI) characteristics in 35 patients with TSC and history of epilepsy, and to investigate the relationship between tuber types and genetics, as well as clinical manifestations. Three types of tubers were identified based on the MRI signal intensity of their subcortical white matter component. (1) Tubers Type A are isointense on volumetric T1 images and subtly hyperintense on T2 weighted and fluid-attenuated inversion recovery (FLAIR); (2) Type B are hypointense on volumetric T1 images and homogeneously hyperintense on T2 weighted and FLAIR; (3) Type C are hypointense on volumetric T1 images, hyperintense on T2 weighted, and heterogeneous on FLAIR characterized by a hypointense central region surrounded by a hyperintense rim. Based on the dominant tuber type present, three distinct patient groups were also identified: Patients with Type A tuber dominance have a milder phenotype. Patients with Type C tuber dominance have more MRI abnormalities such as subependymal giant cell tumors, and were more likely to have an autism spectrum disorder, a history of infantile spasms, and a higher frequency of epileptic seizures, compared to patients who have a dominance in Type B tubers, and especially to those with a Type A dominance. PMID:20352250
Quantitative and qualitative aspects of the social network in schizophrenic patients living in the community. Relationship to sociodemographic characteristics and clinical factors and subjective quality of life.
Bengtsson-Tops, A; Hansson, L
Quantitative and qualitative aspects of the social network were investigated in a sample of 120 schizophrenic out-patients. Sociodemographic and clinical factors as well as subjective quality of life were investigated as to their relationship to the social network. The Interview Schedule for Social Integration (ISSI) was used to assess social network and Lancashire Quality of Life Profile was used to assess subjective quality of life. Psychopathology was measured by BPRS and psychosocial functioning by GAF. The patients reported a significantly worse social network compared to a normal sample both regarding quantitative and qualitative aspects of the network. Almost half of the patients wanted access to more social contacts. Relatives and friends turned out to be the patient's main source of supportive contacts. More severe negative and positive symptoms were related to a worse social network. Support was found for an association between characteristics of the social network, such as satisfaction with social contacts, and quality of life. The results give reason to suggest that the care system should consider the informal caregivers' situation and focus on interventions, which enhance the patient's satisfaction with social contacts.
Wang, Rui; Stone, Rebecca L; Kaelber, Jason T; Rochat, Ryan H; Nick, Alpa M; Vijayan, K Vinod; Afshar-Kharghan, Vahid; Schmid, Michael F; Dong, Jing-Fei; Sood, Anil K; Chiu, Wah
Thrombocytosis and platelet hyperreactivity are known to be associated with malignancy; however, there have been no ultrastructure studies of platelets from patients with ovarian cancer. Here, we used electron cryotomography (cryo-ET) to examine frozen-hydrated platelets from patients with invasive ovarian cancer (n = 12) and control subjects either with benign adnexal mass (n = 5) or free from disease (n = 6). Qualitative inspections of the tomograms indicate significant morphological differences between the cancer and control platelets, including disruption of the microtubule marginal band. Quantitative analysis of subcellular features in 120 platelet electron tomograms from these two groups showed statistically significant differences in mitochondria, as well as microtubules. These structural variations in the platelets from the patients with cancer may be correlated with the altered platelet functions associated with malignancy. Cryo-ET of platelets shows potential as a noninvasive biomarker technology for ovarian cancer and other platelet-related diseases.
D'Argenio, Valeria; Casaburi, Giorgio; Precone, Vincenza; Pagliuca, Chiara; Colicchio, Roberta; Sarnataro, Daniela; Discepolo, Valentina; Kim, Sangman M; Russo, Ilaria; Del Vecchio Blanco, Giovanna; Horner, David S; Chiara, Matteo; Pesole, Graziano; Salvatore, Paola; Monteleone, Giovanni; Ciacci, Carolina; Caporaso, Gregory J; Jabrì, Bana; Salvatore, Francesco; Sacchetti, Lucia
OBJECTIVES: Celiac disease (CD)-associated duodenal dysbiosis has not yet been clearly defined, and the mechanisms by which CD-associated dysbiosis could concur to CD development or exacerbation are unknown. In this study, we analyzed the duodenal microbiome of CD patients. METHODS: The microbiome was evaluated in duodenal biopsy samples of 20 adult patients with active CD, 6 CD patients on a gluten-free diet, and 15 controls by DNA sequencing of 16S ribosomal RNA libraries. Bacterial species were cultured, isolated and identified by mass spectrometry. Isolated bacterial species were used to infect CaCo-2 cells, and to stimulate normal duodenal explants and cultured human and murine dendritic cells (DCs). Inflammatory markers and cytokines were evaluated by immunofluorescence and ELISA, respectively. RESULTS: Proteobacteria was the most abundant and Firmicutes and Actinobacteria the least abundant phyla in the microbiome profiles of active CD patients. Members of the Neisseria genus (Betaproteobacteria class) were significantly more abundant in active CD patients than in the other two groups (P=0.03). Neisseria flavescens (CD-Nf) was the most abundant Neisseria species in active CD duodenum. Whole-genome sequencing of CD-Nf and control-Nf showed genetic diversity of the iron acquisition systems and of some hemoglobin-related genes. CD-Nf was able to escape the lysosomal compartment in CaCo-2 cells and to induce an inflammatory response in DCs and in ex-vivo mucosal explants. CONCLUSIONS: Marked dysbiosis and an abundance of a peculiar CD-Nf strain characterize the duodenal microbiome in active CD patients thus suggesting that the CD-associated microbiota could contribute to the many inflammatory signals in this disorder. PMID:27045926
Igala, Marielle; Nsame, Daniela; Ova, Jennie Dorothée Guelongo Okouango; Cherkaoui, Siham; Oukkach, Bouchra; Quessar, Asmae
Sickle cell anemia results from a single amino acid substitution in the gene encoding the β-globin subunit. Polymerization of deoxygenated sickle hemoglobin leads to decreased deformability of red blood cells. Hashimoto's thyroiditis is a common thyroid disease now recognized as an auto-immune thyroid disorder, it is usually thought to be haemolytic autoimmune anemia. We report the case of a 32 years old women admitted for chest pain and haemolysis anemia in which Hashimoto's thyroiditis and sickle cell anemia were found. In our observation the patient is a young woman whose examination did not show signs of goitre but the analysis of thyroid function tests performed before an auto-immune hemolytic anemia (confirmed by a high level of unconjugated bilirubin and a Coombs test positive for IgG) has found thyroid stimulating hormone (TSH) and positive thyroid antibody at rates in excess of 4.5 times their normal value. In the same period, as the hemolytic anemia, and before the atypical chest pain and anguish they generated in the patient, the search for hemoglobinopathies was made despite the absence of a family history of haematological disease or painful attacks in childhood. Patient electrophoresis's led to research similar cases in the family. The mother was the first to be analyzed with ultimately diagnosed with sickle cell trait have previously been ignored. This case would be a form with few symptoms because the patient does not describe painful crises in childhood or adolescence.
Garone, Caterina; Bordoni, Andreina; Gutierrez Rios, Purificacion; Calvo, Sarah E.; Ripolone, Michela; Ranieri, Michela; Rizzuti, Mafalda; Villa, Luisa; Magri, Francesca; Corti, Stefania; Bresolin, Nereo; Mootha, Vamsi K.; Moggio, Maurizio; DiMauro, Salvatore; Comi, Giacomo P.; Sciacco, Monica
The molecular diagnosis of mitochondrial disorders still remains elusive in a large proportion of patients, but advances in next generation sequencing are significantly improving our chances to detect mutations even in sporadic patients. Syndromes associated with mitochondrial DNA multiple deletions are caused by different molecular defects resulting in a wide spectrum of predominantly adult-onset clinical presentations, ranging from progressive external ophthalmoplegia to multi-systemic disorders of variable severity. The mutations underlying these conditions remain undisclosed in half of the affected subjects. We applied next-generation sequencing of known mitochondrial targets (MitoExome) to probands presenting with adult-onset mitochondrial myopathy and harbouring mitochondrial DNA multiple deletions in skeletal muscle. We identified autosomal recessive mutations in the DGUOK gene (encoding mitochondrial deoxyguanosine kinase), which has previously been associated with an infantile hepatocerebral form of mitochondrial DNA depletion. Mutations in DGUOK occurred in five independent subjects, representing 5.6% of our cohort of patients with mitochondrial DNA multiple deletions, and impaired both muscle DGUOK activity and protein stability. Clinical presentations were variable, including mitochondrial myopathy with or without progressive external ophthalmoplegia, recurrent rhabdomyolysis in a young female who had received a liver transplant at 9 months of age and adult-onset lower motor neuron syndrome with mild cognitive impairment. These findings reinforce the concept that mutations in genes involved in deoxyribonucleotide metabolism can cause diverse clinical phenotypes and suggest that DGUOK should be screened in patients harbouring mitochondrial DNA deletions in skeletal muscle. PMID:23043144
Schneider, Raimund; Schulte, Dietmar
In the present study, a modified semantic priming paradigm was used to test whether panic patients more strongly associate catastrophes with anxiety symptoms than nonclinical subjects. Subjects named catastrophic target words (e.g. infarction) and target words neutral to anxiety themes (e.g. weekend) that followed auditive prime sentences immediately (i.e.0ms) or with a delay (i.e. 1500ms). Prime sentences described the perception of anxiety symptoms (e.g. You feel tense) or sensations neutral to anxiety (You feel relaxed). Consistent with an earlier study [Schniering C.A., & Rapee, R.M. (1997). A test of the cognitive model of panic: Primed lexical decision in panic disorder. Journal of Anxiety Disorders, 11, 557-571] the two groups did not differ if semantic priming effects were calculated in the usual way, i.e. by averaging across identical stimuli for all subjects. As expected, however, panic patients demonstrated stronger semantic priming effects for catastrophes immediately following prime sentences if priming effects were calculated for idiographically selected stimuli. The latter result indicated stronger automatic associations between idiographic anxiety symptoms and catastrophes in panic patients consistent with the cognitive model of panic disorder (Clark, D.M. (1986). A cognitive approach to panic. Behaviour Research and Therapy, 24, 461-470). The restriction of stronger associations in panic patients to idiographic stimuli is explained from an evolutionary perspective.
Thusu, S; Panesar, S; Bedi, R
Modern dentistry has become increasingly invasive and sophisticated. Consequently the risk to the patient has increased. The aim of this study is to investigate the types of patient safety incidents (PSIs) that occur in dentistry and the accuracy of the National Patient Safety Agency (NPSA) database in identifying those attributed to dentistry. The database was analysed for all incidents of iatrogenic harm in the speciality of dentistry. A snapshot view using the timeframe January to December 2009 was used. The free text elements from the database were analysed thematically and reclassified according to the nature of the PSI. Descriptive statistics were provided. Two thousand and twelve incident reports were analysed and organised into ten categories. The commonest was due to clerical errors - 36%. Five areas of PSI were further analysed: injury (10%), medical emergency (6%), inhalation/ingestion (4%), adverse reaction (4%) and wrong site extraction (2%). There is generally low reporting of PSIs within the dental specialities. This may be attributed to the voluntary nature of reporting and the reluctance of dental practitioners to disclose incidences for fear of loss of earnings. A significant amount of iatrogenic harm occurs not during treatment but through controllable pre- and post-procedural checks. Incidences of iatrogenic harm to dental patients do occur but their reporting is not widely used. The use of a dental specific reporting system would aid in minimising iatrogenic harm and adhere to the Care Quality Commission (CQC) compliance monitoring system on essential standards of quality and safety in dental practices.
Staubach, Simon; Pekmez, Murat; Hanisch, Franz-Georg
Classical galactosemia is caused by a nearly complete deficiency of galactose-1-phosphate uridyltransferase (GALT; EC 2.7.712), resulting in a severely impaired galactose metabolism with galactose-1-phosphate and galactitol accumulation. Even on a galactose-restricted diet, patients develop serious long-term complications of the central nervous system and ovaries that may result from chronic cell-toxic effects exerted by endogenous galactose. To address the question of whether disease-associated cellular perturbations could affect the kidney function of the patients, we performed differential proteomics of detergent-resistant membranes from urinary exovesicles. Galactosemic samples (showing drastic shifts from high-mannose to complex-type N-glycosylation on exosomal N-glycoproteins) and healthy, sex-matched controls were analyzed in quadruplex iTRAQ experiments performed in biological and technical replicates. Particularly in the female patient group, the most striking finding was a drastic increase of abundant serum (glyco)proteins, like albumin, leucine-rich α-2-glycoprotein, fetuin, immunoglobulins, prostaglandin H2 d-isomerase, and α-1-microglobulin protein (AMBP), pointing to a subclinical failure of kidney filter function in galactosemic patients and resulting in a heavy overload of exosomal membranes with adsorbed serum (glyco)proteins. Several of these proteins are connected to TBMN and IgAN, proteinuria, and renal damage. The impairment of renal protein filtration was also indicated by increased protein contents derived from extracellular matrices and lysosomes.
Simpson, Jennifer A; Lovecky, Debra; Kogan, Jane; Vetter, Louise A; Yohrling, George J
In preparation for a meeting with the U.S. Food and Drug Administration (FDA) on Patient-Focused Drug Development in Huntington's disease, the Huntington's Disease Society of America (HDSA) created and distributed two comprehensive surveys on the symptom experience and treatment approaches for Huntington's disease. The objective of these surveys was to identify the specific symptoms that most impact the daily lives of individuals with Huntington's disease/Juvenile Huntington's disease (HD/JHD) and their caregivers and to solicit input on the types of treatments desired by HD affected families. The data were shared with the FDA to offer background and insight in preparation for the patient-focused meeting, as well as to ensure representation by the community in a manner that would complement those who attended in person. Two distinct surveys were created using SurveyMonkey to capture patient and caregiver perspectives on HD symptoms and current treatments. HDSA distributed the surveys to the HD community in August and September 2014 and collected responses through January 2015. More than 3,600 responses to the two surveys were received. The data showed that both caregivers and individuals with HD were severely impacted by the cognitive and behavioral symptoms of HD with HD patients reporting problems with executive functioning and cognitive decline as most impactful to them. However, 30 percent of caregivers reported that chorea was the most impactful symptom compared to 17 percent of people with HD. Across all the symptom categories, patients reported a lower occurrence of symptoms than were reported by their caregivers. With only one drug approved for treatment of a symptom of Huntington's disease and no disease modifying treatments available, there is a critical need for new medicines to treat the cognitive, psychiatric and motor symptoms associated with HD. While the surveys did not capture risk/benefit data, the data collected do provide new insights around the
Wilson, P.J.; Short, M.P.; Bove, C.
Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by hamartomas and hamartias in many organs including brain, skin, heart and kidneys. Two TSC genes have been localized through linkage analysis, TSC1 to 9q34 and TSC2 to 16p13.3. TSC2 was recently cloned. The distribution of sporadic TSC patients between TSC1 and TSC2 is at present unknown, but tests of genetic heterogeneity in families suggest that each is equally represented. Genetic heterogeneity may account for some of the variation in clinical expression; however, there is no evidence at present to support differences in clinical phenotypes between the 2 genetic loci. With the isolation of the TSC2 gene we have commenced mutation studies of our familial and sporadic TSC patients. Thus far six chromosome 16-linked families have been screened with the TSC2 cDNA and no detectable changes were observed using Southern analysis. In addition, 85 sporadic TSC patients were analyzed by Southern analysis. Using multiple restriction digests, nine patients revealed altered patterns, including three patients that appeared to have complete deletions. RT-PCR was performed on these patients confirming that the TSC2 gene was deleted. However, the remaining patients showed normal patterns, indicating that they either have TSC1 mutations or they possess more subtle small deletions or point mutations. At present we are designing an SSCP-based approach to determine the nature of the mutations in our 16 linked TSC families.
Zhang, Ying; Hu, Xu; Zhang, Chao; Zhou, Yue; Chu, Tong-Wei
Ankylosing spondylitis (AS) is a severe chronic inflammatory disease that may ultimately result in the development of a 'bamboo‑like' spine. Although the pathological changes that occur in AS have been extensively investigated, the mechanism underlying spinal fusion during AS remains elusive. Differentially expressed genes (DEGs) in paraspinal tissues from patients with AS compared with those from healthy controls were therefore investigated. Polymerase chain reaction (PCR)‑based suppression subtractive hybridization was performed using total mRNA from the supraspinal ligaments of three patients with AS and three patients with spinal fractures as controls. From this, 27 genes were identified in all of the three independent forward libraries, which were defined as DEGs associated with AS. Reverse transcription‑quantitative PCR demonstrated that six DEGs were overexpressed in the tissues from patients with AS compared with those from individuals in the control group, including those encoding transforming growth factor β types I and III receptor, vascular endothelial growth factor, matrix metalloproteinase‑3, core‑binding factor α1 and bone morphogenetic protein 2. Western blot analysis showed increased expression in all six of these proteins in the samples from patients with AS compared with those in the control groups. These findings suggested that changes in the expression of these genes and proteins are associated with the development of spinal fusion during the pathogenesis of AS. Furthermore, these genes may be novel markers of the risk of developing AS, in addition to being targets for the treatment of this disease.
Klamer, Silke; Milian, Monika; Erb, Michael; Rona, Sabine; Lerche, Holger; Ethofer, Thomas
We aimed to identify reorganization processes of episodic memory networks in patients with left and right temporal lobe epilepsy (TLE) due to hippocampal sclerosis as well as their relations to neuropsychological memory performance. We investigated 28 healthy subjects, 12 patients with left TLE (LTLE) and 9 patients with right TLE (RTLE) with hippocampal sclerosis by means of functional magnetic resonance imaging (fMRI) using a face-name association task, which combines verbal and non-verbal memory functions. Regions-of-interest (ROIs) were defined based on the group results of the healthy subjects. In each ROI, fMRI activations were compared across groups and correlated with verbal and non-verbal memory scores. The face-name association task yielded activations in bilateral hippocampus (HC), left inferior frontal gyrus (IFG), left superior frontal gyrus (SFG), left superior temporal gyrus, bilateral angular gyrus (AG), bilateral medial prefrontal cortex and right anterior temporal lobe (ATL). LTLE patients demonstrated significantly less activation in the left HC and left SFG, whereas RTLE patients showed significantly less activation in the HC bilaterally, the left SFG and right AG. Verbal memory scores correlated with activations in the left and right HC, left SFG and right ATL and non-verbal memory scores with fMRI activations in the left and right HC and left SFG. The face-name association task can be employed to examine functional alterations of hippocampal activation during encoding of both verbal and non-verbal material in one fMRI paradigm. Further, the left SFG seems to be a convergence region for encoding of verbal and non-verbal material.
Brookes, Gavin; Baker, Paul
Objective To examine the key themes of positive and negative feedback in patients’ online feedback on NHS (National Health Service) services in England and to understand the specific issues within these themes and how they drive positive and negative evaluation. Design Computer-assisted quantitative and qualitative studies of 228 113 comments (28 971 142 words) of online feedback posted to the NHS Choices website. Comments containing the most frequent positive and negative evaluative words are qualitatively examined to determine the key drivers of positive and negative feedback. Participants Contributors posting comments about the NHS between March 2013 and September 2015. Results Overall, NHS services were evaluated positively approximately three times more often than negatively. The four key areas of focus were: treatment, communication, interpersonal skills and system/organisation. Treatment exhibited the highest proportion of positive evaluative comments (87%), followed by communication (77%), interpersonal skills (44%) and, finally, system/organisation (41%). Qualitative analysis revealed that reference to staff interpersonal skills featured prominently, even in comments relating to treatment and system/organisational issues. Positive feedback was elicited in cases of staff being caring, compassionate and knowing patients’’ names, while rudeness, apathy and not listening were frequent drivers of negative feedback. Conclusions Although technical competence constitutes an undoubtedly fundamental aspect of healthcare provision, staff members were much more likely to be evaluated both positively and negatively according to their interpersonal skills. Therefore, the findings reported in this study highlight the salience of such ‘soft’ skills to patients and emphasise the need for these to be focused upon and developed in staff training programmes, as well as ensuring that decisions around NHS funding do not result in demotivated and rushed staff. The
Büssing, Arndt; Hirdes, Almut Tabea; Baumann, Klaus; Hvidt, Niels Christian; Heusser, Peter
We intended to analyse which aspects of spirituality are of relevance for medical doctors in a mostly secular society and how their spiritual/religious attitudes are related to specific views of illness, their dealing with patients' individual situation, and finally physicians' life satisfaction. Data from an anonymous survey enrolling 237 medical doctors from Germany (mean age 45.7 ± 9.6, 58% male, 42% female) indicated that secular forms of spirituality scored highest, while specific religious orientation had the lowest scores. Physicians with a specific specialization in complementary/alternative medicine (CAM) or anthroposophic medicine differed from their conventional counterparts with respect to specific aspects of spirituality; however, the specific views associated with these specialisations were only weakly to moderately correlated with physicians' view on the meaning of illness and how they assume that they would deal with their patients' individual situation. Of interest, the specific aspects of spirituality were negatively correlated with the view of “illness as a meaningless interruption” of life, indicating that physicians with a spiritual attitude would see illness also as a chance for an “individual development” and associated with a “biographical meaning” rather than just a “useless interruption” of life. PMID:23956779
Bloomfield, Jacqueline; Pegram, Anne
Organisational aspects of care, the second essential skills cluster, identifies the need for registered nurses to systematically assess, plan and provide holistic patient care in accordance with individual needs. Safeguarding, supporting and protecting adults and children in vulnerable situations; leading, co-ordinating and managing care; functioning as an effective and confident member of the multidisciplinary team; and managing risk while maintaining a safe environment for patients and colleagues, are vital aspects of this cluster. This article discusses the roles and responsibilities of the newly registered graduate nurse. Throughout their education, nursing students work towards attaining this knowledge and these skills in preparation for their future roles as nurses.
Dyckhoff, Gerhard; Plinkert, Peter K; Ramroth, Heribert
Larynx preservation (LP) is recommended for up to low-volume T4 laryngeal cancer as an evidence-based treatment option that does not compromise survival. However, a reevaluation of the current literature raises questions regarding whether there is indeed reliable evidence to support larynx preservation for T4 tumor patients. In an observational cohort study of 810 laryngeal cancer patients, we evaluated the outcomes of all T4 tumor patients treated with primary chemo-radiotherapy (CRT) or primary radiotherapy alone (RT) compared with upfront total laryngectomy followed by adjuvant (chemo)radiotherapy (TL + a[C]RT). Additionally, we reevaluated the studies that form the evidence base for the recommendation of LP for patients with up to T4 tumors (Pfister et al., J Clin Oncol 24:3693-704, 2006). The evaluation of all 288 stage III and IV patients together did not show a significant difference in overall survival (OS) between CRT-LP and TL + a(C)RT (hazard ratio (HR) 1.23; 95% confidence interval (CI): 0.82-1.86; p = 0.31) using a multivariate proportional hazard model. However, a subgroup analysis of T4 tumor patients alone (N = 107; 13.9%) revealed significantly worse OS after CRT compared with TL + a(C)RT (HR 2.0; 95% CI: 1.04-3.7; p = 0.0369). A reevaluation of the subgroup of T4 patients in the 5 LP studies that led to the ASCO clinical practice guidelines revealed that only 21-45 T4 patients had differential data on survival outcome. These data, however, showed a markedly worse outcome for T4 patients after LP. T4 laryngeal cancer patients who reject TL as a treatment option should be informed that their chance of organ preservation with primary conservative treatment is likely to result in a significantly worse outcome in terms of OS. Significant loss of survival in T4 patients after LP is also confirmed in recent literature.
Oya, Maiko; Takahashi, Toshiaki; Tanabe, Hidenori; Oe, Makoto; Murayama, Ryoko; Yabunaka, Koichi; Matsui, Yuko; Sanada, Hiromi
Infiltration is a frequent complication of infusion therapy. We previously demonstrated the usefulness of infrared thermography as an objective method of detecting infiltration in healthy people. However, whether thermography can detect infiltration in clinical settings remains unknown. Therefore, we report two cases where thermography was useful in detecting infiltration at puncture sites. In both cases, tissue changes were verified ultrasonographically. The patients were a 56-year-old male with cholangitis and a 76-year-old female with hepatoma. In both cases, infiltration symptoms such as swelling and erythema occurred one day after the insertion of a peripheral intravenous catheter. Thermographic images from both patients revealed low-temperature areas spreading from the puncture sites; however, these changes were not observed in other patients. The temperature difference between the low-temperature areas and their surrounding skin surface exceeded 1.0°C. Concurrently, ultrasound images revealed that tissues surrounding the vein had a cobblestone appearance, indicating edema. In both patients, subcutaneous tissue changes suggested infiltration and both had low-temperature areas spreading from the puncture sites. Thus, subcutaneous edema may indicate infusion leakage, resulting in a decrease in the temperature of the associated skin surface. These cases suggest that infrared thermography is an effective method of objectively and noninvasively detecting infiltration.
Doroftei, Nicoleta Alina; de Rudder, Catherine; de Visscher, Nathalie; Hanon, Francois
Hyponatremia due to isolated adrenocorticotropic hormone (ACTH) deficiency is difficult to diagnose as it is usually indistinguishable from non-endocrine syndrome of inappropriate antidiuretic hormone secretion (SIADH). We present a case secondary to empty sella. Most patients with empty sella remain asymptomatic throughout life and require no treatment; however, in cases involving the development of isolated ACTH deficiency, corticosteroid treatment should be enforced to avoid fatal consequences.
Fu, Haiyan; Meadows, Aaron S; Pineda, Ricardo J; Mohney, Robert P; Stirdivant, Steve; McCarty, Douglas M
The monogenic defects in specific lysosomal enzymes in mucopolysaccharidosis (MPS) III lead to lysosomal storage of glycosaminoglycans and complex CNS and somatic pathology, for which the detailed mechanisms remain unclear. In this study, serum samples from patients with MPS IIIA (age 2-9 yr) and MPS IIIB (2-13 yr) and healthy controls (age 2-9 yr) were assayed by global metabolomics profiling of 658 metabolites using mass spectrometry. Significant alterations were detected in 423 metabolites in all MPS III patients, of which 366 (86.5%) decreased and 57 (13.5%) increased. Similar profiles were observed when analyzing data from MPS IIIA and MPS IIIB samples separately, with only limited age variations in 36 metabolites. The observed metabolic disturbances in MPS III patients involve virtually all major pathways of amino acid (101/150), peptide (17/21), carbohydrate (19/23), lipid (221/325), nucleotide (15/25), energy (8/9), vitamins and co-factors (8/21), and xenobiotics (34/84) metabolism. Notably, detected serum metabolite decreases involved all key amino acids, all major neurotransmitter pathways, and broad neuroprotective compounds. The elevated metabolites are predominantly lipid derivatives, and also include cysteine metabolites and a fibrinogen peptide fragment, consistent with the status of oxidative stress and inflammation in MPS III. This study demonstrates that the lysosomal glycosaminoglycans storage triggers profound metabolic disturbances in patients with MPS III disorders, leading to severe functional depression of virtually all metabolic pathways, which emerge early during the disease progression. Serum global metabolomics profiling may provide an important and minimally invasive tool for better understanding the disease mechanisms and identification of potential biomarkers for MPS III.
Cassol, Edana; Misra, Vikas; Dutta, Anupriya; Morgello, Susan; Gabuzda, Dana
Objective(s): HIV-associated neurocognitive disorders (HAND) remain prevalent in HIV-infected patients on antiretroviral therapy (ART), but the underlying mechanisms are unclear. Some features of HAND resemble those of age-associated cognitive decline in the absence of HIV, suggesting that overlapping mechanisms may contribute to neurocognitive impairment. Design: Cross-sectional analysis of cerebrospinal fluid (CSF) from 100 individuals (46 HIV-positive patients and 54 HIV-negative controls). Methods: Untargeted CSF metabolite profiling was performed using liquid/gas chromatography followed by mass spectrometry. Cytokine profiling was performed by Bioplex. Bioinformatic analyses were performed in Metaboanalyst and R. Results: Alterations in the CSF metabolome of HIV patients on ART mapped to pathways associated with neurotransmitter production, mitochondrial function, oxidative stress, and metabolic waste. Many CSF metabolites altered in HIV overlapped with those altered with advanced age in HIV-negative controls, suggesting a pattern indicative of accelerated aging. Machine learning models identified neurotransmitters (glutamate, N-acetylaspartate), markers of glial activation (myo-inositol), and ketone bodies (beta-hydroxybutyric acid, 1,2-propanediol) as top-ranked classifiers of HAND. These CSF metabolites correlated with worse neurocognitive test scores, plasma inflammatory biomarkers [interferon (IFN)-α, IFN-γ, interleukin (IL)-8, IL-1β, IL-6, IL-2Ra], and intrathecal IFN responses (IFN-γ and kynurenine : tryptophan ratio), suggesting inter-relationships between systemic and intrathecal inflammation and metabolic alterations in CSF. Conclusions: Alterations in the CSF metabolome of HIV patients on ART suggest that persistent inflammation, glial responses, glutamate neurotoxicity, and altered brain waste disposal systems contribute to mechanisms involved in HAND that may be augmented with aging. PMID:24752083
Yan, Chao; Lu, Jing; Li, Xuzhou; Tang, Chaozheng; Fan, Mingxia; Luo, Yanli
Persistent somatoform pain disorder (PSPD) is a mental disorder un-associated with any somatic injury and can cause severe somatosensory and emotional impairments in patients. However, so far, the neuro-pathophysiological mechanism of the functional impairments in PSPD is still unclear. The present study assesses the difference in regional spontaneous activity between PSPD and healthy controls (HC) during a resting state, in order to elucidate the neural mechanisms underlying PSPD. Resting-state functional Magnetic Resonance Imaging data were obtained from 13 PSPD patients and 23 age- and gender-matched HC subjects in this study. Kendall’s coefficient of concordance was used to measure regional homogeneity (ReHo), and a two-sample t-test was subsequently performed to investigate the ReHo difference between PSPD and HC. Additionally, the correlations between the mean ReHo of each survived area and the clinical assessments were further analyzed. Compared with the HC group, patients with PSPD exhibited decreased ReHo in the bilateral primary somatosensory cortex, posterior cerebellum, and occipital lobe, while increased ReHo in the prefrontal cortex (PFC) and default mode network (including the medial PFC, right inferior parietal lobe (IPL), and left supramarginal gyrus). In addition, significant positive correlations were found between the mean ReHo of both right IPL and left supramarginal gyrus and participants’ Self-Rating Anxiety Scale (SAS) scores, and between the mean ReHo of the left middle frontal gyrus and Visual Analogue Scale (VAS) scores. Our results suggest that abnormal spontaneous brain activity in specific brain regions during a resting state may be associated with the dysfunctions in pain, memory and emotional processing commonly observed in patients with PSPD. These findings help us to understand the neural mechanisms underlying PSPD and suggest that the ReHo metric could be used as a clinical marker for PSPD. PMID:26977802
Anger, Jennifer T.; Nissim, Helen A.; Le, Thuy X.; Smith, Ariana L.; Lee, Una; Sarkisian, Catherine; Litwin, Mark S.; Raz, Shlomo; Rodriguez, Larissa V.; Maliski, Sally L.
Aims Research has focused on treatment of overactive bladder (OAB) symptoms in women with the goal of cure. The objective of this study was to assess women’s perceptions of their OAB symptoms, treatment experience, and outcomes by conducting patient focus groups. Methods Women seen in our academic center female urology referral clinics were identified by ICD-9 codes for OAB symptoms and recruited to participate in one of five focus groups, totaling 33 patients. Non-clinician moderators conducted the focus group sessions incorporating topics related to patients’ perceptions of OAB symptoms, treatments, and outcomes. Data analysis was performed using grounded theory methodology. Results Qualitative analysis yielded several preliminary themes: impact of OAB on quality of life, strategies to control wetness, medications and side effects, and triggers. The majority of focus group participants reported only a partial response to medication and other physician-recommended treatments for OAB. They therefore developed self-reliant personalized strategies to improve their quality of life. These strategies included fluid restriction, preventive toileting, and, most importantly, the use of incontinence pads. Conclusions The majority of the women who participated in the focus groups reported only a partial response to medical and other treatments for OAB. As a result, they developed personalized self-management strategies to improve their quality of life. Although most studies addressing the treatment of OAB aim at curing the condition, such a strategy may be unrealistic. Applying a chronic care model that uses a patient-centered symptom management approach to OAB may optimize patient outcomes and improve quality of life. PMID:21538495
Farhat, F.; Othman, A.; el Baba, G.; Kattan, J.
Background Disclosure of a cancer diagnosis to patients is a major problem for physicians in Lebanon. Our survey aimed to identify the attitudes of patients, families and friends, nurses, and physicians regarding disclosure of a cancer diagnosis. Methods Study participants included 343 physicians, nurses, cancer patients, families, and friends from clinics in two major hospitals in Lebanon. All completed a 29-item questionnaire that assessed, by demographic group, the information provided about cancer, opinions about the disclosure of the diagnosis to cancer patients, perceived consequences to patients, and the roles of family, friends, and religion. Results Overall, 7.8% of the patients were convinced that cancer is incurable. Nearly 82% preferred to be informed about their diagnosis. Similarly, 83% of physicians were in favour of disclosing a cancer diagnosis to their patients. However, only 14% of the physicians said that they revealed the truth to the patients themselves, with only 9% doing so immediately after confirmation of the diagnosis. Disclosure of a cancer diagnosis was preferred before the start of the treatment by 59% of the patients and immediately after confirmation of the diagnosis by 72% of the physicians. Overall, 86% of physicians, 51% of nurses, and 69% of patients and their families believed that religion helped with the acceptance of a cancer diagnosis. A role for family in accepting the diagnosis was reported by 74% of the patients, 56% of the nurses, and 88% of the physicians. All participants considered that fear was the most difficult feeling (63%) experienced by cancer patients, followed by pain (29%), pity (8%), and death (1%), with no statistically significant difference between the answers given by the participant groups. Conclusions The social background in Lebanese society is the main obstacle to revealing the truth to cancer patients. Lebanese patients seem to prefer direct communication of the truth, but families take the opposite
Lessel, Davor; Muhammad, Tariq; Casar Tena, Teresa; Moepps, Barbara; Burkhalter, Martin D.; Hitz, Marc-Phillip; Toka, Okan; Rentzsch, Axel; Schubert, Stephan; Schalinski, Adelheid; Bauer, Ulrike M. M.; Kubisch, Christian; Ware, Stephanie M.; Philipp, Melanie
G protein-coupled receptor kinase 5 (GRK5) is a regulator of cardiac performance and a potential therapeutic target in heart failure in the adult. Additionally, we have previously classified GRK5 as a determinant of left-right asymmetry and proper heart development using zebrafish. We thus aimed to identify GRK5 variants of functional significance by analysing 187 individuals with laterality defects (heterotaxy) that were associated with a congenital heart defect (CHD). Using Sanger sequencing we identified two moderately frequent variants in GRK5 with minor allele frequencies <10%, and seven very rare polymorphisms with minor allele frequencies <1%, two of which are novel variants. Given their evolutionarily conserved position in zebrafish, in-depth functional characterisation of four variants (p.Q41L, p.G298S, p.R304C and p.T425M) was performed. We tested the effects of these variants on normal subcellular localisation and the ability to desensitise receptor signalling as well as their ability to correct the left-right asymmetry defect upon Grk5l knockdown in zebrafish. While p.Q41L, p.R304C and p.T425M responded normally in the first two aspects, neither p.Q41L nor p.R304C were capable of rescuing the lateralisation phenotype. The fourth variant, p.G298S was identified as a complete loss-of-function variant in all assays and provides insight into the functions of GRK5. PMID:27618959
Sampieri, Katia; Hadjistilianou, Theodora; Mari, Francesca; Speciale, Caterina; Mencarelli, Maria Antonietta; Cetta, Francesco; Manoukian, Siranoush; Peissel, Bernard; Giachino, Daniela; Pasini, Barbara; Acquaviva, Antonio; Caporossi, Aldo; Frezzotti, Renato; Renieri, Alessandra; Bruttini, Mirella
Retinoblastoma (RB, OMIM#180200) is the most common intraocular tumour in infancy and early childhood. Constituent mutations in the RB1 gene predispose individuals to RB development. We performed a mutational screening of the RB1 gene in Italian patients affected by RB referred to the Medical Genetics of the University of Siena. In 35 unrelated patients, we identified germline RB1 mutations in 6 out of 9 familial cases (66%) and in 7 out of 26 with no family history of RB (27%). Using the single-strand conformational polymorphism (SSCP) technique, 11 novel mutations were detected, including 3 nonsense, 5 frameshift and 4 splice-site mutations. Only two of these mutations (1 splice site and 1 missense) were previously reported. The mutation spectrum reflects the published literature, encompassing predominately nonsense or frameshift and splicing mutations. RB1 germline mutation was detected in 37% of our cases. Gross rearrangements outside the investigated region, altered DNA methylation, or mutations in non-coding regions, may be the cause of disease in the remainder of the patients. Some cases, e.g. a case of incomplete penetrance, or variable expressivity ranging from retinoma to multiple tumours, are discussed in detail. In addition, a case of pre-conception genetic counselling resolved by rescue of banked cordonal blood of the affected deceased child is described.
Yi, Lunzhao; Shi, Shuting; Wang, Yang; Huang, Wei; Xia, Zi-an; Xing, Zhihua; Peng, Weijun; Wang, Zhe
Cognitive impairment, the leading cause of traumatic brain injury (TBI)-related disability, adversely affects the quality of life of TBI patients, and exacts a personal and economic cost that is difficult to quantify. The underlying pathophysiological mechanism is currently unknown, and an effective treatment of the disease has not yet been identified. This study aimed to advance our understanding of the mechanism of disease pathogenesis; thus, metabolomics based on gas chromatography/mass spectrometry (GC-MS), coupled with multivariate and univariate statistical methods were used to identify potential biomarkers and the associated metabolic pathways of post-TBI cognitive impairment. A biomarker panel consisting of nine serum metabolites (serine, pyroglutamic acid, phenylalanine, galactose, palmitic acid, arachidonic acid, linoleic acid, citric acid, and 2,3,4-trihydroxybutyrate) was identified to be able to discriminate between TBI patients with cognitive impairment, TBI patients without cognitive impairment and healthy controls. Furthermore, associations between these metabolite markers and the metabolism of amino acids, lipids and carbohydrates were identified. In conclusion, our study is the first to identify several serum metabolite markers and investigate the altered metabolic pathway that is associated with post-TBI cognitive impairment. These markers appear to be suitable for further investigation of the disease mechanisms of post-TBI cognitive impairment. PMID:26883691
Yi, Lunzhao; Shi, Shuting; Wang, Yang; Huang, Wei; Xia, Zi-an; Xing, Zhihua; Peng, Weijun; Wang, Zhe
Cognitive impairment, the leading cause of traumatic brain injury (TBI)-related disability, adversely affects the quality of life of TBI patients, and exacts a personal and economic cost that is difficult to quantify. The underlying pathophysiological mechanism is currently unknown, and an effective treatment of the disease has not yet been identified. This study aimed to advance our understanding of the mechanism of disease pathogenesis; thus, metabolomics based on gas chromatography/mass spectrometry (GC-MS), coupled with multivariate and univariate statistical methods were used to identify potential biomarkers and the associated metabolic pathways of post-TBI cognitive impairment. A biomarker panel consisting of nine serum metabolites (serine, pyroglutamic acid, phenylalanine, galactose, palmitic acid, arachidonic acid, linoleic acid, citric acid, and 2,3,4-trihydroxybutyrate) was identified to be able to discriminate between TBI patients with cognitive impairment, TBI patients without cognitive impairment and healthy controls. Furthermore, associations between these metabolite markers and the metabolism of amino acids, lipids and carbohydrates were identified. In conclusion, our study is the first to identify several serum metabolite markers and investigate the altered metabolic pathway that is associated with post-TBI cognitive impairment. These markers appear to be suitable for further investigation of the disease mechanisms of post-TBI cognitive impairment.
Balzano, Francesca; Deiana, Marta; Dei Giudici, Silvia; Oggiano, Annalisa; Pasella, Sara; Pinna, Sara; Mannu, Andrea; Deiana, Nicola; Porcu, Baingio; Masala, Antonio G E; Pileri, Piera V; Scognamillo, Fabrizio; Pala, Carlo; Zinellu, Angelo; Carru, Ciriaco; Deiana, Luca
Micro-RNA (miRNA) are a family of small non-coding ribonucleic acids that inhibits post-transcriptionally the expression of their target messenger RNA (mRNA). We are interested in studying the involvement of miRNA in longevity and autoimmune diseases. In this study we compared the different expression of seven microRNAs between human plasma healthy controls, plasma samples of centenarians and samples from patients with rheumatoid arthritis. We used the Life Technologies' protocol to quantify seven miRNAs from 62 plasma samples: 20 healthy human controls, 14 centenarians, 28 patients with rheumatoid arthritis. TaqMan MicroRNA assays were used to analyze the expression profiles of miR-125b-5p, miR-425-5p, miR-200b5p, miR-200c-3p, miR-579-3p, miR-212-3p, miR-21-5p and miR-126-3p. The relative expression of mature miRNAs was analyzed using software REST. Our results show that miR-425-5p, miR-21 and miR-212 significantly decreased in centenarians and in patients with rheumatoid arthritis compared with controls. Furthermore in this work we highlight a connection between corticosteroid treatment and miRNAs expression.
Nicaise, Alexandra M; Banda, Erin; Guzzo, Rosa M; Russomanno, Kristen; Castro-Borrero, Wanda; Willis, Cory M; Johnson, Kasey M; Lo, Albert C; Crocker, Stephen J
Primary progressive multiple sclerosis (PPMS) is a chronic demyelinating disease of the central nervous system (CNS) currently lacking any effective treatment. Promoting endogenous brain repair offers a potential strategy to halt and possibly restore neurologic function in PPMS. To understand how the microenvironment within white matter lesions plays a role in repair we have focused on neural progenitor cells (NPCs) since these are found in lesions in PPMS and have been found to influence oligodendrocyte progenitor cell maturation (OPCs). To better understand the cellular nature of NPCs in PPMS we developed iPS cells from blood samples of PPMS patients and age matched non-disease spouse or blood relative controls. Using these iPS cell lines we determined that the NPCs from PPMS cases provided no neuroprotection against active CNS demyelination compared to NPCs from control iPS lines which were capable of completely preventing injury. Conditioned media (CM) from PPMS NPCs provides no protection to OPCs and prevents maturation of OPCs into oligodendrocytes in vitro. We also found that CM from PPMS iPS NPCs elicited patient-specific differences in the response to compounds that should foster oligodendrocyte (OL) maturation. Together, these data establish a new model for understanding the nature of myelination defects in PPMS which may lead to novel targeted approaches for preventing demyelination in these patients. Copyright © 2016 Elsevier Inc. All rights reserved.
Strassner, James P; Rashighi, Mehdi; Ahmed Refat, Maggi; Richmond, Jillian M; Harris, John E
Vitiligo is an autoimmune disease of the skin with limited treatment options; there is an urgent need to identify and validate biomarkers of disease activity to support vitiligo clinical studies. To investigate potential biomarkers of disease activity directly in the skin of vitiligo subjects and healthy subjects. Patient skin was sampled via a modified suction-blister technique, allowing for minimally invasive, objective assessment of cytokines and T-cell infiltrates in the interstitial skin fluid. Potential biomarkers were first defined and later validated in separate study groups. In screening and validation, CD8(+) T-cell number and C-X-C motif chemokine ligand (CXCL) 9 protein concentration were significantly elevated in active lesional compared to nonlesional skin. CXCL9 protein concentration achieved greater sensitivity and specificity by receiver operating characteristic analysis. Suction blistering also allowed for phenotyping of the T-cell infiltrate, which overwhelmingly expresses C-X-C motif chemokine receptor 3. A small number of patients were enrolled for the study, and only a single patient was used to define the treatment response. Measuring CXCL9 directly in the skin might be effective in clinical trials as an early marker of treatment response. Additionally, use of the modified suction-blister technique supports investigation of inflammatory skin diseases using powerful tools like flow cytometry and protein quantification. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.
Introduction Polycythemia vera is a polyglobular myeloproliferative syndrome related to the mutation of multipotent hemopoietic stem cells. This case report describes a patient whose bladder tumor was associated with polycythemia vera and erectile dysfunction. The association of bladder neoplasia with polycythemia vera and erectile dysfunction has not previously been reported in the literature. Case presentation A 40-year-old Moroccan man was followed up for a bladder tumor which manifested with coagulant hematuria and a facial erythrosis with a hemoglobin level of 20.3g/L suggesting polycythemia vera. The patient also suffered from an erectile disorder. Considering the anesthesia difficulty due to polyglobulia, the patient was treated by bleeding. This treatment enabled the patient’s sexual performance to be improved and adjustment of his hemoglobin to a level allowing anesthesia, and hence surgical resection of his bladder tumor. Conclusion Erectile dysfunction associated with polycythemia vera is elucidated by rheological disorders. Bleeding contributed to satisfactory sexual performance and facilitated treatment of polycythemia vera because it enabled anesthesia to be performed and hence the surgical resection of the bladder tumor. PMID:23537044
Qiu, Xiangzhe; Zhang, Yanjun; Feng, Hongbo; Jiang, Donglang
Recent studies have demonstrated alterations in the topological organization of structural brain networks in diabetes mellitus (DM). However, the DM-related changes in the topological properties in functional brain networks are unexplored so far. We therefore used fluoro-D-glucose positron emission tomography (FDG-PET) data to construct functional brain networks of 73 DM patients and 91 sex- and age-matched normal controls (NCs), followed by a graph theoretical analysis. We found that both DM patients and NCs had a small-world topology in functional brain network. In comparison to the NC group, the DM group was found to have significantly lower small-world index, lower normalized clustering coefficients and higher normalized characteristic path length. Moreover, for diabetic patients, the nodal centrality was significantly reduced in the right rectus, the right cuneus, the left middle occipital gyrus, and the left postcentral gyrus, and it was significantly increased in the orbitofrontal region of the left middle frontal gyrus, the left olfactory region, and the right paracentral lobule. Our results demonstrated that the diabetic brain was associated with disrupted topological organization in the functional PET network, thus providing functional evidence for the abnormalities of brain networks in DM. PMID:27303259
Kamradt, Martina; Krisam, Johannes; Kiel, Marion; Qreini, Markus; Besier, Werner; Szecsenyi, Joachim; Ose, Dominik
Knowledge about predictors of health-related quality of life for multimorbid patients with type 2 diabetes mellitus in primary care could help to improve quality and patient-centeredness of care in this specific group of patients. Thus, the aim of this study was to investigate the impact of several patient characteristics on health-related quality of life of multimorbid patients with type 2 diabetes mellitus in a community setting. A cross-sectional study with 32 primary care practice teams in Mannheim, Germany, and randomly selected multimorbid patients with type 2 diabetes mellitus (N = 495) was conducted. In order to analyze associations of various patient characteristics with health-related quality of life (EQ-5D index) a multilevel analysis was applied. After excluding patients with missing data, the cohort consisted of 404 eligible patients. The final multilevel model highlighted six out of 14 explanatory patient variables which were significantly associated with health-related quality of life: female gender (r = -0.0494; p = .0261), school education of nine years or less (r = -0.0609; p = .0006), (physical) mobility restrictions (r = -0.1074; p = .0003), presence of chronic pain (r = -0.0916; p = .0004), diabetes-related distress (r = -0.0133; p < .0001), and BMI (r = -0.0047; p = .0045). The findings of this study suggest that increased diabetes-related distress, chronic pain, restrictions in (physical) mobility, female gender, as well as lower education and, increased BMI have a noteworthy impact on health-related quality of life in multimorbid patients with type 2 diabetes mellitus seen in primary care practices in a community setting. The highlighted aspects should gain much more attention when treating multimorbid patients with type 2 diabetes mellitus.
Krisam, Johannes; Kiel, Marion; Qreini, Markus; Besier, Werner; Szecsenyi, Joachim; Ose, Dominik
Background and Objective Knowledge about predictors of health-related quality of life for multimorbid patients with type 2 diabetes mellitus in primary care could help to improve quality and patient-centeredness of care in this specific group of patients. Thus, the aim of this study was to investigate the impact of several patient characteristics on health-related quality of life of multimorbid patients with type 2 diabetes mellitus in a community setting. Research Design and Methods A cross-sectional study with 32 primary care practice teams in Mannheim, Germany, and randomly selected multimorbid patients with type 2 diabetes mellitus (N = 495) was conducted. In order to analyze associations of various patient characteristics with health-related quality of life (EQ-5D index) a multilevel analysis was applied. Results After excluding patients with missing data, the cohort consisted of 404 eligible patients. The final multilevel model highlighted six out of 14 explanatory patient variables which were significantly associated with health-related quality of life: female gender (r = -0.0494; p = .0261), school education of nine years or less (r = -0.0609; p = .0006), (physical) mobility restrictions (r = -0.1074; p = .0003), presence of chronic pain (r = -0.0916; p = .0004), diabetes-related distress (r = -0.0133; p < .0001), and BMI (r = -0.0047; p = .0045). Conclusion The findings of this study suggest that increased diabetes-related distress, chronic pain, restrictions in (physical) mobility, female gender, as well as lower education and, increased BMI have a noteworthy impact on health-related quality of life in multimorbid patients with type 2 diabetes mellitus seen in primary care practices in a community setting. The highlighted aspects should gain much more attention when treating multimorbid patients with type 2 diabetes mellitus. PMID:28125691
Scholte, Marijn; Calsbeek, Hilly; Nijhuis-van der Sanden, Maria W G; Braspenning, Jozé
Assessing quality of care from the patient's perspective has changed from patient satisfaction to the more general term patient experience, as satisfaction measures turned out to be less discriminative due to high scores. Literature describes four to ten dimensions of patient experience, tailored to specific conditions or types of care. Given the administrative burden on patients, less dimensions and items could increase feasibility. Ten dimensions of patient experiences with physical therapy (PT) were proposed in the Netherlands in a consensus-based process with patients, physical therapists, health insurers, and policy makers. The aim of this paper is to detect the number of dimensions from data of a field study using factor analysis at item level. A web-based survey yielded data of 2,221 patients from 52 PT practices on 41 items. Principal component factor analysis at item level was used to assess the proposed distinction between the ten dimensions. Factor analysis revealed two dimensions: 'personal interaction' and 'practice organisation'. The dimension 'patient reported outcome' was artificially established. The three dimensions 'personal interaction' (14 items) (median(practice level) = 91.1; IQR = 2.4), 'practice organisation' (9 items) (median(practice level) = 88.9; IQR = 6.0) and 'outcome' (3 items) (median(practice level) = 80.6; IQR = 19.5) reduced the number of dimensions from ten to three and the number of items by more than a third. Factor analysis revealed three dimensions and achieved an item reduction of more than a third. It is a relevant step in the development process of a quality measurement tool to reduce respondent burden, increase clarity, and promote feasibility.
Roberts, Laura Weiss; Warner, Teddy D; Nguyen, Khanh P; Geppert, Cynthia M A; Rogers, Melinda K; Roberts, Brian B
Study designs involving medication-free intervals have become the subject of controversy in the current dialogue on the ethics of serious mental-illness research. Schizophrenia patients ( n=59; response rate 75%; 48% inpatients) and psychiatrists ( n=70; response rate 83%) responded to ten questions about a hypothetical scenario in which a schizophrenia study participant experienced the re-emergence of serious symptoms during the "wash-out" phase of a psychopharmacological trial. Patients provided their personal views, and psychiatrists gave their personal views and made predictions as to how schizophrenia patients in general would respond. Schizophrenia patients and psychiatrists judged the hypothetical protocol as moderately harmful. Both expressed relatively low likelihood of willingness to participate in the study, given this potential outcome. Schizophrenia patients and psychiatrists found the decision fairly easy. Psychiatrists underestimated the level of harm and overestimated the difficulty of the decision as perceived by schizophrenia patients. Schizophrenia patients acknowledged that the offer of money and request by their doctor or family would increase the likelihood of their participation, and psychiatrists accurately predicted these responses. In hypothetical decisions about the symptomatic study participant, 38% of patients and 39% of psychiatrists said they would allow him to leave the hospital. A majority of both groups (63% and 52%, respectively) indicated that medication should be given despite the study participant's objection. Psychiatrists incorrectly predicted this response, expecting instead that most schizophrenia patients would support the discharge request and few would support involuntary administration of medication. Patients and psychiatrists offered similar reasons for participation decisions but differed in their strategies for handling the situation. These findings suggest potential strengths of decisionally capable schizophrenia
Marmouch, Hela; Arfa, Sondes; Mohamed, Saoussen Cheikh; Slim, Tensim; Khochtali, Ines
Metastases of solid tumors to the pituitary gland are often asymptomatic or appereas as with diabetes insipid us. Pituitary metastases more commonly affect the posterior lobe and the infundibulum than the anterior lobe. The presentation with an acute adrenal insufficiency is a rare event. A 69-year-old men presented with vomiting, low blood pressure and hypoglycemia. Hormonal exploration confirmed a hypopituitarism. Appropriate therapy was initiated urgently. The hypothalamic-pituitary MRI showed a pituitary hypertrophy, a nodular thickening of the pituitary stalk. The chest X Rays revealed pulmonary opacity. Computed tomography scan of the chest showed a multiples tumors with mediastinal lymphadenopathy. Bronchoscopy and biopsy demonstrated a pulmonary adenocarcinoma. Hence we concluded to a lung cancer with multiple pituitary and adrenal gland metastases. This case emphasizes the need for an etiological investigation of acute adrenal insufficiency after treatment of acute phase. PMID:27200139
Gustafson, Michael P.; Staff, Nathan P.; Bornschlegl, Svetlana; Butler, Greg W.; Maas, Mary L.; Kazamel, Mohamed; Zubair, Adeel; Gastineau, Dennis A.; Windebank, Anthony J.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a median lifespan of 2–3 years after diagnosis. There are few meaningful treatments that alter progression in this disease. Preclinical and clinical studies have demonstrated that neuroinflammation may play a key role in the progression rate of ALS. Despite this, there are no validated biomarkers of neuroinflammation for use in clinical practice or clinical trials. Biomarkers of neuroinflammation could improve patient management, provide new therapeutic targets, and possibly help stratify clinical trial selection and monitoring. However, attempts to identify a singular cause of neuroinflammation have not been successful. Here, we performed multi-parameter flow cytometry to comprehensively assess 116 leukocyte populations and phenotypes from lymphocytes, monocytes, and granulocytes in a cohort of 80 ALS patients. We identified 32 leukocyte phenotypes that were altered in ALS patients compared to age and gender matched healthy volunteers (HV) that included phenotypes of both inflammation and immune suppression. Unsupervised hierarchical clustering and principle component analysis of ALS and HV immunophenotypes revealed two distinct immune profiles of ALS patients. ALS patients were clustered into a profile distinct from HVs primarily due to differences in a multiple T cell phenotypes, CD3+CD56+ T cells and HLA-DR on monocytes. Patients clustered into an abnormal immune profile were younger, more likely to have a familial form of the disease, and survived longer than those patients who clustered similarly with healthy volunteers (344 weeks versus 184 weeks; p = 0.012). The data set generated from this study establishes an extensive accounting of immunophenotypic changes readily suitable for biomarker validation studies. The extensive immune system changes measured in this study indicate that normal immune homeostatic mechanisms are disrupted in ALS patients, and that multiple immune states
Arenas, Minerva Angélica Romero; Fowler, Richard G.; Lucas, F. Anthony San; Shen, Jie; Rich, Thereasa A.; Grubbs, Elizabeth G.; Lee, Jeffrey E.; Scheet, Paul; Perrier, Nancy D.; Zhao, Hua
Background Whole-exome sequencing studies have not established definitive somatic mutation patterns among patients with sporadic hyperparathyroidism (HPT). No sequencing has evaluated multiple endocrine neoplasia type 1 (MEN1)-related HPT. We sought to perform whole-exome sequencing in HPT patients to identify somatic mutations and associated biological pathways and tumorigenic networks. Methods Whole-exome sequencing was performed on blood and tissue from HPT patients (MEN1 and sporadic) and somatic single nucleotide variants (SNVs) were identified. Stop-gain and stop-loss SNVs were analyzed with Ingenuity Pathways Analysis (IPA). Loss of heterozygosity (LOH) was also assessed. Results Sequencing was performed on 4 MEN1 and 10 sporadic cases. Eighteen stop-gain/stop-loss SNV mutations were identified in 3 MEN1 patients. One complex network was identified on IPA: Cellular function and maintenance, tumor morphology, and cardiovascular disease (IPA score = 49). A nonsynonymous SNV of TP53 (lysine-to-glutamic acid change at codon 81) identified in a MEN1 patient was suggested to be a driver mutation (Cancer-specific High-throughput Annotation of Somatic Mutations; P = .002). All MEN1 and 3/10 sporadic specimens demonstrated LOH of chromosome 11. Conclusion Whole-exome sequencing revealed somatic mutations in MEN1 associated with a single tumorigenic network, whereas sporadic pathogenesis seemed to be more diverse. A somatic TP53 mutation was also identified. LOH of chromosome 11 was seen in all MEN1 and 3 of 10 sporadic patients. PMID:25456907
Przybylski, Andrzej; Zakrzewska-Koperska, Joanna; Maciag, Aleksander; Derejko, Paweł; Orczykowski, Michał; Szumowski, Lukasz; Walczak, Franciszek
The aim of remote monitoring of implantable cardioverter-defibrillators (ICD) is to increase the patient's safety by early detection of technical or medical malfunctions and decrease the number of follow-up visits. To evaluate the feasibility and reliability of internet-based home monitoring of ICD recipients in Poland. Twenty-seven patients with ICD with remote monitoring options were evaluated; 20 (74%) patients had a single chamber ICD, 6 (22%) patients had a dual chamber ICD and one had an ICD with a resynchronisation therapy option. Medical and technical events reported by the remote monitoring system as well as interruptions in monitoring longer than 14 days were analysed. The patients were followed for 12.7 +/- 10.5 months. Two of them died because of heart failure (6 and 13 months after ICD implantation, respectively). The remote monitoring system reported medical events in 13 (48%) patients. In total, we received 32 event reports (from 1 to 19 per patient, mean 2.6) which were generated due to the detection of ventricular tachycardia (VT) (17 events in 9 patients), ventricular fibrillation (VF) (9 episodes in 6 patients), ineffective defibrillation with the maximal energy (5 reports in 3 patients) and supraventricular tachycardia in the VT detection window (1). Two patients had more than 3 VT/VF episodes during 24 h. There were no reports on technical abnormalities of the ICD system. Interruptions in home monitoring longer than 14 days occurred in 5 (18.5%) patients and lasted 2 to 14 weeks (mean 2.8 +/- 7.1). The longest break was caused by the patient's stay abroad. The remaining interruptions were caused by: journeys (5 episodes), hospitalisations (4), and a temporary stay in a place without sufficient GSM coverage (3). During the follow-up period there were no interruptions in monitoring caused by transmitter or ICD failure. All data received by the home monitoring system were confirmed during the follow-up visits. Remote monitoring of ICD recipients
Ardatskaia, M D; Loginov, V A; Minushkin, O N
To study the frequency of occurrence of small intestinal bacterial overgrowth (SIBO) in GERD patients with reduced stomach acid secretion receiving long-term PPI treatment, and patients with chronic atrophic gastritis with reduced stomach acid secretion, using the hydrogen breath test (HBT) and studies of short-chain fatty acids (SCFA) in various biological substrates; compare the obtained results. There were 100 people surveyed: 1 group consisted of 40 patients with chronic atrophic gastritis (HG) with reduced stomach acid secretion; 2 group consisted of 60 patients of GERD in patients receiving PPI different duration (0-6 months, 6-12 months more than 12 months). All the patients were examined by a load of lactulose and research SCFA using gas-liquid chromatographic analysis (GC-analysis) in various biological substrates (duodenal secretion and feces). When performing HBT in patients with chronic atrophic gastritis frequency detection SIBO amounted to 57.5 per cent. In GERD patients receiving PPI SIBO was detected in 8.3% of cases (0-6 months of treatment), 21.7% (6-12 months of treatment), 61.6% (over 12 months). 15% of HG patients and 13.3% of GERD patients receiving PPI, with clinical manifestations of SIBO, the data turned out to be negative. The SCFA parameters in the duodenal secretion in patients with GERD during PPI therapy depending on the duration of the admission and in HG patients with reduced stomach acid secretion were studied, as well as in patients with clinical manifestations of SIBO depending on the data of HBT (+/-). We also studied SCFA parameters in patients with positive HBT results depending on time of registration of the increase of hydrogen concentration. It is established that the study of SCFA in the duodenal secretion is an important diagnostic SIBO test, which allows not only to detect increased activity of the microflora, but also to determine its tribal affiliation. In some cases, its information value exceeds the HBT. The study of
Kao, Clara; Hernandez, Kyle M.; DeWane, Gillian; Salwen, Helen R.; Chlenski, Alexandre; Dobratic, Marija; Mariani, Christopher J.; Godley, Lucy A.; Prabhakar, Nanduri; White, Kevin; Stranger, Barbara E.; Cohn, Susan L.
Neuroblastoma is notable for its broad spectrum of clinical behavior ranging from spontaneous regression to rapidly progressive disease. Hypoxia is well known to confer a more aggressive phenotype in neuroblastoma. We analyzed transcriptome data from diagnostic neuroblastoma tumors and hypoxic neuroblastoma cell lines to identify genes whose expression levels correlate with poor patient outcome and are involved in the hypoxia response. By integrating a diverse set of transcriptome datasets, including those from neuroblastoma patients and neuroblastoma derived cell lines, we identified nine genes (SLCO4A1, ENO1, HK2, PGK1, MTFP1, HILPDA, VKORC1, TPI1, and HIST1H1C) that are up-regulated in hypoxia and whose expression levels are correlated with poor patient outcome in three independent neuroblastoma cohorts. Analysis of 5-hydroxymethylcytosine and ENCODE data indicate that at least five of these nine genes have an increase in 5-hydroxymethylcytosine and a more open chromatin structure in hypoxia versus normoxia and are putative targets of hypoxia inducible factor (HIF) as they contain HIF binding sites in their regulatory regions. Four of these genes are key components of the glycolytic pathway and another three are directly involved in cellular metabolism. We experimentally validated our computational findings demonstrating that seven of the nine genes are significantly up-regulated in response to hypoxia in the four neuroblastoma cell lines tested. This compact and robustly validated group of genes, is associated with the hypoxia response in aggressive neuroblastoma and may represent a novel target for biomarker and therapeutic development. PMID:27765905
Janssen, Barbara; Voet, Nicoline; Geurts, Alexander; van Engelen, Baziel; Heerschap, Arend
To investigate the effects of aerobic exercise training (AET) and cognitive-behavioral therapy (CBT), directed towards an increase in daily physical activity, on the progression of fatty infiltration and edema in skeletal muscles of patients with facioscapulohumeral muscular dystrophy (FSHD) type 1 by T2 MRI. Quantitative T2 MRI (qT2 MRI) and fat-suppressed T2 MRI of the thigh were performed at 3T on 31 patients, 13 of whom received usual care (UC), 9 AET, and 9 CBT. Muscle-specific fat fractions (%), derived from qT2 MRI, were recorded pretreatment and posttreatment. Intervention effects were analyzed by comparing fat fraction progression rates of the UC with the treated groups using Mann-Whitney tests, and intermuscle differences by a linear mixed model. Edematous hyperintense lesions were identified on the fat-suppressed T2 MRI. The intraclass correlation coefficient for reproducibility of qT2 MRI fat assessment was 0.99. In the UC group, the fat fraction increased by 6.7/year (95% confidence interval [CI] 4.3 to 9.1). This rate decreased to 2.9/year (95% CI 0.7 to 5.2) in the AET (p = 0.03) and 1.7/year (95% CI -0.2 to 3.6) in the CBT group (p = 0.00015). The treatment effect differed among individual muscles. Fewer new edematous lesions occurred after therapy. Fat fraction derived from qT2 MRI is a reproducible and sensitive biomarker to monitor the effects of increased physical activity in individual muscles. This biomarker reports a favorable effect of AET and CBT on the rate of muscular deterioration in FSHD as reflected in decelerated fat replacement. This study provides Class II evidence that for patients with FSHD type 1, both AET and CBT decrease the rate of fatty infiltration in muscles. © 2016 American Academy of Neurology.
Fang, Rui-Li; Chen, Lin-Xing; Shu, Wen-Sheng; Yao, Shu-Zhong; Wang, Si-Wen; Chen, Yu-Qing
Results of this study showed that the bacterial composition in vagina (V) greatly differed from intrauterine microbiome (I). Microbiomes were present in all intrauterine samples of healthy women (Group H (I)) and patients with endometrial polyps (EP) (including Group EP (I) and Group EP/chronic endometritis (CE) (I)). Indeed, the intrauterine bacteria population in Group EP/CE (I) were more diverse than those in Groups EP (I) and H (I). The result also confirmed the bacterial composition differences between vagina and uterus as well as the intrauterine microbiome alteration in the patients, compared to the healthy. Although bacteria of Proteobacteria, Firmicutes and Actinobacteria, dominated the intrauterine microbiome in all samples, however, proportions of Firmicutes from Group EP/CE (I) and Group EP (I) were much higher than that from Group H (I), in contrast, the proportions of Proteobacteria were far lower than the healthy. At the genus level, compared to Group H (I), it is found that proportions of Lactobacillus, Gardnerella, Bifidobacterium, Streptococcus, and Alteromonas were significantly higher, and that of Pseudomonas were significantly lower in Group EP/CE (I) or Group EP (I). In addition, lower proportions of Enterobacter and Sphingomonas and a higher proportion of Prevotella were also observed in Group EP/CE (I). In conclusion, uterine microbiomes between patients with EP and the healthy are significantly different and all the potentially important variation of uterine microbes may cause EP, but not definitively related to CE. Further experiments should be performed to test these relationships to endometritis occurrence. PMID:27186283
Curone, M; D'Amico, D; Bussone, G
Patients with chronic migraine (CM) and medication overuse (MO) have a high frequency of psychiatric comorbidity or psychopathological traits, the presence of which may have important implications for the course of the CM and the MO, both for response to treatment and possible relapses. Overuse of symptomatic drugs is regarded as one of the most important risk factor for the transformation of episodic migraine into CM and drug-seeking tendency due to fear of headache in chronic migraine patients shares with obsessive-compulsive disorder (OCD) the compulsive quality of the behavior. Aim of this study was to review the clinical history of a sample of CM patients with MO in which an obsessive-compulsive trait was identified, performing a comparison with a sample of patients without obsessive-compulsive trait. We selected 14 patients with positivity to Spectrum Project OBS (obsessive-compulsive disorder) questionnaire and other 14 patients with negativity to the same tool from among a sample of patients who were enrolled in a previous study on the psychopathological profile of patients suffering from CM with MO. According to data obtained from the clinical records referring to the previous 5 years, patients with OBS questionnaire positivity showed a worse clinical course and a tendency to early relapse in MO after symptomatic medication withdrawal. Our results show that the comorbidity of OCD should be always evaluated in patients with CM and MO as it may play a relevant role--particularly if not treated--among the risk factors favoring the progression of episodic migraine to the chronic form, and/or the tendency to a pathological behavior that prompts the overuse of symptomatic medications.
Demirtaş, Murat; Tornador, Cristian; Falcón, Carles; López-Solà, Marina; Hernández-Ribas, Rosa; Pujol, Jesús; Menchón, José M; Ritter, Petra; Cardoner, Narcis; Soriano-Mas, Carles; Deco, Gustavo
Resting-state fMRI (RS-fMRI) has become a useful tool to investigate the connectivity structure of mental health disorders. In the case of major depressive disorder (MDD), recent studies regarding the RS-fMRI have found abnormal connectivity in several regions of the brain, particularly in the default mode network (DMN). Thus, the relevance of the DMN to self-referential thoughts and ruminations has made the use of the resting-state approach particularly important for MDD. The majority of such research has relied on the grand averaged functional connectivity measures based on the temporal correlations between the BOLD time series of various brain regions. We, in our study, investigated the variations in the functional connectivity over time at global and local level using RS-fMRI BOLD time series of 27 MDD patients and 27 healthy control subjects. We found that global synchronization and temporal stability were significantly increased in the MDD patients. Furthermore, the participants with MDD showed significantly increased overall average (static) functional connectivity (sFC) but decreased variability of functional connectivity (vFC) within specific networks. Static FC increased to predominance among the regions pertaining to the default mode network (DMN), while the decreased variability of FC was observed in the connections between the DMN and the frontoparietal network. Hum Brain Mapp 37:2918-2930, 2016. © 2016 Wiley Periodicals, Inc.
Cui, Min; Wang, Qiaolian; Chen, Guang
Breast cancer is the most commonly diagnosed cancer and one of the leading causes of cancer death among women worldwide. It is a biologically variable disease with different molecular subtypes, risk factors, clinical behaviors and responses to treatment. Better understanding of the molecular changes associated with each subtype is essential for identifying new therapeutic targets and markers for the monitoring of treatment responses. In this pilot study, mass spectrometry-based metabolic profiling was performed to characterize the changes in serum profiles of patients with invasive ductal carcinoma (IDC) - the most common type of breast cancer. Serum samples from 20 IDC patients and 20 age- and gender-matched healthy subjects were analyzed and 15 differentially expressed metabolites were identified. These metabolites are involved in several metabolic pathways such as sphingolipid metabolism, phospholipid metabolism and fatty acid β-oxidation. Among these, two classes of signaling lipids, lysophosphatidylethanolamine and ceramide, may play an important role in IDC development and progression. This study demonstrates metabolic profiling as a promising tool for finding disease biomarkers and our findings provide new directions for further mechanistic studies on the pathology of IDC.
Amengual, Julià L.; Rojo, Nuria; Veciana de las Heras, Misericordia; Marco-Pallarés, Josep; Grau-Sánchez, Jennifer; Schneider, Sabine; Vaquero, Lucía; Juncadella, Montserrat; Montero, Jordi; Mohammadi, Bahram; Rubio, Francisco; Rueda, Nohora; Duarte, Esther; Grau, Carles; Altenmüller, Eckart; Münte, Thomas F.; Rodríguez-Fornells, Antoni
Background Several recently developed therapies targeting motor disabilities in stroke sufferers have shown to be more effective than standard neurorehabilitation approaches. In this context, several basic studies demonstrated that music training produces rapid neuroplastic changes in motor-related brain areas. Music-supported therapy has been recently developed as a new motor rehabilitation intervention. Methods and Results In order to explore the plasticity effects of music-supported therapy, this therapeutic intervention was applied to twenty chronic stroke patients. Before and after the music-supported therapy, transcranial magnetic stimulation was applied for the assessment of excitability changes in the motor cortex and a 3D movement analyzer was used for the assessment of motor performance parameters such as velocity, acceleration and smoothness in a set of diadochokinetic movement tasks. Our results suggest that the music-supported therapy produces changes in cortical plasticity leading the improvement of the subjects' motor performance. Conclusion Our findings represent the first evidence of the neurophysiological changes induced by this therapy in chronic stroke patients, and their link with the amelioration of motor performance. Further studies are needed to confirm our observations. PMID:23613966
Tornador, Cristian; Falcón, Carles; López‐Solà, Marina; Hernández‐Ribas, Rosa; Pujol, Jesús; Menchón, José M.; Ritter, Petra; Cardoner, Narcis; Soriano‐Mas, Carles; Deco, Gustavo
Abstract Resting‐state fMRI (RS‐fMRI) has become a useful tool to investigate the connectivity structure of mental health disorders. In the case of major depressive disorder (MDD), recent studies regarding the RS‐fMRI have found abnormal connectivity in several regions of the brain, particularly in the default mode network (DMN). Thus, the relevance of the DMN to self‐referential thoughts and ruminations has made the use of the resting‐state approach particularly important for MDD. The majority of such research has relied on the grand averaged functional connectivity measures based on the temporal correlations between the BOLD time series of various brain regions. We, in our study, investigated the variations in the functional connectivity over time at global and local level using RS‐fMRI BOLD time series of 27 MDD patients and 27 healthy control subjects. We found that global synchronization and temporal stability were significantly increased in the MDD patients. Furthermore, the participants with MDD showed significantly increased overall average (static) functional connectivity (sFC) but decreased variability of functional connectivity (vFC) within specific networks. Static FC increased to predominance among the regions pertaining to the default mode network (DMN), while the decreased variability of FC was observed in the connections between the DMN and the frontoparietal network. Hum Brain Mapp 37:2918–2930, 2016. © 2016 Wiley Periodicals, Inc. PMID:27120982
Bernardino, A L; Ferri, A; Passos-Bueno, M R; Kim, C E; Nakaie, C M; Gomes, C E; Damaceno, N; Zatz, M
We have performed molecular genetic analyses on 160 Brazilian patients diagnosed with cystic fibrosis (CF). Screening of mutations in 320 CF chromosomes was performed through single strand conformation polymorphism (SSCP) and heteroduplex analyses assay followed by DNA sequencing of the 27 exons and exon/intron boundaries of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of CFTR variants of T-tract length of intron 8 (IVS8 Tn) was also investigated. This analysis enabled the detection of 232/320 CF mutations (72.2%) and complete genotyping of 61% of the patients. The deltaF508 mutation was found in 48.4% of the alleles. Another fifteen mutations (previously reported) were detected: G542X, R1162X, N1303K, R334W, W1282X, G58E, L206W, R553X, 621+1G-->T, V232D, 1717-1G-->A, 2347 delG, R851L, 2789+5G-->A, and W1089X. Five novel mutations were identified, V201M (exon 6a), Y275X (exon 6b), 2686 insT (exon 14a), 3171 delC (exon 17a), and 3617 delGA (exon 19). These results contribute to the molecular characterization of CF in the Brazilian population. In addition, the identification of the novel mutation Y275X allowed prenatal diagnosis in a high-risk fetus.
Roccaro, Aldo M; Sacco, Antonio; Shi, Jiantao; Chiarini, Marco; Perilla-Glen, Adriana; Manier, Salomon; Glavey, Siobhan; Aljawai, Yosra; Mishima, Yuji; Kawano, Yawara; Moschetta, Michele; Correll, Mick; Improgo, Ma Reina; Brown, Jennifer R; Imberti, Luisa; Rossi, Giuseppe; Castillo, Jorge J; Treon, Steven P; Freedman, Matthew L; Van Allen, Eliezer M; Hide, Winston; Hiller, Elaine; Rainville, Irene; Ghobrial, Irene M
Familial aggregation of Waldenström macroglobulinemia (WM) cases, and the clustering of B-cell lymphoproliferative disorders among first-degree relatives of WM patients, has been reported. Nevertheless, the possible contribution of inherited susceptibility to familial WM remains unrevealed. We performed whole exome sequencing on germ line DNA obtained from 4 family members in which coinheritance for WM was documented in 3 of them, and screened additional independent 246 cases by using gene-specific mutation sequencing. Among the shared germ line variants, LAPTM5(c403t) and HCLS1(g496a) were the most recurrent, being present in 3/3 affected members of the index family, detected in 8% of the unrelated familial cases, and present in 0.5% of the nonfamilial cases and in <0.05 of a control population. LAPTM5 and HCLS1 appeared as relevant WM candidate genes that characterized familial WM individuals and were also functionally relevant to the tumor clone. These findings highlight potentially novel contributors for the genetic predisposition to familial WM and indicate that LAPTM5(c403t) and HCLS1(g496a) may represent predisposition alleles in patients with familial WM. © 2016 by The American Society of Hematology.
Ramachandra, Abhay B; Kahn, Andrew M; Marsden, Alison L
Mechanical stimuli are key to understanding disease progression and clinically observed differences in failure rates between arterial and venous grafts following coronary artery bypass graft surgery. We quantify biologically relevant mechanical stimuli, not available from standard imaging, in patient-specific simulations incorporating non-invasive clinical data. We couple CFD with closed-loop circulatory physiology models to quantify biologically relevant indices, including wall shear, oscillatory shear, and wall strain. We account for vessel-specific material properties in simulating vessel wall deformation. Wall shear was significantly lower (p = 0.014*) and atheroprone area significantly higher (p = 0.040*) in venous compared to arterial grafts. Wall strain in venous grafts was significantly lower (p = 0.003*) than in arterial grafts while no significant difference was observed in oscillatory shear index. Simulations demonstrate significant differences in mechanical stimuli acting on venous vs. arterial grafts, in line with clinically observed graft failure rates, offering a promising avenue for stratifying patients at risk for graft failure.
Ramachandra, Abhay B.; Kahn, Andrew M.
Mechanical stimuli are key to understanding disease progression and clinically observed differences in failure rates between arterial and venous grafts following coronary artery bypass graft surgery. We quantify biologically relevant mechanical stimuli, not available from standard imaging, in patient-specific simulations incorporating non-invasive clinical data. We couple CFD with closed-loop circulatory physiology models to quantify biologically relevant indices, including wall shear, oscillatory shear, and wall strain. We account for vessel-specific material properties in simulating vessel wall deformation. Wall shear was significantly lower (p = 0.014*) and atheroprone area significantly higher (p = 0.040*) in venous compared to arterial grafts. Wall strain in venous grafts was significantly lower (p = 0.003*) than in arterial grafts while no significant difference was observed in oscillatory shear index. Simulations demonstrate significant differences in mechanical stimuli acting on venous vs. arterial grafts, in line with clinically observed graft failure rates, offering a promising avenue for stratifying patients at risk for graft failure. PMID:27447176
Zehir, Ahmet; Benayed, Ryma; Shah, Ronak H; Syed, Aijazuddin; Middha, Sumit; Kim, Hyunjae R; Srinivasan, Preethi; Gao, Jianjiong; Chakravarty, Debyani; Devlin, Sean M; Hellmann, Matthew D; Barron, David A; Schram, Alison M; Hameed, Meera; Dogan, Snjezana; Ross, Dara S; Hechtman, Jaclyn F; DeLair, Deborah F; Yao, JinJuan; Mandelker, Diana L; Cheng, Donavan T; Chandramohan, Raghu; Mohanty, Abhinita S; Ptashkin, Ryan N; Jayakumaran, Gowtham; Prasad, Meera; Syed, Mustafa H; Rema, Anoop Balakrishnan; Liu, Zhen Y; Nafa, Khedoudja; Borsu, Laetitia; Sadowska, Justyna; Casanova, Jacklyn; Bacares, Ruben; Kiecka, Iwona J; Razumova, Anna; Son, Julie B; Stewart, Lisa; Baldi, Tessara; Mullaney, Kerry A; Al-Ahmadie, Hikmat; Vakiani, Efsevia; Abeshouse, Adam A; Penson, Alexander V; Jonsson, Philip; Camacho, Niedzica; Chang, Matthew T; Won, Helen H; Gross, Benjamin E; Kundra, Ritika; Heins, Zachary J; Chen, Hsiao-Wei; Phillips, Sarah; Zhang, Hongxin; Wang, Jiaojiao; Ochoa, Angelica; Wills, Jonathan; Eubank, Michael; Thomas, Stacy B; Gardos, Stuart M; Reales, Dalicia N; Galle, Jesse; Durany, Robert; Cambria, Roy; Abida, Wassim; Cercek, Andrea; Feldman, Darren R; Gounder, Mrinal M; Hakimi, A Ari; Harding, James J; Iyer, Gopa; Janjigian, Yelena Y; Jordan, Emmet J; Kelly, Ciara M; Lowery, Maeve A; Morris, Luc G T; Omuro, Antonio M; Raj, Nitya; Razavi, Pedram; Shoushtari, Alexander N; Shukla, Neerav; Soumerai, Tara E; Varghese, Anna M; Yaeger, Rona; Coleman, Jonathan; Bochner, Bernard; Riely, Gregory J; Saltz, Leonard B; Scher, Howard I; Sabbatini, Paul J; Robson, Mark E; Klimstra, David S; Taylor, Barry S; Baselga, Jose; Schultz, Nikolaus; Hyman, David M; Arcila, Maria E; Solit, David B; Ladanyi, Marc; Berger, Michael F
Tumor molecular profiling is a fundamental component of precision oncology, enabling the identification of genomic alterations in genes and pathways that can be targeted therapeutically. The existence of recurrent targetable alterations across distinct histologically defined tumor types, coupled with an expanding portfolio of molecularly targeted therapies, demands flexible and comprehensive approaches to profile clinically relevant genes across the full spectrum of cancers. We established a large-scale, prospective clinical sequencing initiative using a comprehensive assay, MSK-IMPACT, through which we have compiled tumor and matched normal sequence data from a unique cohort of more than 10,000 patients with advanced cancer and available pathological and clinical annotations. Using these data, we identified clinically relevant somatic mutations, novel noncoding alterations, and mutational signatures that were shared by common and rare tumor types. Patients were enrolled on genomically matched clinical trials at a rate of 11%. To enable discovery of novel biomarkers and deeper investigation into rare alterations and tumor types, all results are publicly accessible.
Borchardt, Viola; Krause, Anna Linda; Starck, Tuomo; Nissilä, Juuso; Timonen, Markku; Kiviniemi, Vesa; Walter, Martin
Seasonal affective disorder (SAD) is a subtype of recurrent unipolar or bipolar depressive disorder with a higher prevalence in winter than in summer. The biological underpinnings of SAD are so far poorly understood. Studies examining SAD have found disturbances between the molecular and connectivity scales. The aim of the study was to explore changes in functional connectivity typical for SAD. We investigated unmedicated, untreated SAD patients and healthy controls using resting-state functional magnetic resonance imaging (rs-fMRI) utilizing graph theory, a data driven and hypothesis free approach, to model functional networks of the brain. Comparing whole brain network properties using graph theory we observed globally affected network topologies with increasing pathlength in SAD. Nodal changes, however, were highly restricted to bilateral inferior occipital cortex. Interestingly, we found a lateralization where hyper-connectedness was restricted to right inferior occipital cortex and hyper-efficiency was found in the left inferior occipital cortex. Furthermore, we found these nodes became more "hub like" in patients, suggesting a greater functional role. Our work stresses the importance of abnormal intrinsic processing during rest, primarily affecting visual areas and subsequently changing whole brain networks, and thus providing an important hint towards potential future therapeutic approaches.
Fagerberg, Tomas; Söderman, Erik; Gustavsson, J. Petter; Agartz, Ingrid; Jönsson, Erik G.
Abstract Background: Personality is considered as an important aspect that can affect symptoms and social function in persons with schizophrenia. The personality questionnaire Swedish universities Scales of Personality (SSP) has not previously been used in psychotic disorder. Aims: To investigate if SSP has a similar internal consistency and factor structure in a psychosis population as among healthy controls and if patients with psychotic disorders differ from non-psychotic individuals in their responses to the SSP. Methods: Patients with psychotic disorders (n = 107) and healthy controls (n = 119) completed SSP. SSP scores were analyzed for internal consistency and case-control differences by Cronbach’s alfa and multiple analysis of covariance, respectively. Results: Internal consistencies among patients were overall similar to that of controls. The patients scored significantly higher in seven (Somatic trait anxiety, Psychic trait anxiety, Stress susceptibility, Lack of assertiveness, Detachment, Embitterment, Mistrust) and lower in three (Physical trait aggression, Verbal trait aggression, Adventure seeking) of the 13 scales of the inventory. In three scales (Impulsiveness, Social desirability and Trait irritability) there was no significant difference between the scoring of patients and healthy controls. Conclusion: The reliability estimates suggest that SSP can be used by patients with psychotic disorders in stable remission. Patients score higher on neuroticism-related scales and lower on aggression-related scales than controls, which is in accordance with earlier studies where other personality inventories were used. PMID:27103375
Fagerberg, Tomas; Söderman, Erik; Gustavsson, J Petter; Agartz, Ingrid; Jönsson, Erik G
Personality is considered as an important aspect that can affect symptoms and social function in persons with schizophrenia. The personality questionnaire Swedish universities Scales of Personality (SSP) has not previously been used in psychotic disorder. To investigate if SSP has a similar internal consistency and factor structure in a psychosis population as among healthy controls and if patients with psychotic disorders differ from non-psychotic individuals in their responses to the SSP. Patients with psychotic disorders (n = 107) and healthy controls (n = 119) completed SSP. SSP scores were analyzed for internal consistency and case-control differences by Cronbach's alfa and multiple analysis of covariance, respectively. Internal consistencies among patients were overall similar to that of controls. The patients scored significantly higher in seven (Somatic trait anxiety, Psychic trait anxiety, Stress susceptibility, Lack of assertiveness, Detachment, Embitterment, Mistrust) and lower in three (Physical trait aggression, Verbal trait aggression, Adventure seeking) of the 13 scales of the inventory. In three scales (Impulsiveness, Social desirability and Trait irritability) there was no significant difference between the scoring of patients and healthy controls. The reliability estimates suggest that SSP can be used by patients with psychotic disorders in stable remission. Patients score higher on neuroticism-related scales and lower on aggression-related scales than controls, which is in accordance with earlier studies where other personality inventories were used.
Bohensky, M A; Jolley, D; Sundararajan, V; Pilcher, D V; Evans, S; Brand, C A
In the field of intensive care, clinical data registries are commonly used to support clinical audit and develop evidence-based practice. However, they are often restricted to the intensive care unit episode only, limiting their ability to follow long-term patient outcomes and identify patient readmissions. Data linkage can be used to supplement existing data, but a lack of unique patient identifiers may compromise the accuracy of the linkage process. The aim of this study was to assess the quality of linking the Australia/New Zealand critical care registry to a state financial claims database using a method without direct patient identifiers and to identify possible sources of bias from this method. We used a linkage method relying on indirect patient identifiers and compared the accuracy of this method to one that also included the patient medical record number and date of birth. The overall linkage rate using the method with indirect identifiers was 92.3% compared to 94.5% using the method with direct identifiers. Factors most strongly associated with not being a correct link in the first method included patients at one study hospital, admissions in 2002 and 2003 and having a hospital length of stay of 20 days or more. Linking the Australia/New Zealand critical care without direct patient identifiers is a valid linkage method that will enable the measurement of long-term patient survival and readmissions. While some sources of bias have been identified, this method provides sufficient quality linkage that will support broad analyses designed to signal future in-depth research.
Kiltz, Uta; Essers, Ivette; Hiligsmann, Mickael; Braun, Juergen; Maksymowych, Walter P; Taylor, William J; van der Heijde, Désirée; Boonen, Annelies
The aim was to investigate the importance of aspects of health for patients with axial SpA (axSpA) and to explore differences across different subgroups. A Best Worst Scaling exercise was conducted in patients with axSpA from 20 countries (10 patients per country) worldwide. Using the 17 items of the Assessment of SpondyloArthritis international Society Health Index, a set of 17 choice tasks was generated. Patients had to indicate in each choice task the most and least important out of four varying items. The hierarchical Bayes method was used to estimate the relative importance score for each item (summing to 100). Subgroup comparisons were performed for relevant demographic (gender, age, work status, geographical area and education) and disease characteristics (SpA phenotype, disease duration and disease activity) using one-way analysis of variance or the Mann-Whitney U-test. The experiment was completed by 199 patients with axSpA [117 (58.8%) men, mean (sd) age 42.3 (13.6) years, mean (sd) disease duration 11.1 (11.2) years, 130 (65.3%) AS]. The highest relative importance was assigned to pain (14.2; 95% CI: 13.8, 14.6), sleep (10.3; 95% CI: 9.6, 11.0), being exhausted (9.6; 95% CI: 9.0, 10.3), standing (9.25; 95% CI: 8.5, 10.0) and motivation to do anything that requires physical effort (8.7; 95% CI: 8.1, 9.3). The lowest relative importance was assigned to sexual relationships, toileting, contact with people, driving and washing hair. Differences between subgroups were small or in aspects with lower importance. A clear gradient was seen in the importance of the different aspects of health that impact functioning of patients with axSpA. Differences between subgroups were small or non-existent. These findings help to align clinical care to patients' needs. © The Author 2016. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: email@example.com.
King, Ron Harman; Stanley, Jonathan; Baum, Neil
For all of us living in the Internet age, it's hard to underestimate the power of online reviews. Before booking a reservation at a new hotel or restaurant, who doesn't consult websites such as TripAdvisor and Open Table? Who would gamble $100 on a dinner out or $200 on a hotel stay before first seeing what other diners and patrons had to say about their experiences? Patients who are looking for a healthcare provider are no different than those customers looking for a restaurant or a hotel; they want opinions from others who have previously availed themselves of that restaurant or hotel. This article addresses the importance of online reputation management and offers ideas and suggestions for healthcare providers to control and protect their online reputations.
Nguyen, Thi Huyen Tram; Anglaret, Xavier; Madelain, Vincent; Taburet, Anne-Marie; Baize, Sylvain; Pastorino, Boris; Rodallec, Anne; Piorkowski, Géraldine; Conde, Mamoudou N.; Bore, Joseph Akoi; Carbonnelle, Caroline; Jacquot, Frédéric; Raoul, Hervé; Malvy, Denis; Mentré, France
Background In 2014–2015, we assessed favipiravir tolerance and efficacy in patients with Ebola virus (EBOV) disease (EVD) in Guinea (JIKI trial). Because the drug had never been used before for this indication and that high concentrations of the drugs were needed to achieve antiviral efficacy against EBOV, a pharmacokinetic model had been used to propose relevant dosing regimen. Here we report the favipiravir plasma concentrations that were achieved in participants in the JIKI trial and put them in perspective with the model-based targeted concentrations. Methods and findings Pre-dose drug concentrations were collected at Day-2 and Day-4 of treatment in 66 patients of the JIKI trial and compared to those predicted by the model taking into account patient’s individual characteristics. At Day-2, the observed concentrations were slightly lower than the model predictions adjusted for patient’s characteristics (median value of 46.1 versus 54.3 μg/mL for observed and predicted concentrations, respectively, p = 0.012). However, the concentrations dropped at Day-4, which was not anticipated by the model (median values of 25.9 and 64.4 μg/mL for observed and predicted concentrations, respectively, p<10−6). There was no significant relationship between favipiravir concentrations and EBOV viral kinetics or mortality. Conclusions Favipiravir plasma concentrations in the JIKI trial failed to achieve the target exposure defined before the trial. Furthermore, the drug concentration experienced an unanticipated drop between Day-2 and Day-4. The origin of this drop could be due to severe sepsis conditions and/or to intrinsic properties of favipiravir metabolism. Dose-ranging studies should be performed in healthy volunteers to assess the concentrations and the tolerance that could be achieved with high doses. Trial registration ClinicalTrials.gov NCT02329054 PMID:28231247
Malak, Sandra; Sotto, Jean-Jacques; Ceccaldi, Joël; Colombat, Philippe; Casassus, Philippe; Jaulmes, Dominique; Rochant, Henri; Cheminant, Morgane; Beaussant, Yvan; Zittoun, Robert; Bordessoule, Dominique
Admission of patients with hematological malignancies to intensive care unit (ICU) raises recurrent ethical issues for both hematological and intensivist teams. The decision of transfer to ICU has major consequences for end of life care for patients and their relatives. It also impacts organizational human and economic aspects for the ICU and global health policy. In light of the recent advances in hematology and critical care medicine, a wide multidisciplinary debate has been conducted resulting in guidelines approved by consensus by both disciplines. The main aspects developed were (i) clarification of the clinical situations that could lead to a transfer to ICU taking into account the severity criteria of both hematological malignancy and clinical distress, (ii) understanding the process of decision-making in a context of regular interdisciplinary concertation involving the patient and his relatives, (iii) organization of a collegial concertation at the time of the initial decision of transfer to ICU and throughout and beyond the stay in ICU. The aim of this work is to propose suggestions to strengthen the collaboration between the different teams involved, to facilitate the daily decision-making process, and to allow improvement of clinical practice. PMID:25349612
Belke, Marcus; Heverhagen, Johannes T; Keil, Boris; Rosenow, Felix; Oertel, Wolfgang H; Stiasny-Kolster, Karin; Knake, Susanne; Menzler, Katja
We evaluated cerebral white and gray matter changes in patients with iRLS in order to shed light on the pathophysiology of this disease. Twelve patients with iRLS were compared to 12 age- and sex-matched controls using whole-head diffusion tensor imaging (DTI) and voxel-based morphometry (VBM) techniques. Evaluation of the DTI scans included the voxelwise analysis of the fractional anisotropy (FA), radial diffusivity (RD), and axial diffusivity (AD). Diffusion tensor imaging revealed areas of altered FA in subcortical white matter bilaterally, mainly in temporal regions as well as in the right internal capsule, the pons, and the right cerebellum. These changes overlapped with changes in RD. Voxel-based morphometry did not reveal any gray matter alterations. We showed altered diffusion properties in several white matter regions in patients with iRLS. White matter changes could mainly be attributed to changes in RD, a parameter thought to reflect altered myelination. Areas with altered white matter microstructure included areas in the internal capsule which include the corticospinal tract to the lower limbs, thereby supporting studies that suggest changes in sensorimotor pathways associated with RLS.
Bergquist, U.; Babic, A.
The study has focused on deriving a certainty measure for the classification of disease activity in patients suffering from inflammatory bowel disease (IBD). The aim is to build an Internet-based health-related quality-of-life (HRQoL) questionnaire to continuously monitor a patient's condition. Data from 109 patients was collected four times in intervals of three months, using a standardized disease-specific quality-of-life questionnaire, the Rating Form of IBD Patient Concern (RFIPC), extended with 11 additional questions. Correlation analysis showed that the RFIPC items along with "general wellbeing" were highly correlated (significance < 0.001). Factor analysis confirmed this high correlation and only one factor was identified among those variables. Multivariate discriminant analysis was successful to 78.1% in classifying between cases of remission and relapse. Implementation of a smooth threshold function decreased the classification error. However, discrimination regarding change in disease activity over time has to be further improved. PMID:10566349
Zimmermann, M; Waap, I
The success of effective pain treatment can best be established on the basis of a multidimensional assessment of the patient's quality of life. Within the framework of a prospective multicentre observational study, patients suffering from chronic pain were investigated for impairment of quality of life in regard to 32 different activities. The phase prior to and during treatment with fentanyl-TTS were compared. A total of 6677 patients were included in the study. The source of the pain was, forthe most part, non-tumor-related diseases. Some 64% of the patients were dissatisfied with their prior medication. The analgesics included nonopioid substances and both weak and strong opioids. 18% of the patients had received no prior opioid medication. During the two-month period under observation, pain intensity decreased from an average of 7.6 +/- 1.3 to 3.1 +/- 1.6 on the visual analog scale. With regard to quality of life, more than 80% of the patients experienced an appreciable improvement. Pain reduction was particularly common in patients with pain associated with the locomotor system, where an improvement in particular in walking, mobility or driving ability and good pain control was reported. In the area of sexuality, too, a significant improvement in quality of life was to be seen. Tolerability was good. Chronic pain can be effectively treated with fentanyl-TTS, which has a very favorable side effect profile. The reduction in pain led to an appreciable improvement in quality of life in all the areas reported bythe patients.
Del Sindaco, Donatella; Tinti, Maria Denitza; Monzo, Luca; Pulignano, Giovanni
Heart failure is a common and disabling condition with morbidity and mortality that increase dramatically with advancing age. Large observational studies, retrospective subgroup analyses and meta-analyses of clinical trials in systolic heart failure, and recently published randomized studies have provided data supporting the use of beta-blockers as a baseline therapy in heart failure in the elderly. Despite the available evidence about beta-blockers, this therapy is still less frequently used in elderly compared to younger patients. Nebivolol is a third-generation cardioselective beta-blocker with L-arginine/nitric oxide-induced vasodilatory properties, approved in Europe and several other countries for the treatment of essential hypertension, and in Europe for the treatment of stable, mild, or moderate chronic heart failure, in addition to standard therapies in elderly patients aged 70 years old or older. The effects of nebivolol on left ventricular function in elderly patients with chronic heart failure (ENECA) and the study of effects of nebivolol intervention on outcomes and rehospitalization in seniors with heart failure (SENIORS) have been specifically aimed to assess the efficacy of beta-blockade in elderly heart failure patients. The results of these two trials demonstrate that nebivolol is well tolerated and effective in reducing mortality and morbidity in older patients, and that the beneficial clinical effect is present also in patients with mildly reduced ejection fraction. Moreover, nebivolol appears to be significantly cost-effective when prescribed in these patients. However, further targeted studies are needed to better define the efficacy as well as safety profile in frail and older patients with comorbid diseases. PMID:21152240
Tha, Khin K; Terae, Satoshi; Nakagawa, Shin; Inoue, Takeshi; Kitagawa, Nobuki; Kako, Yuki; Nakato, Yasuya; Akter Popy, Kawser; Fujima, Noriyuki; Zaitsu, Yuri; Yoshida, Daisuke; Ito, Yoichi M; Miyamoto, Tamaki; Koyama, Tsukasa; Shirato, Hiroki
Diffusion tensor imaging (DTI) is considered to be able to non-invasively quantify white matter integrity. This study aimed to use DTI to evaluate white matter integrity in non-geriatric patients with major depressive disorder (MDD) who were free of antidepressant medication. DTI was performed on 19 non-geriatric patients with MDD, free of antidepressant medication, and 19 age-matched healthy subjects. Voxel-based and histogram analyses were used to compare fractional anisotropy (FA) and mean diffusivity (MD) values between the two groups, using two-sample t tests. The abnormal DTI indices, if any, were tested for correlation with disease duration and severity, using Pearson product-moment correlation analysis. Voxel-based analysis showed clusters with FA decrease at the bilateral frontal white matter, anterior limbs of internal capsule, cerebellum, left putamen and right thalamus of the patients. Histogram analysis revealed lower peak position of FA histograms in the patients. FA values of the abnormal clusters and peak positions of FA histograms of the patients exhibited moderate correlation with disease duration and severity. These results suggest the implication of frontal-subcortical circuits and cerebellum in MDD, and the potential utility of FA in evaluation of brain parenchymal integrity. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.
Wolff, Erika M; Liang, Gangning; Cortez, Connie C; Tsai, Yvonne C; Castelao, J Esteban; Cortessis, Victoria K; Tsao-Wei, Denice D; Groshen, Susan; Jones, Peter A
Exposure to tobacco smoke is associated with increased DNA methylation at certain genes in both lung and bladder tumors. We sought to identify interactions in bladder cancer between DNA methylation and a history of smoking, along with any possible effect of aging. We measured DNA methylation in 342 transitional cell carcinoma tumors at BCL2, PTGS2 (COX2), DAPK, CDH1 (ECAD), EDNRB, RASSF1A, RUNX3, TERT, and TIMP3. The prevalence of methylation at RUNX3, a polycomb target gene, increased as a function of age at diagnosis (P = 0.031) and a history of smoking (P = 0.015). RUNX3 methylation also preceded methylation at the other eight genes (P < 0.001). It has been proposed that DNA methylation patterns constitute a "molecular clock" and can be used to determine the "age" of normal tissues (i.e., the number of times the cells have divided). Because RUNX3 methylation increases with age, is not present in normal urothelium, and occurs early in tumorigenesis, it can be used for the first time as a molecular clock to determine the age of a bladder tumor. Doing so reveals that tumors from smokers are "older" than tumors from nonsmokers (P = 0.009) due to tumors in smokers either initiating earlier or undergoing more rapid cell divisions. Because RUNX3 methylation is acquired early on in tumorigenesis, then its detection in biopsy or urine specimens could provide a marker to screen cigarette smokers long before any symptoms of bladder cancer are present.
Campanella, Fabio; Fabbro, Franco; Ius, Tamara; Shallice, Tim; Skrap, Miran
Cognitive effects of brain surgery for the removal of intracranial tumors are still under investigation. For many basic sensory/motor or language-based functions, focal, albeit transient, cognitive deficits have been reported low-grade gliomas (LGGs); however, the effects of surgery on higher-level cognitive functions are still largely unknown. It has recently been shown that, following brain tumors, damage to different brain regions causes a variety of deficits at different levels in the perception and interpretation of emotions and intentions. However, the effects of different tumor histologies and, more importantly, the effects of surgery on these functions have not been examined. The performance of 66 patients affected by high-grade glioma (HGG), LGG, and meningioma on 4 tasks tapping different levels of perception and interpretations of emotion and intentions was assessed before, immediately after, and (for LGG patients) 4 months following surgery. Results showed that HGG patients were generally already impaired in the more perceptual tasks before surgery and did not show surgery effects. Conversely, LGG patients, who were unimpaired before surgery, showed a significant deficit in perceptual tasks immediately after surgery that was recovered within few months. Meningioma patients were substantially unimpaired in all tasks. These results show that surgery can be relatively safe for LGG patients with regard to the higher-level, more complex cognitive functions and can provide further useful information to the neurosurgeon and improve communication with both the patient and the relatives about possible changes that can occur immediately after surgery. © The Author(s) 2015. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: firstname.lastname@example.org.
Baumann, Antoine; Claudot, Frédérique; Audibert, Gérard; Mertes, Paul-Michel; Puybasset, Louis
To fulfill their crucial duty of relieving suffering in their patients, physicians may have to administer palliative sedation when they implement treatment-limitation decisions such as the withdrawal of life-supporting interventions in patients with poor prognosis chronic severe brain injury. The issue of palliative sedation deserves particular attention in adults with serious brain injuries and in neonates with severe and irreversible brain lesions, who are unable to express pain or to state their wishes. In France, treatment limitation decisions for these patients are left to the physicians. Treatment-limitation decisions are made collegially, based on the presence of irreversible brain lesions responsible for chronic severe disorders of consciousness. Before these decisions are implemented, they are communicated to the relatives. Because the presence and severity of pain cannot be assessed in these patients, palliative analgesia and/or sedation should be administered. However, palliative sedation is a complex strategy that requires safeguards to prevent a drift toward hastening death or performing covert euthanasia. In addition to the law on patients' rights at the end of life passed in France on April 22, 2005, a recent revision of Article 37 of the French code of medical ethics both acknowledges that treatment-limitation decisions and palliative sedation may be required in patients with severe brain injuries and provides legal and ethical safeguards against a shift towards euthanasia. This legislation may hold value as a model for other countries where euthanasia is illegal and for countries such as Belgium and Netherlands where euthanasia is legal but not allowed in patients incapable of asking for euthanasia but in whom a treatment limitation decision has been made.
To fulfill their crucial duty of relieving suffering in their patients, physicians may have to administer palliative sedation when they implement treatment-limitation decisions such as the withdrawal of life-supporting interventions in patients with poor prognosis chronic severe brain injury. The issue of palliative sedation deserves particular attention in adults with serious brain injuries and in neonates with severe and irreversible brain lesions, who are unable to express pain or to state their wishes. In France, treatment limitation decisions for these patients are left to the physicians. Treatment-limitation decisions are made collegially, based on the presence of irreversible brain lesions responsible for chronic severe disorders of consciousness. Before these decisions are implemented, they are communicated to the relatives. Because the presence and severity of pain cannot be assessed in these patients, palliative analgesia and/or sedation should be administered. However, palliative sedation is a complex strategy that requires safeguards to prevent a drift toward hastening death or performing covert euthanasia. In addition to the law on patients' rights at the end of life passed in France on April 22, 2005, a recent revision of Article 37 of the French code of medical ethics both acknowledges that treatment-limitation decisions and palliative sedation may be required in patients with severe brain injuries and provides legal and ethical safeguards against a shift towards euthanasia. This legislation may hold value as a model for other countries where euthanasia is illegal and for countries such as Belgium and Netherlands where euthanasia is legal but not allowed in patients incapable of asking for euthanasia but in whom a treatment limitation decision has been made. PMID:21303504
Campanella, Fabio; Fabbro, Franco; Ius, Tamara; Shallice, Tim; Skrap, Miran
Background Cognitive effects of brain surgery for the removal of intracranial tumors are still under investigation. For many basic sensory/motor or language-based functions, focal, albeit transient, cognitive deficits have been reported low-grade gliomas (LGGs); however, the effects of surgery on higher-level cognitive functions are still largely unknown. It has recently been shown that, following brain tumors, damage to different brain regions causes a variety of deficits at different levels in the perception and interpretation of emotions and intentions. However, the effects of different tumor histologies and, more importantly, the effects of surgery on these functions have not been examined. Methods The performance of 66 patients affected by high-grade glioma (HGG), LGG, and meningioma on 4 tasks tapping different levels of perception and interpretations of emotion and intentions was assessed before, immediately after, and (for LGG patients) 4 months following surgery. Results Results showed that HGG patients were generally already impaired in the more perceptual tasks before surgery and did not show surgery effects. Conversely, LGG patients, who were unimpaired before surgery, showed a significant deficit in perceptual tasks immediately after surgery that was recovered within few months. Meningioma patients were substantially unimpaired in all tasks. Conclusions These results show that surgery can be relatively safe for LGG patients with regard to the higher-level, more complex cognitive functions and can provide further useful information to the neurosurgeon and improve communication with both the patient and the relatives about possible changes that can occur immediately after surgery. PMID:25921022
Overgoor, Max L E; de Jong, Tom P V M; Kon, Moshe
The "TOMAX" (TO MAX-imize sensation, sexuality, and quality of life) procedure restores genital sensation in men with low spinal lesions, improving sexual health, as shown previously. It connects the dorsal nerve of the penis to the intact ipsilateral ilioinguinal nerve, unilaterally or bilaterally. This study reports on the technical aspects based on 43 TOMAX nerve transfers. In 40 patients with no penile but intact groin sensation, 43 nerve transfers were performed. Data on patient selection, surgical history, anatomy of the ilioinguinal nerve and dorsal nerve of the penis, unilateral or bilateral surgery, surgical technique, complications, and patient information were collected prospectively. Regardless of origin, all patients with no penile but good groin sensation are eligible for the procedure, provided the ilioinguinal nerve is not damaged because of former inguinal surgery or absent because of anatomical variations. Selection of a unilateral or bilateral procedure depends on the presence or absence of reflex erections and bulbocavernosus reflex. Preliminary experience with the first three bilateral cases shows that it is technically feasible, with encouraging results. The surgical technique has evolved (described in detail, including video) to enhance outcome and reduce complications. Patients are better informed, resulting in realistic expectations. This article synthesizes the procedural and technical experience of 43 TOMAX nerve transfers. Anyone skilled in peripheral nerve surgery and microsurgery can adopt this concept and further develop it. The TOMAX procedure can then be used to restore erogenous penile sensation and improve the quality of sexual health in patients with absent penile but good groin sensation.
Rai, Richa; Chauhan, Sudhir Kumar; Singh, Vikas Vikram; Rai, Madhukar; Rai, Geeta
Systemic lupus erythematosus (SLE) patients exhibit immense heterogeneity which is challenging from the diagnostic perspective. Emerging high throughput sequencing technologies have been proved to be a useful platform to understand the complex and dynamic disease processes. SLE patients categorised based on autoantibody specificities are reported to have differential immuno-regulatory mechanisms. Therefore, we performed RNA-seq analysis to identify transcriptomics of SLE patients with distinguished autoantibody specificities. The SLE patients were segregated into three subsets based on the type of autoantibodies present in their sera (anti-dsDNA+ group with anti-dsDNA autoantibody alone; anti-ENA+ group having autoantibodies against extractable nuclear antigens (ENA) only, and anti-dsDNA+ENA+ group having autoantibodies to both dsDNA and ENA). Global transcriptome profiling for each SLE patients subsets was performed using Illumina® Hiseq-2000 platform. The biological relevance of dysregulated transcripts in each SLE subsets was assessed by ingenuity pathway analysis (IPA) software. We observed that dysregulation in the transcriptome expression pattern was clearly distinct in each SLE patients subsets. IPA analysis of transcripts uniquely expressed in different SLE groups revealed specific biological pathways to be affected in each SLE subsets. Multiple cytokine signaling pathways were specifically dysregulated in anti-dsDNA+ patients whereas Interferon signaling was predominantly dysregulated in anti-ENA+ patients. In anti-dsDNA+ENA+ patients regulation of actin based motility by Rho pathway was significantly affected. The granulocyte gene signature was a common feature to all SLE subsets; however, anti-dsDNA+ group showed relatively predominant expression of these genes. Dysregulation of Plasma cell related transcripts were higher in anti-dsDNA+ and anti-ENA+ patients as compared to anti-dsDNA+ ENA+. Association of specific canonical pathways with the uniquely
Pleguezuelo, Daniel E; Gianelli, Carla
Selective IgA deficiency (SIgAD) is the most prevalent immunodeficiency worldwide, progressing to common variable immunodeficiency only in few reported cases. We report the case of a Spanish female aged 22 and diagnosed of selective IgA deficiency, a long history of bronchitis, several episodes of pneumonia, bilateral bronchiectasis, normal IgG, IgM, IgG subclasses, and detectable pre-vaccination IgG antibodies against tetanus toxoid and Streptococcus pneumoniae. She was evaluated in our clinic in order to rule out common variable immunodeficiency. We observed good antibody response to tetanus toxoid, absence of circulating switched memory B cells, decreased response to pneumococcal polysaccharide antigens and a lack of response to Salmonella typhi vaccine. Most SIgAD patients presents with upper respiratory tract infections or mild diarrhea. Those with lower tract infections, pneumonia or untreatable diarrhea should follow B-cell subpopulations' study and antibody response to vaccines. Absence of response to Salmonella typhi vaccine allowed us to expose the defective antibody production.
Ravelosaona, Fanomezantsoa Noella; Razafimahefa, Julien; Randrianasolo, Rahamefy Odilon; Rakotoarimanana, Solofonirina; Tehindrazanarivelo, Djacoba Alain
Broad ischemic stroke is mainly due to a cardiac embolus or to an atheromatous plaque. In young subjects, one of the main causes of ischemic stroke (broad ischemic stroke in particolar) is embolic heart disease including infective endocarditis. Infective endocarditis is a contraindication against the anticoagulant therapy (which is indicated for the treatment of embolic heart disease complicated by ischemic stroke). One neurologic complications of infective endocarditis is ischemic stroke which often occurs in multiple sites. We here report the case of a 44-year old man with afebrile acute onset of severe left hemiplegia associated with a sistolic mitral murmur, who had fever in hospital on day 5 with no other obvious source of infection present. Brain CT scan showed full broad ischaemic stroke of the right middle cerebral artery territory and doppler ultrasound, performed after stroke onset, showed infective endocarditis affecting the small mitral valve. He was treated with 4 weeks of antibiotic therapy without anticoagulant therapy ; evolution was marked by the disappearance of mitral valve vegetations and by movement sequelae involving the left side of the body. In practical terms, our problem was the onset of the fever which didn't accompany or pre-exist patient's deficit, leading us to the misdiagnosis of ischemic stroke of cardioembolic origin. This case study underlines the importance of doppler ultrasound, in the diagnosis of all broad ischemic strokes, especially superficial, before starting anticoagulant therapy.
Kitterman, Natalie; Poms, Abby; Miller, Dave P.; Lombardi, Sandra; Farber, Harrison W.; Barst, Robyn J.
Objective To evaluate the rate of and potential risk factors for bloodstream infections (BSIs) using data from the REVEAL (Registry to Evaluate Early and Long-term Pulmonary Arterial Hypertension [PAH] Disease Management) REGISTRY®, which provides current information about patients with PAH. Patients and Methods Patients were enrolled from March 30, 2006, through December 8, 2009, and data on reported BSIs were collected through the third quarter of 2010. Bloodstream infection rates were calculated per 1000 patient-days of risk. Results Of 3518 patients enrolled, 1146 patients received intravenous (IV) prostanoid therapy for more than 1 day (no BSI, n=1023; ≥1 BSI, n=123; total BSI episodes, n=166). Bloodstream infections rates were significantly increased in patients receiving IV treprostinil vs IV epoprostenol (0.36 vs 0.12 per 1000 treatment days; P<.001), primarily due to gram-negative organisms (0.20 vs 0.03 per 1000 treatment days; P<.001). Multivariate analysis adjusting for age, causes of PAH, and year of BSI found that treatment with IV treprostinil was associated with a 3.08-fold increase (95% confidence interval, 2.05-4.62; P<.001) in BSIs of any type and a 6.86-fold increase (95% confidence interval, 3.60-13.07; P<.001) in gram-negative BSIs compared with treatment with IV epoprostenol. Conclusion Compared with IV epoprostenol therapy, treatment with IV treprostinil is associated with a significantly higher rate of gram-negative BSIs; observed differences in BSI rate did not seem to be due to any other analyzed factors. Trial Registration clinicaltrials.gov Identifier: NCT00370214 PMID:22883740
Shimada, Shino; Shimojima, Keiko; Okamoto, Nobuhiko; Sangu, Noriko; Hirasawa, Kyoko; Matsuo, Mari; Ikeuchi, Mayo; Shimakawa, Shuichi; Shimizu, Kenji; Mizuno, Seiji; Kubota, Masaya; Adachi, Masao; Saito, Yoshiaki; Tomiwa, Kiyotaka; Haginoya, Kazuhiro; Numabe, Hironao; Kako, Yuko; Hayashi, Ai; Sakamoto, Haruko; Hiraki, Yoko; Minami, Koichi; Takemoto, Kiyoshi; Watanabe, Kyoko; Miura, Kiyokuni; Chiyonobu, Tomohiro; Kumada, Tomohiro; Imai, Katsumi; Maegaki, Yoshihiro; Nagata, Satoru; Kosaki, Kenjiro; Izumi, Tatsuro; Nagai, Toshiro; Yamamoto, Toshiyuki
Monosomy 1p36 syndrome is the most commonly observed subtelomeric deletion syndrome. Patients with this syndrome typically have common clinical features, such as intellectual disability, epilepsy, and characteristic craniofacial features. In cooperation with academic societies, we analyzed the genomic copy number aberrations using chromosomal microarray testing. Finally, the genotype-phenotype correlation among them was examined. We obtained clinical information of 86 patients who had been diagnosed with chromosomal deletions in the 1p36 region. Among them, blood samples were obtained from 50 patients (15 males and 35 females). The precise deletion regions were successfully genotyped. There were variable deletion patterns: pure terminal deletions in 38 patients (76%), including three cases of mosaicism; unbalanced translocations in seven (14%); and interstitial deletions in five (10%). Craniofacial/skeletal features, neurodevelopmental impairments, and cardiac anomalies were commonly observed in patients, with correlation to deletion sizes. The genotype-phenotype correlation analysis narrowed the region responsible for distinctive craniofacial features and intellectual disability into 1.8-2.1 and 1.8-2.2 Mb region, respectively. Patients with deletions larger than 6.2 Mb showed no ambulation, indicating that severe neurodevelopmental prognosis may be modified by haploinsufficiencies of KCNAB2 and CHD5, located at 6.2 Mb away from the telomere. Although the genotype-phenotype correlation for the cardiac abnormalities is unclear, PRDM16, PRKCZ, and RERE may be related to this complication. Our study also revealed that female patients who acquired ambulatory ability were likely to be at risk for obesity. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Li, Yafang; Xiao, Xiangjun; Ji, Xuemei; Liu, Bin
Lung adenocarcinoma is caused by the combination of genetic and environmental effects, and smoking plays an important role in the disease development. Exploring the gene expression profile and identifying genes that are shared or vary between smokers and nonsmokers with lung adenocarcinoma will provide insights into the etiology of this complex cancer. We obtained RNA-seq data from paired normal and tumor tissues from 34 nonsmoking and 34 smoking patients with lung adenocarcinoma (GEO: GSE40419). R Bioconductor, edgeR, was adopted to conduct differential gene expression analysis between paired normal and tumor tissues. A generalized linear model was applied to identify genes that were differentially expressed in nonsmoker and smoker patients as well as genes that varied between these two groups. We identified 2273 genes that showed differential expression with FDR<0.05 and |logFC| >1 in nonsmoker tumor versus normal tissues; 3030 genes in the smoking group; and 1967 genes were common to both groups. Sixty-eight and 70 % of the identified genes were downregulated in nonsmoking and smoking groups, respectively. The 20 genes such as SPP1, SPINK1, and FAM83A with largest fold changes in smokers also showed similar large and highly significant fold changes in nonsmokers and vice versa, showing commonalities in expression changes for adenocarcinomas in both smokers and nonsmokers for these genes. We also identified 175 genes that were significantly differently expressed between tumor samples from nonsmoker and smoker patients. Gene expression profile varied substantially between smoker and nonsmoker patients with lung adenocarcinoma. Smoking patients overall showed far more complicated disease mechanism and have more dysregulation in their gene expression profiles. Our study reveals pathogenetic differences in smoking and nonsmoking patients with lung adenocarcinoma from tran-scriptome analysis. We provided a list of candidate genes for further study for disease
Li, Yafang; Xiao, Xiangjun; Ji, Xuemei; Liu, Bin; Amos, Christopher I
Lung adenocarcinoma is caused by the combination of genetic and environmental effects, and smoking plays an important role in the disease development. Exploring the gene expression profile and identifying genes that are shared or vary between smokers and nonsmokers with lung adenocarcinoma will provide insights into the etiology of this complex cancer. We obtained RNA-seq data from paired normal and tumor tissues from 34 nonsmoking and 34 smoking patients with lung adenocarcinoma (GEO: GSE40419). R Bioconductor, edgeR, was adopted to conduct differential gene expression analysis between paired normal and tumor tissues. A generalized linear model was applied to identify genes that were differentially expressed in nonsmoker and smoker patients as well as genes that varied between these two groups. We identified 2273 genes that showed differential expression with FDR < 0.05 and |logFC| >1 in nonsmoker tumor versus normal tissues; 3030 genes in the smoking group; and 1967 genes were common to both groups. Sixty-eight and 70% of the identified genes were downregulated in nonsmoking and smoking groups, respectively. The 20 genes such as SPP1, SPINK1, and FAM83A with largest fold changes in smokers also showed similar large and highly significant fold changes in nonsmokers and vice versa, showing commonalities in expression changes for adenocarcinomas in both smokers and nonsmokers for these genes. We also identified 175 genes that were significantly differently expressed between tumor samples from nonsmoker and smoker patients. Gene expression profile varied substantially between smoker and nonsmoker patients with lung adenocarcinoma. Smoking patients overall showed far more complicated disease mechanism and have more dysregulation in their gene expression profiles. Our study reveals pathogenetic differences in smoking and nonsmoking patients with lung adenocarcinoma from transcriptome analysis. We provided a list of candidate genes for further study for disease
Crambert, A; Gauthier, J; Vignal, R; Conessa, C; Lombard, B
The authors report a case of invasive aspergillosis of a sphenoid sinus mucocele revealed in a patient with diabetes in Djibouti by homolateral palsy of the 3rd, 4th, 5th and 6th nerves. This rare condition occurs preferentially in immunodeficient subjects. Because of its clinical polymorphism, its diagnosis is difficult and is often not made until complications develop. Endonasal surgery with anatomopathological and mycological examination is both a diagnostic and therapeutic procedure. It must be performed early, to avoid functional or even life-threatening complications.
Wijesinghe, Rushika S; Wickremasinghe, Ananda R
Quality of life (QOL) was assessed in 141 filarial lymphedema patients and 128 healthy people in the Colombo district, Sri Lanka, by administering modified, translated, and validated (in Sri Lanka) versions of the Short Form 36 health survey questionnaire (SF-36) and the 30-item General Health questionnaire (GHQ-30). The GHQ-30 assesses the current mental health status. The SF-36 measures health on 8 multi-item dimensions covering functional state, well-being, and overall evaluation of health (physical functioning, role limitations resulting from physical health problems, role limitations resulting from emotional problems, energy/fatigue, emotional well-being, social functioning, pain and general health). By SF-36, patients experienced poorer physical functioning, more role limitations resulting from physical health conditions, less emotional well-being, poorer social functioning, and more pain than healthy individuals. By GHQ-30, mental well-being of healthy controls was significantly better than that of patients. The significant difference in the QOL as perceived by filarial lymphedema patients and healthy individuals reiterates the importance of morbidity control in patients affected by this disease.
Segal, F; Prolla, J C; Maguilnik, I; Wolff, F H
Bleeding ulcers are a major problem in public health and represent approximately half of all the cases of upper gastrointestinal hemorrhage in the United States. This study aims to determine the prognostic value of factors such as clinical history, laboratory and endoscopic findings in the occurrence of new episodes of bleeding in patients who have upper gastrointestinal hemorrhage caused by gastric or duodenal peptic ulcer. A cohort study with 94 patients was designed to investigate prognostic factors to the occurrence of new episodes of bleeding. From the 94 patients studied, 88 did not present a new bleeding episode in the 7 days following hospital admission. The incidence of rebleeding was significantly higher in those patients with hemoglobin < 6 g/dL at the admission (P = 0.03, RR = 6.2). The localization of the ulcers in bulb was positively associated to rebleeding (P = 0.003). The rebleeding group needed a greater number of units transfunded (P = 0.03) and the time of hospitalization was longer than the time of the hemostasia group (P = 0.0349). The identification of patients with risk of death by bleeding peptic ulcer remains as a challenge, once few factors are capable of predicting the severity of the evolution. The identification of such factors will allow the choice of the better therapeutic conduct improving the diagnosis and decreasing the rate of rebleeding and the mortality.
Sidorov, D V; Frank, G A; Mainovskaya, O A; Lozhkin, M V; Grishin, N A; Petrov, L O; Troitskiy, A A; Kirsanova, O N
This publication will describe our own experience of using the ERBEJET2(®) water-jet dissector during surgical interventions for rectal cancer. We utilized the water-jet dissection technique to obtain tissue specimens in 10 patients with rectal cancer. All patients thus underwent nerve-sparing low anterior resection of the rectum along with para-aortic lymphadenectomy. No intraoperative complications were registered. The postoperative period went uncomplicated in all patients. No dysuria was observed. Obtained tissue specimens were examined morphologically. Macroscopic examination included assessments of the preservation of the rectal fascia propria and the amount of cellular tissue along the anterior, posterior, and lateral surfaces of the rectum. We performed microscopy of the circumferential resection margin to characterize the surgical clearance and the intensity and depth of damage to the mesorectal tissue. On morphological examination, the quality of mesorectal excision was found to be good (Grade 3) in all 10 patients. As the results of our study demonstrate, the depth of lateral tissue damage is minimal with the water-jet dissector. Water-jet dissectors have their own place in the long list of armamentarium used in surgical interventions performed for rectal cancer and contribute to improving oncological and functional outcomes of surgical treatment in this patient population. Colorectal Disease © 2013 The Association of Coloproctology of Great Britain and Ireland.
O’Malley, Katherine J.; Eisermann, Kurtis; Pascal, Laura E.; Parwani, Anil V.; Majima, Tsuyoshi; Graham, Lara; Hrebinko, Katherine; Acquafondata, Marie; Stewart, Nicolas A.; Nelson, Joel B.; Yoshimura, Naoki; Wang, Zhou
BACKGROUND Benign prostatic hyperplasia (BPH) is an age-related disease frequently associated with lower urinary tract symptoms (LUTS) that involves hyperplasia of both epithelial and stromal cells. Stromal fibrosis is a distinctive feature of BPH, but the exact mechanisms underlying this phenomenon are poorly understood. METHODS In the current study, proteomics analyses were utilized to identify proteins altered in the BPH stromal compartment from patients with symptomatic BPH. Stromal cells were isolated from histological nodules of BPH by laser capture microdissection (LCM) and subjected to liquid chromatography/mass spectrometry. RESULTS Proteins identified included several stromal-specific proteins involved in extracellular matrix remodeling, focal adhesion and cellular junctions. Additionally, the proteomics array identified the presence of luminal epithelial secretory protein PSA. Immunostaining, ELISA, and in situ hybridization analyses of BPH tissues verified the presence of PSA protein but absence of PSA mRNA in the stromal compartment. E-cadherin was down-regulated in BPH epithelial cells compared to normal adjacent tissues, suggesting that alteration of cellular junctions could contribute to the presence of luminal epithelial secreted proteins PSA and KLK2 in the stromal compartment. CONCLUSIONS The above findings suggest that the presence of secreted proteins PSA and KLK2 from prostate luminal epithelial cells in BPH stroma is a hallmark of BPH nodules which could in part be due to alterations in cellular junction proteins and/or increased epithelial barrier permeability. Elucidating the cause and consequence of these secreted proteins in the stromal compartment of BPH may lead to new understanding of BPH pathogenesis as well as approaches to prevent and/or treat this common disease. PMID:24711254
The purpose of this study was to reconstruct the psychological state of suicidal subjects at the time of the execution of the gesture according to their thoughts, their emotions, their actions, their fantasy life and consciousness. Thirty-three adult subjects agreed, just days after their suicide attempt, to answer the Interview Method for Suicidal Acts (IMSA). This object of this semi-structured interview is to invite the suicidal to reconstruct mentally and chronologically their suicide attempt. IMSA can follow the thoughts, behavior, consciousness, emotions and activity of the suicidal scenario by helping the patient to reconstruct the phenomenology of his/her actions until the final suicidal gesture. The data were processed using the method of Classification TwoStep on SPSS, based on Schwarz Bayesian criterion. The results highlight three main types of psychological state: (1) a "kinesthetic" psychological state (called "type K") is characterized by a rupture between the subjective sensation of motor movement and effective motility (motor automatism), the presence of a dissociative state, an "empty" feeling of thought and the absence of an external triggering factor; (2) a "cognitive" psychological state (called "type C") is characterized by a significant reflection on the decision to die and infiltration of the morbid thought, an intense fantasy life around the suicidal scenario, a clear state of consciousness, and an absence of loss of motor control; (3) an "emotional" psychological state (called "type E") is characterized by confusing and chaotic emotional processes, the emergence of a dissociative state, and a significant impact of external events on the onset of the suicide attempt. This classification of suicide attempts allows us to identify the different combinations of the suicidal process and opens up new therapeutic strategies. Copyright © 2013 L’Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.
Luijt, R.B. van der; Khan, P.M.; Tops, C.M.J.
The adenomatous polyposis coli (APC) gene plays an important role in colorectal carcinogenesis. Germline APC mutations are associated with familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer, characterized by the development of numerous adenomatous polyps in the large intestine. In order to investigate whether somatic inactivation of the remaining APC allele is necessary for adenoma formation, we collected multiple adenomatous polyps from individual FAP patients and investigated the presence of somatic mutations in the APC gene. The analysis of somatic APC mutations in these tumor samples was performed using a rapid and sensitive assay, called the protein truncation test (PTT). Chain-terminating somatic APC mutations were detected in the great majority of the tumor samples investigated. As expected, these mutations were mainly located in the mutation cluster region (MCR) in exon 15. Our results confirm that somatic mutation of the second APC allele is required for adenoma formation in FAP. Interestingly, in the polyps investigated in our study, the second APC allele is somatically inactivated through point mutation leading to a stop codon rather than by loss of heterozygosity. The observation that somatic second hits in APC are required for tumor development in FAP is in apparent accordance with the Knudson hypothesis for classical tumor suppressor genes. However, it is yet unknown whether chain-terminating APC mutations lead to a truncated protein exerting a dominant-negative effect or whether these mutations result in a null allele. Further investigation of this important issue will hopefully provide a better understanding of the mechanism of action of the mutated APC alleles in colorectal carcinogenesis.
Vander Heiden, Jason A; Stathopoulos, Panos; Zhou, Julian Q; Chen, Luan; Gilbert, Tamara J; Bolen, Christopher R; Barohn, Richard J; Dimachkie, Mazen M; Ciafaloni, Emma; Broering, Teresa J; Vigneault, Francois; Nowak, Richard J; Kleinstein, Steven H; O'Connor, Kevin C
Myasthenia gravis (MG) is a prototypical B cell-mediated autoimmune disease affecting 20-50 people per 100,000. The majority of patients fall into two clinically distinguishable types based on whether they produce autoantibodies targeting the acetylcholine receptor (AChR-MG) or muscle specific kinase (MuSK-MG). The autoantibodies are pathogenic, but whether their generation is associated with broader defects in the B cell repertoire is unknown. To address this question, we performed deep sequencing of the BCR repertoire of AChR-MG, MuSK-MG, and healthy subjects to generate ∼518,000 unique VH and VL sequences from sorted naive and memory B cell populations. AChR-MG and MuSK-MG subjects displayed distinct gene segment usage biases in both VH and VL sequences within the naive and memory compartments. The memory compartment of AChR-MG was further characterized by reduced positive selection of somatic mutations in the VH CDR and altered VH CDR3 physicochemical properties. The VL repertoire of MuSK-MG was specifically characterized by reduced V-J segment distance in recombined sequences, suggesting diminished VL receptor editing during B cell development. Our results identify large-scale abnormalities in both the naive and memory B cell repertoires. Particular abnormalities were unique to either AChR-MG or MuSK-MG, indicating that the repertoires reflect the distinct properties of the subtypes. These repertoire abnormalities are consistent with previously observed defects in B cell tolerance checkpoints in MG, thereby offering additional insight regarding the impact of tolerance defects on peripheral autoimmune repertoires. These collective findings point toward a deformed B cell repertoire as a fundamental component of MG. Copyright © 2017 by The American Association of Immunologists, Inc.
Montagnese, Federica; Barca, E; Musumeci, O; Mondello, S; Migliorato, A; Ciranni, A; Rodolico, C; De Filippi, P; Danesino, C; Toscano, A
Pompe disease is a rare metabolic disorder, due to mutations in the gene encoding acid alpha-glucosidase (GAA), of which infantile and late-onset forms may occur. Aim of the work was to analyze clinical and laboratory data of a cohort of late-onset Pompe disease (LOPD) patients, collected during the last 15 years and to point out unusual phenotypic/genotypic features as well as enzyme replacement therapy (ERT) responses. We diagnosed 30 LOPD patients; at follow-up, they underwent motor, respiratory, cardiac and muscle MRI evaluations. Motor performances were tested by Walton Gardner-Medwin, GSGC and 6MWT tests. Respiratory function was assessed as FVC% in upright/supine position. LOPD presentations were represented by presymptomatic hyperCKemia (37%), proximal/axial muscle weakness (53%) and respiratory impairment (10%). Median diagnostic delay was 8.6 years (± 8.8). Atypical features were observed in 4 patients: marked distal muscle weakness and severe hearing loss at onset, as well as leukoencephalopathy and mesial temporal sclerosis during the disease course. By GAA sequence analysis, two causing mutations were detected in 22/30 patients, only one in the remaining 8 subjects. Overall, 29/30 patients harbored the common c.-32-13T>G mutation (2 were homozygous). Two new DNA variations were discovered (c.2395C>G, c.1771C>T). 14 patients received ERT for up to 60 months. Our study confirms LOPD clinical and genetic heterogeneity: atypical features may contribute to expand the clinical phenotype highlighting its multi-systemic nature. A timely diagnosis could allow early ERT start. An accurate follow-up is recommended to evaluate treatment responses.
Bayat, M; Abbasi, A J; Noorbala, A A; Mohebbi, S Z; Moharrami, M; Yekaninejad, M S
This case-control study aimed to compare patients with temporomandibular disorders (TMD) and healthy controls in terms of oral health-related quality of life (OHRQoL) considering Graded Chronic Pain Scale (GCPS) scores, pain duration, psychological impairment and demographic characteristics. A total of 75 patients with TMD and 75 healthy controls were recruited. The short version of Oral Health Impact Profile (OHIP-14) was administered for evaluating the OHRQoL. Psychosocial impairments were assessed using the General Health Questionnaire-28 (GHQ-28). The Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) axis I and II were also used for patient diagnosis and collecting GCPS scores, pain duration, age and gender. Independent-sample t tests, Pearson's chi-square tests and multiple logistic and linear regression models were applied for statistical analysis. The mean age of the patients was 34.3±12.4 years. A female-to-male ratio of 6:1 was seen in the TMD group. The prevalence and severity of the OHIP were significantly different between the TMD and control groups (66.7% vs 12.0% and 18.0 vs 9.2, respectively). According to multiple logistic regression for OHIP prevalence and multiple linear regression for OHIP severity in the TMD group, GCPS scores and pain duration, followed by psychological impairment, were the most important predictors of the OHRQoL. TMD negatively affected the OHRQoL, particularly in patients with psychological impairments. Meanwhile, age and gender did not seem to have a serious effect. Hence, promoting the quality of