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21.
Janse AJ Sinnema G Uiterwaal CS Kimpen JL Gemke RJ 《Acta paediatrica (Oslo, Norway : 1992)》2008,97(8):1118-1124
AIM: Quality of life assessments can be helpful to estimate the well-being of chronically ill children. The aim of this study was to investigate the differences in perception of health-related quality of life (HRQoL) among children, parents and paediatricians at the time of diagnosis and after initial treatment in four chronic diseases. METHODS: HRQoL was assessed with the Health Utilities Index mark 3 (HUI3). The HUI3 consists of eight attributes (vision, hearing, speech, ambulation, dexterity, emotion, cognition and pain). RESULTS: Nineteen paediatricians and 60 patients (aged 10-17 years) and their parents with newly diagnosed acute lymphoblastic leukaemia, juvenile idiopathic arthritis, asthma or with cystic fibrosis admitted for pneumonia participated in the study. Health and well-being perceptions were clearly different among paediatricians, parents and patients, both at diagnosis and after initial treatment. Perception differences were more prominent in the subjective attributes, emotion and pain. The agreement for these attributes was 23% and 5%, respectively. Paediatricians assessed the patients to have less pain than the patients and parents did. The reverse was true for the attribute emotion. At follow-up, the agreement was higher for the attributes ambulation and pain. CONCLUSION: At the onset of a chronic disease and after initial treatment, paediatricians, parents and children have different perceptions of the child's quality of life, particularly as to the subjective attributes pain and emotion. In view of these differences in perception among patients, their caregivers and paediatricians, this study suggests that whenever possible, multi-respondent assessment of HRQoL should be considered. 相似文献
22.
23.
Margje Sinnema Kees E P van Roozendaal Marian A Maaskant Hubert J M Smeets John J M Engelen Nieke Jonker-Houben Constance T R M Schrander-Stumpel Leopold M G Curfs 《European journal of human genetics : EJHG》2010,18(9):993-998
The Prader–Willi syndrome (PWS) is a genetic disorder caused by the absent expression of the paternal copy of maternally imprinted genes in chromosome region 15q11–13. The frequencies of different subtypes in PWS are usually given in literature as 70% deletion, 25–30% maternal uniparental disomy (mUPD) and 3–5% others (imprinting centre (IC) defects and translocations). Little is known about factors that influence the frequency of genetic subtypes in PWS. The study sample comprised 102 adults with clinically and genetically confirmed PWS, contacted through the Dutch Prader–Willi Parent Association and through physicians specialized in treating persons with intellectual disabilities. Genetic testing showed 55 persons (54%) with a paternal deletion, 44 persons (43%) with an mUPD and 3 persons (3%) with a defect of the IC. The observed distribution in our study differed from that in literature (70% deletion, 30% mUPD), which was statistically significant (z-score: P<0.05). This was mainly caused by a higher proportion of mUPD in the advanced age groups. Differences in maternal age and BMI of persons with PWS could not explain the differences in distribution across the age groups. Our study population had a much broader age range, compared with other studies, because of a predominance of elderly people (40+ years) with PWS. In other studies, these elderly persons might have been undiagnosed and/or underreported because of a lack of genetic diagnosis. The results underline both the need for correct genetic diagnosis in all persons with PWS and adjustment of the guidelines for preventive management in adulthood. 相似文献
24.
Margje Sinnema Marian A. Maaskant Henny M.J. van Schrojenstein Lantman-de Valk Harm Boer Leopold M.G. Curfs Constance T.R.M. Schrander-Stumpel 《European journal of medical genetics》2013,56(8):397-403
IntroductionAdults with Prader–Willi syndrome (PWS) have an increased occurrence of several medical conditions. We report on the consequences of high morbidity rates such as prevalence rate of hospital admissions, medication use and surgery in a Dutch cohort of adults with PWS. Special attention is paid to causes and symptoms of serious illness.MethodParticipants were contacted via the Dutch Prader–Willi Parent Association and through physicians specializing in persons with ID. The persons with PWS and their main caregivers were visited at home. Information was collected through semi-structured interviews on 102 adults with PWS.ResultsThe need for medical care in the neonatal period is associated with hypotonia and feeding problems. Hospital admissions for respiratory tract infections are frequent. During childhood most hospital admissions were due to PWS syndrome specific surgery. During adolescence hospital admissions occurred for scoliosis surgery and endocrine evaluations. At adult age, hospitalization was associated with inguinal hernia surgery, diabetes mellitus, psychosis, erysipelas, water and drug intoxications. In the older group, respiratory infections were again the main reason for hospital admissions. Frequently used medications at adult age included psychotropics, laxatives, anti-diabetics and dermatologic preparations. Abnormal drinking patterns, problems with anesthesia, decreased ability to vomit, abnormal pain awareness and unpredictable fever responses were frequent and often lead to delayed diagnoses of serious conditions.DiscussionPeople with PWS are frequent users of medical-care. Reasons for hospitalization and medication use are age specific. Knowledge on the different presentation of symptoms in people with PWS is needed. In case of unexplained illness, disturbances of consciousness and behavioral changes in people with PWS, an infection should be ruled out in the first place. Information from this study may help in preventing conditions and recognizing conditions in an early stage. Adequate preventive management and treatment of PWS related morbidity, could reduce medical care use in the long term and could improve quality adjusted life years. 相似文献
25.
Wietse Kuis Catherine C.E. de Jong-de Vos van Steenwijk Gerben Sinnema Annemieke Kavelaars Berent Prakken Paul J.M. Helders Cobi J. Heijnen 《Brain, behavior, and immunity》1996,10(4):387-398
This study demonstrates that juvenile rheumatoid arthritis is associated with a dysregulation of the autonomic nervous system as well as with disturbances in the capacity of the immune system to respond to mediators of the autonomic nervous system. In patients with active disease heart rate at rest is higher than in healthy controls. In addition, 3-hydroxy-4-phenoxyphenylglycol levels in urine are higher in all patients than in the control group. Cardiovascular responses to an orthostatic stress test (tilt up) are reduced in patients with active and nonactive disease. Plasma norepinephrine responses to tilt up are reduced in subjects with active juvenile rheumatoid arthritis. In summary, our data show that patients with juvenile rheumatoid arthritis have an altered function of the autonomic nervous system associated with increased central noradrenergic outflow, presumably leading to increased vasoconstriction, resulting in a decreased response to an orthostatic stressor. The altered function of the autonomic nervous system is associated with changes in the response of leukocytes to mediators of the autonomic nervous system via β2-adrenergic receptors. Leukocytes of patients with active juvenile rheumatoid arthritis have a lower cAMP response to a β2-adrenergic agonist, presumably due to increased cAMP–phosphodiesterase activity in these cells. 相似文献
26.
Marie Barais Johannes Hauswaldt Geert-Jan Dinant Margje van de Wiel C. F. Stolper Paul Van Royen 《The European journal of general practice》2017,23(1):53-56
The role of gut feelings in diagnostic reasoning is recognized by most GPs throughout Europe, and probably throughout the world. Studies on this topic have emerged from different countries but there is the risk that authors will use different terms for similar concepts. The European Expert Group on Cognitive and Interactive Processes in Diagnosis and Management in General Practice, COGITA for short, was founded in 2008 to conduct cross-border research in the area of non-analytical diagnostic reasoning. Academic GPs, PhD students, psychologists, linguists and students meet once a year to share their experiences, exchange results and initiate new studies on the topic. A milestone in their research is this publication of a short glossary of diagnostic reasoning terms relating to the gut feelings research topic. It was constructed by the COGITA group members following a literature review, which aimed to define salient terms used in their publications. They described the terms, cross-reviewed the wording and reached consensus within the group. Two sections were created: (1) a diagnostic reasoning section that describes concepts such as analytical and non-analytical reasoning, clinical mind lines, and intuition, and (2) a research methods section describing concepts such as linguistic validity and saturation. The glossary, including relevant literature, has been published on the website http://www.gutfeelingsingeneralpractice.eu. In the future, the glossary will be modified if necessary and completed by members of the COGITA group. 相似文献
KEY MESSAGE
A glossary of diagnostic reasoning terms relating to gut feelings research was constructed by the COGITA group to define salient terms, used in their publications. It is a prerequisite to conduct further cross-border research into gut feelings in family medicine. The development of the glossary is ongoing.
27.
Jung-Hyun Kim Eun Young Park David Chitayat David L. Stachura Jörg Schaper Kristin Lindstrom Tamison Jewett Dagmar Wieczorek Jos M. Draaisma Margje Sinnema Christianne Hoeberigs Maja Hempel Kristine K. Bachman Andrea H. Seeley Joshua K. Stone Hyun Kyung Kong Lana Vukadin Alexander Richard Eun-Young Erin Ahn 《Kidney international》2019,95(6):1494-1504
28.
Polymerase chain reaction and Goldmann-Witmer coefficient analysis are complimentary for the diagnosis of infectious uveitis 总被引:2,自引:0,他引:2
De Groot-Mijnes JD Rothova A Van Loon AM Schuller M Ten Dam-Van Loon NH De Boer JH Schuurman R Weersink AJ 《American journal of ophthalmology》2006,141(2):313-318
PURPOSE: To determine the relative contribution of the analysis of intraocular antibody production and the polymerase chain reaction (PCR) in aqueous humor (AH) to the diagnosis of infectious uveitis. DESIGN: Retrospective case-control study. METHODS: Paired AH and serum samples from 230 patients suspected of infectious uveitis were examined for intraocular antibody production against herpes simplex virus (HSV), varicella zoster virus (VZV), and Toxoplasma gondii by calculating the Goldmann-Witmer coefficient (GWC). In addition, AH samples were investigated by real-time PCR to determine the presence of microbial DNA. RESULTS: Positive results were obtained in 54 cases (23%): 13 HSV (24%), 16 VZV (30%), and 25 T gondii (46%). Of these, 23 (43%) were positive for both GWC and PCR, 26 (48%) only for GWC, and 5 (9%) only for PCR. With PCR as the sole diagnostic approach, a correct diagnosis of the infectious etiology would have been missed in 34% of cases for the herpes viruses and in 64% for T gondii. Analysis of the relationship between a positive laboratory diagnosis and the time of sampling after onset of ocular disease demonstrated that intraocular antibody production was found throughout the course of the diseases. Viral DNA was more readily detected early in infection. In contrast, T gondii nucleic acid was not detected until 3 weeks after onset of ocular disease. CONCLUSIONS: Analysis of intraocular antibody production contributed considerably to the etiological diagnosis of infectious uveitis, most notably of ocular toxoplasmosis early after onset of disease. Therefore, both PCR and GWC determination might be performed for comprehensive diagnosis of intraocular infections. 相似文献
29.
The psychological and social functioning of 14 children and 12 adolescents after Ilizarov leg lengthening 总被引:2,自引:0,他引:2
Ruth R. Ramaker Suzanne W. J. Lagro Peter M. van Roermund Gerben Sinnema 《Acta orthopaedica》2000,71(1):55-59
We studied the psychological and social impact of the Ilizarov leg lengthening procedure in 26 patients (aged 6-17 years), who had completed the treatment at least 2 months previously. Measurements of depression and anxiety were performed preoperatively and at follow-up. Questions about functioning at school, daily life activities and treatment-related experiences were answered by the patient and his/her parents. The school or work results showed no significant decline during the lengthening procedure. Serious sleeping problems occurred during the procedure. There was no subjective improvement in physical skill after the procedure and almost one-fourth of the children still had complaints about their leg. We conclude that the Ilizarov procedure caused no serious psychological disturbances. 相似文献
30.
Summary This study considers the range of thinking about end-of-life decisions (ELD) in France from a Dutch point of view, taking
a small number of interviews with important French opinion-leaders as a basis. Until today, end-of-life care in France has
been clouded with uncertainty pending the enactment of more specific definitions and regulations. French physicians could
face a dilemma in treating a dying patient, caught between an official ban on ELD and a professional obligation to treat cases
individually. The practical consequence of this climate is a lack of accountability of the French physician towards colleagues
and patients. Rationalistic, paternalistic, and religious traditions have been obstructive to the adoption of regulatory reforms.
In November 2004, Parliament accepted a law proposal by which the practice of the withholding and withdrawal of life-saving
therapies would become more transparent, which would diminish the physician’s fear of legal persecution. This proposal was
then converted into law by the Senate. In the Netherlands, euthanasia – the active termination of life – is legal and regulated
according to specific criteria. The Dutch approach has been shaped by an Anglo-Saxon emphasis on individual autonomy, and
conforms to a broad preference in Dutch society to disclose and regulate controversial activities rather than to tolerate
them sub rosa. As the Dutch regulations have been enacted, reporting rates – but not euthanasia cases – have risen. Compliance
with the criteria and doctor–patient communication have been high. The French vigilance of professional autonomy provides
a valuable example to the Dutch. The Dutch, in return, offer the French concrete examples for ELD policy.
J.J.M. van Delden is Professor of Medical Ethics at the University Medical Center in Utrecht, the Netherlands. 相似文献