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2.
Orphanet J Rare Dis ; 19(1): 62, 2024 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-38347616

RESUMO

BACKGROUND: In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients with rare neurological diseases (RND) in all age groups. Since then a dynamic national network for rare neurological disorders has been established comprising renowned experts in neurology, pediatric neurology, (neuro-) genetics and neuroradiology. DASNE has successfully implemented case presentations and multidisciplinary discussions both at yearly symposia and monthly virtual case conferences, as well as further educational activities covering a broad spectrum of interdisciplinary expertise associated with RND. Here, we present recommendation statements for optimized personalized management of patients with RND, which have been developed and reviewed in a structured Delphi process by a group of experts. METHODS: An interdisciplinary group of 37 RND experts comprising DASNE experts, patient representatives, as well as healthcare professionals and managers was involved in the Delphi process. First, an online collection was performed of topics considered relevant for optimal patient care by the expert group. Second, a two-step Delphi process was carried out to rank the importance of the selected topics. Small interdisciplinary working groups then drafted recommendations. In two consensus meetings and one online review round these recommendations were finally consented. RESULTS: 38 statements were consented and grouped into 11 topics: health care structure, core neurological expertise and core mission, interdisciplinary team composition, diagnostics, continuous care and therapy development, case conferences, exchange / cooperation between Centers for Rare Diseases and other healthcare partners, patient advocacy group, databases, translation and health policy. CONCLUSIONS: This German interdisciplinary Delphi expert panel developed consented recommendations for optimal care of patients with RND in a structured Delphi process. These represent a basis for further developments and adjustments in the health care system to improve care for patients with RND and their families.


Assuntos
Doenças do Sistema Nervoso , Neurologia , Criança , Humanos , Doenças Raras/terapia , Atenção à Saúde , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/terapia , Consenso
3.
Schmerz ; 38(1): 12-18, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38189943

RESUMO

BACKGROUND: The clinical picture of people with Ehlers-Danlos syndromes (EDS) is complex and involves a variety of potential causes of pain. This poses major challenges to patients and healthcare professionals alike in terms of diagnosis and management of the condition. OBJECTIVES: The aim of the article was to provide an overview of the specific pain management needs of patients with EDS and address their background. MATERIAL AND METHODS: A selective literature search was performed to highlight the current state of research on pain management in EDS patients. RESULTS: Affected patients require multimodal pain management considering their individual needs, disease-specific features, and comorbidities. CONCLUSION: Medical awareness and evidence need to be further improved to enhance the medical care situation of these patients with complex needs.


Assuntos
Síndrome de Ehlers-Danlos , Instabilidade Articular , Humanos , Instabilidade Articular/diagnóstico , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/terapia , Dor , Comorbidade , Manejo da Dor
4.
Schmerz ; 38(1): 33-40, 2024 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-38197939

RESUMO

BACKGROUND: Neuropathic pain is difficult to diagnose and treat. Small fiber neuropathy (SFN) flies under the radar of nerve conduction studies. OBJECTIVES: The importance of a structured patient history and physical examination in the context of neuropathic pain is emphasized. Describing SFN as an important cause, the authors consider rare but partially treatable differential diagnoses. They conclude that autonomic symptoms are frequently associated, often presenting with diverse symptoms. METHODS: A selective literature research to present SFN symptoms as well as differential diagnostic and therapeutic steps in the context of SFN and rare diseases focusing on the autonomic nervous system. RESULTS: Neuropathic pain significantly reduces quality of life. To shorten the time until diagnosis and to initiate therapy, the authors recommend a structured patient history including sensory plus and minus symptoms and non-specific autonomic signs. If the initial search for the cause is not successful, rare causes such as treatable transthyretin (ATTR) amyloidosis and Fabry's disease or autoimmune causes should be considered, particularly in the case of progressive and/or autonomic symptoms. CONCLUSION: The diagnosis and therapy of rare SFN requires interdisciplinary collaboration and, in many cases, a referral to specialized centers to achieve the best patient care.


Assuntos
Neuralgia , Neuropatia de Pequenas Fibras , Humanos , Neuropatia de Pequenas Fibras/diagnóstico , Neuropatia de Pequenas Fibras/terapia , Qualidade de Vida , Doenças Raras/complicações , Neuralgia/diagnóstico , Neuralgia/etiologia , Neuralgia/terapia , Sistema Nervoso Autônomo
5.
Schmerz ; 38(1): 19-27, 2024 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-38165492

RESUMO

BACKGROUND: Rare diseases are often recognized late. Their diagnosis is particularly challenging due to the diversity, complexity and heterogeneity of clinical symptoms. Computer-aided diagnostic aids, often referred to as diagnostic decision support systems (DDSS), are promising tools for shortening the time to diagnosis. Despite initial positive evaluations, DDSS are not yet widely used, partly due to a lack of integration with existing clinical or practice information systems. OBJECTIVE: This article provides an insight into currently existing diagnostic support systems that function without access to electronic patient records and only require information that is easily obtainable. MATERIALS AND METHODS: A systematic literature search identified eight articles on DDSS that can assist in the diagnosis of rare diseases with no need for access to electronic patient records or other information systems in practices and hospitals. The main advantages and disadvantages of the identified rare disease diagnostic support systems were extracted and summarized. RESULTS: Symptom checkers and DDSS based on portrait photos and pain drawings already exist. The degree of maturity of these applications varies. CONCLUSION: DDSS currently still face a number of challenges, such as concerns about data protection and accuracy, and acceptance and awareness continue to be rather low. On the other hand, there is great potential for faster diagnosis, especially for rare diseases, which are easily overlooked due to their large number and the low awareness of them. The use of DDSS should therefore be carefully considered by doctors on a case-by-case basis.


Assuntos
Inteligência Artificial , Doenças Raras , Humanos
6.
Oral Maxillofac Surg ; 28(1): 373-383, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37099046

RESUMO

PURPOSE: Adult idiopathic condylar resorption (AICR) mainly affects young women, but generally accepted diagnostic standards are lacking. Patients often need temporomandibular joint (TMJ) surgery, and often jaw anatomy is assessed by CT as well as MRI to observe both bone and soft tissue. This study aims to establish reference values for mandible dimensions in women from MRI only and correlate them to, e.g., laboratory parameters and lifestyle, to explore new putative parameters relevant in AICR. MRI-derived reference values could reduce preoperative effort by allowing physicians to rely on only the MRI without additional CT scan. METHODS: We analyzed MRI data from a previous study (LIFE-Adult-Study, Leipzig, Germany) of 158 female participants aged 15-40 years (as AICR typically affects young women). The MR images were segmented, and standardized measuring of the mandibles was established. We correlated morphological features of the mandible with a large variety of other parameters documented in the LIFE-Adult study. RESULTS: We established new reference values for mandible morphology in MRI, which are consistent with previous CT-based studies. Our results allow assessment of both mandible and soft tissue without radiation exposure. Correlations with BMI, lifestyle, or laboratory parameters could not be observed. Of note, correlation between SNB angle, a parameter often used for AICR assessment, and condylar volume, was also not observed, opening up the question if these parameters behave differently in AICR patients. CONCLUSION: These efforts constitute a first step towards establishing MRI as a viable method for condylar resorption assessment.

8.
Orphanet J Rare Dis ; 18(1): 334, 2023 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-37872625

RESUMO

BACKGROUND: The median arcuate ligament syndrome (MALS) is a rare disease caused by compression of the celiac artery (ORPHA: 293208). Surgical treatment of MALS aims to restore normal celiac blood flow by laparoscopic celiac artery decompression. However, surgical success rates vary widely between patients, therefore adequate selection of patients is essential to improve surgical outcome. Symptoms of MALS might also overlap with other chronic multi-system disorders such as mast cell activation syndrome (MCAS). So far, no clinical or radiological parameter was found to be predictive of the postoperative outcome. We, therefore, aim to study preclinical parameters in one of the largest MALS cohorts with the focus to identify patients that would benefit from surgical MAL release. RESULTS: By analyzing 20 MALS patients that underwent surgical celiac artery decompression, we found 60% of patients (12/20) had a postoperative relief of their symptoms and a simultaneous decrease of analgetic use. No demographic, radiologic or operative parameter was able to predict postoperative symptom relief. However, mast cell activation syndrome correlated significantly (p = 0.04) with persistent symptoms after the operation. CONCLUSIONS: Overall, laparoscopic MAL release can provide immediate symptomatic relief. Despite the missing predictive value of demographic and imaging data, our data show a correlation between persistent symptoms and a co-existing mast cell activation syndrome. This suggests that MCAS symptoms might be interpreted as MALS symptoms in the presence of celiac artery stenosis and therefore surgical treatment should be evaluated carefully. Overall, the selection of patients who are most likely to respond to surgical MAL release may best be accomplished by an interdisciplinary team of gastroenterologists, radiologists and surgeons.


Assuntos
Síndrome da Ativação de Mastócitos , Síndrome do Ligamento Arqueado Mediano , Humanos , Síndrome do Ligamento Arqueado Mediano/cirurgia , Síndrome do Ligamento Arqueado Mediano/complicações , Síndrome do Ligamento Arqueado Mediano/diagnóstico , Artéria Celíaca/cirurgia , Prognóstico , Descompressão
9.
Indian J Palliat Care ; 29(3): 256-265, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37700894

RESUMO

Objectives: Fatigue is a frequent and burdensome symptom in patients with advanced disease in palliative care. However, it is under-assessed and undertreated in clinical practice, even though many treatment options have been identified in systematic reviews. Care pathways with defined and standardised steps have been recommended for effective management in the clinical setting. This paper describes a care pathway for managing fatigue in palliative care patients. This study aims to develop a care pathway with detailed guidance for screening, assessment, diagnosis, and treatment of fatigue in palliative care patients. Material and methods: A collaborative effort of multidisciplinary clinicians participated in constructing the care pathway. The care pathway was developed using the following steps: (a) Developing an intervention; (b) piloting and feasibility; (c) evaluating the intervention; (d) reporting; and (e) implementation. This paper covers the first step, which includes the evidence base identification, theory identification/development, and process/outcomes modeling. A literature search was conducted to understand the extent of the fatigue problem in the palliative care setting and identify existing guidelines and strategies for managing fatigue. Consistent recommendations emanating from the included papers were then contributed to a care pathway. Patient representatives and palliative care professionals provided feedback on the draft. Results: The care pathway address the following care processes: (1) Screening for the presence of fatigue; (2) assessment to evaluate the severity of fatigue; (3) diagnostic procedure, including history, physical examination, and laboratory finding; (4) therapeutic management pathway for clinical decision-making; and (5) valuation of treatment effect, using questionnaires, diaries and physical activity monitoring with body-worn sensors. Conclusion: The development of a care pathway will help to implement regular and structured assessment, diagnosis, and treatment of fatigue for healthcare professionals treating palliative care patients. Reviewing the pathway with a multidisciplinary expert group and field testing the pathway will be the next steps toward implementation.

10.
Palliat Med ; 37(8): 1044-1046, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37706469
11.
medRxiv ; 2023 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-37503210

RESUMO

The value of computer-assisted image analysis has been shown in several studies. The performance of tools with artificial intelligence (AI), such as GestaltMatcher, is improved with the size and diversity of the training set, but properly labeled training data is currently the biggest bottleneck in developing next-generation phenotyping (NGP) applications. Therefore, we developed GestaltMatcher Database (GMDB) - a database for machine-readable medical image data that complies with the FAIR principles and improves the openness and accessibility of scientific findings in Medical Genetics. An entry in GMDB consists of a medical image such as a portrait, X-ray, or fundoscopy, and machine-readable meta information such as a clinical feature encoded in HPO terminology or a disease-causing mutation reported in HGVS format. In the beginning, data was mainly collected by curators gathering images from the literature. Currently, clinicians and individuals recruited from patient support groups provide their previously unpublished data. For this patient-centered approach, we developed a digital consent form. GMDB is a modern publication medium for case reports that complements preprints, e.g., on medRxiv. To enable inter-cohort comparisons, we implemented a research feature in GMDB that computes the pairwise syndromic similarity between hand-picked cases. Through a community-driven effort, we compiled an image collection of over 7,533 cases with 792 disorders in GMDB. Most of the data was collected from 2,058 publications. In addition, about 1,018 frontal images of 498 previously unpublished cases were obtained. The web interface enables gene- and phenotype-centered queries or infinite scrolls in the gallery. Digital consent has led to increasing adoption of the approach by patients. The research app within GMDB was used to generate syndromic similarity matrices to characterize two novel phenotypes (CSNK2B, PSMC3). GMDB is the first FAIR database for NGP, where data are findable, accessible, interoperable, and reusable. It is a repository for medical images that cannot be included in medRxiv. That means GMDB connects clinicians with a shared interest in particular phenotypes and improves the performance of AI.

12.
BMC Med Educ ; 23(1): 500, 2023 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-37415144

RESUMO

RATIONAL/AIMS AND OBJECTIVES: Ward rounds are a core routine for interprofessional communication and clinical care planning: Health care professionals and patients meet regularly and it encourages patients to actively participate. In paediatric oncology, the long treatment process, the serious diagnosis, and involvement of both patients and their parents in shared-decision-making require specific ward round skills. Despite its high value for patient-centred care, a universal definition of ward round is lacking. Little is known about attitudes and expectations of different participants towards a 'good' ward round. This study aims to capture experiences and expectations of different stakeholders to better understand ward round needs in paediatric oncology and serve as a basis to improve future ward rounds. METHOD: Semi-structured interviews were conducted with patients, parents, nurses and medical doctors of a paediatric oncology ward until theoretical saturation (13 interviews). A standardised qualitative analysis using the phenomenological framework defined by Colaizzi was used to identify important aspects in the interviews. RESULTS: Three major themes were identified in the interviews: [1] Structure and Organisation; [2] Communication; [3] Education. Further analysis revealed 23 categories and elucidated several opportunities and unmet needs recognized by stakeholders: Ward round functions in comforting families in stressful situations, and relationship building. Interviewees expressed their concerns about missing structures. Families pleaded for smaller ward round teams and layperson language. Health care professionals underscored the lack of ward round training. Paediatric patients stated that ward round scared them without proper explanation. All interviewees emphasized the need for professionalization of the ward round in the setting of paediatric oncology. CONCLUSION: This study gives important insights into ward round functions and organisational requirements. It addresses special challenges for ward round participants in paediatric oncology, such as consideration of the emotional aspect of cancer treatment or the limits of shared decision making. Furthermore, this study underscores the great significance of ward rounds in paediatric oncology, with an emphasis on communication and relationship-building. Although performed universally, ward rounds are poorly explored or evaluated. This structured analysis synthesizes important expectations of different WR stakeholders, revealing opportunities of improvement and stressing the need for guidelines, training, and preparation.


Assuntos
Neoplasias , Visitas com Preceptor , Humanos , Criança , Pesquisa Qualitativa , Comunicação , Pacientes , Neoplasias/terapia
13.
Dig Dis Sci ; 68(8): 3400-3412, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37029308

RESUMO

BACKGROUND: Mast cell activation syndrome (MCAS) is a clinically heterogeneous disease with allergy-like symptoms and abdominal complaints. Its etiology is only partially understood and it is often overlooked. AIMS: The aim of this study was to identify subgroups of MCAS patients to facilitate diagnosis and allow a personalized therapy. METHODS: Based on data from 250 MCAS patients, hierarchical and two-step cluster analyses as well as association analyses were performed. The data used included data from a MCAS checklist asking about symptoms and triggers and a set of diagnostically relevant laboratory parameters. RESULTS: Using a two-step cluster analysis, MCAS patients could be divided into three clusters. Physical trigger factors were particularly decisive for the classification as they showed remarkable differences between the three clusters. Cluster 1, labeled high responders, showed high values for the triggers heat and cold, whereas cluster 2, labeled intermediate responders, presented with high values for the trigger heat and low values for cold. The third cluster, labeled low responders, did not react to thermal triggers. The first two clusters showed more divers clinical symptoms especially with regard to dermatological and cardiological complaints. Subsequent association analyses revealed relationships between triggers and clinical complaints: Abdominal discomfort is mainly triggered by histamine consumption, dermatological discomfort by exercise, and neurological symptoms are related to physical exertion and periods of starvation. The reasons for the occurrence of cardiological complaints are manifold and triggers for respiratory complaints still need better identification. CONCLUSION: Our study identified three distinct clusters on the basis of physical triggers, which also differ significantly in their clinical symptoms. A trigger-related classification can be helpful in clinical practice for diagnosis and therapy. Longitudinal studies should be conducted to further understand the relationship between triggers and symptoms.


Assuntos
Síndrome da Ativação de Mastócitos , Mastocitose , Humanos , Mastocitose/diagnóstico , Temperatura Alta , Histamina/uso terapêutico , Mastócitos
15.
J Clin Nurs ; 32(9-10): 1979-1992, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-35191111

RESUMO

AIMS AND OBJECTIVES: Providing the first meta-analysis of risk factors for pressure ulcer development in adult patients. BACKGROUND: Pressure ulcers remain a serious health complication for patients and nursing staff. However, there is a lack of statistical evidence for risk factors as previous research did not include any quantitative synthesis. DESIGN: Meta-analysis, using PRISMA guidelines. METHODS: Studies from PubMed, Embase, CINAHL Complete, Web of Science, Cochrane Library, and other reviews and sources were screened and checked against the inclusion criteria. The risk of bias was evaluated using a slightly modified QUIPS tool. Data regarding population, design, statistical analysis and risk factors were extracted. Meta-analysis with comparable studies was conducted for age, sex, and Braden scale. The sub-group analysis was used to account for heterogeneity. RESULTS: 28 studies with 570,162 patients were entered in meta-analysis. Older age and a low total Braden scale score increased the risk for pressure ulcers. All subscales excluding 'moisture' reached significance in meta-analysis based only on few studies, however, limiting overall evidence. Male sex achieved mixed results, too. CONCLUSION: The first meta-analytic analysis shows evidence for age and Braden scale as risk factors for pressure ulcer development. Limitations regarding study quality and heterogeneity must be considered, highlighting the need for unifying certain conditions in risk factor research. RELEVANCE TO CLINICAL PRACTICE: Patients at risk for new pressure ulcers can be identified by their total Braden score and age, whereas the latter is also connected to deeper pressure ulcers. Nurses and health personnel should pay great attention to patients in older age and undergo specific training to utilise and evaluate the Braden scale effectively, if necessary.


Assuntos
Recursos Humanos de Enfermagem , Lesão por Pressão , Humanos , Adulto , Masculino , Lesão por Pressão/epidemiologia , Lesão por Pressão/etiologia , Fatores Sociodemográficos , Fatores de Risco , Medição de Risco/métodos
16.
Schmerz ; 37(1): 38-46, 2023 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-35038009

RESUMO

BACKGROUND: The present study aimed to assess the postoperative pain experience in cognitive deficit patients with special reference to sensory or affective pain quality. METHODS: Nineteen patients with normal cognition up to cognitive impairments according to the DemTect screening-tool were studied regarding their postoperative pain experience after proximal femur fracture. The numerical rating scale (NRS), the cognitive DemTect questionnaire, the pain sensation questionnaire (SES), and a quantitative sensory test (QST) were used as examination instruments. RESULTS: The mean ± SD age of the patients was 83.8 ± 10.0 years. Of the 19 patients, 6 (31.6%) had normal cognitive abilities. In 4 patients (21.1%) there were indications of mild cognitive impairments, and in 9 patients (47.4%) the suspicions of the presence of dementia arose. The mean postoperative pain intensity (NRS) was 4.0 (1.6). With comparable analgesic therapy, the reported pain intensities did not differ between the three patient groups with different cognitive impairments and the first three postoperative treatment days. There were no statistically significant differences between the groups for the sensory or affective total scores of the pain sensation scale. The QST parameters deep pain (PPT), superficial mechanical pain after needle stimulation (MPT), and the superficial sensitivity to light touch stimuli (MDT) showed a significantly increased sensitivity of the operated side. For the sensation of vibration (VDT) no differences between operated and healthy extremities could be proven. DISCUSSION: The postoperative pain experience does not differ between patients with normal and limited cognition. The quantitative sensory testing showed mechanical hyperalgesia in the operated area. The study points to the importance of adequate postoperative pain management even in those with dementia.


Assuntos
Demência , Fraturas Proximais do Fêmur , Humanos , Idoso , Idoso de 80 Anos ou mais , Limiar da Dor , Medição da Dor , Dor Pós-Operatória/diagnóstico , Dor Pós-Operatória/tratamento farmacológico
17.
Z Gastroenterol ; 61(3): 268-274, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35576976

RESUMO

BACKGROUND: Laboratory evidence supporting diagnosis of the prevalent condition of mast cell activation syndrome (MCAS) currently includes elevated levels in blood or urine of mediators relatively specific to mast cells (MCs) and/or increased numbers of MCs in luminal gastrointestinal (GI) tract tissues. However, identification of elevated mediators is technically challenging and expensive, and controversy persists regarding the normal ranges of numbers/counts of MCs in various GI tract segments, let alone challenges in determining how many of the visualized MCs are activated. To aid diagnosis of MCAS, we developed a potential new approach for the pathologist to identify the extent of GI tract MC activation easily and inexpensively. PARTICIPANTS AND METHODS: Visualization of MCs in gastrointestinal biopsies from 251 patients vs. 95 controls using antibodies against CD117 and tryptase; MC counting per mm2; calculation of the difference between the CD117-positive MCs (identifying all MCs) vs. tryptase-positive MCs (identifying non-activated tryptase-containing MCs), which we define as the tryptase depletion index (TDI). RESULTS: Mean total MC counts did not differ significantly between patients and controls, but mean TDIs differed significantly. Non-overlapping confidence intervals at the 99.9% level identified cut-offs of TDIs between patients vs. controls of 26, 45 and 32 MCs/mm2 in gastric antrum, duodenum, and colon, respectively. CONCLUSIONS: The TDI may discriminate between MCAS patients vs. controls. If this preliminary work can be independently confirmed, the TDI may become a useful additional minor diagnostic criterion for MCAS.


Assuntos
Síndrome da Ativação de Mastócitos , Humanos , Triptases , Mastócitos/patologia , Biópsia , Duodeno
18.
Orphanet J Rare Dis ; 17(1): 295, 2022 07 29.
Artigo em Inglês | MEDLINE | ID: mdl-35906626

RESUMO

BACKGROUND: Systemic mastocytosis is a rare genetic disease characterized by aberrant proliferation and/or activation of mast cells, resulting in multi-organ, allergy-like symptoms. Mast cell activation syndrome (MCAS) is a clinically similar, but more prevalent disease with unclear etiology. In this study, the health-related quality of life (HRQOL) and health literacy of people suffering from SM and MCAS were assessed. RESULTS: Two validated questionnaires (QLQ-C30/QLQ-INFO25) from the European Organisation for Research and Treatment of Cancer (EORTC) were used to analyze HRQOL and level of information of SM and MCAS patients. In addition, a control group without any health issues was included. Data were analyzed by ANOVA and linear regression to detect significant differences. Questionnaire data from 66 patients with MCAS (83% female, mean 44 years), 32 patients with SM (78% female, mean 53 years) and 52 healthy participants (67% female, mean 48 years) resident in Germany were analyzed. HRQOL as measured by the Global health status was significantly worse in patients suffering from MCAS or SM compared to control group. Individuals with MCAS showed a slightly, but insignificantly lower score on Global health status, and a significantly lower score with respect to role function and fatigue. Patients with the rare disease SM felt significantly better informed on their disease compared to MCAS patients. Linear regression performed separately for both groups showed a direct influence of the level of information on patients' HRQOL. CONCLUSION: Overall, our study showed a significant negative impact on the HRQOL of both diseases, but only a small difference in quality of life and severity of symptoms between patients with MCAS and the supposedly more severe form, the rare disease SM. Our results demonstrate that the level of information patients receive impacts HRQOL, and that this is not only an issue in rare diseases, but also diseases with unclear etiology and pathology. Our data shows that even slight improvements in the patient's level of information can have a positive effect on their quality of life, further highlighting the importance of gaining more knowledge on rare and incompletely understood diseases and communicating these insights to patients.


Assuntos
Letramento em Saúde , Síndrome da Ativação de Mastócitos , Mastocitose Sistêmica , Mastocitose , Feminino , Humanos , Masculino , Mastocitose Sistêmica/diagnóstico , Qualidade de Vida , Doenças Raras
19.
J Psychiatr Res ; 147: 283-290, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35114512

RESUMO

Individuals with social anxiety disorder (SAD) often suffer from comorbid major depressive disorder (MDD), which goes along with increased clinical and functional impairment. There has been little research on underlying differences regarding childhood adversities and attachment styles between individuals with SAD with and without comorbid MDD. In the present study, the consecutive sample comprised 612 SCID-diagnosed participants. Of these, n = 472 (62.3% women, 40.7 ± 13.8 years) showed SAD and comorbid MDD (SAD-MDD group) and n = 140 (47.9% women, 43.7 ± 14.7 years) showed just SAD (SAD group). The two groups were compared regarding SAD symptom severity (Social Phobia Inventory; SPIN), childhood adversities (Adverse Childhood Experience Questionnaire; ACE) and attachment styles (Attachment Style Questionnaire, ASQ). The SAD-MDD group reported significantly more severe SAD symptoms (p = .002, d = 0.30), more childhood adversities (p < .001, d = 0.35) and a higher level of fearful attachment style (p < .001, d = 0.30). Group significantly moderated the association between fearful attachment style and SAD symptom severity (ß = .292, p < .05) but not between preoccupied attachment style and SAD symptom severity (ß = -.184, p = .124; R2adj = .168, p < .05). Fearful attachment style mediated the association between childhood adversities and SAD symptom severity in the SAD-MDD group. Our study could identify a specific significance of fearful attachment style for the association between negative childhood experiences and social anxiety symptoms in SAD-MDD. Findings have specific implications for the therapeutic relationship.


Assuntos
Transtorno Depressivo Maior , Fobia Social , Ansiedade , Estudos Transversais , Depressão , Transtorno Depressivo Maior/epidemiologia , Medo , Feminino , Humanos , Masculino , Fobia Social/diagnóstico , Fobia Social/epidemiologia
20.
Artigo em Inglês | MEDLINE | ID: mdl-35055583

RESUMO

Pressure injuries remain a serious health complication for patients and nursing staff. Evidence from the past decade has not been analysed through narrative synthesis yet. PubMed, Embase, CINAHL Complete, Web of Science, Cochrane Library, and other reviews/sources were screened. Risk of bias was evaluated using a slightly modified QUIPS tool. Risk factor domains were used to assign (non)statistically independent risk factors. Hence, 67 studies with 679,660 patients were included. In low to moderate risk of bias studies, non-blanchable erythema reliably predicted pressure injury stage 2. Factors influencing mechanical boundary conditions, e.g., higher interface pressure or BMI < 18.5, as well as factors affecting interindividual susceptibility (male sex, older age, anemia, hypoalbuminemia, diabetes, hypotension, low physical activity, existing pressure injuries) and treatment-related aspects, such as length of stay in intensive care units, were identified as possible risk factors for pressure injury development. Health care professionals' evidence-based knowledge of above-mentioned risk factors is vital to ensure optimal prevention and/or treatment. Openly accessible risk factors, e.g., sex, age, BMI, pre-existing diabetes, and non-blanchable erythema, can serve as yellow flags for pressure injury development. Close communication concerning further risk factors, e.g., anemia, hypoalbuminemia, or low physical activity, may optimize prevention and/or treatment. Further high-quality evidence is warranted.


Assuntos
Unidades de Terapia Intensiva , Lesão por Pressão , Adulto , Pessoal de Saúde , Humanos , Masculino , Lesão por Pressão/epidemiologia , Lesão por Pressão/etiologia , Fatores de Risco
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