diagnosis by exclusion
Recently Published Documents


TOTAL DOCUMENTS

34
(FIVE YEARS 18)

H-INDEX

4
(FIVE YEARS 1)

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Willeke M. Kitselaar ◽  
Rosalie van der Vaart ◽  
Madelon van Tilborg-den Boeft ◽  
Hedwig M. M. Vos ◽  
Mattijs E. Numans ◽  
...  

Abstract Background Persistent somatic symptoms (PSS) are common in primary care and often accompanied by an increasing disease burden for both the patient and healthcare. In medical practice, PSS is historically considered a diagnosis by exclusion or primarily seen as psychological. Besides, registration of PSS in electronic health records (EHR) is unambiguous and possibly does not reflect classification adequately. The present study explores how general practitioners (GPs) currently register PSS, and their view regarding the need for improvements in classification, registration, and consultations. Method Dutch GPs were invited by email to participate in a national cross-sectional online survey. The survey addressed ICPC-codes used by GPs to register PSS, PSS-related terminology added to free text areas, usage of PSS-related syndrome codes, and GPs’ need for improvement of PSS classification, registration and care. Results GPs (n = 259) were most likely to use codes specific to the symptom presented (89.3%). PSS-related terminology in free-text areas was used sparsely. PSS-related syndrome codes were reportedly used by 91.5% of GPs, but this was primarily the case for the code for irritable bowel syndrome. The ambiguous registration of PSS is reported as problematic by 47.9% of GPs. Over 56.7% of GPs reported needing additional training, tools or other support for PSS classification and consultation. GPs also reported needing other referral options and better guidelines. Conclusions Registration of PSS in primary care is currently ambiguous. Approximately half of GPs felt a need for more options for registration of PSS and reported a need for further support. In order to improve classification, registration and care for patients with PSS, there is a need for a more appropriate coding scheme and additional training.


Blood ◽  
2021 ◽  
Author(s):  
Ross Ian Baker ◽  
James O'Donnell

Recent studies have demonstrated that only 30% of patients referred for assessment of a possible bleeding tendency will eventually be diagnosed with a mild bleeding disorder (MBD) such as von Willebrand disease (VWD) or platelet function defect (PFD). Rather, the majority of such patients will be diagnosed with Bleeding Disorder of Unknown Cause (BDUC). There remains an important unmet need to define consensus regarding the clinical and laboratory criteria necessary for a formal BDUC diagnosis. Nevertheless, BDUC already accounts for more than 10% of patients registered in some Haemophilia Comprehensive Care centres. Accumulating recent data suggest that BDUC is also being diagnosed with increasing frequency. Increased BAT scores are widely utilized to differentiate significant from trivial symptoms in patients with mucocutaneous bleeding. Objective assessment of bleeding phenotype using a standardised bleeding assessment tool (BAT) therefore represents a fundamental first step in the diagnosis of BDUC. Since BDUC is a diagnosis by exclusion, accurate quantification of bleeding phenotype is critical as this will be the primary determinant upon which a diagnosis of BDUC is reached. Importantly, BAT scores suggest that patients with BDUC display bleeding phenotypes comparable to those seen in patients with VWD or PFD respectively. Despite the prevalence of BDUC, diagnosis and management of these patients commonly pose significant clinical dilemmas. In this manuscript, we consider these challenges in the context of a number of typical case studies, discuss the available evidence and outline our approach to the management of these patients.


2021 ◽  
pp. 121-126
Author(s):  
G. G. Krivoborodov ◽  
E. I. Tur ◽  
D. A. Shirin

World studies have shown that the mean prevalence of overactive bladder (OAB) ranges today from 11 to 16% of the global population and is common in both men and women. In addition, OAB is a diagnosis by exclusion. The article discusses two large groups of the causes of pathology: neurological and non-neurological. The former includes various diseases and conditions that lead to a complex abnormality in the urinary mechanism, namely, involuntary detrusor contractions and increased intravesical pressure. Spinal trauma, brain strokes and spinal strokes, multiple sclerosis, Parkinson’s disease, etc. are the most common of them. Unidentified factors constitute the second group of causes resulting in urgent frequent urination, and what is meant here is idiopathic detrusor hyperactivity (IDH). In this case, a patient may have these symptoms amidst full health without any neurological history. According to the available current guidelines, the treatment of OAB includes a three-step algorithm and suggests lifestyle changes, drug therapy and, finally, minimally invasive methods of treatment. Historically, M-anticholinergics are the main drugs for the treatment of OAD symptoms. However, administration of drugs from this group may often be impossible due to prominent side effects, which are more commonly reported among elderly patients. Unlike M-anticholinergics, Mirabegron is the only β3-adrenergic receptor agonist today that has shown a high efficacy and safety profile based on the results of large-scale placebo-controlled clinical trials.


2021 ◽  
Vol 59 (4) ◽  
pp. 681-686
Author(s):  
Pacifique Lévy ◽  
Safouane Hamdi ◽  
Jean Guiboudenche ◽  
Marie Clothilde Haguet ◽  
Sophie Bailleul ◽  
...  

Abstract Objectives Placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) assays and the corresponding ratios (sFlt-1/PlGF) have been proposed to aid in the diagnosis by exclusion and/or prognosis of preeclampsia (PE). A method for evaluating ratio uncertainties (RUs), based on the theory of error propagation, was applied to the sFlt-1/PlGF ratio. Methods RUs were calculated using data derived from sFlt-1 and PlGF Internal Quality Control (IQC) results collected from four centers using Elecsys (Roche) or Kryptor (Thermo Fisher) sFlt-1 and PlGF assays. The corresponding ratio uncertainties were defined for each ratio value. Results The RUs increased linearly with the sFlt-1/PlGF ratio values. The Elecsys RUs were lower than the Kryptor RUs. Although RUs cannot eliminate differences in ratio values observed among various immunoassays, it can affect interpretation of the sFlt-1/PlGF ratio, especially when results are within the range of predefined PE diagnosis or prognosis cut-offs. Conclusions Since RUs are only a function of PlGF and sFlt-1 precision, they can be calculated for each assay from each laboratory to adjust the interpretation of sFlt-1/PlGF ratio results in the context of PE.


2021 ◽  
Author(s):  
Willeke Kitselaar ◽  
Rosalie van der Vaart ◽  
Madelon van Tilborg-den Boeft ◽  
Hedwig Vos ◽  
Mattijs Numans ◽  
...  

Abstract Background: Persistent somatic symptoms (PSS) are common in primary care and often accompanied by an increasing disease burden for both the patient and healthcare. In medical practice, PSS is historically considered a diagnosis by exclusion or primarily seen as psychological. As a result, classification and registration of PSS in electronic health records (EHR) is hampered. The present study explores how general practitioners (GPs) currently register PSS, and what their view is regarding necessary improvements in classification, registration, and consultations.Method: Dutch GPs were invited by email to participate in a national cross-sectional online survey. The survey addressed ICPC-codes used by GPs to register PSS, PSS-related terminology added to free text areas, usage of PSS-related syndrome codes, and GPs’ need for improvement of PSS classification, registration and care.Results: GPs (n=259) were most likely to use codes specific to the symptom presented (89.3%). PSS-related terminology in free-text areas was used sparsely. PSS-related syndrome codes were reportedly used by 91.5% of GPs, but this was primarily the case for the code for irritable bowel syndrome. The ambiguous registration of PSS is reported as problematic by 47.9% of GPs. Over 56.7% of GPs reported needing additional schooling, tools or other support for PSS classification and consultation. GPs also reported needing other referral options and better guidelines.Conclusions: Registration of PSS in primary care is currently ambiguous. Approximately half of GPs felt a need for more options for registration of PSS and reported a need for further support. In order to improve classification, registration and care for patients with PSS, there is a need for a more appropriate coding scheme and additional schooling.


Healthcare ◽  
2021 ◽  
Vol 9 (2) ◽  
pp. 168
Author(s):  
Victoria Strassheim ◽  
Julia L. Newton ◽  
Tracy Collins

Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME) is a rare disease with no known etiology. It affects 0.4% of the population, 25% of which experience the severe and very severe categories; these are defined as being wheelchair-, house-, and bed-bound. Currently, the absence of biomarkers necessitates a diagnosis by exclusion, which can create stigma around the illness. Very little research has been conducted with the partly defined severe and very severe categories of CFS/ME. This is in part because the significant health burdens experienced by these people create difficulties engaging in research and healthcare provision as it is currently delivered. This qualitative study explores the experiences of five individuals living with CFS/ME in its most severe form through semi-structured interviews. A six-phase themed analysis was performed using interview transcripts, which included identifying, analysing, and reporting patterns amongst the interviews. Inductive analysis was performed, coding the data without trying to fit it into a pre-existing framework or pre-conception, allowing the personal experiences of the five individuals to be expressed freely. Overarching themes of ‘Lived Experience’, ‘Challenges to daily life’, and ‘Management of the condition’ were identified. These themes highlight factors that place people at greater risk of experiencing the more severe presentation of CFS/ME. It is hoped that these insights will allow research and clinical communities to engage more effectively with the severely affected CFS/ME population.


2021 ◽  
pp. 107815522098115
Author(s):  
Shengya Fu ◽  
Ting Wang ◽  
Feng Xu

Introduction Nivolumab, a programmed death-1(PD-1) inhibitor antibody, have demonstrated anti-tumor activity for multiple malignancies. Such immune checkpoint inhibitors induce novel and distinctive adverse effects, which are collectively named immune-related adverse events. Immune-related adverse events can theoretically occur at any part of the body, including the haemopoietic system. Most immune-related adverse events developed within 10 weeks of receiving immunotherapy. Thus far, there is no report of immune thrombocytopenia as an immune-related adverse event developed after discontinuation of immunotherapy. Case report We describe a 62-year-old male with metastatic non-small cell lung cancer developed immune thrombocytopenia nearly two months after discontinuation of nivolumab. When thrombocytopenia was detected, the patient was undergoing radiotherapy of supraclavicular lymph nodes. After complex diagnosis-by-exclusion process, nivolumab-induced immune thrombocytopenia was diagnosed. Management and outcome Intravenous immunoglobulins 20 g daily for 5 days, intravenous methylprednisolone 40 mg daily for 14 days followed by oral prednisone, intermittent platelet transfusion and oral thrombopoietin receptor (eltrombopag 25 mg daily) were administered. After 30 days, his platelet count had achieved a level of adequate hemostasis and continued to improvement during the tapering period. Discussion Most immune-related developed 6 months of immunotherapy. Clinicians need to be aware of a clinical diagnostic complex, developing months to years after discontinuation of immunotherapy, which recently is termed delayed immune-related events. This case is the first report of immune checkpoint inhibitors-induced thrombocytopenia that developed nearly 2 months after discontinuation of treatment with nivolumab for metastatic NSCLC. In future clinical practice, patients who have received immune checkpoint inhibitors develop new or unexplained symptom, irrespective of interval post-immunotherapy, immune-related adverse events should be considered.


2021 ◽  
Author(s):  
Lília Tereza Diniz Nunes ◽  
Flávia S. Silva ◽  
Karyme G. Aota ◽  
Maria Beatriz Miranda S. B. de Assis ◽  
João Fellipe B. Bento ◽  
...  

Context: Tolosa-Hunt Syndrome (STH) is a rare condition with unknown etiology, it affects both genders equally. It is manifested by inflammation of the cavernous sinus and involvement of some cranial nerves pairs. Case report: MSR, 39 years, male, diver in the mining zone, history of recurrent otitis with acute pain and gradual hearing loss that progressed. He was admitted to the General Hospital of Palmas with symptoms of retrorbital headache. After physical exams it was found an ophthalmoplegia with right amaurosis and ipsilateral pain. The neurological examination showed a right eye with loss of photomotor reflex and presence of consensual reflex and eyelid ptosis. After 38 days in hospital, a probable septic thrombosis of the cavernous sinus was found, antibiotic and corticosteroids therapy was initiated. The patient also reports significant improvement in headache and partially in vision, he is currently hospitalized with clinical care and antibiotic therapy, awaiting results of the image examination report. Conclusions: Painful ophthalmoplegia in most cases is not diagnosed as STH. The differential diagnosis for this pathology is most often through brain magnetic ressonance and the ICHD-3 beta diagnostic criteria, STH should be suspected, but it is still necessary to close the diagnosis by exclusion, due to the lack of a specific diagnosis.


2020 ◽  
Vol 13 (4) ◽  
pp. 504-509
Author(s):  
Sol Carriazo ◽  
Maria Vanessa Perez-Gomez ◽  
Alberto Ortiz

Abstract In the 2017 Annual Report of the ERA-EDTA Registry, hypertension continues to be the second or third most common cause of renal replacement therapy (RRT) in Europe, tied with glomerulonephritis. There is, however, one little issue: hypertension-induced end-stage renal disease (ESRD) might not exist at all as currently understood, that is, as hypertensive nephrosclerosis. In this regard, the incidence of RRT due to hypertensive nephropathy is related to the incidence of other causes of ESRD but not to the burden of hypertension per country. The current definition of hypertensive nephropathy is non-specific, outdated and only allows a delayed diagnosis by exclusion. It is not helpful that 80% of chronic kidney disease patients develop hypertension and kidney biopsy has no findings specific for hypertensive nephropathy. There is an urgent need to redefine the concept of hypertensive nephropathy with a clear and comprehensive set of criteria that at least should indicate how other nephropathies, including familial nephropathies, should be excluded. Correct causality assessment and aetiology-based therapy is a key to the progress of nephrology and it should no longer be accepted that ‘hypertensive nephropathy’ serves to disguise a suboptimal diagnostic workup. A diagnosis of nephropathy of unknown cause would be more honest when the full range of alternative aetiological diagnoses is not explored.


Sign in / Sign up

Export Citation Format

Share Document