The nature of diagnostic constructs

Author(s):  
Ahmed Samei Huda

Classification is essential in medicine to help doctors acquire, learn, and recall clinically useful information about problems coming to healthcare professionals’ attention. There problems include both essentialist diagnostic constructs (where all examples share a quality and are distinct from other constructs) and nominalist diagnostic constructs (used to describe clinically useful concepts not necessarily separate from other constructs). Diagnostic constructs may be recognized using defined criteria and/or as prototypical examples. They are based on similarities in clinical picture, mechanisms/processes, and/or causes. They may be used to identify clinically important situations, diseases/clear-cut syndromes, spectrums of health, illness(es)/and condition(s), injuries, and other situations of interest to healthcare professionals. Thresholds established on the basis of clinical utility (e.g. level of distress or risk of complications) may be used to define conditions. Care must be taken to guard against over-medicalization of problems or situations.

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1284.1-1285
Author(s):  
A. S. Lundberg ◽  
B. A. Esbensen ◽  
E. M. Hauge ◽  
A. De Thurah

Background:Early treatment, before three months from symptom onset of rheumatoid arthritis (RA), is essential to increase the likelihood of remission and to prevent permanent joint damage (1). However, it has been shown that only 20% of the patients are seen within the first three months, and the median delay in general practice has been estimated to 4 months (range 2–9) (2).Objectives:To explore the barriers in diagnosing RA from the general practitioners’ (GPs) perspective.Methods:We conducted a qualitative study based on focus group interviews. We recorded the interviews digitally and transcribed verbatim. The transcribed interviews were analyzed based on content analysis (3), by using Nivo 12. Sample size was determined by thematic saturation.Results:In total ten GPs participated in three different focus groups. 40 % were female, mean age was 53 years (range 37-64), and mean year since specialist authorization as GP was 16 years (range 5-23). 60 % of the GPs worked in a practice located within the referral area of a university hospital; the remaining within the referral area of a regional hospital.Four themes emerged in the analysis: 1) When the patient is not a text book example, referring to the difficulty of identifying relevant symptoms among all clinical manifestations from the joints as described by the patients, 2)The importance of maintaining the gatekeeper function, referring to the societal perspective, and the GPs responsibility to refer the right patients to secondary care, 3)Difficulties in referral of patients to the rheumatologist,referring to perceived differences in the collaboration with rheumatologists. The GPs experienced that it was sometimes difficult to be assisted by rheumatologists, especially when the clinical picture was not ‘clear cut’. Finally, (4)Para-clinical testing, can it be trusted?referring to challenges on the evaluation of especially biomarkers.The overarching theme was:Like finding a needle in a haystack, covering the GPs difficulties in detecting RA among the many patients in general practice who appear to be well and at the same time have symptoms very similar to RA.Conclusion:The GPs experienced that RA was a difficult diagnosis to make. The immediate challenge was that RA patient’s initial symptoms often resembled those of more common and less serious conditions, and that investigative findings such as biomarkers can be negative at the early state of the disease. At the same time, the collaboration with rheumatologists was sometimes seen as a hurdle, when the clinical picture was not ‘clear cut’.In order to facilitate earlier diagnosis of RA in general practice, the GPs and rheumatologists need to focus on these barriers by strengthening mutual information and collaboration.Physicians should remain vigilant to patients who have conditions that do not resolve as expected with treatment, who have symptoms that persist, or who do not look well despite negative investigative findings.References:[1]Aletaha D, et al. JAMA, Oct 2018.[2]Kiely P, et al. Rheumatology, Jan 2009.[3]Braun V. Qualitative research in psychology. 2006, 3(2), 77-101Disclosure of Interests:Anne Sofie Lundberg: None declared, Bente Appel Esbensen: None declared, Ellen-Margrethe Hauge Speakers bureau: Fees for speaking/consulting: MSD, AbbVie, UCB and Sobi; research funding to Aarhus University Hospital: Roche and Novartis (not related to the submitted work)., Annette de Thurah Grant/research support from: Novartis (not relevant for the present study)., Speakers bureau: Lily (not relevant for the present study).


2011 ◽  
Vol 135 (7) ◽  
pp. 847-852
Author(s):  
Francisco Bravo Puccio ◽  
Cesar Chian

Abstract Context.—Acral lentiginous melanoma is the most prevalent clinical presentation of melanoma in ethnic groups other than whites and also occurs in significant numbers in North America and Europe. Despite a clear-cut clinical picture, histologic findings seen in partial biopsies may be too subtle and deceive pathologists dealing with such cases. Objectives.—To make pathologists aware of the histologic findings during early phases of acral lentiginous melanoma (including the in situ phase), to compare those findings with what is seen in acral junctional nevus, and to highlight their similarities and differences. This review will also emphasize the important clinical and dermatoscopic findings to be considered when diagnosing acral lentiginous melanoma. Data Sources.—Review of published articles on the epidemiology; the clinical, dermatoscopic, and histopathologic findings; and the molecular biology of acral lentiginous melanoma as well as the personal experience of the authors when dealing with such cases. Conclusions.—Acral lentiginous melanoma is a clinicopathologic entity with a clear-cut clinical picture: a diameter larger than 0.7 mm; ill-defined, darkly pigmented, flat lesion with irregular borders on acral locations; and the presence of mostly single-cell proliferations of melanocytes along the dermo-epidermal junction. Along with a few additional criteria, these findings should be sufficient to allow the pathologist to make the diagnosis and to recommend complete excision. Fluent communication between clinician and pathologist will facilitate a correct diagnosis.


2020 ◽  
Author(s):  
Brianne S Raccor ◽  
Dorothea K Thompson ◽  
Chantley Thomas ◽  
Amber K Hill ◽  
Kaitlin Shields ◽  
...  

Aim: Perceived knowledge, use and perceptions of pharmacogenomics (PGx) testing were assessed among healthcare practitioners in North Carolina. Materials & methods: A validated survey was distributed to various healthcare professionals and analyzed for differences among the groups. Results: The majority of the 744 survey respondents acknowledged the perceived benefits of PGx testing, but indicated either never or rarely using it. A substantial percentage of practitioners reported educational experiences but the majority had received no training. Among groups reporting using PGx testing, barriers to implementation were cost and insufficient training. Conclusion: The perceived cost of PGx testing and insufficiency or lack of training are major contributing factors to the infrequent use of PGx testing by healthcare providers in North Carolina.


2017 ◽  
Vol 95 (2) ◽  
pp. 118-122
Author(s):  
Yulia A. Dolgikh ◽  
A. F. Verbovoy ◽  
L. A. Sharonova

Subclinical hypothyroidism is a rather common disorder of the thyroid gland. Despite the fact that subclinical hypothyroidism has no clear-cut clinical picture, this condition is associated with changes in various organs and systems, moreover, it is a risk factor of cardiovascular diseases. The article summarizes the available data on subclinical hypothyroidism, principles of its diagnostics and treatment.


1940 ◽  
Vol 86 (363) ◽  
pp. 624-631
Author(s):  
E. Guttmann ◽  
Mildred Creak

In a study on chorea, tics and compulsive utterances, Creak and Guttmann (1) discussed some problems of the inter-relation of organic neurological and neurotic symptoms. They showed that residuals, latent or manifest, of neurological diseases of the motor system may be instrumental in shaping the clinical picture of neuroses. There is generally no difficulty in demonstrating such interrelations, if the neurological anomalies are of a well-known type and clear cut in onset. Pareses, peripheral or central, or aphasic disorders, are generally not difficult to recognize where they are the nucleus of a neurotic picture, and not much objection is encountered if one tries to assess their importance, pathogenetic or pathoplastic, in a given clinical picture. This, however, is difficult where less well known syndromes are concerned, such as apraxic or agnosic pictures, or where beginning or end are gradual and the whole picture less clearly defined, as in disturbances of the extra-pyramidal motor system. To recognize an early stage of Parkinsonianism within a depression or other “neurotic” illness is not easy. The same is true of mild extra-pyramidal hyperkinetic states, partly because they may be so similar to normal movements (pseudo-purposeful), and partly because the milder anomalies as seen in early or later stages (and in abortive cases) are little known.


2021 ◽  
Author(s):  
Sibel Ozcan ◽  
Muhammed Mirac Kelestemur ◽  
Munevver Gizem Hekim ◽  
Ozgur Bulmus ◽  
Ferah Bulut ◽  
...  

Abstract Neuropathic pain is primarily caused by nervous system lesions or dysfunction. Evidence strongly suggests that obesity, diabetes and cancer are common in chronic pain conditions, and pain complaints are common in these individuals. Recent studies indicate presence of a strong link between adipokines and neuropathic pain. However, the effects of asprosin, a novel adipokine, on neuropathic pain have not been studied in animal modelsMouse models were employed to investigate the antinociceptive effectiveness of asprosin in the treatment of three types of neuropathic pain, with metabolic (streptozocin/STZ), toxic (oxaliplatin/OXA), and traumatic (sciatic nerve ligation/CCI [chronic constriction nerve injury]) etiologies, respectively. Changes in nociceptive behaviors were assessed relative to controls using thermal (the hot plate and cold plate tests, at 50 °C and 4 °C respectively) and mechanical pain (Von Frey test) tests at baseline and 30, 60, 120 and 180 minutes after asprosin administration. Serum level of asprosin was quantified by ELISA. In all three neuropathic pain models (STZ, OXA and CCI), asprosin administration significantly reduced both mechanical and thermal hypersensitivity, indicating that it exhibits a clear-cut antihypersensitivity effect in the analyzed neuropathic pain models. Asprosin levels were significantly lower in three types of neuropathic pain compare to controls (p < 0.05). The results yielded by the present study suggest that asprosin exhibits an analgesic effect in the neuropathic pain models and may have clinical utility in alleviating chronic pain associated with disease and injury originating from peripheral structures.


Author(s):  
Ahmed Samei Huda

The clinical picture is the doctor’s interpretation based on what has happened to the patient and symptoms, signs, and results of investigations that are available to her. It is created by the interaction of causative factors as well as multiple cultural, interactive, and individual factors. The doctor matches the patient’s clinical picture with the diagnostic construct and the most common elements of an attached clinical picture. Diagnostic constructs based on similarity with the clinical picture may have clinical utility by accumulating information about likely outcomes and responses to treatments. Diagnostic constructs based on common mechanisms (such as changes in structure or processes) and/or causes have greater scientific validity and allow more reliable diagnostic investigations and better prospects of developing superior treatments. Most medical conditions are caused by a combination of causative factors. Proving a factor is causative is complex. One of the best known methods is Austen Hill’s framework. Conditions occur due to combinations of causes, characteristics, and contexts.


Author(s):  
Line Buhl ◽  
David Muirhead

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.


Author(s):  
Melen McBride

Ethnogeriatrics is an evolving specialty in geriatric care that focuses on the health and aging issues in the context of culture for older adults from diverse ethnic backgrounds. This article is an introduction to ethnogeriatrics for healthcare professionals including speech-language pathologists (SLPs). This article focuses on significant factors that contributed to the development of ethnogeriatrics, definitions of some key concepts in ethnogeriatrics, introduces cohort analysis as a teaching and clinical tool, and presents applications for speech-language pathology with recommendations for use of cohort analysis in practice, teaching, and research activities.


2011 ◽  
Vol 21 (2) ◽  
pp. 59-62
Author(s):  
Joseph Donaher ◽  
Christina Deery ◽  
Sarah Vogel

Healthcare professionals require a thorough understanding of stuttering since they frequently play an important role in the identification and differential diagnosis of stuttering for preschool children. This paper introduces The Preschool Stuttering Screen for Healthcare Professionals (PSSHP) which highlights risk factors identified in the literature as being associated with persistent stuttering. By integrating the results of the checklist with a child’s developmental profile, healthcare professionals can make better-informed, evidence-based decisions for their patients.


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