Clinical Diagnosis Management Research Articles

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in BCOR gene.

Radiculomegaly is a rare dental anomaly characterised by the enlargement of the root canals of teeth. It is usually associated with oculo-facio-cardio-dental (OFCD) syndrome due to truncating variants in BCL-6 transcriptional corepressor (BCOR) (MIM*300485). We present the case of a 21-year-old female patient who was referred to genetics for a polymalformative syndrome including bilateral glaucoma and dental anomalies, especially radiculomegaly. Some others dysmorphic features were right superior lip notch, ogival palate, long philtrum, difficulty in pronation, café-au-lait spots, II-III toe bilateral syndactyly, and macrocephaly. Cone-beam CT confirmed radiculomegaly. The genetic analysis identified a heterozygous pathogenic variant NM_001123385.1:c.2093del (p.Pro698Glnfs*17) in the BCOR gene. After genetic diagnosis of OFCD syndrome, cardiac CT-scan revealed a large asymptomatic atrial septal defect that was subsequently surgically closed. Reviews of the literature have previously highlighted the prevalence of radiculomegaly in OFCD syndrome with a positive predictive value of 88.23% and a sensitivity of 75.94%. This case report highlights the importance of radiculomegaly as a clinical sign of OFCD syndrome, emphasising the rarity of non-syndromic radiculomegaly and the benefits of its diagnosis in clinical management, especially in cardiac screening.

How to develop rapid reviews of diagnostic tests according to experts: A qualitative exploration of researcher views

AbstractBackgroundRapid reviews (RRs) have been used to provide timely evidence for policymakers, health providers, and the public in several healthcare scenarios, most recently during the coronavirus disease 2019 pandemic. Despite the essential role of diagnosis in clinical management, data about how to perform RRs of diagnostic tests are scarce. We aimed to explore the views and perceptions of experts in evidence synthesis and diagnostic evidence about the value of methods used to accelerate the review process.MethodsWe performed semistructured interviews with a purposive sample of experts in evidence synthesis and diagnostic evidence. We carried out the interviews in English between July and December 2021. Initial reading and coding of the transcripts were performed using NVIVO qualitative data analysis software.ResultsOf a total of 23 invited experts, 16 (70%) responded. We interviewed all 16 participants representing key roles in evidence synthesis. We identified 14 recurring themes including the review question, characteristics of the review team, and use of automation, as the topics with the highest number of quotes. Some participants considered several methodological “shortcuts” to be ineffective or risky, such as automating quality appraisal, using only one reviewer for diagnostic data extraction and only performing descriptive analysis. The introduction of limits might depend on whether the test being assessed is a new test, the availability of alternative tests, the needs of providers and patients, and the availability of high‐quality systematic reviews.ConclusionsOur findings suggest that organizational strategies (e.g., defining the review question, availability of a highly experienced team) may have a role in conducting RRs of diagnostic tests. Several methodological shortcuts were considered inadequate for accelerating the review process, though they need to be assessed in well‐designed studies. Improved reporting of RRs would support evidence‐based decision‐making and help users of RRs understand their limitations.

A RARE CASE REPORT OF MOYAMOYA DISEASE WITH OCULAR ISCHAEMIC SYNDROME IN A 34 YEARS OLD INDIAN WOMAN.

A case of 34 years old Indian female with ocular ischaemic syndrome in both eyes with Moyamoya Disease reported as unusual presentation with its clinical diagnosis management and result. Came with a complain of Giddiness headache which were on and off for 4-6 months and did not relieve on routine medical therapy. The patient was investigated with CT Angiogram, diagnosed as Moyamoya disease and HRCT (Highresolution computed tomography) temporal bone and diagnosed as a chronic serous otitis media. Ocular ischemic syndrome is extremely rare in young patient with moyamoya disease may be particularly susceptible to the development of ocular ischemia due to the associated carotid occlusion. This rare instance of young female ocular ischemia in conjunction with moyamoya disease demonstrates the serious ocular and systemic sequelae of occlusive vascular disease.

Predoctoral Dental Implant Education at Creighton University School of Dentistry

The purpose of this report is to describe the dental implant education that predoctoral students receive and to characterize the patient population receiving implants at Creighton University School of Dentistry (CDS). CDS has no postdoctoral residency programs. Therefore, clinical management of diagnosis, treatment planning, surgical aspects, restoration, complications, and maintenance of dental implants requires significant involvement by predoctoral dental students. CDS implant education involves radiology diagnostic assets of the General Dentistry Department (including the use of Cone Beam Computed Tomography), as well as faculty and equipment from the Departments of Oral and Maxillofacial Surgery, Periodontics, and Prosthodontics, with a majority of students satisfied with their didactic preparation for their clinical experiences. Focusing on a three-year window from August 2007 to August 2010 and using electronic health records, this study found that a total of 242 implants were placed, out of which six failed within one year of placement and had to be removed. The average age of the population of 153 patients was found to be 53.3 years, with a range of eighteen to eighty-nine. Treatment outcomes compared very favorably with those published in the literature.

La gestión de los laboratorios de microbiología: una asignatura (casi) pendiente

Many professionals from distinct disciplines work in health centers and consequently these workplaces should be considered as service companies, involving human, material and financial resources aimed at providing a service required by society. Hospitals are one of the most complex types of company, in which diverse goods and services are produced and consumed. Like the hospital as a whole, the various units and departments in which the hospital is divided, including the microbiology department, are sufficiently different to be called distinct, but related, branches of the same company, given that none can perform their function without the others. Viewing a hospital service as a branch of a large company (the hospital as a whole) allows its production, the resources used in this production, and its clients to be identified more clearly. The healthcare model based on clinical management units aims to constitute a new organizational model for public health systems in which health strategies are performed that allow innovation and decentralization of the healthcare network. Clinical management provides the framework for attending to the population's healthcare needs through a person-centered approach and involves all the professionals in any of the settings in which healthcare is provided. Among the aims of this model is to guarantee continuity of care, facilitate comprehensive health promotion and deliver daily healthcare effectively. The main instruments of clinical management are structured knowledge of the population's health needs, the use of the best scientific knowledge available, and a comprehensive and participatory practical model, together with assessment tools. Three possible clinical management models are proposed for the work of specialists in microbiology and parasitology: a) a microbiology clinical management unit; b) a biological diagnosis clinical management unit, and c) a multidisciplinary clinical management unit with cross-competencies with affiliated specialties. The latter two models have strengths and weaknesses and the choice of any model must be based on mutual trust, respect for areas of knowledge and the search for synergy among the units and services forming these models. Any of the proposed models could be valid, although the selection of a particular model should consider the working environment, the size of the hospital, and the interpersonal relations within its components, which should be based on complementariness, dialogue and the search for consensus in decision-making to achieve a synergistic environment. The model that might best satisfy clinical microbiologists' expectations and promote their future development and survival in the era of automatization of most microbiological diagnostic procedures could be the multidisciplinary model.

Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy

The aim of this study was to evaluate the potential utility of genetic diagnosis in clinical management of families with hypertrophic cardiomyopathy (HCM) caused by mutations in the gene for cardiac troponin I (TNNI3). Knowledge about the clinical disease expression of sarcomeric gene mutations in HCM has predominantly been obtained by investigations of single individuals (probands) or selected families. To establish the role of genetic diagnosis in HCM families, systematic investigations of probands and their relatives are needed. Cardiac troponin I was investigated by direct sequencing and fluorescent (F)-SSCP analysis in 748 consecutive HCM families. Relatives of HCM probands with TNNI3 mutations were invited for cardiovascular and genetic assessment. The prevalence of TNNI3 mutations was 3.1%. Mutations appeared to cluster in exons 7 and 8. A total of 100 mutation carriers were identified in 23 families with 13 different mutations (6 novel). Disease penetrance was 48%. Patients were diagnosed from the second to eighth decade of life. The morphologic spectrum observed represented a wide range of HCM. Two offspring of clinically unaffected mutation carriers were resuscitated from cardiac arrest, and an additional four individuals died suddenly as their initial presentation. Six individuals experienced other disease-related deaths. The clinical expression of TNNI3 mutations was very heterogeneous and varied both within and between families with no apparent mutation- or gene-specific disease pattern. The data suggest that disease development may be monitored by regular assessment of cardiac symptoms and electrocardiographic abnormalities. Genetic diagnosis of TNNI3 is valuable in identifying clinically unaffected mutation carriers at risk of disease development and facilitates accurate management and counseling.

Elevated serum CA 19-9 levels in hepatobiliary cystadenoma with mesenchymal stroma. Two case reports with immunohistochemical confirmation

Hepatobiliary cystadenomas with mesenchymal stroma (CMS) are rare tumors. Two cases are reported that illustrate many features of CMS, including polypoid involvement of the common hepatic duct in one case. Both tumors were associated with elevated serum levels of the tumor-associated antigen CA 19-9 but normal levels of carcinoembryonic antigen and alpha-fetoprotein. Immunohistochemical analysis confirmed the presence of CA 19-9 in the epithelial component of the tumor. The implications of these findings are discussed, both in relation to the histogenesis of CMS and its preoperative diagnosis. A minimally elevated level of CA 19-9 was found in only one of five patients with hydatid disease of the liver, an important differential diagnosis in clinical management.