Diagnostic Course Research Articles

Aphthous lesions turned out to be neonatal very early-onset inflammatory bowel disease: a case report

Neonatal diagnosis of inflammatory bowel disease (IBD) proves challenging due to its non-specific symptoms. A term-born neonate showing states of inflammation and aphthae was treated for sepsis and candidiasis before being diagnosed with interleukin-10 receptor deficiency and consecutive IBD. The patient was finally successfully treated by stem cell transplantation. The case illustrates the difficulties of the diagnostic course in IBD as it may mimic other diseases and emphasizes the importance of considering rare differential diagnoses early in the diagnostic process.

Features of Magnetic Resonance Diagnostics of Tenosynovial Giant Cell Tumor (Pigmented Villonodular Synovitis)

Aim. Demonstrate the features of magnetic resonance diagnostics of tenosynovial giant cell tumor.Materials and Methods. Using magnetic resonance imaging, we identified patients with tenosynovial giant cell tumor of the knee joint, describing the diagnostic features and clinical course of diffuse and local forms of the tumor.Results. Specific MRI patterns of tenosynovial giant cell tumor are hemosiderin deposits, villous and nodular growths of the synovium of the knee joint, joint effusion and bone erosion.Conclusion. Тenosynovial giant cell tumor is a rare mesenchymal neoplasm arising from the synovium of joints and tendon sheaths, disabling young able-bodied people. Magnetic resonance imaging, being the “gold” standard for radiological diagnostics, helps to identify specific patterns.

Meckel's diverticulum: A challenging diagnosis

AbstractObjectivesThis single‐center, cross‐sectional study aims to elucidate the clinical presentation, diagnostic evaluation, and outcomes in a subset of pediatric patients with atypical and/or challenging presentations of Meckel's diverticulum.MethodsWe conducted a single‐center cross‐sectional study on children diagnosed with Meckel's diverticulum at Children's Health in Dallas, Texas between 2010 and 2022. We identified 11 patients aged 0–17‐years‐old with confirmed Meckel's diverticulum who presented with atypical symptoms and/or a challenging diagnostic course. Patient demographics, symptoms at presentation, diagnostic workup, time to diagnosis, management, and outcomes were collected. Descriptive statistics were utilized.ResultsEleven patients (n = 8, 73% male) were included in the study with an average age of 10.5 years (range: 1–17 years). The mean time interval from initial presentation of symptoms to diagnosis was 8 months (range: 0–33 months). Barriers to diagnosis of Meckel's diverticulum identified in our study included atypical presentations, negative or nonconfirmatory Meckel scan results, negative surgical findings, and competing differential diagnoses.ConclusionMeckel's diverticulum is a challenging diagnosis and should be considered even if initial evaluation is negative as certain patients exhibit atypical presentations that necessitate surgical intervention for diagnosis.

Elderly age and tuberculosis: diagnostics difficulties and course features

ABSTRACT. The clinical observation of an elderly female patient, who was being treated at the Zaporizhzhia Regional Phthisiopulmonology Clinical Treatment and Diagnostic Center, is presented, the features of the diagnostics and the course of the tuberculosis process is determined. The clinical case demonstrates the difficulty of timely tuberculosis diagnostics due to numerous comorbidities in an elderly woman. Most cases of tuberculosis in the elderly are associated with the reactivation of old specific foci, which can be explained by age-related changes in the immune system. In this case, the difficulty of the timely tuberculosis diagnostics was associated with non-specific symptoms of the active process and the absence of bacterial excretion 2 years ago in an elderly woman. As a result, a diagnosis of malignant neoplasm of the upper lobe of the left lung was mistakenly made. The outcomes of the disease led to the development of fibrocavernous tuberculosis with multidrug resistance. The woman had a good adherence to the treatment, which gave a positive result.

Management of medial luxation of the shoulder joint in toy-breed dogs using an antiluxation pin placed lateral to the supraspinatus muscle tendon: 20 limbs (2017-2022).

To describe the clinical and diagnostic findings, surgical procedures, and clinical course of dogs with medial shoulder luxation (MSL) treated with a novel method using an antiluxation pin. 18 client-owned toy-breed dogs (20 treated limbs). Toy-breed dogs with MSL were treated with the antiluxation pin (2017 to 2022). The collected data included signalment, cause of luxation, preoperative and follow-up clinical evaluations with lameness scores (LMS), and radiographic and/or CT findings. Toy Poodle was the most represented breed (17 of 18 dogs [94.4%]). The median age was 10 years. One of 18 dogs had a history of trauma. Medial luxation was confirmed in all limbs using radiography or palpation under general anesthesia. Reluxation occurred in 3 limbs at 1, 4, and 30 days after surgery, respectively. Of these 3 limbs, 1 limb underwent revision to replace the original pin and the other 2 limbs underwent no further treatment. One limb with persistent pain underwent 2 revision surgeries to adjust the pin orientation 30 and 72 days after the initial surgery. Eighteen limbs remained unluxated after the initial or revision surgery until the final follow-up (median, 18.5 months; range, 1 to 63 months). The LMS at the final follow-up for the 18 unluxated limbs (mean, 0.5) was significantly lower than the preoperative LMS (mean, 4.5) (P < .01). A novel method of the antiluxation pin provides an alternative surgical treatment for MSL in toy-breed dogs that is minimally invasive and technically simple.

New mutations and new phenotypes: a case of Major Histocompatibility Complex Class II Deficiency.

Major Histocompatibility Complex Class II Deficiency is a rare primary immunodeficiency disease with autosomal recessive inheritance. It is characterized by the absence of Major Histocompatibility Complex Class II molecules on the surface of immune cells. In this article, we will present a four-month-old baby girl who presented with recurrent fever and progressive exacerbation of respiratory symptoms since a month ago. Relevant examinations suggested pancytopenia, a decrease in CD4 and CD3 ratio, and CD4/CD8 inversion, hypogammaglobulinemia, and diagnosis of hemophagocytic syndrome during treatment which all led to the consideration of the presence of immunodeficiency diseases, and the diagnosis of Major Histocompatibility Complex Class II Deficiency was made by peripheral blood whole-exon sequencing (WES). This case is remarkable in that it reveals features of hemophagocytic syndrome in a Major Histocompatibility Complex Class II Deficiency infant, most probably caused by cytomegalovirus, which rarely reported before, and the Major Histocompatibility Complex Class II Deficiency caused by a novel mutation site in the RFXANK gene which never reported, and it also describes the diagnostic and therapeutic course in detail. In addition, we have summarized the information related to Major Histocompatibility Complex Class II Deficiency triggered by mutations in the RFXANK gene to assist clinicians in early recognition and diagnosis.

Trichophyton erinacei infection in humans: a case report and a literature review.

Trichophyton (T.) erinacei is a rare but emerging zoonotic dermatophyte that is rarely isolated as a human pathogen, with only a few cases extensively described in the literature. We conducted a systematic search to identify eligible articles reporting demographics, clinical characteristics, and the therapeutic approach regarding T.erinacei infection in humans. 168 patients affected by T.erinacei were reported in the international literature between inception and November 2023. Only 56 cases (32.1%) were fully described. The median age at diagnosis was 26years, the female/male ratio was around 2:1. The main source of the disease was the hedgehog. The infection presented with a combination of erythema, scaly plaques, pustules, papules, vesicles, oedema, and erosion; the most common locations were the hands and the head. The most frequently conducted examination was fungal culture, but gene sequencing and mass spectrometry improved both speed and precision in the most recent diagnostic course. Topical clotrimazole and systemic terbinafine were the most chosen treatment. Trichophytonerinacei should be considered in patients with erythematous scaly patches and recent contact with hedgehogs. Terbinafine should be considered as a first-line effective treatment, griseofulvin and azoles could be considered valid alternatives.

Nephrology Partnership for Advancing Technology in Healthcare (N-PATH) Erasmus+ project: The Renal Expert in Vascular Access (REVAC) module.

The Renal Expert in Vascular Access (REVAC) is one of the four modules of the Nephrology Partnership for Advancing Technology in Healthcare (N-PATH) project, the first European-wide advanced training course in diagnostics and interventional nephrology, funded by Erasmus+ Knowledge Alliance, a European Commission program. The N-PATH primary goal was to train 40 young European nephrologists in both theoretical knowledge and practical skills related to interventional nephrology. The REVAC module focused on the crucial aspects of vascular access (VA) care in nephrology practice, as a complementary training path to the actual residency program. The aim was to provide nephrology fellows with comprehensive knowledge and skills related to VA management. The methodology was based on face-to-face meetings and online learning, modern facilities, experienced tutors, cutting edge simulators, augmented reality tools by means of a multidisciplinary international faculty and hands-on-courses. A feedback survey reported the experience of fellows who attended the REVAC module, confirming the positive impact on their ongoing nephrology training. We are confident that this project will revitalize their nephrology careers and will help training the next generation of nephrologists; they will be able to manage VA needs with the help of multi-disciplinary teams to safely optimize the care of hemodialysis patients.

Robotic-assisted ectopic mediastinal parathyroidectomy: a single institution experience and operative review for the thoracic surgeon.

Parathyroidectomy remains the only definitive cure for primary hyperparathyroidism (PHPT). In rare cases, ectopic hyperfunctioning glands are located in the mediastinum, necessitating a thoracic surgical approach. The objective of this project was to review a single high-volume institutional experience of this presentation, with specific attention to the use of a robotic-assisted thoracic surgery (RATS) approach. This was a single-center, 5-year retrospective cohort study. All patients who underwent RATS mediastinal mass resection (MMR) for PHPT at the University of Colorado Anschutz Medical Campus were targeted for inclusion. Patient cases were reviewed for demographics, history, operative data, laboratory values, and postoperative course. Eight patients underwent RATS-MMR for PHPT between 2018-2023. Median [interquartile range] operative time was 178 [138-213] minutes, and length of stay was 2.0 [1.5-2.0] days. One patient experienced post-operative chylothorax requiring dietary modification. There were no other 30-day complications or readmissions. Final pathology confirmed intrathymic parathyroid tissue in all patients. All patients achieved cure of PHPT. The robotic-assisted approach has low morbidity and associated hospital length of stay and can be safely used to cure PHPT. As this is a rare pathology with an infrequently utilized surgical approach, it is important to critically discuss the diagnostic evaluation and operative course, aimed at educating the thoracic surgeon who may encounter and assist in the management of these patients.

Lung neuroendocrine tumors

Neuroendocrine tumors are a large and heterogeneous group of tumors that develop from neuroendocrine cells. To define this type of tumor, the well-established term “carcinoid” continues to be used in clinical practice for years. In accordance with the characteristics of embryogenesis, three groups of neuroendocrine tumors are distinguished. The source of these tumors are neuroendocrine cells, which are located in almost all organs. The term itself and the concept of “neuroendocrine cell” have historically been repeatedly reassessed. In 1969 A. Pearse, based on the ability of these cells to utilize and decarboxylate amine precursors, introduced the term “APUD system” (aminoprecursor uptake and decarboxylation). Neuroendocrine cells, although they can secrete the same substances as neurons, but, unlike the latter, they participate not in topical, but in paracrine regulation of organs and tissues. They are located in all human organs and are the most important tool for maintaining homeostasis.In recent years, more and more publications have appeared about the frequent localization of neuroendocrine tumors in the lungs, and new approaches to the diagnosis of this pathology. This review presents the diagnostic features and clinical course of pulmonary neuroendocrine tumors.

Sarcomatoid carcinoma of the urinary bladder: a case report

Background: Sarcomatoid carcinoma of the urinary bladder (SCUB) is a rare and aggressive malignancy with limited clinical data due to its infrequency. This case report contributes to the existing knowledge by presenting a patient with SCUB and highlighting the diagnostic workup, treatment course, and clinical outcomes. Case presentation: A 57-year-old man presented with lower urinary tract symptoms and hematuria. Imaging revealed a 4 cm bladder tumor. Transurethral resection of bladder tumor (TURBT) confirmed pT2 sarcomatoid carcinoma. Radical cystoprostatectomy with bilateral pelvic lymphadenectomy and urinary diversion was performed. Pathological examination confirmed SCUB with no lymph node involvement. The patient remains disease-free at two years follow-up. Conclusion: SCUB is an uncommon malignancy with a poor prognosis. Radical cystectomy is the preferred treatment; however, outcomes remain poor. A multimodal approach may offer improved outcomes for locally advanced diseases. Further research is needed to establish more effective treatment strategies.

Application of the combined problem-based learning and case-based learning teaching in urinalysis course of diagnostics

Background Traditional lecture-based teaching is the most commonly used approach in Chinese medical curricula. Novel teaching methods that are more educationally effective and academically satisfactory are warranted. Problem-based Learning (PBL) and case-based learning (CBL) have been widely researched and utilized worldwide. This study aimed to evaluate the effectiveness and acceptability of combined PBL and CBL methods in second-year undergraduate students in the nephrology experiment module of the Medical Diagnostics course. Methods We enrolled 150 second-year clinical medicine students from the First Clinical College of Sun Yat-sen University. Participants were assigned to either the PBL or CBL combined group (92 students, two classes) or the traditional group (58 students, one class) for a Urine Analysis course. The learning effects were compared through a post-class quiz, and student evaluations and perceptions of PBL and CBL methods were gathered via an anonymous questionnaire. Results The combined PBL and CBL group outperformed the traditional lecture group, with significantly higher post-class quiz scores (P&lt;0.001). Regarding acceptance and perception, 67.4% found PBL-CBL to be more acceptable, 78.3% believed it stimulated critical thinking, 82.6% agreed that it enhanced practicaleth abilities, and 83.7% believed it led to better learning outcomes. Regarding open feedback, 51.1% appreciated its clinical connection, 34.8% recognized its effectiveness, 32.6% found it novel and interesting, and 30.4% noted positive learning encouragement. Conclusion The PBL-CBL binding mode is a feasible and effective teaching mode, which can help improve both medical teaching quality and academic satisfaction of students.

From cells to cars: Developing an electrochemical techniques and diagnostics course for new battery engineers

We are a team of three battery researchers and engineers who are working with The Electrochemical Society to develop an "electrochemical techniques and diagnostics for batteries" curriculum, comprised of an online course and an in-person workshop. With a combined 40+ years of experience working in battery research and engineering, ranging from academia to electric vehicle manufacturing, we have noticed that there exists a gap in applied electrochemistry knowledge needed to train the rapidly expanding workforce of battery engineers and scientists. In this backstory, we explain the origin story of our team, our motivations for developing the course and the things we have learned in working together. We share our insights into the emerging electric vehicles business and why we believe electrochemistry education will shape the future of this industry.

Clinical and functional characterization of a novel KCNJ11 (c.101G > A, p.R34H) mutation associated with maturity-onset diabetes mellitus of the young type 13.

This study aimed to describe the clinical features, diagnostic and therapeutic course of a patient with MODY13 caused by KCNJ11 (c.101G > A, p.R34H) and how it contributes to the pathogenesis of MODY13, and to explore new therapeutic targets. Whole-exome sequencing was used to screen prediagnosed individuals and family members with clinically suspected KCNJ11 mutations. Real-time fluorescence quantitative PCR, western blotting, thallium flux of potassium channels, glucose-stimulated insulin secretion (GSIS), and immunofluorescence assays were used to analyze the regulation of insulin secretion by the KCNJ11 mutant in MIN6 cells. Daily blood glucose levels were continuously monitored for 14 days in the proband using the ambulatory blood glucose meter (SIBIONICS). Mutation screening of the entire exon of the gene identified a heterozygous KCNJ11 (c.101G > A, p.R34H) mutation in the proband and his mother. Cell-based GSIS assays after transfection of MIN6 using wild-type and mutant plasmids revealed that this mutation impaired insulin secretory function. Furthermore, we found that this impaired secretory function is associated with reduced functional activity of the mutant KCNJ11 protein and reduced expression of the insulin secretion-associated exocytosis proteins STXBP1 and SNAP25. For the first time, we revealed the pathogenic mechanism of KCNJ11 (c.101G > A, p.R34H) associated with MODY13. This mutant can cause alterations in KATP channel activity, reduce sensitivity to glucose stimulation, and impair pancreatic β-cell secretory function by downregulating insulin secretion-associated exocytosis proteins. Therefore, oral sulfonylurea drugs can lower blood glucose levels through pro-insulinotropic effects and are more favorable for patients with this mutation.

Metabolomics in Children Cow's Milk Protein Allergy: Possible Contribution from a System Biology Approach?

One of the most frequent triggers of food anaphylaxis in pediatric age but also among the most common, early, and complex causes of childhood food allergy is cow's milk protein allergy (CMPA). The diagnostic course and management of this allergy is defined in a complex clinical picture due to several factors. First of all, the epidemiological data are not uniform, mainly as a consequence of the diagnostic methodology used in the various studies and the different age ranges covered. In addition, there is the complexity of terminology, since although CMPA traditionally refers to immune-mediated reactions to cow's milk, it is a term encompassing numerous clinical features with different symptoms and the requirement for specific treatments. Moreover, the differential diagnosis with other very frequent diseases, especially in the first year of life, such as gastro-esophageal reflux disease or colic, is still complex. This can result in misdiagnosis and incorrect treatment, with harmful health consequences and significant economic repercussions. In this context, the combination of several omics sciences together, which have already proved useful in clarifying the allergenicity of cow's milk proteins with greater precision, could improve the diagnostic tests currently in use through the identification of new, more specific, and precise biomarkers that make it possible to improve diagnostic accuracy and predict the patient's response to the various available treatments for the recovery of tolerance.

Visceral Leishmaniasis (VL) Clinical Presentation, Laboratory Findings, Treatment Options and Outcome.

Black disease, also known as visceral leishmaniasis (VL), is a parasitic illness caused by various Leishmania species. The risk of morbidity and mortality increases with delayed diagnosis and treatment. Early VL diagnosis and fast appropriate treatment are critical issues in endemic areas. This study was a retrospective cross-sectional study to investigate the diagnostic and therapeutic course of patients admitted with the diagnosis of VL in the Children's Medical Center (CMC) Hospital, Tehran, Iran. All cases of VL in patients under the age of 18 hospitalized between the years 2012 to 2022 were enrolled. Twenty-seven patients were enrolled with an average age of 28.13 months with the majority of females (51.8%). Common clinical signs were fever (96.2%) and splenomegaly (92.59%). However, lymphadenopathy was rare. The largest number of patients was from Tehran Province, followed by Ardabil, Khuzestan, Gilan, and Alborz provinces. The most common hematological abnormalities were anemia (85.1%) and thrombocytopenia (44.4%). In accordance with the treatment strategy, liposomal amphotericin B and amphotericin B deoxycholate were given to 11 and 5 patients, respectively. Eleven of them received glucantime. The average length of hospitalization for liposomal amphotericin B was 15.36 ± 12.49 days. In comparison with glucantime (18.38 ±10.26 days) and amphotericin B deoxycholate (20.20± 6.18 days), liposomal amphotericin B group hospitalization was shorter than others were. VL should be included in the differential diagnosis of any child who presents with fever, splenomegaly, and anemia. Concerning the treatment strategy in this study, liposomal amphotericin B had more efficiency and shorter hospitalization duration.

Exploration and Application of Three-stage Strengthening Mode based on Massive Open Online Course to Improve Students’ Competence in Electrocardiogram Interpretation Skills

Electrocardiogram (ECG) is a widely common diagnostic test in clinical practice. However, research has shown that residents and medical students cannot analyze ECG skillfully. In this study, we explore a three-stage strengthening mode based on massive open online course (MOOC) to improve students’ competence in ECG interpretation skills. We carry out the first stage in a diagnostics course, in which instructors adopted online and offline blended mode for the teaching method of ECG with clinical medicine students in grade 2018 based on MOOC. We compare scores of ECG interpretation skills for 91 students in grade 2018 with 81 students in grade 2016 to evaluate the effect. The second stage concerns studying internal medicine, in which we divide students in grade 2018 into two groups with 49 students in group A and 42 students in group B. Group A strengthened their ECG interpretation skills when learning about heart diseases. The third stage pertains to rotation in the internal medicine department in the internship period. Some students in group A continued to receive intensive training. Students in group B had no reinforcement arrangement in the second and the third stage. Students in grade 2018 took graduation tests at the end of their internship. We use the scores on ECG interpretation skills in the graduation examination to evaluate the strengthening effect between group A and group B. The result of the first stage shows that scores on ECG interpretation skills in the final exam in grade 2018 were 19.32 ± 4.62 points, which is higher than those of grade 2016, whose points were 16.89 ± 5.30 (total scores in both grades were 30 points). Difference is statistically significant. Scores on the graduation examination in group A were 38.89 ± 16.81 points, and those of group B were 26.86 ± 15.43 points (total score was 60 points), with statistical difference between these two groups. The three-stage strengthening mode based on ECG MOOC is an effective method to improve students’ ECG interpretation skills. Results show that an online and offline blended teaching strategy is superior to the traditional lecture method. Repeated practice is necessary for improving ECG interpretation competence. Students in the strengthening program group had better grades in the graduation examination.

Delayed Diagnosis of Locally Acquired Lyme Disease, Central North Carolina, USA.

Healthcare providers in North Carolina, USA, have limited experience diagnosing and managing Lyme disease because few cases occur annually statewide. We outline the prolonged diagnostic course for a patient with locally acquired Lyme disease in North Carolina. This case highlights the need for greater awareness and professional education.

Impact of artificial intelligence on the diagnosis, treatment and prognosis of endometrial cancer.

Endometrial cancer is one of the most prevalent tumours in females and holds an 83% survival rate within 5 years of diagnosis. Hypoestrogenism is a major risk factor for the development of endometrial carcinoma (EC) therefore two major types are derived, type 1 being oestrogen-dependent and type 2 being oestrogen independent. Surgery, chemotherapeutic drugs, and radiation therapy are only a few of the treatment options for EC. Treatment of gynaecologic malignancies greatly depends on diagnosis or prognostic prediction. Diagnostic imaging data and clinical course prediction are the two core pillars of artificial intelligence (AI) applications. One of the most popular imaging techniques for spotting preoperative endometrial cancer is MRI, although this technique can only produce qualitative data. When used to classify patients, AI improves the effectiveness of visual feature extraction. In general, AI has the potential to enhance the precision and effectiveness of endometrial cancer diagnosis and therapy. This review aims to highlight the current status of applications of AI in endometrial cancer and provide a comprehensive understanding of how recent advancements in AI have assisted clinicians in making better diagnosis and improving prognosis of endometrial cancer. Still, additional study is required to comprehend its strengths and limits fully.

Hyperglycemic Crisis: Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar State

The two most severe metabolic consequences of diabetes mellitus (DM) are diabetic ketoacidosis (DKA) and hyperosmolar hyperglycemia state (HHS). Type 1 and type 2 diabetics are both susceptible to these illnesses. Hyperglycemia, ketone body production, and metabolic acidosis are symptoms of DKA. Hyperosmolality, high blood glucose increase, and little to no ketosis are signs of HHS. Despite significant advancements, it has been difficult to come to a consensus on the diagnostic criteria and course of therapy for both disorders. Another difficulty is that there is a large overlap between these two extremities of the hyperglycemia crisis continuum. A thorough biochemical and clinical patient evaluation, along with prompt diagnosis and therapy, has long been recognized as being essential for symptom relief. Intravenous insulin, fluid replacement, and concurrent management of the triggering causes all form the cornerstones of therapy. Large-scale research that contributes to the definition of how hyperglycemic crises should be handled is lacking globally. A thorough analysis of the pathogenesis, diagnosis, and treatment of DKA and HHS will be provided in this article.