Diagnostic Options Research Articles

Clinical Dilemmas for the Diagnosis and Treatment of Helicobacter pylori Infection in Children: From Guideline to Practice.

Helicobacter pylori infection is often acquired in early childhood. While most infected children remain asymptomatic, H. pylori can cause chronic gastritis, gastric ulceration, and, in the long term, gastric cancer. This article aimed to review different diagnostic and treatment options and discuss the challenges associated with applying the current guidelines in the real world. Relevant articles published from 2015 to August 2023 in the English language in PubMed and Medline electronic databases were extracted using subject headings and keywords of interest to the topic. References of interest in the selected articles were also considered. Invasive and noninvasive diagnostic tests have advantages but also disadvantages and limitations according to the clinical setting and age of the child. Guidelines recommend not performing diagnostic testing in children with long-lasting or recurrent abdominal complaints or cases of a family history of severe disease caused by H. pylori. However, parents regularly consult with the explicit demand to test for H. pylori because of them or a close family member experiencing severe gastric disease caused by H. pylori. In some situations, it may be challenging for the healthcare professional to stick to evidence-based guidelines and not consider "patient-centered care," with the risk of putting a trustful relationship in danger. Physicians may find it challenging not to perform diagnostic tests for H. pylori and prescribe eradication treatment in specific clinical settings when maintaining a trusting patient-physician relationship by applying this "patient-centered care" method when evidence-based guidelines recommend differently.

Molecular alterations in mucinous ovarian tumors – a review

Abstract Mucinous ovarian tumors (MOTs) include primary and secondary neoplasms, the latter of which contribute for 80% of all cases. The most common site of origin for secondary MOTs is the gastrointestinal tract. Proper differentiation between primary and metastatic lesions is essential for effective treatment. Currently, definitive diagnosis is made based on post-operative histopathological examination with the use of immunohistochemical markers. However, the final diagnosis presents a challenge because of the histopathological similarity between mucinous metastases and primary ovarian lesions. Generally, treatment consists of cytoreductive surgery and adjuvant chemotherapy, even though malignant tumors are found to be chemo-resistant. Prognosis depends on the type of the tumor, presence of metastases and patient’s general condition. Further research on the genetic background of MOTs is necessary for the better understanding of their origin and more effective treatment. This review aims to summarize recent advances in the field of the molecular features of MOTs and their implications for the diagnostic pathways and potential adjuvant therapy options. The analysis of molecular alterations might not only be an important prognostic factor, but also a useful diagnostic tool in distinguishing between primary mucinous tumors and extra-ovarian metastases or other subtypes of epithelial ovarian neoplasms. Moreover, the examination of genetic mutations seems to increase the efficiency of targeted therapy. However, more research evaluating such therapies in pre-clinical models is needed to improve the results of the diagnostics and treatment of MOTs.

The kidney-skeletal muscle-heart axis in chronic kidney disease: implications for myokines.

Myokines are signalling moieties released by the skeletal muscle in response to acute and/or chronic exercise, which exert their beneficial or detrimental effects through paracrine and/or autocrine pathways on the own muscle and through endocrine pathways in many other organs (e.g. the heart). Interestingly, alterations in myokines have been described in patients with heart failure (HF) that are associated with adverse structural and functional left ventricular remodelling and poor cardiac outcomes. Recent experimental and clinical studies have shown that the muscle regulation of a number of myokines is altered in chronic kidney disease (CKD) thus representing a new molecular aspect of the pathophysiology of skeletal myopathy present in patients with CKD. Muscle dysregulation of myokines may contribute to a number of disorders in non-dialysis and dialysis patients with CKD, including the high risk of developing HF. This possibility would translate into a range of new diagnostic and therapeutic options. In fact, the measurement of circulating myokines opens their possible usefulness as biomarkers to personalize exercise training and pharmacological therapies for the prevetion and treatment of HF in patients with CKD and skeletal myopathy. This review will analyze information on some myokines that target the heart and are altered at the level of skeletal muscle and circulation in patients with CKD.

Combination of Conventional Ultrasound with Quantitative and Qualitative Analyses of CEUS for the Differentiation of Benign and Malignant Breast Solid Lesions: A Modified Breast Cancer Model

ObjectiveBreast cancer has become one of the main diseases threatening women’s health and lives. Ultrasound (US) is the first diagnostic option for several patients because of its non-radiation, convenient, and low-cost features. Conventional US combined with contrast-enhanced US (CEUS) has improved diagnostic accuracy, while due to the presence of numerous parameters, no international consensus on diagnostic criteria could be attained. Therefore, it is necessary to develop a reliable diagnostic model with the involvement of a few parameters while increasing the diagnostic accuracy. MethodsData from 265 patients, including conventional US, CEUS, and postoperative pathological results, were collected. 21 parameters from the conventional US and both qualitative and quantitative aspects of CEUS were analyzed through univariate and multivariate logistic regression analyses. Specific parameters with independent influential factors were identified. A nomogram was subsequently developed to visually represent the contribution and linear weighting of each parameter. The effectiveness of the new model was assessed through calibration curves and the Hosmer-Lemeshow goodness-of-fit test. ResultsSix independent influential factors for breast malignant tumors were identified, including homogeneous echo, lesion vascularity, enhancement mode, enhancement shape, nourishing vessels, and slope. The area under the curve (AUC) values in the training and test datasets were 0.933 and 0.860, respectively. The modified model exhibited satisfactory diagnostic accuracy and operability. ConclusionThe modified model, despite incorporating fewer parameters, maintained diagnostic accuracy. It is exhibited as a convenient, effective, and easily deployable model for diagnosing malignant breast nodules.

Other Diagnostic Tests for Young-Onset Type 2 Diabetes Mellitus

We have read with interest the article entitled “A Cross-sectional Study to Evaluate Beta Cell Function in Individuals with Newly Diagnosed Young-Onset Type 2 Diabetes Mellitus and its Complications,”1 elevated C-peptide levels are indicative of both insulin resistance and beta cell malfunction. These factors are directly linked to the development of complications associated with young-onset Type 2 Diabetes Mellitus (YO-T2DM), including obesity, hypertension, and diabetic kidney disease. The present letter aims to expand the current diagnostic testing options for early detection of YO-T2DM.

Impact of pre-conception diet on female infertility

Introduction and purpose Infertility is defined as a condition characterized by the inability to become clinically pregnant after 12 months of regular, unprotected sexual intercourse, or because a person's ability to reproduce, either as an individual or with his or her partner, is impaired. Infertility affects between 8% and 12% of couples of reproductive age worldwide. Fertility decline in women begins as early as age 25-30. The purpose of this article is to present the problem of infertility in women, possible diagnostic options, methods of prevention and treatment of infertility. We draw attention to the important role of a proper lifestyle, including diet in the fight against infertility. State of knowledge The article reviews the literature on infertility with special attention to the problem of infertility in women. Knowing the causes of infertility, it is possible to implement targeted diagnosis and then treatment. Attention is paid to the influence of proper diet on female fertility. Material and method A review of the literature available on PubMed and Google Schoolar was conducted. We focused on presenting different causes of infertility in women, diagnostic options, treatment methods depending on the cause of the problem. We paid special attention to proper diet and its impact on female fertility. Summary In our review, we presented how big a problem female infertility is. We managed to describe the current state of knowledge on the definition, epidemiology of fertility and infertility, and the main causes of female infertility. Based on a number of studies, we have proven the beneficial effects of a proper lifestyle with emphasis on a proper diet.

Artificial intelligence support in health policymaking

Abstract The role of AI in the health industry is complex, but in general, it functions like a supercomputer and thinks like a human. Although a few problems need to be addressed to ensure things run well, we are confident that they will be fixed quickly and that new AI technologies will quickly assist the health-care industry. Policy creation is a comprehensive process that includes a detailed analysis of the disease epidemiology, prevalence by region, existing diagnostic tools and treatment options, and future action plans to control, eradicate, or eradicate the disease from a nation, a region, or the entire world. AI can be collecting data, accurately inputting it, evaluating it, and projecting pandemics or endemics in the future. Health policy creation and the health-care industry can benefit significantly from using AI techniques.

Variants of biotechnological drugs in dermatology : Status quo and future

Biotechnological drugs, so-called biopharmaceuticals, have complex structures, have special physicochemical characteristics and are subject to special regulatory laws. In addition to recombinant monoclonal antibodies, proteins and fusion proteins, alarge number of biotechnological variations have been developed, of which antibody fragments, nanobodies, peptides, and antibody-drug conjugates in particular have found their way into clinical application. In addition to strategies for the treatment of oncological diseases, chronic inflammatory diseases in particular are being addressed, which are also becoming of great importance in dermatology. The advantages of biopharmaceuticals are increasingly being recognised and developed as part of special strategies for topical application. Due to the rapid development of molecular medicine, new targets for biopharmaceuticals are constantly being identified, and pharmacokinetically favourable biotechnological molecules are being created using refined methods. It can be assumed that this development will lead to even more highly innovative therapeutic and diagnostic options.

Chimerism and mosaicism shape our physical constitution and impact medical conditions.

ABO blood group discrepancies in healthy individuals were caused by body-wide chimerism and mosaicism. They can be evaluated with new diagnostic options for disease-related cell clones that are typically associated with mosaicism. The observations raise the attention for sporadic mixed-field observations of any blood group antigen. Commentary on: Dauber etal. Body-wide chimerism and mosaicism are predominant causes of naturally occurring ABO discrepancies. Br J Haematol 2024; 205:1188-1196.

The tip of the reproductive screening iceberg: ‘Every mother and every fetus matters’

Introduction: This commentary expands on the routine pregnancy screening recommended during pregnancy, with genomic diagnosis and treatment following a positive fetal screening test indicating possible morbidity. Materials and Methods: Evidenced-based review article. Results/Discussion: An evidenced-based tool is identified for preconception risk assessment for maternal education; clinical service prioritization is promoted allowing for the ethnic and effective care for reproductive and pediatric care services; tertiary fetal diagnostic and treatment options are summarized; fetal therapy, as a quaternary service, is reviewed; human resource training is discussed. Fiscal considerations and barriers for fetal genomic and congenital malformation treatment are discussed. Conclusion: Prioritized healthcare service, preconception risk estimate counselling, genomic diagnosis, and fetal therapy for congenital malformations can reduce the neonatal and childhood morbidity but there may be fiscal and access to care barriers for many families.

ARTHROSCOPIC TREATMENT OF ANTERIOR INFERIOR ILIAC SPINE IMPINGEMENT: FIVE-YEAR CLINICAL OUTCOMES

There is a limited literature available describing the various diagnostic modalities and treatment options for the management of subspine impingement (SSI). We developed a study to evaluate the clinical improvement at 1 year and 5 years, with iHOT 33 and HOS hip scores.(1) Do patients with subspine compression improve with arthroscopic treatment clinically at short term follow-up (1 year)? (2) Is the improvement maintained in the mid-term (5 years)?43 young patients with subspine compression (prominent anterior inferior iliac spine) treated arthroscopically between January 2010 and December 2021 were included. Patients completed the iHOT33, HOS-SPORT and HOS-ADL questionnaires before surgery, 1 year and 5 years follow up. We evaluated pre and postoperative differences at one year and at 5 years. Minimum Clinically Significant Difference (MCID) and the Substantial Clinical Benefit (SCB) were used to stablish clinical improvement.Mean age was 37.38 years and 66% were males. Almost 75% and 70% of our patients exceed the MCID and the SCB respectively in all the questionnaires after 1 year-follow up. However, at 5 years-follow up, nearly 70% and 65% of the patients exceeded MCID and SCB respectively.We demonstrate that arthroscopic treatment of subspine impingement as an effective treatment for Subspine impingement. However, it is necessary larger sample size and longer follow up period to analyze the long-term results to demonstrate this treatment as the “gold standard”.

Inflammatory cytokine signalling in vulvovaginal candidiasis: a hot mess driving immunopathology.

Protective immunity to opportunistic fungal infections consists of tightly regulated innate and adaptive immune responses that clear the infection. Immune responses to infections of the vaginal mucosa by Candida species are, however, an exception. In the case of vulvovaginal candidiasis (VVC), the inflammatory response is associated with symptomatic disease, rather than that it results in pathogen clearance. As such VVC can be considered an inflammatory disease, which is a significant public health problem due to its predominance as a female-specific fungal infection. Particularly, women with recurrent VVC (RVVC) suffer from a significant negative impact on their quality of life and mental health. Knowledge of the inflammatory pathogenesis of (R)VVC may guide more effective diagnostic and therapeutic options to improve the quality of life of women with (R)VVC. Here, we review the immunopathogenesis of (R)VVC describing several elements that induce an inflammatory arson, starting with the activation threshold established by vaginal epithelial cells that prevent unnecessary ignition of inflammatory responses, epithelial and inflammasome-dependent immune responses. These inflammatory responses will drive neutrophil recruitment and dysfunctional neutrophil-mediated inflammation. We also review the, sometimes controversial, findings on the involvement of adaptive and systemic responses. Finally, we provide future perspectives on the potential of some unexplored cytokine axes and discuss whether VVC needs to be subdivided into subgroups to improve diagnosis and treatment.

Thyroid nodules: diagnosis and management.

Thyroid nodules, with a prevalence of almost 25% in the general population, are a common occurrence. Their prevalence varies considerably depending on demographics such as age and sex as well as the presence of risk factors. This article provides a comprehensive overview of the prevalence, risk stratification and current management strategies for thyroid nodules, with a particular focus on changes in diagnostic and therapeutic protocols that have occurred over the past 10 years. Several sonography-based stratification systems (such as Thyroid Imaging Reporting and Data Systems (TIRADS)) might help to predict the malignancy risk of nodules, potentially eliminating the need for biopsy in many instances. However, large or suspicious nodules necessitate cytological evaluation following fine-needle aspiration biopsy for accurate classification. In the case of cytology yielding indeterminate results, additional tools, such as molecular testing, can assist in guiding the management plan. Surgery is no longer the only treatment for symptomatic or malignant nodules: active surveillance or local ablative treatments might be beneficial for appropriately selected patients. To enhance clinician-patient interactions and discussions about diagnostic options, shared decision-making tools have been developed. A personalized, risk-based protocol promotes high-quality care while minimizing costs and unnecessary testing.

Updates to Male Infertility: AUA/ASRM Guideline (2024).

In 2023 the American Urological Association (AUA) requested an Update Literature Review (ULR) to incorporate new evidence generated since the 2020 publication of this Guideline. The resulting 2024 Guideline Amendment addresses updated recommendations to provide guidance on the appropriate evaluation and management of the male partner in an infertile couple. In 2023, the Male Infertility Guideline was updated through the AUA amendment process in which newly published literature is reviewed and integrated into previously published guidelines. An updated literature search identified 4093 new abstracts. Following initial abstract screening, 125 eligible study abstracts met inclusion criteria. On data extraction, 22 studies of interest were included in the final evidence base to inform the Guideline amendment. The Panel developed evidence- and consensus-based statements based on an updated review to provide guidance on evaluation and management of male infertility. These updates are detailed herein. This update provides several new insights, including revised thresholds for Y-chromosome microdeletion testing, indications for pelvic MRI imaging in infertile males, and guidance regarding the use of testicular sperm in nonazoospermic males. This Guideline will require further review as the diagnostic and treatment options in this space continue to evolve.

Role of Machine Learning Assisted Biosensors in Point-of-Care-Testing For Clinical Decisions.

Point-of-Care-Testing (PoCT) has emerged as an essential component of modern healthcare, providing rapid, low-cost, and simple diagnostic options. The integration of Machine Learning (ML) into biosensors has ushered in a new era of innovation in the field of PoCT. This article investigates the numerous uses and transformational possibilities of ML in improving biosensors for PoCT. ML algorithms, which are capable of processing and interpreting complicated biological data, have transformed the accuracy, sensitivity, and speed of diagnostic procedures in a variety of healthcare contexts. This review explores the multifaceted applications of ML models, including classification and regression, displaying how they contribute to improving the diagnostic capabilities of biosensors. The roles of ML-assisted electrochemical sensors, lab-on-a-chip sensors, electrochemiluminescence/chemiluminescence sensors, colorimetric sensors, and wearable sensors in diagnosis are explained in detail. Given the increasingly important role of ML in biosensors for PoCT, this study serves as a valuable reference for researchers, clinicians, and policymakers interested in understanding the emerging landscape of ML in point-of-care diagnostics.

A multidisciplinary team and patient perspective on omission of surgery after neoadjuvant systemic therapy for early breast cancer: A European Society of Surgical Oncology (ESSO) Research Academy survey

BackgroundSurgical de-escalation aims to reduce morbidity without compromising oncological outcomes. Trials to de-escalate breast cancer (BC) surgery among exceptional responders after neoadjuvant systemic therapy (NST) are ongoing. Combined patient and clinician insights on this strategy are unknown. MethodsThe European Society of Surgical Oncology Young Surgeons Alumni Club (EYSAC) performed an online survey to evaluate the perspective of multidisciplinary teams (MDTs) on omission of surgery (“no surgery”) following complete response to NST for early BC. The aim was to identify MDT considerations and perceived barriers to omission of BC surgery. Patient insights were obtained through a focused group discussion (FGD) with four members of the patient advocacy group, Guiding Researchers and Advocates to Scientific Partnerships (GRASP). ResultsThe MDT survey had 248 responses, with 229 included for analysis. Criteria for a “no surgery” approach included: patient's tumor and nodal status before (39.7 %) and after (45.9 %) NST and comorbidities (44.3 %). The majority chose standard surgery for hypothetical cases with a complete response to NST. Barriers for implementation were lack of definitive trials (55.9 %), “no surgery” not being discussed in MDTs (28.8 %) and lack of essential diagnostic or therapeutic options (24 %). Patients expressed communication gaps about BC surgery, lack of trust regarding accuracy of imaging, fear of regret and psychosocial burden of choosing less extensive surgery. ConclusionsBefore accepting “no surgery” after complete response to NST, MDTs and patients need level 1 evidence from clinical trials, access to standard diagnostic modalities and treatments. Patient's fear of regretting less surgery need to be acknowledged and addressed.

Utility of rest magnetocardiography in patients presenting to the emergency department with chest pain: A case series on the CardioFlux MCG

BackgroundMagnetocardiography (MCG) may provide a rapid diagnostic option for patients presenting with chest pain in the emergency department (ED). Case summariesThis case series presents two instances from a multicenter study, where MCG could have served as a rapid, non-invasive diagnostic tool for chest pain patients. In both cases, multiple high-sensitivity troponin (hsTn) tests yielded incorrect evidence of ischemia. In the first case, multiple positive hsTn tests led to the patient requiring 23 h of observation care, while MCG rapidly ruled out acute coronary syndrome (ACS). In the second case, MCG revealed findings indicative of cardiac ischemia where serial ECGs did not indicate ischemia and serial hsTns were normal. Subsequent cardiac catheterization confirmed 99 % stenosis in the patient's left main and left anterior descending arteries, necessitating coronary artery bypass grafting (CABG). ConclusionMCG offers a rapid, painless, non-invasive, radiation free assessment for patients presenting with acute chest pain. Integrating MCG into ED workflows has the potential to improve throughput, reduce the need for subsequent patient observation or inpatient admission, and minimize or eliminate the need for other more expensive non-invasive cardiac testing. MCG avoids some of the problems associated with other methods for diagnosing ischemia. MCG does not involve radiation or the use of pharmacologic agents which have a risk for allergic reactions and anaphylaxis, or the need for an intravenous line. Stress tests are frequently contraindicated or unable to be performed in patients on various medications, may require patient cooperation and in the case of exercise stress tests, the patient's capability to exercise. MCG requires no special patient preparation.

How to Use Continuous Glucose Monitoring Efficiently in Diabetes Management: Opinions and Recommendations by German Experts on the Status and Open Questions.

Today, continuous glucose monitoring (CGM) is a standard diagnostic option for patients with diabetes, at least for those with type 1 diabetes and those with type 2 diabetes on insulin therapy, according to international guidelines. The switch from spot capillary blood glucose measurement to CGM was driven by the extensive and immediate support and facilitation of diabetes management CGM offers. In patients not using insulin, the benefits of CGM are not so well studied/obvious. In such patients, factors like well-being and biofeedback are driving CGM uptake and outcome. Apps can combine CGM data with data about physical activity and meal consumption for therapy adjustments. Personalized data management and coaching is also more feasible with CGM data. The same holds true for digitalization and telemedicine intervention ("virtual diabetes clinic"). Combining CGM data with Smart Pens ("patient decision support") helps to avoid missing insulin boluses or insulin miscalculation. Continuous glucose monitoring is a major pillar of all automated insulin delivery systems, which helps substantially to avoid acute complications and achieve more time in the glycemic target range. These options were discussed by a group of German experts to identify concrete gaps in the care structure, with a view to the necessary structural adjustments of the health care system.

Locked-in syndrome post facet joint injection: a case report

Locked-in syndrome (LIS) is a neurological condition characterized by quadriplegia and anarthria with preservation of consciousness. This is a rare, but serious condition as patients with LIS are conscious and possess cognitive function, but cannot move or communicate verbally due to the paralysis of nearly all voluntary muscles in the body. We present a case of a 43-year-old lady who developed locked-in syndrome following a lumbar facet joint injection for chronic spinal pain. The patient developed a sudden onset of quadriplegia and loss of speech around 10 min after the injection. Neurological examination revealed preserved consciousness and alertness, with intact cranial nerve function. Diagnostic work-up, including neuroimaging and laboratory tests, ruled out hemorrhage or other structural lesions. We discuss the potential mechanisms underlying this unexpected complication, explore diagnostic challenges and treatment options. Despite its rarity, this case highlights the importance of careful patient selection, precise procedural technique, and prompt recognition of complications associated with interventional pain procedures. Abbreviations: ITP - immune thrombocytopenic purpura; LIS - Locked-in syndrome; SLE - systemic lupus erythematous; SIJ - sacroiliac joint Keywords: Locked-In Syndrome; Facet Joint Injection; Complication; Neurological; Case Report Citation: Hehsan MR, Ismet S, Hassan SK, Ibrahim K. Locked-in syndrome post facet joint injection: a case report Anaesth. pain intensive care 2024;28(5):951−954. DOI: 10.35975/apic.v28i5.2512 Received: July 22, 2024; Reviewed: September 05, 2024; Accepted: September 05, 2024

Multiple Endocrine Neoplasia Type 1.

Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic disease of autosomal dominant inheritance, with an estimated prevalence of 3-20/100 000. Its main feature is neuroendocrine neoplasia in the parathyroid glands, the endocrine pancreas, the duodenum, and the pituitary gland. In this article, we review the diagnostic and therapeutic options for MEN1-associated tumors. We present an analysis and evaluation of retrospective case studies retrieved from PubMed, guidelines from Germany and abroad, and our own experience. The disease is caused by mutations in the MEN1 gene. Mutation carriers should participate in a regular, specialized screening program from their twenties onward. The early diagnosis and individualized treatment of MEN1-associated tumors can prevent the development of life-threatening hormonal syndromes and prolong the expected life span of MEN1 patients from 55 to 70 years, as well as improving their quality of life. Surgical treatment is based on the location, size, growth dynamics, and functional activity of the tumors. The evidence for treatment strategies is derived from retrospective studies only (level III evidence) and the optimal treatment is often a matter of debate. This is a further reason for treatment in specialized centers. MEN1 is a rare disease, and, consequently, the evidence base for its treatment is limited. Carriers of disease-causing mutations in the MEN1 gene should be cared for in specialized interdisciplinary centers, so that any appreciable tumor growth or hormonal activity can be detected early and organ-sparing treatment can be provided.