Diagnosis Of Exclusion Research Articles

Validation of a one-step reverse transcription PCR detection method for Tobamovirus maculatessellati, in tomato (Solanum lycopersicum L.) and pepper (Capsicum annuum L.)

The solanaceous-infecting tobamoviruses are closely related and hence it can be challenging to detect them using serological or molecular methods, particularly when present in a mixed infection. Tomato mottle mosaic virus (ToMMV) is a newly identified tobamovirus that poses serious risk to tomato (Solanum lycopersicum L.) and pepper (Capsicum annuum L.) production worldwide. Species-specific identification is crucial to prevent the entry and establishment of plant pathogens and protect the billion-dollar tomato industry. In this study, we report the validation of a previously described reverse transcription polymerase chain reaction (RT-PCR) assay that amplifies a 289 bp fragment of the coat protein coding region of ToMMV genome. This assay has 100% specificity for ToMMV. Inclusivity tests were performed against a diverse collection of six ToMMV isolates in North America. Exclusivity tests showed no cross reaction with eleven non-target viruses and seven viroids commonly found on tomato and pepper host plants. The detection limit of the one-step RT-PCR was determined to be at 10-5 (or 0.25pg/μl) dilution in plant samples, with its amplicon sequence confirmed by Sanger sequencing. The RT-PCR can detect ToMMV consistently on contaminated seed or leaf tissues. This validated assay could serve as a standard method for detecting ToMMV in seed health testing and for plant disease diagnosis, thus to prevent inadvertent introduction and spread of this emerging and economically important tobamovirus in tomato and pepper fields.

T cell and autoantibody profiling for primary immune regulatory disorders.

Limited clinical tools exist for characterizing primary immune regulatory disorders (PIRD), which are often diagnoses of exclusion. Increased CD4 + CXCR5 + PD1 + circulating T follicular helper (cTfh) cell percentages have been identified as a marker of active disease in some, but not all, autoimmune disorders. To develop a diagnostic approach that combines measurements of cellular and serologic autoimmunity. We recruited 71 controls and 101 pediatric patients with PIRD with autoimmunity. Flow cytometry was used to measure CD4 + CXCR5 + T cells expressing the chemokine receptors CXCR3 and/or CCR6. IgG and IgA autoantibodies were quantified in 56 patients and 20 controls using a microarray featuring 1616 full-length, conformationally intact protein antigens. The 97.5 th percentile in the controls serves as the upper limit of normal for percentages of cTfh cells, CD4 + CXCR5 + T cells expressing CXCR3 and/or CCR6, and autoantibody intensity and number. We found that 27.7% of patients had increased percentages of CD4 + CXCR5 + PD1 + cTfh cells and 42.5% had increased percentages of CD4 + CXCR5 + cells expressing CXCR3 and/or CCR6. Patients had significantly more diverse IgG and IgA autoantibodies than controls and 37.5% had increased numbers of high-titer autoantibodies. Integrating measurements of cTfh cells, CD4 + CXCR5 + T cells with CXCR3 and/or CCR6, and numbers of high-titer autoantibodies had 71.4% sensitivity (95% CI: 0.5852 - 0.8158) and 85% specificity (95% CI: 0.6396 - 0.9476) for patients with PIRD compared to controls. By integrating CD4 + T cell phenotyping and total burden of autoantibodies, this approach provides additional tools for the diagnosis of PIRD lacking clinical diagnostic criteria. Primary immune regulatory disorders (PIRD) are heterogenous and often diagnoses of exclusion if no genetic cause is identified. Current diagnostic tools do not combine cellular and serologic measures of autoimmunity. Measuring activated CD4 + T cells expressing the chemokine receptors CXCR3 and/or CCR6 and the total number of circulating autoantibodies can enhance detection of autoimmunity in PIRD beyond the capabilities of currently used tools. This study identifies new indicators of autoimmunity that can be feasibly implemented and leveraged for improving the diagnosis of PIRD.

The ITP diagnostic challenge.

Despite numerous advances, the diagnosis of immune thrombocytopenia (ITP) remains a diagnosis of exclusion. This commentary analyses and contextualizes the recent report from Garabet etal. that MicroRNA-199a-5p could be used as a diagnostic marker for ITP. Commentary on: Garabet etal. MicroRNA-199a-5p may be a diagnostic biomarker of primary ITP. Br J Haematol 2025 (Online ahead of print). doi: 10.1111/bjh.19987.

Impact of Thrombopoietin Receptor Agonists on Pathophysiology of Pediatric Immune Thrombocytopenia.

Immune thrombocytopenia (ITP) in pediatric patients is a common cause of isolated thrombocytopenia. Various pathophysiological mechanisms are implicated in ITP pathogenesis, including the production of autoantibodies against components of platelets (PLTs) by B-cells, the activation of the complement system, phagocytosis by macrophages mediated by Fcγ receptors, the dysregulation of T cells, and reduced bone marrow megakaryopoiesis. ITP is commonly manifested with skin and mucosal bleeding, and it is a diagnosis of exclusion. In some ITP cases, the disease is self-limiting, and treatment is not required, but chronic-persistent disease can also be developed. In these cases, anti-CD20 monoclonal antibodies, such as rituximab and thrombopoietin (TPO) receptor agonists, can be used. TPO agonists have become standard of care today. It has been reported in the published literature that the efficacy of TPO-RAs can be up to 80% in the achievement of several end goals, such as PLT counts. In the current literature review, the data regarding the impact of TPO agonists in the pathogenesis of ITP and treatment outcomes of the patients are examined. In the era of precision medicine, targeted and individualized therapies are crucial to achieving better outcomes for pediatric patients with ITP, especially when chronic refractory disease is developed.

Treatment outcomes of primary salivary gland squamous cell carcinoma: A multi-institutional retrospective study in Japan.

Primary salivary gland squamous cell carcinoma (SCC) is extremely rare, accounting for 0.3-10.4 % of all salivary gland malignancies. Due to this rarity, the clinical characteristics of primary salivary gland SCC remain unelucidated. In the present study, we conducted a multi-institutional retrospective analysis-including a large number of cases compared with that of previous studies-to reveal the prognosis, treatment outcomes, and prognostic factors of primary salivary gland SCC. The clinical course of patients with primary salivary gland SCC between January 2012 and December 2022 was retrospectively investigated. Thirteen university hospitals and cancer centers in Japan participated in this study. The diagnosis of primary salivary gland SCC was based on the following criteria: 1) pathological diagnosis of SCC and exclusion of other histological types and 2) exclusion of metastatic SCCs from other organs. Progression-free and overall survival rates were compared using Kaplan-Meier curves and log-rank tests. Treatment outcomes were assessed using univariate and multivariate analyses with Cox proportional hazards models. In total, 723 patients with salivary gland cancer were admitted to the participating institutions. Among them, 63 patients (8.7 %) were diagnosed with primary salivary gland SCC. The clinical courses of the 58 patients that received definitive treatment and had complete data were analyzed. Primary treatments included surgery in 35 patients (60.3 %), chemoradiotherapy in 16 (27.6 %), radiotherapy in 5 (8.6 %), and chemotherapy in 2 (3.4 %). Complete response and objective response rates to chemoradiotherapy were 62.5 % and 93.8 %, respectively. Five-year progression-free and overall survival rates were 30.1 % and 60.1 %, respectively. Five-year progression-free survival rates for each treatment were 37.7 % (surgery), 33.0 % (chemoradiotherapy), 0 % (radiotherapy), and 0 % (chemotherapy). Overall survival rates were 71.5 % (surgery), 39.5 % (chemoradiotherapy), 53.3 % (radiotherapy), and 0 % (chemotherapy). Multivariate analysis revealed that age ≥70 years, N classification ≥1, and surgery were independent predictors of progression-free (hazard ratios: 3.75, 2.46, and 0.33, respectively) and overall survival (hazard ratios: 3.11, 6.24, and 0.32, respectively). Adjuvant radiotherapy significantly improved progression-free and overall survival in patients with stage Ⅳ cancer or positive surgical margins. Log-rank tests revealed no significant difference between patients with or without elective neck dissection in progression-free and overall survival; however, a relatively high percentage of occult lymph node metastasis (50.0 %) was observed. Surgical resection is a favorable first-line treatment option in salivary gland SCC, and definitive chemoradiotherapy would show acceptable complete and objective response rates.

Severe Mitral Regurgitation–Induced Acute Heart Failure due to Nonbacterial Thrombotic Endocarditis in a Patient With Urothelial Carcinoma Recurrence

Nonbacterial thrombotic endocarditis is a rare condition characterized by the formation of noninfectious vegetations on the heart valves. It is related with systemic embolic phenomena occurring predominantly in advanced cancer stages, particularly adenocarcinomas. It is a diagnosis of exclusion based on the clinical context, echocardiographic findings of a vegetation, and negative blood cultures, and distinction between infective endocarditis is challenging. We report a case of a 66‐year‐old woman, with history of previously treated breast and urothelial carcinoma, presenting with constitutional syndrome and pulmonary thromboembolism. Computed tomography scan revealed systemic embolic phenomena and retroperitoneal lymphadenopathies. A vegetation in the mitral valve constituted a finding on echocardiography, causing severe mitral regurgitation, which led to severe acute heart failure and culminated in patient’s death. Subsequent results of immunohistochemistry of the lymph node biopsy yielded the recurrence of urothelial carcinoma.

Energy of Functional Brain States Correlates With Cognition in Adolescent-Onset Schizophrenia and Healthy Persons.

Adolescent-onset schizophrenia (AOS) is relatively rare, under-studied, and associated with more severe cognitive impairments and poorer outcomes than adult-onset schizophrenia. Neuroimaging has shown altered regional activations (first-order effects) and functional connectivity (second-order effects) in AOS compared to controls. The pairwise maximum entropy model (MEM) integrates first- and second-order factors into a single quantity called energy, which is inversely related to probability of occurrence of brain activity patterns. We take a combinatorial approach to study multiple brain-wide MEMs of task-associated components; hundreds of independent MEMs for various sub-systems were fit to 7 Tesla functional MRI scans. Acquisitions were collected from 23 AOS individuals and 53 healthy controls while performing the Penn Conditional Exclusion Test (PCET) for executive function, which is known to be impaired in AOS. Accuracy of PCET performance was significantly reduced among AOS compared with controls. A majority of the models showed significant negative correlation between PCET scores and the total energy attained over the fMRI. Severity of psychopathology was correlated positively with energy. Across all instantiations, the AOS group was associated with significantly more frequent occurrence of states of higher energy, assessed with a mixed effects model. An example MEM instance was investigated further using energy landscapes, which visualize high and low energy states on a low-dimensional plane, and trajectory analysis, which quantify the evolution of brain states throughout this landscape. Both supported patient-control differences in the energy profiles. The MEM's integrated representation of energy in task-associated systems can help characterize pathophysiology of AOS, cognitive impairments, and psychopathology.

Biological testing unification for hemodialysis membranes evaluation: A step towards standardization.

Current hemodialysis treatments can cause adverse effects, many of which are linked to the membranes used in the process. These issues are being addressed through new materials and technologies, making it urgent to establish minimum guidelines for evaluating such membranes. This review proposes standardizing the biological tests and variables to evaluate the performance of new membranes, aiming to replicate hemodialysis conditions closely. The tests were categorized into protein adsorption, protein transmission, platelet adhesion, platelet activation, blood coagulation times, hemolysis, complement activation, and cytotoxicity. For protein adsorption, static tests are recommended as an initial step to rule out membrane adhesion, followed by dynamic tests that must be conducted using a crossflow system (>250mL/min flow) and a solution mimicking real conditions (BSA, lysozyme, trypsin, pepsin, creatinine, urea, albumin, fibrinogen, and γ-globulin). Protein transmission tests must employ dynamic conditions, using human blood or platelet-rich plasma for a minimum time of 3.5h. Complement activation should be tested using human blood and ELISA assays to detect C3, C5 TCC, and SC5b-9. Blood coagulation times (APTT, TT, FT, TCT, and TAT) should be measured with platelet-poor and platelet-rich plasma. Hemolysis tests should transition from water bath to continuous mode for at least 3.5h. Cytotoxicity tests should compare the MTT assay with other methods (Alamar Blue, Lactate Dehydrogenase Assay, Flow Cytometry, or Trypan Blue Exclusion Test) and use different cell types for comprehensive validation. By implementing these minimum biological tests, membrane evaluations would more accurately reflect the real-world applications, ensuring biocompatibility, effectiveness, and efficiency.

E-cigarette, or Vaping, product use-Associated Lung Injury (EVALI): a diagnosis of exclusion

EVALI (e-cigarette or vaping product use-associated lung injury) is a relatively new disease with complex differential diagnosis, as it mimics the clinical and pathological picture of various pulmonary diseases. The diversity of clinical manifestations of the disease described in the literature necessitates for treating EVALI as a diagnosis of exclusion and requires accumulation and understanding of the data to develop effective methods for diagnosis and patient management. The aim of the work was to present a clinical observation of vaping-associated lung injury (EVALI) in an adolescent as a diagnosis of exclusion. Conclusion. The presented clinical case demonstrates vaping-associated lung injury in a 15-year-old girl and the importance of high-quality collection of medical history for timely and correct diagnosis.

Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency

Common variable immunodeficiency is a diagnosis of exclusion in immunodeficient patients with increased susceptibility to infections, hypogammaglobulinemia, deficient response to vaccination, or low percentages of switched memory B cells. In low- and middle-income countries, the elucidation and study of molecular defects in these patients may take decades. To elucidate the genetic defect conferring impaired immunity in a patient diagnosed with common variable immunodeficiency. The clinical phenotype was extracted from the clinical records. NKG2D expression in natural killer cells was evaluated by flow cytometry. The whole exome sequencing was performed in the patient and his parents. Sanger sequencing confirmed the pathogenic variant. The patient suffered from upper respiratory and urinary tract infections, autoimmune hemolytic anemia, and hepatopathy. NKG2D was decreased in the different blood subpopulations of natural killer cells. Serologic and viral load studies for Epstein-Barr virus were positive, but no B-cell malignancies have been documented. The patient presented a nonsense variant in the exon 3 of the MAGT1 gen (c.409C>T, rs387906724) in the X chromosome, resulting in an amino acid substitution of arginine for a stop codon in the position 137 of the protein (R137X). The mother also carried the pathogenic variant in a heterozygous state. We report the clinical case of the first Colombian male patient with a pathogenic variant in MAGT1 associated with XMEN disease. Genetic counseling and followup are recommended for families with similar cases to allow prompt detection of new cases.

Retinal Vascular Complications in Cocaine Abuse: A Case Report and a Literature Review.

This comprehensive review examines the ocular vascular complications of cocaine use, focusing on its effects on retinal vasculature and inflammation. A rare case of bilateral frosted branch angiitis (FBA) in a 48-year-old man with a history of intranasal cocaine abuse is presented as an illustrative example to stimulate discussion. The case highlights severe retinal ischemia and vascular sheathing, with no identifiable infectious or autoimmune cause, ultimately complicated by systemic vascular events. Integrating this case with a review of the literature, we discuss cocaine's vasoconstrictive and immunomodulatory effects and their role in retinal pathology, including vasculitis, vascular occlusions, hemorrhages, and optic neuropathy. Although often a diagnosis of exclusion, and with rare and poorly understood consequences, this review underscores the importance of considering cocaine abuse in the differential diagnosis of complex retinal presentations.

Retinal Migraine: from History to the Present Day

Retinal migraine is a rare migraine variant, initially described in 1882 as ‘ophthalmic megrim’. Since then, various terms have been used in the literature, such as “ocular migraine”, “monocular migraine”, and “migraine of the anterior visual pathway”. The lack of an unified definition led to controversy and potential confusion in defining the diagnosis. Later, the International Classification of Headache Disorders (ICHD-3) defined retinal migraine as repeated attacks of monocular visual disturbance, including scintillation, scotoma or blindness, associated with migraine headache, which are fully reversible. Retinal migraine should be considered a diagnosis of exclusion that requires ruling out other causes of transient monocular vision loss. The purpose of this review is to analyze the data on the prevalence, pathogenesis, clinical presentation, and differential diagnosis of retinal migraine reported in the literature.

Guidelines for the standardized diagnosis and treatment of non-specific orbital inflammation (2024).

Non-specific orbital inflammation (NSOI) is a non-infectious orbital inflammation. Although it is often considered the most common diagnosis in orbital biopsies, it is an exclusionary diagnosis that requires ruling out systemic disease or other possible causes. Its characteristics include acute orbital signs and symptoms, including pain, proptosis, periorbital edema, chemosis, diplopia, and visual impairment. The clinical manifestations and histological findings of NSOI are heterogeneous, without specific diagnostic criteria or treatment guidelines, which poses significant challenges for diagnosis and treatment. This guideline provides a detailed description of the definition, classification, diagnosis, and treatment of NSOI.

Rare Intravascular Involvement of Pleomorphic Dermal Sarcoma Seen During Mohs Micrographic Surgery.

Pleomorphic dermal sarcoma (PDS) and atypical fibroxanthoma (AFX) are rare mesenchymal tumors that share similar clinical, histological, and immunohistochemical characteristics. Careful histopathological examination of a biopsy specimen that includes subcutaneous fat remains the preferred way to differentiate between these tumors. AFX is limited to dermal invasion, whereas PDS demonstrates deeper invasion. Moreover, PDS may present with tumor necrosis and high-grade histological findings, such as lymphovascular and perineural invasion, features absent in AFX. However, like PDS, AFX is a diagnosis of exclusion, and an exhaustive immunohistochemistry panel is recommended to distinguish these tumors from other spindled cell tumors in the differential diagnosis. The authors present the case of an 86-year-old man with biopsy-suspected AFX who was referred for Mohs micrographic surgery for tumor excision. During Mohs, the tumor was observed to have invaded deeply into the subcutaneous tissue and galeal aponeurosis, aligning more closely with a PDS. The diagnosis of PDS was confirmed using en face processing during Mohs surgery, which captured the intravascular involvement of a solitary vessel. Differentiating between PDS and AFX is important because PDS is a more aggressive tumor, with a higher rate of local recurrence and metastasis, and requires closer monitoring.

Lung damage associated with e-cigarette smoking (EVALI)

This article describes clinical cases of lung damage associated with e-cigarette smoking, EVALI (from E-cigarette and Vaping use-Associated Lung Injury) with a brief review of the literature. With the proliferation and popularization of electronic cigarettes, lung injury associated with their smoking is becoming more common. The term EVALI emerged in 2019 during the largest outbreak in the United States of America (USA), at which time criteria for verifying the diagnosis were developed. This review provides descriptions of a variety of vaping devices and smoking liquids, presents possible mechanisms of lung tissue damage resulting from smoking e-cigarettes, as well as traumatic effects from exploding lithium vape batteries. The most frequent clinical manifestations are respiratory (dyspnea, cough, chest pain, hemoptysis), constitutional (fever, general weakness) and gastroenterologic (nausea, vomiting, diarrhea, abdominal pain) symptoms. The radiologic and histologic pictures of the disease are nonspecific and varied. The diagnosis of “vape disease” includes a wide range of investigations and is a “diagnosis of exclusion”. There are no standardized approaches in the treatment of EVALI, but most patients require oxygen therapy, respiratory support, and the use of systemic glucocorticosteroids. In the current literature there is no information about chronic lung damage against the background of smoking electronic cigarettes. The presented article describes clinical cases of acute lung tissue damage and long-term consequences as a result of vaping. Thus, EVALI is an emerging disease requiring further surveillance and study.

The role of PET/CT SCAN in addressing autoinflammatory diseases; A case report of a young man presenting with fever, splenomegaly and exanthem.

Adult-onset Still's disease (AOSD) is an uncommon autoinflammatory syndrome characterized by quotidian fever, arthritis, evanescent exanthem and splenomegaly. Lymphadenopathy is present in about a half of patients; it is usually symmetrical with the cervical area being most commonly involved. When constitutional symptoms are present, an extensive work-up should be performed in order to exclude hematological malignancies, such as lymphoma. A 38-year-old male is presented due to fatigue and high-grade fever that first appeared a month ago. He did also refer night sweats, arthralgias and an evanescent erythema on the trunk and anterior thigh area. Serology testing for bacteria and viruses as well as autoimmune rheumatic diseases was requested. Whole body computed tomography (CT) scan was ordered and displayed a marginal lymph node in the right hilum and smaller ones in the axillary region. Positron emission tomography/CT (PET/CT) with fluorine-18-fluoro-deoxy-glucose (18F-FDG) showed hypermetabolic lymph nodes, with the right upper internal jugular lymph node being the most dominant, as well as diffusely increased 18F-FDG uptake by bone marrow and spleen, posing in the differential diagnosis a neoplastic disease of the hematopoietic tissues. Further laboratory testing showed high ferritin levels. It was decided to procced with biopsy of the aforementioned hypermetabolic internal jugular lymph node and bone marrow. Histopathological examination did show hyperreactivity and no malignant cells neither in the lymph node nor in the bone marrow. Adult-onset Still's disease is a rare disorder and it is a diagnosis of exclusion. High-grade fever along with arthralgias, splenomegaly, high serum ferritin levels and the presence of exanthem should pose high in the differential the AOSD. In this case, PET/CT guided the anatomical location for lymph node biopsy in order to differentiate AOSD from lymphoma. The dissociated increased 18F-FDG uptake from the cervical and axillary lymph nodes is characteristic of AOSD.

ПОСЛЕРОДОВАЯ ПЕРИПАРТАЛЬНАЯ КАРДИОМИОПАТИЯ КАК РЕДКАЯ ПРИЧИНА СЕРДЕЧНОЙ НЕДОСТАТОЧНОСТИ: СЛУЧАЙ ИЗ ПРАКТИКИ

Abstract. Introduction. Peripartum cardiomyopathy is a rare, idiopathic myocardial disease occurring during pregnancy or within 5 months after delivery and characterized by the decreased contractility of the left ventricular myocardium. Insufficient awareness of physicians about this rare pathology creates prerequisites for the description of interesting clinical observations. This article presents a case follow-up (for 5 months) of female patient R. with diagnosed peripartum cardiomyopathy at the age of 31 years after childbirth. Before and during pregnancy, no risk factors or pathology of cardiovascular system, or myocardium exposure to toxic substances were identified. Patient R. first sought medical attention 3 months after her fourth delivery (in total, there were 5 pregnancies and 4 deliveries without pathologies) and prolonged breastfeeding, symptoms of heart failure appeared and rapidly progressed. Aim. To present a clinical case of peripartum cardiomyopathy developed in the postpartum period. Materials and Methods. A clinical case of peripartum cardiomyopathy of patient R. was analzed, who voluntarily signed the informed consent for examination and permission to anonymously publish personal medical information. Results and Discussion. Peripartum cardiomyopathy is a diagnosis of exclusion; therefore, an important stage is differential diagnosis with manifestations of pre-eclampsia and myocarditis. Untimely diagnosis of peripartum cardiomyopathy, in some cases, is due to lack of physicians’ awareness. An important criterion for diagnosing peripartum cardiomyopathy is the absence of any previously diagnosed cardiovascular diseases; therefore, the first priority is to exclude heart valve defects and dilated cardiomyopathy. In addition, it is necessary to exclude pregnancy-mediated hemodynamic changes, as well as differential diagnosis with such conditions as myocarditis, Takotsubo syndrome, pulmonary embolism, acute coronary syndrome, and human immunodeficiency virus. Conclusions. Thus, the factors contributing to the development of peripartum cardiomyopathy in patient R. were as follows: Age over 30 years, 4 childbirths, iron deficiency anemia. Three diagnostic criteria have formed the basis for the diagnosis of peripartum cardiomyopathy: 1) debut of heart failure within 5 months after delivery; 2) no newly diagnosed heart disease more than 1 month before delivery or any other causes of chronic heart failure; and 3) left ventricular dysfunction according to the findings of echocardioscopy and magnetic resonance imaging with the ejection fraction decreased down to 13 %.

Diagnosis of the anatomic preconditions of intermittent testicular torsion

Introduction. In a series of studies, patients with intermittent testicular torsion (ITT) have a 29% to 50% chance of gonad loss. The «bell clapper» type testicular fixation abnormality is a predisposing factor for TT. In cases of ITT, episodes of hemiscrotal pain attack are not a sufficient reason to scrotal revision, which makes it important to develop imaging techniques to document the presence of anatomical preconditions for ITT.Objective. To find a methodology beneficial in solving the problem of documenting the anatomical preconditions for ITT.Materials & methods. To diagnose anatomical preconditions of ITT, we have developed a method of ultrasound. Ultrasound can be used to prove the presence of a “bell clapper» deformity by visualizing the spermatic cord proximal to the testis surrounded by fluid. Fix the testis with a slight traction in a caudal direction while moving the fluid inside the sheaths upward. Place the transducer over the spermatic cord in a horizontal position. The fluid is displaced abnormally high along the spermatic cord within the peritoneal vaginal sheath and surrounds the spermatic cord on all sides, allowing good visualization of the spermatic cord above the testis within the testicular sheaths. If we continue with the bell analogy, the resulting ultrasound picture can be called «bell clapper rod» symptom. A patient with an ultrasound-derived «bell clapper rod» symptom can be diagnosed with a testicular fixation anomaly that creates anatomic conditions for intermittent testicular torsion. The ultrasound arguments obtained allow us to confidently form indications for testicular fixation.Results. Eight patients were examined according to the described method, all of them showed the symptom of ‘bell clapper rod’, and testicular fixation was recommended. The average age of the patients was 12.4 years. The average time after scrotal pain resolution was 8 hours (from 1 to 18 hours). All eight patients had intraoperative verification of abnormal testicular fixation of the ‘bell clapper rod’.Conclusion. A patient with the acute hemiscrotal pain and then its spontaneous disappearance with the ultrasound-derived «bell clapper rod» symptom can be diagnosed with a testicular fixation anomaly that creates anatomic conditions for ITT. Preoperative diagnosis based on ultrasound combined with clinical data transforms the ITT from a diagnosis of exclusion to a diagnosis based on proven anatomical preconditions for testicular torsion. The ultrasound arguments obtained allow us to confidently form indications for testicular fixation.

Perceptions and Practices of Primary Care Providers in Europe and the US in the Diagnosis and Treatment of Irritable Bowel Syndrome: A Multinational Survey.

The knowledge and proficiency of primary care practitioners (PCPs) in diagnosing and managing irritable bowel syndrome (IBS) remain generally low and variable internationally. This variability is partly due to a lack of familiarity with the Rome Foundation diagnostic criteria and treatment guidelines for this condition. We conducted an electronic survey of PCPs in the United States and nine European countries to assess their understanding of IBS pathophysiology; the use of Rome IV criteria in diagnosis, knowledge of and frequency in prescribing various recommended treatments; and the likelihood of referring patients with suspected IBS to subspecialists. Most PCPs in the United States and Europe perceive IBS as a diagnosis of exclusion rather than a definitive diagnosis. They also believe IBS is underdiagnosed in primary care and challenging to diagnose confidently. The majority of PCPs consider diet as a crucial component of IBS management. Notably, US PCPs reported greater confidence than their European counterparts in recommending dietary interventions such as increased dietary fiber, a low FODMAP diet, and gluten restriction. Conversely, both groups exhibited moderate to high confidence in recommending over-the-counter treatments. European PCPs showed greater confidence in treating IBS with antispasmodics and secretagogues, while US PCPs expressed greater confidence in prescribing neuromodulators. Additionally, US PCPs were more likely to refer patients with suspected IBS to a gastroenterologist, whereas both US and European PCPs showed similar referral patterns to dietitians and referred very few patients to mental health providers. Both US and European PCPs reported that IBS is moderately to extremely difficult to treat effectively and emphasized the importance of a strong and longitudinal doctor-patient relationship in managing the condition. Despite the Rome Foundation recommendations and criteria to support a positive diagnosis of IBS, most PCPs still rely on exclusionary investigations such as endoscopy and a serologic workup, while a significant percentage suggest referring patients to gastroenterologists.

T (1;12) (p31; q13) cytogenetic abnormality in a patient of idiopathic hypereosinophilic syndrome: A case report

Hypereosinophic syndrome (HES) is a heterogenous group of disorders comprising various etiology. Idiopathic HES is diagnosis of exclusion after morphological, radiological and molecular investigations. Cytogenetic analysis remains an important diagnostic test available in HES. The patient reported here presented with hyper eosinophilia with cardiac, gastrointestinal and pulmonary organ involvement. Chromosomal abnormality of t (1;12) (p31; q13) was found in conventional karyotyping (unstimulated culture, GTG banding) on bone marrow sample. Patient improved after short course of corticosteroid and imatinib mesylate a tyrosine kinase inhibitor (TKI).