Diagnosis Of Syndrome Research Articles

Upfront tumor next-generation sequencing for diagnosis of Lynch syndrome in endometrial cancer

Upfront tumor next-generation sequencing for diagnosis of Lynch syndrome in endometrial cancer

Jejunal Atresia in Preterm, LBW with Clinical Diagnosis of Down Syndrome Undergoing PA Without NICU and Uneventful Recovery

Jejunal atresia is a rare congenital obstruction of the small intestine that necessitates prompt surgical intervention. This paper describes the successful primary anastomosis procedure for jejunal atresia in an 8-month-old premature, preterm, low birth weight baby with a clinical diagnosis of Down syndrome. Interestingly, the patient recovered without incident and did not require support in the neonatal intensive care unit (NICU). In a setting with limited resources, this case demonstrates the viability of treating jejunal atresia with primary anastomosis and emphasizes the criticality of prompt surgical intervention and attentive postoperative care for the best possible results. EWMCJ Vol. 12, No. 1&2, January-July 2024: 104-106

Contemporary characteristics, outcomes and novel risk score for Takotsubo cardiomyopathy: a national inpatient sample analysis

Abstract Background Takotsubo cardiomyopathy (TC) is an established differential diagnosis in the category of myocardial infarction with non-obstructive coronaries with significant recent interest but limited data on prognostication. We reviewed the characteristics and in-hospital outcomes and developed a novel risk score for TC. Methods Adult patients (≥18 years of age) with a diagnosis of acute coronary syndrome (ACS) and TC were identified from the National Inpatient Sample 2016-2020 in the United States. The cohort was divided into ACS with and without TC, and the related baseline data was retrieved. Multivariable regression analysis was performed to identify clinical factors associated with TC and its adverse outcomes and to create a risk-scoring system estimating mortality risk in the TC cohort. Results Amongst 7,219,004 adult patients admitted for ACS, 78,214 (1.0%) were diagnosed with TC, with a mean age of 68.2 years, 64,526 (82.5%) being female, and 5,475 (7.0%, compared with 8.4% for other ACS) in-hospital mortality events. Key factors significantly associated with TC diagnosis were female sex (OR 6.78 (95%CI 6.47-7.09), p<0.001) and chronic heart failure (OR 1.60 (95%CI 1.54-1.66), p<0.001). Based on multivariable analyses for in-hospital mortality in TC patients, a novel risk score was developed, with parameters and score assignment listed in the Figure. The score can be divided into three categories: low risk (-3 to +3), moderate risk (4 to 7), and high risk (8 to 19), and its area under curves for in-hospital mortality were 0.716 in the derivation and 0.726 in the validation cohorts. Conclusion TC remains a high-risk diagnosis in a minority of ACS hospitalizations, with comparable in-hospital mortality rates to other causes of ACS. A novel score was developed to risk stratify TC inpatients with moderate discrimination and internal validation, warranting external validation.Takotsubo Cardiomyopathy Risk Score

Validating Simple Modifications to the Rome IV Criteria for the Diagnosis of Irritable Bowel Syndrome in Secondary Care.

The Rome IV criteria for irritable bowel syndrome (IBS) may be too restrictive for clinical practice and research. To validate the Rome IV criteria and study the diagnostic performance of simple modifications to them. We collected symptom data from consecutive adults with suspected IBS seen in a single clinic. We used a reference standard to confirm IBS (presence of lower abdominal pain associated with altered stool form or frequency; no evidence of organic gastrointestinal disease after limited investigation). We applied Rome IV criteria, but also two modifications. First, we re-incorporated abdominal discomfort but kept symptom frequency required for both abdominal pain and discomfort to at least 1 day per week. Second, we included only abdominal pain but relaxed symptom frequency back to 3 days per month. We calculated sensitivity, specificity and positive and negative likelihood ratios (LRs), with 95% confidence intervals (CIs), for each diagnostic criterion. We recruited 170 patients (76.5% female, mean age 37.9 years). Sensitivity and specificity of the Rome IV criteria were 82.1% and 85.1%, respectively; positive and negative LRs were 5.51 (95% CI 2.95-11.3) and 0.21 (95% CI 0.14-0.31), respectively. Modifying the criteria by relaxing the frequency of abdominal pain to 3 days per month led to the best performance [sensitivity 90.2%, specificity 85.1%, positive LR 6.06 (95% CI 3.25-12.2), and negative LR 0.11 (95% CI 0.07-0.19)]. The Rome IV criteria performed well in diagnosing IBS. A simple modification relaxing the required frequency of abdominal pain improved their performance.

A diagnosis of vascular ehlers-danlos syndrome in childhood: clinical and molecular features of 63 individuals

Abstract Background Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder characterised by generalised severe tissue friability and predominantly caused by pathogenic COL3A1 variants. Diagnosis of vEDS in childhood primarily occurs due to a positive family history and/or the occurrence of an early arterial or intestinal event. However, little has been reported on additional clinical characteristics and management in this population. Purpose This study aims to identify critical drivers of a childhood vEDS diagnosis in individuals diagnosed through a national EDS service. Methods 63 individuals (24 index, 31 females) with a clinical and genetic diagnosis of vEDS in childhood (< 18 years) were identified through a national EDS service, and childhood cardiovascular surveillance was conducted through joint inherited cardiovascular disease clinics. Results Diagnosis of vEDS in childhood occurred at a median age of 7 years (IQR 3-12) and was predominantly driven by positive family history of vEDS (55.5%). Clinical investigations were directly initiated by occurrence of a major clinical event in n=13 (20.6%), and a total of 17 major clinical events in childhood were recorded in 13 individuals. First events occurred at a median age of 11 years (IQR 0-13) and vascular events, though infrequent, occurred as early as the first year of life. In individuals who did not have a positive family history or major event, easy and/or excessive bruising was the most frequent cause for referral (60%). Conclusions This cohort provides further details of the clinical and genetic characteristics of children with vEDS and contributes new insight into drivers of vEDS diagnosis in childhood and the importance of long-term management, including paediatric cardiovascular surveillance.

Implications of age and sex on the diagnostic yield of sudden arrhythmic death syndrome

Abstract Introduction Sudden arrhythmic death syndrome (SADS) refers to an unexplained sudden death with a negative autopsy. An inherited cardiac condition (ICC) may be diagnosed through familial clinical evaluation (FE) or post-mortem genetic testing (molecular autopsy [MA]) or both. We aimed to investigate the impact of age and sex of SADS decedents on the diagnostic yield and aetiology to facilitate a targeted approach to management. Methods Consecutive referrals to a single centre for FE only, MA only or both, following a SADS death were included. First-degree family members underwent comprehensive FE. A panel of 36 cardiac genes was sequenced for MA. A post-mortem diagnosis could be obtained by either FE, MA or both. A Bayesian framework for analysis was performed to identify associations. Results Seven-hundred-and-sixty SADS decedents (66% male; mean age 31±12 years) were investigated. The overall diagnostic yield for an ICC was 37% (32-42%) and 9% (6-12%) for FE and MA cohorts, respectively. In a subset where both MA and FE were performed the diagnostic yield was 45% (38-61%). For each year increase in age, the relative risk of an FE diagnosis of long QT syndrome (LQTS) or Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) versus remaining unexplained declined by 5.6% (RR 0.94 [0.91-0.98]) and by 11% (RR 0.89 [0.81-0.97]), respectively. Females were more likely to have a diagnosis compared with males by both FE (40% [34-45%] vs 36% [31-41%]) and MA (15% [10-21%] vs 6% [3-8%]). Females (8.1% [4.1-13.4%)], were more likely to be diagnosed with LQTS than males (1.2% [0.2-2.7%]) in the MA cohort. Conclusions After a SADS death, the diagnostic yield of comprehensive FE, MA or both in an expert setting can be up to 45%. Younger age of death is associated with greater likelihood of LQTS and CPVT diagnosis with the highest yield in children and adolescents. Female sex in SADS decedents is associated with a higher yield of LQTS in MA. These data highlight the relative utility of FE and MA depending on age and sex for determining underlying diagnoses following SADS deaths.

Diabetes among people with intellectual disabilities vs the general population: a register study

Abstract People with intellectual disabilities have an increased risk of diabetes mellitus (DM). They tend to develop it at earlier ages than the general population, resulting in even higher risks in younger people. However, few studies have separated Type 1 and Type 2 DM. The aim of this study was to assess prevalence of different types of DM in different age groups in relation to the general population. We categorized all people in Skåne, Sweden, as ID (service and support for people with ID and/or autism, or a diagnosis of ID or Down syndrome; n = 14 716) or general population (gPop; excluding family members of people in ID; n = 1 226 955). Data regarding diagnoses of Type 1 (E10 in ICD-10) and Type 2 (E11) DM were collected for 2014-2021. Age at inclusion (i.e., 2014) was considered as children (0-12 years), adolescents (13-18), young adults (19-24), adults (25-44), lower middle-age (45-54), upper middle-age (55-64), older people (65+). The overall prevalence of Type 1 DM was 2.3% in ID and 1.6% in gPop (relative risk [RR] 2.14, 95% confidence interval 1.93-2.38). In ID, the prevalence was below 2% in the youngest age groups, and then increased with age until upper middle-age, where it reached 6.0%. The risk of Type 1 DM among people with ID compared to gPop was relatively stable, with the RR ranging between 1.16 (older people) to 2.83 (adults). For Type 2 DM, the overall prevalence was 7.2% in ID and 7.8% in gPop (RR 2.00, 1.89-2.13). There was a consistent age-related increase in prevalence in ID, from 0.3% among children to 27.4% among older people. The opposite pattern was found for the risk compared to gPop, with the higher risks (RR 3.63-6.98) in the younger age groups and lower risks (RR 1.27-4.41) in the older age groups. Both types of DM were more prevalent among people with intellectual disabilities than in the general population. However, the patterns of prevalence and risk compared to the general population differed for the two types. Key messages • People with intellectual disabilities have increased risk of both Type 1 and Type 2 diabetes mellitus. • Type 1 and Type 2 diabetes mellitus displays different age patterns among people with intellectual disabilities.

Comparison of rapid test for high-sensitivity troponin I with laboratory high-sensitivity troponin T in patients with acute chest pain - a prospective monocentric study

Abstract Background and purpose High-sensitivity troponin (hs-Tn) assays are recommended for routine clinical use for diagnosis of acute coronary syndrome (ACS). However, laboratory hs-TnT can be elevated due to non-cardiac conditions, such as pulmonary embolism, skeletal muscle injury or chronic kidney disease. The aim of our study was to compare the diagnostic accuracy of the bed-side rapid hs-troponin I (hs-TnI) assay with hs-TnT measured by routine laboratory. Methods This prospective monocentric study was conducted at a tertiary hospital outpatient cardiac unit with an emergency clinic for patients with acute symptoms. A total of 129 patients were included between May 2021 and August 2022. Hs-TnI was measured via a bed-side test from whole blood directly in the emergency room, while hs-TnT was measured from plasma through the routine laboratory. Definite ACS was confirmed by coronary angiography. Patients were compared by grouping them into definitive diagnosis of ACS or no ACS. Hs-TnI as well as hs-TnT values were compared for accuracy and predictive values. Routine clinical parameters and comorbidities were documented and compared as well. Agreement between hs-TnI and hs-TnT was assessed by likelihood ratios and Bland Altman plot. Results Overall, 129 patients (65.1% male, 61.8 ± 15.6 years) with acute chest pain were analysed. Median hs-TnI was 7.0 ng/L (IQR: 2.7-15.8), while median hs-TnT was 14 ng/L (IQR: 7.0-31.0). Results for TnI were available faster (average: 1:14 h ± 0:54) compared to TnT. Coronary angiography confirmed ACS in 17 patients (13.2%) displaying significant coronary stenoses requiring intervention. The relative risk of ACS patients to have an elevated hs-TnI result was 6.59 compared to that of 2.29 for the hs-TnT test, meaning that a positive hs-TnI test was a better classifier for validated ACS than that of hs-TnT. Hs-TnI exhibited equivalent negative predictive value to hs-TnT (99%) for definite ACS diagnosis, but had comparatively higher positive predictive value (50.0 vs. 25.8%). Bland Altman plot of hs-TnI versus hs-TnT showed an average difference of -4.6 ng/L (95% CI: -12.4 to 3.2) between the tests. In 39 patients with chronic kidney disease (minimum stage 3a CKD) median hs-TnT (27.0 ng/L, IQR: 16.0-55.0) values were higher than hs-TnI (11.2 ng/L, IQR: 7.5-30.7). Conclusion Bed-side hs-TnI is comparable to hs-TnT with a high degree of agreement. Measurement of troponin I using the rapid bed-side hs-TnI assay possesses a shorter blood-draw-to-result-time than routine troponin T measurement.

Environmental impact analysis of ajmaline challenge protocols: a comparative assessment of carbon footprint reduction in Brugada Syndrome diagnosis

Abstract Background Climate change is an urgent public health crisis that significantly impacts disease development and health outcomes. The 2022 Lancet Countdown Report revealed that healthcare contributes with 5.2% of global emissions, prompting a call for environmentally conscious approaches. In this context, we explored the environmental impact of different ajmaline challenge protocols, aiming to contribute to a more sustainable medical landscape. Purpose This study aims to compare the carbon footprint of two ajmaline challenge protocols commonly used in diagnosing Brugada syndrome, an inherited cardiac disorder associated with sudden cardiac death. Methods We performed a retrospective and observational analysis of adult patients (pts) who underwent ajmaline testing between March 2020 and June 2023 in two hospitals. In Group A (infusion protocol), 1mg/kg of ajmaline diluted in 50 mL of 5% glucose solution was infused in 10 minutes, up to the target dose, until a positive result or termination criteria ensued. In Group B (bolus protocol), 10 mg of ajmaline were administered every 2 minutes, again up to the target dose of 1mg/kg (maximum of 100 mg) or test interruption was indicated. Greenhouse gas emissions resulting from material processing were estimated based on life cycle analyses of each product's composition. Material consumption, waste production, and direct measurement of weights were considered. Results A total of 101 pts were included, 49 pts in group A with a mean age of 47.3±14.3 years old and 52 patients in group B with a mean age of 43.9±16.6 years-old. No complications were observed in either group. Test performance was not evaluated, since both protocols have been previously validated. Group A, utilizing the infusion method, exhibited a higher environmental impact, producing 18.19 kg CO2eq, compared to 6.23 kg CO2eq (p<0.001) in Group B (bolus protocol). Group B not only demonstrated a 66% reduction in CO2eq emissions but also used significantly less plastic (16g vs 102g per test) and glass (1.58 kg vs 1,79Kg), emphasizing its environmental superiority. Conclusions Shifting from infusion to bolus in ajmaline challenge protocols results in a substantial reduction in carbon footprint. Our findings emphasize the potential impact of adopting more dematerialized approaches in cardiac testing, urging healthcare professionals to embrace sustainable practices. Despite the study's limited sample size, the global adoption of such environmentally friendly strategies promises significant positive effects on healthcare's environmental footprint.

Difference in long-term mortality after takotsubo syndrome. The role of gender, socioeconomic profile, and psychological distress

Abstract Background While Takotsubo Syndrome is less common in men, their mortality rates surpass those of women. The influence of socioeconomic factors and psychological distress, remains unexplored in this context. The aim of the study was: 1) to investigate gender differences in socioeconomic profile, and psychological distress in patients with incident Takotsubo Syndrome. And 2) to investigate gender differences in survival in patients discharged alive after incident takotsubo syndrome when taking into account differences in socioeconomic profile and psychological distress. Method A nationwide cohort study using the Danish national registers was performed. All patients discharged alive from Danish hospitals with an incident Takotsubo Syndrome diagnosis between 2008 and 2018 were eligible. Socioeconomic factors covering marital status, cohabitation status, labour market attachment, highest formal education and family income, and psychological distress was explored, and compared. Multivariable Cox-regression models were performed to assess the mortality risk. Results A total of 662 patients with Takotsubo Syndrome were discharged alive from Danish hospitals. Of those, 79 (11.9%) were men with a median age of 67 years (IQR 62-77). Men with Takotsubo Syndrome were socioeconomically disadvantaged compared to their women counterparts, and this disparity was also reflected in mortality rates. Secondly, mortality within three years after an incident Takotsubo Syndrome diagnose was higher among men than women, HR 2.19, 95%CI 1.04-4.61, most pronounced among men with a low family income, HR 2.08, 95% CI 1.03-4.18, and increase in comorbidity score, HR 1.23, 95% CI 1.06-1.43. Conclusion Results unveiled notable gender differences in the socioeconomic profile of individuals diagnosed with TS. Furthermore, the identified gender disparities in mortality can be attributed to socioeconomic and sociodemographic factors, the use of psychiatric medication as an indicator of psychological distress, and a greater comorbidity burden.Survival according to socioeconomy

Spinal hydatid disease-A case report: An uncommon differential diagnosis in LMICs

Background and Importance: With a 0.2–1% incidence, spinal hydatid disease is a very uncommon diagnosis. While it is uncommon in affluent nations, it should be taken into account when making a differential diagnosis for spinal cord compression syndrome, particularly in regions where it is prevalent. Case Presentation: We report a case of hydatid illness of the spine. A 52-year-old man presented with lower extremity discomfort and spastic paraparesis, trouble urinating, and back pain and edema. He had at the level of the 12th thoracic to third lumbar vertebrae (Th12-L3) with paraspinal extension. The patient was treated with four months of antiparasitic therapy and two surgical resections performed by general surgeons. Histological analysis showed pieces of fibrous tissue exhibiting granulomatous inflammation; however, no evidence of acid-resistant bacteria or PAS-positive chitin membrane was found. The existence of bacteria following therapy has not been confirmed by the parasitological investigation of the lesions. Clinical discussion: Primary spinal hydrodatidosis is a rare condition that affects about 0.2–1% of the population. Conclusion: Due to rarity of this disease, early discovery and timely treatment are critical, and this diagnosis should be considered when generating a differential diagnosis for spinal cord compression syndrome.

Diagnosis of myelodysplastic syndromes: the classic and the novel.

The Myelodysplastic syndromes (MDS) are a heterogenous group of clonal bone marrow (BM) stem cell myeloid neoplasms, characterized by bone marrow (BM) dysplasia, macrocytic anemia or cytopenia with a tendency for leukemic transformation. The suspicion of MDS is raised by a typical but not specific clinical picture and routine labs, but the gold standard for MDS diagnosis is still BM examination with the presence of uni-or multi-lineage dysplasia and blast percentage, together with exclusion of other reasons. Cytogenetics is also a part of the diagnostic process. Flow cytometry and genetics are helpful but are not always mandatory for MDS diagnosis. This review summarizes the current steps in the diagnostic approach for a patient suspected of having MDS. We also describe new concepts that use non-invasive diagnostic technologies, especially digital methods as well as peripheral blood genetics. The hope is that one day these will mature, be introduced into clinical practice, and perhaps in many cases even replace the invasive BM biopsy.

Developing a risk model for early diagnosis of metabolic syndrome in Chinese adults aged 40 years and above based on BMI/HDL-C: a cross-sectional study

BackgroundThis study aimed to compare the diagnostic accuracy of four indicators, including waist-to-height ratio (WHTR), vascular adiposity index (VAI), TG/HDL-C, and BMI/HDL-C for metabolic syndrome (MS) in Chinese adults aged 40 years and above. Additionally, the study aimed to develop an efficient diagnostic model displayed by a nomogram based on individual’s BMI and circulating HDL-C level.MethodsA cross-sectional study was conducted on 699 participants aged 40 years and above. Quartiles of BMI/HDL-C, TG/HDL-C, VAI, and WHTR were used as independent variables, and metabolic syndrome was used as the dependent variable. Logistic regression was conducted to explore the impact of each parameter on the risk of MS. The areas under the receiver operating characteristics were compared to determine the accuracy of the indicators in diagnosing MS in the participants. Logistic regression was run to construct the nomograms, and the performance of the nomogram was assessed by a calibration curve.ResultsMS subjects had higher levels of BMI, BFM, PBF, VFA, AMC, WC, SCR, TG, and insulin, but lower LDH and HDL-C levels than the subjects without MS. The BMI/HDL-C ratio was positively correlated with the prevalence of MS and its components. The final diagnostic model included five variables: gender, BFM, WC, TG, and BMI/HDL-C. The model showed good calibration and discrimination power with an AUC of 0.780. The cut-off value for the nomogram was 0.623 for diagnosing MS.ConclusionsBMI/HDL-C ratio was an independent risk factor for MS in Chinese adults. BMI/HDL-C was significantly correlated with MS and its components. BMI/HDL-C was the most powerful diagnostic indicator compared to other indicators, including TG/HDL-C, VAI and WHTR for diagnosing MS. The nomogram drawn based on the diagnostic model provided a practical tool for diagnosing MS in Chinese adults.

10 Optimizing implementation and continuous monitoring of a newborn screening program for severe combined immunodeficiency

Abstract Background Severe Combined Immunodeficiency (SCID) is an inborn error of immunity characterized by severely low T cell levels and function. Early diagnosis is essential to prevent serious infections and improve outcomes. Newborn screening (NBS) for SCID provides a way to detect SCID and other conditions associated with T cell lymphopenia in the neonatal period. Objectives 1) Optimize the implementation of a NBS program for SCID in British Columbia (BC), Canada; and 2) create a systematic method for monitoring the diagnoses and outcomes of infants with a positive screen to facilitate continuous improvement of the NBS program. Design/Methods An interdisciplinary working group comprised of immunologists, biochemical geneticists, and hematopathologists met at regular intervals prior to and after implementing NBS for SCID in BC. We developed an algorithm for the evaluation and initial management of infants with an abnormal NBS for SCID based on literature review and local expert consensus. Using a REDCap database, we tracked the prevalence, evaluation, diagnoses and outcomes of infants with a positive NBS. The database also monitored diagnoses and outcomes of children referred to Immunology outside of the NBS program. Plan-do-study-act cycles included creation of clinical and educational guidelines on SCID, optimization of abnormal NBS cut-off values, and reflex chromosomal microarray (CMA) testing of infants with confirmed T cell lymphopenia. Results Between October 3, 2022 and June 16, 2023, 28,816 initial samples were tested, and 30 infants had a positive screen for SCID. Of the 30 infants, 10 were ultimately diagnosed with conditions associated with T cell lymphopenia. Diagnosis led to avoidance of live viral vaccines and implementation of infection precaution measures. No infants experienced complications related to live viral vaccine administration, compared to 1 case in the preceding 12 months prior to NBS implementation. In February 2023, the threshold for an abnormal NBS was adjusted to achieve the goal positive screen frequency of 0.1%. Performing reflex CMA testing on infants with confirmed T cell lymphopenia led to rapid diagnosis of chromosomal microdeletion syndromes, avoiding unnecessary second tier testing. Since implementing NBS for SCID in BC, there have been no cases of SCID diagnosed outside of the NBS program. Conclusion Establishing an interdisciplinary working group and clinical database facilitated the smooth integration and continuous improvement of NBS for SCID in BC. This model can be applied to other healthcare systems to support teams and ensure the best possible outcomes for affected patients.

Electronic Detection and Diagnosis of Complex Regional Pain Syndrome

Complex Regional Pain Syndrome (CRPS) is a chronic disease that is random and abrupt. As a result, an accurate diagnosis and treatment have yet to be identified due to numerous symptoms and causes. Currently, the method of diagnosis of CRPS is the Budapest Criteria. However, this criterion relies on the patient and doctor’s subjective judgments. Therefore, we propose to develop a diagnostic method for CRPS, integrating reliable and objective analysis of common patterns that occur in patients’ genetic and neuronal structures. Utilizing a zinc oxide biosensor, it was shown the patients’ blood samples with high concentrations of MMP-9, and neuroinflammation occurs as the immune system is impaired. By analyzing blood samples, we quantified the number of CD4+ T cells that penetrate nerves, with direct human CD4+ T cell counting. We compared the structure of neuron cells and identified damage in CRPS patients that were located primarily on dendrites. The significance of using DNA detection and neuron biochips will dramatically improve the diagnosis and treatment of CRPS.

Relevance of 123I-FP-CIT SPECT prescriptions for the diagnosis of parkinsonian syndromes

123I-FP-CIT SPECT enables the detection of presynaptic dopaminergic denervation. It allows to differentiate degenerative parkinsonian syndromes from secondary parkinsonian syndromes or essential tremor, and patients with suspected dementia with Lewy bodies from those with other dementia subtypes. The aim of our study was to evaluate the appropriateness of 123I-FP-CIT SPECT prescriptions, identify prescriber profiles and analyze changes in prescriptions over a decade in the Neurology department of Avicenne University hospital. This retrospective study included all patients who underwent 123I-FP-CIT SPECT between February 2009 and May 2019 (n = 723). Clinical and paraclinical data were compared between three groups based on the relevance of 123I-FP-CIT SPECT prescription: “inappropriate”, “uncertain” and “relevant”. We showed that inappropriate indications accounted for 37.5% of 123I-FP-CIT SPECT requests. Hospital neurologists and neurologists with mixed practice accounted for 74.1% of 123I-FP-CIT SPECT requests, hospital movement disorders specialists being more likely to prescribe appropriately (67.1%) than hospital non-movement disorders specialists (33.3%). Following the replacement of the neuro-oncology team with a team including movement disorders specialists, the percentage of relevant SPECT 123I-FP-CIT prescriptions rose from 37.5% to 81.0%. These observations suggest that seeking the expertise of a movement disorders specialist would be more relevant than the systematic prescription of 123I-FP-CIT SPECT.

Overlap syndrome in liver diseases in children: case report and literature review

In children, autoimmune liver diseases can manifest in a variety of forms, including autoimmune hepatitis (AIH), primary sclerosing cholangitis (PSC), and the co-occurrence of AIH and PSC - the “overlap syndrome.” Early recognition of overlap syndrome is important. Diagnosis of sclerosing cholangitis largely depends on the cholangiographic picture showing single or multiple strictures with dilatation of the biliary tract. The problems of etiology, pathogenesis, diagnosis and treatment of overlap syndrome in children are shown. A clinical example of seronegative autoimmune hepatitis and sclerosing cholangitis as part of a cross syndrome in a child is given.

Systemic effect of the oncological process on the dog’s body

The article presents the results of an analysis of a non-randomized study of the prevalence of paraneoplastic syndromes in primary spontaneous malignant neoplasms in dogs. The study was conducted in 2022–2024 on the basis of the Department of Diseases of Small Domestic, Laboratory and Exotic Animals and the Research Laboratory of Oncology, Ophthalmology and Animal Biochemistry of the Russian Biotechnological University “ROSBIOTECH”. The object of the study were 948 dogs with primary spontaneous malignant neoplasms confirmed by morphological methods.The aim of the work was to study the frequency of paraneoplastic syndromes in dogs with neoplasia.The diagnosis of paraneoplastic syndrome was made by excluding other possible etiological factors for the development of clinical and laboratory abnormalities identified during a comprehensive examination of dogs. As a result of the study, the incidence of paraneoplasia was 54.54% of cases. Hematological (44.41%) and gastrointestinal (37.13%) paraneoplastic syndromes were most often recorded, less often endocrine (3.27%) and ophthalmological (3.38%), extremely rarely renal (1.27%), osteoarticular (0.42%) and dermatological (0.42%). The main hematological manifestations of the systemic effect of the oncological process were: anemia (12.87%), neutrophilic leukocytosis (12.76%) and thrombocytopenia (8.86%). Gastrointestinal paraneoplastic syndrome in most cases was manifested by a decrease in body weight (33.65%) and hyporexia (18.04%), inflammatory and erosive ulcerative lesions of the gastrointestinal tract (7.59%). During the study, a case of a nonspecific systemic reaction to a malignant tumor in the form of fever in the absence of infectious and inflammatory processes (0.11%) was registered.

Bilateral Adrenal Hemorrhage in a Patient Anticoagulated with Apixaban for Antiphospholipid Syndrome (APS): A Rare Case Report

Context: Adrenal hemorrhage is a recognized yet rare complication associated with antiphospholipid syndrome (APS), an autoimmune disorder characterized by the presence of antiphospholipid antibodies that increase the risk of thrombosis. The incidence of adrenal hemorrhage in patients with APS has a diagnostic yield of approximately one-third, indicating that it may often go unrecognized in clinical practice. Traditionally, the management of APS has relied on anti-vitamin K therapy, such as warfarin. However, the advent of direct oral anticoagulants (DOACs) has prompted discussions about their use as an alternative. Recent clinical guidelines, however, strongly advise against the use of DOACs in patients with APS due to concerns over their safety and efficacy in preventing thromboembolic events. Case Presentation: This case study describes a 53-year-old woman with a history of venous thromboembolism who was treated with apixaban, a direct oral anticoagulant. She presented with acute abdominal pain and symptoms suggestive of adrenal insufficiency. Initial evaluations revealed significant changes in her clinical condition, leading to further diagnostic imaging. A CT scan demonstrated bilateral adrenal hemorrhage, which was a surprising finding given her anticoagulation therapy. Subsequent laboratory tests indicated a positive triple antibody profile, confirming a diagnosis of primary antiphospholipid syndrome. This case is particularly noteworthy as there have been limited documented instances of adrenal hemorrhage in patients receiving chronic anticoagulation with apixaban. The presentation of bilateral adrenal hemorrhage in the context of APS adds a crucial dimension to the understanding of the disease and its management. Conclusion: This case highlights the potential for serious complications, such as adrenal hemorrhage, in patients with antiphospholipid syndrome, particularly those treated with direct oral anticoagulants. It underscores the necessity for clinicians to remain vigilant for such rare yet significant events in the management of APS. Additionally, this case raises important questions regarding the appropriateness of DOACs in this patient population, especially given the latest recommendations against their use. Increased awareness and further investigation into the implications of anticoagulation strategies in APS patients are warranted to improve patient outcomes and safety.

Intercoronary communication: a rare coronary anomaly.

Intercoronary communication also known as coronary arcade or coronary cascade is a rare coronary artery anomaly with an incidence of only 0.002% in patients undergoing angiography. This case emphasizes the importance of recognizing this rare anomaly and highlights its clinical significance. We report a case of intercoronary communication in a 56-year-old female who presented with acute chest pain and ST-segment depression in the lateral leads. High-sensitivity troponin-T was elevated and transthoracic echocardiography revealed normal left ventricular function with no regional wall motion abnormality. Hence, the diagnosis of acute coronary syndrome - non-st-elevation myocardial infarction was considered. Coronary angiography revealed a 95% focal stenosis in the major obtuse marginal artery (OM). The right coronary artery (RCA) angiogram revealed a single abnormal channel communicating the right posterolateral branch (PLV) and the distal left circumflex artery (LCX) with retrograde opacification of the proximal LCX, left main coronary artery (LMCA) and left aortic sinus. After she underwent revascularization with the drug-eluting stent to the OM. CT-coronary angiography confirmed the presence of intercoronary communication (ICC) between the right posterolateral branch and the distal LCX artery. No active intervention was done for the ICC. Over a year of follow-up, our patient remained asymptomatic. Angiographically and anatomically, collaterals and intercoronary communications should be differentiated. Obstructive coronary artery disease leads to the development of collaterals, which are typically less than 1mm in diameter, multiple and tortuous. However, ICC tends to be single and straight, usually seen without obstructive disease with unidirectional or bidirectional flow. Histologically, collaterals consist of endothelium supported by poorly organized collagen, muscle and elastic fibers. Meanwhile, ICCs resemble epicardial vessels in that they have a well-defined muscular layer. This case emphasizes the importance of recognizing this rare coronary anomaly and distinguishing it from collaterals to help in accurate diagnosis. Although they can provide an efficient blood supply to the jeopardized myocardium and can aid as a channel during coronary interventions, they can also cause myocardial ischemia by coronary steal.