Reassessing HIV Detection Strategies: An Analysis of Opportunistic Screening vs. Indicator-Condition-Driven Diagnosis in Valencia, Spain.

Our study assessed the characteristics of people living with HIV (PLWH) detected via opportunistic screening in Valencia (Spain) to determine diagnoses potentially missed under a more restrictive, indicator-condition diagnostic strategy. We conducted a retrospective analysis of electronic health records of 97 PLWH diagnosed between April 2019 and August 2022. The main outcomes reported were patient CD4+ T cell count, known HIV risk factors at diagnosis, and missed opportunities for diagnosis, defined as the failure of a previously untested patient to undergo HIV testing despite attending previous visits to healthcare facilities prior to diagnosis. Successful linkage to care was achieved for 95.9% of diagnosed patients. Half of the PLWH were diagnosed late, while 47.8% did not meet the criteria for indicator-condition-driven HIV diagnosis at the time of their diagnosis. Additionally, 52.2% did not receive HIV testing despite an average of 5.1 ± 6.0 healthcare visits in the 12 months prior to diagnosis. Spaniards had more missed opportunities for diagnosis than foreigners (64% vs. 40%, p = 0.02). Depending solely on an indicator-condition-driven HIV diagnosis approach could result in 47.8% of cases being missed. Including "migrants" as a testing criterion could lower missed diagnoses to 25.3% but might create inequities in prevention access. In conclusion, our findings provide valuable insights to enhance HIV testing, early diagnosis, and linkage to care. While it is crucial to uphold the indicator-condition-driven HIV diagnosis as baseline practice, improving screening strategies will decrease late diagnoses and missed opportunities, thereby effectively contributing to end the epidemic.

The grading diagnostic strategy of molecular autopsy combined with pathological autopsy in the forensic diagnosis of cardiomyopathy.

The diagnosis of cardiomyopathy often relies on the subjective judgment of pathologists due to the variety of morphologic changes in the condition and its low specificity. This uncertainty can contribute to unexplained sudden cardiac deaths (USCD). To enhance the accuracy of hereditary cardiomyopathy diagnosis in forensic medicine, we proposed a combination of molecular autopsy and pathologic autopsy. By analyzing 16 deceased patients suspected of cardiomyopathy, using whole exome sequencing (WES) in molecular autopsy, and applying a combined diagnostic strategy, the study found pathogenic or likely pathogenic variants in 6 cases. Out of the 16 cases, cardiomyopathy was confirmed in 3, while 3 exhibited conditions consistent with it. Data for 4 cases was inconclusive, and cardiomyopathy was ruled out in 6. Notably, a novel variant of the TTN gene was identified. This research suggests that a grading diagnostic strategy, combining molecular and pathological evidence, can improve the accuracy of forensic cardiomyopathy diagnosis. This approach provides a practical model and strategy for precise forensic cause-of-death determination, addressing the limitations of relying solely on morphologic assessments in cardiomyopathy cases, and integrating genetic information for a more comprehensive diagnosis.

Allergen diagnosis strategy: An experimental application of different methods in Guangzhou, Southern China.

Different methods have different diagnostic value under diverse clinical conditions. This study was conducted to analyze the clinical practical value of different assays in different situations and to establish the concept of an allergen diagnosis strategy.This study used Phadia CAP, Advan Sure (AdvS), Euroline Camera (ELC), and Allergy Lateral Flow Assay (ALFA) kits to detect allergen specific immunoglobulin E (sIgE) in the sera from 30 allergic asthma patients, with Phadia CAP as the gold standard.This study found high sensitivity for Dermatophagoides pteronyssinus in AdvS (92.6%), ELC (88.9%), and ALFA (85.2%), but poor sensitivity for F. domesticus in all three assays. Furthermore, the AdvS, ELC, and ALFA assays could detect 20, 21, and 8 allergens in one panel, respectively. The combination of the results showed that 93.3% and 46.7% of patients tested positive for ≥5 and ≥10 types of allergens, respectively. All patients who were tested positive for the Marine fish mixture were positive for both Shrimp and Crab. Similarly, patients who were tested positive for Chicken also tested positive for Pork. Optimal scale analysis showed a strong connection between Peanut, Soybean, Wheat, Japanese Hop, Western ragweed, and Oak allergens (Cronbach's α = 91.1%).The ELC assay was more suitable for use in pollen-rich areas, whereas the ALFA assay was easy to establish in areas with poor medical conditions. An allergen diagnosis strategy needs to be considered for use in clinical practice.

Candidate antigenic epitopes for vaccination and diagnosis strategies of Toxoplasma gondii infection: A review.

Toxoplasmosis caused by an obligatory intracellular protozoan parasite of Toxoplasma gondii threats a wide spectrum of human and animal hosts. It has been shown that the intensity of the disease in humans depends on the host's immune responses. Immunological investigations on whole protein molecules of T. gondii have shown that these antigens are not fully responsible for the immune response, which leads to a decrease in specificity and affinity of the antigen (epitope)-antibody (paratope) binding. Currently, epitopes have shown promising entities to stimulate B, T, cytotoxic T lymphocyte, and NK cells resulting in enhancement of protective immunity against toxoplasmosis patients. Thus, the accurate designing, prediction, and conducting of antigenic epitopes of T. gondii (with linear and/or spatial structures (can augment our understanding about development of new serological diagnostic kits and vaccines. The current review provides an update on the latest advances of current epitopes described against toxoplasmosis including B cell/T cell epitopes, antigen types, parasite strains, epitope sequences, assay settings (in vitro and/or in vivo), and target strategy. Present results disclosed that the designing of effective multiepitopes of T. gondii by in silico modeling and immunoinformatics tools can strengthen our knowledge about triggering of epitope-based vaccine/diagnosis strategies in future perspectives.

Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing.

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive, inherited neuromuscular disorders, caused by pathogenic variants in the dystrophin gene that encodes the dystrophin protein. A number of mutations have been identified in the past years, producing dystrophin diversity and resulting in mild to severe phenotypes in patients. Mutations in the dystrophin gene can be characterized by laboratory testing to confirm a clinical diagnosis of DMD/BMD. Traditional genetic diagnostic strategy for DMD/BMD involves the initial detection of large mutations, followed by the detection of smaller mutations, where two or more analytical methods are employed. With the development of next generation sequencing (NGS) technology, comprehensive mutational screening for all variant types can be performed on a single platform in patients and carriers, although further optimization and validation are required. Furthermore, the discovery of cell-free fetal DNA (cffDNA) in maternal plasma provides basis for noninvasive prenatal diagnosis of DMD/BMD. Here, we discuss the correlation between genotype and phenotype, the current methods of molecular genetic testing and genetic diagnostic strategy for probands and female carriers of DMD/BMD, the diagnostic ability of a comprehensive targeted NGS strategy and the possibility of it replacing conventional methods.

The diagnosis and treatment strategy of occipital skull mass in hemophilic patients: a rare case report and literature review.

BACKGROUND: Cranial hemophilic pseudotumor (cHPT) is a very rare disease, which is easy to misdiagnose. It is also difficult to manage such patients. We reported the first case of occipital cHPT. CASE PRESENTATION: Here, we presented a rare case of an occipital bone mass in a 3-year-old boy who was diagnosed with hemophilia A. The mass was misdiagnosed as an aneurysmal bone cyst by pathological examination. After resection, the patient underwent one-stage cranioplasty. However, the patient was admitted again for hematoma caused by an invasive procedure. A second surgery and one-stage cranioplasty were performed at the same time. A follow-up 3 months after discharging showed the patient was uneventful, and the titanium mesh was well fixed. CONCLUSION: The diagnosis of cHPT requires the combining of history, radiological examination, and pathological examination. Resection is the best choice for symptomatic cHPT. Replacement treatment and less invasive treatment can make perioperative management safer. One-stage cranioplasty for resection of an occipital cHPT can improve the quality of life.

[Retroperitoneal fibrosis in adults: Diagnostic approach based on a retrospective multicenter study on 32 cases]. / Fibrose rétropéritonéale de l'adulte : approche diagnostique à partir d'une série rétrospective multicentrique de 32 cas.

INTRODUCTION: Retroperitoneal fibrosis is a rare disease, typically with an insidious and various clinical course. The peak incidence is seen in patients 40 to 60 years of age and mostly in man. The characteristic finding in this disease is a periaortic fibrous mass that often surrounds the ureters. The diagnostic approach remains uncodified. We aimed to determine the different clinical, radiological and biological aspects of retroperitoneal fibrosis. PATIENTS AND METHODS: Retrospective multicenter study of 32 retroperitoneal fibrosis cases hospitalized between 1999 and 2014 in the Internal Medicine Department and Urology Department in the university hospital center Sahloul Sousse. RESULTS: There were 24 men and 8 women with a mean age of 58 years. The lumbar pain is the most common clinical signs (53.1%). An inflammatory syndrome and renal failure were the most common biological signs. The diagnosis was suspected on data from the abdominal ultrasound and confirmed by pelvic CT scan that showed a periaortic fibrous mass that often surrounds the ureters. Histological analysis of a surgical biopsy specimen was performed in only eight cases. CONCLUSION: The most common mode of presentation of retroperitoneal fibrosis remains lumbar pain with renal failure and a high sedimentation rate. Although abdominal ultrasound may contribute to the general evaluation of patients with retroperitoneal fibrosis, CT-scanner is the preferred imaging method. The imaging capability of magnetic resonance and the TEP-scan may facilitate assessment of disease extent. LEVEL OF EVIDENCE: 4.

Comparison of the diagnosis and medication strategy for patient of benign prostatic hyperplasia between urologist and geriatrician in China / 中华泌尿外科杂志

Objective To promote the standardization of medical practice in China by comparing the discrepancies of diagnosis and medication strategies for benign prostatic hyperplasia (BPH) between urologists and geriatricians.Methods Departments of urology and geriatrics in general hospitals in China were selected through stratified sampling and 145 315 patients who went for the outpatient service in certain days during December 2011 to December 2012 were recruited by cluster.Questionnaires were completed by corresponding doctors and data of patient clinical characteristics as well as diagnostic and therapeutic pattern were collected.Results A total of 142 511 valid questionnaires were collected with 119 426 from urology and 23 085 from geriatrics.The average age of BPH patients was (68.34±8.61) years and the average IPSS was 17.93±4.73.The rates of diagnostic method were IPSS (99.2％),ultrasonic inspection (86.0％),digital rectal examination (DRE) (66.0％) and urine flow rate test (55.2％).The rate of ultrasonic application was lower while the rates of other methods were higher among urologists (P＜0.01) ; the rate of DRE among urologists was 2.2 times to that among geriatricians.For patients with moderate or severe symptoms,most urologists (72.1％ in moderate patients and 79.9％ in severe patients) applied drug-combination strategy and the rate was 2 times to that among geriatricians (P＜0.01).In contrast,most geriatricians (59.7％ in moderate patients and 56.1％ in severe patients) applied single drug to BPH patients.Urologists utilized α-receptor blockers,plant preparations and traditional Chinese medicine more frequently than geriatricians (P＜0.01).Conclusions Urologists performed more integrated diagnosis strategy compared with geriatricians.The urologists tended to use 5α-reductase inhibitor combined with α-receptor blocker to treat BPH patients with moderate or severe symptoms,while geriatricians preferred 5α-reductase inhibitor alone.