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1.
Artigo em Inglês | MEDLINE | ID: mdl-38725874

RESUMO

Objective: Iodine staining on white light imaging (WLI) is the gold standard for detecting and demarcating esophageal squamous cell carcinoma (ESCC). We examined the effects of texture and color enhancement imaging (TXI) on improving the endoscopic visibility of ESCC under iodine staining. Methods: Twenty ESCC lesions that underwent endoscopic submucosal dissection were retrospectively included. The color difference between ESCC and the surrounding mucosa (ΔEe) on WLI, TXI, and narrow-band imaging was assessed, and ΔEe under 1% iodine staining on WLI and TXI. Furthermore, the visibility grade determined by endoscopists was evaluated on each imaging. Result: The median ΔEe was greater on TXI than on WLI (14.53 vs. 10.71, respectively; p < 0.005). Moreover, the median ΔEe on TXI under iodine staining was greater than the median ΔEe on TXI and narrow-band imaging (39.20 vs. 14.53 vs. 16.42, respectively; p < 0.005 for both). A positive correlation in ΔEe under iodine staining was found between TXI and WLI (correlation coefficient = 0.61, p < 0.01). Moreover, ΔEe under iodine staining on TXI in each lesion was greater than the corresponding ΔEe on WLI. The visibility grade assessed by endoscopists on TXI was also significantly greater than that on WLI under iodine staining (p < 0.01). Conclusions: The visibility of ESCC after iodine staining was greater on TXI than on WLI.

2.
Indian J Med Microbiol ; 50: 100661, 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38950657

RESUMO

Rhino-orbital-cerebral mucormycosis (ROCM) is linked to uncontrolled diabetes, diabetic ketoacidosis, iron overload, corticosteroid therapy, and neutropenia. This study evaluated a commercial real-time PCR system's effectiveness in detecting Mucorales from nasal swabs in 50 high-risk patients. Nasal swab PCR showed 30% positivity, compared to 8% with KOH microscopy. Despite its improved sensitivity, nasal swab PCR has limitations, highlighting the importance of established sampling methods in mucormycosis diagnosis. Participants were predominantly male (64%), with diabetes (78%) and amphotericin B use (96%). Prior COVID-19 was 42%, with 30% positive for Mucorales by PCR, compared to 8% with KOH microscopy.

3.
Clin Oral Investig ; 28(7): 407, 2024 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-38951256

RESUMO

OBJECTIVES: This study assessed the ability of ChatGPT, an artificial intelligence(AI) language model, to determine the stage, grade, and extent of periodontitis based on the 2018 classification. MATERIALS AND METHODS: This study used baseline digital data of 200 untreated periodontitis patients to compare standardized reference diagnoses (RDs) with ChatGPT findings and determine the best criteria for assessing stage and grade. RDs were provided by four experts who examined each case. Standardized texts containing the relevant information for each situation were constructed to query ChatGPT. RDs were compared to ChatGPT's responses. Variables influencing the responses of ChatGPT were evaluated. RESULTS: ChatGPT successfully identified the periodontitis stage, grade, and extent in 59.5%, 50.5%, and 84.0% of cases, respectively. Cohen's kappa values for stage, grade and extent were respectively 0.447, 0.284, and 0.652. A multiple correspondence analysis showed high variance between ChatGPT's staging and the variables affecting the stage (64.08%) and low variance between ChatGPT's grading and the variables affecting the grade (42.71%). CONCLUSIONS: The present performance of ChatGPT in the classification of periodontitis exhibited a reasonable level. However, it is expected that additional improvements would increase its effectiveness and broaden its range of functionalities (NCT05926999). CLINICAL RELEVANCE: Despite ChatGPT's current limitations in accurately classifying periodontitis, it is important to note that the model has not been specifically trained for this task. However, it is expected that with additional improvements, the effectiveness and capabilities of ChatGPT might be enhanced.


Assuntos
Inteligência Artificial , Periodontite , Humanos , Periodontite/classificação , Masculino , Feminino , Adulto , Pessoa de Meia-Idade
4.
Vet Med Sci ; 10(4): e1532, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38952277

RESUMO

BACKGROUND: Antibodies have been proven effective as diagnostic agents for detecting zoonotic diseases. The variable domain of camel heavy chain antibody (VHH), as an antibody derivative, may be used as an alternative for traditional antibodies in existing immunodiagnostic reagents for detecting rapidly spreading infectious diseases. OBJECTIVES: To expedite the isolation of specific antibodies for diagnostic purposes, we constructed a semi-synthetic camel single domain antibody library based on the phage display technique platform (PDT) and verified the validity of this study. METHODS: The semi-synthetic single domain antibody sequences consist of two parts: one is the FR1-FR3 region amplified by RT-PCR from healthy camel peripheral blood lymphocytes (PBLs), and the other part is the CDR3-FR4 region synthesised as an oligonucleotide containing CDR3 randomised region. The two parts were fused by overlapping PCR, resulting in the rearranged variable domain of heavy-chain antibodies (VHHs). Y. pestis low-calcium response V protein (LcrV) is an optional biomarker to detect the Y. pestis infection. The semi-synthetic library herein was screened using recombinant (LcrV) as a target antigen. RESULTS: After four cycles of panning the library, four VHH binders targeting 1-270 aa residues of LcrV were isolated. The four VHH genes with unique sequences were recloned into an expression vector and expressed as VHH-hFc chimeric antibodies. The purified antibodies were identified and used to develop a lateral flow immunoassay (LFA) test strip using latex microspheres (LM) for the rapid and visual detection of Y. pestis infection. CONCLUSIONS: These data demonstrate the great potential of the semi-synthetic library for use in isolation of antigen-specific nanobodies and the isolated specific VHHs can be used in antigen-capture immunoassays.


Assuntos
Antígenos de Bactérias , Camelus , Anticorpos de Domínio Único , Yersinia pestis , Animais , Yersinia pestis/imunologia , Anticorpos de Domínio Único/imunologia , Antígenos de Bactérias/imunologia , Peste/diagnóstico , Peste/veterinária , Peste/imunologia , Imunoensaio/métodos , Imunoensaio/veterinária , Anticorpos Antibacterianos/imunologia
5.
Front Endocrinol (Lausanne) ; 15: 1383318, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38952397

RESUMO

Introduction: Lipodystrophy syndromes are rare diseases that can present with a broad range of symptoms. Delays in diagnosis are common, which in turn, may predispose to the development of severe metabolic complications and end-organ damage. Many patients with lipodystrophy syndromes are only diagnosed after significant metabolic abnormalities arise. Prompt action by clinical teams may improve disease outcomes in lipodystrophy syndromes. The aim of the Rapid Action Plan is to serve as a set of recommendations from experts that can support clinicians with limited experience in lipodystrophy syndromes. Methods: The Rapid Action Plan was developed using insights gathered through a series of advisory meetings with clinical experts in lipodystrophy syndromes. A skeleton template was used to facilitate interviews. A consensus document was developed, reviewed, and approved by all experts. Results: Lipodystrophy is a clinical diagnosis. The Rapid Action Plan discusses tools that can help diagnose lipodystrophy syndromes. The roles of clinical and family history, physical exam, patient and family member photos, routine blood tests, leptin levels, skinfold measurements, imaging studies, and genetic testing are explored. Additional topics such as communicating the diagnosis to the patients/families and patient referrals are covered. A set of recommendations regarding screening and monitoring for metabolic diseases and end-organ abnormalities is presented. Finally, the treatment of lipodystrophy syndromes is reviewed. Discussion: The Rapid Action Plan may assist clinical teams with the prompt diagnosis and holistic work-up and management of patients with lipodystrophy syndromes, which may improve outcomes for patients with this rare disease.


Assuntos
Lipodistrofia , Humanos , Lipodistrofia/diagnóstico , Lipodistrofia/terapia , Lipodistrofia/genética , Gerenciamento Clínico , Síndrome
6.
Ethiop J Health Sci ; 34(1): 39-46, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38957335

RESUMO

Background: Globally, there were 241 million cases of malaria in 2020, with an estimated 627,000 deaths with Nigeria accounting for 27% of the global malaria cases. In sub-Saharan Africa, testing is low with only 28% of children with a fever receiving medical advice or a rapid diagnostic test in 2021. In Nigeria, there are documented reports of over-diagnosis and over-treatment of malaria in children. Therefore, this study examined the diagnosis of malaria at the Benue State University Teaching Hospital, Makurdi. Methods: A 5-year (2018-2022) retrospective study was carried out at the Emergency Pediatric Unit (EPU). Records of all children presenting to the EPU with an assessment of malaria were retrieved and reviewed. Data was analyzed using SPSS 23. Results: Out of 206 children reviewed, 128 (62.1%) were tested using either malaria RDT or microscopy while 78(37.9%) were not tested. Out of the number tested, 59(46.1%) were negative while 69(53.9%) tested positive, of which 14(20.3%) had uncomplicated malaria while 55(79.7%) had severe malaria. However, while 97.1% (n=67) of the positive cases were treated with IV artesunate, 69.5% (n=41) of those who tested negative and 88.5% (69) of those who were not tested also received IV artesunate. Moreover, while 85.5% (n=59) of those who tested positive received oral artemisinin-based combination therapy (ACT), 72.9% (n=43) of those who tested negative and 67.9% (53) of those who were not tested also received oral ACT. Conclusion: There was over-diagnosis of malaria, and subsequently, over-treatment. Hence continued emphasis on parasitological confirmation of malaria before treatment is recommended.


Assuntos
Antimaláricos , Serviço Hospitalar de Emergência , Hospitais de Ensino , Malária , Humanos , Nigéria/epidemiologia , Estudos Retrospectivos , Pré-Escolar , Hospitais de Ensino/estatística & dados numéricos , Feminino , Masculino , Criança , Antimaláricos/uso terapêutico , Serviço Hospitalar de Emergência/estatística & dados numéricos , Malária/diagnóstico , Malária/tratamento farmacológico , Malária/epidemiologia , Lactente , Artemisininas/uso terapêutico , Adolescente
7.
J Rheum Dis ; 31(3): 182-187, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38957365

RESUMO

Stimulator of interferon gene (STING)-associated vasculopathy with onset in infancy (SAVI) is an extremely rare autoinflammatory disease. We present the case of a female Korean patient with early-onset interstitial lung disease who was initially suspected to have systemic lupus erythematosus (SLE) but was ultimately diagnosed with SAVI. The patient exhibited signs of interstitial lung disease and cutaneous manifestations before the age of 1 year and continued to have recurrent fever accompanied by pulmonary infiltrates. Based on positive findings for antibodies associated with SLE, such as antinuclear antibodies and anti-double-stranded DNA, the pulmonary involvement was considered a manifestation of SLE. Another significant symptom was recurrent skin ulceration, which led to partial spontaneous amputation of most of the toes due to inflammation. Given the early onset of interstitial lung disease, severe skin ulcers, and symptoms resembling SLE, autoinflammatory syndrome, especially SAVI was suspected. Following confirmation by genetic testing at age 29 years, the patient was started on tofacitinib, a Janus kinase inhibitor. Despite the prolonged use of multiple immunosuppressive therapies, the patient's lung condition continued to worsen, ultimately requiring lung transplantation. This observational report highlights the importance of considering SAVI as a potential diagnosis when manifestations of interstitial lung disease are observed during infancy. Early proactive treatment is crucial for lung involvement, as this can have long-term effects on patient's prognosis.

8.
Front Endocrinol (Lausanne) ; 15: 1408065, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38957439

RESUMO

Purpose: The impact of delayed diagnosis on tumor-related prognosis appears to be minimal in individuals with intracranial germ cell tumors (iGCTs). However, its effect on neuroendocrine functions remains unclear. We aimed to assess the effects of delayed diagnosis on neuroendocrine function in individuals with suprasellar GCTs. Methods: We conducted a retrospective cohort study of 459 individuals with suprasellar GCTs and categorized them into two groups based on disease duration: delayed diagnosis (> 6 months) and non-delayed diagnosis (≤ 6 months). We compared endocrinological symptoms, neuroendocrine dysfunction and its grading (categorized into 0-3 grades based on severity), and recovery from neuroendocrine dysfunction in both groups. Results: Patients with delayed diagnosis exhibited higher incidences of amenorrhea, slow growth, fatigue, and polyuria/polydipsia. Neuroendocrine dysfunction, including central adrenal insufficiency (CAI), central hypothyroidism (CHT), arginine vasopressin deficiency (AVP-D), growth hormone deficiency, hypogonadism, and hyperprolactinemia, was more pronounced in the delayed diagnosis group at diagnosis, the end of treatment, and the last follow-up. Furthermore, individuals with delayed diagnosis showed higher grades of neuroendocrine dysfunction at diagnosis (OR=3.005, 95% CI 1.929-4.845, p<0.001), end of oncologic treatment (OR=4.802, 95% CI 2.878-8.004, p<0.001), and last follow-up(OR=2.335, 95% CI 1.307-4.170, p=0.005) after adjusting for confounders. Finally, less recovery, particularly in CAI, CHT, and AVP-D, was seen among the group with delayed diagnosis after treatment. Conclusion: Among individuals with suprasellar GCTs, delayed diagnosis is associated with increased, more severe, and less recovered neuroendocrine dysfunction, emphasizing the importance of early diagnosis and treatment to reduce neuroendocrine dysfunction.


Assuntos
Diagnóstico Tardio , Neoplasias Embrionárias de Células Germinativas , Humanos , Masculino , Feminino , Estudos Retrospectivos , Neoplasias Embrionárias de Células Germinativas/diagnóstico , Adulto , Adulto Jovem , Adolescente , Prognóstico , Sistemas Neurossecretores/fisiopatologia , Pessoa de Meia-Idade , Seguimentos
9.
Cureus ; 16(5): e60555, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38957595

RESUMO

Background The clinical diagnosis of acute appendicitis (AA) can be challenging. This study aimed to evaluate the significance of this diagnosis amidst technological progress. It compared clinical diagnosis to radiology-aided diagnostic outcomes and negative appendicectomy rates (NAR). Methodology This study conducted a single-center retrospective and prospective cohort observational study on all adult patients presenting with suspected AA in 2018 at a major tertiary teaching hospital in Perth, Western Australia. Key demographics, clinicopathological, radiology, and operative reports were reviewed. Data were analyzed using SPSS v.27. Results Of 418 patients with suspected AA, 234 (56%) were in the retrospective group. The median age was 35 (IQR=26), and 224 (54%) were female. The overall NAR was 18.6% (95% CI (14.8-22.4)) and 20.8% for clinical diagnosis. Notably, the NAR for ultrasound (USS)-reported AA (false positive) was 17.6% (95% CI (10.6-27.4)). Three-quarters of the patients, 298 (71.3%), had radiological imaging. The most common modality was CT 176 (59.1%), and 33 (7.9%) had both CT and USS imaging performed. Compared with final histopathology, no significant difference was found in the accuracy of clinically diagnosed and USS-diagnosed cases, with rates of 83.5% and 82.5%, respectively (p=0.230). CT had the best positive predictive value at 82.1%. Single-modality imaging did not cause a significant surgical delay (p=0.914), but multi-modal imaging showed a non-significant trend toward delay (p=0.065). When surgeons assessed an appendix as normal, 54 (12.9%), the histopathological assessment revealed pathology in 28 (51.9%). The inter-observer agreement was only fair to moderate, Kappa=0.46 (95% CI (0.33-0.58); p<0.001). The intraoperative identification of a normal appendix inversely correlated to the grade of the primary surgeon, which was likely related to the number of surgical personnel in the theater (p<0.001). Conclusion This study showed that clinical diagnosis matches the diagnostic accuracy of imaging technologies. Utilizing diagnostic imaging methods promptly and appropriately did not lead to considerable delays in surgery. Surgeons' capability to diagnose appendicitis during surgery is moderately accurate. Most patients underwent imaging, with CT scans being the most common. Moving forward, practitioners must minimize excessive reliance on imaging techniques as this can be resource-intensive, especially in developing countries. Future clinical practice should balance embracing technological advancements and preserving essential clinical diagnostic expertise, for medicine is both a science and an art.

10.
Front Vet Sci ; 11: 1389728, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38957801

RESUMO

Brucella BP26 proves to be a highly immunogenic antigen with excellent specificity in brucellosis detection. In China, the authorized use of the Bp26-deleted vaccine M5ΔBP26 for preventing small ruminant brucellosis highlights the importance of developing accurate detection methods targeting BP26, particularly for the diagnosis of differentiation between infected and vaccinated animals (DIVA). Using the traditional mouse hybridoma technique, we successfully obtained 12 monoclonal antibodies (mAbs) targeting BP26. The efficacy of these mAbs in detecting various animal brucellosis cases using the competitive ELISA method was evaluated. Among them, only the E10 mAb exhibited significant efficiency, being inhibited by 100, 97.62, and 100% of brucellosis-positive sera from cattle, small ruminants, and canines, respectively. The E10-based competitive enzyme-linked immunosorbent assay (cELISA) outperformed the BP26-based indirect enzyme-linked immunosorbent assay (iELISA) in accuracy, particularly for cattle and small ruminant brucellosis, with cELISA sensitivity reaching 97.62% compared to 64.29% for iELISA for small ruminants. Although cELISA showed slightly lower specificity than iELISA, it still maintained high accuracy in canine brucellosis detection. The epitope of mAb E10 was identified in the amino acid sequence QPIYVYPDDKNNLKEPTITGY, suggesting its potential as a diagnostic antigen for brucellosis. In conclusion, the E10-based cELISA presents an effective means of detecting animal brucellosis, particularly significant for DIVA diagnosis in China, where the BP26-mutant vaccine is widely used.

11.
Front Genet ; 15: 1401315, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38957807

RESUMO

Purpose: To analyze the prenatal diagnosis, parental verification, and pregnancy outcomes of three fetuses with 17ql2 microdeletion syndrome. Methods: We retrospectively reviewed 46 singleton pregnancies with anomalies in the urinary system who underwent amniocentesis from Feb 2022 to October 2023 in the Prenatal Diagnosis Center of Lianyungang Maternal and Child Health Hospital. These fetuses were subjected to chromosomal microarray analysis (CMA) and/or trio whole-exome sequencing (Trio-WES). We specifically evaluated these cases' prenatal renal ultrasound findings and clinical characteristics of the affected parents. Results: Three fetuses were diagnosed as 17q12 microdeletions, and the detection rate was 6.5% in fetuses with anomalies in the urinary system (3/46). The heterogeneous deletions range from 1.494 to 1.66 Mb encompassing the complete hepatocyte nuclear factor 1 homeobox B (HNF1B) gene. Fetuses with 17q12 deletion exhibited varied renal phenotypes. Moreover, the clinical phenotypes of the affected parents differed greatly in the two cases (case 2 and case 3) in which the deletion was inherited. For case 3, the mother manifested classic symptoms of 17q12 deletion syndrome as well as unreported characteristics, such as very high myopia. Conclusion: Our findings demonstrate the necessity and significance of offering prenatal genetic testing when various renal anomalies are detected. In addition, our study broadens the phenotypic spectrum of 17q12 deletions. Most importantly, our findings may allow timely supportive genetic counseling and guidance for pregnancy in affected families, e.g., with the help of preimplantation genetic testing (PGT).

12.
Clin Infect Dis ; 2024 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-38959300

RESUMO

BACKGROUND: Non-AIDS defining malignancies present a growing challenge for persons with HIV (PWH), yet tailored interventions for timely cancer diagnosis are lacking. The Spanish IMPAC-Neo protocol was designed to compare two comprehensive cancer screening strategies integrated into routine HIV care. This study reports baseline data on the prevalence and types of precancerous lesions and early-stage cancer among participants at enrolment. Acceptability of the procedure was additionally assessed. METHODS: Cross-sectional analysis of a comprehensive screening protocol to detect precancer and cancer. The readiness of healthcare providers to implement the protocol was evaluated using a validated 4-item survey. RESULTS: Among the 1430 enrolled PWH, 1172 underwent 3181 screening tests, with positive findings in 29.4% of cases, leading to further investigation in 20.7%. Adherence to the protocol was 84%, with HIV providers expressing high acceptability (97.1%), appropriateness (91.4%), and feasibility (77.1%). A total of 145 lesions were identified in 109 participants, including 60 precancerous lesions in 35 patients (3.0%), 9 early-stage cancers in 9 patients (0.8%), and 76 low-risk lesions in 65 subjects (5.5%). Adverse events related to screening occurred in 0.8% of participants, all mild. The overall prevalence of cancer precursors or early-stage cancer was 3.8% (95% CI, 2.74%-5.01%), with highest rates observed in individuals screened for anal and colorectal cancers. CONCLUSIONS: The baseline comprehensive cancer screening protocol of the IMPAC-Neo study successfully identified a significant proportion of PWH with precancerous lesions and early-stage cancer. High adherence rates and positive feedback from providers suggest effective implementation potential in real-world healthcare settings.

13.
Thromb Res ; 241: 109074, 2024 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-38959580

RESUMO

INTRODUCTION: Hospital discharge diagnoses from administrative registries are frequently used in studies of cancer-associated venous thromboembolism, but the validity of International Classification of Diseases (ICD) codes for identifying such events is unknown. MATERIALS AND METHODS: Using patient samples from the Danish National Patient Register, we calculated positive predictive values (PPV), i.e., the proportion of registered ICD codes, which could be confirmed after manual search of the electronic health record. Sensitivity was estimated in a sample of patients with imaging-verified venous thromboembolism but without prior knowledge about their ICD coding status. Sensitivity was calculated as the proportion of these patients, who were discharged with an ICD code for venous thromboembolism. RESULTS: The overall PPV of an ICD-10 diagnosis of cancer-associated venous thromboembolism was 75.9 % (95 % confidence interval 71.3-80.0). In subgroups, the PPV was particularly low for recurrent venous thromboembolism (44.2 %), diagnoses in a secondary position (55.7 %), outpatient diagnoses (65.3 %), and diagnoses given at surgical (66.7 %), emergency wards (48.4 %), or via hospices/palliative teams (0 %). The overall sensitivity was 68 %, meaning 32 % of patients with cancer diagnosed in hospital with venous thromboembolism were discharged without any registered ICD code for venous thromboembolism. CONCLUSIONS: The positive predictive value of an ICD diagnosis of cancer-associated venous thromboembolism in the Danish Patient Register was overall adequate for research purposes, but with notable variation across subgroups. Sensitivity was limited, as 1/3 of patients with venous thromboembolism were discharged without any relevant ICD code. Cautious interpretation of incidence of cancer-associated venous thromboembolism based on administrative register-based data is warranted.

14.
Ann Vasc Surg ; 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38960097

RESUMO

OBJECTIVE: Non-A non-B (NANB) aortic dissections are uncommon and frequently unrecognized diseases. However, their proper identification is crucial given the unpredictable behaviour of the dissected aorta with potential mortality and increased morbidity. We investigate the accuracy of radiological computed angio-tomography (CTA) reports in the diagnosis of acute NANB and the risk related to delayed recognition or misdiagnosis. METHODS: The pre-treatment contrast CTA of all consecutive patients admitted with acute aortic dissection (AAD) in a University Hospital in London (UK) between January 2017 and May 2023 were reviewed to retrospectively verify the accuracy of CTA reports in the diagnosis of NANB AAD (B1-2D The risk related to the delayed diagnosis (morbidity, mortality, and hospital re-admissions) were evaluated as secondary outcomes. The study was conducted according to the STROBE guidelines. RESULTS: Overall, 588 aortic CTAs were reviewed for a total of n=393 (66.8%) type A AADs, n=171 (29%) type B AADs and n=25(4.3%) NANB AADs (n=16, 64% men, mean age 60.56, DS+/- 14.6 years). While no case of misdiagnosis was identified in Type A or B AAD groups, in NANBs only about a third of cases (n=9, 36%) were immediately indicated as "NANB" (n=2, 8%) or "B with retrograde extension into the arch" (n=7, 28%), n=8 cases (32%) were described generically as "arch dissections" (n=6, 24%) or "type A and B" AAD (n=2, 8%). The remaining 32% of patients received a diagnosis that did not include mention of the arch, as n=6(24%) cases were reported to be "type A" and n=2(8%) to be "type B" AADs. Despite the heterogeneity of terms used to describe NANB AAD, no case of cardiac tamponade, new onset malperfusion nor neurological complications were reported, and no sudden death nor home-discharge and readmission while waiting for the proper diagnosis. CONCLUSION: The heterogeneity of terms used to describe NANB aortic dissection highlights the need for increased awareness, adoption of in guideline based classification systems, and further education to better understand and correctly address this challenging entity, minimizing misdiagnosis in ambiguous or difficult cases.

15.
J Cardiovasc Magn Reson ; : 101053, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38960285

RESUMO

BACKGROUND: In double aortic arch (DAA) one of the arches can demonstrate atretic portions postnatally, leading to diagnostic uncertainty due to overlap with isolated right aortic arch (RAA) variants. The main objective of this study is to demonstrate the morphological evolution of different DAA phenotypes from prenatal to postnatal life using 3D fetal cardiac magnetic resonance imaging (CMR) and postnatal CT/CMR imaging. METHODS: 3D fetal CMR was undertaken in fetuses with suspected DAA over a six-year period (Jan 2016 - Jan 2022). All cases with surgical confirmation of DAA were retrospectively studied and morphology on fetal CMR was compared to postnatal CT/CMR and surgical findings. RESULTS: 32 fetuses with surgically confirmed DAA underwent fetal CMR. All demonstrated a complete DAA with left-sided arterial duct. The RAA was dominant in 30/32 (94%). Postnatal CT/CMR was undertaken at median age of 3.3months (IQR 2.0-3.9) demonstrating DAA with patency of both arches in 9/32 (28%), with 6 showing signs of coarctation of the left aortic arch (LAA). The LAA isthmus was not present on CT/CMR in 22/32(69%), the transverse arch between left carotid and left subclavian artery was not present in 1 case. CONCLUSIONS: Fetal CMR provides novel insights into perinatal evolution of DAA. The smaller LAA can develop coarctation or atresia related to postnatal constriction of the arterial duct, making diagnosis of DAA challenging with contrast-enhanced CT/CMR. This highlights the potentially important role for prenatal 3D vascular imaging and might improve intepretation of postnatal imaging.

16.
Artigo em Inglês | MEDLINE | ID: mdl-38960312

RESUMO

BACKGROUND: The diagnosis and management of malaria in non-endemic countries presents a continuing challenge. Plasmodium falciparum, which is capable to rapidly induce severe and life-threatening multiorgan disease, is the species most frequently diagnosed in Europe and North America. OBJECTIVES: To summarise the more relevant diagnostic findings and clinical features of malaria observed in non-endemic settings and to provide an up-date of the key management decision points using three illustrative clinical scenarios of uncomplicated and severe malaria. SOURCES: The discussion is based on relevant literature search spanning the last twenty years. Recommendations are based on available clinical guidelines including those of the World Health Organization (WHO), on observational studies conducted in non-endemic settings and, when available, with extrapolation from randomised studies from malaria endemic settings. CONTENT: The following topics are covered: diagnosis, including the use of molecular biology; clinical characteristics; management with specific focus on complicated (severe) and uncomplicated malaria and on areas of resistance to available antimalarial drugs. IMPLICATIONS: Malaria imported to non-endemic settings, especially Plasmodium falciparum malaria, is sometimes initially overlooked and the delayed diagnosis is responsible every year of preventable deaths. This review aims to raise awareness of malaria outside endemic countries and to provide clinicians with a practical guide for efficient diagnosis and targeted therapy to the different species involved.

17.
Klin Onkol ; 38(3): 184-188, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38960674

RESUMO

BACKGROUND: Early diagnosis of cancer is essential for its effective treatment. Currently, established screening tests are cancer-specific and require screening for each type of cancer separately. The primary objective of cancer research is to develop methods that can detect multiple types of tumors from a single body fluid sample. Multicancer early detection tests aim to detect fragments of circulating tumor DNA, cell-free DNA, circulating microRNAs, or proteins released by cancer cells in the patient's body fluids. However, these tests are not suitable for routine cancer prevention due to their high cost. Therefore, in recent years, cancer screening tests have been developed to detect volatile organic compounds in urine using living organisms, such as nematodes, Caenorhabditis elegans. Measuring only 1 mm in length, C. elegans has the potential to offer a new, efficient, cost-effective, quick, and painless method to detect the presence of tumor. PURPOSE: The purpose of this review is to present an overview of the literature on the development and validation of C. elegans-based cancer detection methods. The potential benefits of these assays are significant, as they could become a valuable tool for the early identification and diagnosis of cancer, even though this research is still in its initial stages of development.


Assuntos
Caenorhabditis elegans , Detecção Precoce de Câncer , Neoplasias , Animais , Detecção Precoce de Câncer/métodos , Humanos , Neoplasias/diagnóstico , Biomarcadores Tumorais
19.
J Magn Reson Imaging ; 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38946400

RESUMO

Schizophrenia is a severe mental illness that significantly impacts the lives of affected individuals and with increasing mortality rates. Early detection and intervention are crucial for improving outcomes but the lack of validated biomarkers poses great challenges in such efforts. The use of magnetic resonance imaging (MRI) in schizophrenia enables the investigation of the disorder's etiological and neuropathological substrates in vivo. After decades of research, promising findings of MRI have been shown to aid in screening high-risk individuals and predicting illness onset, and predicting symptoms and treatment outcomes of schizophrenia. The integration of machine learning and deep learning techniques makes it possible to develop intelligent diagnostic and prognostic tools with extracted or selected imaging features. In this review, we aimed to provide an overview of current progress and prospects in establishing clinical utility of MRI in schizophrenia. We first provided an overview of MRI findings of brain abnormalities that might underpin the symptoms or treatment response process in schizophrenia patients. Then, we summarized the ongoing efforts in the computer-aided utility of MRI in schizophrenia and discussed the gap between MRI research findings and real-world applications. Finally, promising pathways to promote clinical translation were provided. EVIDENCE LEVEL: 2 TECHNICAL EFFICACY: Stage 3.

20.
J Pak Med Assoc ; 74(6): 1041-1045, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38948968

RESUMO

OBJECTIVE: To assess the diagnostic features of acromegaly, and analyse its management outcomes over a 15-year period in a tertiary care setting. METHODS: The descriptive, cohort, retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised data of adult patients of either gender diagnosed with acromegaly based on biochemical and radiological evidence between January 2005 and December 2019. Data was retrieved from the medical records. Data was analysed using SPSS 19. RESULTS: Of the 84 subjects, 54(64.3%) were males and 30(35.7%) were female. The overall mean age was 38.69±13.52 years. The patients presented 5.43±4.3 years after the onset of symptoms, with somatic growth features, such as enlarged hands and feet which was the most common complaint 81(96.4%). Of all the patients, 73(86.9%) underwent trans-sphenoidal surgery for the removal of the pituitary adenoma, while 11(13.1%) opted out of the surgical option. Further, 9(12.3%) patients showed biochemical and radiological remission 6 months post-surgery. Out of the remaining 64(87.7%) patients, 38(59.4%) received radiosurgery or radiotherapy, 15(23.4%) underwent repeat trans-sphenoidal surgery, and 11(17.2%) chose medical treatment. CONCLUSIONS: Majority of patients failed to achieve remission after trans-sphenoidal surgery, which is the first line of treatment. Radiotherapy/repeat surgery was generally the options taken by those with persistent disease.


Assuntos
Acromegalia , Centros de Atenção Terciária , Humanos , Feminino , Masculino , Acromegalia/terapia , Acromegalia/diagnóstico , Acromegalia/epidemiologia , Paquistão/epidemiologia , Adulto , Estudos Retrospectivos , Pessoa de Meia-Idade , Adenoma/terapia , Adenoma/diagnóstico , Adenoma/cirurgia , Adenoma/epidemiologia , Neoplasias Hipofisárias/terapia , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/cirurgia , Resultado do Tratamento , Adulto Jovem , Radiocirurgia/métodos
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