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Histopathology Nov 2023We report pathology findings from the first 10 years of the faecal-occult blood-based Northern Ireland Bowel Cancer Screening Programme, presenting summary data and...
AIMS
We report pathology findings from the first 10 years of the faecal-occult blood-based Northern Ireland Bowel Cancer Screening Programme, presenting summary data and trends in pathology diagnoses and clinicopathological features of screen-detected cancers.
METHODS AND RESULTS
Data were analysed from a comprehensive polyp-level pathology database representing all endoscopy specimens from programme inception in 2010 until 2021. A total of 9800 individuals underwent 13 472 endoscopy procedures, yielding 25 967 pathology specimens and 32 119 diagnoses. Index specimen diagnoses (4.1%) and index colonoscopies (10.4%) yielded a diagnosis of colorectal cancer, representing 1045 cancers from 1020 individuals (25 with synchronous cancers). A further 13 index cancers were identified via computed tomography colonography; 65.3% of cancer diagnoses were in males; 41.7% were stage I, 23.1% stage II, 25.8% stage III and 1.8% stage IV (7.6% unstaged). Of 233 pT1 cancers diagnosed within local excision specimens, 79 (33.9%) had completion surgery. Ten-year trends showed a steady decline in the proportion of index colonoscopies that yielded a diagnosis of cancer (14.7% in year 1; 4.8% in year 11) or advanced colorectal polyp. There was a strong upward trend in diagnoses of sessile serrated lesions, which overtook hyperplastic polyps in proportions of total index diagnoses by the end of the study time-frame (8.7% compared to 8.5%).
CONCLUSIONS
Over the first 10 years of a population colorectal cancer screening programme, 'real world' pathology data demonstrate success in the form of reduced diagnoses of cancer and advanced colorectal polyp with passage of successive screening rounds. Interesting trends with respect to serrated polyp diagnoses are also evident, probably related to pathologist and endoscopist behaviour.
Topics: Male; Humans; Colonic Polyps; Adenoma; Early Detection of Cancer; Colorectal Neoplasms; Colonoscopy
PubMed: 37565291
DOI: 10.1111/his.15017 -
Journal of Clinical Immunology Nov 2023Delayed diagnosis of common variable immunodeficiency (CVID) remains a serious problem. We investigated whether some diseases diagnosed during out-patient visits or...
Missed Opportunities to Diagnose Common Variable Immunodeficiency: a Population-Based Case-Control Study Identifying Indicator Diseases for Common Variable Immunodeficiency.
PURPOSE
Delayed diagnosis of common variable immunodeficiency (CVID) remains a serious problem. We investigated whether some diseases diagnosed during out-patient visits or admission to hospitals could act as indicator conditions for CVID diagnosis.
METHODS
In this nested case-control study, we identified 128 cases diagnosed with CVID in Denmark (1999-2013) and 640 age-, gender-, and region-matched controls. We obtained data on diseases diagnosed at hospitals in the five years before CVID diagnosis from The National Hospital Registry. We grouped hospital diagnoses in 33 major disease categories and 210 subcategories. We used conditional logistic regression to calculate the odds ratios (OR) and 95% confidence intervals (CI) to estimate associations between disease exposure and subsequent CVID.
RESULTS
During the five years preceding a CVID diagnosis, cases had four times as many hospital contacts as the controls (p < 0.001). A diagnosis in 18 major disease categories showed a significant OR for subsequent diagnosis of CVID. The most substantial association with a subsequent CVID diagnosis was a diagnosis of lower respiratory tract infections (OR: 29.9; 95% CI: 14.2-63.2) and lung diseases (35.1; 15.0-82.5). We observed a similar association when we removed the last year before diagnosis from analysis and overall, in the years < 1, ≥ 1-3, and ≥ 3-5 before diagnosis, although the absolute number of exposures was small. Twenty-eight specific diseases displayed an at least 3-fold risk of subsequent CVID diagnosis.
CONCLUSION
Targeted screening for antibody deficiency in patients diagnosed with specific diseases associated with CVID may lead to earlier CVID diagnosis and treatment and thereby potentially reduced morbidity and mortality.
Topics: Humans; Case-Control Studies; Common Variable Immunodeficiency; Early Diagnosis; Odds Ratio; Registries
PubMed: 37770805
DOI: 10.1007/s10875-023-01590-9 -
Medicine Nov 2023Transverse testicular ectopia (TTE) is a rare congenital malformation with a high rate of misdiagnosis and mistreatment before operation, which cannot be diagnosed even... (Review)
Review
RATIONALE
Transverse testicular ectopia (TTE) is a rare congenital malformation with a high rate of misdiagnosis and mistreatment before operation, which cannot be diagnosed even during operation due to lack of knowledge.
PATIENT CONCERNS
Two patients with ectopic testes who were misdiagnosed as right inguinal hernia for the first time and underwent surgery. The "ovary" and "testicle" like structures was seen in the right inguinal region during the first operation. After being transferred to our hospital for laparoscopic surgery, it was found that the left spermatic cord and testis were transversely transverted to the right, the left testis was fixed at the right inner ring, and agglomerated soft tissue could be seen in the right inguinal canal, which was suspected to be Muller tube.
DIAGNOSES
Based on preoperative images and intraoperative findings, both cases were diagnosed with Transverse testicular ectopia (TTE). The postoperative pathology report for the second patient revealed the presence of an in situ spermatogenic cell tumor in the ectopic testis.
INTERVENTIONS
Preperitoneal tension-free repair of right inguinal hernia and resection of left cryptorchidism were performed on the 2 patients.
OUTCOMES
Postoperative pathology of the first patient confirmed that the resected specimens contained tubal-like and uterine-like structures. The postoperative pathology of the second patient showed that the resected tissue consists of immature testis, epididymis, uterus and seminal vesicle glands, in which an in situ spermatogenic tumor could be seen in the testicular tissue. Postoperative diagnosis: left transversal testicular ectopia and right indirect inguinal hernia.
LESSONS
The clinical misdiagnosis and mistreatment rate of TTE is very high. Once the patients with cryptorchidism complicated with inguinal hernia are found in clinic, the possibility of the disease must be considered. For the patients whose cryptorchidism does not descend into the ipsilateral scrotum and it is difficult to diagnose, laparoscopy can be used for both diagnosis and treatment. If a patient has both inguinal hernia and cryptorchidism, it is crucial to rule out a diagnosis of TTE to prevent misdiagnosis and inappropriate treatment.
Topics: Humans; Male; Cryptorchidism; Diagnostic Errors; Hernia, Inguinal; Neoplasms; Testis
PubMed: 37933018
DOI: 10.1097/MD.0000000000035850 -
Cytopathology : Official Journal of the... Sep 2023COVID-19 vaccine-associated clinical lymphadenopathy (C19-LAP) and subclinical lymphadenopathy (SLDI), which are mainly detected by 18F-FDG PET-CT, have been observed... (Review)
Review
COVID-19 vaccine-associated clinical lymphadenopathy (C19-LAP) and subclinical lymphadenopathy (SLDI), which are mainly detected by 18F-FDG PET-CT, have been observed after the introduction of RNA-based vaccines during the pandemic. Lymph node (LN) fine needle aspiration cytology (FNAC) has been used to diagnose single cases or small series of SLDI and C19-LAP. In this review, clinical and LN-FNAC features of SLDI and C19-LAP are reported and compared to non-Covid (NC)-LAP. A search for studies on C19-LAP and SLDI histopathology and cytopathology was performed on PubMed and Google Scholar, on 11 January 2023. Reports on LN-FNAC of C19-LAP were retrieved. A total of 14 reports, plus one unpublished case of C19-LAP observed in our institution, diagnosed by LN-FNAC were included in a pooled analysis and compared to the corresponding histopathological reports. In total, 26 cases were included in this review, with a mean age of 50.5 years. Twenty-one lymphadenopathies assessed by LN-FNAC were diagnosed as benign, and three cases as atypical lymphoid hyperplasia; the latter were subsequently confirmed as benign (one by repetition of LN-FNAC, two by histological control). One case of mediastinal lymphadenopathy in a patient suffering from melanoma was reported as reactive granulomatous inflammation, while one unsuspected case was diagnosed as metastasis from melanoma. In all cases, the cytological diagnoses were confirmed by follow-up or excisional biopsy. The high diagnostic value of LN-FNAC in excluding malignant processes was extremely useful in this context and may be particularly valuable when CNB or histological excisions are difficult to perform, as was the case during Covid lockdowns.
Topics: Humans; Middle Aged; Biopsy, Fine-Needle; Communicable Disease Control; COVID-19; COVID-19 Vaccines; Lymphadenopathy; Melanoma; Positron Emission Tomography Computed Tomography
PubMed: 36807950
DOI: 10.1111/cyt.13221 -
BMC Primary Care Oct 2023Although early detection of lung cancer through screening is associated with better prognosis, most lung cancers are diagnosed among unscreened individuals. We therefore...
BACKGROUND
Although early detection of lung cancer through screening is associated with better prognosis, most lung cancers are diagnosed among unscreened individuals. We therefore sought to characterize pathways to lung cancer diagnosis among unscreened individuals.
METHODS
Participants were individuals with lung cancer who did not undergo asymptomatic lung cancer screening (n = 13) and healthcare providers who may be involved in the pathway to lung cancer diagnosis (n = 13). We conducted semi-structured interviews to identify themes in lung cancer patients' narratives of their cancer diagnoses and providers' personal and/or professional experiences of various pathways to lung cancer diagnoses, to identify delays in diagnosis. We audio-recorded, transcribed, and coded interviews in two stages. First, we conducted deductive coding using three time-period intervals from the Models of Pathways to Treatment framework: appraisal, help-seeking, and diagnostic (i.e., excluding pre-treatment). Second, we conducted inductive coding to identify themes within each time-period interval, and classified these themes as either barriers or facilitators to diagnosis. Coding and thematic summarization were completed independently by two separate analysts who discussed for consensus.
RESULTS
Eight of the patient participants had formerly smoked, and five had never smoked. We identified eight barrier/facilitator themes within the three time-period intervals. Within the appraisal interval, the barrier theme was (1) minimization or misattribution of symptoms, and the facilitator theme was (2) acknowledgment of symptoms. Within the help-seeking interval, the barrier theme was (3) hesitancy to seek care, and the facilitator theme was (4) routine care. Within the diagnosis interval, barrier themes were (5) health system challenges, and (6) social determinants of health; and facilitator themes were (7) severe symptoms and known risk factors, and (8) self-advocacy. Many themes were interrelated, including minimization or misattribution of symptoms and hesitancy to seek care, which may collectively contribute to care and imaging delays.
CONCLUSIONS
Interventions to reduce hesitancy to seek care may facilitate timely lung cancer diagnoses. More prompt referral to imaging-especially computed tomography (CT)-among symptomatic patients, along with patient self-advocacy for imaging, may reduce delays in diagnosis.
Topics: Humans; Lung Neoplasms; Early Detection of Cancer; Qualitative Research; Health Personnel
PubMed: 37789288
DOI: 10.1186/s12875-023-02158-7 -
American Journal of Perinatology May 2024Platelet function parameters can be predictive of several adult diseases and their severity. However, few studies report on the association between platelet indices...
OBJECTIVE
Platelet function parameters can be predictive of several adult diseases and their severity. However, few studies report on the association between platelet indices and neonatal diseases, specifically necrotizing enterocolitis (NEC). The objective of this study is to investigate whether platelet indices are associated with NEC diagnosis and NEC-related mortality.
STUDY DESIGN
We retrospectively examined records from infants admitted to the neonatal intensive care unit with a diagnosis of NEC, verified by the presence of pneumatosis on X-ray or pathology at surgery. We compared them with an age-matched group of prematures without NEC. We investigated platelet count, mean platelet volume (MPV), platelet distribution width and red cell distribution width to platelet ratio (RPR) and delta platelets from birth to the time of NEC diagnosis or day of life 14 in the control group.
RESULTS
Sixty-nine infants with NEC and 78 control infants were studied. Basic sociodemographic data were similar in both groups. All platelet parameters measured-except for MPV-were significantly associated with NEC diagnosis. Although MPV was not associated with the diagnosis of NEC ( = 0.800), it was significantly associated with NEC-related mortality ( < 0.001). Only total platelet count and RPR were significantly associated with both NEC diagnosis ( < 0.0001) and mortality ( = 0.04 and 0.01, respectively). On multivariable analysis only the change in platelet count from birth to time of diagnosis remained significant.
CONCLUSION
While not definitive, this study demonstrates that these routinely available, inexpensive, and easily calculated platelet indices can provide a clinical adjunct in the often-elusive attempts to definitively diagnose NEC in preterm neonates.
KEY POINTS
· Platelet indices were associated with NEC diagnosis.. · MPV was predictive of NEC-related mortality.. · Delta platelet count from birth was significantly related to NEC diagnosis..
Topics: Humans; Enterocolitis, Necrotizing; Retrospective Studies; Infant, Newborn; Male; Female; Platelet Count; Mean Platelet Volume; Case-Control Studies; Intensive Care Units, Neonatal; Infant, Premature; Gestational Age
PubMed: 36918160
DOI: 10.1055/a-2053-7759 -
MedRxiv : the Preprint Server For... Sep 2023To evaluate the efficiency of large language models (LLMs) including ChatGPT to assist in diagnosing neuro-ophthalmic diseases based on case reports.
PURPOSE
To evaluate the efficiency of large language models (LLMs) including ChatGPT to assist in diagnosing neuro-ophthalmic diseases based on case reports.
DESIGN
Prospective study.
SUBJECTS OR PARTICIPANTS
We selected 22 different case reports of neuro-ophthalmic diseases from a publicly available online database. These cases included a wide range of chronic and acute diseases that are commonly seen by neuro-ophthalmic sub-specialists.
METHODS
We inserted the text from each case as a new prompt into both ChatGPT v3.5 and ChatGPT Plus v4.0 and asked for the most probable diagnosis. We then presented the exact information to two neuro-ophthalmologists and recorded their diagnoses followed by comparison to responses from both versions of ChatGPT.
MAIN OUTCOME MEASURES
Diagnostic accuracy in terms of number of correctly diagnosed cases among diagnoses.
RESULTS
ChatGPT v3.5, ChatGPT Plus v4.0, and the two neuro-ophthalmologists were correct in 13 (59%), 18 (82%), 19 (86%), and 19 (86%) out of 22 cases, respectively. The agreement between the various diagnostic sources were as follows: ChatGPT v3.5 and ChatGPT Plus v4.0, 13 (59%); ChatGPT v3.5 and the first neuro-ophthalmologist, 12 (55%); ChatGPT v3.5 and the second neuro-ophthalmologist, 12 (55%); ChatGPT Plus v4.0 and the first neuro-ophthalmologist, 17 (77%); ChatGPT Plus v4.0 and the second neuro-ophthalmologist, 16 (73%); and first and second neuro-ophthalmologists 17 (17%).
CONCLUSIONS
The accuracy of ChatGPT v3.5 and ChatGPT Plus v4.0 in diagnosing patients with neuro-ophthalmic diseases was 59% and 82%, respectively. With further development, ChatGPT Plus v4.0 may have potential to be used in clinical care settings to assist clinicians in providing quick, accurate diagnoses of patients in neuro-ophthalmology. The applicability of using LLMs like ChatGPT in clinical settings that lack access to subspeciality trained neuro-ophthalmologists deserves further research.
PubMed: 37781591
DOI: 10.1101/2023.09.13.23295508 -
Medical Ultrasonography Sep 2023Portal Venous Gas (PVG) provides an important differential diagnosis in the diagnose of intrahepatic reflexogenic structures. This review article is intended to provide... (Review)
Review
Portal Venous Gas (PVG) provides an important differential diagnosis in the diagnose of intrahepatic reflexogenic structures. This review article is intended to provide an overview of the current literature on the detection of PVG, its special forms and important differential diagnoses, it also shows possibilities for the diagnostic procedure in the case of sonographic detection of PVG.
Topics: Humans; Gases; Portal Vein; Ultrasonography; Diagnosis, Differential; Tomography, X-Ray Computed
PubMed: 36780605
DOI: 10.11152/mu-4010 -
Fertility and Sterility Feb 2024Endometriosis affects 1 in 9 women, taking 6.4 years to diagnose using conventional laparoscopy. Non-invasive imaging enables timelier diagnosis, reducing diagnostic... (Review)
Review
Noninvasive diagnostic imaging for endometriosis part 2: a systematic review of recent developments in magnetic resonance imaging, nuclear medicine and computed tomography.
Endometriosis affects 1 in 9 women, taking 6.4 years to diagnose using conventional laparoscopy. Non-invasive imaging enables timelier diagnosis, reducing diagnostic delay, risk and expense of surgery. This review updates literature exploring the diagnostic value of specialist endometriosis magnetic resonance imaging (eMRI), nuclear medicine (NM) and computed tomography (CT). Searching after the 2016 IDEA consensus, 6192 publications were identified, with 27 studies focused on imaging for endometriosis. eMRI was the subject of 14 papers, NM and CT, 11, and artificial intelligence (AI) utilizing eMRI, 2. eMRI papers describe diagnostic accuracy for endometriosis, methodologies, and innovations. Advantages of eMRI include its: ability to diagnose endometriosis in those unable to tolerate transvaginal endometriosis ultrasound (eTVUS); a panoramic pelvic view, easy translation to surgical fields; identification of hyperintense iron in endometriotic lesions; and ability to identify super-pelvic lesions. Sequence standardization means eMRI is less operator-dependent than eTVUS, but higher costs limit its role to a secondary diagnostic modality. eMRI for deep and ovarian endometriosis has sensitivities of 91-93.5% and specificities of 86-87.5% making it reliable for surgical mapping and diagnosis. Superficial lesions too small for detection in larger capture sequences, means a negative eMRI doesn't exclude endometriosis. Combined with thin sequence capture and improved reader expertise, eMRI is poised for rapid adoption into clinical practice. NM labeling is diagnostically limited in absence of suitable unique marker for endometrial-like tissue. CT studies expose the reproductively aged to radiation. AI diagnostic tools, combining independent eMRI and eTVUS endometriosis markers, may result in powerful capability. Broader eMRI use, will optimize standards and protocols. Reporting systems correlating to surgical anatomy will facilitate interdisciplinary preoperative dialogues. eMRI endometriosis diagnosis should reduce repeat surgeries with mental and physical health benefits for patients. There is potential for early eMRI diagnoses to prevent chronic pain syndromes and protect fertility outcomes.
Topics: Humans; Female; Aged; Endometriosis; Nuclear Medicine; Artificial Intelligence; Delayed Diagnosis; Ultrasonography; Magnetic Resonance Imaging; Tomography, X-Ray Computed
PubMed: 38110143
DOI: 10.1016/j.fertnstert.2023.12.017 -
Oral Radiology Jul 2024The recent impact of artificial intelligence in diagnostic services has been enormous. Machine learning tools offer an innovative alternative to diagnose cysts and... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The recent impact of artificial intelligence in diagnostic services has been enormous. Machine learning tools offer an innovative alternative to diagnose cysts and tumors radiographically that pose certain challenges due to the near similar presentation, anatomical variations, and superimposition. It is crucial that the performance of these models is evaluated for their clinical applicability in diagnosing cysts and tumors.
METHODS
A comprehensive literature search was carried out on eminent databases for published studies between January 2015 and December 2022. Studies utilizing machine learning models in the diagnosis of odontogenic cysts or tumors using Orthopantomograms (OPG) or Cone Beam Computed Tomographic images (CBCT) were included. QUADAS-2 tool was used for the assessment of the risk of bias and applicability concerns. Meta-analysis was performed for studies reporting sufficient performance metrics, separately for OPG and CBCT.
RESULTS
16 studies were included for qualitative synthesis including a total of 10,872 odontogenic cysts and tumors. The sensitivity and specificity of machine learning in diagnosing cysts and tumors through OPG were 0.83 (95% CI 0.81-0.85) and 0.82 (95% CI 0.81-0.83) respectively. Studies utilizing CBCT noted a sensitivity of 0.88 (95% CI 0.87-0.88) and specificity of 0.88 (95% CI 0.87-0.89). Highest classification accuracy was 100%, noted for Support Vector Machine classifier.
CONCLUSION
The results from the present review favoured machine learning models to be used as a clinical adjunct in the radiographic diagnosis of odontogenic cysts and tumors, provided they undergo robust training with a huge dataset. However, the arduous process, investment, and certain ethical concerns associated with the total dependence on technology must be taken into account. Standardized reporting of outcomes for diagnostic studies utilizing machine learning methods is recommended to ensure homogeneity in assessment criteria, facilitate comparison between different studies, and promote transparency in research findings.
Topics: Humans; Machine Learning; Odontogenic Cysts; Odontogenic Tumors; Sensitivity and Specificity; Cone-Beam Computed Tomography
PubMed: 38530559
DOI: 10.1007/s11282-024-00745-7