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Archives of Disease in Childhood Oct 2023To determine the incidence of fetal alcohol syndrome (FAS) in the UK in children aged 0-16 years.
OBJECTIVE
To determine the incidence of fetal alcohol syndrome (FAS) in the UK in children aged 0-16 years.
DESIGN
Active surveillance was undertaken through the British Paediatric Surveillance Unit between October 2018 and October 2019 inclusive. Data were collected from reporting clinicians using standardised questionnaires.
PATIENTS
Children aged 0-16 years in the UK and Ireland with a diagnosis of FAS seen in the previous month. This study did not include children with fetal alcohol spectrum disorder.
MAIN OUTCOME MEASURES
Demographic details (including age and ethnicity), details of exposure, growth parameters, neurological and cognitive diagnoses, and service usage.
RESULTS
148 notifications were received. After exclusions and withdrawals, there were 10 confirmed and 37 probable cases (analysed together). Just 24 of these children were newly diagnosed with FAS during the surveillance period, giving an estimated incidence rate of 3.4/100 000 live births (95% CI 2.2 to 5.0); their median age at diagnosis was just over 5 years and they were diagnosed between 3 months and 14 years 3 months of age.
CONCLUSIONS
The estimated incidence rate of FAS is lower than reported by similar studies and there was a wide variation in the age that cases were diagnosed. This, combined with the fact that many cases were notified and then withdrawn or excluded, suggests that in the UK there is a lack of consistency and certainty in diagnosing FAS. The study findings strongly support the need to educate key professionals involved in the care of infants and children at risk of FAS.
Topics: Infant; Child; Pregnancy; Female; Humans; Fetal Alcohol Spectrum Disorders; Ethnicity; Ireland; Population Surveillance; United Kingdom
PubMed: 37451833
DOI: 10.1136/archdischild-2023-325571 -
World Journal of Gastroenterology Sep 2023Delayed passage of meconium or constipation during the perinatal period is traditionally regarded as a signal to initiate further work up to evaluate for serious... (Review)
Review
Delayed passage of meconium or constipation during the perinatal period is traditionally regarded as a signal to initiate further work up to evaluate for serious diagnoses such as Hirschsprung's disease (HD), meconium ileus due to Cystic Fibrosis, The diagnosis of HD particularly warrants invasive testing to confirm the diagnosis, such as anorectal manometry or rectal suction biopsy. What if there was another etiology of perinatal constipation, that is far lesser known? Cow's milk protein allergy (CMPA) is often diagnosed in infants within the first few weeks of life, however, there are studies that show that the CMPA allergen can be passed from mother to an infant in-utero, therefore allowing symptoms to show as early as day one of life. The presentation is more atypical, with perinatal constipation rather than with bloody stools, diarrhea, and vomiting. The diagnosis and management would be avoidance of cow's milk protein within the diet, with results and symptom improvement in patients immediately. Therefore, we discuss whether an alternative pathway to address perinatal constipation should be further discussed and implemented to potentially avoid invasive techniques in patients. This entails first ruling out CMPA with safe, noninvasive techniques with diet modification, and if unsuccessful, then moving forward with further diagnostic modalities.
Topics: Animals; Cattle; Female; Infant; Pregnancy; Humans; Milk Hypersensitivity; Constipation; Biopsy; Diarrhea; Hirschsprung Disease
PubMed: 37731998
DOI: 10.3748/wjg.v29.i33.4920 -
Journal of Clinical Medicine Aug 2023Spinal cord tumors are infrequently identified spinal diseases that are often difficult to diagnose even with magnetic resonance imaging (MRI) findings. To minimize the...
Spinal cord tumors are infrequently identified spinal diseases that are often difficult to diagnose even with magnetic resonance imaging (MRI) findings. To minimize the probability of overlooking these tumors and improve diagnostic accuracy, an automatic diagnostic system is needed. We aimed to develop an automated system for detecting and diagnosing spinal schwannomas and meningiomas based on deep learning using You Only Look Once (YOLO) version 4 and MRI. In this retrospective diagnostic accuracy study, the data of 50 patients with spinal schwannomas, 45 patients with meningiomas, and 100 control cases were reviewed, respectively. Sagittal T1-weighted (T1W) and T2-weighted (T2W) images were used for object detection, classification, training, and validation. The object detection and diagnosis system was developed using YOLO version 4. The accuracies of the proposed object detections based on T1W, T2W, and T1W + T2W images were 84.8%, 90.3%, and 93.8%, respectively. The accuracies of the object detection for two spine surgeons were 88.9% and 90.1%, respectively. The accuracies of the proposed diagnoses based on T1W, T2W, and T1W + T2W images were 76.4%, 83.3%, and 84.1%, respectively. The accuracies of the diagnosis for two spine surgeons were 77.4% and 76.1%, respectively. We demonstrated an accurate, automated detection and diagnosis of spinal schwannomas and meningiomas using the developed deep learning-based method based on MRI. This system could be valuable in supporting radiological diagnosis of spinal schwannomas and meningioma, with a potential of reducing the radiologist's overall workload.
PubMed: 37568477
DOI: 10.3390/jcm12155075 -
ESC Heart Failure Aug 2023The aim of the meta-analysis was to generate a more comprehensive understanding of the HFA-PEFF score in the diagnosis of heart failure with preserved ejection fraction... (Meta-Analysis)
Meta-Analysis Review
The aim of the meta-analysis was to generate a more comprehensive understanding of the HFA-PEFF score in the diagnosis of heart failure with preserved ejection fraction (HFpEF) and to pose clues in the field of scientific and clinical practice. Electronic databases of PubMed, Web of Science, Cochrane Library, and Embase were systematically searched. Studies investigating the use of the HFA-PEFF score to diagnose HFpEF were included. Pooled sensitivity, specificity, positive likelihood ratio (PLR) and negative Likelihood Ratio (NLR), diagnostic odds ratio (DOR), area under the curve of summary receiver operating characteristic, and superiority index were calculated. Five studies with 1521 participants were included in this meta-analysis. In the pooled analysis of the 'Rule-out' approach, the pooled sensitivity, specificity, PLR, NLR, and DOR were 0.98 (0.94, 1.00), 0.33 (0.08, 0.73), 1.5 (0.8, 2.5), 0.05 (0.02, 0.17), and 28 (6, 127). In the pooled analysis of the 'Rule-in' approach, the pooled sensitivity and specificity, PLR, NLR, and DOR were 0.69 (0.62, 0.75), 0.87 (0.64, 0.96), 5.5 (1.8, 16.9), 0.35 (0.30, 0.41), and 16 (5, 50). This meta-analysis indicates that the HFA-PEFF algorithm showed acceptable specificity and sensitivity for the diagnosis and exclusion of HFpEF. More relevant studies on the diagnostic validity of the HFA-PEFF score are needed in the future.
Topics: Humans; Heart Failure; Stroke Volume; Sensitivity and Specificity; ROC Curve; Algorithms
PubMed: 37292053
DOI: 10.1002/ehf2.14421 -
ESC Heart Failure Aug 2023The HFA-PEFF algorithm (Heart Failure Association-Pre-test assessment, Echocardiography and natriuretic peptide score, Functional testing in cases of uncertainty, Final...
AIMS
The HFA-PEFF algorithm (Heart Failure Association-Pre-test assessment, Echocardiography and natriuretic peptide score, Functional testing in cases of uncertainty, Final aetiology) is a three-step algorithm to diagnose heart failure with preserved ejection fraction (HFpEF). It provides a three-level likelihood of HFpEF: low (score < 2), intermediate (score 2-4), or high (score > 4). HFpEF may be confirmed in individuals with a score > 4 (rule-in approach). The second step of the algorithm is based on echocardiographic features and natriuretic peptide levels. The third step implements diastolic stress echocardiography (DSE) for controversial diagnostic cases. We sought to validate the three-step HFA-PEFF algorithm against a haemodynamic diagnosis of HFpEF based on rest and exercise right heart catheterization (RHC).
METHODS AND RESULTS
Seventy-three individuals with exertional dyspnoea underwent a full diagnostic work-up following the HFA-PEFF algorithm, including DSE and rest/exercise RHC. The association between the HFA-PEFF score and a haemodynamic diagnosis of HFpEF, as well as the diagnostic performance of the HFA-PEFF algorithm vs. RHC, was assessed. The diagnostic performance of left atrial (LA) strain < 24.5% and LA strain/E/E' < 3% was also assessed. The probability of HFpEF was low/intermediate/high in 8%/52%/40% of individuals at the second step of the HFA-PEFF algorithm and 8%/49%/43% at the third step. After RHC, 89% of patients were diagnosed as HFpEF and 11% as non-cardiac dyspnoea. The HFA-PEFF score resulted associated with the invasive haemodynamic diagnosis of HFpEF (P < 0.001). Sensitivity and specificity of the HFA-PEFF score for the invasive haemodynamic diagnosis of HFpEF were 45% and 100% for the second step of the algorithm and 46% and 88% for the third step of the algorithm. Neither age, sex, body mass index, obesity, chronic obstructive pulmonary disease, or paroxysmal atrial fibrillation influenced the performance of the HFA-PEFF algorithm, as these characteristics were similarly distributed over the true positive, true negative, false positive, and false negative cases. Sensitivity of the second step of the HFA-PEFF score was non-significantly improved to 60% (P = 0.08) by lowering the rule-in threshold to >3. LA strain alone had a sensitivity and specificity of 39% and 14% for haemodynamic HFpEF, increasing to 55% and 22% when corrected for E/E'.
CONCLUSIONS
As compared with rest/exercise RHC, the HFA-PEFF score lacks sensitivity: Half of the patients were wrongly classified as non-cardiac dyspnoea after non-invasive tests, with a minimal impact of DSE in modifying HFpEF likelihood.
Topics: Humans; Heart Failure; Stroke Volume; Hemodynamics; Natriuretic Peptides; Dyspnea; Algorithms
PubMed: 37321596
DOI: 10.1002/ehf2.14436 -
Journal of Dentistry Oct 2023Given the increasing incidence of oral cancer, it is essential to provide high-risk communities, especially in remote regions, with an affordable, user-friendly tool for...
OBJECTIVES
Given the increasing incidence of oral cancer, it is essential to provide high-risk communities, especially in remote regions, with an affordable, user-friendly tool for visual lesion diagnosis. This proof-of-concept study explored the utility and feasibility of a smartphone application that can photograph and diagnose oral lesions.
METHODS
The images of oral lesions with confirmed diagnoses were sourced from oral and maxillofacial textbooks. In total, 342 images were extracted, encompassing lesions from various regions of the oral cavity such as the gingiva, palate, and labial mucosa. The lesions were segregated into three categories: Class 1 represented non-neoplastic lesions, Class 2 included benign neoplasms, and Class 3 contained premalignant/malignant lesions. The images were analysed using MobileNetV3 and EfficientNetV2 models, with the process producing an accuracy curve, confusion matrix, and receiver operating characteristic (ROC) curve.
RESULTS
The EfficientNetV2 model showed a steep increase in validation accuracy early in the iterations, plateauing at a score of 0.71. According to the confusion matrix, this model's testing accuracy for diagnosing non-neoplastic and premalignant/malignant lesions was 64% and 80% respectively. Conversely, the MobileNetV3 model exhibited a more gradual increase, reaching a plateau at a validation accuracy of 0.70. The MobileNetV3 model's testing accuracy for diagnosing non-neoplastic and premalignant/malignant lesions, according to the confusion matrix, was 64% and 82% respectively.
CONCLUSIONS
Our proof-of-concept study effectively demonstrated the potential accuracy of AI software in distinguishing malignant lesions. This could play a vital role in remote screenings for populations with limited access to dental practitioners. However, the discrepancies between the classification of images and the results of "non-malignant lesions" calls for further refinement of the models and the classification system used.
CLINICAL SIGNIFICANCE
The findings of this study indicate that AI software has the potential to aid in the identification or screening of malignant oral lesions. Further improvements are required to enhance accuracy in classifying non-malignant lesions.
Topics: Humans; Dentists; Professional Role; Neural Networks, Computer; ROC Curve; Software
PubMed: 37574105
DOI: 10.1016/j.jdent.2023.104657 -
Respiratory Investigation Sep 2023Interferon-γ release assays (IGRAs), such as QuantiFERON-TB Gold (QFT) or T-SPOT.TB, are frequently used as tools for the diagnosis of tuberculosis (TB) infection in... (Review)
Review
Interferon-γ release assays (IGRAs), such as QuantiFERON-TB Gold (QFT) or T-SPOT.TB, are frequently used as tools for the diagnosis of tuberculosis (TB) infection in the 21st century. QFT-Plus recently emerged as the fourth generation of QFT assays and has replaced QFT In-Tube. However, IGRAs have several problems regarding the identification of active, latent, and cured TB infection, and the time-consuming diagnosis of TB infection because of the overnight incubation of clinical specimens or complexity of measuring the level of interferon (IFN)-γ. To easily diagnose TB infection and quickly compare it with conventional IGRAs, many in vitro tests are developed based on assays other than enzyme-linked immunosorbent assay or enzyme-linked immunospot, such as the fluorescent lateral flow assay that requires less manual operation and a shorter time. Simplified versions of IGRAs are emerging, including QIAreach QuantiFERON-TB. On the other hand, to distinguish active TB from latent or cured TB infection, new immunodiagnostic biomarkers beyond IFN-γ are evaluated using QFT supernatants. While IFN-γ or IFN-γ-related chemokine such as IFN-γ induced protein 10 is a potential biomarker in patients with active TB, interleukin-2 or latency-associated antigen such as heparin-binding hemagglutinin may be useful to distinguish active TB from latent or cured TB infection. There are no potential biomarkers to fully distinguish the time-phase of TB infection at present. It is necessary to discover new immunodiagnostic biomarkers to facilitate decisions on treatment selection for active or latent TB infection.
Topics: Humans; Latent Tuberculosis; Tuberculosis; Interferon-gamma Release Tests; Interferon-gamma; Biomarkers; Mycobacterium tuberculosis
PubMed: 37406419
DOI: 10.1016/j.resinv.2023.04.010 -
Frontiers in Immunology 2023The prevalence of brain cancer has been increasing in recent decades, posing significant healthcare challenges. The introduction of immunotherapies has brought forth... (Review)
Review
The prevalence of brain cancer has been increasing in recent decades, posing significant healthcare challenges. The introduction of immunotherapies has brought forth notable diagnostic imaging challenges for brain tumors. The tumor microenvironment undergoes substantial changes in induced immunosuppression and immune responses following the development of primary brain tumor and brain metastasis, affecting the progression and metastasis of brain tumors. Consequently, effective and accurate neuroimaging techniques are necessary for clinical practice and monitoring. However, patients with brain tumors might experience radiation-induced necrosis or other neuroinflammation. Currently, positron emission tomography and various magnetic resonance imaging techniques play a crucial role in diagnosing and evaluating brain tumors. Nevertheless, differentiating between brain tumors and necrotic lesions or inflamed tissues remains a significant challenge in the clinical diagnosis of the advancements in immunotherapeutics and precision oncology have underscored the importance of clinically applicable imaging measures for diagnosing and monitoring neuroinflammation. This review summarizes recent advances in neuroimaging methods aimed at enhancing the specificity of brain tumor diagnosis and evaluating inflamed lesions.
Topics: Humans; Neuroinflammatory Diseases; Precision Medicine; Brain Neoplasms; Positron-Emission Tomography; Molecular Imaging; Tumor Microenvironment
PubMed: 37533851
DOI: 10.3389/fimmu.2023.1211900 -
Infection Oct 2023We aimed to review the landscape of late HIV diagnosis in Germany and discuss persisting and emerging barriers to earlier diagnosis alongside potential solutions. (Review)
Review
PURPOSE
We aimed to review the landscape of late HIV diagnosis in Germany and discuss persisting and emerging barriers to earlier diagnosis alongside potential solutions.
METHODS
We searched PubMed for studies informing the prevalence, trends, and factors associated with late HIV diagnosis in Germany. Author opinions were considered alongside relevant data.
RESULTS
In Germany, older individuals, heterosexuals, and migrants living with HIV are more likely to be diagnosed late. The rate of late diagnosis in men who have sex with men (MSM), however, continues to decrease. Indicator conditions less often prompt HIV testing in women and non-MSM. During the COVID-19 pandemic, the absolute number of late diagnoses fell in Germany, but the overall proportion increased, probably reflecting lower HIV testing rates. The Ukraine war and subsequent influx of Ukrainians living with HIV may have substantially increased undiagnosed HIV cases in Germany. Improved indicator testing (based on unbiased assessments of patient risk) and universal testing could help reduce late diagnoses. In patients who receive a late HIV diagnosis, rapid treatment initiation with robust ART regimens, and management and prevention of opportunistic infections, are recommended owing to severely compromised immunity and increased risks of morbidity and mortality.
CONCLUSION
Joint efforts are needed to ensure that UNAIDS 95-95-95 2030 goals are met in Germany. These include greater political will, increased funding of education and testing campaigns (from government institutions and the pharmaceutical industry), continued education about HIV testing by HIV experts, and broad testing support for physicians not routinely involved in HIV care.
Topics: Male; Humans; Female; Homosexuality, Male; HIV Infections; Delayed Diagnosis; Prevalence; Pandemics; Sexual and Gender Minorities; COVID-19; Germany; COVID-19 Testing
PubMed: 37470977
DOI: 10.1007/s15010-023-02064-1 -
European Journal of Case Reports in... 2024Hyperargininemia is a rare inherited metabolic disorder of the urea cycle with an autosomal recessive transmission. It occurs due to a deficiency of the enzyme arginase...
BACKGROUND
Hyperargininemia is a rare inherited metabolic disorder of the urea cycle with an autosomal recessive transmission. It occurs due to a deficiency of the enzyme arginase I and causes progressive neurological damage. Very few cases are diagnosed in adulthood, with the majority being diagnosed before the age of 4. Currently, this condition is diagnosed by a mass spectrometry technique in neonatal screening, which has been implemented in Portugal since 2007; births before that were not screened for this entity.
CASE DESCRIPTION
We present a case of a 23-year-old woman referred to the internal medicine and neurology departments with a history of two hospital admissions for rhabdomyolysis at the age of 18, consanguineous parents, learning difficulties and multiple falls since the age of 8. In addition, the patient also had behavioural changes so she had psychological counselling at school, but lacked family support. Neurological examination showed mild proximal paraparesis, and spastic and paraparetic gait. The aetiological study revealed a pathological variant in homozygosity and increased blood levels of arginine. Therefore, the diagnosis of hyperargininemia was confirmed.
CONCLUSIONS
Compared to other urea cycle disorders, hyperargininemia is the rarest one. It is important to recognise the characteristic clinical features and diagnose it early because a favourable outcome can be achieved with appropriate treatment. This case shows a delayed diagnosis of hyperargininemia and highlights the importance of the internist's role in diagnosing rare diseases.
LEARNING POINTS
Hyperargininemia is a rare hereditary metabolic disease of the urea cycle and the rarest of the disorders affecting this cycle.The diagnosis is almost always made within the first four years of life and very few are diagnosed in adulthood.Early diagnosis is essential to reduce the progression of neurological damage, through appropriate treatment.
PubMed: 38584907
DOI: 10.12890/2024_004379