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Genes Aug 2023Mucopolysaccharidosis-plus syndrome (MPSPS) is an autosomal-recessive disorder caused by c.1492C>T (p.R498W) in the gene. MPSPS is a severe disorder that causes a short...
Mucopolysaccharidosis-plus syndrome (MPSPS) is an autosomal-recessive disorder caused by c.1492C>T (p.R498W) in the gene. MPSPS is a severe disorder that causes a short lifespan in patients. Currently, there is no specific treatment for patients. The Yakut population is more prone to this disease than others. Diagnosing MPSPS relies on clinical manifestations, and genetic testing (GT) is used to confirm the diagnosis. In this research, we examined two pregnancy cases, one of which involved a prenatal diagnosis for MPSPS. Notably, neither pregnant woman had a known family history of the disorder. During their pregnancies, both women underwent prenatal ultrasonography, which revealed increased prenasal thickness during the second trimester. In the first case, ultrasonography indicated increased prenasal thickness in the second trimester, but a definitive diagnosis was not made at that time. The patient was eventually diagnosed with MPSPS at 11 months of age. On the contrary, in the second case, GT uncovered that the parents were carriers of MPSPS. Consequently, a placental biopsy was performed, leading to an early diagnosis of MPSPS. This study emphasizes the importance of ultrasonography findings in prenatal MPSPS diagnosis. Combining ultrasonography with GT can be a valuable approach to confirming MPSPS at an early stage, allowing for the appropriate planning of delivery methods and medical care. Ultimately, this comprehensive approach can significantly enhance the quality of life of both affected patients and their parents.
Topics: Pregnancy; Humans; Female; Quality of Life; Placenta; Prenatal Diagnosis; Genetic Testing; Mucopolysaccharidoses
PubMed: 37628632
DOI: 10.3390/genes14081581 -
American Heart Journal Mar 2024Objective data comparing the diagnostic performance of different ambulatory cardiac monitors (ACMs) are lacking.
BACKGROUND
Objective data comparing the diagnostic performance of different ambulatory cardiac monitors (ACMs) are lacking.
OBJECTIVES
To assess variation in monitoring strategy, clinical outcomes and healthcare utilization in patients undergoing ambulatory monitoring without a pre-existing arrhythmia diagnosis.
METHODS
Using the full sample (100%) of Medicare claims data, we performed a retrospective cohort study of diagnostic-naïve patients who received first-time ACM in 2017 to 2018 and evaluated arrhythmia encounter diagnosis at 3-months, repeat ACM testing at 6 months, all-cause 90-day emergency department (ED) and inpatient utilization, and cost of different strategies: Holter; long-term continuous monitor (LTCM); non-continuous, event-based external ambulatory event monitor (AEM); and mobile cardiac telemetry (MCT). We secondarily performed a device-specific analysis by manufacturer, identified from unique claim modifier codes.
RESULTS
ACMs were used in 287,789 patients (AEM = 10.3%; Holter = 53.8%; LTCM = 13.3%; MCT = 22.5%). Device-specific analysis showed that compared to Holter, AEM, MCT, or other LTCM manufacturers, a specific LTCM (Zio XT 14-day patch, iRhythm Technologies, San Francisco, CA) had the highest adjusted odds of diagnosis and lowest adjusted odds of ACM retesting. Findings were consistent for specific arrhythmia diagnoses of ventricular tachycardia, atrioventricular block, and paroxysmal atrial fibrillation. As a category, LTCM was associated with the lowest 1-year incremental health care expenditures (mean Δ$10,159), followed by Holter ($10,755), AEM ($11,462), and MCT ($12,532).
CONCLUSIONS
There was large variation in diagnostic monitoring strategy. A specific LTCM was associated with the highest adjusted odds of a new arrhythmia diagnosis and lowest adjusted odds of repeat ACM testing. LTCM as a category had the lowest incremental acute care utilization. Different monitoring strategies may produce different results with respect to diagnosis and care.
Topics: United States; Humans; Aged; Electrocardiography, Ambulatory; Retrospective Studies; Medicare; Atrial Fibrillation; Health Expenditures; Patient Acceptance of Health Care; Methacrylates
PubMed: 38072334
DOI: 10.1016/j.ahj.2023.12.002 -
Brazilian Journal of Physical Therapy 2023The validity of the ULTT is unclear, due to heterogeneity of test procedures and variability in the definition of a positive test OBJECTIVE: To evaluate test procedures... (Review)
Review
BACKGROUND
The validity of the ULTT is unclear, due to heterogeneity of test procedures and variability in the definition of a positive test OBJECTIVE: To evaluate test procedures and positive diagnostic criteria for the upper limb tension test (ULTT) in diagnostic test accuracy studies.
METHODS
A systematic review of diagnostic accuracy studies was performed. We conducted a search of the DiTA (Diagnostic Test Accuracy) database and selected primary studies evaluating the diagnostic accuracy of the ULTT. We assessed risk of bias, performed data extraction on study characteristics, test procedures, and positive diagnostic criteria, and performed a descriptive analysis.
RESULTS
We included nine studies (681 participants), four diagnosing people with cervical radiculopathy (CR), four diagnosing people with carpal tunnel syndrome (CTS), and one included both CR and CTS. The risk of bias varied between 2 and 6 out of 6 positive items. Eight studies reported on the ULTT1 (median nerve). Overall, all studies clearly described their test procedures and positive diagnostic criteria although the order of movements and the diagnostic criteria between studies varied. We suggest a more standardised test procedure for the ULTT1 to consist of: 1) stabilising the shoulder in abduction, 2) extending the wrist/fingers, 3) supinating the forearm, 4) externally rotating the shoulder, 5) extending the elbow, and finally 6) performed structural differentiation by side bending (lateral flexion) of the neck. This proposed test procedure should reproduce the symptoms and enables the clinician to evaluate whether symptoms increase/decrease when stressing or relaxing the nerves.
CONCLUSION
Based on our findings we proposed a more standardised test procedure for the ULTT1 with accompanying positive diagnostic criteria to facilitate homogeneity in future diagnostic accuracy studies of the ULTT.
Topics: Humans; Physical Examination; Upper Extremity; Wrist; Carpal Tunnel Syndrome; Fingers
PubMed: 37967500
DOI: 10.1016/j.bjpt.2023.100558 -
Ophthalmology and Therapy Dec 2023The purpose of this study was to evaluate the capabilities of large language models such as Chat Generative Pretrained Transformer (ChatGPT) to diagnose glaucoma based...
INTRODUCTION
The purpose of this study was to evaluate the capabilities of large language models such as Chat Generative Pretrained Transformer (ChatGPT) to diagnose glaucoma based on specific clinical case descriptions with comparison to the performance of senior ophthalmology resident trainees.
METHODS
We selected 11 cases with primary and secondary glaucoma from a publicly accessible online database of case reports. A total of four cases had primary glaucoma including open-angle, juvenile, normal-tension, and angle-closure glaucoma, while seven cases had secondary glaucoma including pseudo-exfoliation, pigment dispersion glaucoma, glaucomatocyclitic crisis, aphakic, neovascular, aqueous misdirection, and inflammatory glaucoma. We input the text of each case detail into ChatGPT and asked for provisional and differential diagnoses. We then presented the details of 11 cases to three senior ophthalmology residents and recorded their provisional and differential diagnoses. We finally evaluated the responses based on the correct diagnoses and evaluated agreements.
RESULTS
The provisional diagnosis based on ChatGPT was correct in eight out of 11 (72.7%) cases and three ophthalmology residents were correct in six (54.5%), eight (72.7%), and eight (72.7%) cases, respectively. The agreement between ChatGPT and the first, second, and third ophthalmology residents were 9, 7, and 7, respectively.
CONCLUSIONS
The accuracy of ChatGPT in diagnosing patients with primary and secondary glaucoma, using specific case examples, was similar or better than senior ophthalmology residents. With further development, ChatGPT may have the potential to be used in clinical care settings, such as primary care offices, for triaging and in eye care clinical practices to provide objective and quick diagnoses of patients with glaucoma.
PubMed: 37707707
DOI: 10.1007/s40123-023-00805-x -
Scientific Reports Oct 2023Although the placement of an intraventricular catheter remains the gold standard method for the diagnosis of intracranial hypertension (ICH), the technique has several...
Although the placement of an intraventricular catheter remains the gold standard method for the diagnosis of intracranial hypertension (ICH), the technique has several limitations including but not limited to its invasiveness. Current noninvasive methods, however, still lack robust evidence to support their clinical use. We aimed to estimate, as an exploratory hypothesis generating analysis, the discriminative power of four noninvasive methods to diagnose ICH. We prospectively collected data from adult intensive care unit (ICU) patients with subarachnoid hemorrhage (SAH), intraparenchymal hemorrhage (IPH), and ischemic stroke (IS) in whom invasive intracranial pressure (ICP) monitoring had been placed. Measures were simultaneously collected from the following noninvasive methods: optic nerve sheath diameter (ONSD), pulsatility index (PI) using transcranial Doppler (TCD), a 5-point visual scale designed for brain Computed Tomography (CT), and two parameters (time-to-peak [TTP] and P2/P1 ratio) of a noninvasive ICP wave morphology monitor (Brain4Care[B4c]). ICH was defined as a sustained ICP > 20 mmHg for at least 5 min. We studied 18 patients (SAH = 14; ICH = 3; IS = 1) on 60 occasions with a mean age of 52 ± 14.3 years. All methods were recorded simultaneously, except for the CT, which was performed within 24 h of the other methods. The median ICP was 13 [9.8-16.2] mmHg, and intracranial hypertension was present on 18 occasions (30%). Median values from the noninvasive techniques were ONSD 4.9 [4.40-5.41] mm, PI 1.22 [1.04-1.43], CT scale 3 points [IQR: 3.0], P2/P1 ratio 1.16 [1.09-1.23], and TTP 0.215 [0.193-0.237]. There was a significant statistical correlation between all the noninvasive techniques and invasive ICP (ONSD, r = 0.29; PI, r = 0.62; CT, r = 0.21; P2/P1 ratio, r = 0.35; TTP, r = 0.35, p < 0.001 for all comparisons). The area under the curve (AUC) to estimate intracranial hypertension was 0.69 [CIs = 0.62-0.78] for the ONSD, 0.75 [95% CIs 0.69-0.83] for the PI, 0.64 [95%Cis 0.59-069] for CT, 0.79 [95% CIs 0.72-0.93] for P2/P1 ratio, and 0.69 [95% CIs 0.60-0.74] for TTP. When the various techniques were combined, an AUC of 0.86 [0.76-0.93]) was obtained. The best pair of methods was the TCD and B4cth an AUC of 0.80 (0.72-0.88). Noninvasive technique measurements correlate with ICP and have an acceptable discrimination ability in diagnosing ICH. The multimodal combination of PI (TCD) and wave morphology monitor may improve the ability of the noninvasive methods to diagnose ICH. The observed variability in non-invasive ICP estimations underscores the need for comprehensive investigations to elucidate the optimal method-application alignment across distinct clinical scenarios.
Topics: Adult; Humans; Middle Aged; Aged; Intracranial Pressure; Sensitivity and Specificity; Optic Nerve; Ultrasonography, Doppler, Transcranial; Intracranial Hypertension; Subarachnoid Hemorrhage; Ischemic Stroke; Ultrasonography
PubMed: 37891406
DOI: 10.1038/s41598-023-45834-5 -
Academic Radiology Oct 2023This study aimed to investigate the reliability and accuracy of high-resolution ultrasonography (US) for diagnosing periapical lesions and differentiating radicular...
RATIONALE AND OBJECTIVES
This study aimed to investigate the reliability and accuracy of high-resolution ultrasonography (US) for diagnosing periapical lesions and differentiating radicular cysts from granulomas.
MATERIALS AND METHODS
This study included 109 teeth with periapical lesions of endodontic origin from 109 patients scheduled for apical microsurgery. Ultrasonic outcomes were analyzed and categorized after thorough clinical and radiographic examinations using US. B-mode US images reflected the echotexture, echogenicity, and lesion margin, while color Doppler US assessed the presence and features of blood flow of interested areas. Pathological tissue samples were obtained during apical microsurgery and subjected to histopathological examination. Fleiss' κ was used to measure interobserver reliability. Statistical analyses were performed to assess the diagnostic validity and the overall agreement between US and histological findings. The reliability of US compared to histopathological examinations was assessed based on Cohen's κ.
RESULTS
The percent accuracy of US for diagnosing cysts, granulomas, and cysts with infection based on histopathological findings was 89.9%, 89.0%, and 97.2%, respectively. The sensitivity of US diagnoses was 95.1% for cysts, 84.1% for granulomas, and 80.0% for cysts with infection. The specificity of US diagnoses was 86.8% for cysts, 95.7% for granulomas, and 98.1% for cysts with infection. The reliability for US compared to histopathological examinations was good (κ = 0.779).
CONCLUSION
The echotexture characteristics of lesions in US images correlated with their histopathological features. US can provide accurate information on the nature of periapical lesions based on the echotexture of their contents and the presence of vascularity. It can help improve clinical diagnosis and avoid overtreatment of patients with apical periodontitis.
Topics: Humans; Radicular Cyst; Periapical Granuloma; Reproducibility of Results; Granuloma; Ultrasonography
PubMed: 37394410
DOI: 10.1016/j.acra.2023.05.039 -
European Radiology Nov 2023To investigate the role of MRI in the diagnosis and classification of fetal microtia.
OBJECTIVE
To investigate the role of MRI in the diagnosis and classification of fetal microtia.
METHODS
Ninety-five fetuses with suspected microtia based on ultrasound and MRI performed within 1 week were enrolled in this study. The diagnosis based on MRI was compared with postnatal diagnosis. Among the microtia cases suspected on the basis of MRI, mild and severe cases were further classified. In addition, external auditory canal (EAC) atresia was evaluated by MRI in 29 fetuses with a gestational age > 28 weeks, and the accuracy of MRI in the diagnosis and classification of microtia was determined.
RESULTS
Of 95 fetuses, 83 were considered to have microtia on the basis of MRI, 81 were confirmed to have microtia, and 14 were found to be normal according to postnatal diagnosis. Among 190 external ears in 95 fetuses, 40 ears were suspected to have mild microtia, and 52 ears were suspected to have severe microtia on the basis of MRI. According to the postnatal diagnosis, mild and severe microtia were confirmed in 43 and 49 ears, respectively. Among the 29 fetuses with a gestational age > 28 weeks, 23 ears were suspected to have EAC atresia according to MRI and 21 ears were ultimately confirmed to have EAC atresia. The accuracy of MRI in diagnosing microtia and EAC atresia was 93.68% and 93.10%, respectively.
CONCLUSION
MRI shows good performance in diagnosing fetal microtia and has the potential to evaluate its severity on the basis of classification and EAC status.
CLINICAL RELEVANCE STATEMENT
This study was aimed at investigating the role of MRI in the diagnosis and classification of fetal microtia. MRI shows good performance and can help evaluate microtia severity and EAC atresia, thus allowing for better clinical management.
KEY POINTS
• MRI is a useful adjunct to prenatal ultrasound. • MRI has a higher accuracy rate than ultrasound in diagnosing fetal microtia. • The accurate classification of fetal microtia and the diagnosis of external auditory canal atresia through MRI may help guide clinical management.
Topics: Pregnancy; Female; Humans; Infant; Congenital Microtia; Ear, External; Prenatal Diagnosis; Fetus; Magnetic Resonance Imaging; Ultrasonography, Prenatal; Retrospective Studies
PubMed: 37311804
DOI: 10.1007/s00330-023-09816-5 -
Scientific Reports Jul 2023We propose an interpretable and scalable model to predict likely diagnoses at an encounter based on past diagnoses and lab results. This model is intended to aid...
We propose an interpretable and scalable model to predict likely diagnoses at an encounter based on past diagnoses and lab results. This model is intended to aid physicians in their interaction with the electronic health records (EHR). To accomplish this, we retrospectively collected and de-identified EHR data of 2,701,522 patients at Stanford Healthcare over a time period from January 2008 to December 2016. A population-based sample of patients comprising 524,198 individuals (44% M, 56% F) with multiple encounters with at least one frequently occurring diagnosis codes were chosen. A calibrated model was developed to predict ICD-10 diagnosis codes at an encounter based on the past diagnoses and lab results, using a binary relevance based multi-label modeling strategy. Logistic regression and random forests were tested as the base classifier, and several time windows were tested for aggregating the past diagnoses and labs. This modeling approach was compared to a recurrent neural network based deep learning method. The best model used random forest as the base classifier and integrated demographic features, diagnosis codes, and lab results. The best model was calibrated and its performance was comparable or better than existing methods in terms of various metrics, including a median AUROC of 0.904 (IQR [0.838, 0.954]) over 583 diseases. When predicting the first occurrence of a disease label for a patient, the median AUROC with the best model was 0.796 (IQR [0.737, 0.868]). Our modeling approach performed comparably as the tested deep learning method, outperforming it in terms of AUROC (p < 0.001) but underperforming in terms of AUPRC (p < 0.001). Interpreting the model showed that the model uses meaningful features and highlights many interesting associations among diagnoses and lab results. We conclude that the multi-label model performs comparably with RNN based deep learning model while offering simplicity and potentially superior interpretability. While the model was trained and validated on data obtained from a single institution, its simplicity, interpretability and performance makes it a promising candidate for deployment.
Topics: Humans; Electronic Health Records; Retrospective Studies; Forecasting; Neural Networks, Computer; Logistic Models
PubMed: 37419945
DOI: 10.1038/s41598-023-38257-9 -
BMC Pulmonary Medicine Dec 2023Transbronchial lung forceps biopsy (TBFB) is recommended before a surgical lung biopsy (SLB) when a definitive diagnosis of lymphangioleiomyomatosis (LAM) is required...
BACKGROUND
Transbronchial lung forceps biopsy (TBFB) is recommended before a surgical lung biopsy (SLB) when a definitive diagnosis of lymphangioleiomyomatosis (LAM) is required for patients without any additional confirmatory features. Transbronchial lung cryobiopsy (TBCB) has been suggested as replacement test in patients considered eligible to undergo SLB for the diagnosis of interstitial lung diseases. The efficacy and safety of TBCB were compared with that of TBFB and SLB in the diagnosis of LAM.
METHODS
A retrospective analysis was conducted on 207 consecutive patients suspected with LAM in the First Affiliated Hospital of Guangzhou Medical University from 2005 to 2020.
RESULTS
The difference in diagnostic rate of patients suspected with LAM between TBCB (20/30, 66.7%) and TBFB (70/106, 66.0%) groups was not significant (p = 0.949). One patient performed TBCB with negative pathological results could be diagnosed exclusively after SLB. LAM diagnosis was confirmed by surgical pathological findings in 3 TBFB-negative patients. More patients with minimal cystic profusion were diagnosed with LAM by TBCB (5/19, 26.3%) and SLB (11/39, 28.2%) than by TBFB (3/61, 4.9%) (TBCB vs TBFB: p = 0.04, SLB vs TBFB, p < 0.001). The difference between the severity of cystic lung disease in patients diagnosed with LAM through TBCB and SLB was not significant (p > 0.05). One pneumothorax, 8 mild bleeding and 1 moderate bleeding were observed in TBCB. One pneumothorax, 15 mild bleeding and 1 moderate bleeding occurred after TBFB.
CONCLUSION
Compared to TBFB, TBCB is safe and effective in diagnosing LAM at a higher diagnostic rate in patients with minimal cystic profusion.
Topics: Humans; Lymphangioleiomyomatosis; Pneumothorax; Retrospective Studies; Bronchoscopy; Lung; Lung Diseases, Interstitial; Biopsy; Surgical Instruments; Hemorrhage
PubMed: 38102590
DOI: 10.1186/s12890-023-02810-z -
Stroke Nov 2023Right to left shunt (RLS), including patent foramen ovale, is a recognized risk factor for stroke. RLS/patent foramen ovale diagnosis is made by transthoracic... (Clinical Trial)
Clinical Trial
BACKGROUND
Right to left shunt (RLS), including patent foramen ovale, is a recognized risk factor for stroke. RLS/patent foramen ovale diagnosis is made by transthoracic echocardiography (TTE), which is insensitive, transesophageal echocardiography, which is invasive, and transcranial Doppler (TCD), which is noninvasive and accurate but scarce.
METHODS
We conducted a prospective, single-arm device clinical trial of robot-assisted TCD (raTCD) versus TTE for RLS diagnosis at 6 clinical sites in patients who presented with an event suspicious for embolic cerebrovascular ischemia from October 6, 2020 to October 20, 2021. raTCD was performed with standard TCD bubble study technique. TTE bubble study was performed per local standards. The primary outcome was rate of RLS detection by raTCD versus TTE.
RESULTS
A total of 154 patients were enrolled, 129 evaluable (intent to scan) and 121 subjects had complete data per protocol. In the intent to scan cohort, mean age was 60±15 years, 47% were women, and all qualifying events were diagnosed as ischemic stroke or transient ischemic attack. raTCD was positive for RLS in 82 subjects (64%) and TTE was positive in 26 (20%; absolute difference 43.4% [95% CI, 35.2%-52.0%]; <0.001). On prespecified secondary analysis, large RLS was detected by raTCD in 35 subjects (27%) versus 13 (10%) by TTE (absolute difference 17.0% [95% CI, 11.5%-24.5%]; <0.001). There were no serious adverse events.
CONCLUSIONS
raTCD was safe and ≈3 times more likely to diagnose RLS than TTE. TTE completely missed or underdiagnosed two thirds of large shunts diagnosed by raTCD. The raTCD device, used by health professionals with no prior TCD training, may allow providers to achieve the known sensitivity of TCD for RLS and patent foramen ovale detection without the need for an experienced operator to perform the test. Pending confirmatory studies, TCD appears to be the superior screen for RLS compared with TTE (funded by NeuraSignal).
REGISTRATION
URL: https://www.
CLINICALTRIALS
gov; Unique identifier: NCT04604015.
Topics: Aged; Female; Humans; Male; Middle Aged; Echocardiography; Echocardiography, Transesophageal; Foramen Ovale, Patent; Prospective Studies; Robotics; Stroke; Ultrasonography, Doppler, Transcranial
PubMed: 37795589
DOI: 10.1161/STROKEAHA.123.043380