Diagnostic Rate Research Articles

Clinical value of oral contrast-enhanced ultrasonography in diagnosis of gastric tumors.

The incidence of gastric cancer remains high, and it is the sixth most common cancer and the fourth leading cause of cancer deaths worldwide. Oral contrast-enhanced ultrasonography is a simple, non-invasive, and painless method for the diagnosis of gastric tumors. To explore the diagnostic value of oral contrast-enhanced ultrasonography for the detection of gastric tumors. The screening results based on oral contrast-enhanced ultrasonography and electronic gastroscopy were compared with those of the postoperative pathological examination. Among 42 patients with gastric tumors enrolled in the study, the diagnostic accordance rate was 95.2% for oral contrast-enhanced ultrasonography (n = 40) and 90.5% for electronic gastroscopy (n = 38) compared with postoperative pathological examination. The Kappa value of consistency test with pathological findings was 0.812 for oral contrast-enhanced ultrasonography and 0.718 for electronic gastroscopy, and there was no significant difference between them (P = 0.397). For the TNM staging of gastric tumors, the accuracy rate of oral contrast-enhanced ultrasonography was 81.9% for the overall T staging and 50%, 77.8%, 100%, and 100% for T1, T2, T3, and T4 staging, respectively. The sensitivity and specificity were both 100% for stages T3 and T4. The diagnostic accuracy rate of oral contrast-enhanced ultrasonography was 93.8%, 80%, 100%, and 100% for stages N0, N1-N3, M0, and M1, respectively. The accordance rate of qualitative diagnosis by oral contrast-enhanced ultrasonography is comparable to that of gastroscopy, and it could be used as the preferred method for the early screening of gastric tumors.

Urinary Tract Infections (UTIs): Laboratory diagnosis - The role of artificial intelligence and smart diagnosis

Background: Urinary tract infections (UTIs) are prevalent outpatient conditions affecting up to 50% of individuals, with diagnostic errors common in clinical settings. The traditional reliance on clinical criteria alone yields a diagnostic error rate of about 33%, necessitating improved diagnostic methods. Aim: This mini-review evaluates the role of artificial intelligence (AI) and smart diagnostic tools in enhancing UTI diagnosis, particularly within vulnerable populations. Methods: A comprehensive literature review was conducted, assessing 782 articles, of which 14 met the inclusion criteria for AI applications in UTI diagnosis. These studies were categorized based on their focus: uncomplicated UTIs, complicated UTIs, and specific demographic groups. Results: The review revealed that 12 studies employed machine learning techniques while 2 utilized deep learning. The most frequently used models included artificial neural networks (ANNs) and extreme gradient boosting (XGBoost). Key variables influencing predictive models encompassed demographic data, anamnesis, and comorbidities. Notably, models for diagnosing uncomplicated UTIs achieved accuracy rates of up to 98.3%, while approaches for complicated UTIs demonstrated area under the curve (AUC) values ranging from 0.71 to 0.904. AI models were particularly effective in stratifying high-risk subgroups, including pregnant women and children, with models achieving AUCs of 0.82 and 0.83 for specific populations.

Use of the ETV6/RUNX1 probe to verify the performance of the fluorescence in situ hybridization probe before clinical detection

Objective: To explore the standardized performance of a FISH probe before clinical detection. Methods: The probe sensitivity and specificity of ETV6/RUNX1 were analyzed via interphase and metaphase FISH in 20 discarded healthy bone marrow samples. The threshold system of the probe was established using an inverse beta distribution, and an interpretation standard was established. Finally, a parallel-controlled polymerase chain reaction detection study was conducted on 286 bone marrow samples from patients at our hospital. The clinical sensitivity, specificity, and diagnostic coincidence rate of ETV6/RUNX1 FISH detection were analyzed, and the diagnostic consistency of the two methods was analyzed by the kappa test. Results: The probe sensitivity and specificity of the ETV6/RUNX1 probe were 98.47% and 100%, respectively. When 50, 100, and 200 cells were counted, the typical positive signal pattern cutoffs were 5.81%, 2.95%, and 1.49%, respectively, and the atypical positive signal pattern cutoffs were 13.98%, 9.75%, and 6.26%, respectively. The clinical sensitivity of FISH was 96.1%, clinical specificity was 99.6%, diagnostic coincidence rate was 99.00%, diagnostic consistency test kappa value was 0.964, and P value was <0.001. Conclusion: For FISH probes without a national medical device registration certificate, standardized performance verification and methodology performance verification can be performed using laboratory developed test verification standards to ensure a reliable and accurate reference basis for clinical diagnosis and treatment.

18F-FDG PET/CT anatomic and metabolic guidance in CT-guided lung biopsies

PurposeTo evaluate the role of Fluorine-18 fluorodeoxyglucose (18F-FDG) PET/CT as a metabolic guide in increasing the accuracy, diagnostic yield and safety of CT-guided percutaneous needle lung biopsy (PNB). Methods and MaterialsRetrospective analysis of 340 consecutive patients with suspicious lung nodules, masses or extensive disease that underwent lung biopsy over a 3-year period. Patients were divided into three groups; those that had PET/CT prior to the biopsy, those that had PET-CT following the biopsy and those who did not undergo PET-CT. Correlation was made with the histopathological result. Results353 PNBs were performed (median lesion size 30 mm, 7–120 mm) with overall diagnostic rate of 83.9 % (95.8 % malignant). Biopsy success rate was 88.8 % with PET-CT pre-PNB, versus 78.9 % of 175 PNB without PET-CT upfront (p < 0.01 Fisher exact test). Correct targeting to PET-CT-maximum activity area (MAA) was present in 87.1 %. Biopsy success rate was 88.8 % for PNBs targeting the PET-CT-MAA region and only 52.8 % for PNBs not targeting the PET-CT-MAA (p < 0.0001). PET-CT pre-PNB had higher rates of PET-CT-MAA targeting compared to PET-CT post PNB (91.0 % v 80.0 %, p = 0.01). The availability of PET-CT before the PNB lead to significantly increased biopsy success rates in patients with a mass (OR:7.01p = 0.004), compared to a nodule (p = 0.498) or multiple nodules (p = 0.163). Patients with a PET-CT pre-PNB underwent fewer PNB passes (mean 2.6 v 3.1, p < 0.0001 Mann Whitney U). Serious complications were less common in PET-CT pre-PNB group (4.5 % v 10.9 %, p < 0.05). Pre-PNB PET-CT performance improvement applied to all 3 radiologists and was greatest for masses and infiltrative abnormalities. ConclusionMetabolic information provided by 18F-FDG PET/CT and PNB localisation to the PET-CT maximum activity region is associated with higher diagnostic biopsy rates especially in masses and appears to account for improved performance, less needle passes and complications when available pre-biopsy.

X-ray, digital tomographic fusion, CT, and MRI in early ischemic necrosis of the femoral head.

To investigate the imaging performance of radiography, digital tomographic fusion (DTS), computed tomography (CT), and magnetic resonance imaging (MRI) in the diagnosis of early avascular necrosis of the femoral head (ANFH). A total of 220 patients with ANFH who visited our hospital from January 2020 to January 2022 were included in the study. X-ray, DTS, CT, and MRI examinations of both hips were performed for all patients. The trabecular structure, bone density changes, femoral head morphology, and joint space changes were observed using the aforementioned imaging modalities. The staging was performed according to the Association Research Circulation Osseous (ARCO) criteria. The diagnostic detection rate of each imaging modality, and the sensitivity, specificity, positive predictive value, and negative predictive value of each examination for diagnosing early ANFH were calculated and compared. Patients were diagnosed with stage I (n = 65), stage II (n = 85), stage III (n = 32), and stage IV (n = 38) ANFH. For MRI, the detection rate (97.7%), sensitivity (94.7%), specificity (88.6%), positive predictive value (95.9%), and negative predictive value (92.5%), for diagnosing early ANFH, were significantly higher than those of other imaging methods (P < .05). MRI is the most accurate and sensitive imaging method for diagnosing early ANFH and has important clinical applications.

Deep Learning-based Glaucoma Detection Using CNN and Digital Fundus Images: A Promising Approach for Precise Diagnosis.

Glaucoma is a significant cause of irreversible blindness worldwide, with symptoms often going undetected until the patient's visual field starts shrinking. To develop an AI-based glaucoma detection method to reduce glaucoma-related blindness and offer more precise diagnosis. Discusses various methods and technologies, including Heidelberg Retinal Tomography (HRT), Optical Coherence Tomography (OCT), and Fundus Photography, for obtaining relevant information about the presence of glaucoma in a patient. Additionally, it mentions the use of Support Vector Machines (SVMs) and Convolutional Neural Networks (CNNs) for glaucoma detection. There are many limitations for existing methods as; Asymptomatic Progression, reliance on subjective feedback, multiple tests required, late detection, limited availability of preventive tests, influence of external factors. Findings reveal promising outcomes in terms of glaucoma detection accuracy, particularly in the analysis of the RIM-ONE-r3 dataset. By scrutinizing 20 images from the Healthy, Glaucoma, and Suspects categories through fundus image recognition, our developed AI model consistently achieved high diagnostic accuracy rates. Conclusion Our study suggests that further enhancements in glaucoma detection accuracy are attainable by augmenting the dataset with additional labeled images. We emphasize the significance of considering various application parameters when discussing the integration of computer-aided decision/management systems into healthcare frameworks.

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada

PurposeTo determine real-world diagnostic rates, cost trajectories, and cost-effectiveness of exome sequencing (ES) and genome sequencing (GS) for children with developmental and/or seizure disorders in British Columbia, Canada. MethodsBased on medical records review, we estimated real-world costs and outcomes for 491 patients who underwent standard of care (SOC) diagnostic testing at British Columbia Children’s Hospital. Results informed a state-transition Markov model examining cost-effectiveness of 3 competing diagnostic strategies: (1) SOC with last-tier access to ES, (2) streamlined ES access, and (3) first-tier GS. ResultsThrough SOC, 49.4% (95% CI: 40.6, 58.2) of patients were diagnosed at an average cost of C$11,683 per patient (95% CI: 9200, 14,166). Compared with SOC, earlier ES or GS access yielded similar or improved diagnostic rates and shorter times to genetic diagnosis, with 94% of simulations demonstrating cost savings for streamlined ES and 60% for first-tier GS. Net benefit from the perspective of the health care system was C$2956 (95% CI: −608, 6519) for streamlined ES compared with SOC. ConclusionUsing real-world data, we found earlier access to ES may yield more rapid genetic diagnosis of childhood developmental and seizure disorders and cost savings compared with current practice in a Canadian health care system.

Diagnostic capabilities of ChatGPT in ophthalmology.

The purpose of this study is to assess the diagnostic accuracy of ChatGPT in the field of ophthalmology. This is a retrospective cohort study conducted in one academic tertiary medical center. We reviewed data of patients admitted to the ophthalmology department from 06/2022 to 01/2023. We then created two clinical cases for each patient. The first case is according to the medical history alone (Hx). The second case includes an addition of the clinical examination (Hx and Ex). For each case, we asked for the three most likely diagnoses from ChatGPT, residents, and attendings. Then, we compared the accuracy rates (at least one correct diagnosis) of all groups. Additionally, we evaluated the total duration for completing the assignment between the groups. ChatGPT, residents, and attendings evaluated 126 cases from 63 patients (history only or history and exam findings for each patient). ChatGPT achieved a significantly lower accurate diagnosis rate (54%) in the Hx, as compared to the residents (75%; p < 0.01) and attendings (71%; p < 0.01). After adding the clinical examination findings, the diagnosis rate of ChatGPT was 68%, whereas for the residents and the attendings, it increased to 94% (p < 0.01) and 86% (p < 0.01), respectively. ChatGPT was 4 to 5 times faster than the attendings and residents. ChatGPT showed low diagnostic rates in ophthalmology cases compared to residents and attendings based on patient history alone or with additional clinical examination findings. However, ChatGPT completed the task faster than the physicians.

Are the diagnostic rates of autistic females increasing? An examination of state-wide trends.

Autism has been considered a 'male-dominant' condition. However, recent research suggests that autistic females are underdiagnosed, misdiagnosed, and later diagnosed. Females may also have different and more nuanced behavioral profiles. To examine diagnosis rates of females, we used 20 years of state-wide data to characterize historical trends in the diagnosis of autism in females to determine whether the proportion of females diagnosed with autism has changed over time. Data were drawn from 10,247 participants (males = 8,319, females = 1928) who received an autism diagnosis between 2000 and 2021 from state-wide autism centers associated with the University of North Carolina TEACCH Autism Program. The rates of females diagnosed with autism increased at a greater rate compared with males. Age of diagnosis remained consistently higher for females. Late diagnosis (defined as 13+) increased over time across both males and females, however, was more commonly associated with females, particularly those with co-occurring intellectual disability. Our results indicate that the proportion of females diagnosed with autism has increased steadily over a 20-year period, which likely reflects greater societal knowledge of how autism may manifest differentially in females.

AMIGO2 is a pivotal therapeutic target related to M2 polarization of macrophages in pancreatic ductal adenocarcinoma.

Pancreatic ductal adenocarcinoma (PDAC) is a common kind of lethal cancer, with low early diagnostic rate and poor prognosis. In this study, we identified and verified the AMIGO2 with significant diagnostic and prognostic value in PDAC through LASSO regression combined with multiple machines learning methods, including RVM-RFE and Random Forest in TCGA and GEO datasets. The relevance between the expression of AMIGO2 and M2 polarization of macrophages was identified through pancancer, normal tissue, and cell lines data in TCGA, GTEx and CCLE datasets. The relevance between AMIGO2 and M2 polarization was then further identified in our local PDAC cohort. Finally, the role of AMIGO2 as cancer promoter and pivotal factor enrolled in M2 polarization was verified through siRNA transfection and M2 macrophages induction. These findings could facilitate diagnosis and treatment of PDAC. In addition, further research was deemed necessary on the deep mechanism between AMIGO2 and M2 polarization of macrophages in PDAC.

Risk factors for symptomatic rotator cuff tears: a retrospective case-control study.

The incidence and diagnostic rate of rotator cuff tears (RCTs) have increased significantly. The purpose of this study was to investigate and analyze the risk factors for symptomatic RCTs to provide a basis for their prevention and treatment. We retrospectively analyzed the relevant clinical indicators of 193 randomized clinical trial (RCT) patients and 161 non-RCT patients hospitalized with shoulder pain as the main complaint from January 1, 2017, to August 31, 2021. Univariate analysis and multivariate logistic regression analysis were used to analyze the differences in potential risk factors between the two groups. Univariate analysis revealed that age (p < 0.001), body mass index (BMI) (p = 0.036), hypertension (p < 0.001), coronary heart disease (p = 0.028), history of shoulder trauma (p < 0.001), hyperlipidemia (p = 0.025), type III acromion (p = 0.012) and critical shoulder angle (CSA) (p < 0.001) increased the risk of RCTs. Multivariate logistic regression analysis revealed that age ≥ 60 years (OR = 2.61, 95% CI = 1.23 to 5.12), CSA ≥ 35° (OR = 4.24, 95% CI = 1.60 to 11.22), hypertension (OR = 2.34, 95% CI = 1.33 to 4.11) and history of shoulder trauma (OR = 5.20, 95% CI = 2.87 to 9.45) were independent risk factors for symptomatic RCTs. The results of this study showed that age ≥ 60 years, CSA ≥35°, hypertension and history of shoulder trauma are independent risk factors for symptomatic RCTs and can provide directions for further development of prevention and treatment strategies. Future studies need to clarify the mechanism underlying the association between these risk factors and symptomatic RCTs.

A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.

Mendelian disorders of the epigenetic machinery (MDEMs) are caused by genetic mutations, a considerable fraction of which are associated with epigenetic modification. These MDEMs exhibit phenotypic overlap broadly characterized by multiorgan abnormalities. The variant detected in genes associated with epigenetic modification can lead to short stature accompanied with multiple system abnormalities. This study is aimed at presenting and summarizing the diagnostic rate, clinical, and genetic profile of MDEMs-associated short stature. Two hundred and fourteen short-stature patients with multiorgan abnormalities were enrolled. Clinical information and whole exome sequence (WES) were analyzed for these patients. WES identified 33 pathogenic/likely pathogenic variants in 19 epigenetic modulation genes (KMT2A, KMT2D, KDM6A, SETD5, KDM5C, HUWE1, UBE2A, NIPBL, SMC1A, RAD21, CREBBP, CUL4B, BPTF, ANKRD11, CHD7, SRCAP, CTCF, MECP2, UBE3A) in 33 patients (15.4%). Of note, 19 variants had never been reported previously. Furthermore, these 33 variants were associated with 16 different disorders with overlapping clinical features characterized by development delay/intelligence disability (31/33; 93.9%), small hands (14/33; 42.4%), clinodactyly of the 5th finger (14/33; 42.4%), long eyelashes (13/33; 39.4%), and hearing impairment (9/33; 27.3%). Additionally, several associated phenotypes are reported for the first time: clubbing with KMT2A variant, webbed neck with SETD5 variant, retinal detachment with CREBBP variant, sparse lateral eyebrow with HUWE1 variant, and long palpebral fissure with eversion of the lateral third of the low eyelid with SRCAP variant.Conclusions: Our study provided a new conceptual framework for further understanding short stature. Specific clinical findings may indicate that a short-stature patient may have an epigenetic modified gene variant.

Metabolic causes of pediatric developmental & epileptic encephalopathies (DEE)- genetic variant analysis in a south Indian cohort

PurposeDrug-resistant epilepsy is seen in patients with inborn errors of metabolism and metabolic dysfunction in neurons is crucial to brain disorders associated with psychomotor impairment. Diagnostic rates of metabolic causes of developmental and epileptic encephalopathy (DEE) using next generation sequencing have been rarely studied in literature. MethodsA prospective hospital study was carried out in 384 children with DEE, who underwent genetic testing. Metabolic disorders were evaluated with biochemical blood/urine assays and when required CSF estimations performed. ResultsA total of 154 pathogenic/likely pathogenic variants in 384 children were identified. Out of 384 children, 89 were clinically suspected to have probable or possible metabolic disorders. Pathogenic/likely pathogenic variants in metabolic genes were identified in 39 out of 89 (43.8 %) and promising VUS in 28 (31.4 %). These included variants for progressive myoclonus epilepsies (21; 53.8 %), DEE with focal/multifocal seizures (8; 20.5 %), generalized epilepsy (5;12.8 %), early myoclonic encephalopathy (2; 5.1 %), LGS (1; 2.6 %) and West syndrome (2; 5.1 %). ConclusionOur cohort demonstrates for the first time from the Indian subcontinent that identification of metabolic variants can guide investigations and has therapeutic implications in patients with variable DEE phenotypes. A high utility is noted with regard to diagnosis and prognostication, given the low yield of available biochemical tests, indicating cost-effectiveness of this approach.

Effects of Serum Antibody Test Reagent Discontinuation on Diagnosis of Amebiasis in Japan: Interrupted Time-Series Analysis.

Amebiasis is a notifiable infectious disease in Japan, and the number of reported cases had been on the rise, but since the discontinuation of insurance-covered serum antibody testing reagent in 2017, concerns have arisen regarding the decrease in reported cases. This study aimed to investigate changes occurring after discontinuation of the serum antibody test reagent production. We retrospectively analyzed amebiasis cases from January 2014 to December 2019 using the National Center for Epidemiology of Infectious Diseases system. Interrupted time-series regression analysis was used to evaluate trends in weekly amebiasis cases before and after the discontinuation period. The study period was divided into prediscontinuation (2014-2017) and discontinuation (2018-2019) periods. A total of 6,179 amebiasis cases were reported. The average numbers of weekly cases were 21.5 during 2014-2017 and 16.3 during 2018-2019. The frequency of diagnoses decreased in the discontinuation period (prevalence rate ratio = 0.78; 95% CI, 0.67-0.89; P < 0.01). Subgroup analysis showed lower diagnostic rates, particularly for extraintestinal amebiasis (prevalence rate ratio = 0.37; 95% CI, 0.22-0.55; P < 0.01). We observed a significant decrease in the number of reported amebiasis cases per week after discontinuation of the serum antibody test reagent in Japan. Our findings hold significance for both public health policy and practice in Japan, underscoring the requirement for enhanced amebiasis diagnostic tools and strategies. To ensure accurate diagnosis, availability of antibody reagents for serum testing, covered by insurance, should be encouraged.

Application of contrast-enhanced ultrasound in the diagnosis of tuberous vas deferens tuberculosis.

To assess the value of contrast-enhanced ultrasound (CEUS) in the diagnosis of tuberous vas deferens tuberculosis (VD TB) and improve the positive diagnostic rate of VD TB. CEUS and routine ultrasound (US) images of 17 patients with tuberous VD TB confirmed by surgery, pathology, or laboratory semen examination were retrospectively analyzed and summarized, and the positive rates of both imaging techniques were compared. The 19 VD lesions of the 17 patients were divided into two types according to the CEUS findings: Type I and Type II, and type II was divided into Types IIa, IIb, and IIc. Of the nodules with transverse diameters > 1cm, 100% presented as type II. Of the nodules with transverse diameters < 1cm, 37.5% (3/8) presented as type I and 62.5% (5/8) presented as type II. The sonographic manifestations of tuberous VD TB were hypoechoic and mixed echoic. The positive diagnostic rate was 89.5% for CEUS and 68.4% for US, but the difference was not significant (χ2 = 2.533; P = 0.111). CEUS was able to show the blood supply characteristics of tuberous VD TB, the internal necrosis of nodules was more easily observed by CEUS than by routine US, which is helpful for the diagnosis of tuberous VD TB.

The use of high-resolution SNP arrays to detect congenital cardiac defects

Objective Copy number variations (CNVs) detected by high-resolution single nucleotide polymorphism microarrays (SNP arrays) have been associated with congenital heart defects (CHDs). The genetic mechanism underlying the development of CHDs remains unclear. Methods High-resolution SNP arrays were used to detect CNVs and traditional chromosomal analyses, respectively, were carried out on 60 and 249 fetuses from gestational 12–37 weeks old, having isolated or complex CHDs that were diagnosed using prenatal ultrasound. Results Twenty of the 60 fetuses (33.5%) had abnormalities, of which 23 CNVs (12 pathogenic, five probable pathogenic and six of undetermined significance) were detected by SNP arrays, and two distinct CNVs were present in three of these fetuses. In addition, in 39 patients with isolated congenital heart disease who had normal karyotypes, abnormal CNVs were present in 28.2% (11/39), and in patients with complex coronary artery disease, 19.0% (4/21) had abnormal karyotypes and 42.9% (9/21) had abnormal CNVs. In patients with complex coronary artery disease, 19.0% (4/21) had abnormal karyotypes and 42.9% (9/21) had abnormal CNVs. Conclusions In conclusion, genome-wide high-resolution SNP array can improve the diagnostic rate and uncover additional pathogenic CNVs. The submicroscopic deletions and duplications of Online Mendelian Inheritance in Man (OMIM) genes found in this study have haploinsufficient (deletion) or triplosensitive (duplication) traits, which further clarify the etiology and inheritance of CHDs.

PET/CT-aided biopsy of lung lesions enhances diagnostic efficacy, especially for lesions >3cm.

The purpose of this study was to compare the diagnostic efficacy of PET/CT-aided CT-guided and routine CT-guided transthoracic needle biopsy for lung lesions. A total of 458 patients with suspicious lung lesions were referred for CT-guided biopsy, with 227 patients assigned to the PET/CT group and 231 patients assigned to the CT group. The clinical characteristics and diagnostic yield were compared between the two groups. Furthermore, conducting subgroup analysis to evaluate the differences of diagnostic success or failure between the two groups. The sensitivity and diagnostic accuracy rate differed significantly (P = 0.035, P = 0.048). In the PET/CT group, the values were 95.7% and 96.3%, respectively, while in the CT group, they were 90.1% and 91.9%. When considering non-diagnostic cases, the overall diagnostic success rate increased markedly in PET/CT group (93.0% vs. 83.1%, P = 0.001). In our subgroup analysis, the PET/CT group demonstrated superiority in detecting lesions larger than 3 cm (OR, 4.81; 95CI%, 2.03 - 11.36), while showing a moderate effect in lesions smaller than 3 cm (OR, 1.09; 95CI%, 0.42 - 2.81). Significant effect modification was observed in large lesions in the PET/CT group (P for interaction = 0.023). 18F-FDG-PET/CT enhances the diagnostic efficacy of CT-guided transthoracic needle biopsy for lung lesions, and the incremental value can be modified by lesion size, particularly when the diameter is larger than 3 cm.

Diagnosis and differentiation of Kaposiform hemangioendothelioma based on ultrasound radiomics.

Kaposiform hemangioendothelioma (KHE) is a rare neoplasm of the newborn, but has a very high mortality rate. In this study, we explore the application value of ultrasound radiomics in the differential diagnosis of KHE so as to provide reference for early diagnosis of KHE. We selected 194 cases of children with suspected KHE admitted to Henan Provincial People's Hospital from March 2016 to April 2024 for this retrospective analysis. All children completed ultrasound examinations in our hospital. After pathological biopsy, 132 cases were diagnosed with KHE. Taking pathological biopsy as the gold standard, the diagnostic rate of ultrasound examination was determined. Our results showed that ultrasound examination diagnosed 124 cases with KHE. Compared with pathological biopsy, the diagnostic sensitivity, specificity, and accuracy of ultrasound were 81.82, 77.42, and 80.41%, respectively (Kappa = 0.725). Most of the children had a single lesion, often involving the skin. The tumor was hard in texture and red or purple in color and did not fade when pressed. The two-dimensional sonogram showed a solid heterogeneous echo mass in the soft tissue. The lesion was generally large, irregular in shape, and unclear in boundaries, extending to the adipose layer and forming a "tree root-like" change. Microscopically, crossed spindle-shaped cell bundles could be seen, showing diffuse multinodular infiltrative growth. Children with the Kasabach-Merritt phenomenon (KMP) generally had larger lesions. Subsequently, the children with KHE were assigned to a training set and a validation set in a ratio of 7:3. High-throughput data acquisition of the regions of interest (ROIs) on the ultrasound images was carried out to construct a KEH prediction model based on ultrasound radiomics, and validation analysis was conducted. We found the diagnostic accuracy rate of ultrasound radiomics was 91.41%, the sensitivity was 77.44%, and the specificity was 97.21%, which were better than those of the conventional ultrasound. In conclusion, ultrasound radiomics analysis is highly effective in the diagnosis of KHE, which can contribute to the early diagnosis rate of KHE.

Newborn screening for primary carnitine deficiency using a second-tier genetic test.

Newborn screening (NBS) for primary carnitine deficiency (PCD) exhibits suboptimal performance. This study proposes a strategy to enhance the efficacy of second-tier genetic screening by adjusting the cutoff value for free carnitine (C0). Between January 2021 and December 2022, we screened 119,898 neonates for inborn metabolic disorders. Neonates with C0 levels below 12 μmol/L were randomly selected for second-tier genetic screening, employing a novel matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) assay. In total, 2,515 neonates with C0 <12 μmol/L underwent further screening, including 206 neonates with C0 <8.5 μmol/L and 320 neonates with 8.5<C0<12 μmol/L. Genetic screening identified positive results in 12.36 % (65) of neonates, with one being homozygous, 10 compound heterozygotes, and 54 heterozygotes. Sanger sequencing revealed a second SLC22A5 variant in three of the 54 neonates. Ultimately, 14 patients were diagnosed with PCD; all 14 patients exhibited low C0 levels, though two had normal C0 levels during the recall review. The MALDI-TOF MS assay demonstrated detection and diagnostic rates of 89.29 % and 78.57 %, respectively. Eleven distinct SLC22A5 variants were identified, with the most common variant being c.51C>G, accounting for 25 % (7/28) of allelic frequencies. A novel MALDI-TOF MS assay targeting 21 SLC22A5 variants in a Chinese population was successfully established. This assay exhibits a high detection and diagnostic rate, making it suitable for population-based genetic screening. Combined genetic screening is recommended to enhance the efficiency of PCD-NBS.

EBUS-TBLC increase the diagnosis rate in different type of peripheral pulmonary lesions.

Background and objective: Recently, endobronchial ultrasonography with guide sheath-guided (EBUS-GS) has been increasingly used in the diagnosis of peripheral pulmonary lesions (PPLs) from human natural orifice. However, the diagnostic rate is still largely dependent on the location of the lesion and the probe. Here, we reported a new procedure to improve the diagnostic rate of EBUS-transbronchial lung cryobiopsy (EBUS-TBLC), which performed under general anesthesia with laryngeal mask airway (LMA) in all of the patients. This study retrospectively evaluated the diagnosis of PPLs with 'blind-ending' type (Type I) and 'pass-through' type procedures (Type II) of EBUS-GS-TBLB or EBUS-TBLC respectively. Methods: Retrospective review of 136 cases performed by EBUS-GS-TBLB or EBUS-TBLC for PPLs over 2 years. Results: A total of 126 cases EBUS-GS-TBLB or EBUS-TBLC were performed during the study period. Among them, 66 (52.4%) were performed Type I and 60 (47.6%) were performed Type II. Clinical baseline characteristics did not differ between two groups. The overall diagnosis rate of 126 patients with EBUS-GS-TBLB or EBUS-TBLC was 73% (92/126), and different method type have significant influence on the diagnostic yield (P = 0.012, x2 = 4.699). Among them, diagnostic yields for Type I with forceps biopsy (n=34), Type I with cryobiopsy (n=32), Type II with forceps biopsy (n=30), and Type II with cryobiopsy (n=30) were 72.5%, 64.5%, 70.4% and 74.2% respectively (Figure 2A). The study further compared the outcomes of different procedures in concentric and eccentric lesion. Diagnostic yields for Type I with eccentric (n=30), Type I with concentric (n=36), Type II with eccentric (n=34), and Type II with concentric (n=26) were 58.2%, 76.9%, 60.2% and 74.8%, respectively (P < 0.05). The incidence of complications in 126 patients was 2.6%. Conclusion: EBUS-GS-TBLB and EBUS-TBLC both are very safe and highly diagnostic technique; different method types have significant influence on the diagnostic yield. Moreover, Type II procedure has higher diagnostic yield. In addition, Type I with eccentric had the lowest diagnosis yield.