Switching from eltrombopag to hetrombopag in patients with primary immune thrombocytopenia: a post-hoc analysis of a multicenter, randomized phase III trial.

While studies have explored the feasibility of switching between various thrombopoietin receptor agonists in treating immune thrombocytopenia (ITP), data on the switching from eltrombopag to hetrombopag remains scarce. This post-hoc analysis of a phase III hetrombopag trial aimed to assess the outcomes of ITP patients who switched from eltrombopag to hetrombopag. In the original phase III trial, patients initially randomized to the placebo group were switched to eltrombopag. Those who completed this 14-week eltrombopag were eligible to switch to a 24-week hetrombopag. Treatment response, defined as a platelet count of ≥ 50 × 109/L, and safety were evaluated before and after the switch. Sixty-three patients who completed the 14-week eltrombopag and switched to hetrombopag were included in this post-hoc analysis. Response rates before and after the switch were 66.7% and 88.9%, respectively. Among those with pre-switching platelet counts below 30 × 109/L, eight out of 12 patients (66.7%) responded, while eight out of nine patients (88.9%) with pre-switching platelet counts between 30 × 109/L and 50 × 109/L responded post-switching. Treatment-related adverse events were observed in 50.8% of patients during eltrombopag treatment and 38.1% during hetrombopag treatment. No severe adverse events were noted during hetrombopag treatment. Switching from eltrombopag to hetrombopag in ITP management appears to be effective and well-tolerated. Notably, hetrombopag yielded high response rates, even among patients who had previously shown limited response to eltrombopag. However, these observations need to be confirmed in future trials.

Whole exome sequencing improves genetic diagnosis of fetal clubfoot.

OBJECTIVE: This retrospective study aimed to investigate the value of whole exome sequencing (WES) for clubfoot (CF) fetuses with or without other structural abnormalities and to further explore the genetic causes of fetal CF. METHODS: this study included 83 singleton pregnancies diagnosed with fetal CF referred to our center between January 2016 and March 2022; cases were divided into two groups: isolated CF and non-isolated CF. After excluding cases with positive karyotyping and chromosomal microarray analysis results, WES was performed for the eligible fetuses and parents. Monogenic variants detected by WES and perinatal outcomes were recorded and evaluated at postnatal follow-up. RESULTS: overall, clinically significant variations were identified in 12.0% (10/83) of fetuses, and the detection rate was significantly higher in the non-isolated than in the isolated CF group (8/36, 22.2% vs. 2/47, 4.3%, p = 0.031). We additionally detected eight (9.6%) fetuses harboring variants of unknown significance. We identified 11 clinically significant variations correlating with clinical phenotypes in nine genes from ten fetuses, with KLHL40 being the most frequent (n = 2). Furthermore, we observed a significant difference in termination and survival rates between isolated and non-isolated CF cases (27.6 vs. 77.8% and 59.6 vs. 19.4%, p < 0.001 for both). CONCLUSION: our data indicate that WES has a high additional diagnostic yield for the molecular diagnosis of fetal CF, markedly enhancing existing prenatal diagnostic capabilities and expanding our understanding of intrauterine genetic disorders, thus assisting us to better interpret fetal phenotype in the future.

Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing.

Fetal hyperechogenic kidneys (HEK) is etiologically a heterogeneous disorder. The aim of this study was to identify the genetic causes of HEK using prenatal chromosomal microarray analysis (CMA) and exome sequencing (ES). From June 2014 to September 2022, we identified 92 HEK fetuses detected by ultrasound. We reviewed and documented other ultrasound anomalies, microscopic and submicroscopic chromosomal abnormalities, and single gene disorders. We also analyzed the diagnostic yield of CMA and ES and the clinical impact the diagnosis had on pregnancy management. In our cohort, CMA detected 27 pathogenic copy number variations (CNVs) in 25 (25/92, 27.2%) fetuses, with the most common CNV being 17q12 microdeletion syndrome. Among the 26 fetuses who underwent further ES testing, we identified 7 pathogenic/likely pathogenic variants and 8 variants of uncertain significance in 9 genes in 12 fetuses. Four novel variants were first reported herein, expanding the mutational spectra for HEK-related genes. Following counseling, 52 families chose to continue the pregnancy, and in 23 of them, postnatal ultrasound showed no detectable renal abnormalities. Of these 23 cases, 15 had isolated HEK on prenatal ultrasound. Taken together, our study showed a high rate of detectable genetic etiologies in cases with fetal HEK at the levels of chromosomal (aneuploidy), sub-chromosomal (microdeletions/microduplications), and single gene (point mutations). Therefore, we speculate that combined CMA and ES testing for fetal HEK is feasible and has good clinical utility. When no genetic abnormalities are identified, the findings can be transient, especially in the isolated HEK group.

Readout-Segmented Echo-Planar Diffusion-Weighted MR Imaging Improves the Differentiation of Breast Cancer Receptor Statuses Compared With Conventional Diffusion-Weighted Imaging.

BACKGROUND: Readout-segmented echo-planar diffusion-weighted imaging (RS-EPI) can improve image quality and signal-to-noise ratio, the resulting apparent diffusion coefficient (ADC) value acts as a more sensitive biomarker to characterize tumors. However, data regarding the differentiation of breast cancer (BC) receptor statuses using RS-EPI are limited. PURPOSE: To determine whether RS-EPI improves the differentiation of receptor statuses compared with conventional single-shot (SS) EPI in breast MRI. STUDY TYPE: Retrospective. POPULATION: A total of 151 BC women with the mean age of 50.6 years. FIELD STRENGTH/SEQUENCE: A 3 T/ RS-EPI and SS-EPI. ASSESSMENT: The ADCs of the lesion and normal background tissue from the two sequences were collected by two radiologists with 15 years of experience working of breast MRI (M.H.Z. and X.F.C.), and a normalized ADC was calculated by dividing the mean ADC value of the lesion by the mean ADC value of the normal background tissue. STATISTICAL TESTS: Agreement between the ADC measurements from the two sequences was assessed using the Pearson correlation coefficient and Bland-Altman plots. One-way analysis of variance, Kruskal-Wallis test, and median difference were used to compare the ADC measurements for all lesions and different receptor statuses. A P value less than 0.05 indicated a significant result. RESULTS: The ADC measurements of all lesions and normal background tissues were significantly higher on RS-EPI than on SS-EPI (1.82 ± 0.33 vs. 1.55 ± 0.30 and 0.83 ± 0.11 vs. 0.79 ± 0.10). The normalized ADC was lower on RS-EPI than on SS-EPI (0.47 ± 0.11 vs. 0.53 ± 0.12, a median difference of -0.04 [95% CI: -0.256 to 0.111]). For both diffusion methods, only the ADC measurement of RS-EPI was higher for human epidermal growth factor receptor-2 (HER-2)-positive tumors than for HER-2-negative tumors (0.87 ± 0.10 vs. 0.81 ± 0.11), and this measurement was associated with HER-2 positive status (adjusted odds ratio [OR] = 654.4); however, similar results were not observed for the ADC measurement of SS-EPI (0.80 ± 0.10 vs. 0.78 ± 0.11 with P = 0.199 and adjusted OR = 0.21 with P = 0.464, respectively). DATA CONCLUSION: RS-EPI can improve the distinction between HER-2-positive and HER-2-negative breast cancer, complementing the clinical application of diffusion imaging. EVIDENCE LEVEL: 3 TECHNICAL EFFICACY: Stage 1.

Giant subcutaneous bronchogenic cyst in the intergluteal cleft region of an adult: a case report and literature review.

BACKGROUND: Bronchogenic cysts (BCs) are generally detected in the mediastinum, along the tracheobronchial tree, or in the lung parenchyma. Subcutaneous BCs are rare, but, when found, are usually small (< 3 cm) and detected in children. CASE PRESENTATION: In an unusual adult case, we treated a 52-year-old woman who presented with a mass in the left intergluteal cleft region. Ultrasonography showed a well-circumscribed hypoechoic lesion with posterior enhancement and internal echogenic foci within the mass. Color Doppler images showed no signals. Computed tomography showed the mass as a homogeneous, 6.8- × 6.3- × 5.1-cm soft tissue-attenuation lesion lodged in subcutaneous fatty tissue. Magnetic resonance imaging revealed a cystic lesion of similar dimensions with heterogeneous hyperintensity on both T1- and T2-weighted images. No contrast enhancement, solid components, or restricted diffusion foci were apparent. The cyst was completely excised, and histopathological evaluation indicated it was a BC. The patient's recovery was uneventful. CONCLUSIONS: BCs should be considered in the differential diagnosis of all subcutaneous cystic masses, regardless of their location and size and the patient's age.

T2 mapping and fat quantification of lumbar paraspinal muscle in ankylosing spondylitis: a case control study.

BACKGROUND: To compare changes in the composition of paraspinal muscles of patients with ankylosing spondylitis (AS) and matched healthy controls using T2 mapping and T2 IDEAL and correlate the quantitative magnetic resonance imaging (qMRI) results with clinical assessments of AS patients. METHOD: In total, 37 AS patients and 37 healthy controls were enrolled in the case control study. T2 mapping with and without fat saturation and IDEAL imaging were used to assess the multifidus (MF) and erector spinae (ES) at the levels of L3/L4 and L4/L5 for all subjects. Mean T2non-fatsat, T2fat, T2fatsat, cross-sectional area (CSA), and fat fraction (FF) were compared between AS and healthy controls. Correlations of qMRI results with clinical assessments were analyzed in AS. RESULTS: Significantly elevated mean T2non-fatsat values and the FF of the MF and ES at both levels were observed in AS and compared to the controls (p < 0.05). The mean T2fatsat values of ES and MF were significantly higher only at the level of L3/L4 in AS compared to healthy controls (p < 0.05). A loss of muscle CSA compatible with atrophy was present in MF and ES at both levels in AS compared to the controls (p < 0.05). Weak to moderate positive correlations were found between FF and age and disease duration in AS (r = 0.318-0.415, p < 0.05). However, such positive correlation was not observed between FF and disease duration after adjusting for age (p > 0.05). CONCLUSIONS: Our findings indicate that using a combination of IDEAL and T2 mapping may provide deeper insights into the pathophysiological degeneration of paraspinal muscles in AS.

A multicentre double-blind, double-dummy, randomised study of recombinant human thrombopoietin versus eltrombopag in the treatment of immune thrombocytopenia in Chinese adult patients.

We performed a double-blind, double-dummy controlled study to compare the efficacy between recombinant human thrombopoietin (rhTPO) and eltrombopag in rapidly increasing the platelet counts in Chinese patients with immune thrombocytopenia (ITP). A total of 96 patients diagnosed with ITP for ≥6 months who had baseline platelet counts of <30 × 109 /l were randomly assigned (1:1 ratio) to receive eltrombopag 25 mg/day or rhTPO 300 u/kg for 2 weeks. Compared with the eltrombopag group, a significantly higher proportion of patients in the rhTPO group achieved platelet counts of ≥50 × 109 /l [75·00% (36/48) vs. 43·75% (21/48), P = 0·003] or complete response (64·58% vs. 25·00%) on day 15. Moreover, a higher proportion of patients in the rhTPO group either had platelet counts that rapidly increased to twice that of baseline and with platelet counts of ≥30 × 109 /l, or reached ≥50 × 109 /l at least once when analysed on day 9, 12, and 15. However, upon discontinuation of the treatment, the platelet counts reduced to the baseline within 1 week in the rhTPO group, but on the fourth week in the eltrombopag group. Adverse events were similar in patients given rhTPO and eltrombopag. To conclude, rhTPO is superior to eltrombopag at 25 mg/day in rapidly increasing platelet counts in patients with ITP (ClinicalTrials.gov Identifier: NCT03771378).

Atypical presentations of coronavirus disease 2019 (COVID-19) from onset to readmission.

BACKGROUND: To investigate the CT imaging and clinical features of three atypical presentations of coronavirus disease 2019 (COVID-19), namely (1) asymptomatic, (2) CT imaging-negative, and (3) re-detectable positive (RP), during all disease stages. METHODS: A consecutive cohort of 79 COVID-19 patients was retrospectively recruited from five independent institutions. For each presentation type, all patients were classified into atypical vs. typical groups (i.e., asymptomatic vs.symptomatic, CT imaging-negative vs. CT imaging-positive, and RP and non-RP,respectively). The chi-square test, Student's t test, and Kruskal-Wallis H test were performed to compare CT imaging and clinical features of atypical vs. typical patients for all three presentation categories. RESULTS: In our COVID-19 cohort, we found 12.7% asymptomatic patients, 13.9% CT imaging-negative patients, and 8.9% RP patients. The asymptomatic patients had fewer hospitalization days (P=0.043), lower total scores for bilateral lung involvement (P< 0.001), and fewer ground-glass opacities (GGOs) in the peripheral area (P< 0.001) than symptomatic patients. The CT imaging-negative patients were younger (P=0.002), had a higher lymphocyte count (P=0.038), had a higher lymphocyte rate (P=0.008), and had more asymptomatic infections (P=0.002) than the CT imaging-positive patients. The RP patients with moderate COVID-19 had lower total scores of for bilateral lung involvement (P=0.030) and a smaller portion of the left lung affected (P=0.024) than non-RP patients. Compared to their first hospitalization, RP patients had a shorter hospitalization period (P< 0.001) and fewer days from the onset of illness to last RNA negative conversion (P< 0.001) at readmission. CONCLUSIONS: Significant CT imaging and clinical feature differences were found between atypical and typical COVID-19 patients for all three atypical presentation categories investigated in this study, which may help provide complementary information for the effective management of COVID-19.

Risk stratification and outcomes of intracranial hemorrhage in patients with immune thrombocytopenia under 60 years of age.

Intracranial hemorrhage (ICH) is a devastating complication of immune thrombocytopenia (ITP). However, information on ICH in ITP patients under the age of 60 years is limited, and no predictive tools are available in clinical practice. A total of 93 adult patients with ITP who developed ICH before 60 years of age were retrospectively identified from 2005 to 2019 by 27 centers in China. For each case, 2 controls matched by the time of ITP diagnosis and the duration of ITP were provided by the same center. Multivariate analysis identified head trauma (OR = 3.216, 95%CI 1.296-7.979, P =.012), a platelet count ≤ 15,000/µL at the time of ITP diagnosis (OR = 1.679, 95%CI 1.044-2.698, P =.032) and severe/life-threatening bleeding (severe bleeding vs. mild bleeding, OR = 1.910, 95%CI 1.088-3.353, P =.024; life-threatening bleeding vs. mild bleeding, OR = 2.620, 95%CI 1.360-5.051, P =.004) as independent risk factors for ICH. Intraparenchymal hemorrhage (OR = 5.191, 95%CI 1.717-15.692, P =.004) and a history of severe bleeding (OR = 4.322, 95%CI 1.532-12.198, P =.006) were associated with the 30-day outcome of ICH. These findings may facilitate ICH risk stratification and outcome prediction in patients with ITP.

Severe Anaphylaxis During Allogeneic Hematopoietic Stem Cell Transplantation in a Patient with Aplastic Anemia: Case Report of Individualized Pharmaceutical Care and Literature Review.

BACKGROUND: Cyclosporine injection is usually applied in allogeneic hematopoietic stem cell transplantation (Allo-HSCT) during induction phase. Anaphylaxis to cyclosporine injection is rare and how to deal with this issue in clinical practice is intractable. METHODS: We report a Chinese male patient with aplastic anemia who underwent allogeneic bone marrow transplantation (BMT) from his brother where HLA totally matched (10/10). Cyclosporine at a dose of 3 mg/kg was started by continuous infusion over 24 hours on day -1 of BMT and the patient showed sever anaphylaxis symptoms. He was then given oral capsules of cyclosporine (Sandimmun) at a conversion ratio 2:1. No further anaphylactic reaction was observed. The BM cells were successfully engrafted without causing severe GVHD. Moreover, frequent TDM monitoring as well as CYP3A4/CYP3A5/MDR1 genotyping were given so as to tailor the oral dosage of cyclosporine individually and prevent the adverse reaction between cyclosporine and posaconazole. RESULTS: The patient carried CYP3A5*3 GG genotype and the concentration of cyclosporine remained steady in the period of conversion and combination of cyclosporine and posaconazole. Consequently, the patient reported no allergy after conversion to oral cyclosporine. CONCLUSIONS: Polyoxyethylated castor oil that is contained in cyclosporine may be the main allergen. Changing to oral capsules that do not contain this medicinal excipient instead of cyclosporine injection would no longer cause an allergic reaction. Rational use of immunosuppressants and prophylaxis antibiotics may need close cooperation between physicians and pharmacists to avoid side effects and harmful interactions.

Inhibition of pentose phosphate pathway suppresses acute myelogenous leukemia.

Pentose phosphate pathway (PPP) is a metabolic pathway that generates NADPH and pentose. PPP genes have been reported to be primarily or secondarily upregulated in many cancers. We aimed to study the general alteration of PPP in acute myelogenous leukemia (AML). We performed data mining and analysis of the Cancer Genome Atlas (TCGA) AML dataset for genetic alteration of the PPP gene set. In vitro studies including proliferation, migration, and invasion assays, together with metabolite consumption and oxidation assays, were performed. PPP genes were upregulated in 61 % of patients with AML. The majority of altered cases were expression changes measured by RNA sequencing. Expressions of critical PPP genes such as G6PD, PFKL, PFKP, and PGLS were consistently upregulated in all altered cases. Altered PPP is not associated with survival or disease relapse. PPP inhibition using 6-aminonicotinamide (6AN) increases glucose oxidative metabolism in AML. 6AN decreased the glucose oxidation and increased fatty acid oxidation. Here, we showed that PPP inhibition increased glucose oxidative metabolism in AML. PPP inhibition suppressed growth, migration, and invasion of AML, but not colony formation. PPP plays an important role in AML. Our results could contribute to the development of novel targeted treatment.

Unusual presentation of primary hyperparathyroidism: report of three cases.

BACKGROUND: Primary hyperparathyroidism is an endocrinopathic condition characterized by hypersecretion of parathyroid hormone. Excess parathyroid hormone results in an altered state of osseous metabolism involving bone resorption and tissue change known as osteitis fibrosa cystica, which is the end stage of primary hyperparathyroidism. Osteitis fibrosa cystica is associated with the development of brown tumors, which are rare because hyperparathyroidism is now usually diagnosed and treated before symptoms develop. Brown tumors are rarely the first symptom of hyperparathyroidism and can occasionally be mistaken for malignancy. CASE PRESENTATION: We herein report three cases of primary hyperparathyroidism with an unusual presentation of brown tumors. All three patients were Asian. In the first case, a 42-year-old man was admitted with a mass mimicking a malignant bone neoplasm in the right mandible as the first manifestation of primary hyperparathyroidism. The second case involved a 25-year-old man admitted with a fracture of his right femur. The third case involved a 43-year-old man with multiple brown tumors in both lower limbs. All three patients underwent successful parathyroidectomy for parathyroid adenomas; one case was complicated by a papillary thyroid carcinoma. CONCLUSION: Complete evaluation of the medical history and biochemical and radiographic findings is necessary to achieve a correct diagnosis and avoid unnecessary bone resections in patients with primary hyperparathyroidism.

Aspirin inhibits proliferation and induces apoptosis of multiple myeloma cells through regulation of Bcl-2 and Bax and suppression of VEGF.

OBJECTIVES: Aspirin (ASA) has been frequently used for thromboprophylaxis in patients with multiple myeloma (MM) when treated with thalidomide or lenalidomide. Despite the well-recognized chemopreventive role of ASA in some solid tumors particularly for colon cancer, whether ASA displays the antimyeloma activity remains unclear. METHODS: MM1.S and RPMI-8226 cell lines harboring K-Ras and N-Ras mutation, respectively, were treated with various concentrations of ASA for different hours. The cell proliferation and apoptosis were performed to explore the effects of ASA on myeloma. Then, the exact mechanisms governing ASA's antimyeloma were explored by qRT-PCR and Western blot. Also, the effect of ASA on tumor growth was observed in NOD/SCID mice bearing myeloma xenografts. RESULTS: ASA of 0-10 mm concentration inhibits proliferation MM1.S and RPMI-8226 cells in time- and dose-dependent manner. The myeloma cells exposed to ASA treatment displayed concentration-dependent apoptosis, which was closely associated with activation of caspases, upregulation of Bax, and downregulation of Bcl-2 and VEGF. Study in vivo revealed that ASA administration retarded the tumor growth accompanying the survival time of mice bearing myeloma xenografts. CONCLUSIONS: ASA exerted antiproliferative and pro-apoptotic action in myeloma cells in vitro and delayed the growth of human myeloma cells in vivo. The underlying mechanisms were ascribed to regulation of Bcl-2 and Bax and suppression of VEGF.

Functional analysis of a novel splice site variant in the ASAH1 gene.

BACKGROUND: Acid ceramidase (ACDase) deficiency is an ultrarare autosomal recessive lysosomal disorder caused by pathogenic N-acylsphingosine amidohydrolase (ASAH1) variants. It presents with either Farber disease (FD) or spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). OBJECTIVE: The study aims to identify a novel splice site variant in a hydrops fetus that causes ASAH1-related disorder, aid genetic counseling, and accurate prenatal diagnosis. METHODS: We report a case of hydrops fetalis with a novel homozygous mutation in ASAH1 inherited from non-consanguineous parents. We performed copy number variation sequencing (CNV-Seq) and whole exome sequencing (WES) on the fetus and family, respectively. Minigene splicing analyses were conducted to confirm the pathogenic variants. RESULTS: WES data revealed a splice site variant of the ASAH1 (c.458-2A>T), which was predicted to affect RNA splicing. Minigene splicing analyses found that the c.458-2A>T variant abolished the canonical splicing of intron 6, thereby activating two cryptic splicing products (c.456_458ins56bp and c.458_503del). CONCLUSIONS: Overall, we identified a novel splice site variant in the mutational spectrum of ASAH1 and its aberrant effect on splicing. These findings highlight the importance of ultrasonic manifestation and family history of fetal hydrops during ASAH1-related disorders and could also aid genetic counseling and accurate prenatal diagnosis. To the best of our knowledge, this is the shortest-lived account of ASAH1-related disorders in utero with severe hydrops fetalis.

Sacroiliitis diagnosis based on interpretable features and multi-task learning.

Objective.Sacroiliitis is an early pathological manifestation of ankylosing spondylitis (AS), and a positive sacroiliitis test on imaging may help clinical practitioners diagnose AS early. Deep learning based automatic diagnosis algorithms can deliver grading findings for sacroiliitis, however, it requires a large amount of data with precise labels to train the model and lacks grading features visualization. In this paper, we aimed to propose a radiomics and deep learning based deep feature visualization positive diagnosis algorithm for sacroiliitis on CT scans. Visualization of grading features can enhance clinical interpretability with visual grading features, which assist doctors in diagnosis and treatment more effectively.Approach.The region of interest (ROI) is identified by segmenting the sacroiliac joint (SIJ) 3D CT images using a combination of the U-net model and certain statistical approaches. Then, in addition to extracting spatial and frequency domain features from ROI according to the radiographic manifestations of sacroiliitis, the radiomics features have also been integrated into the proposed encoder module to obtain a powerful encoder and extract features effectively. Finally, a multi-task learning technique and five-class labels are utilized to help with performing positive tests to reduce discrepancies in the evaluation of several radiologists.Main results.On our private dataset, proposed methods have obtained an accuracy rate of 87.3%, which is 9.8% higher than the baseline and consistent with assessments made by qualified medical professionals.Significance.The results of the ablation experiment and interpreting analysis demonstrated that the proposed methods are applied in automatic CT scan sacroiliitis diagnosis due to their excellently interpretable and portable advantages.

Attitudes toward communication skills with learner needs assessment within radiology residency programs in China: a cross-sectional survey.

BACKGROUND: Communication skills (CS) represent a core competency in radiology residency training. However, no structured curriculum exists to train radiology residents in CS in China. The aim of this study was to evaluate the status and prevalence of doctor-patient communication training among radiology residents in nine Chinese accredited radiology residency training programs and to determine whether there is a perceived need for a formalized curriculum in this field. METHODS: We administered a cross-sectional online survey to radiology residents involved in CS training at nine standard residency training programs in China. The questionnaire developed for this study included CS training status, residents' demographics, attitudes toward CS training, communication needs, and barriers. Residents' attitudes toward CS training were measured with the Communication Skills Attitude Scale (CSAS) and its subscales, a positive attitude scale (PAS) and negative attitude scale (NAS). RESULTS: A total of 133 (48.36%) residents participated in the survey. The mean total scores on the two dimensions of the CSAS were 47.61 ± 9.35 in the PAS and 36.34 ± 7.75 in the NAS. Factors found to be significantly associated with the PAS included receiving previous training in CS, medical ethics, or humanities and the doctor's attire. We found that first-year residents and poor personal CS were the most influential factors on the NAS. Only 58.65% of participants reported having previously received CS training during medical school, and 72.93% of respondents reported failure in at least one difficult communication during their residency rotation. Most of those surveyed agreed that CS can be learned through courses and were interested in CS training. Some of the most common barriers to implementing formal CS training were a lack of time, no standardized curriculum, and a lack of materials and faculty expertise. CONCLUSIONS: Most residents had a very positive attitude toward CS training and would value further training, despite the limited formal CS training for radiology residents in China. Future efforts should be made to establish and promote a standard and targeted CS curriculum for Chinese radiology residents.

Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype-phenotype correlations.

BACKGROUND: Polycystic renal disease is a frequent congenital anomaly of the kidneys, but research using chromosomal microarray analysis and exome sequencing in fetuses with polycystic renal disease remains sparse, with most studies focusing on the multisystem or genitourinary system. OBJECTIVE: This study aimed to assess the detection rate of detectable genetic causes of fetal polycystic renal disease at different levels, novel disease-causing variants, and genotype-phenotype correlations. STUDY DESIGN: This study included 220 fetal polycystic renal disease cases from January 2014 to June 2022. Cases were divided into the following 3 groups: isolated multicystic dysplastic kidneys, nonisolated multicystic dysplastic kidneys, and suspected polycystic kidney disease group. We reviewed data on maternal demographics, ultrasonographic results, chromosomal microarray analysis/exome sequencing results, and pregnancy outcomes. RESULTS: In our cohort, chromosomal microarray analysis identified 19 (8.6%) fetuses carrying chromosomal abnormalities, and the most common copy number variation was 17q12 microdeletion (7/220; 3.2%). Furthermore, 94 families chose to perform trio-exome sequencing testing, and 21 fetuses (22.3%) were found to harbor pathogenic/likely pathogenic variants. There was a significant difference in the live birth rate among the 3 groups (91/130 vs 46/80 vs 1/10; P<.001). Among 138 live birth cases, 106 (78.5%) underwent postnatal ultrasound review, of which 95 (89.6%) had a consistent prenatal-postnatal ultrasound diagnosis. CONCLUSION: For both isolated and nonisolated polycystic renal disease, our data showed high detection efficiency with both testing tools. The detection of novel pathogenic variants expands the known disease spectrum of polycystic renal disease-associated genes while enriching our understanding of the genotype-phenotype correlation. Therefore, we consider it feasible to perform chromosomal microarray analysis+exome sequencing testing in fetal polycystic renal disease. Moreover, prenatal-postnatal ultrasound concordance was greater, the live birth rate was higher, and prognosis was better when known genetic disorders were excluded, indicating that genetic testing results significantly influenced pregnancy decisions.

Prenatal diagnosis and outcomes in fetuses with duplex kidney.

OBJECTIVE: Duplex kidney is a relatively frequent form of urinary system abnormality. This study aimed to elucidate the value of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) for duplex kidney and the perinatal outcomes of duplex kidney fetuses. METHODS: This retrospective cohort study included 63 patients with duplex kidney diagnosed using antenatal ultrasound between August 2013 and January 2023. We reviewed the clinical characteristics, genetic test results, and pregnancy outcomes of the patients. RESULTS: Among the 63 cases based on the inclusion criteria, the CMA detected seven (11.1%) clinically significant variants and nine variants of uncertain significance (VUS), and the pathogenic/likely pathogenic (P/LP) copy number variations (CNVs) in the recurrent region that were associated with prenatal duplex kidney included 17q12, 17p13.3, and 22q11.2. No significant disparity was observed in the CMA detection rate between the unilateral and bilateral groups, or between the isolated and non-isolated groups. WES identified three (50%) P/LP single-gene variants in six fetuses with duplex kidney. We detected the following pathogenic genes in the duplex kidney fetuses: KMT2D, SMPD4, and FANCI. Pregnancy termination in cases where clinically significant variants were detected by genetic testing was different in statistical significance from that in cases with negative results (9/10, 90.0% vs 8/48, 16.7%, P < 0.001). CONCLUSION: This study elucidated the value of CMA and WES for fetal duplex kidney, proving that CMA and WES may be useful tools in prenatal diagnosis and genetic counseling.