Results of a Pilot External Quality Assessment Scheme for Genetic Testing of Newborns with Spinal Muscular Atrophy.

BACKGROUND: This study aims to evaluate the ability of laboratories to perform spinal muscular atrophy (SMA) genetic testing in newborns based on dried blood spot (DBS) samples, and to provide reference data and advance preparation for establishing the pilot external quality assessment (EQA) scheme for SMA genetic testing of newborns in China. METHODS: The pilot EQA scheme contents and evaluation principles of this project were designed by National Center for Clinical Laboratories (NCCL), National Health Commission. Two surveys were carried out in 2022, and 5 batches of blood spots were submitted to the participating laboratory each time. All participating laboratories conducted testing upon receiving samples, and test results were submitted to NCCL within the specified date. RESULTS: The return rates were 75.0% (21/28) and 95.2% (20/21) in the first and second surveys, respectively. The total return rate of the two examinations was 83.7% (41/49). Nineteen laboratories (19/21, 90.5%) had a full score passing on the first survey, while in the second survey twenty laboratories (20/20, 100%) scored full. CONCLUSIONS: This pilot EQA survey provides a preliminary understanding of the capability of SMA genetic testing for newborns across laboratories in China. A few laboratories had technical or operational problems in testing. It is, therefore, of importance to strengthen laboratory management and to improve testing capacity for the establishment of a national EQA scheme for newborn SMA genetic testing.

Diagnostic value of multiple b-value diffusion-weighted imaging in discriminating the malignant from benign breast lesions.

OBJECTIVE: The conventional breast Diffusion-weighted imaging (DWI) was subtly influenced by microcirculation owing to the insufficient selection of the b values. However, the multiparameter derived from multiple b-value exhibits more reliable image quality and maximize the diagnostic accuracy. We aim to evaluate the diagnostic performance of stand-alone parameter or in combination with multiparameter derived from multiple b-value DWI in differentiating malignant from benign breast lesions. METHODS: A total of forty-one patients diagnosed with benign breast tumor and thirty-eight patients with malignant breast tumor underwent DWI using thirteen b values and other MRI functional sequence at 3.0 T magnetic resonance. Data were accepted mono-exponential, bi-exponential, stretched-exponential, aquaporins (AQP) model analysis. A receiver operating characteristic curve (ROC) was used to evaluate the diagnostic performance of quantitative parameter or multiparametric combination. The Youden index, sensitivity and specificity were used to assess the optimal diagnostic model. T-test, logistic regression analysis, and Z-test were used. P value < 0.05 was considered statistically significant. RESULT: The ADCavg, ADCmax, f, and α value of the malignant group were lower than the benign group, while the ADCfast value was higher instead. The ADCmin, ADCslow, DDC and ADCAQP showed no statistical significance. The combination (ADCavg-ADCfast) yielded the largest area under curve (AUC = 0.807) with sensitivity (68.42%), specificity (87.8%) and highest Youden index, indicating that multiparametric combination (ADCavg-ADCfast) was validated to be a useful model in differentiating the benign from breast malignant lesion. CONCLUSION: The current study based on the multiple b-value diffusion model demonstrated quantitatively multiparametric combination (ADCavg-ADCfast) exhibited the optimal diagnostic efficacy to differentiate malignant from benign breast lesions, suggesting that multiparameter would be a promising non-invasiveness to diagnose breast lesions.

Magnetic resonance imaging features of a solitary fibrous tumor of the vulva: a case report.

Solitary fibrous tumors (SFTs) are commonly seen in the pleura. SFT involvement of the vulva is rare, and clinical diagnosis is mainly based on histopathological and immunohistochemical analyses. We herein describe the imaging features of a 69-year-old woman with an SFT of the vulva. The SFT was hypointense on T1-weighted images, similar to muscle; however, it showed inhomogeneous hyperintensity predominantly on fat-suppressed T2-weighted images. An area of low signal intensity was evident on T2-weighted images, and the tumor showed progressive enhancement in delayed phases. The tumor also displayed heterogeneous and prolonged, persistent enhancement, and serpentine vessels were present in the peritumoral area as signal voids. Pathological examination confirmed that the lesion was an atypical SFT originating from the vulva, and it was composed of spindle cells and perivascular and stromal hyalinization. This case reveals the characteristic imaging findings of vulvar SFT and their association with the relevant pathological findings, thus contributing to the primary diagnosis and preoperative evaluation of this potentially aggressive tumor.

An Oxygen-Enriched Photodynamic Nanospray for Postsurgical Tumor Regression.

Postoperative local recurrence and metastasis are non-negligible challenges in clinical cancer treatment. Photodynamic therapy (PDT) has presented a great potential in preventing cancer recurrence owing to its noninvasiveness and high specificity for local irradiation of tumor sites. However, the application of conventional PDT is often limited by insufficient oxygen supply, making it difficult to achieve high PDT efficacy. Herein, we combined liposomes with photosensitizer indocyanine green (ICG) and perfluorooctyl bromide (PFOB) to develop a new oxygen-enriched photodynamic nanospray (Lip-PFOB-ICG) for cancer postoperative treatment. The Lip-PFOB-ICG not only has good biocompatibility but also enhanced the PDT effect under near-infrared light. More importantly, PFOB can continuously absorb oxygen, thus improving the collision energy transfer between the ICG photosensitizer and oxygen, and significantly inhibit local tumor recurrence in the subcutaneous tumor recurrence model. This oxygen-enriched photodynamic nanospray strategy may open up new avenues for effective postoperative cancer therapy in the clinic.