[Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review].

Objective: To summarize the clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation. Methods: This was a case series research. Clinical date and genetic results of 2 neonatal cases of Zellweger syndrome caused by PEX6 gene variation in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology and Affiliated Hospital of Guangdong Medical University from July 2021 to July 2022 were retrospectively collected and analyzed. Literature up to August 2023 was searched from electronic databases of China National Knowledge Infrastructure (CNKI), Wanfang Data and PubMed with the combined keywords of "Zellweger syndrome" "Zellweger spectrum disorder", and "PEX6 gene" both in Chinese and English. The main clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation were summarized. Results: The 2 male neonates both developed clinical manifestations as dyspnea, hypotonia, feeding difficulties, enlarged fontanelle, and high palatine arch after birth. Biochemical parameters indicated elevated bile acids, and the cranial ultrasound showed the enlarged bilateral ventricles and subependymal cyst in both 2 neonates. Zellweger syndrome was confirmed by whole exome sequencing, and the results revealed PEX6 gene variation in the 2 neonates, including compound heterozygous variants c.315G>A and c.2095-3T>G, and homozygous variant c.506_507del. Case 1 was hospitalized for 5 days, and case 2 for 32 days; they both died shortly after being discharged (the specific time is unknown). Literature review found 26 patients, including 2 neonates in this study, with Zellweger spectrum disorder caused by PEX6 gene defect reported in 1 Chinese article and 11 English articles. Clinical features included hearing loss (19 cases), developmental delay (19 cases), vision impairment (19 cases), elevated very long chain fatty acids (17 cases), brain malformations (15 cases), hypotonia (12 cases), hepatic insufficiency (12 cases), distinctive facies (10 cases), and dental impairment (9 cases). Compound heterozygous variations dominated the variation types (15 cases), and the frameshift variations (16 cases) were the main pathogenic variations. Conclusions: Zellweger spectrum disorder should be considered when neonates show hypotonia, feeding difficulty, distinctive facial appearance, brain malformations and failure of hearing screening, or when older children show retinitis pigmentosa, sensorineural hearing loss, amelogenesis imperfecta and developmental delays. Detection of genetic variation in the PEX gene is crucial for definitive diagnosis.

Iodine Maps from Dual-Energy CT to Predict Extrathyroidal Extension and Recurrence in Papillary Thyroid Cancer Based on a Radiomics Approach.

BACKGROUND AND PURPOSE: Accurate prediction of extrathyroidal extension and subsequent recurrence is crucial in papillary thyroid cancer clinical management. Our aim was to conduct iodine map-based radiomics to predict extrathyroidal extension and to explore its prognostic value for recurrence-free survival in papillary thyroid cancer. MATERIALS AND METHODS: A total of 452 patients with papillary thyroid cancer were retrospectively recruited between June 2017 and June 2020. Radiomics features were extracted from noncontrast images, dual-phase mixed images, and iodine maps, respectively. Random forest and least absolute shrinkage and selection operator (LASSO) were applied to build 6 radiomics scores (noncontrast radiomics score_random forest; noncontrast rad-score_LASSO; mixed rad-score_random forest; mixed rad-score_LASSO; iodine radiomics score_random forest; iodine radiomics score_LASSO) respectively. Logistic regression was used to construct 6 radiomics models incorporating 6 radiomics scores with clinical risk factors and to compare them with the clinical model. A radiomics model that achieved the highest performance was presented as a nomogram and assessed by discrimination, calibration, clinical usefulness, and prognosis evaluation. RESULTS: Iodine radiomics scores performed significantly better than mixed radiomics scores. Both of them outperformed noncontrast radiomics scores. Iodine map-based radiomics models significantly surpassed the clinical model. A radiomics nomogram incorporating size, capsule contact, and iodine radiomics score_random forest was built with the highest performance (training set, area under the curve = 0.78; validation set, area under the curve = 0.84). Stratified analysis confirmed the nomogram stability, especially in group negative for CT-reported extrathyroidal extension (area under the curve = 0.69). Nomogram-predicted extrathyroidal extension risk was an independent predictor of recurrence-free survival. A high risk for extrathyroidal extension portended significantly lower recurrence-free survival than low risk (P < .001). CONCLUSIONS: Iodine map-based radiomics might be a supporting tool for predicting extrathyroidal extension and subsequent recurrence risk in patients with papillary thyroid cancer, thus facilitating clinical decision-making.

Effect of miR-26a on diabetic rats with myocardial injury by targeting PTEN.

Since this article has been suspected of research misconduct and the corresponding authors did not respond to our request to prove originality of data and figures, "Effect of miR-26a on diabetic rats with myocardial injury by targeting PTEN, by S.-S. Cai, X.-W. Tao, Y. Long, K. Xia, Y. Zhang, published in Eur Rev Med Pharmacol Sci 2019; 23 (3 Suppl): 304-311-DOI: 10.26355/eurrev_201908_18661-PMID: 31389595" has been withdrawn. The Publisher apologizes for any inconvenience this may cause. https://www.europeanreview.org/article/18661.

[Application of pulmonary ultrasound in the diagnosis of COVID-19 pneumonia in neonates].

Objective: To investigate the application of pulmonary ultrasound in the diagnosis of neonatal COVID-19. Methods: In this retrospective study, the clinical data of 5 infants, who were admitted to the Department of Neonatology in Wuhan Children's Hospital from 31(st) January to 25(th) February 2020, were collected. Bedsides pulmondary ultrasound was conducted on admission, during the hospitalization, and before discharge, the result were compared with the chest X-ray or CT done at the same time. Results: Among the 5 cases who aged 1-18 days, 3 were male. The main clinical manifestations were respiratory and gastrointestinal symptoms. The pulmonary ultrasonography on admission showed abnormal pleural line and pulmonary edema of different severity in all 5 cases, presented as increase and fusion of B-line, and pulmonary interstitial syndrome; among them, one case also had a small-range consolidation. The chest CT on admission showed no obvious parenchymal infiltration in 2 cases, small strip or patchy high-density shadow in 2 cases, and ground glass change in one case. The re-examination of ultrosound during the hospitalization and at discharge showed improvement in all cases and were consistent with the chest X-ray taken at the same time. Conclusions: The main changes on the pulmonary ultrasonography in neonates with COVID-19 pneumonia are increase and fusion of B-line, abnormal pleural line, and alveolar interstitial syndrome, and may coexist with small range of pulmonary consolidation. The sensitivity of pulmonary ultrasound is higher than that of chest X-ray and CT in the diagnosis of pulmonary edema, and could be used in monitoring and evaluation of the disease.

Effect of miR-26a on diabetic rats with myocardial injury by targeting PTEN.

OBJECTIVE: To investigate the effect of micro ribonucleic acid (miR)-26a on diabetes-induced myocardial injury in rats by targeting the gene of phosphate and tension homology detected on chromosome ten (PTEN). MATERIALS AND METHODS: Male Wistar rats aged 8-9 weeks old were divided into the control group (n=10), GK group (n=10), and miR-26a agomir group (n=10) according to the body weight. MiRanda and TargetScan target gene prediction software were used to predict and analyze the target gene of miR-26a-5p. The expressions of miR-26a and PTEN in the myocardial tissues of the diabetic rats were detected by quantitative Reverse Transcription-Polymerase Chain Reaction (qRT-PCR). Hematoxylin-eosin (HE) staining was adopted to observe the pathological changes in the myocardial tissues. In addition, the terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) assay was conducted to detect myocardial apoptosis, while the expression of PTEN protein was detected via immunohistochemistry, and the protein expressions of PTEN, b-cell lymphoma 2 (Bcl-2), Bcl-2-associated X protein (Bax), and cysteinyl aspartate specific proteinase-3 (Caspase-3) were tested by Western blotting. RESULTS: TargetScan database analysis results showed that miR-26a-5p and PTEN 3'UTR had 6 pairs of complementary bases with the same sequence. Compared with those in the control group, the messenger RNA (mRNA) expression of PTEN in the GK group was notably increased (p<0.05), while that of miR-26a was substantially reduced (p<0.05). In comparison with those in the GK group, the mRNA expression of PTEN was significantly decreased, but that of miR-26a was significantly raised in miR-26a agomir group (p<0.05). Through observation under an optical microscope, it was manifested that in the control group, the myocardial fibers were intact with clear texture but no fracture, and the solid necrosis did not appear in myocardial cells. In the GK group, the myocardial fibers were disorderedly arranged and incomplete with an unclear edge and burrs. The myocardial fibers in the miR-26a agomir group were more regular, with less breakage and solid necrosis. According to TUNEL staining results, the TUNEL-stained brown granules in rats in the GK group were remarkably increased, relative to the control group (p<0.05). Compared with the GK group, miR-26a agomir group had markedly decreased the TUNEL-stained brown particles (p<0.05). It was found in immunohistochemical results that PTEN protein was in lighter color after staining in the control group, with a clear myocardial cell stripe structure. Compared with that in control group, PTEN protein in the GK group was in deeper color after staining, and in comparison with that in the GK group, the color of PTEN protein in miR-26a agomir group became significantly lighter. Moreover, the Western blotting results demonstrated that, compared with those in the control group, the Caspase-3 and Bax protein expressions in the GK group were significantly raised, while Bcl-2 protein expression was notably reduced (p<0.05). Besides, in comparison with the GK group, miR-26a agomir group evidently elevated Caspase-3 and Bax protein expressions and a notably increased Bcl-2 protein expression (p<0.05). CONCLUSIONS: We showed that miR-26a can protect against myocardial injury in diabetic rats by regulating PTEN.