[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.

[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.

Compensated Semimetal LaSb with Unsaturated Magnetoresistance.

By combining angle-resolved photoemission spectroscopy and quantum oscillation measurements, we performed a comprehensive investigation on the electronic structure of LaSb, which exhibits near-quadratic extremely large magnetoresistance (XMR) without any sign of saturation at magnetic fields as high as 40 T. We clearly resolve one spherical and one intersecting-ellipsoidal hole Fermi surfaces (FSs) at the Brillouin zone (BZ) center Γ and one ellipsoidal electron FS at the BZ boundary X. The hole and electron carriers calculated from the enclosed FS volumes are perfectly compensated, and the carrier compensation is unaffected by temperature. We further reveal that LaSb is topologically trivial but shares many similarities with the Weyl semimetal TaAs family in the bulk electronic structure. Based on these results, we have examined the mechanisms that have been proposed so far to explain the near-quadratic XMR in semimetals.

Correlation-induced self-doping in the iron-pnictide superconductor Ba2Ti2Fe2As4O.

The electronic structure of the iron-based superconductor Ba2Ti2Fe2As4O (Tc(onset)=23.5 K) has been investigated by using angle-resolved photoemission spectroscopy and combined local density approximation and dynamical mean field theory calculations. The electronic states near the Fermi level are dominated by both the Fe 3d and Ti 3d orbitals, indicating that the spacer layers separating different FeAs layers are also metallic. By counting the enclosed volumes of the Fermi surface sheets, we observe a large self-doping effect; i.e., 0.25 electrons per unit cell are transferred from the FeAs layer to the Ti2As2O layer, leaving the FeAs layer in a hole-doped state. This exotic behavior is successfully reproduced by our dynamical mean field calculations, in which the self-doping effect is attributed to the electronic correlations in the 3d shells. Our work provides an alternative route of effective doping without element substitution for iron-based superconductors.