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Objective: To examine the feasibility of using crown‐chin length (CCL) to crown‐rump length (CRL) ratio in screening for skeletal dysplasia in the first trimester. Methods: Four hundred and eighteen singleton pregnant women were recruited and the ratio of CCL to CRL was calculated according to gestational age. Fetuses with skeletal dysplasia were collected from database in the last 10 years. The CCL/CRL ratios were then calculated and the unpaired Student's t‐test was to determine the significance of differences between normal fetuses and fetuses with skeletal dysplasia. Receiver operating characteristic curve was used to show the clinical sensitivity and specificity. Results: In 418 normal fetuses, CCL increased linearly with gestation from a mean of 20 mm at 11+0 weeks to 37 mm at 13+6 weeks (CCL [mm] = 0.51–4 CRL, R2 = 0.824, P =.000). There was also a significant linear association between fetal CCL/CRL ratio and CRL, from a mean of 0.48 at 11+0 weeks to 0.41 at 13+6 weeks (CCL/CRL = 0.63–3 CRL, R2 = 0.108, P =.000). In 154 skeletal dysplasia cases, early pregnancy ultrasound images were available in only 16 cases. The CCL/CRL ratio in 10 of 16 fetuses with skeletal dysplasia was above the 95th percentile. Using the 95th percentile as a cut‐off, the detection rate, specificity, false‐positive rate, and positive likelihood ratio are 62.5, 72.6, 5, and 17.5%, respectively. Conclusions: Increased fetal CCL/CRL ratio at 11–14 weeks' gestation is associated with an increased risk of skeletal dysplasia and may be useful in first‐trimester screening for this condition. Access the CME test here and search by article title. [ABSTRACT FROM AUTHOR]

Purpose: Neutrophils remain at the top of congenital and adaptive immune systems. The past 20 years witnessed a steep rise in the interest in neutrophil extracellular traps (NETs), which are a novel type of anti-pathogen mechanism coordinated with neutrophils. However, accumulating data revealed that excessive NETs in the host were associated with exacerbated inflammation, thrombosis, and autoimmunity. Increasing evidence found the participation of NETs in the pathophysiological process of many infectious and sterile diseases in the ocular system. Therefore, we discussed the role of neutrophil extracellular traps in the ocular system in this review. Methods: Articles were searched on PubMed, Embase and Web of science up to December 2021. Results: In this review, we exhibited the protective role of neutrophils patrolling the ocular surface from invading pathogens and their contribution to exacerbated inflammation and thrombogenesis in some ocular diseases. We also discussed the physiological and pathological processes of NET generation to identify novel biomarkers and therapeutic targets to interrupt immoderate NET formation and alleviate NET-induced harmful effects. Conclusions: Neutrophils and NETs are quite important for immune responses in the ocular system, while their negative effects on ocular tissue should also be emphasized, which could serve as novel biomarkers and potential therapeutic targets. [ABSTRACT FROM AUTHOR]

L1 cell adhesion molecule is a type I transmembrane glycoprotein belonging to the immunoglobulin superfamily. Pathogenic mutations of L1CAM can cause L1 syndrome, referred to as a variety of disease spectrums characterized by hydrocephalus. In the present study, we reported two novel variants of L1CAM in two unrelated Chinese families with fetal hydrocephalus history. The woman of family 1, with three consecutive adverse birth histories of male fetuses with hydrocephalus, was identified by an exome sequence with a heterozygous mutation in the L1CAM gene, NM_000425.4: c.1696_1703 + 14del (p. S566Vfs*35), which was predicted to be pathogenic. It is predicted to disrupt RNA splicing and likely leads to an absent or disrupted protein product. In family 2, the mother, previously with once a voluntary termination of pregnancy owning to the fetus with hydrocephalus, was pregnant with a fetus with hydrocephalus in her second pregnancy. After fetal blood sampling, a pathogenic deletion of 1511bp in L1CAM , chromosome X: 153131395-153132905(hg19/GRCh37)/NM_000425.4: c.2043_2432-121del1511 leading to deletion of fibronectin type-III repeats I-II, was identified in the fetus with hydrocephalus inherited from the mother by an exome sequence. On her third pregnancy, a healthy female fetus was born without the L1CAM variant by preimplantation genetic testing for the monogenic disorder. This study emphasizes the importance of ultrasonic manifestation and family history of fetal hydrocephalus for L1CAM diagnosis. Our study expands the genotypes of L1CAM and aids the genetic counseling of fetal hydrocephalus and even preimplantation genetic testing for the monogenic disorder. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the utility of a chromosomal microarray (CMA) in fetuses with isolated fetal growth restriction (FGR) and explore risk factors for the prediction of chromosomal aberration and perinatal adverse outcomes. Method: This study included 271 fetuses of estimated fetal weight less than the 3rd percentile without other structural malformation. Early-onset and late-onset FGR were defined as gestational weeks less than 32 weeks and more than 32 weeks respectively. These patients underwent quantitative fluorescent polymerase chain reaction (QF-PCR) and CMA as the first-line genetic detection strategy. Chromosomal anomalies were compared after stratified analysis by the early-onset and the late-onset FGR, including the absence or presence of ultrasound soft markers, abnormal amniotic fluid, abnormal umbilical Doppler, and gestational disorders. The follow-up time was within 1 year after birth. Logistic regression was used to seek risk predictors of chromosomal aberration and perinatal adverse outcomes for isolated FGR. Results: The CMA identified clinically significant variants in 18/271 (6.6%) fetuses, and variants of unknown significance (VOUS) in 15/271 (5.5%) fetuses. Stratified analysis showed that there was a higher incidence of clinically significant variants in fetuses with the early-onset FGR compared with late-onset FGR (8.7%, 17/195 vs. 1.3%, 1/76, p < 0.05). Regression analysis showed that early gestational age (GA) at diagnosis of FGR was the major risk factor for chromosomal aberration (OR = 0.846). By variable regression analysis, early GA at diagnosis and decreased estimated fetal weight (EFW) percentile of suspicion of FGR, asymmetrical FGR, abnormal amniotic fluid, and severe preeclampsia could all increase the risk of adverse outcomes of isolated FGR including intra-uterine fetal death (IUFD), termination of pregnancy (TOP), and preterm birth in pregnancies with FGR. Conclusion: This study emphasized the value of microarrays for unbalanced genomic variants in fetuses with isolated FGR, especially since the gestational age of nullipara was less than 32 weeks. Perinatal adverse outcomes of isolated FGR were influenced by multiple factors including GA and estimated fetal weight (EFW) percentile of suspicion of FGR, asymmetrical FGR, abnormal amniotic fluid, and severe preeclampsia. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the ratio of Crown to Chin length (CCL) to Crown–rump length (CRL) between triploid and normal fetuses at first trimester and establish a reference range of fetal CCL/CRL ratio. Methods: Three hundred and twenty‐five normal and 12 triploid fetuses were reviewed in this study. The image of fetal Crown–rump length (CRL) was acquired retrospectively. CCL and CRL were measured offline by two experienced sonographers, we obtained each averaged value of CCL and CRL as the final data for analysis. A normal range of CCL was established and CCL/CRL ratio was analyzed in normal and triploid fetuses. Results: In 325 normal fetuses, CCL increased with gestational age following a linear trend from 20 mm at a CRL of 45–36 mm at a CRL of 84 mm (CCL (mm) = 3.65 + 0.38 CRL, R2 = 0.821, P =.000). The CCL/CRL ratio decreased with gestational age from a mean of 0.46 at a CRL of 45 mm to 0.41 at a CRL of 84 mm (PML/CRL = 0.502–0.001 CRL, R2 = 0.093, P =.000). All 12 triploid fetuses had a CCL/CRL ratio above the 95th percentile. When the 95th percentile are used as cutoff values, the detection rate, false‐positive rate, and the positive likelihood ratio are 100%, 5%, and 20, respectively. Conclusions: The present study demonstrates that fetal CCL/CRL ratio can be used and effective ultrasound marker in screening for triploidy during the first trimester. [ABSTRACT FROM AUTHOR]

With the highest incidence, breast cancer is the leading cause of cancer deaths among women in the world. Tumor metastasis is the major contributor of high mortality in breast cancer, and the existence of cancer stem cells (CSCs) has been proven to be the cause of tumor metastasis. CSCs are a small proportion of tumor cells, and they are associated with self-renewal and tumorigenic potential. Given the significance of CSCs in tumor initiation, expansion, relapse, resistance, and metastasis, studies should investigate and discover effective anticancer agents that can not only inhibit the proliferation of differentiated tumor cells but also reduce the tumorigenic capability of CSCs. Thus, new therapies must be discovered to treat and prevent this severely hazardous disease of human beings. The success of platinum complexes in cancer treatment has laid the basic foundation for the utilization of metal complexes in the treatment of malignant cancers, in particular the highly aggressive triple-negative breast cancer. Importantly, metal complexes currently have diverse and versatile competences in the therapeutic targeting of CSCs. The anti-CSC properties provide a strong impetus for the development of novel metal-based compounds for the targeting of CSCs and treatment of chemotherapy-resistant and relapsed tumors. In this review, we provide the latest advances in metal complexes including platinum, ruthenium, osmium, iridium, manganese, cobalt, nickel, copper, zinc, palladium, and tin complexes against breast CSCs obtained over the past decade, with pertinent literature including those published until 2021. [ABSTRACT FROM AUTHOR]

Lung cancer is one of the most common malignancies with the highest mortality rate and the second-highest incidence rate after breast cancer, posing a serious threat to human health. The accidental discovery of the antitumor properties of cisplatin in the early 1960s aroused a growing interest in metal-based compounds for cancer treatment. However, the clinical application of cisplatin is limited by serious side effects and drug resistance. Therefore, other transition metal complexes have been developed for the treatment of different malignant cancers. Among them, Ru(II/III)-based complexes have emerged as promising anticancer drug candidates due to their potential anticancer properties and selective cytotoxic activity. In this review, we summarized the latest developments of Ru(II/III) complexes against lung cancer, focusing mainly on the mechanisms of their biological activities, including induction of apoptosis, necroptosis, autophagy, cell cycle arrest, inhibition of cell proliferation, and invasion and metastasis of lung cancer cells. [ABSTRACT FROM AUTHOR]

Purpose: To report a systematic review and meta-analysis of the association between dry eye disease (DED) and dyslipidaemia., Methods: PubMed, Embase, Web of Science and Cochrane Library were systematically searched from January 2000 to December 2021. We included observational studies to assess the correlation of DED with meibomian gland dysfunction and dyslipidaemia without any language restrictions. The pooled OR with 95% CI was calculated in Stata V.15., Results: Of 6727 identified studies, 18 studies (21 databases) with a total of 2 663 126 patients were analysed in our meta-analysis. The results showed that DED risk was associated with dyslipidaemia (OR=1.53, 95% CI: 1.41 to 1.66, p=0.001), especially elevated total cholesterol levels (OR=1.57, 95% CI: 1.25 to 1.99, p<0.001), elevated low-density lipoprotein cholesterol levels (OR=1.13, 95% CI: 1.06 to 1.20, p<0.001) and high-density lipoprotein cholesterol levels (OR=1.06, 95% CI: 1.01 to 1.11, p<0.001), but not with serum triglyceride levels. Moreover, having a history of lipid-lowering drug use (OR=1.41, 95% CI: 1.19 to 1.67, p<0.001) was also found to be positively associated with DED risk., Conclusions: The findings suggested that dyslipidaemia and lipid-lowering drug use might be associated with an increased risk of DED. More evidence is needed to confirm the findings by prospective studies., Prospero Registration Number: CRD42022296664., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: To investigate the indirect effects of intense pulsed light (IPL) on morphological and pathological changes of the meibomian glands (MGs) in apolipoprotein E knockout ( ApoE -/- ) mice and explore the underlying mechanisms., Methods: ApoE -/- mice were treated with or without IPL three times below the lower eyelids and MGs were not directly exposed to irradiation. The eyelids and ocular surface were observed under a stereoscope. The morphology of MGs was examined by photographing and hematoxylin and eosin staining. Lipid droplets in MGs were examined by Oil Red O staining. The ultrastructure of meibocytes and mitochondria was observed under transmission electron microscopy. The relative gene and protein expression in MGs of upper eyelids was determined by immunostaining, Western blot, and qRT-PCR., Results: Three IPL treatments decreased the toothpaste-like plugging of orifices and thickening and irregularity of the upper and lower eyelid margins in ApoE -/- mice. The morphology of some MGs improved after IPL treatments, accompanied by increased proliferation of acinar basal cells and decreased ductal keratinization. Furthermore, the accumulation of hyperchromatic lipid droplets in the acini increased, and the lipid droplets distributed in the cells around the acini were round and small. Compared with untreated ApoE -/- mice, oxidative stress and apoptosis were downregulated by IPL treatment, accompanied by the improvements in mitochondrial structure. Further research showed that IPL treatments reduced the levels of tumor necrosis factor-alpha (TNF-α), interleukin (IL)-17A, IL-6 in MGs and inactivated nuclear factor kappa B (NF-κ B)., Conclusion: Collectively, the results demonstrate that indirect effects of IPL can improve the structure and function of MGs and mitigate the progression of MGD, which may be related to the indirect effects of photobiomodulation., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Xie, Song, Dong, Li, Chen, Sun, Huang, Cheng, Gao, Yang and Yan.)