Background Pediatric post coronavirus disease 2019(COVID-19)condition(PPCC)is a heterogeneous syndrome,which can significantly affect the daily lives of children.This study aimed to identify clinically meaningful phenotypes in children with PPCC,to better characterize and treat this condition.Methods Participants were children with physician-diagnosed PPCC,referred to the academic hospital Amsterdam UMC in the Netherlands between November 2021 and March 2023.Demographic factors and information on post-COVID symptoms,comorbidities,and impact on daily life were collected.Clinical clusters were identified using an unsupervised and unbiased approach for mixed data types.Results Analysis of 111 patients(aged 3–18 years)revealed three distinct clusters within PPCC.Cluster 1(n=62,median age=15 years)predominantly consisted of girls(74.2%).These patients suffered relatively more from exercise intolerance,dyspnea,and smell disorders.Cluster 2(n=33,median age=13 years)contained patients with an even gender distribution(51.5%girls).They suffered from relatively more sleep problems,memory loss,gastrointestinal symptoms,and arthralgia.Cluster 3(n=16,median age=11 years)had a higher proportion of boys(75.0%),suffered relatively more from fever,had significantly fewer symptoms(median of 5 symptoms compared to 8 and 10 for clusters 1 and 2 respectively),and experienced a lower impact on daily life.Conclusions This study identified three distinct clinical PPCC phenotypes,with variations in sex,age,symptom patterns,and impact on daily life.These findings highlight the need for further research to understand the potentially diverse underlying mechanisms contributing to post-COVID symptoms in children.
Background: In Vitro Fertilization/Intracytoplasmic Sperm Injection (IVF/ICSI) represents the final step in the management of Polycystic Ovarian Syndrome (PCOS). Our objective was to study the association between PCOS phenotypes and IVF/ICSI results in women admitted to Gynaecological Endoscopic Surgery and Human Reproductive Teaching Hospital (CHRACERH). Material and Method: We carried out a cohort study with historical-prospective data collection over a period of seven years (January 2016 to March 2023) at Chracerh. PCOS patients were subdivided into 4 subgroups A, B, C and D. Results: We recruited 128 patients including 64 PCOS patients divided into four phenotypes and 64 non-PCOS patients constituting the control group. Phenotype D without hyperandrogenism had used the lowest dose of gonadotropins, i.e. 1939.7 ± 454.3 IU, and had produced a greater quantity of estradiol on the day ovulation was triggered (6529.8 ± 4324.8 ng/ml). The average number of punctured follicles and mature oocytes were higher in the phenotype D group. Ovarian hyperstimulation syndrome (OHSS) occurred mainly in phenotype D (3/35), with an estimated prevalence of 2.3%. The fertilization rate seemed lower in the hyperandrogenic phenotypes A, B, C compared to the group without hyperandrogenism without significant difference (p = 0.461). The biological pregnancy rate and live birth rate were comparable between the different groups. Conclusion: Phenotype D used less dose of gonadotropins. Biological pregnancy and live birth rates were comparable between the different phenotypes.
Ngono Akam VaninaNgah MinalaBelinga EtienneBelinga EtienneMpono PascaleNyada SergesOnana Y. KasiaCho JoselyneKasia FlorenceAdjessa AbegaKasia Jean Marie
Aging is an inevitable physiological process,often accompanied by age-related bone loss and subsequent bone-related diseases that pose serious health risks.Research on skeletal diseases caused by aging in humans is challenging due to lengthy study durations,difficulties in sampling,regional variability,and substantial investment.Consequently,mice are preferred for such studies due to their similar motor system structure and function to humans,ease of handling and care,low cost,and short generation time.In this review,we present a comprehensive overview of the characteristics,limitations,applicability,bone phenotypes,and treatment methods in naturally aging mice and prematurely aging mouse models(including SAMP6,POLG mutant,LMNA,SIRT6,ZMPSTE24,TFAM,ERCC1,WERNER,and KL/KL-deficient mice).We also summarize the molecular mechanisms of these aging mouse models,including cellular DNA damage response,senescence-related secretory phenotype,telomere shortening,oxidative stress,bone marrow mesenchymal stem cell(BMSC)abnormalities,and mitochondrial dysfunction.Overall,this review aims to enhance our understanding of the pathogenesis of aging-related bone diseases.
Most behavioral traits are known to be weakly heritable,possibly due to their extreme complexity and flexibility.Despite this general pattern,within-species variation in avian colony size choice has been reported to have a strong additive genetic component,but we are aware of no attempts to assess the heritability of avian sociality at the finer spatial scale.Here,we used an animal model and parent-offspring regression to quantify additive genetic variance in social phenotype(local nesting density)in a nonpasserine waterbird,the common tern Sterna hirundo.For this purpose,we used a novel experimental framework,where variation in the social environment was generated by providing birds with artificial patches of attractive nesting substrate that markedly varied in size.During 2011-2019,we collected data on social preferences for either low or high nesting density in over 250 individuals,either kin(mostly parent-offspring relationships)or non-kin recorded breeding multiple times across years.All heritability estimates of local nesting density were low(<0.10),irrespectively of fixed effects(sex and year)included in the models,data used in the modeling(all individuals vs.early recruits),or methodological approach(animal model vs.parent-offspring regression).We conclude that avian sociality,as measured at the local scale,may be much less heritable than colony size choice,as measured at the landscape level.Our study adds to the understanding of additive genetic variance in avian behavior,and it underlines a scale dependency in the heritability of behavioral traits.
Piotr MiniasJoanna Drzewińnska-ChankoRadostaw Wtodarczyk
The gut microbiota is a complex ecosystem composed of many bacteria and their metabolites.It plays an irreplaceable role in human digestion,nutrient absorption,energy supply,fat metabolism,immune regulation,and many other aspects.Exploring the structure and function of the gut microbiota,as well as their key genes and metabolites,will enable the early diagnosis and auxiliary diagnosis of diseases,new treatment methods,better effects of drug treatments,and better guidance in the use of antibiotics.The identification of gut microbiota plays an important role in clinical diagnosis and treatment,as well as in drug research and development.Therefore,it is necessary to conduct a comprehensive review of this rapidly evolving topic.Traditional identification methods cannot comprehensively capture the diversity of gut microbiota.Currently,with the rapid development of molecular biology,the classification and identification methods for gut microbiota have evolved from the initial phenotypic and chemical identification to identification at the molecular level.This review integrates the main methods of gut microbiota identification and evaluates their application.We pay special attention to the research progress on molecular biological methods and focus on the application of high-throughput sequencing technology in the identification of gut microbiota.This revolutionary method for intestinal flora identification heralds a new chapter in our understanding of the microbial world.
Base editing,the targeted introduction of point mutations into cellular DNA,holds promise for improving genome-scale functional genome screening to single-nucleotide resolution.Current efforts in prokaryotes,however,remain confined to loss-of-function screens using the premature stop codons-mediated gene inactivation library,which falls far short of fully releasing the potential of base editors.Here,we developed a base editor-mediated functional single nucleotide variant screening pipeline in Escherichia coli.We constructed a library with 31,123 sgRNAs targeting 462 stress response-related genes in E.coli,and screened for adaptive mutations under isobutanol and furfural selective conditions.Guided by the screening results,we successfully identified several known and novel functional mutations.Our pipeline might be expanded to the optimization of other phenotypes or the strain engineering in other microorganisms.
This narrative review aimed to have an algorithmic approach to microphthalmos by a systematic search.The definition can be related to a number of special phenotypes.In the more challenging cases of complex microphthalmos,relative anterior microphthalmos,and nanophthalmos,the surgeon can approach these cases more safely if they have a deep understanding of the anatomical variations and ideal formulae for intraocular lens computation and knows how to avoid intra-and post-operative complications.In this article,we review the criteria by which we recognize and describe pre-,intra-,and post-operative considerations,as well as discuss the ideal intraocular lenses for microphthalmos,given the intricate varieties of small eye phenotypes.
Sana NiaziSorcha NíDhubhghaillFarideh DoroodgarZisis GatzioufasMohammad Hossein Dehghan
●AIM:To establish a classification for congenital cataracts that can facilitate individualized treatment and help identify individuals with a high likelihood of different visual outcomes.●METHODS:Consecutive patients diagnosed with congenital cataracts and undergoing surgery between January 2005 and November 2021 were recruited.Data on visual outcomes and the phenotypic characteristics of ocular biometry and the anterior and posterior segments were extracted from the patients’medical records.A hierarchical cluster analysis was performed.The main outcome measure was the identification of distinct clusters of eyes with congenital cataracts.●RESULTS:A total of 164 children(299 eyes)were divided into two clusters based on their ocular features.Cluster 1(96 eyes)had a shorter axial length(mean±SD,19.44±1.68 mm),a low prevalence of macular abnormalities(1.04%),and no retinal abnormalities or posterior cataracts.Cluster 2(203 eyes)had a greater axial length(mean±SD,20.42±2.10 mm)and a higher prevalence of macular abnormalities(8.37%),retinal abnormalities(98.52%),and posterior cataracts(4.93%).Compared with the eyes in Cluster 2(57.14%),those in Cluster 1(71.88%)had a 2.2 times higher chance of good best-corrected visual acuity[<0.7 logMAR;OR(95%CI),2.20(1.25–3.81);P=0.006].●CONCLUSION:This retrospective study categorizes congenital cataracts into two distinct clusters,each associated with a different likelihood of visual outcomes.This innovative classification may enable the personalization and prioritization of early interventions for patients who may gain the greatest benefit,thereby making strides toward precision medicine in the field of congenital cataracts.
Commonly afected in early-life population,the impact of allergic phenotypes on mid-or late-life health is less discussed.This study is to explore the association of allergic phenotypes including atopic dermatitis(AD),asthma,eosinophils count(EC),and sarcopenia.We conducted observational studies and mendelian randomization(MR)analysis based on UK Biobank(UKB),the China Health and Retirement Longitudinal Study(CHARLS)and data from genome-wide association study(GWAS).Based on the UKB data,AD,asthma and EC were positively correlated with pre-sarcopenia and decreased skeletal muscle mass index and hand grip in fully adjusted model.Asthma and EC were signifcantly associated with sarcopenia while AD was marginally associated(p=0.095).Based on the CHARLS cohort,asthma signifcantly added 109.4%risk for pre-sarcopenia in adjusted model(relative risk=2.094;p=0.002),respectively.Both asthma(β=0.100,p=0.006)and EC(β=0.023,p=0.017)exerted signifcantly casual efects on pre-sarcopenia.However,as for sarcopenia,merely EC exhibited a signifcantly casual efect(β=0.005,p=0.048).Signifcant casual efects of AD(β=–0.027,p=0.003),asthma(β=–0.029,p=0.027)and EC(β=–0.041,p<0.001)on decreased appendicular lean mass(ALM)were observed using the inverse-variance weighted method and the Mendelian randomization pleiotropy residual sum and outlier(MR-PRESSO)method.Our results revealed a contributory role of AD,asthma and EC on sarcopenia,especially in terms of decreased ALM,an indicator for sarcopenia diagnosis.The fndings of our study will raise the awareness of preventing aging-related disorders or geriatric syndromes among allergic populations.
