Influence of Hemoglobin S Haplotypes on the Responses to Hydroxyurea Treatment in Children with Sickle Cell Disease in Abidjan, Côte d’Ivoire

Background: In Côte d’Ivoire so far, the circulating haplotypes have been inferred on the phenotypic profiling of SCD patients. The impact of the circulating haplotypes on the use of Hydroxyurea has not been assessed yet. Therefore the objective of this study is to identify in Abidjan the HbS haplotypes that modulate HU treatment responses. Methods: In a cross-sectional descriptive and analytical study, children aged 5 to 15 years with SCD, and carrying the hemoglobin phenotypes SSFA2 and SFA2, were recruited into a HU treatment cohort. Various parameters on the haplotypes and the outcomes of the treatment were analyzed. Results: Thirty nine children with SCD were included. The phenotypic profile of the cohort was 86.6% of SSFA2 and 15.4% of SFA2. Three haplotypes were found, the Benin haplotype, the Senegal haplotype, and an atypical one. The participants belonged to three genotypes, Benin/atypical (64.1%), Benin/Senegal (33.3%) and Senegal/Senegal (2.6%). Overall, HU treatment was successful in all haplotypes with 12 out of 39 patients failing treatment after 12 months in the Benin haplotype group. The association between HU treatment success and the Benin haplotype was found in terms of the decrease in the number of white blood cells and the students missing class. Conclusion: The study revealed that inferring haplotype based on the phenotypic profile could be inaccurate. The proportion of atypical haplotype that were not previously described in Côte d’Ivoire was high. All the haplotypes seemed to be associated with HU treatment success but some patients with Benin haplotype did not respond well.

Bridging long gap peripheral nerve injury using skeletal muscle-derived multipotent stem cells

Long gap peripheral nerve injuries usually reulting in life-changing problems for patients. Skeletal muscle derived-multipotent stem cells （Sk-MSCs） can differentiate into Schwann and perineurial/endoneurial cells, vascular relating pericytes, and endothelial and smooth muscle cells in the damaged peripheral nerve niche. Application of the Sk-MSCs in the bridging conduit for repairing long nerve gap injury resulted favorable axonal regeneration, which showing superior effects than gold standard therapy--healthy nerve autograft. This means that it does not need to sacrifice of healthy nerves or loss of related functions for repairing peripheral nerve injury.

FISH studies of chromosome abnormalities in germ cells and its relevance in reproductive counseling

Chromosome abnormalities are one of the major causes of human infertility. In infertile males, abnormal karyotypes are more frequent than in the general population. Furthermore, meiotic disorders affecting the germ cell-line have been observed in men with normal somatic karyotypes consulting for infertility. In both cases, the production of unbalanced spermatozoa has been demonstrated. Basically addressed to establish reproductive risks, fluorescence in situ hybridization （FISH） on decondensed sperm heads has become the most frequently used method to evaluate the chromosomal constitution of spermatozoa in carriers of numerical sex chromosome abnormalities, carriers of structural chromosome reorganizations and infertile males with normal karyotype. The aim of this review is to present updated figures of the information obtained through sperm FISH studies with an emphasis on its clinical significance. Furthermore, the incorporation of novel FISH-based techniques （Multiplex-FISH; Multi-FISH） in male infertility studies is also discussed. （Asian J Androl 2005 Sep; 7： 227-236）

Intermittent compressive force induces cell cycling and reduces apoptosis in embryoid bodies of mouse induced pluripotent stem cells

In vitro manipulation of induced pluripotent stem cells(iPSCs) by environmental factors is of great interest for three-dimensional(3D) tissue/organ induction. The effects of mechanical force depend on many factors, including force and cell type. However,information on such effects in i PSCs is lacking. The aim of this study was to identify a molecular mechanism in i PSCs responding to intermittent compressive force(ICF) by analyzing the global gene expression profile. Embryoid bodies of mouse i PSCs, attached on a tissue culture plate in 3D form, were subjected to ICF in serum-free culture medium for 24 h. Gene ontology analyses for RNA sequencing data demonstrated that genes differentially regulated by ICF were mainly associated with metabolic processes,membrane and protein binding. Topology-based analysis demonstrated that ICF induced genes in cell cycle categories and downregulated genes associated with metabolic processes. The Kyoto Encyclopedia of Genes and Genomes database revealed differentially regulated genes related to the p53 signaling pathway and cell cycle. q PCR analysis demonstrated significant upregulation of Ccnd1, Cdk6 and Ccng1. Flow cytometry showed that ICF induced cell cycle and proliferation, while reducing the number of apoptotic cells. ICF also upregulated transforming growth factor β1(Tgfb1) at both m RNA and protein levels, and pretreatment with a TGF-β inhibitor(SB431542) prior to ICF abolished ICF-induced Ccnd1 and Cdk6 expression. Taken together,these findings show that TGF-β signaling in i PSCs enhances proliferation and decreases apoptosis in response to ICF, that could give rise to an efficient protocol to manipulate i PSCs for organoid fabrication.

The role of Bax and Bak in cell death in the nervous system

It is well recognized that cell death plays an important role during the maturation of the nervous system as well as in many neurological diseases. Apoptosis has been shown to be important particulary during embryogenesis as a means to eliminating unwanted neurons. Severed axons have also been shown to degenerate in an organized fashion termed Wallerian degeneration. Excitotoxic death is another form of cell death in the nervous system which is induced by high concentrations of neurotransmitters such as glutamate. It is not known whether the same molecular mechanisms underlie these different forms of cell death in the nervous system. The Bax-/-Bak-/- double knock-out mouse provides an ideal system to

New evidence for a role of Bisphenol A in cell integrity.Implications in the human population

Bisphenol A(BPA)is a xenoestrogen known for its implications for the endocrine systems and several other organs,including the kidneys.Recent renal studies have shown that BPA can induce alterations of the cytoskeleton and cell adhesion mechanisms such as a podocytopathy with proteinuria and hypertension,alterations involved in the progression of renal diseases.These data and the fact that BPA is known to be present in the urine of almost the entire population strongly suggest the critical need to reevaluate BPA exposures considered safe.

种子顽拗性:最新评价(英文)

根据种子的脱水行为 ,可以把种子分为正常性、顽拗性和中间性种子三种类型。种子脱水耐性和脱水敏感性的鉴定是制定种子的贮藏策略和物种基因资源长期保存的依据。除了物种的内在特性外 ,种子的发育状态、脱水速率、脱水时和重新水合时的环境是影响种子脱水耐性的重要因子。种子的存活率、电解质渗漏速率和存活种子的萌发生长速率是衡量种子脱水耐性的良好的综合参数。种子的脱水耐性是一种数量性状 ,用“临界含水量”的概念来判断是不正确的 ,且在评价种子顽拗性中引起了一些混乱。

A Prospective Survey Comparing Patients’ Experience of a Nurse-Led Clinic and Consultant-Led Clinic for Surveillance of Patients with Dilatation of the Intrathoracic Aorta

Background: Increasing workload in consultant-led clinics often means patients to wait a long time for clinic appointments. To address this, there is an increasing trend in developing nurse-led clinics across many specialities in the National Health Service. This study aims to assess whether the implementation of a nurse-led clinic in thoracic aortic surgery will optimise the utilisation of health care services and improve overall patient satisfaction. Methods: 80 follow-up patients were asked to complete a questionnaire following their appointment in an aortic clinic, which was led either by a consultant (n = 40) or an aortic specialist nurse (n = 40). All patients seen by a nurse in the clinic were assessed by a consultant surgeon prior to the clinic for suitability. No new patients were seen by a nurse. Any patient with an aortic dimension of 5 cm or greater was seen by the consultant. If there were any complicated clinical features, the patient was seen in the consultant-led clinic. Patients were asked questions about their time spent with the respective health care professionals across 12 categories (punctuality, preparedness, understanding of concerns, clarity of speech, listening, respect, explaining, letting you talk, putting you at ease, emotional support, advice and advice for next follow-up). Patients rated each category using an ordinal scale from 0 - 10. Results: Patient scores were greater in nurse-led clinics compared to consultant-led clinics across a number of categories although only punctuality reached significance (mean 9.2 vs. 6.8, p 0.05). Conclusion: Patients were highly satisfied with the nurse-led clinic across all categories, with greater satisfaction for punctuality. These findings suggest that a nurse-led clinic can be implemented for the management of carefully selected thoracic aortic surgery patient without reduction in patient satisfaction.

The actin-bundling protein Fascin-1 modulates ciliary signalling

Primary cilia are microtubule-based cell organelles important for cellular communication. Since they are involved in the regulation of numerous signalling pathways, defects in cilia development or function are associated with genetic disorders, collectively called ciliopathies. Besides their ciliary functions, recent research has shown that several ciliary proteins are involved in the coordination of the actin cytoskeleton. Although ciliary and actin phenotypes are related, the exact nature of their interconnection remains incompletely understood. Here, we show that the protein BBS6, associated with the ciliopathy Bardet–Biedl syndrome, cooperates with the actin-bundling protein Fascin-1 in regulating filopodia and ciliary signalling. We found that loss of Bbs6 affects filopodia length potentially via attenuated interaction with Fascin-1. Conversely, loss of Fascin-1 leads to a ciliary phenotype, subsequently affecting ciliary Wnt signalling, possibly in collaboration with BBS6. Our data shed light on how ciliary proteins are involved in actin regulations and provide new insight into the involvement of the actin regulator Fascin-1 in ciliogenesis and cilia-associated signalling. Advancing our knowledge of the complex regulations between primary cilia and actin dynamics is important to understand the pathogenic consequences of ciliopathies.

Chromosome heteromorphisms: do they entail a reproductive risk for male carriers?

Dear Editor,Chromosome heteromorphisms are described as variations in size and morphology at specific regions that can be detected through classical banding methods.They are mitotically stable variants usually present in a heterozygous state(only one of the homologous chromosomes is heteromorphic).In humans,the most commonly detected heteromorphisms involve the heterochromatic regions of chromosomes 1,9,16,and Y(designated as lqh,9qh,16qh,and Yqh,respectively),and the short-arms,satellites,or stalks of the acrocentric chromosomes 13,14,15,21,and 22(e.g,for chromosome 13 designated as 13p.13ps,and 13pstk,respectively).Pericentric inversions involving the heterochromatic region of chromosomes l,9,and Y are also frequently observed.

Team experience of nasopharyngeal samples reception,decontamination,and sorting during the COVID-19 pandemic(2020)at Institut Pasteur Côte d’Ivoire

Molecular testing sensitivity,which allows for early diagnosis of the 2019 coronavirus disease(COVID-19),could be affected by sample quality,storage,and transportation timeframe to the laboratory,along with bias related to the pre-analytic phase.The present study reports the selection and decontamination of nasopharyngeal samples during COVID-19 management at the Institut Pasteur Côte d’Ivoire.The objective of this work was to organize sample reception management and report a complete picture of sample selection and decontamination in the context of diagnosis activity decentralization.An administrative note creating the selection and decontamination unit of nasopharyngeal samples initiated activities in May 2020.The required human resources and necessary materials were identified and put in place.Daily activity consisted of receiving,sorting,decontaminating,and sending nasopharyngeal samples to different diagnostic laboratories.Nonconformities were recorded monthly.After a six-month period of activities,from a total amount of 11,401 containers received and decontaminated,174,085 samples were selected.A proportion of 92.0%of these specimens met the diagnostic standards,while 7.0%that were found acceptable showed minor irregularities.Nevertheless,a rate of 1.0%of samples with major abnormalities could not be used for COVID-19 testing and,therefore,were rejected.Additionally,the non-conformity rate was reduced by 2.4%after the first term activity.Sorting and decontamination of nasopharyngeal samples are crucial steps in biosafety optimization for the technical staff and quality improvement of sample care.

Kindlin-1 drives early steps of breast cancer metastasis

Dear Editor,Kindlin-1 plays a major role in the activation of integrins[1].Kindlin-1 is often overexpressed in cancers.Kindlin-1 overexpression has been associated with a higher propensity of breast cancer patients to metastasize to the lungs[2,3].Furthermore,Kindlin-1 depletion in mouse models was found to inhibit tumor growth and lung metastasis[3,4].However,the underlying mechanisms remain poorly explored.