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Pediatric Critical Care Medicine : a... Jul 2024
Topics: Humans; Periodicals as Topic; Pediatrics; COVID-19; Critical Care
PubMed: 38958548
DOI: 10.1097/PCC.0000000000003545 -
Pediatric Critical Care Medicine : a... Jul 2024
Topics: Critical Care; Periodicals as Topic; Humans; Pediatrics; History, 20th Century; History, 21st Century; Child
PubMed: 38958547
DOI: 10.1097/PCC.0000000000003546 -
Advanced Science (Weinheim,... Jul 2024Meiosis is a specialized cell division process that generates gametes for sexual reproduction. However, the factors and underlying mechanisms involving meiotic...
Meiosis is a specialized cell division process that generates gametes for sexual reproduction. However, the factors and underlying mechanisms involving meiotic progression remain largely unknown, especially in humans. Here, it is first showed that HSF5 is associated with human spermatogenesis. Patients with a pathogenic variant of HSF5 are completely infertile. Testicular histologic findings in the patients reveal rare postmeiotic germ cells resulting from meiotic prophase I arrest. Hsf5 knockout (KO) mice confirms that the loss of HSF5 causes defects in meiotic recombination, crossover formation, sex chromosome synapsis, and sex chromosome inactivation (MSCI), which may contribute to spermatocyte arrest at the late pachytene stage. Importantly, spermatogenic arrest can be rescued by compensatory HSF5 adeno-associated virus injection into KO mouse testes. Mechanistically, integrated analysis of RNA sequencing and chromatin immunoprecipitation sequencing data revealed that HSF5 predominantly binds to promoters of key genes involved in crossover formation (e.g., HFM1, MSH5 and MLH3), synapsis (e.g., SYCP1, SYCP2 and SYCE3), recombination (TEX15), and MSCI (MDC1) and further regulates their transcription during meiotic progression. Taken together, the study demonstrates that HSF5 modulates the transcriptome to ensure meiotic progression in humans and mice. These findings will aid in genetic diagnosis of and potential treatments for male infertility.
PubMed: 38958533
DOI: 10.1002/advs.202402412 -
American Journal of Medical Genetics.... Jul 2024Noonan syndrome (NS) is an autosomal dominant condition characterized by facial dysmorphism, congenital heart disease, development delay, growth retardation and...
Noonan syndrome (NS) is an autosomal dominant condition characterized by facial dysmorphism, congenital heart disease, development delay, growth retardation and lymphatic disease. It is caused by germline pathogenic variants in genes encoding proteins in the Ras/mitogen-activated protein kinase signaling pathway. Nerve enlargement is not generally considered as a feature of NS, although some cases have been reported. High-resolution nerve ultrasound enables detailed anatomical assessment of peripheral nerves and can show enlarged nerves. This retrospective cohort study aims to describe the sonographic findings of patients with NS performed during a 1-year time period. Data on the degree of enlargement, the relation to increasing age, pain in extremities, genotype on the gene level and clinical features were collected. Twenty-nine of 93 patients visiting the NS Center of Expertise of the Radboud University Medical Center Nijmegen underwent high-resolution ultrasound. In 24 patients (83%) nerve enlargement was found. Most of them experienced pain. We observed a weak correlation with increasing age and the degree of nerve enlargement but no association with pain, genotype at the gene level or clinical features. This study shows that patients with NS have a high predisposition for sonographic nerve enlargement and that the majority experience pain.
PubMed: 38958480
DOI: 10.1002/ajmg.a.63810 -
Blood Jul 2024Primary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder associated with autosomal recessive variants in genes required for perforin-mediated...
Primary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder associated with autosomal recessive variants in genes required for perforin-mediated lymphocyte cytotoxicity. A rapid diagnosis is crucial for successful treatment. Although defective cytotoxic T lymphocyte (CTL) function causes pathogenesis, quantification of natural killer (NK) cell exocytosis triggered by K562 target cells currently represents a standard diagnostic procedure for primary HLH. We have prospectively evaluated different lymphocyte exocytosis assays in 213 patients referred for evaluation for suspected HLH and related hyperinflammatory syndromes. A total of 138 patients received a molecular diagnosis consistent with primary HLH. Compared to routine K562 cell-based assays, assessment of Fc receptor-triggered NK-cell and T cell receptor-triggered CTL exocytosis displayed higher sensitivity and improved specificity for the diagnosis of primary HLH, with these assays combined providing a sensitivity of 100% and specificity of 98.3%. By comparison, NK-cell exocytosis following K562 target cell stimulation displayed a higher inter-individual variability, in part explained by differences in NK-cell differentiation or large functional reductions following shipment. We thus recommend combined analysis of T cell receptor-triggered CTL and Fc receptor-triggered NK-cell exocytosis for the diagnosis of patients with suspected familial HLH or atypical manifestations of congenital defects in lymphocyte exocytosis.
PubMed: 38958468
DOI: 10.1182/blood.2024024499 -
Turkiye Parazitolojii Dergisi Jun 2024In patients with end-stage kidney disease, kidney transplantation is the kidney replacement therapy option that provides the most successful survival. However,...
OBJECTIVE
In patients with end-stage kidney disease, kidney transplantation is the kidney replacement therapy option that provides the most successful survival. However, immunosuppression agents administered after kidney transplantation can increase the risk of opportunistic infections. Microsporidia are obligate intracellular pathogens that can be fatal in immunosuppressed patients. The present study aimed to determine the prevalence of microsporidia in kidney transplantation recipients and the molecular characterization of the detected species.
METHODS
To evaluate the prevalence of renal microsporidiosis in kidney transplant recipients, the urine samples from a total of 325 patients were analyzed by real-time and nested polymerase chain reaction for spp. and .
RESULTS
Only one (0.4%) sample from the adult patient was positive for the species, while no positivity was found in pediatric patients. It was determined as by gene region sequence analysis. A microsporidia species obtained from humans in Türkiye has been characterized for the first time and registered in GenBank.
CONCLUSION
Our epidemiological results show that the prevalence of renal microsporidiosis in kidney transplant recipients is very low. In addition, as a result of the phylogenetic analysis of the detected isolate, it was observed that it was 100% identical to the isolates reported from dogs in Kayseri, Türkiye. This situation provided essential data regarding the zoonotic transmission dynamics of microsporidia.
Topics: Humans; Kidney Transplantation; Prevalence; Male; Adult; Encephalitozoonosis; Female; Encephalitozoon; Child; Turkey; Microsporidiosis; Middle Aged; Phylogeny; Adolescent; Young Adult; Polymerase Chain Reaction; Immunocompromised Host; Child, Preschool; Aged; Enterocytozoon; Animals
PubMed: 38958436
DOI: 10.4274/tpd.galenos.2024.05025 -
Developmental Neurorehabilitation Jul 2024To assess the psychometric properties of available developmental assessments for infants, aged 0-24 months. (Review)
Review
PURPOSE
To assess the psychometric properties of available developmental assessments for infants, aged 0-24 months.
METHODS
A scoping review was conducted using the PRISMA Extension for Scoping Reviews as a guideline. The following four databases: Medline, CINAHL, Embase, and Web of Science were used to retrieve articles. Assessments were analyzed for psychometric properties of reliability and validity. : Fifteen developmental assessments were identified and evaluated based on their psychometric properties from 20 number of articles.
RESULTS
Three assessments including Bayley Scales of Infant and Toddler Development 3rd Edition (BSID-III), Caregiver Reported Early Development Instruments (CREDI), and Ages and Stages Questionnaire 3rd Edition (ASQ-3), were identified to have the most supporting evidence.
CONCLUSION
This study provided clinicians with an updated list of all-encompassing infant developmental assessments. Certain assessments require additional evidence regarding their psychometric properties to substantiate their clinical utility.
PubMed: 38958340
DOI: 10.1080/17518423.2024.2374534 -
Child: Care, Health and Development Jul 2024Children have a right to participate in matters affecting their lives. With increasing regularity, children's perspectives are being sought regarding their health and...
BACKGROUND
Children have a right to participate in matters affecting their lives. With increasing regularity, children's perspectives are being sought regarding their health and health care experiences. Though there is evidence that children find play to be one of the 'best' aspects of hospitalisation, studies rarely focus on children's perspectives on play in hospital.
METHODS
This qualitative study explored children's lived experiences of play during hospitalisation. Over five months, ethnographic observations were conducted on a paediatric oncology ward as well as interviews with 16 children ages 3-13 years.
RESULTS
Using interpretative phenomenological analysis, children's expressions and experiences illuminated three key points: safety and comfort are integral to children feeling able to play in hospital; the value and efficacy of play is decided by children; and that play is a way for patients to be (and be treated as) children first.
CONCLUSION
Hospitals can only be child-friendly if children find them friendly. Listening to and integrating children's perspectives in the discourse around the importance of play in hospital is essential for respecting children's rights and delivering person-centred paediatric healthcare.
Topics: Humans; Child; Male; Female; Play and Playthings; Qualitative Research; Child, Preschool; Adolescent; Child, Hospitalized; Hospitalization
PubMed: 38958339
DOI: 10.1111/cch.13287 -
The Journal of Antimicrobial... Jul 2024The measurement of VOCs release in the headspace of a bacterial culture represents a new approach to rapidly assess antimicrobial susceptibility. Herein, we evaluated...
OBJECTIVES
The measurement of VOCs release in the headspace of a bacterial culture represents a new approach to rapidly assess antimicrobial susceptibility. Herein, we evaluated the diagnostic performance of the VITEK® REVEAL™ system directly from a collection of Gram-negative positive blood cultures.
MATERIALS AND METHODS
One hundred and twenty-eight positive blood cultures were included in the analysis (Enterobacterales, n = 95; Pseudomonas aeruginosa, n = 21; Acinetobacter baumannii complex, n = 12). Samples were processed using VITEK® REVEAL™ according to the manufacturer's recommendations, and MICs of 22 antimicrobials were compared with those obtained using reference methods. Categorical agreement (CA), essential agreement (EA) and categorical errors were calculated.
RESULTS
Overall, 2220 strain/antibiotic pair combinations were analysed. Of these, most were classified as resistant by reference antimicrobial susceptibility testing (1091/2220; 48.7%). The overall CA and EA were 97.6% and 97.7%, respectively. CA ranged from 97.5% in Enterobacterales to 97.9% in both P. aeruginosa and A. baumannii complex. The overall number of categorical discrepancies were: 18 very major errors (1.6%), 13 major errors (1.2%) and 22 minor errors (2.4%). EA ranged from 95.2% in P. aeruginosa to 98.1% in Enterobacterales. Screening test for ESBL phenotype was positive, indeterminate and negative in 13.7%, 32.6% and 27.4% of Enterobacterales isolates tested by both VITEK® REVEAL™ and the reference method, showing 100% CA.
CONCLUSIONS
VITEK® REVEAL™ represents a reliable tool to obtain antimicrobial susceptibility results of the main Gram-negative species directly from positive blood cultures with time to results of less than 8 h.
PubMed: 38958300
DOI: 10.1093/jac/dkae219 -
Urogynecology (Philadelphia, Pa.) Jul 2024Feasibility of home urogenital microbiome specimen collection is unknown.
IMPORTANCE
Feasibility of home urogenital microbiome specimen collection is unknown.
OBJECTIVES
This study aimed to evaluate successful sample collection rates from home and clinical research centers.
STUDY DESIGN
Adult women participants enrolled in a multicentered cohort study were recruited to an in-person research center evaluation, including self-collected urogenital samples. A nested feasibility substudy evaluated home biospecimen collection prior to the scheduled in-person evaluation using a home collection kit with written instructions, sample collection supplies, and a Peezy™ urine collection device. Participants self-collected samples at home and shipped them to a central laboratory 1 day prior to and the day of the in-person evaluation. We defined successful collection as receipt of at least one urine specimen that was visibly viable for sequencing.
RESULTS
Of 156 participants invited to the feasibility substudy, 134 were enrolled and sent collection kits with 89% (119/134) returning at least 1 home urine specimen; the laboratory determined that 79% (106/134) of these urine samples were visually viable for analysis. The laboratory received self-collected urine from the research center visit in 97% (115/119); 76% (91/119) were visually viable for sequencing. Among 401 women who did not participate in the feasibility home collection substudy, 98% (394/401) self-collected urine at the research center with 80% (321/401) returned and visibly viable for sequencing.
CONCLUSIONS
Home collection of urogenital microbiome samples for research is feasible, with comparable success to clinical research center collection. Sample size adjustment should plan for technical and logistical difficulties, regardless of specimen collection site.
PubMed: 38958286
DOI: 10.1097/SPV.0000000000001544