The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study.

Background/aims: X-linked retinitis pigmentosa (XLRP) is considered one of the most severe forms of retinitis pigmentosa (RP), accounting for 5-15% of all RP cases and primarily affecting males. However, the real-world humanistic impacts of this disease on patients are poorly investigated, especially with respect to burdens faced by patients with varying disease severities.

Methods: EXPLORE XLRP-2 was an exploratory, multicentre, non-interventional study.

Early life exposures and risk of inflammatory bowel disease: A nested case-control study in Quebec, Canada.

Background: Early life factors for inflammatory bowel disease are likely to impact the gut microbiota.

Aim: We investigated the associations between early exposures and inflammatory bowel disease.

Methods: This case-control study was nested within the CO·MMUNITY cohort.

Unraveling the quality of implementation of sexual and reproductive health projects among adolescents and youths in low-income regions: a case study of the JADES 2 project in Niger in 2021.

Introduction: many young people globally grapple with early pregnancies and sexually transmitted diseases (STD), especially in regions like Africa and particularly Niger due to high poverty rates. Various sexual and reproductive health (SRH) projects aim to address these challenges. This study evaluated the JADES 2 project's implementation of SRH services provided focusing on the quality of these services in Niger in 2021.

Development of a cancer risk model and mobile health application to inform the public about cancer risks and risk factors.

Objective: To develop and evaluate a mobile health application, the Cancer Risk Calculator (CRC), aimed at improving public health literacy by providing personalized information on cancer risks and preventive measures.

Materials And Methods: The CRC was developed through a comprehensive process involving the identification of necessary content, integration of average cancer risks using data from reliable sources, creation of a novel risk model emphasizing modifiable factors, and the application's development for easy access. The application covers 38 cancer types, 18 subtypes, and approximately 790 risk factors, utilizing data from the Surveillance, Epidemiology, and End Results Program and scientific literature.

Perception of Canadian ophthalmologists on immediately sequential bilateral cataract surgery: insights and implications.

Objective: To evaluate the perception of immediately sequential bilateral cataract surgery (ISBCS) among Canadian ophthalmologists.

Design: An anonymous survey was sent to all active members of the Canadian Ophthalmological Society.

Methods: Basic demographic information, cataract surgery practice patterns, and perceived advantages, disadvantages, and concerns regarding ISBCS were collected from respondents.

Development and reliability of the coding system evaluating maternal sensitivity to social interactions with 34- to 36-week postmenstrual age preterm infants.

Unlabelled: Maternal sensitivity (MS), the ability to perceive and synchronously respond to the social signals (SSs), is affected by prematurity. The development of early supportive psychotherapy to foster MS, before discharge of the infant from the neonatal intensive care unit (NICU) is a major challenge in the prevention of subsequent developmental and mental disorders in the child. There are currently no reliable methods for evaluating MS to social interactions with very to moderate preterm infants.

Assessment of Compliance and Impact of the COVID-19 RSNA Recommendations on Radiology Departments: A French Survey.

See also the editorial by Tuite in this issue.

Safety and immunogenicity of the live attenuated intranasal pertussis vaccine BPZE1: a phase 1b, double-blind, randomised, placebo-controlled dose-escalation study.

Background: Long-term protection and herd immunity induced by existing pertussis vaccines are imperfect, and a need therefore exists to develop new pertussis vaccines. This study aimed to investigate the safety, colonisation, and immunogenicity of the new, live attenuated pertussis vaccine, BPZE1, when given intranasally.

Methods: This phase 1b, double-blind, randomised, placebo-controlled, dose-escalation study was done at the phase 1 unit, Karolinska Trial Alliance, Karolinska University Hospital, Stockholm, Sweden.

Ectopic pheochromocytoma or paraganglioma of the ZUCKERKANDL organ: A case report and review of the literature.

Introduction: Paraganglioma of the ZUCKERKANDL organ are rare. Diagnosis is based on clinical, radiological and biological arguments. We report a case to describe our surgical procedure and insist on the necessity of preoperative diagnosis.

The ORC ubiquitin ligase OBI1 promotes DNA replication origin firing.

DNA replication initiation is a two-step process. During the G1-phase of the cell cycle, the ORC complex, CDC6, CDT1, and MCM2-7 assemble at replication origins, forming pre-replicative complexes (pre-RCs). In S-phase, kinase activities allow fork establishment through (CDC45/MCM2-7/GINS) CMG-complex formation.

RecQ helicases in the malaria parasite Plasmodium falciparum affect genome stability, gene expression patterns and DNA replication dynamics.

The malaria parasite Plasmodium falciparum has evolved an unusual genome structure. The majority of the genome is relatively stable, with mutation rates similar to most eukaryotic species. However, some regions are very unstable with high recombination rates, driving the generation of new immune evasion-associated var genes.

Hysteroscopic enlargement metroplasty for T-shaped uterus: 24 years' experience at the Strasbourg Medico-Surgical and Obstetrical Centre (CMCO).

Study Question: What is the impact of hysteroscopic enlargement metroplasty for T-shaped uterus on the live birth rate?

Summary Answer: Performing enlargement metroplasty appears to improve the obstetrical prognosis and fertility in patients with a T-shaped uterus.

What Is Known Already: T-shaped uterus is linked to an excess of myometrium in the uterine walls giving rise to a subcornual constriction ring which causes dysmorphism and hypoplasia of the uterine cavity. It is commonly associated with infertility or a sequence of repeated miscarriages.

Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.

The aim of this study was the evaluation of the safety and efficacy of unilateral subretinal injection of the adeno-associated vector (AAV) serotypes 2 and 4 (AAV2/4) RPE65-RPE65 vector in patients with Leber congenital amaurosis (LCA) associated with RPE65 gene deficiency. We evaluated ocular and general tolerance and visual function up to 1 year after vector administration in the most severely affected eye in nine patients with retinal degeneration associated with mutations in the RPE65 gene. Patients received either low (1.

Identification of the centromeres of : revealing the hidden pieces.

affects millions of people worldwide. Its genome undergoes constitutive mosaic aneuploidy, a type of genomic plasticity that may serve as an adaptive strategy to survive distinct host environments. We previously found high rates of asymmetric chromosome allotments during mitosis that lead to the generation of such ploidy.

Single-molecule analysis reveals that DNA replication dynamics vary across the course of schizogony in the malaria parasite Plasmodium falciparum.

The mechanics of DNA replication and cell cycling are well-characterized in model organisms, but less is known about these basic aspects of cell biology in early-diverging Apicomplexan parasites, which do not divide by canonical binary fission but undergo unconventional cycles. Schizogony in the malaria parasite, Plasmodium, generates ~16-24 new nuclei via independent, asynchronous rounds of genome replication prior to cytokinesis and little is known about the control of DNA replication that facilitates this. We have characterised replication dynamics in P.

Single-molecule analysis of DNA replication reveals novel features in the divergent eukaryotes Leishmania and Trypanosoma brucei versus mammalian cells.

Leishmania and Trypanosoma are unicellular parasites that possess markedly original biological features as compared to other eukaryotes. The Leishmania genome displays a constitutive 'mosaic aneuploidy', whereas in Trypanosoma brucei, the megabase-sized chromosomes are diploid. We accurately analysed DNA replication parameters in three Leishmania species and Trypanosoma brucei as well as mouse embryonic fibroblasts (MEF).

The nucleoporin Mlp2 is involved in chromosomal distribution during mitosis in trypanosomatids.

Nucleoporins are evolutionary conserved proteins mainly involved in the constitution of the nuclear pores and trafficking between the nucleus and cytoplasm, but are also increasingly viewed as main actors in chromatin dynamics and intra-nuclear mitotic events. Here, we determined the cellular localization of the nucleoporin Mlp2 in the 'divergent' eukaryotes Leishmania major and Trypanosoma brucei. In both protozoa, Mlp2 displayed an atypical localization for a nucleoporin, essentially intranuclear, and preferentially in the periphery of the nucleolus during interphase; moreover, it relocated at the mitotic spindle poles during mitosis.

Prevalence, correlates and outcomes of gastric antral vascular ectasia in systemic sclerosis: a EUSTAR case-control study.

Objective: To estimate the prevalence, determine the subgroups at risk, and the outcomes of patients with systemic sclerosis (SSc) and gastric antral vascular ectasia (GAVE).

Methods: We queried the European League Against Rheumatism Scleroderma Trials and Research (EUSTAR) network for the recruitment of patients with SSc-GAVE. Each case was matched for cutaneous subset and disease duration with 2 controls with SSc recruited from the same center, evaluated at the time the index case made the diagnosis of GAVE.

Pancreaticoduodenectomy following chemoradiotherapy for locally advanced adenocarcinoma of the pancreatic head.

Objectives: The aim of this study was to assess oncological outcomes in patients treated with pancreaticoduodenectomy for advanced pancreatic head adenocarcinoma after preoperative chemoradiotherapy and to compare these with outcomes in patients treated with surgery alone.

Methods: From 2004 to 2009, patients treated with pancreaticoduodenectomy for pancreatic head adenocarcinoma were included in a retrospective comparative study. Patients with locally advanced adenocarcinoma were treated with preoperative chemoradiotherapy (CRT group) and were compared with those treated with surgery alone (SURG group).

Familial Kufs' disease presenting as a progressive myoclonic epilepsy.

Kufs' disease is the adult form of a group of disorders referred to as neuronal ceroid-lipofuscinosis or Batten's disease. We report here the clinical and anatomopathological features of two young brothers presenting with a progressive myoclonic epilepsy corresponding to type A of the disease according to Berkovic. The first clinical manifestations occurred before 20 years of age.

Plasma amino acid concentrations in elderly patients with protein energy malnutrition.

Objective: to compare amino acid concentrations in healthy and malnourished elderly patients.

Method: plasma amino acid concentrations were examined in 24 men and women (80-100 years of age) with protein energy malnutrition (PEM) and compared with those of 44 healthy, similarly-aged controls. Plasma samples were determined by using cation exchange columns with ninhydrin detection in an high performance liquid chromatography system.