Publications by authors named "GAUSSEN"

Background: Despite bovine viral diarrhoea virus and Chlamydia pecorum being important endemic diseases of cattle, there are limited reports of theirco-occurrence.

Case Report: Several 12-18-week-old, weaned Hereford calves presented with ill-thriftiness and neurological signs on a mixed cattle and sheep farm in South Australia in July 2021. Immune suppression resulting from transient infection with bovine viral diarrhoea virus (BVDV) is implicated in predisposing to infection with Chlamydia pecorum, the causative agent of sporadic bovine encephalopathy (SBE).

View Article and Find Full Text PDF
Article Synopsis
  • Secondary transmission of variant Creutzfeldt-Jakob disease (vCJD) primarily occurs through blood transfusions and plasma-derived product recipients, but recent reviews on this issue are outdated or limited in scope.
  • Five cases of vCJD transmission after transfusions were noted, all occurring in the UK prior to the implementation of universal leukodepletion in 1999, which indicates that vCJD specifically targets leukocytes.
  • Current risk estimates of vCJD transmission through blood are very low, and with no new cases reported over the past two decades, there is a strong rationale for easing blood donation restrictions related to vCJD, potentially increasing the donor pool safely.
View Article and Find Full Text PDF

Background And Objectives: Septic transfusion reactions (STRs) occur as a result of bacterial contamination of blood or blood products, resulting in sepsis. This scoping review aimed to identify, explore and map the available literature on the STR criteria triggering the investigation of STR.

Materials And Methods: Four electronic databases (MEDLINE, Web of Science, Science Direct, Embase) were searched to retrieve scientific literature reporting such criteria, published from 1 January 2000 to 5 May 2022.

View Article and Find Full Text PDF

Background And Objectives: ABO antigens are among the most immunogenic, but the haemolytic risks of ABO incompatibilities involving a donor with a weak ABO phenotype are little documented.

Materials And Methods: This retrospective case series assessed the incidence of acute haemolytic transfusion reaction (AHTR) among ABO-incompatible recipients of A blood in Québec (Canada). Transfusion safety officers reported laboratory AHTR indicators measured ≤24 h pre- and post-transfusion.

View Article and Find Full Text PDF

Donor milk is a good alternative for premature babies whose mothers cannot breastfeed. To reduce the risk of milk contamination, donors have to follow some hygiene instructions, including disinfecting their breast pump (BP). This study aims to investigate the efficacy of BP cleaning and disinfection methods.

View Article and Find Full Text PDF

Background: Preterm birth (PTB) is a global issue although its burden is higher in low- and middle-income countries. This study examined the risk factors of PTB in Southeastern Terai, Nepal.

Methods: In this community-based cross-sectional study, a total of 305 mothers having children under the age of 6 months were selected using systematic random sampling.

View Article and Find Full Text PDF

Background And Objective: Assessment criteria for septic transfusion reactions (STRs) are variable around the world. A scoping review will be carried out to find out, explore and map existing literature on STRs associated criteria.

Methods: This scoping review will include indexed and grey literatures available in English or French language from January 1, 2000, to December 31, 2021.

View Article and Find Full Text PDF

The emergence of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus responsible for the coronavirus disease 2019 (COVID-19) pandemic has raised concerns for programs overseeing donation and transplantation of cells, tissues, and organs (CTO) that this virus might be transmissible by transfusion or transplantation. Transplant recipients are considered particularly vulnerable to pathogens because of immunosuppression, and SARS-CoV-2 is likely to generate complications if contracted. Several signs and symptoms observed in COVID-19 positive patients reflect damage to multiple organs and tissues, raising the possibility of extrapulmonary SARS-CoV-2 infections and risk of transmission.

View Article and Find Full Text PDF

Objective: Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult-onset cerebellar ataxia, axonal peripheral ataxic neuropathy, and tremor, in variable combination with parkinsonism, seizures, cognitive decline, and ophthalmoplegia. We sought to identify the underlying molecular etiology and characterize the mitochondrial pathophysiology of this neurological syndrome.

View Article and Find Full Text PDF

Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by a pyramidal syndrome with symptoms predominantly affecting the lower limbs. Some limited pyramidal involvement also occurs in patients with an autosomal recessive neurocutaneous syndrome due to ALDH18A1 mutations. ALDH18A1 encodes delta-1-pyrroline-5-carboxylate synthase (P5CS), an enzyme that catalyses the first and common step of proline and ornithine biosynthesis from glutamate.

View Article and Find Full Text PDF

Objective: To present the clinical, molecular, and cell biological findings in a family with an autosomal recessive form of hereditary spastic paraplegia characterized by a combination of spastic paraplegia, optic atrophy, and peripheral neuropathy (SPOAN).

Methods: We used a combination of whole-genome linkage analysis and exome sequencing to map the disease locus and to identify the responsible gene. To analyze the physiologic consequences of the disease, we used biochemical and cell biological methods.

View Article and Find Full Text PDF
Article Synopsis
  • Spinocerebellar ataxias (SCAs) are genetic neurodegenerative disorders linked to mutations in various genes, and SCA38 was specifically mapped to chromosome 6p in an Italian family through whole-genome analysis.
  • A single missense mutation in the ELOVL5 gene was found to be present in multiple SCA-affected families, indicating a common ancestry, while another variant was identified in a French family.
  • ELOVL5 plays a crucial role in producing essential fatty acids; affected individuals showed reduced levels of important fatty acids in their serum, highlighting the connection between fatty acid metabolism and neurological health.
View Article and Find Full Text PDF

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurological conditions. Their main pathogenic mechanisms are thought to involve alterations in endomembrane trafficking, mitochondrial function, and lipid metabolism. With a combination of whole-genome mapping and exome sequencing, we identified three mutations in REEP2 in two families with HSP: a missense variant (c.

View Article and Find Full Text PDF

Background: Hereditary spastic paraparesis (HSP) (syn. Hereditary spastic paraplegia, SPG) are a group of genetic disorders characterised by spasticity of the lower limbs due to pyramidal tract dysfunction. Nearly 60 disease loci have been identified, which include mutations in two genes (KIF5A and KIF1A) that encode motor proteins of the kinesin superfamily.

View Article and Find Full Text PDF

Hereditary spastic paraplegias (HSPs) form a heterogeneous group of neurological disorders. A whole-genome linkage mapping effort was made with three HSP-affected families from Spain, Portugal, and Tunisia and it allowed us to reduce the SPG26 locus interval from 34 to 9 Mb. Subsequently, a targeted capture was made to sequence the entire exome of affected individuals from these three families, as well as from two additional autosomal-recessive HSP-affected families of German and Brazilian origins.

View Article and Find Full Text PDF

Hereditary spastic paraplegia (HSP) is considered one of the most heterogeneous groups of neurological disorders, both clinically and genetically. The disease comprises pure and complex forms that clinically include slowly progressive lower-limb spasticity resulting from degeneration of the corticospinal tract. At least 48 loci accounting for these diseases have been mapped to date, and mutations have been identified in 22 genes, most of which play a role in intracellular trafficking.

View Article and Find Full Text PDF
Article Synopsis
  • * Scientists found mutations in a gene called RAD51 in families with CMM, which affects how the body’s nerves develop and function.
  • * This discovery suggests that RAD51 not only helps fix DNA but also plays a surprising role in how our brains control movement with both hands, leading to new research opportunities.
View Article and Find Full Text PDF

The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterised by progressive spasticity in the lower limbs. The nosology of autosomal recessive forms is complex as most mapped loci have been identified in only one or a few families and account for only a small percentage of patients. We used next-generation sequencing focused on the SPG30 chromosomal region on chromosome 2q37.

View Article and Find Full Text PDF

During mitosis, chromosome alignment depends on the regulated dynamics of microtubules and on motor protein activities. At the kinetochore, the interplay between microtubule-binding proteins, motors, and kinases is poorly understood. Cenp-E is a kinetochore-associated kinesin involved in chromosome congression, but the mechanism by which this is achieved is unclear.

View Article and Find Full Text PDF

Purpose: By using cell survival as a reference, we evaluated the radiosensitivity of human normal and tumoral thyroid cells using of radiation-induced translocations.

Methods And Materials: Tissue samples were obtained from patients undergoing thyroidectomy. Cell cultures were established, irradiated with 60Co, and metaphases painted using commercial whole-chromosome 4 hybridization probe and pancentromeric probe.

View Article and Find Full Text PDF

Aim: To assess outcome at 5-6 years in a cohort of very preterm infants (< 34 weeks of gestation) who had been randomly allocated within a controlled clinical trial to receive morphine or non-morphine treatment in the neonatal period.

Methods: Assessments were made on 87 children at 5-6 years who had been recruited in the neonatal period to two sequential controlled studies (1989-92). Infants requiring mechanical ventilation had been randomly allocated to receive either morphine (n = 62) or other (n = 33) solutions starting on the first day of life.

View Article and Find Full Text PDF

Unlabelled: To estimate a cumulative dosimetric index that reflects the dose to the circulating lymphocytes after repeated treatments with 131I, biologic dosimetry was applied to 18 patients with differentiated thyroid carcinoma and neck relapse or lung metastases.

Methods: Chromosomal aberrations were scored in peripheral blood samples that were obtained before and 4 days after each administration of 3.7 GBq 131I according to two methods, conventional cytogenetics and chromosome 4 painting.

View Article and Find Full Text PDF

Unlabelled: To determine the cytogenetic and genotoxic risk associated with therapeutic exposure to 131I (3.7 GBq) in 50 patients with differentiated thyroid carcinoma, we estimated the dosimetric index that reflects the dose to the circulating lymphocytes on Day 4 and at several time intervals after exposure over a period of 2 yr.

Methods: Chromosomal aberrations were scored in peripheral lymphocytes obtained before and then 4 days, 3 mo, 6 mo, 1 yr and 2 yr after the first administration of 3.

View Article and Find Full Text PDF