Correlates of mental health of people living with HIV co-infected with SARS-CoV-2: findings from the COVIDHIV study in France.

Background: The COVID-19 pandemic has severely affected vulnerable populations, especially individuals living with HIV/AIDS (PLWHA). The convergence of HIV/AIDS and COVID-19 presents unique challenges, exacerbating existing health concerns and magnifying the strain on individuals already grappling with compromised immune systems. This study aimed to investigate the mental well-being repercussions faced by PLWHA co-infected with SARS-CoV-2 in France.

Response to the Letter to the Editor: Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection.

This letter highlights the crucial distinction between studying HLA alleles in unvaccinated individuals during the acute phase of primary SARS-CoV-2 infection versus any SARS-CoV-2 infection including re-infections, breakthrough infections, and primary infections in vaccinated individuals.

Primary Antibody Deficiencies: Curation Of Gene-Disease Relationships Using A ClinGen Validation Framework.

Background: The Clinical Genome Resource (ClinGen) is an international collaborative effort between scientists and clinicians, diagnostic and research laboratories as well as the patient community. Using a standardized framework, ClinGen has established guidelines to classify gene-disease relationships as Definitive, Strong, Moderate, and Limited based on available scientific and clinical evidence. When the genetic and functional evidence for a gene-disease relationship has conflicting interpretations or contradictory evidence, they can be Disputed or Refuted.

Outcomes and challenges in adolescents living with HIV in France: a nationwide cohort study over 35 years (1985-2020).

Objective: Most data published on adolescents living with HIV (ALH) have been collected before the large diffusion of second-generation integrase strand transfer inhibitors (INSTI) among the pediatric population. We analyzed the nationwide ANRS-MIE CO10 Pediatric cohort to assess the changes over time in health and social outcomes of French ALH.

Design: The cohort enrolled children born in France since 1985 and, from 2005, children diagnosed with HIV at ≤13 years, including those born abroad if antiretroviral-naive at first medical care in France.

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.

IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impaired IKKα-NIK interaction was reported in a single patient and causes combined immunodeficiency. Here, we describe compound heterozygous variants in the kinase domain of IKKα in a female patient with hypogammaglobulinemia, recurrent lung infections, and Hay-Wells syndrome-like features.

Prevalence of pathogenic variants of inborn errors of immunity in critically ill children admitted to the pediatric intensive care unit for sepsis: A Moroccan cohort study.

Introduction: Pediatric sepsis remains a leading cause of morbidity and mortality in Africa. Nearly half of pediatric sepsis deaths occur in previously healthy children. The role of inborn errors of immunity (IEI) in susceptibility to sepsis is yet to be identified and their prevalence amongst previously healthy children admitted to the pediatric intensive care unit (PICU) is unclear.

Effect of Triheptanoin on Caudate Atrophy and Motor Scores in Patients With Early-Stage Huntington Disease: A Phase II Study.

Background And Objectives: Brain energy deficiency occurs at the early stage of Huntington disease (HD). Triheptanoin, a drug that targets the Krebs cycle, can restore a normal brain energetic profile in patients with HD. In this study, we aimed at assessing its efficacy on clinical and neuroimaging structural measures in HD.

The role of artificial intelligence and image processing in the diagnosis, treatment, and prognosis of liver cancer: a narrative-review.

Artificial intelligence (AI) and image processing are revolutionising the diagnosis and management of liver cancer. Recent advancements showcase AI's ability to analyse medical imaging data, like computed tomography scans and magnetic resonance imaging, accurately detecting and classifying liver cancer lesions for early intervention. Predictive models aid prognosis estimation and recurrence pattern identification, facilitating personalised treatment planning.

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

The effect of sevelamer on serum calcification propensity in patients with chronic kidney disease: the results of a multicentre, double-blind, placebo-controlled, randomized clinical trial.

Background: The serum calcification propensity test (or T50 test) might become a standard tool for the assessment of vascular calcification risk and T50 might be a valuable biomarker in clinical trials of treatments intended to slow the progression of vascular calcification. Literature data suggest that non-calcium-containing phosphate binders can influence T50 in chronic dialysed patients. However, it is not clear whether similar interventions are effective in patients at earlier stages of chronic kidney disease (CKD).

Is preloading with amikacin a measure able to mitigate sequestration? A preliminary in vitro study.

Introduction: Amikacin is sequestered in polyacrylonitrile filters. Methods mitigating sequestration are unknown. Amikacin elimination in a polyacrylonitrile-derived filter preloaded with amikacin was studied in a preliminary study.

Evaluation of a Decentralized Donor-Derived Cell-Free DNA Assay for Kidney Allograft Rejection Monitoring.

Donor-derived cell-free DNA (dd-cfDNA) is an emerging non-invasive biomarker for allograft injury detection. This study aimed to evaluate a new, decentralized dd-cfDNA testing kit against a centralized dd-cfDNA testing service broadly utilized in the United States. Kidney transplant recipients with decentralized and centralized dd-cfDNA measurements and concomitant kidney allograft biopsies were included in the study.

Deep learning models reveal the link between dynamic brain connectivity patterns and states of consciousness.

Decoding states of consciousness from brain activity is a central challenge in neuroscience. Dynamic functional connectivity (dFC) allows the study of short-term temporal changes in functional connectivity (FC) between distributed brain areas. By clustering dFC matrices from resting-state fMRI, we previously described "brain patterns" that underlie different functional configurations of the brain at rest.

Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.

Rationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.

Study Design: Case series.

Biofeedback rehabilitation in children with encopresis due to retentive constipation using simple tools: a real-world study in a French paediatric centre.

This study aimed to describe the effectiveness of biofeedback (BFB) rehabilitation in children with retentive encopresis (RE). A retrospective, single-institution study was conducted in children with BFB sessions for RE between 2017 and 2020. Manometry data and associated envy scores were analysed.

The monogenic landscape of human infectious diseases.

The spectrum of known monogenic inborn errors of immunity is growing, with certain disorders underlying a specific and narrow range of infectious diseases. These disorders reveal the core mechanisms by which these infections occur in various settings, including inherited and acquired immunodeficiencies, thereby delineating the essential mechanisms of protective immunity to the corresponding pathogens. These findings also have medical implications, facilitating diagnosis and improving the management of individuals at risk of disease.

Deciphering the Complexity of the Immune Cell Landscape in Kidney Allograft Rejection.

While the Banff classification dichotomizes kidney allograft rejection based on the localization of the cells in the different compartments of the cortical kidney tissue [schematically interstitium for T cell mediated rejection (TCMR) and glomerular and peritubular capillaries for antibody-mediated rejection (AMR)], there is a growing evidences that subtyping the immune cells can help refine prognosis prediction and treatment tailoring, based on a better understanding of the pathophysiology of kidney allograft rejection. In the last few years, multiplex IF techniques and automatic counting systems as well as transcriptomics studies (bulk, single-cell and spatial techniques) have provided invaluable clues to further decipher the complex puzzle of rejection. In this review, we aim to better describe the inflammatory infiltrates that occur during the course of kidney transplant rejection (active AMR, chronic active AMR and acute and chronic active TCMR).

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.

Upper airway obstructive events on noninvasive ventilation in NMD adolescents.

Home noninvasive ventilation (NIV) is expanding worldwide for pediatrics and is mainly indicated to treat nocturnal alveolar hypoventilation. Nasal mask is the most common interface used in children, but oronasal mask may be indicated in case of excessive mouth leaks or facial weakness. Obstructive events caused by the oronasal mask have been reported in a few studies on adult patients, but never in pediatrics.

Combined antifungal therapy with immunostimulation for refractory cutaneous and peritoneal mucormycosis caused by Rhizopus microsporus.

Mucormycosis is a fungal infection typically affecting immunocompromised patients. Here, we report a severe case of invasive cutaneous and peritoneal mucormycosis caused by Rhizopus microsporus, successfully treated with a combination of antifungal therapy, PD-1 inhibitor, and interferon-gamma. We highlight the importance of personalized immunotherapy in refractory cases of invasive mucormycosis.