Charting a course for global progress in PIDs by 2030 - proceedings from the IPOPI global multi-stakeholders' summit (September 2023).

The International Patient Organisation for Primary Immunodeficiencies (IPOPI) held its second Global Multi-Stakeholders' Summit, an annual stimulating and forward-thinking meeting uniting experts to anticipate pivotal upcoming challenges and opportunities in the field of primary immunodeficiency (PID). The 2023 summit focused on three key identified discussion points: (i) How can immunoglobulin (Ig) therapy meet future personalized patient needs? (ii) Pandemic preparedness: what's next for public health and potential challenges for the PID community? (iii) Diagnosing PIDs in 2030: what needs to happen to diagnose better and to diagnose more? Clinician-Scientists, patient representatives and other stakeholders explored avenues to improve Ig therapy through mechanistic insights and tailored Ig preparations/products according to patient-specific needs and local exposure to infectious agents, amongst others. Urgency for pandemic preparedness was discussed, as was the threat of shortage of antibiotics and increasing antimicrobial resistance, emphasizing the need for representation of PID patients and other vulnerable populations throughout crisis and care management.

Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress.

This article presents the report of the session on "Newborn Screening for Primary Immunodeficiencies-Now What?" organised during the International Primary Immunodeficiency Congress (IPIC) held in November 2023. This clinical conference was organised by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), the global patient organisation advocating for primary immunodeficiencies (PIDs) in patients. The session aimed at exploring the advances in newborn screening (NBS) for severe combined immunodeficiency, starting with the common practice and inserting the discussion into the wider perspective of genomics whilst taking into consideration the ethical aspects of screening as well as incorporating families and the public into the discussions, so as to ensure that NBS for treatable rare disorders continues to be one of the major public health advances of the 20th century.

The characterization of toll-like receptor repertoire in after mass mortality events suggests adaptive introgression.

The fan mussel is currently on the brink of extinction due to a multifactorial disease mainly caused to the highly pathogenic parasite , meaning that the selection pressure outweighs the adaptive potential of the species. Hopefully, rare individuals have been observed somehow resistant to the parasite, stretching the need to identify the traits underlying this better fitness. Among the candidate to explore at first intention are fast-evolving immune genes, of which toll-like receptor (TLR).

Risk factors for hypothyroidism following hemithyroidectomy.

Objective: Hypothyroidism is the most common complication of hemithyroidectomy for thyroid nodules. This retrospective cohort study investigated the prognostic factors for hypothyroidism following hemithyroidectomy.

Methods: We included patients who underwent hemithyroidectomy between 2016 and 2017, excluding those with history of preoperative hypothyroidism or malignancy on histopathological examination.

Primary immunodeficiencies (PID) Life Index in Southeast Asia: A comparative analysis of PID Principles of Care (PoC).

Objective: To analyze the implementation of the Principles of Care (PoC) in primary immunodeficiencies (PID) in Southeast Asia (SEA) countries - six years after its call of action.

Methodology: Using the newly developed PID Life Index software, the index of implementation of principles of care in the management of PIDs patients involving the six participating SEA countries (Cambodia, Indonesia, Malaysia, Vietnam, Thailand, and Philippines) were extracted. For each of the six separate principles, the index from the six countries will be compared and presented based on the calculated index.

Towards Achieving Equity and Innovation in Newborn Screening across Europe.

Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and present a substantial public health burden. Together with the psychosocial burden on affected families, rare disorders frequently, if untreated, result in a low quality of life, disability and even premature death. Newborn screening (NBS) has the potential to detect a number of rare conditions in asymptomatic children, providing the possibility of early treatment and a significantly improved long-term outcome.

The PID Life Index: an interactive tool to measure the status of the PID healthcare environment in any given country.

Background: The "Primary Immunodeficiencies (PIDs) principles of care" were published in 2014 as the gold standard for care of patients with PIDs, setting a common goal for stakeholders to ensure that patients with PID have access to appropriate care and good quality of life. Since then, IPOPI (the International Patient Organisation for Primary Immunodeficiencies), has been working with national PID patient organisations as well as collaborating with scientific and medical institutions and experts to bring these principles closer to the day-to-day life of individuals with PIDs.

Method: The six PID Principles of Care were revised to consider advances in the field, as well as political developments that had occurred after their initial publication in 2014.

The PID Principles of Care: Where Are We Now? A Global Status Report Based on the PID Life Index.

A global gold standard framework for primary immunodeficiency (PID) care, structured around six principles, was published in 2014. To measure the implementation status of these principles IPOPI developed the PID Life Index in 2020, an interactive tool aggregating national PID data. This development was combined with a revision of the principles to consider advances in the field of health and science as well as political developments since 2014.

Use of the parathyroid hormone assay at H6 post thyroidectomy: an early predictor of hypocalcemia.

Purpose: Hypocalcemia linked to a diminished circulating intact parathormone (iPTH) is the most common complication after total thyroidectomy. The objective of this study was to evaluate iPTH as a predictor of post-thyroidectomy hypocalcemia.

Methods: Hundred-and-eight patients who underwent total thyroidectomy were included.

First Description of Alveolar Rhabdomyosarcoma of the Larynx in a Young Child.

Rhabdomyosarcoma of the larynx has been very rarely described in pediatric population. There are 3 histological subtypes: embryonal, pleomorphic, and alveolar. With regard to the English literature, we present the first case of alveolar rhabdomyosarcoma of the larynx ever described in a child.

Global immunoglobulin supply: steaming towards the iceberg?

Purpose Of Review: This review describes how plasma is sourced for fractionation into plasma-derived medicinal products (PDMPs), such as immunoglobulin (Ig) together with differences between plasma from whole blood (recovered plasma) and from plasmapheresis (source plasma) in terms of global plasma supply. Specific areas of growth in immunoglobulin use are identified alongside novel therapies, which may reduce demand for some immunoglobulin indications.

Recent Findings: There has been a 6--8% annual growth in immunoglobulin use.

The Development of a New Questionnaire to Measure the Burden of Immunoglobulin Treatment in Patients with Primary Immunodeficiencies: The IgBoT-35.

Purpose: To describe the development and psychometric testing of a new questionnaire to measure the burden of immunoglobulin treatment (Ig) from the perspective of patients with primary immunodeficiencies (PID).

Patients And Methods: An online, cross-sectional survey was administered to PID patients across 10 countries (nine European and Canada) who were receiving either intravenous (IVIg) or subcutaneous (SCIg) immunoglobulin therapy. The range and distribution of the responses (ie, levels of missing data, floor and ceiling effects), exploratory factor analysis (using factor loadings of 0.

Management of neonatal retro-auricular embryonal rhabdomyosarcoma - Case report.

Introduction: Rhabdomyosarcoma (RMS) arises from mesenchymal cells committed to skeletal muscle. It is the most frequent soft-tissue sarcoma in children and makes up 5% of all pediatric malignant tumors. In this population, there are two main histological forms, which are the embryonal or the alveolar RMS.

Improving Health Outcomes for Immigrant Families Through IPV Screening: Resources and Recommendations for Pediatric Health Care Providers.

Intimate partner violence (IPV) is a significant yet preventable public health problem affecting 1 in 15 children annually. Children exposed to IPV exhibit lifelong consequences including increased risks of social, emotional, psychological and behavioral problems (mood and anxiety disorders, post-traumatic stress disorders, substance abuse, and school-related problems). Limited research exists in identifying and assessing gaps in IPV screening and surveillance techniques for vulnerable populations such as immigrants, refugees, or in families where English is not spoken in the home.

[Reasons for first-consultation in nephrology in the health area 5 of Britanny during the year 2014].

Background: In France, the coordinated healthcare circuit means that patients should be referred to specialists, for example nephrologists, by another physician. However, there are no recommendations concerning the reasons justifying the referral to a nephrologist. The main purpose of our study is to describe the motif of first consultations in nephrology in the health area 5 of Brittany.

Primary immune deficiencies - principles of care.

Primary immune deficiencies (PIDs) are a growing group of over 230 different disorders caused by ineffective, absent or an increasing number of gain of function mutations in immune components, mainly cells and proteins. Once recognized, these rare disorders are treatable and in some cases curable. Otherwise untreated PIDs are often chronic, serious, or even fatal.

Improving current immunoglobulin therapy for patients with primary immunodeficiency: quality of life and views on treatment.

Background: Subcutaneous or intravenous immunoglobulin replacement is the mainstay of treatment for most patients with primary immunodeficiency disease (PID). The purpose of this study was to gain an understanding of how existing PID therapies affect patient lives and to identify desired improvements to immunoglobulin treatments.

Methods: An online questionnaire was made available through the International Patient Organisation for Primary Immunodeficiencies to patients with PID and their caregivers regarding current treatment satisfaction, living with PID, and patient preferences using a conjoint approach.

Stability and immunogenicity properties of the gene-silencing polypurine reverse Hoogsteen hairpins.

Gene silencing by either small-interference RNAs (siRNA) or antisense oligodeoxynucleotides (aODN) is widely used in biomedical research. However, their use as therapeutic agents is hindered by two important limitations: their low stability and the activation of the innate immune response. Recently, we developed a new type of molecule to decrease gene expression named polypurine reverse Hoogsteen hairpins (PPRHs) that bind to polypyrimidine targets in the DNA.

[Elastic stable intramedullary nailing in Ilizarov bone lengthening].

Purpose Of The Study: Bone lengthening with the Ilizarov technique gives good results but certain disadvantages are common: possible axial deviation during lengthening, long time to bone union, risk of fracture after removal of the external fixator. Associating the Ilizarov technique with elastic stable intramedullary nailing (ESIN) commonly used in traumatology has to be evaluated. We conducted an experimental study and report results of the first clinical application.

Purification and Characterization of Phosphoribosylpyrophosphate Synthetase from Rubber Tree Latex.

Phosphoribosylpyrophosphate synthetase (PRS; EC 2.7.6.

[Reduction of the period of treatment for leg lengthening. Technique and advantages].

Purpose Of The Study: We assessed an adaptation of the Ilizarov method aimed at a considerable reduction in the period of treatment for leg lengthening in order to limit complications related to the duration of the external fixation. This technique associates multiple segment lengthening, automatic high-frequency lengthening, and stimulation of bone regeneration by extemporaneous compression at the end of traction.

Material And Methods: We analyzed 78 cases of automatic fémur lengthening in 40 patients and simultaneous fémur and tibia lengthening in 38 patients.