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1.
JAMA Pediatr ; 178(7): 649-656, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38739382

ABSTRACT

Importance: Breastfed infants are at risk of iron deficiency, which is associated with suboptimal development. There is a paucity of evidence on the effects of iron supplementation on child development, and current guidelines are divergent. Objective: To assess whether daily iron supplementation, 1 mg/kg, between 4 and 9 months in exclusively or predominantly breastfed infants improves psychomotor development at 12 months. Design, Setting, and Participants: This was a randomized, double-blind, placebo-controlled trial conducted between December 2015 and May 2020 with follow-up through May 2023 in an outpatient setting in Poland and Sweden. Participants were healthy singleton infants born at term with birth weight greater than 2500 g who were exclusively or predominantly breastfed (>50%) and did not have anemia (hemoglobin >10.5 g/dL) at age 4 months. Exclusion criteria included major illness, congenital anomaly, food allergy, and difficulty communicating with caregivers. Interventions: Iron (micronized microencapsulated ferric pyrophosphate), 1 mg/kg, or placebo (maltodextrin) once daily from age 4 to 9 months. Main Outcomes and Measures: The primary outcome was psychomotor development assessed by motor score of Bayley Scales of Infant and Toddler Development III at 12 months, adjusted for gestational age, sex, and maternal education. Secondary outcomes included cognitive and language scores at 12 months; motor, cognitive, and language scores at 24 and 36 months; iron deficiency (serum ferritin <12 ng/mL), and iron deficiency anemia (iron deficiency and hemoglobin <10.5 g/dL) at 12 months. Results: Of 221 randomized infants (111 female), 200 (90%) were included in the intention-to-treat analysis (mean [SD] age, 12.4 [0.8] months). Iron supplementation (n = 104) compared to placebo (n = 96) had no effect on psychomotor development (mean difference [MD] for motor score, -1.07 points; 95% CI, -4.69 to 2.55), cognitive score (MD, -1.14; 95% CI, -4.26 to 1.99), or language score (MD, 0.75; 95% CI, -2.31 to 3.82) at 12 months. There were no significant differences at 24 and 36 months. The intervention did not reduce the risk for iron deficiency (relative risk [RR], 0.46; 95% CI, 0.16 to 1.30) or iron deficiency anemia (RR, 0.78; 95% CI, 0.05 to 12.46) at 12 months. Conclusion and Relevance: No benefit was found with daily low-dose iron supplementation between 4 and 9 months with respect to psychomotor development, risk of iron deficiency, or iron deficiency anemia among breastfed infants in a setting of low risk of anemia. Trial Registration: ClinicalTrials.gov Identifier: NCT02242188.


Subject(s)
Breast Feeding , Child Development , Dietary Supplements , Humans , Female , Double-Blind Method , Infant , Male , Child Development/drug effects , Iron/administration & dosage , Anemia, Iron-Deficiency/prevention & control
2.
Medicina (Kaunas) ; 60(3)2024 Feb 26.
Article in English | MEDLINE | ID: mdl-38541118

ABSTRACT

Macrophage activation syndrome is an uncommon yet dangerous and potentially fatal complication of many rheumatic diseases, inducing multiple organ failure, including, although rarely, acute heart failure. In the following paper, we present a case of a 37-year-old woman who, in a short period of time after a gynecological procedure due to fetal death, developed full-blown lupus erythematosus leading to early stages of macrophage activation syndrome with acute heart failure as its main clinical manifestation. We also include herein a brief literature review of the current understanding of diverse macrophage populations and their functions in various organs (focusing especially on the heart muscle), as well as a summary of different attempts at composing concise criteria for diagnosing macrophage activation syndrome.


Subject(s)
Heart Failure , Lupus Erythematosus, Systemic , Macrophage Activation Syndrome , Female , Humans , Adult , Macrophage Activation Syndrome/etiology , Macrophage Activation Syndrome/complications , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/diagnosis , Macrophages , Myocardium , Heart Failure/complications
3.
J Clin Med ; 12(19)2023 Sep 28.
Article in English | MEDLINE | ID: mdl-37834893

ABSTRACT

Systemic connective tissue disorders constitute a heterogenous group of autoimmune diseases with the potential to affect a range of organs. Rheumatoid arthritis (RA) is a chronic, progressive, autoimmune inflammatory disease affecting the joints. Systemic lupus erythematosus (SLE) may manifest with multiple system involvement as a result of inflammatory response to autoantibodies. Spondyloarthropathies (SpAs) such as ankylosing spondylitis (AS) or psoriatic arthritis (PsA) are diseases characterised by the inflammation of spinal joints, paraspinal tissues, peripheral joints and enthesitis as well as inflammatory changes in many other systems and organs. Physiologically, sclerostin helps to maintain balance in bone tissue metabolism through the Wnt/ß-catenin pathway, which represents a major intracellular signalling pathway. This review article aims to present the current knowledge on the role of sclerostin in the Wnt/ß-catenin pathway and its correlation with clinical data from RA, SLE, AS and PsA patients.

5.
Diagnostics (Basel) ; 13(18)2023 Sep 08.
Article in English | MEDLINE | ID: mdl-37761256

ABSTRACT

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is a well-known oncogene with a high prevalence of mutation in breast cancer patients. The effect of the mutation is a deregulation in phosphatidylinositol 3-kinase-related pathways, and, consequently, in unrestricted cell growth and differentiation. With the advent of precision oncology, PIK3CA has emerged as a pivotal treatment target, culminating in the recent approval of alpelisib. Despite years of research on this genetic alteration, certain aspects of its influence on the prognosis of breast cancer remain ambiguous. The purpose of this analysis is to characterize the clinical picture of breast cancer patients with PIK3CA mutation in comparison to the PIK3CA-wild-type group. We examined 103 tumor samples from 100 breast cancer patients using a next-generation sequencing panel. Presence of the mutation was linked to an older age at diagnosis, a lower expression of Ki67 protein, a greater percentage of tumors expressing progesterone receptors, and a notably higher incidence of metastatic disease at presentation. No significant differences were identified in overall and progression-free survival between the two groups. Our findings enhance the understanding of how PIK3CA mutations shape the clinical and prognostic landscape for breast cancer patients.

6.
Int J Mol Sci ; 24(15)2023 Jul 27.
Article in English | MEDLINE | ID: mdl-37569413

ABSTRACT

Fatigue is a prevalent symptom in various rheumatic diseases, such as rheumatoid arthritis, psoriatic arthritis, and ankylosing spondylitis. It is characterised as a subjective, enduring feeling of generalised tiredness or exhaustion, impacting the patient's life quality and exacerbating disability. The fatigue nature is multifaceted, encompassing physiological, psychological, and social factors, and although the exact cause of inflammatory joint diseases is not fully understood, several factors are believed to contribute to its development. Despite high prevalence and importance, the symptom is often underestimated in clinical practice. Chronic inflammation, commonly associated with rheumatic diseases, has been proposed as a potential contributor to fatigue development. While current treatments effectively target inflammation and reduce disease activity, fatigue remains a persistent problem. Clinical evaluation of rheumatic diseases primarily relies on objective criteria, whereas fatigue, being a subjective symptom, is solely experienced and reported by the patient. Managing fatigue in inflammatory joint diseases involves a multifaceted approach. Identifying and comprehensively assessing the subjective components of fatigue in individual patients is crucial for effectively managing this symptom in everyday clinical practice.


Subject(s)
Arthritis, Rheumatoid , Rheumatic Diseases , Spondylitis, Ankylosing , Humans , Arthritis, Rheumatoid/complications , Spondylitis, Ankylosing/complications , Inflammation/complications , Rheumatic Diseases/complications , Fatigue/etiology
7.
J Clin Med ; 11(14)2022 Jul 20.
Article in English | MEDLINE | ID: mdl-35887970

ABSTRACT

Macrophage activation syndrome is a severe and potentially fatal condition in rheumatology. It can involve many different organs and systems, including the cardiovascular system, but heart failure due to its course is a relatively rare occurrence. In the following paper, we present a case of a young woman with newly diagnosed systemic lupus erythematosus who, in the span of two months, developed macrophage activation syndrome and acute heart failure, which caused her death. We analyze potential causes that may have led to that outcome, and present a brief review of the current literature concerning different macrophage groups in the heart and their potential involvement in the development of heart failure.

8.
Int J Mol Sci ; 23(5)2022 Feb 23.
Article in English | MEDLINE | ID: mdl-35269577

ABSTRACT

Macrophage activation syndrome (MAS) is one of the few entities in rheumatology with the potential to quickly cause multiple organ failure and loss of life, and as such, requires urgent clinical intervention. It has a broad symptomatology, depending on the organs it affects. One especially dangerous aspect of MAS's course of illness is myocarditis leading to acute heart failure and possibly death. Research in recent years has proved that macrophages settled in different organs are not a homogenous group, with particular populations differing in both structure and function. Within the heart, we can determine two major groups, based on the presence of the C-C 2 chemokine receptor (CCR2): CCR2+ and CCR2-. There are a number of studies describing their function and the changes in the population makeup between normal conditions and different illnesses; however, to our knowledge, there has not been one touching on the matter of changes occurring in the populations of heart macrophages during MAS and their possible consequences. This review summarizes the most recent knowledge on heart macrophages, the influence of select cytokines (those particularly significant in the development of MAS) on their activity, and both the immediate and long-term consequences of changes in the makeup of specific macrophage populations-especially the loss of CCR2- cells that are responsible for regenerative processes, as well as the substitution of tissue macrophages by the highly proinflammatory CCR2+ macrophages originating from circulating monocytes. Understanding the significance of these processes may lead to new discoveries that could improve the therapeutic methods in the treatment of MAS.


Subject(s)
Heart Failure/immunology , Macrophage Activation Syndrome/complications , Macrophages/immunology , Receptors, CCR2/metabolism , Disease Progression , Gene Expression Regulation , Heart Failure/etiology , Humans , Macrophage Activation Syndrome/immunology , Myocardium/immunology
10.
Diagnostics (Basel) ; 11(8)2021 Aug 11.
Article in English | MEDLINE | ID: mdl-34441382

ABSTRACT

Background: Multiple endocrine neoplasia type 2A (MEN2A) is a rare, hereditary syndrome resulting from a germline mutation in the RET proto-oncogene and characterized primarily by medullary thyroid cancer (MTC), pheochromocytoma (PHEO), and hyperparathyroidism. Types of RET mutation have been associated with age at onset, clinical outcomes of MTC, and the penetrance of other components. Patients classified as 'high-risk' by the American Thyroid Association (ATA), based on the aggressiveness of MTC and the penetrance of other components, are recommended to undergo early prophylactic thyroidectomy at age ≤ 5 years and to be screened for PHEO at age ≥ 11 years. Patients with RET codon C634R mutations have been classified as high-risk. Case presentation: The present study describes a 71-year-old woman newly diagnosed with hereditary MTC related to a RET C634R germline mutation. Her basal serum calcitonin level was high, but there was no evidence of distant metastases. Surgery revealed bilateral MTC with two metastatic lymph nodes. Because microscopic resection was incomplete and extranodal extension was observed, the patient underwent adjuvant external beam radiotherapy. Response to therapy was excellent. Follow-up after 1.5 years showed no evidence of disease or other manifestations of MEN2A. Conclusion: Despite RET C634R carriers being classified as high-risk by the ATA, this patient did not present with either distant MTC or PHEO until her seventies. To our knowledge, only one other patient has shown a similar late identification of a RET C634R mutation, but MTC could not be diagnosed because the patient was lost to follow-up. Further research is required to develop optimal protocols that could allow patients requiring prophylactic thyroidectomy to be differentiated from those who can be monitored closely without early surgery.

12.
BMJ Open ; 5(11): e009441, 2015 Nov 24.
Article in English | MEDLINE | ID: mdl-26603252

ABSTRACT

INTRODUCTION: Uncertainty exists regarding the effects of iron supplementation during infancy on neurodevelopmental outcomes in the absence of anaemia. The aim of the study is to establish whether psychomotor and mental development is influenced by early iron supplementation in healthy, non-anaemic, exclusively or predominantly breastfed infants. METHODS AND ANALYSIS: Healthy term infants will be recruited. If exclusively or predominantly breast fed (>50% of daily feedings) and not anaemic at 4 months, they will be randomised to receive either iron pyrophosphate (approximately 1 mg/kg) or placebo daily until 9 months of age. The primary outcome measure is neurodevelopment assessed with the Bayley Scales of Infant and Toddler Development (Bayley-III) at 12 months, and repeated at 24 and 36 months of age. Haematological parameters of iron metabolism also will be measured. ETHICS AND DISSEMINATION: The Bioethics Committee of the Medical University of Warsaw approved the study protocol before recruitment started. Study results will be submitted to peer-reviewed journals in the fields of paediatrics and nutrition, and presented at relevant conferences. TRIAL REGISTRATION NUMBER: NCT02242188.


Subject(s)
Anemia, Iron-Deficiency , Breast Feeding , Child Development/drug effects , Dietary Supplements , Iron, Dietary/pharmacology , Iron/pharmacology , Psychomotor Performance , Anemia, Iron-Deficiency/prevention & control , Clinical Protocols , Humans , Infant , Infant, Newborn , Reference Values , Research Design
13.
Polim Med ; 33(3): 53-7, 2003.
Article in Polish | MEDLINE | ID: mdl-14696525

ABSTRACT

The paper presents the results of investigations of polymer coatings used as capsules for implantable microelectronic devices for medical applications. Such devices work in artificial pacemakers and as feeding systems, in nerve ending stimulator sets. Biocompatible and biostable polysulfone capsules for integrated circuits and batteries have been prepared. Preliminary investigation of overall chemical stability of encapsulated electronic devices in Ringer's solutions, has been carried out as a function of immersion time. Influence of number of coating polysulfone layers on voltage-stability of batteries immersed in 0.9% NaCl solution has been measured with time. A comparative study of silicone (SIL) coating and double coating with silicone and polysulfone (SIL + PSU) in an in vitro test has been carried out.


Subject(s)
Biocompatible Materials/metabolism , Polymers/metabolism , Prostheses and Implants , Silicones/metabolism , Sulfones/metabolism , In Vitro Techniques
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