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Pediatr Nephrol
January 2025
Division of Molecular Medicine, University of São Paulo School of Medicine, São Paulo, Brazil.
Predicting the risks of progression to chronic kidney disease (CKD) stage 5 in idiopathic nephrotic syndrome (NS) and recurrence of the disease (rNS) following kidney transplantation (KT) is a key assessment to provide essential management information. NS has been categorized etiologically as genetic and immune-based. A genetic cause can be identified in ~ 30% of children with steroid-resistant NS (SRNS), a finding associated with a very low risk of rNS following KT.
View Article and Find Full Text PDFGriscelli syndrome is a rare autosomal recessive disorder characterised by pigmentary dilution of skin and hair, recurrent skin and pulmonary infections, neurological manifestations, and immunodeficiency. We present a four-month-old female child with hypopigmented silvery hair and a history of recurrent hospitalisations for respiratory illness. The child was extensively evaluated for inborn errors of immunity (IEI), and the final diagnosis of type 2 Griscelli syndrome was made only after genetic testing.
View Article and Find Full Text PDFActa Otolaryngol
January 2025
Department of Otorhinolaryngology-Head and Neck Surgery, Faculty of Medicine, Universitas Brawijaya/Dr. Saiful Anwar General Hospital, Malang, Indonesia.
Background: Chronic Transforming Growth Factor Beta 1 (TGF-β1) plays a critical role in tissue remodelling and immunological modulation, which may contribute to the severity and recurrence of Chronic Rhinosinusitis with Nasal Polyps (CRSwNP). Despite extensive research on CRSwNP, the exact role and pathological significance of TGF-β1 in CRSwNP remain poorly understood due to inconsistencies in study methodologies and findings.
Aims/objectives: To resolve discrepancies in the literature, this systematic review compares the levels of TGF-β1 in CRSwNP tissue to controls and Chronic Rhinosinusitis without Nasal Polyps (CRSsNP).
Poult Sci
January 2025
Animal Breeding and Genomics Centre, Wageningen University, 6709PG Wageningen, the Netherlands.
Feather pecking, related feather damage, and mortality are crucial welfare and efficiency traits in laying hens. When individuals are kept in sib groups, genetic analysis of feather scores captures the performer and receiver components of feather damage due to pecking. Genetic parameters and breeding values estimated from such data with an ordinary linear mixed model refer to total breeding values.
View Article and Find Full Text PDFRev Esp Patol
January 2025
Breast Surgery, Breast Unit, Hospital Universitario Austral, Buenos Aires, Argentina.
Malignant adenomyoepithelioma of the breast is a rare and challenging tumor in terms of diagnosis and treatment. It is exceptional to find this condition in a patient who has had breast cancer treated with breast-conserving surgery and radiotherapy. We present the case of a 46-year-old female patient with a history of invasive lobular carcinoma of the breast, who presented one year later with a malignant adenomyoepithelioma in the same breast, which recurred three times, despite undergoing various surgical treatments and even adjuvant chemotherapy regimen.
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