Results 121 to 130 of about 2,817,125 (290)

Towards sustainable multidisciplinary renal cancer tumour boards: redesigning the referral pathway

open access: yesBJU International, EarlyView.
Objectives To develop and evaluate a complexity‐stratified referral pathway aimed at improving the sustainability, efficiency and resource utilisation of specialist multidisciplinary team (SMDT) meetings within a high‐volume tertiary renal cancer service.
Bhargab Ghoshal   +11 more
wiley   +1 more source

AOSNP‐ADAPTR resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other embryonal tumors

open access: yesBrain Pathology, EarlyView.
Resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other CNS embryonal tumors are provided. Abstract WHO CNS5 mandates integrated histo‐molecular classification of medulloblastomas (MBs) and other CNS embryonal tumors. However, advanced molecular diagnostics remain inaccessible in many low‐ and lower‐middle‐
Chitra Sarkar   +12 more
wiley   +1 more source

Current Approaches to Support Patients to Withdraw From Image and Performance Enhancing Drugs

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Image and performance‐enhancing drugs (IPEDs) include agents such as androgens, growth hormone, and erythropoietin, which are used to enhance appearance and physical performance. Androgens, also known as anabolic‐androgenic steroids (AAS), are the most used IPEDs worldwide.
Elizabeth Hyams   +3 more
wiley   +1 more source

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients

open access: yesClinical Genetics, EarlyView.
Genetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Amal Abdmouleh   +12 more
wiley   +1 more source

Pediatric cystic diseases of the kidney

open access: yes, 2019
Pediatric renal cystic diseases include a variety of hereditary or non-hereditary conditions. Numerous classifications exist and new data are continuously published. Ultrasound is the primary technique for evaluating kidneys in children: conventional and
Ferro F.   +9 more
core   +1 more source

Human iPSC‐Derived Vascularised Lung Organoids for Modelling COPD and Pulmonary Hypertension

open access: yesCell Proliferation, EarlyView.
Vascularised lung organoids (vLOs) that faithfully mimic human lung tissue architecture and disease pathology are critical for advancing pulmonary research but remain challenging to generate. Here, we developed a robust self‐organisation protocol to produce vLOs with cellular heterogeneity and functional vasculature. The engineered blood vessels within
Simin Jiang   +14 more
wiley   +1 more source

Clinical Scenarios in Chronic Kidney Disease: Cystic Renal Diseases

open access: yes, 2016
Cysts are frequently found in chronic kidney disease (CKD) and they have a different prognostic significance depending on the clinical context. Simple solitary parenchymal cysts and peripelvic cysts are very common and they have no clinical significance.
PETRUCCI, Ilaria   +5 more
core   +1 more source

Primary Nodal Poroid Hidradenocarcinoma With YAP1::NUTM1 Fusion: Report of a Rare Case

open access: yesJournal of Cutaneous Pathology, EarlyView.
ABSTRACT Poroid hidradenocarcinoma is a rare malignant sweat gland neoplasm. Although primary nodal hidradenoma has been reported, primary nodal poroid hidradenocarcinoma has not been described. We report a case of a 56‐year‐old man presenting with a nontender 5.5 cm mass within the axillary lymph node, and no identifiable primary cutaneous lesion on ...
Niloufar Hosseini   +5 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu   +5 more
wiley   +1 more source

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

open access: yesDiabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang   +5 more
wiley   +1 more source

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