Results 51 to 60 of about 726,961 (271)
Placenta-derived CXCL1 is associated with fetal renal dysplasia upon gestational cadmium treatment
Ecotoxicology and Environmental SafetyCongenital anomalies of the kidney and urinary tract are the leading cause of chronic kidney disease in children. Cadmium (Cd is a developmental toxicant that acts primarily by impairing placental function.
Lan-Lan Wu +17 more
doaj +1 more source
Zdorovʹe Rebenka, 2016 Introduction. The issue of congenital urinary defects in young children becomes more apparent due to the annual increase in the number of patients. One of the most frequent pathologies is vesicoureteral reflux.
N.S. Lukyanenko +2 more
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Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management [PDF]
, 1996 Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age.
Bailey, CM +3 more
core
TTC21B: From Modifier to Causative Gene in Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri +5 more
wiley +1 more source
Apollo Medicine, 2019 Müllerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia (MURCS) association is a rare and unusual constellation of nonrandom findings that include Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. The agenesis of
Reddy Ravikanth, Pooja Majumdar
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Renal artery stenting in a patient with renovascular hypertension
Liječnički vjesnik, 2023 Renal artery stenosis can be caused by fibromuscular dysplasia or, more often, atherosclerotic disease. It can result in hypertension, recurrent heart failure, pulmonary edema, acute coronary syndrome or progressive renal failure.
Lucija Čolaković +4 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa +4 more
wiley +1 more source
A rare case of renal dysplasia: prenatal and postnatal management
, 2013 The ultrasonographic detection of renal anomalies may modify obstetric management and facilitate pediatric care of the newborn. We performed prenatal differential diagnosis of an isolated unilateral cystic renal mass (71 × 74 × 82 mm) in a pregnant woman
Pellegrino, Marcella +5 more
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From Interferon Signature to the Clinical Landscape: Type I Interferonopathies
Arthritis &Rheumatology, EarlyView.Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz +13 more
wiley +1 more source
Consensus on the management of posterior urethral valves from antenatal period to puberty
Journal of Indian Association of Pediatric Surgeons, 2019 The need for successful management of posterior urethral valves always captivates the minds of pediatric surgeons. Its success, however, depends on several factors ranging from prenatal preservation of upper tracts to postoperative pharmacological ...
Shilpa Sharma +13 more
doaj +1 more source