Search results for "ilium"

IFT46 Expression in the Nasal Mucosa of Primary Ciliary Dyskinesia Patients: Preliminary Study

2021

Este artículo se encuentra disponible en la siguiente URL: https://journals.sagepub.com/doi/pdf/10.1177/2152656721989288 Background: Primary ciliary dyskinesia (PCD) is characterised by an imbalance in mucociliary clearance leading to chronic respiratory infections. Cilia length is considered to be a contributing factor in cilia movement. Recently, IFT46 protein has been related to cilia length. Therefore, this work aims to study IFT46 expression in a PCD patients cohort and analyse its relationship with cilia length and function, as it was not previously described. Materials and methods: The expression of one intraflagellar transport (IFT46) and two regulating ciliary architecture (FOXJ1 a…

2020

X-chromosomal retinitis pigmentosa (RP) frequently is caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. We evaluated the potential of PTC124 (Ataluren, TranslamaTM) treatment to promote ribosomal read-through of premature termination codons (PTC) in RPGR. Expression constructs in HEK293T cells showed that the efficacy of read-through reagents is higher for UGA than UAA PTCs. We identified the novel hemizygous nonsense mutation c.1154T > A, p.Leu385* (NM_000328.3) causing a UAA PTC in RPGR and generated patient-derived fibroblasts. Immunocytochemistry of serum-starved control fibroblasts showed the RPGR protein in a dot-like expression pattern along the primary…

Primary ciliary dyskinesia in adults with bronchiectasis: Data from the Embarc registry

2018

Introduction: Primary ciliary dyskinesia (PCD) is an inherited cause of bronchiectasis where defects in motile cilia result in failure to clear mucus. Individuals have life-long productive cough and recurrent infections Methods: The embarc registry is a prospective pan-European observational study of adults with bronchiectasis. Data entered into the registry between March 2015 and Jan 2018 was assessed. Disease severity in PCD was compared to two age and gender matched cohorts, the first consisting of individuals with immune deficiency and a second with idiopathic disease. Results: 287/11204 individuals (2.6%) were reported to have PCD. 65% were female, reflecting the female predominance in…

Primary ciliary dyskinesia assessment by means of optical flow analysis of phase-contrast microscopy images

2014

Primary ciliary dyskinesia implies cilia with defective or total absence of motility, which may result in sinusitis, chronic bronchitis, bronchiectasis and male infertility. Diagnosis can be difficult and is based on an abnormal ciliary beat frequency (CBF) and beat pattern. In this paper, we present a method to determine CBF of isolated cells through the analysis of phase-contrast microscopy images, estimating cilia motion by means of an optical flow algorithm. After having analyzed 28 image sequences (14 with a normal beat pattern and 14 with a dyskinetic pattern), the normal group presented a CBF of 5.2 +/- 1.6 Hz, while the dyskinetic patients presented a 1.9 +/- 0.9 Hz CBF. The cutoff …

A systematic review on regenerative alveolar graft materials in clinical trials

2021

Abstract Background Alveolar cleft grafting is a necessary procedure to restore bone defects. Randomized clinical trials (RCTs) are regarded as a golden standard for investigating the efficacy of treatments. Nevertheless, risk of bias (RoB) can still affect the validity of these trials. We aimed to conduct a systemic review of all control trials (CTs) using regenerative materials for alveolar cleft reconstructions to evaluate their RoB and perform a meta-analysis of new bone formation. Methods Cochrane Oral Health Group's Trials Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE (PubMed), EMBASE AND Google Scholar were searched up to October 2020. Thereafter, th…

LSC Abstract – Oxidative stress in nasal epithelial cells from patients with primary ciliary dyskinesia

2016

Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive inheritance disorder characterized by dysfunction of respiratory cilia and impaired mucociliary clearance, leading to respiratory problems appearing in childhood, decreased fertility and situs inversus in 50% of the cases. The deficient ciliary movement causes stasis of secretions in the airways leading to recurrent airway infection and chronic inflammation. Rationale and aims: Chronic inflammation has been associated to oxidative stress (OS). Moreover, evidence of increased OS in the airways of stable children with PCD has been shown (Zihlif, N. et al . Pediatr Pulmonol 2006; 41:509-14.). Therefore, we hypothesize t…

OFD1mutations in males: phenotypic spectrum and ciliary basal body docking impairment

2012

The "critical zones" of entrapment of the nerves of the lower limb.

1991

The author has studied, in a group of 40 dissections on cadavers of individuals of different ages, the main “critical zones” of entrapment of some terminal branches of the lumbo-sacral plexus, which include canals (fibrous, osteo-fibrous, fibro-muscular), intervals (intermuscular, fibro-muscular, musculo-ligamentous), rings (fibrous or fibro-muscular) and foramina. They provide the topographical anatomical basis for possible compressive phenomena of the nerves of the lower limb.

Pelvic girdle morphology in Stagonolepis, with remarks on aetosaur systematics

2022

In recent years, the Upper Triassic deposits at Krasiejów (south-west Poland) have yielded several tetrapod taxa, both aquatic and terrestrial. Stagonolepis olenkae is one of the terrestrial vertebrates recovered there; a quadrupedal, armoured aetosaur, which belonged to the crocodile-line archosaurs with a characteristic shovel-shaped snout. Several previous studies (osteological, histological and taphonomic) have attempted to understand the mode of life, growth pattern and possible dimorphism of this species and on this basis, to interpret palaeoecological, palaeoclimatic and stratigraphical implications. So far, the pelvic girdle of S. olenkae from Krasiejów remained undescribed. Here, t…

Następcza niemożliwość świadczenia producenta rolnego z umowy kontraktacji

2020

Niniejsze opracowanie poświęcone jest zagadnieniu następczej niemożliwości świadczenia producenta rolnego z umowy kontraktacji w sytuacji, gdy brak możliwości wykonania zobowiązania jest następstwem okoliczności, za które żadna ze stron nie ponosi odpowiedzialności. Ustawodawca w sposób szczególny uregulował przypadek niemożliwości świadczenia producenta rolnego w art. 622 Kodeksu cywilnego. Niemniej dla pełnej analizy tego zagadnienia niezbędne jest sięgnięcie do przepisów części ogólnej prawa zobowiązań. Obecna regulacja prawna w sposób zbyt niesymetryczny obciąża ryzykiem producenta rolnego. Do aktualnego stanu prawnego odniesiono się zatem w sposób krytyczny