Search results for "abnormal"

The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN

2022

Primary ciliary dyskinesia; Rare genetic disorder; Lung diseases Discinesia ciliar primaria; Trastorno genético raro; Enfermedades pulmonares Discinesia ciliar primària; Trastorn genètic rar; Malalties pulmonars Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by impaired mucociliary clearance leading to irreversible lung damage. In contrast to other rare lung diseases like cystic fibrosis (CF), there are only few clinical trials and limited evidence-based treatments. Management is mainly based on expert opinions and treatment is challenging due to a wide range of clinical manifestations and disease severity. To improve clinical and translational research and facili…

Spanish multicentre study on morbidity and pathogenicity of tracheal bronchus in children.

2019

Tracheal bronchus (TRB) has been generally considered an anatomical variant of the tracheobronchial tree without a precise pathological effect. Its prevalence is estimated to be between 0.2% to 3% of all children undergoing bronchoscopy and scientific information has been limited to case reports or small case series. Our working hypothesis was that TRB could trigger by itself recurrent or persistent respiratory symptoms. The objective of this retrospective and multicentre study of children with a diagnosis of TRB, coming from the main paediatric pulmonology units of Spain, was to determine the anatomical and clinical characteristics, including comorbidities, of TRB in childhood and their im…

Pulmonary microvascular architecture in hereditary haemorrhagic telangiectasia

2017

A 24-year-old Caucasian man was admitted with a known hereditary haemorrhagic telangiectasia (HHT) and heterozygous mutation of factor V Leiden following episodes of cerebral infarctions in occipital lobes, cerebellum and brainstem. In his case history, the patient underwent several interventional embolisation of arteriovenous (AV) malformations in the middle and lower lobes (figure 1). However, those were not completely successful as the malformations were diffuse. We performed video-assisted thoracoscopic surgery with a resection of the middle lobe and a wedge resection of segment 10. Figure 1 CT scans depict the pulmonary arteriovenous malformations after re-embolisation in the middle lo…

Shedding some light on tricuspid intervention

2021

Background More than 1.6 million Americans have at least moderate to severe valvular tricuspid regurgitation, yet fewer than 8000 tricuspid valve operations are performed annually in the USA. The undertreatment for isolated tricuspid regurgitation might be related to the fact that in the past years no clear guidelines on 'how' and 'when' to treat tricuspid regurgitation were issued. Aims Sarris-Michopoulos and colleagues carried out a meta-analysis with the aim to investigate the role of tricuspid valve repair versus tricuspid valve replacement in patients with isolated tricuspid valve regurgitation. Material and methods Outcomes of patients with first-time surgery for isolated tricuspid va…

The Contribution of Small-Airway Abnormalities in Chronic Obstructive Pulmonary Disease Clinical Manifestations: More than a Functional Issue.

2016

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

2015

Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous splice site mutation in KIAA0586 (alias TALPID3), a known lethal ciliopathy locus in model organisms. Truncating KIAA0586 mutations were identified in two additional patients with JBTS. One mutation, c.428delG (p.Arg143Lysfs*4), is unexpectedly common in the general population and may be a major contributor to JBTS. We demonstrate KIAA0586 protein localization at the basal body in human and mouse p…

Pervasive body sensing: Implanted RFID tags for vascular monitoring

2010

Beside the common logistic usages of the Radio Frequency Identification (RFID) technology, one of the most innovative and promising applications is the possibility to process the backscattering signals to detect additional information about the target, such as its state and its evolution, without any specific embedded sensor or local power supply. The rationale of this idea lies in the clear dependence of the tag's input impedance and reflectivity on the physical and geometrical features of a real target. When the object where the tag is attached on undergoes some changes along with the time, the tag's electrical features also change and these variations can be remotely detected by the read…

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families

2005

Retinitis pigmentosa is the most common form of retinal degeneration and is heterogeneous both clinically and genetically. The autosomal dominant forms ( ADRP) can be caused by mutations in 12 different genes. This report describes the first simultaneous mutation analysis of all the known ADRP genes in the same population, represented by 43 Italian families. This analysis allowed the identification of causative mutations in 12 of the families (28% of the total). Seven different mutations were identified, two of which are novel (458delC and 6901C --> T (P2301S), in the CRX and PRPF8 genes, respectively). Several novel polymorphisms leading to amino acid changes in the FSCN2, NRL, IMPDH1, and…

Retinal Sensibility to Drugs in Normal Rats and Carriers of Inherited Retinal Degeneration

1972

Secondary retinitis pigmentosa of pseudo-retinitis pigmentosa can be brought about by certain diseases, especially exanthematic or viral ones.

Protective effect of adenylate deaminase (from Penicillium lanoso-viride) against acute infections in mice

1996

We examined the effects of the immunomodulator-adenylate deaminase (E.C. 3.5.4.6) from Penicillium lanoso-viride on experimental mice infections. Prophylactic intraperitoneal administration of adenylate deaminase (ADA) increased survival time and numbers of survivors after infection with Salmonella typhimurium, Pseudomonas aeruginosa and influenza A (H3N2) virus. Protection against influenza virus after intranasal ADA application was also observed. The influence of ADA was time and dose dependent. The most pronounced protection was obtained by administration of 3 U ADA/mice 24 h prior to infection. ADA had no antibiotic effect against these bacterial strains. Protective effects of ADA were …