Primary ciliary dyskinesia (PCD) is an inherited disease related to ciliary dysfunction, with heterogeneity in clinical presentation and in ciliary ultrastructural defect. Our study intended to determine if there are phenotypic differences in patients with PCD based on ciliary ultrastructural abnormality. In this retrospective study carried out among 60 children with a definitive diagnosis of PCD, we analyzed clinical, radiological, and functional features at diagnosis and at last recorded visit, according to cilia defect (absence of dynein arms: DAD group, n = 36; abnormalities of the central complex: CCA group, n = 24). Onset of respiratory symptoms occurred later in the CCA than in the DAD group (9.5 versus 0.5 months, p = 0.03). Situs inversus was only observed in the DAD group, while respiratory disease in siblings were more frequent in the CCA group (p = 0.003). At diagnosis, clinical presentation was more severe in the CCA group: frequency of respiratory tract infections (p = 0.008), rhinosinusitis (p = 0.02), otitis complications (p = 0.0001), bilateral bronchiectasis (p = 0.04), and number of hypoxemic patients (p = 0.03). Pulmonary function remained stable in both groups, but outcome was better in the CCA than in the DAD group: less antibiotic therapy and hypoxemic patients (p = 0.004). In conclusion, our results underlined the relationship between the severity of clinical presentation and the ultrastructural ciliary defect.
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http://dx.doi.org/10.1007/s00431-013-1996-5 | DOI Listing |
J Ethnopharmacol
January 2025
Center for Sustainable Development, College of Arts and Sciences, Qatar University, Doha 2713, Qatar. Electronic address:
Ethnopharmacological Relevance: Benign prostatic hyperplasia (BPH) is one of the most prominent diseases of the aged men urinary system. It is associated with cellular proliferation, hormonal imbalance, oxidative stress, inflammation and apoptosis. Traditionally, Thymelaea hirsuta (L.
View Article and Find Full Text PDFJ Neurol Neurosurg Psychiatry
January 2025
Schools of Nursing, Medicine and Public Health, Johns Hopkins University, Baltimore, Maryland, USA.
Background: We investigated the effectiveness of an Interdisciplinary Home-bAsed Reablement Programme (I-HARP) on improving functional independence, health and well-being of people with dementia, family carer outcomes and costs.
Method: A multicentre pragmatic parallel-arm randomised controlled trial compared I-HARP to usual care in community-dwelling people with mild to moderate dementia and their family carers in Sydney, Australia (2018-2022). I-HARP is a 4-month, home-based, dementia rehabilitation model delivered by an interdisciplinary team.
Med Teach
January 2025
Tufts University School of Medicine, Boston, Massachusetts, USA.
Purpose: To explore graduating medical students' insights on the value of coaching experiences during each year of medical school while examining how coaching may support student development at various stages of training.
Methods: We invited all graduating students who participated in the coaching program from first through fourth year to participate in one 90-minute virtual focus group. We conducted a thematic analysis of all the focus group transcripts using inductive open coding to develop themes.
Hip Int
January 2025
Colorado Joint Replacement, Denver, CO, USA.
Introduction: A primary objective when performing a total hip arthroplasty (THA) is to restore hip biomechanics in accordance with a chosen surgical plan. The aim of this study was to assess the accuracy of a 3D-printed patient-specific guide for delivering a planned femoral osteotomy for both a posterior and an anterior approach.
Methodology: 40 patients (20 anterior and 20 posterior) scheduled for THA received a preoperative work-up allowing for patient-specific implant sizing and positioning.
Beilstein J Org Chem
December 2024
College of Chemistry and Material Science, Guangdong University of Education, Guangzhou 510303, China.
A novel series of D-A-D-type 9-phenyl-9-phosphafluorene oxide (PhFlOP) derivatives was prepared and is reported herein. The synthetic protocol involved 5 steps from commercially available 2-bromo-4-fluoro-1-nitrobenzene, featuring a noble-metal-free system, mild reaction conditions, and a good yield, especially for the final CsCO-facilitated nucleophilic substitution (77-91% yield). The characterization data obtained from IR and NMR spectroscopy (H, C, F, and P) as well as HRMS spectrometry were in full agreement with the expected structures, and single-crystal X-ray diffraction analysis was conducted to confirm the structure of compound .
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