Results 61 to 70 of about 2,654 (190)

Primary ciliary dyskinesia diagnosis and management and its implications in America: a mini review

open access: yesFrontiers in Pediatrics, 2023
IntroductionPrimary ciliary dyskinesia (PCD) is a rare genetic disorder that can result in significant morbidity and mortality if left untreated. Clinical manifestations of PCD include recurrent respiratory infections, laterality defects, and infertility,
M. Castillo, E. Freire, V. I. Romero
doaj   +1 more source

Short-course oral steroids as an adjunct therapy for chronic rhinosinusitis [PDF]

open access: yes, 2015
BACKGROUND: This review is one of a suite of six Cochrane reviews looking at the primary medical management options for patients with chronic rhinosinusitis.Chronic rhinosinusitis is a common condition involving inflammation of the lining of the nose and
Cho   +19 more
core   +1 more source

Knowledge, Attitudes, and Practices of the General Population Regarding Peripheral Blood Chromosomal Testing in the Premarital or Preconception Context

open access: yesMolecular Genetics &Genomic Medicine, Volume 13, Issue 5, May 2025.
This cross‐sectional study was conducted from October 2023 to December 2023 at our Hospital of Hangzhou and enrolled individuals who participated in free premarital medical examination and free prepregnancy health examination. A self‐designed questionnaire (Cronbach's α = 0.917) was used to collect the demographic information and KAP scores.
Caixia Hu, Lulu Zhai, Hailian Wang
wiley   +1 more source

Individualized physical training in the therapy of Primary Ciliary Dyskinesia – A case report

open access: yesRespiratory Medicine Case Reports, 2019
Background: Primary Ciliary Dyskinesia (PCD) is an autosomal recessive disease, characterized by ciliary dysfunction and impaired mucociliary clearance. Previous studies have indicated a low physical fitness in PCD patients but currently it is not known ...
Moritz Schumann   +3 more
doaj   +1 more source

Fetal Corpus Callosum Anomalies

open access: yesJournal of Ultrasound in Medicine, Volume 44, Issue 4, Page 637-652, April 2025.
Anomalies of the corpus callosum (CC) are amongst the most common fetal Central Nervous System (CNS) anomalies detectable on ultrasound. Underlying genetic disease plays an important part in defining prognosis. Associations with aneuploidy and submicroscopic chromosomal deletions or duplications have been well demonstrated using chromosomal microarray ...
Valeria Lanzarone   +2 more
wiley   +1 more source

Diagnosis of Granulomatosis With Polyangiitis in a 39‐Year‐Old Woman With a Recent History of Traveling to Malaria‐Endemic Region: A Case Report

open access: yesClinical Case Reports, Volume 13, Issue 3, March 2025.
ABSTRACT Granulomatosis with Polyangiitis (GPA) is a rare vasculitis that can complicate the diagnostic process, especially in patients with complex medical histories. This case report details a 39‐year‐old woman with situs inversus totalis, Kartagener syndrome, and hypothyroidism, who presented to the emergency department with intermittent petechiae ...
Hanie Forouzandeh   +4 more
wiley   +1 more source

Primary Ciliary Dyskinesia Complicated by Stroke in an Elderly Male: A Case Report

open access: yesRespirology Case Reports, Volume 13, Issue 3, March 2025.
This report presents a unique case of primary ciliary dyskinesia, complicated by an ischemic cerebrovascular accident (CVA) in a patient with Kartagener syndrome. It underscores the diagnostic complexities and emphasises the need for prompt, multidisciplinary intervention to mitigate the risk of severe neurological outcomes.
Ali Gohar   +7 more
wiley   +1 more source

Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis [PDF]

open access: yes, 2011
We report 1 female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia.
Lopes, P, Silva, R, Vieira, JP
core  

Laparoscopic Cholecystectomy in Situs Inversus Totalis: A Case Report

open access: yesClinical Case Reports, Volume 13, Issue 2, February 2025.
ABSTRACT Situs inversus totalis is a rare condition characterized by the mirror image of the normal abdominal and thoracic viscera. Since the gallbladder is located in the left upper quadrant in this subset of patients, the diagnosis of symptomatic cholelithiasis poses a difficulty.
Prapti Lakhey   +3 more
wiley   +1 more source

Síndroma de Kartagener

open access: yesRevista Portuguesa de Pneumologia, 2005
Resumo: Apresentouse para atendimento uma mulher de 48 anos, branca, natural e procedente de Uberaba-MG, com quadro de dispneia em repouso, febre, tosse produtiva, escarro esverdeado e dor torácica ventilatório-dependente há 3 dias.
Kattia Cristina Naves   +3 more
doaj   +1 more source

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