CiliaSitus inversusBronchiectasisKartagener'sDextrocardiaDiagnosisGeneticDisorderCiliaryOvarian syndromePrimarySymptomsHypoplasticSurgeryMutationsTreatmentPrevalenceDisordersComplicationPatientsDistinctiveClinicalDiagnosticAffectsChestConditionDefinitionHistoryCommonPeopleArticleCasesJournalGroupEnglishInclude
Cilia8
- Rare genetic disorders such as primary ciliary dyskinesia and Kartagener syndrome impair cilia structure and function. (rcjournal.com)
- Primary ciliary dyskinesia is a rare autosomal recessive inherited disease with the congenital abnormality of the primary cilia. (e-jer.org)
- Kartagener syndrome (KS) is a rare autosomal recessive genetic disorder characterized by defects in the ultrastructure of cilia impairing their motility. (5minuteconsult.com)
- Primary ciliary dyskinesia (PCD) is a genetically heterogeneous syndrome caused by defect in motile cilia. (journalmc.org)
- Primary ciliary dyskinesia (PCD), previously called immotile cilia syndrome (ICS), is a divers group of inherited structural and functional abnormalities affecting the cilia of the respiratory tract mucosa and other organs which results mainly in recurrent respiratory tract infections. (oldenglishsheepdogclubofamerica.org)
- Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. (web.app)
- Do not use in the case of abundant bronchial secretion and bronchial epithelial cilia (Kartagener syndrome, ciliary dyskinesia). (eliveragroup.com)
- PCD (also called Kartagener Syndrome) is a genetic disease where cilia -microscopic hairs lining the respiratory passages- fail to move or move abnormally. (rimuhc.ca)
Situs inversus11
- Kartagener's syndrome is a rare, autosomal recessive inherited disease, which is characterized by a triad of chronic sinusitis, bronchiectasis, and situs inversus. (e-jer.org)
- The triad of situs inversus, bronchiectasis, and chronic sinusitis became known as Kartagener's syndrome. (e-jer.org)
- In 1933, Kartagener described the PCD syndrome as the triad of situs inversus, bronchiectasis, and either nasal polyps or recurrent sinusitis, while the description by Afzelius in 1976 of the defects in the ultrastructure of ciliary dynein arms revealed the basis of this condition. (journalmc.org)
- Here we report a rare case of a young female with recurrent respiratory symptoms, dextrocardia, and situs inversus, who was misdiagnosed as a case of pulmonary tuberculosis and had received three courses of anti-tubercular therapy since year 2003, and finally diagnosed as Kartagener syndrome with severe pulmonary hypertension. (journalmc.org)
- Situs inversus with levocardia is rare,[11] and it is almost always associated with congenital heart disease. (medscape.com)
- however, only 50% of patients with Kartagener syndrome have situs inversus. (medscape.com)
- Dextrocardia with situs inversus totalis can manifest primary ciliary dyskinesia (Kartagener syndrome) caused by DNAI1 and DNAH5 gene mutations. (gbmn.org)
- Dextrocardia with situs inversus may also be associated with primary ciliary dyskinesia (known as Kartagener syndrome). (gbmn.org)
- Some dogs with PCD may present the "Kartagener's syndrome" which represents a triad of signs that includes bronchectasis, complete transposition of viscera (situs inversus) and chronic rhinosinusitis. (oldenglishsheepdogclubofamerica.org)
- In one dog, thoracic radiographs showed situs inversus of the viscera (i.e. the cardiac silhouette and the stomach were in dextroposition) indicating Kartagener's syndrome. (oldenglishsheepdogclubofamerica.org)
- La triade bronchectasies, sinusites et situs inversus caractérisent le syndrome de Kartagener. (bvsalud.org)
Bronchiectasis1
- Massive hemoptysis is a rare complication of bronchiectasis and requires surgery or pulmonary artery embolization. (amboss.com)
Kartagener's5
- In this report, we aimed to represent the effect of aerobic exercise training in addition to chest physiotherapy in an outpatient with Kartagener's syndrome. (e-jer.org)
- An 18-year-old female diagnosed with Kartagener's syndrome applied with the complaints of productive cough and dyspnea with exertion and attended pulmonary rehabilitation program comprising exercise training in addition to standard treatment. (e-jer.org)
- We recommend exercise training in patients with Kartagener's syndrome to increase exercise capacity. (e-jer.org)
- There is no randomized study in the treatment of primary ciliary dyskinesia/Kartagener's syndrome. (e-jer.org)
- An 18-year-old female Kartagener's syndrome diagnosed patient presented to our outpatient department with the complaints of chronic productive cough and progressive dyspnea with exertion. (e-jer.org)
Dextrocardia4
- A very serious syndrome that appears with dextrocardia is called heterotaxy. (medlineplus.gov)
- Dextrocardia is a rare cardiac disorder in which the heart is located in the right hemithorax, and the apex axis is oriented to the right. (gbmn.org)
- SAS1, CJP3: writing, En la evaluación médica se identificó dolor en los senos paranasales, dextrocardia y bronquiectasias, confirmados por los revising and editing. (bvsalud.org)
- Rajab TK, Kim T, Keller S, Mallidi H. Management of a young patient with dextrocardia, atrial septal defect, and Eisenmenger syndrome with venous-venous extracorporeal membrane oxygenation and heart-lung transplantation. (ucdenver.edu)
Diagnosis5
- Diagnosis and management charles kodner, md, university of louisville school of medicine, louisville, kentucky i n nephrotic syndrome, a variety of disorders cause. (web.app)
- The diagnosis of dyrk1arelated intellectual disability syndrome is established in a proband by identification of a heterozygous pathogenic variant in dyrk1a. (web.app)
- RARE-e-CONNECT provides tools for virtual consultations and e-learning to connect Cyprus healthcare with Europe and other countries in order to increase national benefit in rare disease diagnosis, management and research. (rare-e-connect.eu)
- Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective. (nih.gov)
- Congenital central hypoventilation syndrome: diagnosis and management. (nih.gov)
Genetic4
- There are a few known, but rare genetic conditions that affect male fertility or cause male-factor infertility. (givelegacy.com)
- Aarskog syndrome is a rare genetic condition characterized by short stature and multiple facial, limb and genital abnormalities. (web.app)
- Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. (web.app)
- Primary ciliary dyskinesia (PCD) is a rare, genetic, multi-organ disease characterised by significant genetic and clinical variability [ 1 , 2 ]. (ersjournals.com)
Disorder4
- Faciogenital dysplasia, also known as aarskog scott syndrome aas, is an xlinked dominant congenital disorder characterized by multiple facial, musculoskeletal, dental, neurological and. (web.app)
- Aarskogscott syndrome with attention deficithyperactivity disorder and a form of syndromic xlinked mental retardation mrxs16 are also caused by mutation in the fgd1 gene. (web.app)
- Aarskog syndrome facialdigitalgenital syndrome is an xlinked inherited disorder that causes multiple limb and genital abnormalities. (web.app)
- Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. (bvsalud.org)
Ciliary1
- Primary ciliary dyskinesia (PCD) is a rare inherited disease which affects ciliary structure and function. (ersjournals.com)
Ovarian syndrome2
- Clomiphene citrate (Clomid) tablets (taken orally) are usually used to treat women who suffer from poly cystic ovarian syndrome (PCOS). (bestinfertilitytreatment.com)
- In Meigs syndrome, the type of ovarian syndrome is fibroma, whereas in pseudo-Meigs syndrome cystadenoma, thecoma or a granulosa tumor types are prominent in ovary 5 . (syndromespedia.com)
Primary2
- The 2 primary subtypes of situs ambiguous include (1) right isomerism, or asplenia syndrome, and (2) left isomerism, or polysplenia syndrome. (medscape.com)
- The presence of ovarian mass is primary findings of Meigs syndrome. (syndromespedia.com)
Symptoms2
Hypoplastic1
- Takahashi K, Miyake A, Nakayashiro M. Hypoplastic left heart syndrome in PAGOD syndrome. (ucdenver.edu)
Surgery1
- Some patients with a history of ulcer surgery experience the dumping syndrome 30 min after eating. (blogspot.com)
Mutations1
- Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene. (bvsalud.org)
Treatment2
- Children with Kartagener syndrome will need repeated treatment with antibiotics for sinus and lung infections. (medlineplus.gov)
- Fournier's gangrene is a rare condition and delayed treatment results in fatal outcome. (blogspot.com)
Prevalence1
- Kartagener syndrome (KS) is an autosomal prevalence is 1/15 000 to 1/30 000 live births1. (bvsalud.org)
Disorders1
- The Host Organisation is Cyprus Alliance for Rare Disorders. (rare-e-connect.eu)
Complication1
- Atrophy of the testis can occur as a rare late complication when its blood supply is compromised during the operation. (ujahealth.com)
Patients1
- Seven Chinese Han patients with Kartagener syndrome were enrolled onto the present study. (bvsalud.org)
Distinctive2
- People with aarskogscott syndrome often have distinctive facial features, such as widely. (web.app)
- Peertechz appeals the authors to play a distinctive role in putting forward rare diseases as a much needed public health priority world-wide. (peertechzpublications.org)
Clinical2
- Nephrotic syndrome is an important clinical condition affecting both children and adults. (web.app)
- Freeman AM, Fenster BE, Weinberger HD, Buckner JK, Lynch D. Hypoxia caused by persistent left superior vena cava connecting to the left atrium a rare clinical entity. (ucdenver.edu)
Diagnostic1
- The different imaging diagnostic tools are used for correct detection of Meigs syndrome. (syndromespedia.com)
Affects2
Chest1
- The simple way to detect Meigs syndrome is chest examination and usual finding is dullness, because of effusion. (syndromespedia.com)
Condition2
- This condition is rare. (medlineplus.gov)
- This condition is called Kartagener syndrome. (medlineplus.gov)
History1
- The family history of ovarian cancer has a link with Meigs syndrome. (syndromespedia.com)
Common2
- Medial Shoulder Syndrome, Why is it Becoming so Common? (canappsportsmed.com)
- Why is Medial Shoulder Syndrome (MSS) becoming so common, and how do you prevent it? (canappsportsmed.com)
People1
- The Global Journal of Rare Diseases urges the prominent researchers, intensive writers and workaholic doctors to publish breakthrough manuscripts with Peertechz that can lead the way to studies leading to education, research and advocacy towards patient services to improve the lives of all people living with rare diseases. (peertechzpublications.org)
Journal2
- Pubmed is a searchable database of medical literature and lists journal articles that discuss aarskog syndrome. (web.app)
- The Global Journal of Rare Diseases welcome manuscripts on new researches, interesting discoveries related to the rare disease community. (peertechzpublications.org)
English1
- In dogs, PCD is a rare disease but reported in more than 19 breeds, including Old English sheepdogs. (oldenglishsheepdogclubofamerica.org)
Include1
- Rare complications include infections that can spread to the brain, bone, and area surrounding the eye. (georgetown-ent.com)