Results 91 to 100 of about 1,221,132 (155)

Diagnostic challenges of primary ciliary dyskinesia in adults: clinical case

Известия высших учебных заведений. Поволжский регион: Медицинские науки
Background. In pediatric practice, there exists a rare and difficult-to-diagnose hereditary disorder known as Kartagener syndrome, which is a clinical manifestation of primary ciliary dyskinesia. A classic triad of signs characterizes this disease: situs
Anna A. Dyachkova, Evgeny A. Pudkov
doaj   +1 more source

Kartagener syndrome: Case report.

, 2017
Kartagener’s syndrome is an autosomal recessive disease, characterized by primary ciliary dyskinesia, which consists of ciliated cell dysfunction. This is the cause of the manifestation of the respiratory symptomatology that presents this syndrome-cough,
Fajardo, German, Cárcamo, Gloria, Rivera, Velia, Flores, Brigitte   +3 more
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A Trilogy of Submassive Pulmonary Embolism, Non-Small Cell Lung Cancer with Brain Metastasis, Kartagener's Syndrome and its Management with Aspiration Thrombectomy. [PDF]

Eur J Case Rep Intern Med, 2022
Singh V, Gor D, Padappayil RP, Jaffery A, Lee P.   +4 more
europepmc   +1 more source

Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome) [PDF]

, 2005
Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present
Marino, Bonnie, Capolino, Rossella, Digilio, Maria Cristina, Dallapiccola, B.   +3 more
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SITUS INVERSUS TOTALIS WITH LIVER ABCESS

Khyber Medical University Journal, 2009
A case of multiple liver abscesses in a patient with situs inversus totalis is presented. Initially the patient was treated conservatively and remained symptom free for 4 days of hospital stay. On a follow up visit after 1 week the patient had high grade
Tariq Saeed Mufti, Mansoor Khan, Mian Bilal Alam, Saeed Ehsan Mufti   +3 more
doaj  

A case of neuroleptic malignant syndrome on withdrawal of benzhexol [PDF]

, 2010
The neuroleptic malignant syndrome is a rare and potentially lethal reaction which is usually associated with the use of medications with antidopaminergic properties.
Ferry, Peter, Lofaro, Thomas, Falzon, Stephanie   +2 more
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Kartagener's Syndrome in a Child: a Six year Follow-up.

Nigerian Journal of Paediatrics
Summary: A four-year old boy with Kartagener's syndrome is reported because of its rarity and being the first case to our knowledge, to be documented in Nigeria. There was situs inversus with visceroatrial concordance.
Ahmed H , Alhassan K , Amole AO
doaj  

An Unexpected Case of Somatic Mosaicism of the Dutch p16-Leiden Founder Variant in the CDKN2A Gene

CDKN2A is the primary high-risk predisposition gene for familial cutaneous melanoma. In the Netherlands, most carriers of pathogenic germline variants in CDKN2A harbor a unique, population-specific founder variant, c.225_243del, commonly referred to as ...
M. E. van Leerdam, D. Terlouw, M. C. de Ruiter, N. van der Stoep, A. M. Onnekink, T. P. Potjer, J. Morreau, E. M. P. Steeghs, R. van Doorn, J. T. van Wezel, M. van der Meulen   +10 more
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ASIAN JOURNAL OF MEDICAL SCIENCES DOI:10.3126/ajms.v1i1.2605 Kartagener Syndrome: Congenital Variety of Primary Ciliary Dyskinesia with Infertility

, 2014
We report a rare case of Kartagener’s Syndrome, congenital variety of Primary Ciliary Dyskinesia (PCD) with infertility. The patient exhibited the classical triad of which was elucidated by Manes Kartagener in 1933.
Amitnandan D Dwivedi
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Fetal alcohol syndrome; guidelines for referral and diagnosis [PDF]

National Center on Birth Defects and Developmental Disabilities in coordination with National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect (American Academy of Pediatrics, American College of Obstetricians and Gynecologists, March of ...

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