from #Audiology via xlomafota13 on Inoreader http://ift.tt/2igQeKB
via IFTTT
OtoRhinoLaryngology by Sfakianakis G.Alexandros Sfakianakis G.Alexandros,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,tel : 00302841026182,00306932607174
Related Articles |
Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family.
World J Orthop. 2016 Dec 18;7(12):839-842
Authors: Leonidou A, Irving M, Holden S, Katchburian M
Abstract
Proximal symphalangism (SYM1B) (OMIM 615298) is an autosomal dominant developmental disorder affecting joint fusion. It is characterized by variable fusions of the proximal interphalangeal joints of the hands, typically of the ring and little finger, with the thumb typically being spared. SYM1 is frequently associated with coalition of tarsal bones and conductive hearing loss. Molecular studies have identified two possible genetic aetiologies for this syndrome, NOG and GDF5. We herein present a British caucasian family with SYM1B caused by a mutation of the GDF5 gene. A mother and her three children presented to the orthopaedic outpatient department predominantly for feet related problems. All patients had multiple tarsal coalitions and hand involvement in the form of either brachydactyly or symphalangism of the proximal and middle phalanx of the little fingers. Genetic testing in the eldest child and his mother identified a heterozygous missense mutation in GDF5 c.1313G>T (p.R438L), thereby establishing SYM1B as the cause of the orthopaedic problems in this family. There were no mutations identified in the NOG gene. This report highlights the importance of thorough history taking, including a three generation family history, and detailed clinical examination of children with fixed planovalgus feet and other family members to detect rare skeletal dysplasia conditions causing pain and deformity, and provides details of the spectrum of problems associated with SYM1B.
PMID: 28032038 [PubMed]
Related Articles |
Vici syndrome in siblings born to consanguineous parents.
Am J Med Genet A. 2016 Jan;170A(1):220-5
Authors: Tasdemir S, Sahin I, Cayır A, Yuce I, Ceylaner S, Tatar A
Abstract
Vici syndrome (OMIM 242840) is a rare syndrome and since its initial description by Vici et al. [1988], only 29 cases have been reported. We describe two brothers from healthy consanguineous Turkish parents with psychomotor delay, congenital bilateral cataracts, high palate, long philtrum, micrognathia, fair hair, and skin. They both had general hypotonia and elevated muscle enzymes. Magnetic resonance imaging (MRI) of the brain confirmed agenesis of corpus callosum in both patients. Secundum type atrial septal defect (in Patient 1) and mild mitral, tricuspid, and pulmonary insufficiency (in Patient 2) were detected by echocardiographic examination. Immunological studies were normal, as were chromosome karyotype analyses (46, XY). Both children had bilateral cutaneous syndactyly between second and third toes and also bilateral sensorineural hearing loss. Patient 1 had poor feeding and regurgitation necessitating a feeding tube; mild laryngomalacia was subsequently detected by bronchoscopy. Mutation analysis in patient 2 showed a homozygous p.R2483* (c.7447C > T) mutation in EPG5 gene. We report a summary of the clinical findings in our patients and 29 cases from the literature.
PMID: 26395118 [PubMed - indexed for MEDLINE]
Related Articles |
AHNS Series--Do you know your guidelines? Guideline recommended follow-up and surveillance of head and neck cancer survivors.
Head Neck. 2016 Feb;38(2):168-74
Authors: Roman BR, Goldenberg D, Givi B, Education Committee of American Head and Neck Society (AHNS)
Abstract
In this first article of the "Do You Know Your Guidelines" series, we review National Comprehensive Cancer Network (NCCN) recommendations and underlying evidence for the follow-up and surveillance of head and neck cancer survivors. The goals of follow-up and surveillance care are (1) to maximize long-term oncologic outcomes of therapy with appropriate evaluation for recurrence, (2) to maximize functional and quality of life outcomes, and (3) minimizing unnecessary and harmful low-value care. Finding the right balance of testing and surveillance is a challenge for providers and patients. Herein, we review all NCCN recommendations for head and neck cancer survivors. We pay particular attention to an area of controversy: the use of ongoing surveillance imaging, in particular, PET/CT scans.
PMID: 25916656 [PubMed - indexed for MEDLINE]
Related Articles |
AHNS Series--Do you know your guidelines? Guideline recommended follow-up and surveillance of head and neck cancer survivors.
Head Neck. 2016 Feb;38(2):168-74
Authors: Roman BR, Goldenberg D, Givi B, Education Committee of American Head and Neck Society (AHNS)
Abstract
In this first article of the "Do You Know Your Guidelines" series, we review National Comprehensive Cancer Network (NCCN) recommendations and underlying evidence for the follow-up and surveillance of head and neck cancer survivors. The goals of follow-up and surveillance care are (1) to maximize long-term oncologic outcomes of therapy with appropriate evaluation for recurrence, (2) to maximize functional and quality of life outcomes, and (3) minimizing unnecessary and harmful low-value care. Finding the right balance of testing and surveillance is a challenge for providers and patients. Herein, we review all NCCN recommendations for head and neck cancer survivors. We pay particular attention to an area of controversy: the use of ongoing surveillance imaging, in particular, PET/CT scans.
PMID: 25916656 [PubMed - indexed for MEDLINE]