Results 161 to 170 of about 2,289,707 (361)

Base of Endoscopic Ear Surgery

Endoscopic ear surgery is developing rapidly. This article aimed to review the rationale with advantages and disadvantages of endoscopic ear surgery compared to microscopic ear surgery as well as the current indications in the field of otology and ...
Camille Levie, Patrick Levie
core   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Striking Bone Marrow Plasmacytosis Resulting From Visceral Leishmaniasis

American Journal of Hematology, EarlyView.
Vishakha Sovani, Jennifer Ryan, Barbara J. Bain   +2 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

ENDOSCOPIC TYPMPANOMASTOID EXPLORATION [FUNCTIONAL ENDOSCOPIC EAR SURGERY-FEES]

, 2012
Tympano mastoidectomy is usually performed using operating microscope. This study reports a case series of tympanomastoidectomy which was performed using an endoscope.Endoscopic Tympanomastoidectomy for atticoantral type of CSOM is an excellent technique 
Ramamoorthy, Muthukumar; Stanley Medical College, Thiagarajan, Balasubramanian; Stanley Medical College, Kumar, Sanjay; Stanley Medical College   +2 more
core  

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Mucosal melanocytic lesion in the middle ear extending to the inner ear and nasopharynx

Ear, Nose & Throat Journal
Benign dendritic melanocytic proliferation is usually observed in the skin. We report an extremely rare case of a melanocytic lesion in the middle ear mucosa. Only 3 cases of melanocytic lesions in the middle ear have been reported.
Khalid Suwayyid Alomar MD, Yazeed Ali Al-shawi MD, Farid Alzhrani MD   +2 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

The effect of zoledronic acid on middle ear osteoporosis: An animal study

, 2018
PubMedID: 30481855Hearing function in older patients may be related to bone structure. We conducted an experiment to evaluate the effect of zoledronic acid on osteoporotic middle ear ossicles in an animal model.
Tarkan O., Surmelioglu O., Aydogan F.K., Tuncer U., Uguz A., Ozdemir S., Aydogan L.B.   +6 more
core  

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source