Results 91 to 100 of about 594,005 (300)

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

open access: yesAmerican 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   +13 more
wiley   +1 more source

Long term results of idiopathic hemifacial palsy: Orthodontic and surgical multidisciplinary management

open access: yesOral and Maxillofacial Surgery Cases, 2017
Idiopathic facial palsy is the most common cause of unilateral neurologic disorders of the cranial nerves.It can result from congenital, due to delivery traumas, and genetic or malformative diseases, or acquired due to infective, inflammatory, neoplastic,
Cinzia Maspero   +3 more
doaj   +1 more source

An International Collaborative Standardizing Patient-Centered Outcome Measures in Pediatric Facial Palsy

open access: yesJAMA Facial Plastic Surgery, 2019
Importance Standardization of outcome measurement using a patient-centered approach in pediatric facial palsy may help aid the advancement of clinical care in this population.
D. Butler   +21 more
semanticscholar   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi   +20 more
wiley   +1 more source

Acoustic Reflex and House-Brackmann Rating Scale as Prognostic Indicators of Peripheral Facial Palsy in Neuroborreliosis

open access: yesActa Clinica Croatica, 2017
Lyme borreliosis is a vector-borne infectious disease characterized by three disease stages. In the areas endemic for borreliosis, every acute facial palsy indicates serologic testing and implies specifi c approach to the disease.
Alen Sekelj, Davorin Đanić
doaj   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir   +6 more
wiley   +1 more source

Incidence and characteristics of Lyme neuroborreliosis in adult patients with facial palsy in an endemic area in the Netherlands

open access: yesEpidemiology and Infection, 2019
Making a distinction between facial palsy due to Lyme neuroborreliosis (LNB) and idiopathic facial palsy (IFP) is of importance to ensure timely and adequate treatment.
S. Bierman   +8 more
semanticscholar   +1 more source

‘Turkeys Cannot Vote for Christmas’: Why Epistemic Disobedience in an Anti‐Black World Matters

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Never in the history of global coloniality has the idea of epistemic disobedience been as important as in the 21st century. This is not only because the struggle for decolonisation has shifted from physical confrontation between the coloniser and the colonised into a battle of ideas but also because the former has deployed the idea of ...
Morgan Ndlovu
wiley   +1 more source

Immediate Postoperative Bell's Palsy: Viral Etiology or Post-Traumatic Phenomena?

open access: yesDental Hypotheses, 2010
Introduction: Bell’s palsy is a sudden unilateral paralysis of the facial nerve. Postoperative Bell’s palsy following surgery is rare. It occurs in less than 1% of operations. The hypothesis: We premise that the main cause of immediate postoperative Bell'
Mohammad Ghasem Shams   +2 more
doaj  

Facial palsy: when and why to refer for specialist care.

open access: yesThe British journal of general practice : the journal of the Royal College of General Practitioners, 2019
Facial paralysis causes significant functional and psychological morbidity, including anxiety and depression.1 The muscles of facial expression play a critical role in protecting the eye, maintaining oral competence, and are essential for portraying ...
D. Butler   +3 more
semanticscholar   +1 more source

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