About 630 results

ALLMedicine™ Macroglossia Center

Research & Reviews  233 results

Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not K...
European Journal of Medical Genetics; Urakawa T, Ozawa J et. al.

Nov 20th, 2022 - Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with characteristic features, such as overgrowth, macroglossia, and exomphalos. Hypomethylation of the KCNQ1OT1:TSS-differentially methylated region (DMR) on the 11p15.5 imprinted region ...

Familial Beckwith-Wiedemann syndrome in a multigenerational family: Forty years of care...
American Journal of Medical Genetics. Part A; Best LG, Duffy KA et. al.

Nov 3rd, 2022 - Beckwith-Wiedemann Spectrum (BWSp) is an overgrowth and cancer predisposition disorder characterized by a wide spectrum of phenotypic manifestations including macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embry...

Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile h...
BMC Pediatrics; Tan HY, Wang B et. al.

Oct 24th, 2022 - Infantile hypotonia with psychomotor retardation and characteristic facies type 3(IHPRF3) (OMIM #616,900) is an autosomal recessive disorder caused by biallelic pathogenic variants of the TBCK gene, and to date, this disease was reported rather li...

Risk factors for failed first intubation attempt in an out-of-hospital setting: a multi...
Internal and Emergency Medicine; Galinski M, Wrobel M et. al.

Oct 20th, 2022 - This study was performed to identify variables potentially associated with failure of the first intubation attempt in an out-of-hospital emergency setting, considering all aspects of tracheal intubation. This observational prospective multicenter ...

Macroglossia and less advanced dystrophic change in the tongue muscle of the Duchenne m...
Skeletal Muscle; Yamanouchi K, Tanaka Y et. al.

Oct 19th, 2022 - Duchenne muscular dystrophy (DMD) is an X-linked muscle disease caused by a complete lack of dystrophin, which stabilizes the plasma membrane of myofibers. The orofacial function is affected in an advanced stage of DMD and this often leads to an e...

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Clinicaltrials.gov  8 results

MSOT in Pompe Disease

Jun 6th, 2022 - Pompe disease (PD) is a rare, autosomal-recessive disorder caused by deficiency of the lysosomal acid alpha-glucosidase enzyme (GAA), leading to generalized build-up of glycogen, especially in the heart, muscle, liver and nervous system. Among the...

Impact of the Bougie on the Prehospital Setting Intubation Quality.

Dec 29th, 2021 - Tracheal intubation (TI) is a procedure that is frequently performed in an out-of-hospital emergency setting. TI is associated with a risk of adverse events, including severe sequelae such as hypoxemia, vomiting, aspiration, hypotension, and cardi...

Surgical Treatment of Children With OSA and Small Tonsils or Down Syndrome

Dec 13th, 2021 - Obstructive sleep apnea (OSA) is defined as repetitive obstruction of the upper airway during sleep and has been estimated to affect 1-6% of the general pediatric population. Untreated OSA in children has been associated with childhood hypertensio...

Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development

Aug 6th, 2021 - Background and Rationale Sotos Syndrome (SS) and Beckwith-Wiedemann Syndrome (BWS) are known as overgrowth syndromes as they involve alterations in dimensions of the whole body or of specific body parts. SS is characterized by advanced bone age, m...

Jugular Venous Flow Healthy Volunteers

Jun 4th, 2020 - The different positions used in neurosurgery (park bench, prone) for better accessibility to the operating field can impact on the cerebral venous drainage due to the effects of internal jugular venous outflow of blood and may increase intracrania...

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News  9 results

MGUS, SPEP, and the Shaka Sign

Feb 5th, 2021 - This transcript has been edited for clarity. Matthew F. Watto, MD: I am Dr Frank Watto, and that is Dr Stuart K. Brigham. With us is our good friend, Dr Paul Nelson Williams. Paul N. Williams, MD: This time around we are going to talk about our ep...

A Woman Whose Husband Died Has New-Onset Atrial Fibrillation and Fatigue

Sep 4th, 2020 - Anatomical deformities of the upper airway can play a role in the pathogenesis of airway closure in OSA. Deformities of craniofacial and soft-tissue structures obstruct the upper airway at various levels, especially the retropalatal and retrogloss...

Scleromyxedema in a Patient With Thyroid Disease: An Atypical Case or a Case for Revised Criteria?

Jan 17th, 2020 - Comment Classification Lichen myxedematosus is differentiated into localized and generalized forms. The former is limited to the skin and lacks monoclonal gammopathy.

TTR vs AL Cardiac Amyloidosis: Don't Rely on Imaging Alone

Jun 5th, 2019 - This transcript has been edited for clarity. Gayatri Acharya, MD: Greetings. I'm Dr Gayatri Acharya, cardiology fellow at Mayo Clinic. During today's roundtable, we'll be discussing cardiac amyloidosis (AL). I am joined by my colleagues, Dr Martha...

Periorbital ecchymoses and breathlessness
The Journal of Family Practice; Sudip Kumar Ghosh, MD, DNB, Biswajit Majumder, MD, DM, FACC et. al.

Aug 31st, 2017 - A 54-year-old man presented at our facility with a 3-month history of exertional breathlessness and purple blotches around his eyes. Examination revealed bilateral periorbital and perioral ecchymosis, purpuric spots along his waist, and waxy papul.

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Patient Education  2 results see all →