Results 111 to 120 of about 24,164 (339)
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
, 2018 Mucosal nasopharyngeal melanoma is a rare head and neck melanoma. Prognosis is poor (5-year overall survival rate of 10–30%) with high rates of metastases and local recurrence. Head and neck mucosal melanoma represents 0.8–3.7% of all melanomas and 0.03%
Calvieri, Stefano +4 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona +15 more
wiley +1 more source
Clinical Interventions in Aging, 2017 Victoria Larsson,1 Gustav Torisson,1,2 Margareta Bülow,3 Elisabet Londos1 1Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, 2Department of Infectious Diseases, 3Diagnostic Centre of Imaging and Functional ...
Larsson V +3 more
doaj
Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat +4 more
wiley +1 more source
Quality of life and deglutition after total laryngectomy
International Archives of Otorhinolaryngology, 2012 Introduction: Total laryngectomy creates deglutition disorders and causes a decrease in quality of life Aim: To describe the impact of swallowing and quality of life of patients after total laryngectomy. Method: A case series study.
Pernambuco, Leandro de Araújo +7 more
doaj
Use of the infra hyoid musculo-cutaneous flap in soft palate reconstruction. [PDF]
, 2006 To review a series of 23 consecutive patients with squamous cell carcinomas arising from oropharynx who underwent infra hyoid musculo-cutaneous flap reconstruction including soft palate in alternative to free radial forearm flap or maxillofacial ...
A. Deganello +8 more
core +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT This study explores youth violence towards police officers in Australia through the Power Threat Meaning Framework (PTMF) to better understand the underlying factors contributing to such violence; focusing on power dynamics, childhood adversity, and trauma.
Dimitra Lattas +4 more
wiley +1 more source
Functional morphology of the pharyngeal teeth of the ocean sunfish, Mola mola
The Anatomical Record, EarlyView.Abstract Many fish use a set of pharyngeal jaws in their throat to aid in prey capture and processing, particularly of large or complex prey. In this study—combining dissection, CT scanning, histology, and performance testing—we demonstrate a novel use of pharyngeal teeth in the ocean sunfish (Mola mola), a species for which pharyngeal jaw anatomy had ...
Benjamin Flaum +3 more
wiley +1 more source
Chronic pneumopathy secondary to swallowing disorder in a patient with mitochondrial myopathy
Iatreia, 2019 Introduction: Chronic lung disease secondary to dysphagia is a frequent complication in patients with neuromuscular diseases. Mitochondrial myopathies could lead to progressive lung damage due to chronic aspiration syndrome. Clinical case: Seven-year-
Palacio Petri, Silvia +2 more
doaj +1 more source