Thomas Pepper
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View article: Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing
Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing Open
Introduction Chronic granulomatous disease is caused by mutations in any of the 6 components of the phagocytic NADPH oxidase complex including gp91 phox , p47 phox , p22 phox , p40 phox , p67 phox , or EROS. Functional assays include react…
View article: mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node
mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node Open
Mechanistic target of rapamycin (mTOR) is a highly conserved serine/threonine kinase that regulates key cellular processes including cell growth, autophagy and metabolism. Hyperactivation of the mTOR pathway causes a group of rare and ultr…
View article: Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability
Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability Open
Social attention is a key aspect of neurodevelopment and is significantly altered in neurodevelopmental genetic syndromes and many individuals with idiopathic autism spectrum disorder (ASD). The primary aim of the present study was to exam…
View article: Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes
Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes Open
This study focused on the development and initial psychometric evaluation of a set of online, webcam‐collected, and artificial intelligence‐derived patient performance measures for neurodevelopmental genetic syndromes (NDGS). Initial testi…
View article: Development of informant‐report neurobehavioral survey scales for <scp>PTEN</scp> hamartoma tumor syndrome and related neurodevelopmental genetic syndromes
Development of informant‐report neurobehavioral survey scales for <span>PTEN</span> hamartoma tumor syndrome and related neurodevelopmental genetic syndromes Open
There are few well‐validated measures that are appropriate for assessing the full range of neurobehavioral presentations in PTEN hamartoma tumor syndrome (PHTS) and other neurodevelopmental genetic syndromes (NDGS). As potential therapeuti…
View article: Staged Surgical Correction of Severe Panfacial and Transverse Nasal Root Asymmetry in Unicoronal Synostosis
Staged Surgical Correction of Severe Panfacial and Transverse Nasal Root Asymmetry in Unicoronal Synostosis Open
Summary: Nasal asymmetry is widely acknowledged to be one of the most difficult deformities to manage. Most reports in the literature pertain to corrective methods in relation to isolated deformity of the dorsum in the posttraumatic patien…
View article: Intraoperative Positioning in Maxillofacial Trauma Patients With Cervical Spine Injury – Is It Safe? Radiological Simulation in a Healthy Volunteer
Intraoperative Positioning in Maxillofacial Trauma Patients With Cervical Spine Injury – Is It Safe? Radiological Simulation in a Healthy Volunteer Open
Study Design Observational. Objective To investigate the effects on the cervical spine of positioning patients for maxillofacial procedures by simulating intraoperative positions for common maxillofacial procedures. Methods Magnetic resona…
View article: 1196 Sonographic Assessment Versus Direct Clinical Measurement of Sialolith Size and Its Influence on Modality of Endoscopic Removal
1196 Sonographic Assessment Versus Direct Clinical Measurement of Sialolith Size and Its Influence on Modality of Endoscopic Removal Open
Aim The aim of this retrospective case series was to investigate the influence of sialolith size on the potential for endoscopic stone removal. Method The records of 52 patients who underwent salivary endoscopy between September 2018 and F…
View article: 1203 Sialendoscopy In Non-Stone Sialadenitis Is an Effective Therapeutic Approach
1203 Sialendoscopy In Non-Stone Sialadenitis Is an Effective Therapeutic Approach Open
Introduction The aim of this retrospective case series was to investigate the therapeutic effectiveness of salivary endoscopy for non-stone related sialadenitis and obstructive symptoms. Method The records of 46 patients who underwent sali…
View article: 1341 Outcomes of Sialendoscopic Stone Retrieval Under Local Anaesthesia in The Outpatient Setting- A Single Surgeon’s Experience
1341 Outcomes of Sialendoscopic Stone Retrieval Under Local Anaesthesia in The Outpatient Setting- A Single Surgeon’s Experience Open
Aim The aim of this retrospective case series was to investigate the success rate of sialendoscopic stone retrieval under local anaesthetic. Method The records of 52 patients who underwent salivary endoscopy between September 2018 and Febr…