Medicine and Health Sciences Commons^™

Hemiplegic Shoulder Pain: A Narrative Review, Yeh-Kai Liao, Chueh-Hung Wu, Levent Özçakar

Rehabilitation Practice and Science

Hemiplegic shoulder pain is a common post-stroke complication that negatively affects functional recovery. It is caused by both mechanical and neurological factors. Prevention focuses on proper positioning, patient education, and maintenance of motion. Treatment remains largely conservative; with increasing research surrounding injection therapies, including intra-articular corticosteroid injection, subacromial hyaluronic acid injection, suprascapular nerve blocks, and botulinum toxin injection, all of which have demonstrated improved pain control. Functional electrical stimulation appears to be beneficial, and adjunct therapies such as supportive devices and robotic training may further enhance conventional treatment. Herewith, evidence regarding medications and acupuncture remains limited. Emerging treatments including high-intensity …

Current Injection Treatment For Adhesive Capsulitis, A Narrative Review, Laurence Roy-Bélanger, Tian Yue Ding, Édouard Marcoux, Mathieu Boudier-Revéret

Rehabilitation Practice and Science

This narrative review outlines the current practices related to ultrasound-guided (USG) injection treatments for adhesive capsulitis (AC), including injection sites, approaches, medications, and doses.

USG procedures are increasingly accessible for AC, offering diverse injection approaches and medication dosing. Given the methodological variations in existing studies, a summary of current practices is essential. We conducted a narrative review of recent literature retrieved from computerized databases.

Glenohumeral (GH) and coracohumeral ligament (CHL) injections may improve outcomes for AC, with some evidence suggesting potential benefits of targeting the CHL. Subacromial bursa injections alone appear to be less effective. Multi-site injection techniques show promising …

Axillary Web Syndrome Following Breast Cancer Surgery: A Review Of Current Literature, Christina Soong, Tyng-Guey Wang, Shaw-Gang Shyu

Rehabilitation Practice and Science

Axillary web syndrome (AWS), a complication primarily following breast cancer surgeries involving axillary lymph node dissection (ALND), presents as painful cords extending from the axilla, impairing shoulder mobility and potentially delaying cancer treatment. This review consolidates existing knowledge on AWS, covering its clinical presentation, risk factors, pathophysiology, and management strategies. AWS typically arises within weeks post-surgery but may develop later, manifesting as fibrous cords that hinder arm movement. Diagnosis relies primarily on clinical examination, and the reported incidence varies significantly across different populations and study designs. Risk factors include ALND, younger age, low body mass index, and adjuvant therapies. The …

Multidisciplinary Approach To Managing Hypotonia And Developmental Delays Due To A Novel Gtpbp3 Mutation, Fan Mei, Ru-Lan Hsieh

Rehabilitation Practice and Science

Introduction: Hypotonia in early life is often challenging to diagnose due to its diverse etiologies, with genetic disorders accounting for about one-third of cases. A precise diagnosis using a comprehensive, multidisciplinary approach is crucial for determining prognosis, guiding treatment, and providing genetic counseling.

Case Presentation: We report the first case in Taiwan involving compound heterozygous mutations in the GTPBP3 gene. A 13-month-old girl presented with developmental delays and hypotonia despite normal prenatal screenings and a year of rehabilitation therapy. Next-generation sequencing revealed two novel mutations: c.785A>C (p.Gln262Pro), a missense mutation in Exon 5, and c.1175_1181dup (p.Ser395GlufsTer4) …

Principles And Practices Of Selecting Screening Tools For Oropharyngeal Dysphagia: A Narrative Review, Yu-Hsuan Lai, Tyng-Guey Wang, Nai-Hsin Meng

Rehabilitation Practice and Science

Oropharyngeal dysphagia is a potentially life-threatening condition, particularly affecting individuals with neurological diseases, head and neck cancers, and age-related issues. Its prevalence in the general population ranges from 2.3% to 16%, with much higher rates among patients with stroke, Parkinson’s disease, and traumatic brain injury. Dysphagia is prevalent in geriatric and long-term care settings, where over 50% of elderly residents may experience swallowing difficulties. Given its high prevalence and serious consequences, early detection through dysphagia screening in at-risk populations is essential. Since the 1990s, numerous screening tools for dysphagia have been developed, with over 160 non-instrumental tools identified in review …

Ambulation Challenges Post High-Voltage Electrical Burn Involving Three Extremities, Complicated With Osteomyelitis: A Case Report, Chiang-Hui Huang, Katie Pei-Hsuan Wu

Rehabilitation Practice and Science

High-voltage electrical burns in occupational settings can leave detrimental injuries with immediate impact and long-term sequel. Despite extensive literature on the injury mechanism, comprehensive long-term rehabilitation descriptions for such devastating cases remain scarce. This report presents a significant traumatized high-voltage electrical injury involved three out of four extremities. A late complication with extensive tibial osteomyelitis affecting two-thirds of the bone severely compromised the patient’s ambulation potential, emphasizing the importance of segmental rehabilitation with progressive tolerance in ambulatory weight-bearing. We evaluated the patient’s physical, mental, and social component using Barthel Index, Veterans RAND 12-Item Health Survey (VR-12), and Patient-Reported Outcomes Measurement …

Clinical Application Of Intraoperative Neurophysiological Monitoring During Detethering Surgery Of A Newborn: A Case Report, Mu-Yun Lin, Hsin-Hung Chen, Tsui-Fen Yang

Rehabilitation Practice and Science

Background:

Tethered cord syndrome (TCS) is a rare congenital condition that causes abnormal tension on the spinal cord and often requires early surgical intervention to prevent progressive neurological and orthopedic deficits. However, performing detethering surgery in neonates presents unique challenges due to their immature neural pathways, which complicate intraoperative neuromonitoring (IONM).

Case Description:

We report the case of a 13-day-old neonate with TCS who underwent successful detethering surgery under advanced IONM. Double-train stimulation with a linked quadripolar montage was employed to elicit motor evoked potentials (MEPs), overcoming the challenge of monitoring immature corticospinal tracts. Additionally, subdural strip electrodes were used …

Late-Onset Sciatic Nerve Compression Due To Distal Femoral Osteochondroma, I-Fan Hsieh, Tian-Shin Yeh

Rehabilitation Practice and Science

Osteochondroma is one of the most common benign bone tumors, typically asymptomatic, and rarely causes nerve compression. Previous case reports documented nerve compression by osteochondroma arising from the proximal fibula, pelvic bone, and spine. We report a rare case of osteochondroma at the distal femur causing sciatic nerve compression with symptom onset at 42 years old. This case highlights that osteochondroma can develop at any skeletal location, and even though these lesions typically cease to grow after skeletal maturity. Individuals with a history of osteochondroma should consider it as a differential diagnosis for new symptoms even in older age to …

Dysphagia In Becker Muscular Dystrophy: A Case Report And Literature Review, Chien-Ping Chen, Hung-Jui Chuang, Yi-Chi Li, Ming-Yen Hsiao, Tyng-Guey Wang

Rehabilitation Practice and Science

Dysphagia is a recognized complication in patients with muscular dystrophies, but its characteristics in Becker muscular dystrophy (BMD) remain underexplored. This case report describes a man with BMD who developed dysphagia, initially presenting with mild symptoms but later experiencing aspiration pneumonia with respiratory failure. He regained safe oral intake after swallowing training. Three years later, he suffered worsening dysphagia following a severe coronavirus disease-2019 (COVID-19) infection, ultimately losing the ability to resume oral feeding despite months of rehabilitation. Literature on swallowing disorder in BMD reported poor mastication, reduced laryngeal elevation, and increased pharyngeal residue; however, silent aspiration, as observed in …

Effectiveness Of Fu's Subcutaneous Needling In Pain Management And Rehabilitation: A Narrative Review, Po-En Chiu, Chun-Chang Wu, De-Jian Lu, Zhonghua Fu, Li-Wei Chou

Rehabilitation Practice and Science

Fu’s Subcutaneous Needling (FSN) is a modern needling technique distinct from traditional acupuncture, primarily used for musculoskeletal pain, neuropathic conditions, and emerging applications in rehabilitation. FSN is also designated as a kind of dry needling focusing on deactivating myofascial trigger points. This review categorizes FSN-related studies into case reports, clinical trials, and animal studies, evaluating its therapeutic efficacy, safety, and mechanisms. Case reports suggest that FSN provides rapid pain relief and functional improvement, while clinical trials, including randomized controlled trials (RCTs), support its role in reducing pain and enhancing neuromuscular function despite limitations in sample size and protocol consistency. Animal …

Immersive Computer-Assisted And Traditional Balance Training Methods On Balance Performance In Young Athletes: A Randomized Comparative Study, Hsien-I Lai, Yun-Hsin Huang, Chen-Yu Chien, Chung-Lan Kao

Rehabilitation Practice and Science

Introduction: Balance is essential for athletic performance. This study compared immersive computer-assisted balance training using the Bertec Balance Advantage CDP/IVR system with traditional soft mat training in young athletes.

Methods: Twenty-two young athletes were randomly assigned to a soft mat group (n = 10) or a Bertec group (n = 12). Both groups completed four training sessions over two weeks. Balance was assessed pre- and post-training using the Sensory Organization Test (SOT), Limits of Stability (LOS) test, and Dynamic Visual Acuity (DVA) test. Two-way mixed ANOVA and Bonferroni-corrected post-hoc analyses were performed.

Results: Both groups improved in postural stability and …

Ultrasound-Guided Injection In Meralgia Paresthetica: A Narrative Review, Jia-Chi Ko, Tyng-Guey Wang, Shaw-Gang Shyu

Rehabilitation Practice and Science

Meralgia paresthetica (MP) is a neuropathic pain syndrome resulting from compression or irritation of the lateral femoral cutaneous nerve (LFCN). Traditional diagnostic approaches rely on clinical assessments and electrodiagnostic testing. Ultrasound has emerged as a non-invasive, cost-effective modality for detailed visualization of the LFCN and guiding treatment interventions.

This review explores the anatomical considerations of the LFCN, its common etiological factors, clinical presentation, current management strategies, and ultrasound-guided injection techniques. While LFCN exhibits notable anatomical variability, and it is susceptible to external compression near the inguinal ligament. Some potential causes reveal as obesity, diabetes mellitus, or surgical interventions. Patients typically …

Ultrasound-Guided Percutaneous Needle Barbotage And Ultrasonic Tenotomy For Rotator Cuff Calcific Tendinopathy, Toru Omodani

Rehabilitation Practice and Science

Rotator cuff calcific tendinopathy (RCCT) is a common source of shoulder pain caused by calcium deposits within the rotator cuff tendons. Ultrasound-guided interventions have emerged as effective, minimally invasive alternatives to surgery for symptomatic cases unresponsive to conservative treatments. This review summarizes two primary techniques: percutaneous needle barbotage and percutaneous ultrasonic tenotomy. In needle barbotage, one or two needles are inserted under ultrasound guidance to inject and aspirate saline, thereby fragmenting and removing the calcific deposit. This method yields rapid pain relief and improved shoulder function, with follow-up imaging often demonstrating near-complete deposit resolution. For particularly hard or recalcitrant deposits, …

Safety In Dry Needling: The Role And Contributions Of The International Dry Needling Education & Training Advisory Group (Idnetag), W Mahmoud, J. Dommerholt

Rehabilitation Practice and Science

Dry needling is an intervention that physical therapists use to address various neuromusculoskeletal pain syndromes, primarily through targeting myofascial trigger points (TrPs) in muscle tissue. This technique involves inserting thin filiform needles into specific areas to relieve pain and improve movement. Despite its therapeutic potential, concerns regarding adverse events (AEs) necessitate stringent safety protocols and guidelines. In response, the International Dry Needling Education & Training Advisory Group (IDNETAG) was established in 2023 with members from diverse professions across eight countries. IDNETAG's mission is to enhance global standards of practice, focusing on safety, education, and consistency in treatment protocols. Research indicates …

Guideline Of Pulmonary Rehabilitation In Patients With Interstitial Lung Disease, Chia-Ho Lin, Seong-Woong Kang, Ming-Lung Chuang, Pin-Kuei Fu, Chin-Ming Chen, Ko-Long Lin, Ssu-Yuan Chen, Li-Wei Chou, Kuan-Cheng Chen, Yuan-Yang Cheng

Rehabilitation Practice and Science

Interstitial lung disease (ILD) includes a group of chronic respiratory disorders characterized by pulmonary inflammation and fibrosis, often resulting in dyspnea, exercise intolerance, and reduced quality of life. Although pulmonary rehabilitation (PR) is effective in managing these symptoms, no guideline has comprehensively summarized its principles, components, and supporting evidence in ILD. This guideline provides an evidence-based framework for designing and implementing PR tailored to ILD patients. Core recommendations include individualized exercise prescription following the FITT principle, aerobic and resistance training, breathing exercises, supplemental oxygen use, and disease-specific self-management strategies. The guideline also presents validated assessment tools to aid clinical application …

Assessing How Patients With Spinal Cord Injury Are Affected By Climate Change And Extreme Weather: A Scoping Review, Lien-Chieh Lin, Hung-Chou Chen, Tsan-Hon Liou

Rehabilitation Practice and Science

Climate change and the rising frequency of extreme weather events (EWEs) pose significant challenges to vulnerable populations, particularly individuals with spinal cord injury (SCI). These patients are at greater risk due to impaired thermoregulation, limited mobility, poor sensation, and dependence on caregivers or adaptive equipment, increasing their exposure to climate-related hazards and disrupting healthcare access during disasters. Although climate change impacts on the general population are well-documented, research on specific disability groups like SCI patients remains limited. This scoping review investigates how SCI patients perceive and experience health risks from climate change and EWEs, as well as factors influencing their …

A Rare Case Of Bilateral Supraspinatus Tendon Tears With Unilateral Musculotendinous Junction Involvement In An Elderly Patient, Kanyamas Poompreecha, Patsaree Pattanasuwanna, Ya-Chu Hsu

Rehabilitation Practice and Science

Rotator cuff (RC) tears are a common cause of shoulder pain in the elderly, though tears at the musculotendinous junction (MTJ) are uncommonly observed. We present a rare case of bilateral supraspinatus tendon tears in a 68-year-old male, with unilateral involvement of the MTJ. Symptoms developed three months after resuming resistance training following left acromioclavicular dislocation surgery. Ultrasound revealed a full-thickness insertional tear on the left and a partial MTJ tear on the right. Conservative treatment led to symptom resolution without surgery. This case highlights the diagnostic value of dynamic ultrasound for subtle rotator cuff and MTJ lesions in elderly …

The Effects Of 10-Ml Versus 40-Ml Capsular Dilatation Under Ultrasound Guidance In Patients With Adhesive Capsulitis: A Randomized Controlled Trial, Kollatee Buranarach, Rawipa Khunnarong, Chanasak Hathaiareerug

Rehabilitation Practice and Science

Background: Adhesive capsulitis causes pain and limited mobility. Hydrodilatation is an effective, minimally invasive treatment, but the optimal volume is unclear. This study compares the pain and function improvement from large-volume (40 mL) versus small-volume (10 mL) ultrasound-guided hydrodilatation in patients with adhesive capsulitis.

Methods: This study was conducted at Phramongkutklao Hospital in Bangkok, Thailand, with Thai adults aged 20 and older who had adhesive capsulitis. Participants had a pain score of 4 or higher on the Visual Analogue Scale (VAS) and limited movement in at least two directions. They were divided into two groups. One group received ultrasound-guided hydrodilatation …

Bridging Clinical Capacity And Real-World Performance: Upper And Lower Limb Accelerometry In Pediatric Cerebral Palsy Rehabilitation, Youngsub Hwang, Jeong-Yi Kwon

Rehabilitation Practice and Science

The rehabilitation of children with cerebral palsy (CP) has progressively evolved from therapist-centered, impairment-focused models to child- and family-centered approaches that emphasize real-world participation. This narrative review summarizes conceptual and practical shifts in CP rehabilitation, highlighting the distinction between motor capacity and real-world performance. Accelerometry is a critical objective tool for assessing lower and upper limb physical activity. Devices such as StepWatch and ActiGraph provide ecologically valid data on lower limb activity levels, step counts, and energy expenditure. Studies have shown reduced physical activity in children with CP compared to their typically developing peers, with variations in age and GMFCS …

Novel Sarcopenia Screening Using 1dcnn And Lidar-Enhanced Timed Up And Go Test, Yu-Ming Zhang, Cheng-Yu Tsai, Jiunn Horng Kang

Rehabilitation Practice and Science

Introduction

Sarcopenia is a systemic condition characterized by the loss of muscle mass, decreased strength and physical performance, leading to increased morbidity and mortality. To address this issue, we developed a rapid, cost-effective, and accurate screening model that integrated basic patient characteristics with a one-dimensional Convolutional Neural Network (1DCNN) analyzing Timed Up and Go (TUG) test data, captured using a simple light detection and ranging (LiDAR) device.

Methods

This study included 145 participants (38 diagnosed with sarcopenia and 107 without). During the TUG test, a LiDAR sensor semi-automatically recorded distance-time data, which was processed using a 1DCNN and combined with …

Developing A Gpt-Based Virtual Training System For Medical Undergraduates' History Taking In Stroke Rehabilitation, Chao-Yu Hsu, Ching-Lin Hsieh, Jeng-Cheng Wu, Wen-Hsuan Hou

Rehabilitation Practice and Science

Background: Effective history taking in stroke rehabilitation requires comprehensive assessment skills, yet opportunities for medical undergraduates to practice such skills remain limited. Virtual patients (VPs), especially those powered by large language models (LLMs), offer a promising solution. This study aimed to develop and evaluate a GPT-based virtual training system for functional assessments in stroke rehabilitation history taking.

Methods: A mixed-methods design was employed in which VPs were modeled on a clinical stroke case and 10 core domains of functional assessments in stroke rehabilitation were integrated. A virtual examiner (VE) module provided automated scoring and feedback. Phase 1 evaluated the reliability …

Influence Of Local Application Of Lidocaine Patch On Peripheral Nerve Conduction – A Pilot Study, Thanh-Nhan Doan, Fang-Yin Liao, Yueh-Ling Hsieh, Li-Wei Chou

Rehabilitation Practice and Science

Background: This study aimed to investigate the effects of a lidocaine patch on peripheral nerve conduction.

Methods: Fifteen healthy volunteers with no symptoms or signs of neuropathy in either upper limb were recruited for this double-blind, placebo-controlled study over a 10-month period. A lidocaine patch or a placebo patch was applied to the volar aspect of the wrist during sleep. The treatment procedure was repeated for 14 consecutive nights. Nerve conduction studies were performed and analyzed at each assessment point. All participants were re-evaluated, with electrophysiological studies of the median and ulnar nerves repeated at 1 week and 2 weeks …

Long-Term Benefits Of An Integrative Scoliosis-Specific Rehabilitation Program For High-Risk Adolescent Idiopathic Scoliosis: A Retrospective Cohort Study, Yu-Shan Fu, Lin-Fen Hsieh, Julian Wang, Wei-Chen Chang, Ya-Fang Liu, Hsuan-Han Lin

Rehabilitation Practice and Science

Background/Purpose: Adolescent idiopathic scoliosis (AIS) is a common spinal deformity in adolescents, but the optimal combination therapy remains to be established. Therefore, our purpose is to investigate the long-term benefits of a scoliosis-specific rehabilitation program integrating pattern-specific manual therapy, Schroth Best Practice exercises, and Gensingen brace application for patients with AIS.

Methods: The retrospective cohort study was conducted in an outpatient clinic, including 54 patients with AIS at a high risk of progression who participated in the aforementioned program. The primary outcomes were the angle of trunk rotation (ATR) and Cobb angle, whereas the secondary outcome was the lateral …

Persistent Oropharyngeal Dysphagia Caused By Systemic Light Chain Amyloidosis Despite Hematologic Response: A Case Report, Haw-Wen Jeng, Tyng-Guey Wang, Kuo-Chang Wei

Rehabilitation Practice and Science

We report a case of a 44-year-old woman who developed progressive dysphagia and shoulder stiffness, ultimately leading to a diagnosis of multiple myeloma (MM) with systemic light-chain (AL) amyloidosis. Despite intensive systemic therapy for MM with good serological response and nine months of comprehensive swallowing rehabilitation, her tongue mobility remained severely restricted, with only minimal improvement in laryngeal elevation. Videofluoroscopic swallowing study (VFSS) confirmed poor tongue control, reduced laryngeal elevation, and penetration of thin liquids. She ultimately passed away despite hematologic control. This case underscores the profound impact of amyloid deposition on swallowing function, even in the context of medically …

Active Learning In Respiratory Care Education: A Narrative Review, Tisha Ann Skariah, Udaya Kumar Rao, Manjush Karthika

Health Professions Education

Purpose: This study evaluates the effectiveness of active learning strategies in respiratory care (RC) education, specifically examining their impact on student engagement, critical thinking, and clinical competency to address limitations inherent in traditional passive instructional methods.

Methods: A comprehensive narrative review of peer-reviewed literature was conducted using databases such as PubMed, Web of Science, and Scopus. Thematic analysis was utilized to explore the influence of key active learning methodologies, including simulation-based learning (SBL), flipped classroom (FC), problem-based learning (PBL), and team-based learning (TBL).

Results: The findings demonstrate that active learning approaches significantly enhance clinical decision-making, collaborative skills, and knowledge retention …

Artificial Intelligence In Pharmacy Education: Balancing Technological Advances And Ethical Concerns Among Aspiring Pharmacists, Ubada Aqeel, Shibu John

Health Professions Education

Background Artificial intelligence (AI) is transforming healthcare, including pharmacy practice, by enhancing access to information, reducing errors, and supporting decision-making. However, its integration into pharmacy education remains underexplored. This study investigated pharmacy students' perceptions of AI's impact on their profession and the need for curriculum reform. Materials and Methods A cross-sectional survey was conducted among 245 Bachelor of Pharmacy (BPharm) students from Jamia Hamdard, India. Data were collected using a structured questionnaire covering knowledge, perceptions, and opinions on AI in pharmacy. Responses were analyzed using non-parametric tests, including the Mann-Whitney U and Kruskal-Wallis H tests, to examine group differences. Exploratory …

The Effect Of Premolar Extractions On The Change Of Angulation And Eruption Space Of The Mandibular Third Molars After Orthodontic Treatment, Asmae Benkaddour, Khaoula M’Rabt, Loubna Bahije, Fatima Zaoui, Asmae Bahoum

International Arab Journal of Dentistry

Objectives: Our study was designed to analyze the effect of lower premolar extraction on the evolution space of the lower third molars, as well as their position and angulation during orthodontic treatment.

Methods: This is a cross-sectional, retrospective, descriptive and analytical study comparing two groups of patients: the first group includes 20 patients treated without premolar extraction, and the second group, 27 patients treated with premolar extraction. Linear and angular measurements were performed on panoramic radiographs and lateral cephalograms of orthodontic pre- and post-treatment.

Results: The eruption space and the horizontal position of the lower third molars, …

Endodontic Management Of Dens Invaginatus Using Dynamic Navigation System In Pediatric Patient: A Case Report, Ayesha Fathima, Sahana Selvaganesh, Ganesh Jeevanandan, Pradeep Solete, Prabahdevi Maganur, Ather Syed Ahmed, Satish Vishwanathaiah

International Arab Journal of Dentistry

Dens invaginatus, also known as dens in dente, is a dental anomaly resulting from infolding the enamel organ into the dental papilla. Dynamic Navigation Systems (DNS) like Navident, offer real-time guidance during endodontic procedures, proving especially useful in complex cases, such as calcified canals or pulp obliteration. This case report presents a 13-year-old female, who reported the chief complaint of continuous pain in the upper left front tooth region. Based on the clinical and radiographical findings, a diagnosis of pulp necrosis and chronic periapical abscess in relation to maxillary canine (23) was established with dens invaginated palatal canal ( Oehler’s …

Oral Lesion As The Initial Presentation In The Diagnosis Of Histiocytosis X: A Case Report With 16-Month Follow-Up, Wassim Al Manhal, Georgio Saad, Charbel Anka, Valerie Aftimos, Michael Daccache, Sophie Abi Raad, Georges Boujaoude

International Arab Journal of Dentistry

Introduction: Langerhans Cell Histiocytosis (LCH) is a rare neoplastic disease that comes from the abnormal proliferation of Langerhans cells (LCs). It presents with a broad clinical spectrum, varying from involvement of a single organ system to multisystem disease, and frequently affects children, although cases in adults have been reported. Oral manifestations of LCH are non-specific and may mimic common periodontal conditions, posing a diagnostic challenge for dental practitioners.

Case Presentation: A 63-year-old female patient presented with complaints of periodontal problems. She was initially diagnosed with periodontitis, but symptoms persisted despite treatment, prompting a referral for further evaluation. Histopathological …

Delayed Tooth Eruption As An Early Clinical Indicator Of Genetical Tooth Agenesis: A Family-Based Study Of Cases With Whole-Exome Sequencing, Yu-Chen Jeng, I-Ting Chen, Hui-Ching Cheng, Hsin-Yu Huang, Chao-Kai Hsu, Yu-Fen Yen

Journal of Dental Sciences

Delayed tooth eruption is frequently considered a benign developmental variation but may represent an early sign of genetically driven tooth agenesis. We evaluated a 22-month-old female presenting with markedly delayed eruption (only eight primary teeth) and a positive family history of ectodermal features. Given the inconclusive early radiographic findings, whole-exome sequencing (WES) was utilized. WES revealed the proband carried a heterozygous EDARADD variant (NM_080738:c.328G>T; p.Asp110Tyr). Subsequent familial segregation analysis identified an additional heterozygous WNT10A variant (NM_025216:c.637G>A; p.Gly213Ser) within the broader family. The EDARADD variant alone was associated with varying presentations from normal dentition to delayed eruption. Furthermore, the …