Facial Muscles Research Articles

Non-invasive procedure implementation for enhanced smile facial muscle movement after orthognathic surgery: a case report.

This study examined the case of 27-year-old female who underwent orthognathic surgery to correct class 3 malocclusion, resulting in an unnatural smile. The research aimed to assess the efficacy of non-invasive treatment in enhancing facial muscle movement during smiling to achieve a natural smile. The patient received eight sessions of treatment using non-invasive devices, and facial assessment were conducted using three-dimensional scanner (Morpheus 3D Scanner) to evaluate facial features in both relaxed and maximum smile states pre- and post-treatment. The results demonstrated improvements in the symmetry of the lower lip height during smiling, along with increases in mouth width and volume in the upper central area. Subjectively, the patient also reported enhanced comfort while smiling. These findings suggest that non-invasive procedures can effectively improve unnatural smiles following orthognathic surgery, contributing to a more aesthetically pleasing smile presentation.

The current state and prospects of peptides use in cosmeceuticals

Aim. To analyze the range of peptides in cosmeceuticals. Materials and methods. The study materials were publications in scientific periodicals. The study used methods of content analysis, comparative, logical, analytical methods and generalization of information. Results. The analysis of scientific literature data has shown that bioactive peptides of various origins are widely used as active ingredients in cosmeceuticals. In 2022, the global market for the synthesis of cosmetic peptides was estimated in 195.3 million USD. The market is expanding due to the growing consumer demand for skin care and anti-ageing products. Consumers are shifting towards a holistic approach to beauty, appreciating products that not only provide instant results, but also support the skin’s natural processes. Peptides, with their various benefits, perfectly match this approach by promoting skin elasticity from the inside, providing a long-lasting positive result. Peptides can be used to address specific skin problems, such as hyperpigmentation, acne and inflammation. According to the mechanism of action, biologically active peptides are classified as carrier peptides, signal peptides, neurotransmitter inhibitor peptides and enzyme inhibitor peptides. Carrier peptides facilitate the transport of cofactors, such as copper and manganese, across the skin barrier. Both cofactors are essential for enzymatic reactions involved in preventing aging and wound healing. Copper tripeptide-1 and manganese tripeptide-1 are examples of carrier peptides that have been successfully used to reduce fine lines, wrinkles and hyperpigmentation associated with photoaging. Signal peptides or matrikines are derived from extracellular matrix proteins, such as collagen, elastin and fibronectin. Matrikines interact with specific receptors that stimulate the synthesis, repair and remodeling of the extracellular matrix. These peptides also regulate the activity of certain key enzymes involved in the aging process, such as collagenase, elastase, tyrosinase and hyaluronidase. Neurotransmitter inhibitor peptides are the latest cosmeceutical peptides. Similar to botulinum toxins, these peptides prevent the release of acetylcholine, a neurotransmitter responsible for muscle contraction. Inhibiting this process relaxes facial muscles, preventing the formation of fine lines and wrinkles. Neurotransmitter inhibitor peptides are a safer alternative to traditional botulinum toxin treatment with fewer potential side effects. Enzyme inhibitor peptides have become popular active ingredients in anti-ageing cosmetics. This class of peptides inhibits the activity of certain enzymes involved in various biochemical processes of the skin. Their application in cosmeceuticals is to control or inhibit those processes that cause skin damage, aging or loss of elasticity. Conclusions. The study of peptides for use in cosmeceuticals has opened new prospects in skin care and aesthetic medicine. Bioactive peptides of various origins – from plants, animals, marine organisms, and edible insects – exhibit a wide range of properties, including antiaging, antioxidant, anti-inflammatory, and antimicrobial effects. Peptides open new horizons in the creation of innovative cosmeceuticals, especially when combined with other active components, such as antioxidants or retinoids. Their safety, ability to biodegrade and spot impact make peptides an attractive ingredient for solving various dermatological problems without the side effects of more aggressive skin correction methods.

Neurobiology and Anatomy of Facial Expressions in Great Apes: Application of the AnimalFACS and Its Possible Association with the Animal’s Affective State

The Facial Action Coding System (FACS) is an anatomically based system to study facial expression in humans. Currently, it is recognized that nonhuman animals, particularly nonhuman primates, have an extensive facial ethogram that changes according to the context and affective state. The facial expression of great apes, the closest species to humans, has been studied using the ChimpFACS and OrangFACS as reliable tools to code facial expressions. However, although the FACS does not infer animal emotions, making additional evaluations and associating the facial changes with other parameters could contribute to understanding the facial expressions of nonhuman primates during positive or negative emotions. The present review aims to discuss the neural correlates and anatomical components of emotional facial expression in great apes. It will focus on the use of Facial Action Coding Systems (FACSs) and the movements of the facial muscles (AUs) of chimpanzees, orangutans, and gorillas and their possible association with the affective state of great apes.

Stress recognition identifying relevant facial action units through explainable artificial intelligence and machine learning

Background and objective: Facial cues and expressions constitute a component of bodily responses that provide useful information about one’s stress levels. According to the Facial Action Coding System, they can be modelled consistently in terms of fundamental facial muscle movements, called facial Action Units (AUs). This article investigates automatic acute stress recognition based on AUs using conventional Machine and Deep Learning techniques. Methods: We created a new experimental dataset containing 58 participants performing 4 experimental phases and 11 stress and non-stress tasks in which the proposed system performs automatic facial AUs recognition. A computational feature selection method was employed to select a robust relevant AU combinations subset, which integrated with conventional Machine Learning and Deep Learning methods using the Layer-Wise Relevance Propagation algorithm to assess and model the implication of AUs under acute stress conditions. Ordinal modelling was used following the pairwise transformation to establish a common reference based on the personalized values of each participant. Results: The results indicate that, under acute stress conditions, participants’ faces presented significantly more AUs and with greater intensity compared to neutral conditions. The most relevant combination of AUs to each stress type was computationally identified, ranked and selected. The mean yielded classification accuracy of stress condition versus neutral achieved across all experimental tasks was greater than 93%. Conclusions: There are specific combinations of AUs that are relevant to the stress conditions of each experimental phase leading in each case to better neutral and stress separability.

A CBCT study of changes in temporomandibular joint morphology with immediate implant placement and immediate loaded full-arch fixed dental prostheses

BackgroundDental implants are becoming a popular treatment of choice. Immediate implant placement with immediate loaded full-arch fixed dental prostheses (IPILFFDP) presents an attractive solution for edentulous and partially edentulous patients because of its high success rate, reduction in overall treatment time, and improved esthetics. However, whether it can minimize the risk of temporomandibular disorder (TMD) has not been previously studied.ObjectiveTo quantitatively evaluate the temporomandibular joint (TMJ) morphology changes before and after IPILFFDP, using cone beam computed tomography (CBCT).MethodsTwelve participants without TMJ symptoms undergoing IPILFFDP were included in the study. Preoperative and 1-year postoperative assessment of CBCT scans were performed on 18 items related to TMJ and vertical dimensions. Mimics software was used for data analysis. T-test, Pearson, and Spearman correlation analyses were performed.ResultsThere were no significant differences in bilateral joints between pre and post IPILFFDP. Compared with pre-treatment CBCT, post-treatment CBCT showed a significant increase in posterior joint space. There was an approximately 2 mm increase in the vertical dimension after IPILFFDP, which is correlated with an increase in the medial joint space.ConclusionsFor patients without TMJ-related signs and symptoms, the IPILFFDP could keep the neuromuscular memory of patient’s facial muscles and occlusion, and use adapted centric posture as a guide, which led to more precise restoration of the original jaw position and may shed light in future related clinical studies.

Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function.

Facioscapulohumeral muscular dystrophy (FSHD) is caused by the epigenetic de-repression of the double homeobox 4 (DUX4) gene, leading to asymmetric muscle weakness and atrophy that begins in the facial and scapular muscles and progresses to the lower limbs. This incurable condition can severely impair muscle function, ultimately resulting in a loss of ambulation. A thorough analysis of molecular factors associated with the varying degrees of muscle impairment in FSHD is still lacking. This study investigates the molecular mechanisms and biomarkers in the biceps brachii of FSHD patients, classified according to the FSHD clinical score, the A-B-C-D classification scheme, and global proteomic variation. Our findings reveal distinct metabolic signatures and compensatory responses in patients. In severe cases, we observe pronounced metabolic dysfunction, marked by dysregulated glycolysis, activation of the reductive pentose phosphate pathway (PPP), a shift toward a reductive TCA cycle, suppression of oxidative phosphorylation, and an overproduction of antioxidants that is not matched by an increase in the redox cofactors needed for their function. This imbalance culminates in reductive stress, exacerbating muscle wasting and inflammation. In contrast, mild cases show metabolic adaptations that mitigate stress by activating polyols and the oxidative PPP, preserving partial energy flow through the oxidative TCA cycle, which supports mitochondrial function and energy balance. Furthermore, activation of the hexosamine biosynthetic pathway promotes autophagy, protecting muscle cells from apoptosis. In conclusion, our proteomic data indicate that specific metabolic alterations characterize both mild and severe FSHD patients. Molecules identified in mild cases may represent potential diagnostic and therapeutic targets for FSHD.

Ultrathin, Stretchable, and Twistable Ferroelectret Nanogenerator for Facial Muscle Detection

Ferroelectret nanogenerators (FENGs) have garnered attention due to their unique porous structure and excellent piezoelectric performance. However, most existing FENGs lack sufficient stretchability and flexibility, limiting their application in the field of wearable electronics. In this regard, we have focused on the development of an ultrathin, stretchable, and twistable ferroelectret nanogenerator (UST-FENG) based on Ecoflex, which is made up of graphene, Ecoflex, and anhydrous ethanol, with controllable pore shape and density. The UST-FENG has a thickness of only 860 µm, a fracture elongation rate of up to 574%, and a Young’s modulus of only 0.2 MPa, exhibiting outstanding thinness and excellent stretchability. Its quasi-static piezoelectric coefficient is approximately 38 pC/N. Utilizing this UST-FENG device can enable the recognition of facial muscle movements such as blinking and speaking, thereby helping to monitor people’s facial conditions and improve their quality of life. The successful application of the UST-FENG in facial muscle recognition represents an important step forward in the field of wearable systems for the human face.

Automated video-based pain recognition in cats using facial landmarks

Affective states are reflected in the facial expressions of all mammals. Facial behaviors linked to pain have attracted most of the attention so far in non-human animals, leading to the development of numerous instruments for evaluating pain through facial expressions for various animal species. Nevertheless, manual facial expression analysis is susceptible to subjectivity and bias, is labor-intensive and often necessitates specialized expertise and training. This challenge has spurred a growing body of research into automated pain recognition, which has been explored for multiple species, including cats. In our previous studies, we have presented and studied artificial intelligence (AI) pipelines for automated pain recognition in cats using 48 facial landmarks grounded in cats’ facial musculature, as well as an automated detector of these landmarks. However, so far automated recognition of pain in cats used solely static information obtained from hand-picked single images of good quality. This study takes a significant step forward in fully automated pain detection applications by presenting an end-to-end AI pipeline that requires no manual efforts in the selection of suitable images or their landmark annotation. By working with video rather than still images, this new pipeline approach also optimises the temporal dimension of visual information capture in a way that is not practical to preform manually. The presented pipeline reaches over 70% and 66% accuracy respectively in two different cat pain datasets, outperforming previous automated landmark-based approaches using single frames under similar conditions, indicating that dynamics matter in cat pain recognition. We further define metrics for measuring different dimensions of deficiencies in datasets with animal pain faces, and investigate their impact on the performance of the presented pain recognition AI pipeline.

Deceleration of denervated facial muscle atrophy through functional electrical stimulation: a sonographic quantification in patients with facial nerve paralysis.

Functional Electrical Stimulation (FES) is an established intervention for a range of muscular and neurological disorders that has already been studied in numerous publications. However, its application to Peripheral Facial nerve Paralysis (PFP) still needs to be sufficiently investigated. As the first approach known to the authors, this study examines the effect of FES on the facial muscles in complete PFP using ultrasonography as a means of observation. In a prospective single-center observational pilot study, ten patients with complete PFP, confirmed by needle-electromyography (EMG), performed FES of the affected lateral mouth region at home twice daily for 20 minutes. The facial muscles' Cross-Sectional Area (CSA) was regularly assessed using sonographic quantification. While the CSA of most non-stimulated muscles decreased considerably during ongoing paralysis, a significant CSA increase of the Zygomaticus Muscle (ZYG), which was regularly subjected to FES, could be demonstrated. FES can halt the atrophy of denervated ZYG and potentially other facial muscles. Further investigations with a more significant patient collective are recommended. From now on, FES could be established as an additive method in the non-invasive treatment of PFP.

Fu's subcutaneous needling for non-acute idiopathic facial paralysis : a randomized controlled trial

To observe the effect of Fu's subcutaneous needling in the treatment of non-acute idiopathic facial paralysis and its effect on serum levels of nitric oxide (NO) and endothelin (ET). A total of 76 patients with non-acute idiopathic facial paralysis were randomly divided into an observation group (38 cases, 2 cases dropped out) and a control group (38 cases, 2 cases dropped out). The patients in the control group received basic treatment (mecobalamin tablets orally, specific electromagnetic spectrum irradiation, facial muscle rehabilitation training). The patients in the observation group were treated with Fu's subcutaneous needling on the basis of the control group. The needling points included brachioradialis muscle, sternocleidomastoid muscle, trapezius muscle, etc., and the needling was inserted around the affected muscle, and the reperfusion activity was carried out at the same time, once every other day, 3 times a week. Both groups were treated for 4 weeks. The House-Brackmann (H-B) grade and H-B symptom score were observed before treatment, after 2 and 4 weeks of treatment in the two groups. The facial disability index (FDI) score [including physical function (FDIP) score and social life function (FDIS) score] and the serum levels of NO and ET were compared before and after 4 weeks of treatment in the two groups. The clinical effect and safety of the two groups were assessed. After 2 and 4 weeks of treatment, the H-B grade of the two groups was lower than that before treatment, and the H-B symptom scores were higher than those before treatment (P<0.001, P<0.05); the H-B grade of the observation group was lower than that of the control group, and the H-B symptom score was higher than that of the control group (P<0.01, P<0.05). After 4 weeks of treatment, the FDIP scores of the two groups were higher than those before treatment, and the FDIS scores were lower than those before treatment (P<0.05 ); the FDIP score of the observation group was higher than that of the control group, and the FDIS score was lower than that of the control group (P<0.05). After 4 weeks of treatment, the serum level of NO in the observation group was higher than that before treatment, and the serum level of ET was lower than that before treatment (P<0.05); the increase of serum level of NO and the decrease of serum level of ET in the observation group were greater than those in the control group (P<0.05). The cure rate of the observation group was 55.6% (20/36), which was higher than 22.2% (8/36) of the control group (P<0.05). There were no serious adverse reactions in both groups. Fu's subcutaneous needling combined with basic treatment can effectively improve the motor function of facial muscles in patients with non-acute idiopathic facial paralysis, which may be related to the regulation of serum NO and ET levels.

Facial nerve baroparesis: a case report

BackgroundFacial nerve baroparesis is a peripheral facial nerve injury resulting from barotrauma during activities such as diving, aviation, and mountain climbing. This condition occurs when increased pressure in the middle ear affects the facial nerve, leading to facial palsy. Despite being documented in otolaryngology literature, facial nerve baroparesis remains underreported and often misunderstood. Enhanced awareness and education about this condition are essential for effectively managing affected patients, helping to mitigate unnecessary panic and procedures during episodes.Case presentationWe present two cases of facial nerve baroparesis that occurred during flights. The first case involves a 25-year-old Arab male with no significant medical history who experienced a transient, one-time episode of right-sided facial nerve baroparesis during a flight from Kuwait to Syria; he reported nasal congestion and a sore throat prior to the flight, with the episode lasting approximately 30 min before resolving spontaneously. The second case is a 30-year-old Arab female with a history of chronic allergic rhinitis, who has experienced recurrent episodes of left-sided facial nerve baroparesis for the past 2 years, occurring during nearly every flight; each episode lasted around 5 min, caused severe facial pain, and also resolved spontaneously. Both patients exhibited varying degrees of Eustachian tube dysfunction. Treatment for the recurrent case included maneuvers to alleviate ear pressure and the use of nasal decongestants, which improved symptoms and decreased the frequency of episodes.ConclusionFacial nerve baroparesis is frequently underestimated due to its temporary nature, yet it remains a significant cause of facial nerve palsy, especially after changes in pressure. Although the underlying mechanisms are not completely understood, dysfunction of the Eustachian tube is believed to be a contributing factor. Identifying the characteristic features of baroparesis—such as rapid onset, brief duration, and bilateral involvement of facial muscles—is essential for effective management. This highlights the necessity of educating healthcare professionals and flight personnel about this condition to prevent unnecessary treatments. For recurrent cases, management strategies should focus on alleviating Eustachian tube dysfunction.

HE ROLE OF PHYSICAL THERAPY IN MANAGING SYMPTOMS OF TEMPOROMANDIBULAR JOINT DYSFUNCTION SECONDARY TO OSTEOARTHRITIS

The purpose of the study is to evaluate the effectiveness of the physical therapy in managing symptoms of temporomandibular joint dysfunction in patients with osteoarthritis. Materials and methods. 48 people with diagnosis of osteoarthritis of the temporomandibular joints were examined. In Group 1 (23 participants), correction involved wearing customized relieving splints. In addition to splint therapy, Group 2 received a course of physical therapy, which included therapeutic exercises targeting the masticatory muscles, facial muscles, tongue, and anterior neck muscles, as well as a course of transcutaneous electrical nerve stimulation (TENS) using the unipolar method on the masticatory and temporal muscles. The correction period for both groups was 1 month. Outcomes were evaluated using the Hamburg Test, the Helkimo Index, and the Jaw Functional Limitation Scale. Results. After the application of relaxing splints and the implementation of the physical therapy program, the total score of the "Hamburg test" decreased by 39.6% in group 1, and by 59.4% in group 2 (p&lt;0.05). The positive dynamics of the Helkimo index was 34.5% in group 1, 48.6% in group 2 (р&lt;0.05), passing within the parameters of moderate temporomandibular joint dysfunction. When re-evaluating the functional state of the temporomandibular region according to the Jaw Functional Limitation Scale, the improvement of chewing in group 1 was 28.8%, in group 2 – 62.3%, the mobility of the lower jaw was 21.9% and 44.3%, respectively, verbal and emotional communication – 26% and 41.7%, the total score – by 26.2% and 49.6%. The developed program of physical therapy against the background of wearing individual relief splints demonstrated a statistically significantly better effect (p&lt;0.05) on all the studied indicators of the functioning of the orofacial zone compared to the initial data and the results of the group that corrected the dysfunction of the temporomandibular joint with talc splints. Conclusion. Use the means of physical therapy can be recommended to increase the effectiveness of dental orthopedic correction in patients with osteoarthritis of the temporomandibular joint.

Anatomy and Histology of Sensorimotor Connections Between the Facial and Trigeminal Nerve in the Buccinator Muscle.

Despite indications of a close interaction between the trigeminal (CN V) and facial nerve (CN VII) within the buccinator muscle, a combination of anatomical dissection and histological analysis has not been reported. Five formalin-fixed and fresh-frozen hemifaces were dissected to reveal the buccal fat pad, the buccinator muscle, and anastomotic connections between CN V and CN VII within it. Samples were taken for histological processing and immunostaining. Branches of CN V and CN VII formed pronounced sensorimotor anastomotic connections in and surrounding the buccinator muscle. These findings were histologically evident with close intramuscular coupling of sensory and motor fibers. There was an evident but gradual shift from motor to sensory fibers in the interconnections when analyzing them from the side of CN V toward the side of CN VII and vice versa. These results further elucidate connections between CN V and CN VII and their possible role in proprioception of the facial muscles.

Surgical Treatments for Facial Aberrant Reinnervation Syndrome: A Systematic Review.

Background: Facial aberrant reinnervation syndrome is characterized by aberrant facial muscle reinnervation after facial nerve injury producing facial synkinesis, hypertonicity, and muscle spasm. Objective: To systematically review the surgical treatments for facial aberrant reinnervation syndrome and assess their effectiveness as measured by patient-reported outcomes, physician-graded outcomes, or computer-automated grading systems. Methods: We conducted a systematic review using PubMed, Embase, and Cochrane CENTRAL in accordance with PRISMA guidelines. Texts reporting outcomes of any surgical treatment for facial aberrant reinnervation syndrome from 2003 to 2023 were included. Results: After screening, 25 studies with 731 patients were included. Surgical procedures included selective neurectomy (SN), selective myectomy (SM), cross-facial nerve graft, masseter nerve transfer, and gracilis muscle transfer. All surgical techniques and combinations showed significant improvement in at least one clinical outcome measure from baseline (p < 0.05), although one study found no significant improvement. Thirty different outcome measures were used, the most common being the FaCE and eFACE scales (seven studies each). Conclusions: All surgical procedures in this review yield improved clinical outcome measures for facial aberrant reinnervation syndrome, with SN and SM being the dominant surgical treatments. Standardized outcome assessment and more nuanced patient evaluation are necessary to determine the most effective surgical treatments.

Clinical experience of the carboxytherapy method in the treatment of patients with temporomandibular joint pain dysfunction syndrome (К07.60)

Objective. Improving the effectiveness of treatment of patients with TMJ PDS myogenic origin. Material and methods. According to the purpose of the study, a group of 10 patients (8 women and 2 men aged 14 to 60 years) was formed with the coincidence of a triad of signs: pain during movements of the lower jaw, a feeling of heaviness and tension in the chewing and facial muscles, restriction of mouth opening. A set of diagnostic measures has been implemented in the following scope: clinical and radiological examination methods, TMJ MRI, ultrasound and surface EMG of the chewing muscles, digital axiography. In the treatment of patients in the study group, the method of invasive carboxytherapy was used, based on dosed injections of CO2 in the projection of trigger points of the masticatory muscles. The research examines the therapeutic value of using of CO2 in the protocol of functional rehabilitation of patients with TMJ diseases of myogenic origin. Results. The analysis of the effectiveness of treatment of patients in the study group was carried out to assess the dynamics of key parameters: the severity of the pain syndrome according to VAS, the magnitude of the IMPACT index values and the magnitude of mouth opening. The severity of pain in patients in the study group, according to average values, decreased by 86% from the initial values, an increase in the amplitude of mouth opening by 28.5%, a decrease in the IMPACT index values by 42.5% from the initial values of hypertonicity of the masticatory muscles, an increase in blood flow speed of superficial temporal artery at 52.5%. Conclusion. The results of the clinical application of the carboxytherapy method in the treatment of patients with TMJ PDS allow us to recommend this method for implementation in the rehabilitation protocols of patients with TMJ PDS of myogenic origin, trismus and hypertonus of the masticatory muscles. Carboxytherapy as a method of etiopathogenetic rehabilitation contributes to the early relief of pain syndrome, normalization of the bioelectric activity of the chewing muscles and restoration the physiological kinematics of the lower jaw’s movements.

On the Role of Sensorimotor Experience in Facial Expression Perception.

Humans recognize the facial expressions of others rapidly and effortlessly. Although much is known about how we perceive expressions, the role of facial experience in shaping this remarkable ability remains unclear. Is our perception of expressions linked to how we ourselves make facial expressions? Are we better at recognizing other's facial expressions if we are experts at making the same expressions ourselves? And if we could not make facial expressions at all, would it impact our ability to recognize others' facial expressions? The current article aims to examine these questions by explicating the link between facial experience and facial expression recognition. It includes a comprehensive appraisal of the related literature and examines three main theories that posit a connection between making and recognizing facial expressions. First, recent studies in individuals with Moebius syndrome support the role of facial ability (i.e., the ability to move one's face to make facial expressions) in facial expression recognition. Second, motor simulation theory suggests that humans recognize others' facial expressions by covertly mimicking the observed expression (without overt motor action) and that this facial mimicry helps us identify and feel the associated emotion. Finally, the facial feedback hypothesis provides a framework for enhanced emotional experience via proprioceptive feedback from facial muscles when mimicking a viewed facial expression. Evidence for and against these theories is presented as well as some considerations and outstanding questions for future research studies investigating the role of facial experience in facial expression perception.

Optical genome mapping reveals maternal mosaicism in two Sibling cases of Early-Onset Facioscapulohumeral muscular dystrophy type 1

BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant condition caused by shortened D4Z4 repeat units in the subtelomeric region of 4q35, always on the 4qA haplotype, or due to variants in the SMCHD1 gene leading to hypomethylation of the D4Z4 macrosatellite DNA repeats. MethodsTo explore the potential genetic basis for suspected FSHD presenting with early onset in two siblings without evident family history of the disorder, whole genome sequencing (WGS) and optical genome mapping (OGM) were conducted on the affected individuals and their parents. ResultsThe two siblings manifested severe and early-onset clinical features consistent with FSHD, initiating with facial muscle weakness that progressively spread downward since the age of four months. OGM disclosed a reduced number of D4Z4 repeat units within the subtelomeric region of 4q35 in both affected siblings. This finding was pivotal in establishing the diagnosis of FSHD1 in the two brothers. The analysis also revealed that their clinically asymptomatic mother harbored the pathogenic D4Z4 repeat configuration (4qA) at a 50% frequency, indicating her mosaic carrier status. Additionally, WGS and Sanger sequencing identified a paternal origin variant c.695_699del (p.Val232Glyfs*7) in the DNAJB6 gene in both siblings. ConclusionThe application of advanced genomic methodologies has proven instrumental in unraveling the intricacies of genetic diseases that challenge traditional diagnostic paradigms. Specifically, this study highlights the effectiveness of OGM in diagnosing FSHD1 and confirming D4Z4 repeat reduction, particularly in cases involving parental mosaicism.

Abnormal electromyographical trigeminal activation through stimulation of the offending artery (Z-L response): An intraoperative tool during microvascular decompression for trigeminal neuralgia.

There are currently no intraoperative neurophysiological tools to assess the effectiveness of trigeminal nerve decompression during microvascular decompression surgery for drug-resistant trigeminal neuralgia. In microvascular decompression surgery for hemifacial spasm, an abnormal electromyographic activation of facial muscles after stimulation of the offending vessel was identified and named 'Z-L response'. We adapted a neurophysiological protocol to elicit a Z-L response during microvascular decompression surgery for trigeminal neuralgia and applied it to a prospective series of 18 surgical patients. Patients had suffered from trigeminal neuralgia for a median 9-year timeframe, and median preoperative Barrow Neurological Institute pain score was 4.5. Through monopolar stimulation, using rising amplitudes starting from 0.1 mA, we confirmed intraoperatively the true culprit vessel before decompression. In 4/18 cases, multiple offending vessels were identified (22 conflicts overall). After decompression, a significant increase in activation threshold (p < 0.0001) confirmed the effectiveness of the maneuver; in 10 cases, Z-L response was abolished. Using this technique, we obtained excellent or good outcome (Barrow Neurological Institute 1-3) in all patients, with a significant reduction in postoperative Barrow Neurological Institute score as compared with preoperative one (median Barrow Neurological Institute 1; p = 0.0002). we provide the first evidence on the applicability and clinical usefulness of Z-L response during microvascular decompression surgery for trigeminal neuralgia.

Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures.

Distal myopathies are genetic muscle disorders caused by mutations in various genes. A study found that mutations in adenylosuccinate synthetase-like 1 (ADSSL1) are associated with distal myopathy in nine patients from six unrelated families in South Korea. Previous research showed that affected individuals experienced distal muscle weakness starting in adolescence, along with mild facial muscle weakness, slightly elevated or normal serum creatine kinase (CK) levels, and the presence of a few rimmed vacuoles in muscle fibers or minimal chronic myopathic damage. Previously reported patients in this category exhibited an early age of symptom onset and severe muscle weakness. In this study, we present a case of two sisters who share the same mutation locus but display distinct disease phenotypes. A literature review was conducted on distal myopathies in patients with ADSSL1 mutations, alongside a retrospective analysis of disease severity variability among siblings with a homozygous missense variant of ADSSL1. The study focuses on two sisters with differing disease manifestations despite carrying the same genetic mutation. The older sister showed lower ability in running and jumping compared to her peers at age 7 and experienced notable muscle weakness and atrophy by age 27, whereas the younger sister remained free of symptoms at age 30. These findings suggest that mutations at the same locus can result in varying disease outcomes, emphasizing the complexity of predicting disease progression based solely on genetic mutations.

Compare the Effectiveness of Mime Therapy on Facial Synkinesis in Idiopathic and Traumatic Lower Motor Neuron Facial Palsy

Background: The seventh cranial nerve has a core function of regulating emotional displays and speech. Facial paralysis, characterized by the loss of voluntary motor control on one or both sides, is commonly attributed to Bell’s palsy which accounts for 50-75% of cases and trauma responsible for 10-23% of cases. Various rehabilitation methods, including Mime Therapy, are employed to enhance facial muscle function. Objective: This study aims to compare Mime Therapy's impact to reduce the synkinesis of a face in individuals with idiopathic and traumatic lower motor neuron facial nerve palsy. Study Design: Experimental, Comparative Study Study Setting: Physiotherapy OPD, Neurology ward, and ENT ward of Himalayan Hospital, Dehradun Participant: This study involved 30 patients, with 20 in Group A (Idiopathic) and 10 in Group B (Traumatic), all of whom had House-Brackmann Scores of 3-5. The patient’s ages ranged from 20 to 70. Outcome Measure: Two outcome measures were used: House Brackmann Score and Sunnybrook Facial Grading System. Result: A noticeable difference in both outcome measures was observed. In the House Brackmann Score for group A (p-value &lt;0.001) and B (p-value=0.016), In Sunnybrook Facial Grading System for group A (p-value&lt;0.001) and B (p-value=0.002). However, when comparing the post-intervention results of both groups, no distinct variation was found in the outcome variables (p-value&gt;0.05). Conclusion: The study provides evidence demonstrating that Mime Therapy has been successful in effectively reducing Facial Synkinesis in patients with both idiopathic and traumatic LMN Facial Palsy. The results indicate a significant improvement in the condition, suggesting that Mime therapy can be an efficacious treatment approach for this type of facial paralysis. KEYWORDS: Mime Therapy, Facial Synkinesis, Idiopathic LMN Facial palsy, Traumatic LMN facial palsy, Bell’s palsy.