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American Journal of Physiology. Cell... Sep 2021
Topics: Animals; Cell Differentiation; Cell Fusion; Disease Models, Animal; Humans; Membrane Fusion; Membrane Proteins; Mice; Mice, Knockout; Mobius Syndrome; Muscle Proteins; Muscular Diseases; Mutation, Missense; Myoblasts, Skeletal; Pierre Robin Syndrome; Protein Isoforms; Zebrafish
PubMed: 34288723
DOI: 10.1152/ajpcell.00187.2021 -
American Journal of Physical Medicine &... Apr 2024
PubMed: 38630914
DOI: 10.1097/PHM.0000000000002498 -
The Egyptian Journal of Neurology,... 2022Sudden onset of unilateral weakness of the upper and lower muscles of one side of the face is defined as peripheral facial nerve palsy. Peripheral facial nerve palsy is...
BACKGROUND
Sudden onset of unilateral weakness of the upper and lower muscles of one side of the face is defined as peripheral facial nerve palsy. Peripheral facial nerve palsy is often idiopathic and sometimes it could be due to infectious, traumatic, neoplastic, and immune causes. This study aimed to report the clinical manifestation, evaluation, and prognosis in children with peripheral facial nerve palsy.
METHODS
57 children under 18 years of age diagnosed with peripheral facial nerve palsy at Çukurova University, Balcalı Hospital, between January 2018 and September 2021, were included in the study.
RESULTS
The mean age of the children at the time of diagnosis was 9.6 ± 7, 4 years. Thirty-two (56.1%) of the patients were female and 25 (43.9%) were male. A total of 57 patients were diagnosed with peripheral facial nerve palsy and categorized into many groups by etiology: idiopathic Bell's palsy in 27 (47.5%), infectious in 11 (19.2%), traumatic in 6 (10.5%), and others (due to congenital, immune, neoplastic, Melkersson-Rosenthal syndrome, drug toxicity, and iatrogenic causes) in 13 (22.8%). Forty-six of the children achieved full recovery under oral steroids within 1-7 months. Four patients with acute leukemia, myelodysplastic syndrome, Mobius syndrome and trauma did not recover and two patients (schwannoma, trauma) showed partial improvement. Five patients could not come to follow-up control.
CONCLUSION
Peripheral facial nerve palsy is a rare condition in children with different causes. It could be idiopathic, congenital, or due to infectious, traumatic, neoplastic, and immune reasons. So, when a child presents with facial palsy, a complete clinical history and a detailed clinical examination are recommended. Giving attention to the red flag is very important. Peripheral facial nerve palsy in children is considered to have a good prognosis.
PubMed: 36532829
DOI: 10.1186/s41983-022-00596-1 -
The Journal of Craniofacial Surgery 2020Airway management in patients with Moebius syndrome can be difficult due to the presence of orofacial malformations. This paper aims to present our institution's...
BACKGROUND
Airway management in patients with Moebius syndrome can be difficult due to the presence of orofacial malformations. This paper aims to present our institution's experience in the evaluation and management of the upper airway in patients with Moebius syndrome METHODOLOGY:: The authors performed a retrospective study including every patient with Moebius syndrome submitted to surgery between 2012 and 2017. Difficult airway was defined as one requiring more than 2 attempts to achieve endotracheal tube placement, a Mallampati score equal or above III, a Cormack score equal or above III, or need of a fiberscope during intubation.
RESULTS
Fifty-one patients were included, (39.3% males) requiring 172 procedures. Each patient required an average of 3.37 ± 1.94 anesthetic events. Average Body Mass Index (BMI) was 20.07 ± 6.06, 45.1% were overweight or obese. Four patients (7%) were considered as having a potentially difficult airway. Endotracheal intubation was achieved in all patients; 38 patients were intubated in a single attempt, while the rest were successfully intubated on a second try. Fiberscope was not necessary. Univariate analysis showed that overweight/obese patients were more likely to be considered as having a difficult airway (P = 0.03).
CONCLUSION
Intubation can be difficult in patients with Moebius syndrome, but failure is rare. Overweight or obese patients are at risk of presenting a difficult airway. An extensive preoperative evaluation and adequate communication between the members of the multidisciplinary team in charge of these patients is paramount.
Topics: Adolescent; Airway Management; Body Mass Index; Child; Child, Preschool; Female; Humans; Intubation, Intratracheal; Male; Mobius Syndrome; Obesity; Retrospective Studies; Young Adult
PubMed: 31261321
DOI: 10.1097/SCS.0000000000005692 -
Journal of Anatomy Oct 2022The alteration in mechanical properties of posterior pelvis ligaments may cause a biased pelvis deformation which, in turn, may contribute to hip and spine instability...
The alteration in mechanical properties of posterior pelvis ligaments may cause a biased pelvis deformation which, in turn, may contribute to hip and spine instability and malfunction. Here, the effect of different mechanical properties of ligaments on lumbopelvic deformation is analyzed via the finite element method. First, the improved finite element model was validated using experimental data from previous studies and then used to calculate the sensitivity of lumbopelvic deformation to changes in ligament mechanical properties, load magnitude, and unilateral ligament resection. The deformation of the lumbopelvic complex relative to a given load was predominant in the medial plane. The effect of unilateral resection on deformation appeared to be counterintuitive, suggesting that ligaments have the ability to redistribute load and that they play an important role in the mechanics of the lumbopelvic complex.
Topics: Biomechanical Phenomena; Finite Element Analysis; Ligaments; Ligaments, Articular; Pelvis; Sacroiliac Joint
PubMed: 35986644
DOI: 10.1111/joa.13739 -
Laryngo- Rhino- Otologie May 2022Numerous studies confirm that the vagus nerve stimulation (VNS) is an efficient, indirect neuromodulatory therapy with electrically induced current for epilepsy that...
Numerous studies confirm that the vagus nerve stimulation (VNS) is an efficient, indirect neuromodulatory therapy with electrically induced current for epilepsy that cannot be treated by epilepsy surgery and is therapy-refractory and for drug therapy-refractory depression. VNS is an established, evidence-based and in the long-term cost-effective therapy in an interdisciplinary overall concept.Long-term data on the safety and tolerance of the method are available despite the heterogeneity of the patient populations. Stimulation-related side effects like hoarseness, paresthesia, cough or dyspnea depend on the stimulation strength and often decrease with continuing therapy duration in the following years. Stimulation-related side effects of VNS can be well influenced by modifying the stimulation parameters. Overall, the invasive vagus nerve stimulation may be considered as a safe and well-tolerated therapy option.For invasive and transcutaneous vagus nerve stimulation, antiepileptic and antidepressant as well as positive cognitive effects could be proven. In contrast to drugs, VNS has no negative effect on cognition. In many cases, an improvement of the quality of life is possible.iVNS therapy has a low probability of complete seizure-freedom in cases of focal and genetically generalized epilepsy. It must be considered as palliative therapy, which means that it does not lead to healing and requires the continuation of specific medication. The functional principle is a general reduction of the neuronal excitability. This effect is achieved by a slow increase of the effectiveness sometimes over several years. Responders are those patients who experience a 50% reduction of the seizure incidence. Some studies even reveal seizure-freedom in 20% of the cases. Currently, it is not possible to differentiate between potential responders and non-responders before therapy/implantation.The current technical developments of the iVNS generators of the new generation like closed-loop system (cardiac-based seizure detection, CBSD) reduce also the risk for SUDEP (sudden unexpected death in epilepsy patients), a very rare, lethal complication of epilepsies, beside the seizure severity.iVNS may deteriorate an existing sleep apnea syndrome and therefore requires possible therapy interruption during nighttime (day-night programming or magnet use) beside the close cooperation with sleep physicians.The evaluation of the numerous iVNS trials of the past two decades showed multiple positive effects on other immunological, cardiological, and gastroenterological diseases so that additional therapy indications may be expected depending on future study results. Currently, the vagus nerve stimulation is in the focus of research in the disciplines of psychology, immunology, cardiology as well as pain and plasticity research with the desired potential of future medical application.Beside invasive vagus nerve stimulation with implantation of an IPG and an electrode, also devices for transdermal and thus non-invasive vagus nerve stimulation have been developed during the last years. According to the data that are currently available, they are less effective with regard to the reduction of the seizure severity and duration in cases of therapy-refractory epilepsy and slightly less effective regarding the improvement of depression symptoms. In this context, studies are missing that confirm high evidence of effectiveness. The same is true for the other indications that have been mentioned like tinnitus, cephalgia, gastrointestinal complaints etc. Another disadvantage of transcutaneous vagus nerve stimulation is that the stimulators have to be applied actively by the patients and are not permanently active, in contrast to implanted iVNS therapy systems. So they are only intermittently active; furthermore, the therapy adherence is uncertain.
Topics: Conservative Treatment; Depression; Drug Resistant Epilepsy; Epilepsy; Humans; Quality of Life; Seizures; Treatment Outcome; Vagus Nerve; Vagus Nerve Stimulation
PubMed: 35605616
DOI: 10.1055/a-1660-5591 -
Long-term results of strabismus surgery for treatment of esotropia in patients with Möbius syndrome.Journal of AAPOS : the Official... Jun 2023To evaluate the surgical results of Möbius syndrome esotropia following bilateral medial rectus recession with and without bilateral Hummelsheim procedure.
PURPOSE
To evaluate the surgical results of Möbius syndrome esotropia following bilateral medial rectus recession with and without bilateral Hummelsheim procedure.
METHODS
The medical records of patients with Möbius syndrome operated on by a single surgeon from 1993 to 2022 were studied retrospectively. For each patient, age, sex, and ocular deviation before and after surgery were retrieved. Success was defined as a horizontal deviation of up to 15 and vertical deviation of <10.
RESULTS
Eleven patients were included. Average patient age at the time of surgery was 4 years. Eight patients with esodeviation up to 70 underwent bilateral medial rectus recession; 3 patients with esotropia >70 underwent recession plus bilateral Hummelsheim procedure. The mean esodeviation before surgery was 52.5 in the first group and 86.6 in the second group. The mean horizontal deviation at early follow-up was esotropia of 7.4 in the first group and of 15 in the second group. The early success rate was 87% in the first group and 67% in the second group. Long-term follow-up revealed exoshift in 43% of the patients in the first group and all 3 patients in the second group.
CONCLUSIONS
In our small patient cohort of patients with Möbius syndrome, bilateral medial rectus recession corrected esodeviations of up to 70. In more severe cases (>70), adding bilateral Hummelsheim procedure was beneficial.
Topics: Humans; Child, Preschool; Esotropia; Mobius Syndrome; Eye Movements; Retrospective Studies; Treatment Outcome; Ophthalmologic Surgical Procedures
PubMed: 37182652
DOI: 10.1016/j.jaapos.2023.04.006 -
The Journal of Craniofacial Surgery Oct 2021Patients with Moebius syndrome may present a wide range of associated orofacial malformations, however, their craniofacial morphology has not been established via...
BACKGROUND
Patients with Moebius syndrome may present a wide range of associated orofacial malformations, however, their craniofacial morphology has not been established via controlled cephalometric studies.
OBJECTIVE
To present our institution's findings in the cephalometric evaluation in patients with Moebius syndrome.
METHODS
Retrospective, cross-sectional study that included patients with Moebius syndrome over 9 years of age who had lateral cephalometric radiographs. Cephalometric analysis measurements of Ricketts, Steiner, and McNamara were performed. Quantitative data are expressed as mean and standard deviation, and qualitative data are expressed in totals and percentages. Comparative statistics between classic and incomplete Moebius and between patients older and younger than 16 years of age were performed.
RESULTS
Twenty-four patients were included (54.2% females), mean age 17.46 ± 8.85 years. Fifteen patients (62.5%) had classic Moebius syndrome, and nine (37.5%) had incomplete Moebius. Sixty-six percent of the patients presented either micrognathia or retrognathia, 95% showed mandibular hypoplasia, and 75% had a skeletal class II. Maxillary height was increased resulting in a vertical growth pattern. Upper and lower incisors tended towards proclination, and upper and lower lips protruded over cephalometric markings, and a long upper lip was evidenced in 41% of the patients. No significant differences were noted when comparing classic and incomplete Moebius syndrome. Patients younger than 16 years of age had significantly larger sella-nasion-A point and sella-nasion-B point angles, and a higher proportion of skeletal class II cases.
CONCLUSIONS
Patients with Moebius syndrome have a vertical maxillary growth, micro or retrognathia, developing a skeletal class II and lip protrusion.
Topics: Adolescent; Adult; Cephalometry; Child; Cross-Sectional Studies; Female; Humans; Male; Mandible; Mobius Syndrome; Retrospective Studies; Young Adult
PubMed: 33606435
DOI: 10.1097/SCS.0000000000007559 -
BMC Oral Health Feb 2024Moebius syndrome (MS) is a rare, non-progressive, neuromuscular, congenic disease involving the oral maxillofacial region. The present study aimed to describe the oral...
BACKGROUND
Moebius syndrome (MS) is a rare, non-progressive, neuromuscular, congenic disease involving the oral maxillofacial region. The present study aimed to describe the oral and extraoral findings in MS patients and their comprehensive dental management.
METHODS
A digital search was carried out in PubMed/MEDLINE, Scopus, Web of Science, and Google Scholar, restricted to articles in English from Jan 01, 2000, to Apr 02, 2023, following PRISMA guidelines. The methodological quality of the studies was evaluated following the JBI guidelines. Qualitative analysis was carried out on the overall result, extraoral and intraoral manifestations, considering dental management as appropriate.
RESULTS
Twenty-three studies were included, and a total of 124 cases of patients with MS were analyzed. The 82% of patients with MS were younger than 15 years of age. The most frequent extraoral manifestations were blinking and visual problems (78,22%), malformations of the upper and lower limbs (58,22%), bilateral facial paralysis (12,90%), lack of facial expression (12.09%), and unilateral facial paralysis (6,45%). On the other hand, the most frequent oral manifestations were tongue deformities (78,22%), micrognathia (37,90%), labial incompetence (36,29%), cleft palate (22,87%), gothic palate (16,12%), microstomia (15,32%), anterior open bite (15,32%), dental caries (8,87%), and periodontal disease (8,06%). The majority of MS patients were treated by pediatric dentistry (60,86%), using a surgical approach (56,52%), and orthodontic and orthopedic maxillary (43,47%) followed by restorative (39,13%), and periodontal treatments (21,73%).
CONCLUSIONS
This systematic review demonstrates that patients with MS present a wide variety of oral and extraoral manifestations, for which dental treatments are planned and tailored to each patient in accordance with oral manifestations. These treatments encompass problem resolution and oral health maintenance, incorporating recent techniques in managing and treating patients with MS.
Topics: Child; Humans; Mobius Syndrome; Facial Paralysis; Dental Caries; Cleft Palate; Dental Care
PubMed: 38321523
DOI: 10.1186/s12903-024-03968-6 -
The Cleft Palate-craniofacial Journal :... Jul 2021Ankyloglossia superior syndrome is an extremely rare entity in which centrally located glossopalatine ankylosis is a principal feature. Some cases are accompanied by... (Review)
Review
Ankyloglossia superior syndrome is an extremely rare entity in which centrally located glossopalatine ankylosis is a principal feature. Some cases are accompanied by cleft palate, micrognathia, or tongue hypoplasia, and affected patients need careful nutritional and respiratory support. We describe a newborn girl in whom ankyloglossia superior syndrome comprised complex craniofacial malformations, including cleft palate, micrognathia, microglossia, and natal teeth as well as limb anomalies. Surgical treatment entailed release of synechiae, and glossopexy was performed successfully to prevent postsurgical airway complications and to ensure adequate nutrition by nipple feeding during infancy.
Topics: Ankyloglossia; Cleft Palate; Craniofacial Abnormalities; Female; Humans; Infant, Newborn; Mobius Syndrome; Tongue
PubMed: 33043685
DOI: 10.1177/1055665620964028