Assessment of Cortical Auditory Function Using Electrophysiological and Neuropsychological Measurements in Children with Bone-Anchored Hearing Aids.

Children suffering from conductive or mixed hearing loss may benefit from a bone-anchored hearing aid system (BAHA Attract implantable prosthesis). After audiological rehabilitation, different aspects of development are improving. The objective of this case report is to propose a comprehensive framework for monitoring cortical auditory function after implantation of a bone-anchored hearing aid system by using electrophysiological and neuropsychological measurements. We present the case of a seven-year-old boy with a congenital hearing loss due to a plurimalformative syndrome, including outer and middle ear malformation. After the diagnosis of hearing loss and the audiological rehabilitation with a BAHA Attract implantable prosthesis, the cortical auditory evoked potentials were recorded. We performed a neuropsychological evaluation using the Wechsler Intelligence Scale for Children - Fourth Edition, which was applied according to a standard procedure. The P1 latency was delayed according to the age (an objective biomarker for quantifying cortical auditory function). The neuropsychological evaluation revealed that the child's working memory and verbal reasoning abilities were in the borderline range comparing with his nonverbal reasoning abilities and processing abilities, which were in the average and below-average range, respectively. Cortical auditory evoked potentials, along with neuropsychological evaluation, could be an essential tool for monitoring cortical auditory function in children with hearing loss after a bone-anchored hearing aid implantation.

Inverse Bell's phenomenon: a rare complication of levator resection surgery in a case of congenital ptosis.

A 27-year-old woman with moderate congenital ptosis and a positive Marcus-Gunn jaw winking reflex underwent levator resection surgery to correct the ptosis. Preoperatively, a normal Bell's reflex was documented. Postoperatively, she developed an inverse Bell's reflex and increased symptoms of ocular surface exposure. The Bell's reflex normalised in a week, with resolution of the corneal exposure. Reversal of the Bell's reflex can be an unforeseen complication following maximal levator resection. The early postoperative care in such cases is crucial, and the cornea must be protected from exposure changes. Accurate documentation of the Bell's phenomenon preoperatively is vital to recognise this rare event and plan management.

Marcus Gunn Jaw-Winking Syndrome: a Case Report.

INTRODUCTION: Marcus Gunn syndrome is a rare phenomenon with very less number of cases reported in literature. It may be congenital or acquired. AIM: The aim of this case report was to report the clinical characteristics of Marcus Gunn patient from our Clinic. CASE REPORT: A comprehensive opthalmologic examination, CDVA (corrected distance visual acuity), fundus examination and photography, was conducted in Marcus Gunn patient. Clinical findings of patient presented as - chin positioned slightly upwards, extraocular motility normal on both eyes, cover test with normal findings, pupillary examination normal on both eyes. Left upper eyelid was in a lower position than the right one. On right eye, rima interpalpebrarum was 9 mm with upgaze of 13mm. On the left eye, rima interpalpebrarum was 5 mm with upgaze of 6 mm, and with open mouth, left rima interpalpebrarum was 10 mm. Visual acuity on both eyes was 1.0. Cycloplegic refraction on both eyes was +0,75 diopters (D), and Lang test was normal. In the differential diagnosis of patients with ptosis, Marcus Gunn jaw winking syndrome should be considered especially if it improves during feeding, sucking, chewing, smiling or any kind of mouth movement. In case of ptosis always do the jaw test. Have the infant bottle-feed. An older child can chew gum. Have the patient open the mouth, move the jaw from side to side, or protrude the jaw forward. CONCLUSION: Address first to treatment of any amblyopia if present - eyeglasses, patching etc., or strabismus. Think twice before deciding to operate.

Marcus Gunn Jaw-Winking Syndrome Associated with Morning Glory Disc Anomaly.

Marcus Gunn jaw-winking syndrome (MGJWS) is a rare form of congenital blepharoptosis and one of the congenital cranial dysinnervation disorders (CCDD). In addition, morning glory disc anomaly (MGDA) is a congenital optic disc anomaly of unknown etiology. The present report is the first to describe an association between MGJWS and MGDA in an otherwise healthy 7-year-old boy. He also had counting finger vision, anisometropia, esotropia, and monocular elevation deficiency in the same eye. In the literature, both MGJWS and MGDA have been reported to be associated with Duane retraction syndrome, a form of CCDD.

RYR1 causing distal myopathy.

BACKGROUND: Congenital myopathies due to ryanodine receptor (RYR1) mutations are increasingly identified and correlate with a wide range of phenotypes, most commonly that of malignant hyperthermia susceptibility and central cores on muscle biopsy with rare reports of distal muscle weakness, but in the setting of early onset global weakness. METHODS: We report a case of a patient presenting with childhood onset hand stiffness and adult onset progressive hand weakness and jaw contractures discovered to have two variants in the RYR1 gene. RESULTS: The patient manifested with distal upper limb weakness which progressed to involve the distal lower limb, proximal upper limb, as well as the face in addition to limited jaw opening. Creatine kinase was mildly elevated with EMG findings supporting a myopathy. Muscle biopsy showed features consistent with centronuclear myopathy. Whole exome sequencing revealed a novel heterozygous pathogenic variant in RYR1 (c.12315_12328delAGAAATCCAGTTCC, p.Glu4106Alafs*8), and a heterozygous missense variant (c.10648C>T, p.Arg3550Trp) of unknown significance in compound heterozygous state. CONCLUSION: We expand the spectrum of RYR1-related myopathy with the description of a novel phenotype in an adult patient presenting with hand weakness and suggest considering RYR1 analysis in the diagnosis of distal myopathies.

Prevalencia de Anomalías Dentomaxilares y Necesidad de Tratamiento en Adolescentes / Prevalence of Dentomaxillary Anomalies and Treatment Needs in Adolescents

RESUMEN: Las anomalías dentomaxilares (ADM) constituyen un problema de salud pública en Chile, lo que genera la necesidad de un diagnóstico sistemático y la asignación de prioridades de tratamiento. Las ADM que afectan la estética pueden constituir una barrera para la inserción social de los adolescentes. El Dental Aesthetic Index (IED), es un instrumento que permite jerarquizar la necesidad de tratamiento de las ADM. El propósito de esta investigación fue caracterizar las ADM, necesidad de tratamiento a través de IED y auto-percepción estética en escolares de 12 a 15 años. Estudio de Prevalencia en adolescentes de 12 a 15 años, de la ciudad de Viña del Mar. El criterio de exclusión fue tratamiento ortodóncico previo. Se seleccionaron 204 sujetos mediante asignación uniforme con un nivel de confianza de 95 %. Variables recogidas: Edad, tipo de establecimiento educacional, sexo, percepción estética y IED por componentes. La prevalencia según IED fue de 63 % [56 % - 70 %]. La necesidad de tratamiento fue 44,2 % electivo, 31,01 % altamente deseable y 24,81 % obligatorio y prioritario. El IED Comunitario dio 29.5. Se encontró una relación significativa entre IED y percepción estética con un p-valor: 0,006 (Rho: 0,343). La prevalencia de anomalías dentomaxilares medido a través del indicador IED alcanza el 63 % y el IED comunitario de 29,54 % afirmando que el grupo "requiere tratamiento electivo por ADM definida"; en los establecimientos particulares está subestimado pues algunos casos ya han sido tratados con anterioridad a esta investigación.

ABSTRACT: Dentomaxillary anomalies are a public health problem in Chile, resulting in the need for screening and prioritization of treatment. Dentomaxillary anomalies affecting the aesthetics can be a barrier to social integration of adolescents. The Dental Aesthetic Index (DAI) is an instrument to prioritize the need for treatment of malocclusions. The purpose of this research was to characterize the malocclusions, orthodontic treatment needs and esthetic self-perception in schoolchildren from 12 to 15 years through DAI. Prevalence Study in 12 to 15 year-old adolescents from Viña del Mar. The exclusion criteria was previous orthodontic treatment. The sample was 204 subjects selected by uniform allocation with a confidence level of 95 %. Variables included age, type of educational establishment, sex, aesthetic perception and DAI by component. Prevalence of dentomaxillary anomalies by DAI was 63 % [56 % - 70 %], Treatment needs were 44.2 % treatment elective, 31.01 % highly desirable and 24.81 % mandatory. The Community's DAI was 29.5. The relationship between DAI and aesthetic perception was significant (p-value: 0.006; Rho: 0.343). The prevalence of dento-maxillary anomalies measured by DAI reaches 63 % and the communal DAI was 29.54 stating that the group "requires elective treatment for definite malocclusion"; in private schools, it is underestimated because some cases had already been treated prior to this investigation.

Association between 3-dimensional mandibular morphology and condylar movement in subjects with mandibular asymmetry.

INTRODUCTION: The purpose of this study was to evaluate the hypothesis that 3-dimensional mandibular morphology is correlated with condylar movement in patients with mandibular asymmetry. METHODS: Subjects were classified into 2 groups (n = 25 each): mandibular asymmetry with a menton deviation greater than 4 mm and no mandibular asymmetry with a menton deviation less than 4 mm. Linear and volumetric measurements of 3-dimensional mandibular morphology were recorded using computed tomography. Mandibular functional movement was recorded by computerized axiography (CADIAX; Gamma Dental, Klosterneuburg, Austria), and condylar path length, sagittal condylar inclination, and transverse condylar inclination on protrusion were measured. We calculated side-to-side asymmetry (shifted side vs nonshifted side) in mandibular morphology and assessed condylar movement by using an asymmetry ratio (nonshifted side/shifted side). RESULTS: Significant differences in mandibular morphology and condylar movement were found between the 2 groups. In the group with menton deviation greater than 4 mm, significant correlations were found between the asymmetry ratio of mandibular morphology and condylar movement: ie, condylar path length and transverse condylar inclination. No significant correlations were found between any of these measurements in the group with menton deviation less than 4 mm. CONCLUSIONS: In support of our hypothesis, the results suggested that 3-dimensional mandibular morphologic asymmetry is associated with condylar movement in subjects with mandibular asymmetry.

Marcus Gunn Jaw-Winking Syndrome: A Comprehensive Review and Report of Four Novel Cases.

PURPOSE: To report 4 cases of Marcus Gunn jaw-winking synkinesis (MGJWS) in the absence of ptosis. METHODS: A retrospective review of patients with MGJWS and congenital ptosis was compiled from the public and private subspecialty adult and pediatric oculoplastic practices of the 2 senior authors (AAM, TGH). Clinical data collected on patients with MGJWS included visual acuity, stereopsis, ocular motility, side of jaw-wink, presence or absence of ptosis, levator function, clinical photographs and videos, and any management undertaken. RESULTS: A total of 848 cases of congenital ptosis were seen. Of these, there were 72 consecutive patients with MGJWS, of which 4 cases (5.6%) had no ptosis. One patient had bilateral MGJWS, with ptosis on one side only. The authors found the incidence of MGJWS in our study population to be 8.5% of all congenital ptosis cases. When the authors excluded syndromic, neurogenic, and myopathic causes of congenital ptosis, the incidence was 12.1%. In addition, the authors found a trend toward females with simple congenital ptosis and MGJWS being affected on the left side, however this was not statistically significant. CONCLUSIONS: The authors report the first case series of MGJWS in the absence of ptosis within the second largest series ever reported. These findings may help further our understanding of the etiology behind MGJWS.

Root and Eruption Defects in c-Fos Mice Are Driven by Loss of Osteoclasts.

c-Fos homozygous mice lack osteoclasts with a failure of the teeth to erupt and with an arrest of root development. Here, we characterize the defects associated with the failure in root development and the loss of the tooth-bone interface, and we investigate the underlying causes. We show that, while homozygous c-Fos mice have no multinucleated osteoclasts, heterozygous mice have a reduction in the number of osteoclasts with a reduction in the tooth-bone interface during development and subtle skeletal defects postnatally. In the homozygous mutants bone is found to penetrate the tooth, particularly at the apical end, physically disrupting the root forming HERS (Hertwig's epithelial root sheath) cells. The cells of the HERS continue to proliferate but cannot extend downward due to the presence of bone, leading to a loss of root formation. Tooth germ culture showed that the developing tooth invaded the static bone in mutant tissue, rather than the bone encroaching on the tooth. Although c-Fos has been shown to be expressed in developing teeth, the defect in maintenance of the tooth-bone interface appears to be driven solely by the lack of osteoclasts, as this defect can be rescued in the presence of donor osteoclasts. The rescue suggests that signals from the tooth recruit osteoclasts to clear the bone from around the tooth, allowing the tooth to grow, form roots, and later erupt.

A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.

BACKGROUND: Congenital fibrosis of the extraocular muscles (CFEOM1) is classically a congenital, non-progressive, restrictive strabismus syndrome characterized by bilateral ptosis and ophthalmoplegia with an infraducted position of the globes. This autosomal dominant syndrome is caused by mutations in the KIF21A gene. METHODS AND RESULTS: In this report we describe a 5-year-old boy, and his mother, both of whom have a mutation in the KIF21A gene, who possesses typical features of CFEOM1 syndrome. Besides displaying typical features of CFEOM1, he demonstrated Marcus Gunn jaw-winking phenomenon. The patient additionally had a positive family history of such features. CONCLUSION: This is first report of the coexistence of CFEOM and Marcus Gunn jaw-winking phenomenon in a patient with a KIF21A mutation from Turkey. We explain the phenotypic findings associated with mutations in KIF21A including CFEOM1A and Marcus Gunn jaw-winking phenomenon.

A correlational study of serum alkaline phosphatase level and developmental mandibular laterognathism.

The abnormal cartilage/bone metabolism in unilateral condyle may be a direct factor that contributes to developmental mandibular laterognathism. However, although many molecules have been demonstrated to play crucial roles in the development of temporomandibular joints, the exact molecular mechanisms that lead to the disrupted condylar cartilage/bone development were greatly unknown. In this retrospective study, our findings revealed that serum alkaline phosphatase (ALP) level in adult patients with developmental mandibular laterognathism was lower than that in control subjects, and the serum ALP levels continue to reduce in adult patients (>20 years old). Although the exact relationship between the lower serum ALP level and developmental mandibular laterognathism is unclear, the findings further support the opinion that the condylar growth may sustain for a long time in the affected condyle in patients with developmental mandibular laterognathism and offer an alternative choice to use total serum ALP activity as a possible biomarker to assess condylar growth activity in patients with developmental mandibular laterognathism.

Copaiba oil effect on experimental jaw defect in Wistar rats.

PURPOSE: To evaluate the effects of copaiba oil on jaw defects repair in Wistar rats treated with bioglass or adipose tissue. METHODS: A jaw defect was randomly created in forty-two rats and filled with bioglass or adipose tissue. The two groups (Gbio and Gcell) were subdivided in three subgroups with seven animals each according to gavage administration: control (distillated water), oil (copaiba oil) and melox (meloxicam). Euthanasia was performed after forty post-operative days. The bone formation was analyzed regarding the histological aspects. RESULTS: The osteoclasts activity was observed only in four subgroups (p=0.78). Regarding the osteoblasts presence, it was very similar between the subgroups, the difference was due to Gcell-melox (p=0.009) that presented less osteoblastic activity. The inflammatory cells were more evident in Gcell-melox subgroup, however, there was no difference in comparison with the other subgroups (p=0.52). Bone formation was observed in all subgroups, just two animals showed no bone formation even after 40 days. More than 50% of bone matrix mineralization was observed in 56% (23 animals) of the analyzed areas. The bone matrix mineralization was not different between subgroups (p=0.60). CONCLUSIONS: The subgroups that received copaiba oil showed bone repair, although not statistically significant in comparison to subgroups treated with meloxicam or controls. Copaiba oil administered by gavage had no effect on bone repair in this experimental model.

Copaiba oil effect on experimental jaw defect in Wistar rats

PURPOSE: To evaluate the effects of copaiba oil on jaw defects repair in Wistar rats treated with bioglass or adipose tissue. METHODS: A jaw defect was randomly created in forty-two rats and filled with bioglass or adipose tissue. The two groups (Gbio and Gcell) were subdivided in three subgroups with seven animals each according to gavage administration: control (distillated water), oil (copaiba oil) and melox (meloxicam). Euthanasia was performed after forty post-operative days. The bone formation was analyzed regarding the histological aspects. RESULTS: The osteoclasts activity was observed only in four subgroups (p=0.78). Regarding the osteoblasts presence, it was very similar between the subgroups, the difference was due to Gcell-melox (p=0.009) that presented less osteoblastic activity. The inflammatory cells were more evident in Gcell-melox subgroup, however, there was no difference in comparison with the other subgroups (p=0.52). Bone formation was observed in all subgroups, just two animals showed no bone formation even after 40 days. More than 50% of bone matrix mineralization was observed in 56% (23 animals) of the analyzed areas. The bone matrix mineralization was not different between subgroups (p=0.60). CONCLUSIONS: The subgroups that received copaiba oil showed bone repair, although not statistically significant in comparison to subgroups treated whit meloxicam or controls. Copaiba oil administered by gavage had no effect on bone repair in this experimental model. .

Gender differences in the growing, abnormal, and aging jaw.

Despite wide variations in the size and shape of the human face, head, and body, there is remarkable consistency for quantifiable gender-specific facial traits. The relationships between the growing jaws and tooth eruption are complex, but they show gender-specific trajectories in children and adolescents. Disturbances in genetic, endocrine, and nutritional regulatory controls result in gender-specific and nonspecific disorders. Gender-specific differences are also apparent in the aging jaw, with the acceleration of jawbone atrophy upon loss of teeth, especially in women.

Marcus Gunn jaw winking synkinesis: report of two cases.

Marcus Gunn jaw winking synkinesis (MGJWS) is caused by congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. It has been observed in 2-13% of patients with congenital ptosis. Although bilateral cases were reported, most were unilateral and occurred more frequently on the left side than the right. We report two cases of children who presented with ptosis and were diagnosed with MGJWS.

A new method for determining the optimal CT threshold for extracting the upper airway.

OBJECTIVES: The purpose of this study was to evaluate the optimal upper threshold levels of a number of individuals and determine the most suitable upper threshold. METHODS: A phantom model and ten patients were used in this study. The phantom was made of acrylic resin and urethane resin and had nine pillar-shaped air spaces. The subjects were ten female patients with jaw deformities who were not affected by respiratory disease. The optimal threshold levels were determined using the "calculation of CT value disparities" (CCTD) technique, which we devised. In other words, the mean CT values along two lines (air space and soft tissue) were calculated and the optimal threshold level was determined as the level that produced the maximum difference between the CT values measured inside and outside of the air-space border. RESULTS: The optimal upper threshold levels of the nine phantom holes calculated using the CCTD technique in the front-on standing position and side-on standing position were -434 HU and -456 HU, respectively. The optimal upper threshold level of the ten patients calculated using the CCTD technique was -472 HU. The true threshold level of each patient was defined as the optimal threshold level calculated using the CCTD technique. The mean threshold level was defined as -472 HU. The absolute differences between the volume measurements obtained with these two measures were considered. Therefore, the no error values were -460 HU and -470 HU. CONCLUSIONS: We consider that the most suitable upper threshold level for extracting the airway is from -460 HU to -470 HU.

[Effect of adverse oral habits on the development of the dentomaxillary system]. / Influenta obiceiurilor vicioase asupra dezvoltarii aparatului dento-maxilar.

UNLABELLED: Main features of the dentomaxillary system (breathing, chewing, swallowing) are provided by the rhythmic movements of the mandible, tongue, lips, mimic muscles, learned during ontogenesis and coordinated neuromusculary and largely automated. AIM: The aim of our study was to prove the role of oral habits in the development of dentomaxillary anomalies. We made experimental investigations--model studies, fotostatic test for face and side face, radiological examinations, clinical general and ENT exam for accurately assess of the factors which contribute to the emergence and development of dentomaxillary anomalies. MATERIAL AND METHODS: The study group consisted of 175 children (94 girls and 81 boys) aged between 7 and 14 years. We made individual sheets for recording neuromuscular and oropharyngeal balance starting from a patient's overall clinical appearance. RESULTS: The diagnosis of most teenagers was first Angle's class of malocclusion with tongue thrusting and mouth breathing. Oral habits disrupt the muscular balance and bone growth producing changes in the dental arch and ocllusal characteristics. The high prevalence of dentomaxillary anomalies (52.57%) and obvious interrelationship with functional imbalances of the dentomaxillary system (62.82% of subjects examined) supports the implication of functional factors in those etiology. CONCLUSIONS: Suppression of vicious habits by methods of awareness, myogymnastic and functional reducing exercises are the first steps of early functional treatment for dentomaxillary anomalies.

Duane retraction syndrome type I, Marcus Gunn jaw-winking and crocodile tears in the same eye.

Duane retraction syndrome type I, Marcus Gunn jaw-winking and crocodile tears are all syndromes of congenital aberrant innervation. The authors describe a 17-month-old boy with Duane retraction syndrome type I, Marcus Gunn Jaw-winking, and crocodile tears in the same eye and discuss the proposed mechanisms of these conditions.