Facial self-mutilation: an analysis of published cases

OBJECTIVES Facial self-mutilation is rare. It is usually discussed from the psychiatric or psychoanalytic perspectives but has little prominence in general medical literature. Our objective was to describe facial self-mutilation in terms of its comorbidities, and to outline the different types of facial mutilation, as well as the basic approach to the patients with facial self-mutilation. METHODS We undertook a review of all published cases of facial self-mutilation (1960-2011). RESULTS We identified 200 published cases in 123 relevant papers. Four major groups of comorbidities emerged: psychiatric, neurological and hereditary disorders, and a group of patients without identified comorbidities. There were three general patterns of facial self-mutilation: (1) major and definitive mutilation, with the ocular globe as primary target--seen in patients with psychotic disorders; (2) stereotypical mutilation involving the oral cavity and of variable degree of severity, most often seen in patients with hereditary neuropathy or encephalopathy; (3) mild chronic self-mutilation, seen in patients with non-psychotic psychiatric disorders, acquired neurological disorders, and patients without comorbidities. About 20% of patients that mutilated their face also mutilated extra-facial structures. Patients with psychiatric conditions, especially those with psychotic disorders, had significantly higher (p<0.05) rates of permanent facial self-mutilation than others. Most treatment plans were very individually based, but some principles, such as prevention of irreversible loss of function and structure, or development of infection are applicable to all patients with facial self-mutilation. CONCLUSIONS Facial self-mutilation is a potentially severe manifestation of diverse conditions. Several aspects of facial self-mutilation remain to be fully characterised from a clinical perspective.

Measurement of the parity-violating asymmetry parameter αb and the helicity amplitudes for the decay Λ 0 b →J/ψ⁰ with the ATLAS detector

A measurement of the parity-violating decay asymmetry parameter, αb , and the helicity amplitudes for the decay Λ 0 b →J/ψ(μ + μ − )Λ 0 (pπ − ) is reported. The analysis is based on 1400 Λ 0 b and Λ ¯ 0 b baryons selected in 4.6  fb −1 of proton–proton collision data with a center-of-mass energy of 7 TeV recorded by the ATLAS experiment at the LHC. By combining the Λ 0 b and Λ ¯ 0 b samples under the assumption of CP conservation, the value of α b is measured to be 0.30±0.16(stat)±0.06(syst) . This measurement provides a test of theoretical models based on perturbative QCD or heavy-quark effective theory.

Genetic analysis of white facial and leg markings in the Swiss Franches-Montagnes Horse Breed

White markings and spotting patterns in animal species are thought to be a result of the domestication process. They often serve for the identification of individuals but sometimes are accompanied by complex pathological syndromes. In the Swiss Franches-Montagnes horse population, white markings increased vastly in size and occurrence during the past 30 years, although the breeding goal demands a horse with as little depigmented areas as possible. In order to improve selection and avoid more excessive depigmentation on the population level, we estimated population parameters and breeding values for white head and anterior and posterior leg markings. Heritabilities and genetic correlations for the traits were high (h(2) > 0.5). A strong positive correlation was found between the chestnut allele at the melanocortin-1-receptor gene locus and the extent of white markings. Segregation analysis revealed that our data fit best to a model including a polygenic effect and a biallelic locus with a dominant-recessive mode of inheritance. The recessive allele was found to be the white trait-increasing allele. Multilocus linkage disequilibrium analysis allowed the mapping of the putative major locus to a chromosomal region on ECA3q harboring the KIT gene.

Facial Feedback Affects Perceived Intensity but Not Quality of Emotional Expressions

Motivated by conflicting evidence in the literature, we re-assessed the role of facial feedback when detecting quantitative or qualitative changes in others’ emotional expressions. Fifty-three healthy adults observed self-paced morph sequences where the emotional facial expression either changed quantitatively (i.e., sad-to-neutral, neutral-to-sad, happy-to-neutral, neutral-to-happy) or qualitatively (i.e. from sad to happy, or from happy to sad). Observers held a pen in their own mouth to induce smiling or frowning during the detection task. When morph sequences started or ended with neutral expressions we replicated a congruency effect: Happiness was perceived longer and sooner while smiling; sadness was perceived longer and sooner while frowning. Interestingly, no such congruency effects occurred for transitions between emotional expressions. These results suggest that facial feedback is especially useful when evaluating the intensity of a facial expression, but less so when we have to recognize which emotion our counterpart is expressing.

Facial Nerve Image Enhancement from CBCT using Supervised Learning Technique

Facial nerve segmentation plays an important role in surgical planning of cochlear implantation. Clinically available CBCT images are used for surgical planning. However, its relatively low resolution renders the identification of the facial nerve difficult. In this work, we present a supervised learning approach to enhance facial nerve image information from CBCT. A supervised learning approach based on multi-output random forest was employed to learn the mapping between CBCT and micro-CT images. Evaluation was performed qualitatively and quantitatively by using the predicted image as input for a previously published dedicated facial nerve segmentation, and cochlear implantation surgical planning software, OtoPlan. Results show the potential of the proposed approach to improve facial nerve image quality as imaged by CBCT and to leverage its segmentation using OtoPlan.

Psychomotor retardation is linked to frontal alpha asymmetry in major depression

BACKGROUND Psychomotor disturbances are a main clinical feature of major depressive disorder (MDD) but little is known about their EEG signature. One of the most replicated EEG findings in MDD is resting frontal asymmetry in the alpha band (FAA), which is thought to be a correlate of withdrawal behavior and reduced approach motivation. The purpose of this study was to assess psychomotor alterations, alpha band power, FAA and investigate the association between them. METHODS 20 MDD patients and 19 healthy subjects were enrolled. Alpha power and FAA scores were calculated from a resting state EEG. Wrist actigraphy was recorded from the non-dominant arm for 24 h and activity level scores (AL) were extrapolated from the wakeful periods. RESULTS MDD patients had a left-lateralized frontal alpha activity and lower AL scores when compared to healthy subjects. A significant correlation was found between mean FAA and AL scores. A negative covariance between power in the lower alpha range and AL scores over the motor cortex bilaterally was detected. LIMITATIONS Relatively small sample size. Patients were pharmacologically treated with antidepressants. CONCLUSIONS This study replicates the finding of left-lateralized FAA and lower AL scores in MDD patients, and establishes the first evidence of significant correlations between alpha power, FAA scores and measures of motor activity, which may be interpreted as an expression of impaired motivational drive in MDD.

Cortical control of facial expression.

The present topical review deals with the motor control of facial expressions in humans. Facial expressions are a central part of human communication. Emotional face expressions have a crucial role in human non-verbal behavior, allowing a rapid transfer of information between individuals. Facial expressions can be both voluntarily or emotionally controlled. Recent studies in non-human primates and humans revealed that the motor control of facial expressions has a distributed neural representation. At least 5 cortical regions on the medial and lateral aspects of each hemisphere are involved: the primary motor cortex, the ventral lateral premotor cortex, the supplementary motor area on the medial wall, and, finally, the rostral and caudal cingulate cortex. The results of studies in humans and non-human primates suggest that the innervation of the face is bilaterally controlled for the upper part, and mainly contralaterally controlled for the lower part. Furthermore, the primary motor cortex, the ventral lateral premotor cortex, and the supplementary motor area are essential for the voluntary control of facial expressions. In contrast, the cingulate cortical areas are important for emotional expression, since they receive input from different structures of the limbic system. This article is protected by copyright. All rights reserved.

A Vertical Asymmetry in Saccades

Visual exploration of natural scenes imposes demands that differ between the upper and the lower visual hemifield. Yet little is known about how ocular motor performance is affected by the location of visual stimuli or the direction of a behavioural response. We compared saccadic latencies between upper and lower hemifield in a variety of conditions, including short-latency prosaccades, long-latency prosaccades, antisaccades, memory-guided sac- cades and saccades with increased attentional and selection demand. All saccade types, except memory guided saccades, had shorter latencies when saccades were directed to- wards the upper field as compared to downward saccades (p<0.05). This upper field reaction time advantage probably arises in ocular motor rather than visual processing. It may originate in structures involved in motor preparation rather than execution.

A Neuromonitoring Approach to Facial Nerve Preservation During Image-guided Robotic Cochlear Implantation.

HYPOTHESIS A multielectrode probe in combination with an optimized stimulation protocol could provide sufficient sensitivity and specificity to act as an effective safety mechanism for preservation of the facial nerve in case of an unsafe drill distance during image-guided cochlear implantation. BACKGROUND A minimally invasive cochlear implantation is enabled by image-guided and robotic-assisted drilling of an access tunnel to the middle ear cavity. The approach requires the drill to pass at distances below 1 mm from the facial nerve and thus safety mechanisms for protecting this critical structure are required. Neuromonitoring is currently used to determine facial nerve proximity in mastoidectomy but lacks sensitivity and specificity necessaries to effectively distinguish the close distance ranges experienced in the minimally invasive approach, possibly because of current shunting of uninsulated stimulating drilling tools in the drill tunnel and because of nonoptimized stimulation parameters. To this end, we propose an advanced neuromonitoring approach using varying levels of stimulation parameters together with an integrated bipolar and monopolar stimulating probe. MATERIALS AND METHODS An in vivo study (sheep model) was conducted in which measurements at specifically planned and navigated lateral distances from the facial nerve were performed to determine if specific sets of stimulation parameters in combination with the proposed neuromonitoring system could reliably detect an imminent collision with the facial nerve. For the accurate positioning of the neuromonitoring probe, a dedicated robotic system for image-guided cochlear implantation was used and drilling accuracy was corrected on postoperative microcomputed tomographic images. RESULTS From 29 trajectories analyzed in five different subjects, a correlation between stimulus threshold and drill-to-facial nerve distance was found in trajectories colliding with the facial nerve (distance <0.1 mm). The shortest pulse duration that provided the highest linear correlation between stimulation intensity and drill-to-facial nerve distance was 250 μs. Only at low stimulus intensity values (≤0.3 mA) and with the bipolar configurations of the probe did the neuromonitoring system enable sufficient lateral specificity (>95%) at distances to the facial nerve below 0.5 mm. However, reduction in stimulus threshold to 0.3 mA or lower resulted in a decrease of facial nerve distance detection range below 0.1 mm (>95% sensitivity). Subsequent histopathology follow-up of three representative cases where the neuromonitoring system could reliably detect a collision with the facial nerve (distance <0.1 mm) revealed either mild or inexistent damage to the nerve fascicles. CONCLUSION Our findings suggest that although no general correlation between facial nerve distance and stimulation threshold existed, possibly because of variances in patient-specific anatomy, correlations at very close distances to the facial nerve and high levels of specificity would enable a binary response warning system to be developed using the proposed probe at low stimulation currents.

Cessation of facial growth in subjects with short, average, and long facial types - Implications for the timing of implant placement

Placement of a single-tooth implant should be performed when a patient's facial growth has ceased. In this retrospective observational study, we evaluated if there was a difference in the timing of cessation of craniofacial growth in short, average, and long facial types. Based on the value of the angle between cranial base and mandibular plane (SN/MP angle), three groups comprising 48 subjects with short facial type (SF; SN/MP ≤28°), 77 with average facial type (AF; SN/MP ≥31.5° and ≤34.5°), and 44 with long facial type (LF; SN/MP ≥38°) were selected. Facial growth was assessed on lateral cephalograms taken at 15.4 years of age, and 2, 5, and 10 years later. Variables were considered to be stable when the difference between two successive measurements was less than 1 mm or 1°. We found no difference between facial types in the timing of cessation of facial growth. Depending on the variable, the mean age when variables became stable ranged from 18.0 years (Is-Pal in LF group) to 22.0 years (SN/MP in LF group). However, facial growth continued at the last follow-up in approximately 20% subjects. This study demonstrates that facial type is not associated with the timing of cessation of facial growth.

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 of 11 families (82 %). We sequenced C5orf42 in 313 JS probands and identified mutations in 28 (8.9 %), most with a phenotype of pure JS. Only 2 out of 17 OFDVI patients (11.7 %) were mutated. A comparison of mutated vs. non-mutated OFDVI patients showed that preaxial and mesoaxial polydactyly, hypothalamic hamartoma and other congenital defects may predict C5orf42 mutations, while tongue hamartomas are more common in negative patients.