Heerfordt syndrome with unilateral facial nerve palsy: a rare presentation of sarcoidosis.

BACKGROUND: Heerfordt syndrome is rare and is characterized by fever, uveitis, parotid gland enlargement, and facial nerve palsy. We hereby present a case of Heerfordt syndrome with unilateral facial nerve palsy as a presentation of sarcoidosis. HISTORY AND SIGNS: A 29-year-old male patient from Sri Lanka presented with eye redness OU, blurred vision OD, fever, headache, night sweat, fatigue, and weight loss (5 kg over 1 month). Examination revealed mild anterior uveitis OU, mild vitritis OD, fundus whitish lesions OU, left otalgia, taste disorders, bilateral parotid gland enlargement, and left facial nerve palsy. Work-up for infection or tumour was negative. Chest computed tomography and transbronchial lymph node biopsy set the diagnosis of sarcoidosis. THERAPY AND OUTCOME: The patient recovered completely within 2 months under therapy with prednisone and azathioprine. One year after onset of treatment, no recurrence was noted. CONCLUSIONS: Heerfordt syndrome is a rare manifestation of neurosarcoidosis and has to be included in the differential diagnosis of facial nerve palsy.

The use of 3D planning in facial surgery: Preliminary observations.

Three-dimensional (3D) planning is becoming a more commonly used tool in maxillofacial surgery. At first used only virtually, 3D planning now also enables the creation of useful intraoperative aids such as cutting guides, which decrease the operative difficulty. In our center, we have used 3D planning in various domains of facial surgery and have investigated the advantages of this technique. We have also addressed the difficulties associated with its use. 3D planning increases the accuracy of reconstructive surgery, decreases operating time, whilst maintaining excellent esthetic results. However, its use is restricted to osseous reconstruction at this stage and once planning has been undertaken, it cannot be reversed or altered intraoperatively. Despite the attractive nature of this new tool, its uses and practicalities must be further evaluated. In particular, cost-effectiveness, hospital stay, and patient perceived benefits must be assessed.

Le traitement chirurgical de la paralysie faciale définitive [Surgical facial reanimation after persisting facial paralysis].

Facial reanimation following persistent facial paralysis can be managed with surgical procedures of varying complexity. The choice of the technique is mainly determined by the cause of facial paralysis, the age and desires of the patient. The techniques most commonly used are the nerve grafts (VII-VII, XII-VII, cross facial graft), dynamic muscle transfers (temporal myoplasty, free muscle transfert) and static suspensions. An intensive rehabilitation through specific exercises after all procedures is essential to archieve good results.

Parallel evolution of facial stripe patterns in the Neolamprologus brichardi/pulcher species complex endemic to Lake Tanganyika.

Colour pattern diversity can be due to random processes or to natural or sexual selection. Consequently, similarities in colour patterns are not always correlated with common ancestry, but may result from convergent evolution under shared selection pressures or drift. Neolamprologus brichardi and Neolamprologus pulcher have been described as two distinct species based on differences in the arrangement of two dark bars on the operculum. Our study uses DNA sequences of the mitochondrial control region to show that relatedness of haplotypes disagrees with species assignment based on head colour pattern. This suggests repeated parallel evolution of particular stripe patterns. The complete lack of shared haplotypes between populations of the same or different phenotypes reflects strong philopatric behaviour, possibly induced by the cooperative breeding mode in which offspring remain in their natal territory and serve as helpers until they disperse to nearby territories or take over a breeding position. Concordant phylogeographic patterns between N. brichardi/N. pulcher populations and other rock-dwelling cichlids suggest that the same colonization routes have been taken by sympatric species and that these routes were affected by lake level fluctuations in the past.

Effets du stress sur l'évolution des représentations parentales au cours des 12 premiers mois de vie d'un enfant né avec une fente faciale = Stress influence on parental representations' development during the first year of a child born with a facial cleft

La venue au monde d'un enfant avec une fente faciale constitue un événement stressant, voire traumatique, pour les parents. Que ce soit à travers le risque de symptômes associés, la logistique d'alimentation ou par simples raisons d'esthétisme, de nombreuses personnes vivent l'annonce de la présence d'une fente faciale comme une intrusion brutale dans le vécu de la grossesse et une interruption momentanée de l'investissement représentationnel du foetus. À travers notre recherche, nous montrons qu'un haut stress n'influe pas forcément négativement sur le développement de la relation entre le parent et l'enfant et que, au contraire, dans le cas des pères, il peut contribuer à l'implication émotionnelle envers le bébé. Le moment de l'annonce de la malformation a aussi une importance dans les représentations à propos de l'enfant puisque si elle est faite durant la période prénatale, elle permet aux parents un réarrangement des représentations afin de mieux accueillir le bébé le jour de sa naissance. The birth of a child with a facial cleft is often seen as a very stressing event for both parents. Risks of comorbidity, difficulty in nutrition or just aesthetical reasons are frequently invoked while describing this moment. The announcement of the deformation is felt like a brutal intrusion in representations associated to pregnancy. Then, we can observe a kind of disinvestment of the coming baby. Through our study, we find that high stress has not always a bad issue on relationship between parents and infants. In contrary, this kind of chronic stress can preserve the well-being of the relationship, especially for fatherhood. The time of facial deformation announcement also plays its part in representations about the baby. Before birth, it opens room for reordering and modifying representations, then the baby will be accepted as it should be on his birthday.

Unilateral facial swelling in an infant.

The melanotic neuroectodermal tumour of infancy (MNTI) is an uncommon, usually benign neoplasm which is most commonly found in the maxilla. We describe the case of a 6-month-old boy who was referred with a swiftly increasing swelling of the left cheek. After imaging and biopsy, MNTI was confirmed, and surgical resection was performed. Literature demonstrates that most MNTIs occur in the head and neck area and most of those occur in the maxilla. Although most cases are benign, 6.5% are malignant with metastatic disease. Treatment and outcome are discussed in detail. The case highlights the importance of making the diagnosis MNTI early on in order to achieve an optimal outcome.

Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients.

Thirteen years ago, Motegi and colleagues (J Med Genet 1987;24:696-697) summarized the specific facial phenotype of six Japanese retinoblastoma patients with interstitial 13q14 deletions. Among a series of 228 propositi with retinoblastoma referred to the Lausanne Retinoblastoma Clinic for treatment and genetic counseling between 1986 and 1997, 13 (5.7%) were diagnosed with a cytogenetic de-novo 13q14 deletion. We confirm the presence of the reported facial phenotype in our population of Caucasian patients and describe additional clinical traits, thus extending the facial phenotype associated with the 13q14 deletion. Del(13q14) comprises, among others, cranial anomalies, frontal bossing, deeply grooved and long philtrum, depressed and broad nasal bridge, bulbous tip of the nose, thick lower lip, thin upper lip, broad cheeks, and large ears and lobules. Recognition of this particular facial appearance was instrumental in the genetic diagnosis of 13q deletions and in the presymptomatic diagnosis of retinoblastoma in a significant number of our cases. Identification of this phenotype in a retinoblastoma patient allows for efficient diagnosis of recurrence in his progeny and/or sibship, while its ignorance will compromise genetic counseling due to the possible difficulties in detecting large deletions by standard molecular mutation analysis. Recognition of this syndrome in newborns without known familial risk for retinoblastoma is even more important as it is a clear warning sign that indicates immediate ophthalmic examination.

Neural substrates of social emotion regulation: a FMRI study on imitation and expressive suppression to dynamic facial signals.

Emotion regulation is crucial for successfully engaging in social interactions. Yet, little is known about the neural mechanisms controlling behavioral responses to emotional expressions perceived in the face of other people, which constitute a key element of interpersonal communication. Here, we investigated brain systems involved in social emotion perception and regulation, using functional magnetic resonance imaging (fMRI) in 20 healthy participants. The latter saw dynamic facial expressions of either happiness or sadness, and were asked to either imitate the expression or to suppress any expression on their own face (in addition to a gender judgment control task). fMRI results revealed higher activity in regions associated with emotion (e.g., the insula), motor function (e.g., motor cortex), and theory of mind (e.g., [pre]cuneus) during imitation. Activity in dorsal cingulate cortex was also increased during imitation, possibly reflecting greater action monitoring or conflict with own feeling states. In addition, premotor regions were more strongly activated during both imitation and suppression, suggesting a recruitment of motor control for both the production and inhibition of emotion expressions. Expressive suppression (eSUP) produced increases in dorsolateral and lateral prefrontal cortex typically related to cognitive control. These results suggest that voluntary imitation and eSUP modulate brain responses to emotional signals perceived from faces, by up- and down-regulating activity in distributed subcortical and cortical networks that are particularly involved in emotion, action monitoring, and cognitive control.

Doré et le cinéma

Selon Ray Harryhausen, maître des effets spéciaux cinématographiques, « Gustave Doré aurait été un grand chef opérateur [...] il regardait les choses avec le point de vue de la caméra ». L'oeuvre de Doré a marqué de manière indélébile l'imaginaire filmique depuis ses origines. Et le cinéma, en retour, a « gravé » Doré dans l'imaginaire du XXe siècle. Peu de films sur la Bible, depuis la Vie et Passion de Jésus Christ produit par Pathé en 1902, qui ne se réfèrent à ses illustrations, ni d'adaptation cinématographique de Dante ou encore de Don Quichotte qui ne l'aient pris comme modèle, de Georg Wilhelm Pabst et Orson Welles à Terry Gilliam. Il n'est pas de films sur la vie londonienne et victorienne qui n'empruntent leurs décors aux visions de Londres, un pèlerinage, qu'il s'agisse de David Lean, de Roman Polanski ou de Tim Burton. Nombre de scènes oniriques, fantastiques, fantasmagoriques ont puisé dans l'oeuvre graphique de Doré, depuis le Voyage dans la lune de Georges Méliès en 1902. Si dans le domaine du dessin animé ou de l'animation, la dette de Walt Disney envers Doré est immense, ses forêts « primitives », notamment celles d'Atala, ont aussi servi aux différentes versions de King Kong, de l'original de 1933 au film de 2005 de Peter Jackson qui s'était déjà appuyé sur l'oeuvre de Doré dans Le Seigneur des anneaux. Ce chapitre vise à saisir l'étendue et la signification de cette imprégnation de l'imaginaire de Doré dans la culture de masse, de la dette explicite de Jean Cocteau envers les illustrations des Contes de Perrault dans La Belle et la bête (1945) aux réminiscences doréennes du personnage de Chewbacca dans la Guerre des Etoiles ou de la saga d'Harry Potter.

Cinema and the Work of Doré

According to Ray Harryhausen, a special effects expert in the film industry, "Gustave Doré would have made a great director of photography . . . He saw things from the point of view of the camera." Doré's work has had a permanent impact on the imaginative realm of film since its very early days. In return, the silver screen has etched Doré into the 20th century imagination. Almost every film about the Bible since The Life and Passion of Jesus Christ produced by Pathé in 1902 refers to his illustrations, and every film adaptation of Dante or Don Quixote has used him as a model, from Georg Wilhelm Pabst and Orson Welles to Terry Gilliam. All films dealing with life in London in the Victorian era by directors ranging from David Lean, to Roman Polanski and Tim Burton draw on the visions in London: a pilgrimage for their sets. A large number of dream fantastical or phantasmagorical scenes take their inspiration from Doré's graphic world, beginning with Georges Méliès' A Trip to the Moon in 1902. In the realm of cartoons and animation, Walt Disney owes a huge debt to Doré. Doré primal forests, from Atala in particular, were also used in the various versions of King Kong from 1933 to the 2005 film by Peter Jackson, who had already drawn on Doré for The Lord of the Rings. Jean Cocteau was also indebted to the illustrations for Perrault's Fairy Tales for his Beauty and the Beast (1945), as was George Lucas for the character Chewbacca in Star Wars (1977) and even the Harry Potter film series. Through his influence on film history, Doré shaped the mass culture imagination.