Echinococcosis presenting as an otogenic brain abscess: an unusual lesion of the middle ear cleft and temporal lobe

This paper presents a case of a 28-year-old male with a seizure episode and a 4-year history of intermittent tinnitus on the left ear. On computed tomography and magnetic resonance imaging, a density with rim enhancement was found at the temporal lobe, associated with mastoid tegmen destruction and middle ear mass, indicating cholesteatoma with complicating brain abscess. Evacuation of the brain abscess was performed with a combined otolaryngologic and neurosurgical procedures (canal wall-down mastoidectomy and temporal craniotomy). The pathology turned out to be infestation with Echinococcus granulosus.

Cerebellar cleft: a form of prenatal cerebellar disruption

In contrast to malformations, cerebellar disruptions have attracted little interest in the literature. We draw attention for the first time to the hypothesis that cerebellar clefts are residual changes following a prenatal cerebellar insult, and represent disruptions. We reviewed the clinical records and MR findings of six patients with a cerebellar cleft, two of whom also had prenatal MRI at 24 weeks of gestation. The clefts were located in the left cerebellar hemisphere in five cases, in the right in one patient. Other typical findings included disorderly alignment of the cerebellar folia and fissures, irregular gray/white matter junction, and abnormal arborization of the white matter in all patients. The cerebellar cleft extended into the fourth ventricle in three cases, and in two children cystic cortical lesions were seen. Supratentorial schizencephaly was found in two patients. In two patients there was a documented fetal cerebellar hemorrhage at 24 weeks of gestation. We conclude that cerebellar clefts are residual changes resulting from a prenatal cerebellar insult and consequently represent disruptions rather than primary malformations. The supratentorial findings are also in agreement with an acquired lesion. The outcome in these children was variable, mainly depending of the presence of supratentorial lesions.

Evaluation of secondary functional cheilorhinoplasty during growth of cleft patients with residual lip and nasal deformities

PURPOSE: The aim of the study was to evaluate the clinical outcomes of secondary functional cheilorhinoplasty of residual lip and nasal deformities caused by muscular deficiency in cleft patients. PATIENTS AND METHODS: During a 4-year period, 31 patients underwent cheilorhinoplasty, including complete reopening of the cleft borders and differentiated mimic muscle reorientation. In 21 patients, remarkable residual clefts of the anterior palate were also closed. Simultaneous alveolar bone grafting was performed in 15 patients. The minimum follow-up was 1 year. Cosmetic features evaluated were spontaneous facial appearance and changes in position of the nasal floor and the philtrum. The width of the alar base was measured. For functional outcomes, deficiency during mimic movements was evaluated, using standardized photographs taken preoperatively and postoperatively. The final results, judged according to defined criteria with several clinical factors, were compared. RESULTS: Cosmetic and functional improvement was achieved in all patients. In young patients (aged 4 to 9 years), the improvements were noteworthy. There were no differences in outcomes between the groups with and without simultaneous grafting, except for unilateral cases with minor muscular deficiency, in whom bone grafting before cheilorhinoplasty led to better results. CONCLUSION: In cases of major muscular deficiency, early cheilorhinoplasty should be performed at age 7 years, without waiting for the usual timing of bone grafting. In minor and moderate cases, the operation can ideally be done in combination with bone grafting.

Reference photographs for nasolabial appearance rating in unilateral cleft lip and palate

A popular method for nasolabial rating in unilateral cleft lip and palate (UCLP) is the Asher-McDade system consisting of a 5-point ordinal scale assessing nasal form, nasal symmetry, nasal profile, and vermilion border. The aim of the current study was to identify reference photographs illustrating this scale to facilitate its use.Four observers assessed nasolabial appearance on frontal and profile photographs of the nasolabial area of 42 children of Caucasian origin with a repaired UCLP at age 9 years. Cronbachs alpha, based on the individual scores of the 4 observers, ranged from 0.73 to 0.82 for the 4 nasolabial ratings, indicating a good reliability. The reliability of the overall score (mean of the 4 component scores) was also high (Cronbachs alpha, 0.83). Both for the nasolabial component ratings and for the overall score, duplicate measurement errors were small. The reliability for the mean of the 4 observers' scores was good, Spearman rank correlation coefficients ranging from 0.56 to 0.96.Subsequently, photographs were selected that showed the highest agreement among observers. For each of the 4 components (eg, nasal form, nasal deviation, nasal profile, and shape of the vermilion border), 5 photographs were selected to illustrate the whole range of the scale (score, 1-5), resulting in the selection of 20 pictures.It was concluded that nasolabial appearance rating can be performed reliably using a panel of judges and averaging the scores of all observers. Reference photographs, as developed from this study, may facilitate the rating task.

Nasolabial esthetics in children with complete unilateral cleft lip and palate after 1- versus 3-stage treatment protocols

PURPOSE: Facial esthetics play an important role in social interactions. However, children with a repaired complete unilateral cleft lip and palate usually show some disfigurement of the nasolabial area. To date, few studies have assessed the nasolabial appearance after different treatment protocols. The aim of the present study was to compare the nasolabial esthetics after 1- and 3-stage treatment protocols. MATERIALS AND METHODS: Four components of the nasolabial appearance (nasal form, nasal deviation, mucocutaneous junction, and profile view) were assessed by 4 raters in 108 consecutively treated children who had undergone either 1-stage closure (Warsaw group, 41 boys and 19 girls, mean age 10.8 years, SD 2.0) or 3-stage (Nijmegen group, 30 boys and 18 girls, mean age 8.9 years, SD 0.7). A 5-grade esthetic index of Asher-McDade was used, in which grade 1 indicates the most esthetic and grade 5 the least esthetic outcome. RESULTS: The nasal form was judged the least esthetic in both groups and graded 3.1 (SD 1.1) and 3.2 (SD 1.1). The nasal deviation, mucocutaneous junction, and profile view were scored from 2.1 (SD 0.8) to 2.3 (SD 1.0) in both groups. The treatment outcome after the Warsaw and Nijmegen protocols was comparable. Neither overall nor any of the 4 components of the nasolabial appearance showed intercenter differences (P > .1). CONCLUSIONS: The nasolabial appearance after the Warsaw (1-stage) and Nijmegen (3-stage) protocols was comparable. The technique of lip repair (triangular flap in Warsaw and Millard rotation advancement in Nijmegen) gave comparable results for the esthetics of the nasolabial area.

Quantitative assessment of oral orbicular muscle deformation after cleft lip reconstruction: an ultrasound elastography study

Reconstruction of a cleft lip leads inevitably to scar tissue formation. Scar tissue within the restored oral orbicular muscle might be assessed by quantification of the local contractility of this muscle. Furthermore, information about the contraction capability of the oral orbicular muscle is crucial for planning the revision surgery of an individual patient. We used ultrasound elastography to determine the local deformation (strain) of the upper lip and to differentiate contracting muscle from passive scar tissue. Raw ultrasound data (radio-frequency format; rf-) were acquired, while the lips were brought from normal state into a pout condition and back in normal state, in three patients and three normal individuals. During this movement, the oral orbicular muscle contracts and, consequently, thickens in contrast to scar tissue that will not contract, or even expand. An iterative coarse-to-fine strain estimation method was used to calculate the local tissue strain. Analysis of the raw ultrasound data allows estimation of tissue strain with a high precision. The minimum strain that can be assessed reproducibly is 0.1%. In normal individuals, strain of the orbicular oral muscle was in the order of 20%. Also, a uniform strain distribution in the oral orbicular muscle was found. However, in patients deviating values were found in the region of the reconstruction and the muscle tissue surrounding that. In two patients with a successful reconstruction, strain was reduced by 6% in the reconstructed region with respect to the normal parts of the muscle (from 22% to 16% and from 25% to 19%). In a patient with severe aesthetical and functional disability, strain decreased from 30% in the normal region to 5% in the reconstructed region. With ultrasound elastography, the strain of the oral orbicular muscle can be quantified. In healthy subjects, the strain profiles and maximum strain values in all parts of the muscle were similar. The maximum strain of the muscle during pout was 20% +/- 1%. In surgically repaired cleft lips, decreased deformation was observed.

The etiology of cleft palate formation in BMP7-deficient mice

Palatogenesis is a complex process implying growth, elevation and fusion of the two lateral palatal shelves during embryogenesis. This process is tightly controlled by genetic and mechanistic cues that also coordinate the growth of other orofacial structures. Failure at any of these steps can result in cleft palate, which is a frequent craniofacial malformation in humans. To understand the etiology of cleft palate linked to the BMP signaling pathway, we studied palatogenesis in Bmp7-deficient mouse embryos. Bmp7 expression was found in several orofacial structures including the edges of the palatal shelves prior and during their fusion. Bmp7 deletion resulted in a general alteration of oral cavity morphology, unpaired palatal shelf elevation, delayed shelf approximation, and subsequent lack of fusion. Cell proliferation and expression of specific genes involved in palatogenesis were not altered in Bmp7-deficient embryos. Conditional ablation of Bmp7 with Keratin14-Cre or Wnt1-Cre revealed that neither epithelial nor neural crest-specific loss of Bmp7 alone could recapitulate the cleft palate phenotype. Palatal shelves from mutant embryos were able to fuse when cultured in vitro as isolated shelves in proximity, but not when cultured as whole upper jaw explants. Thus, deformations in the oral cavity of Bmp7-deficient embryos such as the shorter and wider mandible were not solely responsible for cleft palate formation. These findings indicate a requirement for Bmp7 for the coordination of both developmental and mechanistic aspects of palatogenesis.

Facts and myths regarding the maxillary midline frenum and its treatment: a systematic review of the literature

OBJECTIVE To systematically review the current literature on the maxillary midline frenum and associated conditions and complications, as well as the recommended treatment options. METHOD AND MATERIALS A detailed MEDLINE database search was carried out to provide evidence about the epidemiology, associated pathologies, and treatment options regarding the maxillary frenum. Of the 206 initially identified articles, 48 met the inclusion criteria. RESULTS The maxillary frenum is highly associated with a number of syndromes and developmental abnormalities. A hypertrophic frenum may be involved in the etiology of the midline diastema. There is also a tendency by orthodontists to suggest posttreatment removal of the frenum (frenectomy). Studies on the cause of gingival recession due to the maxillary frenum are inconclusive. An injured frenum in combination with other traumas and doubtful history might point to child abuse. The involvement of hyperplastic frena in the pathogenesis of peri-implant diseases remains uncertain. There seems to be a clinical interest regarding lasers for surgery for treatment of maxillary frena. The superiority of laser treatment in relation to conventional surgical methods has not yet been demonstrated in the literature. CONCLUSION A maxillary frenum is a clinical symptom in numerous syndromic conditions and plays a role in the development of the median midline diastema. Nevertheless, the contribution to gingival recession and peri-implant diseases in the region of the maxillary incisors is rather controversial. Laser techniques are reported as the method of choice for the surgical removal of frena; however, this needs to be substantiated by appropriate prospective controlled studies.

Cephalometric outcome of two types of palatoplasty in complete unilateral cleft lip and palate

In complete unilateral cleft lip and palate (CLP), a vomerplasty is assumed to improve midfacial growth because of the reduction in scarring in the growth-sensitive areas of the palate. Our aim, therefore, was to evaluate maxillofacial morphology after a modified Langenbeck technique or a vomerplasty in children with complete unilateral CLP who were operated on by a single surgeon. As part of a one-stage closure of complete unilateral CLP done during the first year of life, the technique for repair of the hard palate repair differed between the two groups. In the modified group (n=37, mean age 11 years) a modified von Langenbeck technique was used that resulted in denudation of the bony surface on the non-cleft side only. In the vomerplasty group (n=37, mean age 11 years) a vomerplasty was used to cover the palatal bone. Lateral cephalograms from both groups were compared using the Eurocleft protocol. Fourteen angular variables were measured and 2 ratios calculated. Skeletal morphology in the groups was comparable. Maxillary incisor inclination (ILs/NL angle) and interincisal angle (ILs/ILi) were better after vomerplasty (p=0.001 and 0.04, respectively) but soft tissue facial convexity (gs-prn-pgs) was less good after vomerplasty (p=0.009). However, there was no difference between the groups in the other variable that reflected facial convexity (gs-sn-pgs) (p=0.22). Modification of the palatoplasty had a limited effect on skeletal morphology in preadolescent children, but it resulted in better inclination of the maxillary incisors.

Aesthetic outcome of cleft lip and palate treatment. Perceptions of patients, families, and health professionals compared to the general public

The aesthetic outcome of cleft treatment is of great importance due to its complex management and the psychosocial consequences of this defect. The aim of the study was to assess the aesthetic evaluations of patients following cleft surgery by various groups and investigate potential associations of the assessments with life quality parameters. Head photos of 12 adult patients with treated unilateral cleft lip and palate were evaluated by laypeople and professionals. A questionnaire was distributed and answered by the patients and their parents. Intra-panel agreement was high (α > 0.8) for laypeople and professionals. Between-groups agreement was high for both laypeople and professionals, but not when patients and/or parents were tested. Professionals, parents, and patients were more satisfied with patients' appearance than laypeople, although in general all groups were not highly satisfied. Low satisfaction with aesthetics correlated with increased self-reported influence of the cleft in the patients' social activity and professional life (0.56 < rho < 0.74, p < 0.05). These findings highlight the observed negative influence of the cleft on the patient's social activity and professional life and underline the need for the highest quality of surgical outcome for this group of patients.

Facial esthetics in children with unilateral cleft lip and palate 3 years after alveolar bonegrafting combined with rhinoplasty between 2 and 4 years of age

OBJECTIVES To evaluate facial esthetics in patients with unilateral cleft lip and palate (UCLP) after alveolar bone grafting combined with rhinoplasty between 2 and 4 years of age. DESIGN Retrospective case-control study. SETTING The Department of Pediatric Surgery, Institute of Mother and Child, Warsaw, Poland. MATERIAL AND METHODS Photographs of full faces and cropped images of five nasolabial components: nasal deviation, nasal form, nasal profile, vermillion border, and inferior view were assessed by 5 professional and 14 layraters in 29 children (23 boys and 6 girls; mean age = 5.3 years, SD 0.5; Early-grafted group) and 30 children (20 boys and 10 girls; mean age = 5.5 years, SD 1.0; Non-grafted group) with complete unilateral cleft lip and palate repaired with a one-stage closure. The groups differed regarding the timing of alveolar bone grafting: in the Early-grafted group, alveolar bone grafting in combination with rhinoplasty (ABG-R) was performed between 2 and 4 years of age (mean age = 2.3 years; SD 0.6); in the Non-grafted group, the alveolar defect was grafted after 9 years of age. No primary nose correction was carried out in any group. To rate esthetics, a modified five-grade esthetic index of Asher-McDade was used, where grade 1 means the most esthetic and grade 5 - the least esthetic outcome. RESULTS Esthetics of full faces and of all nasolabial elements in the Early-grafted group was significantly better than in Non-grafted group. The scores in the Early-grafted group ranged from 2.30 to 2.66 points, whereas in the Non-grafted group ranged from 2.66 to 3.17 points. All intergroup differences were statistically significant (p < 0.05). CONCLUSIONS Three years post-operatively, early alveolar bone grafting combined with rhinoplasty is favorable for facial esthetics in children with UCLP, but a longer follow-up is needed to assess whether the improvement was permanent.

Dating brittle tectonic movements with cleft monazite: Fluid-rock interaction and formation of REE minerals

[1] Two millimeter-sized hydrothermal monazites from an open fissure (cleft) that developed late during a dextral transpressional deformation event in the Aar Massif, Switzerland, have been investigated using electron microprobe and ion probe. The monazites are characterized by high Th/U ratios typical of other hydrothermal monazites. Deformation events in the area have been subdivided into three phases: (D1) main thrusting including formation of a new schistosity, (D2) dextral transpression, and (D3) local crenulation including development of a new schistosity. The two younger deformational structures are related to a subvertically oriented intermediate stress axis, which is characteristic for strike slip deformation. The inferred stress environment is consistent with observed kinematics and the opening of such clefts. Therefore, the investigated monazite-bearing cleft formed at the end of D2 and/or D3, and during dextral movements along NNW dipping planes. Interaction of cleft-filling hydrothermal fluid with wall rock results in rare earth element (REE) mineral formation and alteration of the wall rock. The main newly formed REE minerals are Y-Si, Y-Nb-Ti minerals, and monazite. Despite these mineralogical changes, the bulk chemistry of the system remains constant and thus these mineralogical changes require redistribution of elements via a fluid over short distances (centimeter). Low-grade alteration enables local redistribution of REE, related to the stability of the accessory phases. This allows high precision isotope dating of cleft monazite. 232Th/208Pb ages are not affected by excess Pb and yield growth domain ages between 8.03 ± 0.22 and 6.25 ± 0.60 Ma. Monazite crystallization in brittle structures is coeval or younger than 8 Ma zircon fission track data and hence occurred below 280°C.

Gene Discovery in Nonsyndromic Cleft Lip with or without Cleft Palate

Nonsyndromic cleft lip with or without cleft palate (NSCLP), a common, complex orofacial birth defect that affects approximately 4,000 newborns each year in the United States, is caused by both genetic and environmental factors. Orofacial clefts affect the mouth and nose, causing severe deformity of the face, which require medical, dental and speech therapies. Despite having substantial genetic liability, less than 25% of the genetic contribute to NSCLP has been identified. The studies described in this thesis were performed to identify genes that contribute to NSCLP and to demonstrate the role of these genes in normal craniofacial development. Using genome scan and candidate gene approaches, novel associations with NSCLP were identified. These include MYH9 (7 SNPs, 0.009≤p<0.05), Wnt3A (4 SNPs, 0.001≤p≤0.005), Wnt11 (2 SNPs, 0.001≤p≤0.01) and CRISPLD2 (4 SNPs, 0.001≤p<0.05). The most interesting findings were for CRISPLD2. This gene is expressed in the fused mouse palate at E17.5. In zebrafish, crispld2 localized to the craniofacial region by one day post fertilization. Morpholino knockdown of crispld2 resulted in a lower survival rates and altered neural crest cell (NCC) clustering. Because NCCs form the tissues that populate the craniofacies, this NCC abnormality resulted in cartilage abnormalities of the jaw including fewer ceratobranchial cartilages forming the lower jaw (three pairs compared to five) and broader craniofacies compared to wild-type zebrafish. These findings suggest that the CRISPLD2 gene plays an important role in normal craniofacial development and perturbation of this gene in humans contributes to orofacial clefting. Overall, these results are important because they contribute to our understanding of normal craniofacial development and orofacial clefting etiology, information that can be used to develop better methods to diagnose, counsel and potentially treat NSCLP patients.

Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate.

Orofacial clefts (OFC; MIM 119530) are among the most common major birth defects. Here, we carried out mutation screening of the PVR and PVRL2 genes, which are both located at an OFC linkage region at 19q13 (OFC3) and are closely related to PVRL1, which has been associated with both syndromic and non-syndromic cleft lip and palate (nsCLP). We screened a total of 73 nsCLP patients and 105 non-cleft controls from the USA for variants in PVR and PVRL2, including all exons and encompassing all isoforms. We identified four variants in PVR and five in PVRL2. One non-synonymous PVR variant, A67T, was more frequent among nsCLP patients than among normal controls, but this difference did not achieve statistical significance.

Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate.

Nonsyndromic cleft lip with or without cleft palate (nsCL/P, MIM 119530) is perhaps the most common major birth defect. Homozygous PVRL1 loss-of-function mutations result in an autosomal recessive CL/P syndrome, CLPED1, and a PVRL1 nonsense mutation is associated with sporadic nsCL/P in Northern Venezuela. To address the more general role of PVRL1 variation in risk of nsCL/P, we carried out mutation analysis of PVRL1 in North American and Australian nsCL/P cases and population-matched controls. We identified a total of 15 variants, 5 of which were seen in both populations and 1 of which, an in-frame insertion at Glu442, was more frequent in patients than in controls in both populations, though the difference was not statistically significant. Another variant, which is specific to the PVRL1 beta (HIgR) isoform, S447L, was marginally associated with nsCL/P in North American Caucasian patients, but not in Australian patients, and overall variants that affect the beta-isoform were significantly more frequent among North American patients. One Australian patient had a splice junction mutation of PVRL1. Our results suggest that PVRL1 may play a minor role in susceptibility to the occurrence of nsCL/P in some Caucasian populations, and that variation involving the beta (HIgR) isoform might have particular importance for risk of orofacial clefts. Nevertheless, these results underscore the need for studies that involve very large numbers when assessing the possible role of rare variants in risk of complex traits such as nsCL/P.