Reconfiguration and closure of lobe flux by reconnection during northward IMF: possible evidence for signatures in cusp/cleft auroral emissions

Observations are presented of the response of the dayside cusp/cleft aurora to changes in both the clock and elevation angles of the interplanetary magnetic field (IMF) vector, as monitored by the WIND spacecraft. The auroral observations are made in 630 nm light at the winter solstice near magnetic noon, using an all-sky camera and a meridian-scanning photometer on the island of Spitsbergen. The dominant change was the response to a northward turning of the IMF which caused a poleward retreat of the dayside aurora. A second, higher-latitude band of aurora was seen to form following the northward turning, which is interpreted as the effect of lobe reconnection which reconfigures open flux. We suggest that this was made possible in the winter hemisphere, despite the effect of the Earth's dipole tilt, by a relatively large negative X component of the IMF. A series of five events then formed in the poleward band and these propagated in a southwestward direction and faded at the equatorward edge of the lower-latitude band as it migrated poleward. It is shown that the auroral observations are consistent with overdraped lobe flux being generated by lobe reconnection in the winter hemisphere and subsequently being re-closed by lobe reconnection in the summer hemisphere. We propose that the balance between the reconnection rates at these two sites is modulated by the IMF elevation angle, such that when the IMF points more directly northward, the summer lobe reconnection site dominates, re-closing all overdraped lobe flux and eventually becoming disconnected from the Northern Hemisphere.

The source population for the cusp and cleft/LLBL for southward IMF

The distinction between plasma properties in different dayside regions in the Earth's magnetosphere is of strong interest as it is often indicative of specific physical processes. This is certainly true for the distinction between low latitude boundary layer (LLBL) and cusp plasma, which has been attributed to the effects of plasma diffusion across the magnetopause (LLBL) versus more direct entry of magnetosheath plasma(cusp). It is also the case, however, that quite different plasma regions can result more simply from a common source plasma, and from different stages of temporal evolution of the plasma associated with magnetospheric convection. In this paper, we show that, for southward interplanetary magnetic field (IMF) conditions, the distinction between the cusp and cleft/LLBL at low altitudes may result from;the single process of magnetosheath plasma entry into the magnetosphere on reconnected field lines. The different plasma characteristics of the two regions result from the properties of the source magnetosheath ion distribution and the effects of magnetic reconnection. Using well known properties of the magnetosheath, several predictions concerning the cusp and cleft/ LLBL precipitation are readily derived.

Variability of dayside convection and motions of the cusp/cleft aurora

We present measurements of the ionospheric plasma flow over the range of invariant latitudes 71–76°, observed at 10-second resolution using both the EISCAT radars, with simultaneous observations of the 630 nm cusp/cleft aurora made by a meridian-scanning photometer at Ny Ålesund, Svalbard. A major increase in the trans-auroral voltage from 5 to 40 kV (associated with sunward convection in the early afternoon sector) is found to follow a southward motion of the aurora and coincide with the onset of regular transient auroral breakup events. It is shown that these observations are consistent with recent theoretical work on how ionospheric flows are excited by time-dependent reconnection at the dayside magnetopause.

The cleft ion fountain: a two-dimensional kinetic model

The transport of ionospheric ions from a source in the polar cleft ionosphere through the polar magnetosphere is investigated using a two-dimensional, kinetic, trajectory-based code. The transport model includes the effects of gravitation, longitudinal magnetic gradient force, convection electric fields, and parallel electric fields. Individual ion trajectories as well as distribution functions and resulting bulk parameters of density, parallel average energy, and parallel flux for a presumed cleft ionosphere source distribution are presented for various conditions to illustrate parametrically the dependences on source energies, convection electric field strengths, ion masses, and parallel electric field strengths. The essential features of the model are consistent with the concept of a cleft-based ion fountain supplying ionospheric ions to the polar magnetosphere, and the resulting plasma distributions and parameters are in general agreement with recent low-energy ion measurements from the DE 1 satellite.

Holoprosencephaly and Holoprosencephaly-Like Phenotypes: Review of Facial and Molecular Findings in Patients From a Craniofacial Hospital in Brazil

Here we report on the clinical and genetic data for a large sample of Brazilian patients studied at the Hospital de Reabilitacao de Anomalas Craniofaciais-Universidade de Sao Paulo (HRAC-USP) who presented with either the classic holoprosencephaly or the holoprosencephaly-like (HPE-L) phenotype. The sample included patients without detected mutations in some HPE determinant genes such as SHH, GLI2, SIX3, TGIF, and PTCH, as well as the photographic documentation of the previously reported patients in our Center. The HPE-L phenotype has been also called of HPE ``minor forms"" or ""microforms,"" The variable phenotype, the challenge of genetic counseling, and the similarities to patients with isolated cleft lip/palate are discussed. (c) 2010 Wiley-Liss, Inc.

Frontonasal Dysplasia, Severe Neuropsychological Delay, and Midline Central Nervous System Anomalies: Report of 10 Brazilian Male Patients

Here we report on 10 male patients with frontonasal dysplasia, cleft lip/palate, mental retardation, lack of language acquisition, and severe central nervous system involvement. Imaging studies disclosed absence of the corpus callosum, midline cysts, and an abnormally modeled cerebellum. Neuronal heterotopias were present in five patients and parieto-occipital encephalocele in three patients. We suggest that this pattern found exclusively in males, most likely represents a newly recognized syndrome distilled from the group of disorders subsumed under frontonasal dysplasia. (C) 2009 Wiley-Liss, Inc.

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

Development of secondary palate requires strict regulation of ECM remodeling: sequential distribution of RECK, MMP-2, MMP-3, and MMP-9

We have evaluated RECK (reversion-inducing-cysteine-rich protein with Kazal motifs), MMP-2 (matrix metalloproteinase-2), MMP-3, and MMP-9 involvement during palate development in mice by using various techniques. Immunohistochemical features revealed the distribution of RECK, MMP-2, and MMP-3 in the mesenchymal tissue and in the midline epithelial seam at embryonic day 13 (E13), MMPs-2, -3, and -9 being particularly expressed at E14 and E14.5. In contrast, RECK was weakly immunostained at these times. Involvement of MMPs was validated by measuring not only their protein expression, but also their activity (zymograms). In situ hybridization signal (ISH) for RECK transcript was distributed in mesenchymal and epithelial regions within palatal shelves at all periods evaluated. Importantly, the results from ISH analysis were in accord with those obtained by real-time polymerase chain reaction. The expression of RECK was found to be temporally regulated, which suggested possible roles in palatal ontogeny. Taken together, our results clearly show that remodeling of the extracellular matrix is finely modulated during secondary palate development and occurs in a sequential manner.

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation

In this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial findings were present in his mentally normal mother and maternal grandfather, both presenting with lower lip pits. Cleft lip was present in patient's father. Analysis of the VWS1 and VWS2 regions were performed to elucidate the molecular basis of the phenotype of the propositus. Screening or mutations at the IRF6 gene detected a pathogenic mutation (c.960G > C) in the propositus and in his mother; and a single nucleotide polymorphism (c.175-5C > G) in the propositus and in his father. Clinical and genetic aspects of this case are discussed.

Blepharo-cheilo-dontic (BCD) syndrome: Report on four new patients

We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia, Two were sporadic cases and two were familial cases, a mother and her equally affected son, Recently, the reports with different combination of these signs were reviewed by Gorlin et al, [1996; Am J Med Genet 65:109-112] and named blepharo-cheilo-dontic (BCD) syndrome, Variable expressivity and autosomal dominant inheritance were observed. (C) 1998 Wiley-Liss, Inc.

Achados audiológicos e eletrofisiológicos de indivíduos com a síndrome G/BBB

A síndrome G/BBB é uma condição rara, caracterizada por hipertelorismo, fissura de lábio e palato e hipospádia. Não foram encontrados trabalhos sobre a audição em indivíduos com esta síndrome. OBJETIVO: Investigar a função auditiva em pacientes com síndrome G/BBB quanto à ocorrência ou não de perda auditiva e a condução nervosa auditiva periférica e central. MATERIAL E MÉTODO: Catorze pacientes de 7 a 34 anos, do gênero masculino, com a síndrome G/BBB, foram avaliados por meio de otoscopia, audiometria, timpanometria e potenciais evocados auditivos de tronco encefálico (PEATE). Forma de Estudo: Estudo de série clínico prospectivo. RESULTADOS: Limiares audiométricos normais em 12 (66,7%) pacientes da amostra e alterados em dois (33,3%), sendo um com perda condutiva e um neurossensorial. Quanto ao PEATE, foram encontrados: latências absolutas da onda I normais em todos os pacientes, aumento das latências absolutas da onda III e V em dois e seis pacientes respectivamente; latências interpicos I-III, III-V e I-V aumentadas em quatro, três e oito pacientes, respectivamente. CONCLUSÃO: Perdas auditivas periféricas podem ocorrer na síndrome G/BBB. Há evidências de comprometimento das vias auditivas centrais em nível do tronco encefálico. Estudos com exames de imagem são necessários para maior clareza dos achados clínicos.

Nasoendoscopy of velopharynx before and during diagnostic therapy

Nasoendoscopy is an important tool for assessing velopharyngeal function. The purpose of this study was to analyze velar and pharyngeal wall movement and velopharyngeal gap during nasoendoscopic evaluation of the velopharynx before and during diagnostic therapy. Nasoendoscopic recordings of 10 children with operated cleft lip and palate were analyzed according to the International Working Group Guidelines. Ratings of movement of velum and pharyngeal walls, and size, location and shape of gaps were analyzed by 3 speech-language pathologists (SLPs). Imaging was obtained during repetitions of the syllable /pa/ during a single nasoendoscopic evaluation: (a) before diagnostic therapy, and (b) after the children were instructed to impound and increase intraoral air pressure (diagnostic therapy). Once the patients impounded and directed air pressure orally, the displacement of the velum, right, left and posterior pharyngeal walls increased 40, 70, 80, and 10%, respectively. Statistical significance for displacement was found only for right and left lateral pharyngeal walls. Reduction in gap size was observed for 30% of the patients and other 40% of the gaps disappeared. Changes in gap size were found to be statistically significant between the two conditions. In nasoendoscopic assessment, the full potential of velopharyngeal displacement may not be completely elicited when the patient is asked only to repeat a speech stimulus. Optimization of information can be done with the use of diagnostic therapy's strategies to manipulate VP function. Assuring the participation of the SLP to conduct diagnostic therapy is essential for management of velopharyngeal dysfunction.

Submucous fibroids classification - STEP-W classification

Objective: To develop a new submucous fibroids classification for evaluating the viability and the degree of difficulty and complexity of a hysteroscopic myomectomy.Methods: We have included more four parameters in addition to penetration the fibroid into the myometrium. The extra-parameters were: size of the fibroid, it topography, it extension of the base in relation the wall was set and the wall it was set. The fibroids were classified according to the Classification of the European Society for Gynaecological Endoscopy (ESGE) and to the new classification (STEP-W) in patients who were submitted to hysteroscopic resection of submucous fibroids. The possibility of total resection of the fibroid, the operating time, the fluid deficit and the frequency of any complications were considered. The Fisher test, the Student t test and the analysis of variance test were used in the statistical analyses. It was considered statistically significant when the p-value was less than 0.05 in the two-tailed test.Results: In group which the hysteroscopic surgery was considered complete there was no significant difference between the three ESGE levels (0, 1 and 2). Using the STEP-W, the difference between the numbers of complete surgeries was significant (p < 0.001) for the two levels (groups I and II). The difference between the operating times was significant for the two classifications. In relation to the fluid deficit, only the STEP-W showed significant differences between the levels (p=0.02).Conclusions: It seems to us that the new classification (STEP-W) gives more clues to the difficulties of a hysteroscopic myornectomy than the standard classification (ESGE).

An alternative technique to the harvesting of a connective tissue graft from a thin palate: Enhanced wound healing

This article describes an alternative surgical approach to the harvesting of subepithelial connective tissue grafts from thin palates. A partial-thickness flap is raised, and a graft composed of epithelium and connective tissue is removed from the palate. The superficial layer ( epithelium and a thin zone of connective tissue) is then dissected from the graft and replaced at the donor site to facilitate faster healing. The subjacent layer of connective tissue is placed as needed to obtain root coverage. The clinical application of this technique is described in two patients with multiple gingival recessions.

Clinical and histological evaluation of subepithelial connective tissue after collagen sponge implantation in the human palate

Rocha AL, Shirasu BK, Hayacibara RM, Magro-Filho O, Zanoni JN, Araujo MG. Clinical and histological evaluation of subepithelial connective tissue after collagen sponge implantation in the human palate. J Periodont Res 2012; 47: 758765. (c) 2012 John Wiley & Sons A/S Background and Objective: Successful root-coverage treatment depends on the thickness of the donor tissue. This study aimed to evaluate the thickness of donor tissue after augmentation of the connective tissue in the palatal area by implantation of lyophilized collagen sponge (Hemospon (R)). Material and Methods: Ten patients with an indication for root coverage, whose palate was deficient in adequate connective tissue, were recruited. The procedure was carried out in two stages. In the first stage, the palatal thickness in the donor site was measured at three standardized points (points 1, 2 and 3), from the distal of the canine to the distal of the first molar, and the lyophilized collagen sponge was inserted. In the second stage, the palatal thickness over the implant was measured (at points 1, 2 and 3), two biopsies of the palatal mucosa were collected one over the implant (experimental sample) and the other on the contralateral side (control sample) and then root-coverage treatment was performed. Analyses consisted of clinical assessment of the palatal measurements before and after sponge implantation, and histological assessment of the experimental and control biopsy samples. Data were analyzed using the Wilcoxon test. Results: Both analyses showed a significant increase in mean thickness, of 1.08 mm of neoformed tissue in the clinical analysis (the tissue at point 2 was the thickest of the three points) and of 0.53 mm in the histological analysis. Conclusion: The insertion of lyophilized collagen sponge induced a significant increase in the thickness of palatal connective tissue.