A new Late Devonian acanthodian fish from the Hunter Formation near Grenfell, New South Wales

The ischnacanthid acanthodian Grenfellacanthus zerinae gen. et sp. nov. is described on the basis of two large jaw bones from the Late Devonian (late Famennian) Hunter Formation, near Grenfell, N.S.W. The new species is the youngest known ischnacanthid, and the largest ischnacanthid from Gondwana. As for many ischnacanthids, the structure of the jaws and teeth indicate that Grenfellacanthus was probably an ambush predator.

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications

Familial hyperparathyroidism is not uncommon in clinical endocrine practice. It encompasses a spectrum of disorders including multiple endocrine neoplasia types 1 (MEN1) and 2A, hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH), and familial isolated hyperparathyroidism (FIHP). Distinguishing among the five syndromes is often difficult but has profound implications for the management of patient and family. The availability of specific genetic testing for four of the syndromes has improved diagnostic accuracy and simplified family monitoring in many cases but its current cost and limited accessibility require rationalisation of its use. No gene has yet been associated exclusively with FIHP. FIHP phenotypes have been associated with mutant MEN1 and calcium-sensing receptor ( CASR) genotypes and, very recently, with mutation in the newly identified HRPT2 gene. The relative proportions of these are not yet clear. We report results of MEN1, CASR, and HRPT2 genotyping of 22 unrelated subjects with FIHP phenotypes. We found 5 (23%) with MEN1 mutations, four (18%) with CASR mutations, and none with an HRPT2 mutation. All those with mutations had multiglandular hyperparathyroidism. Of the subjects with CASR mutations, none were of the typical FHH phenotype. These findings strongly favour a recommendation for MEN1 and CASR genotyping of patients with multiglandular FIHP, irrespective of urinary calcium excretion. However, it appears that HRPT2 genotyping should be reserved for cases in which other features of the HPT-JT phenotype have occurred in the kindred. Also apparent is the need for further investigation to identify additional genes associated with FIHP.

The Cotard syndrome. Report of two patients: with a review of the extended spectrum of 'délire des négations'

The Cotard syndrome is characterized by the delusion where an individual insists that he has died or part of his body has decayed. Although described classically in schizophrenia and bipolar disorder, physical disorders including migraine, tumour and trauma have also been associated with the syndrome. Two new cases are described here, the one associated with arteriovenous malformations and the other with probable multiple sclerosis. The delusion has been embarrassing to each patient. Study of such cases may have wider implications for the understanding of the psychotic interpretation of body image, for example that occurring in anorexia nervosa.

Maternal valproate dosage and foetal malformations

Objective - To study the possible dose dependence of the foetal malformation rate after exposure to sodium valproate in pregnancy Methods - Analysis of records of all foetuses in the Australian Registry of Antiepileptic Drugs in Pregnancy exposed to valproate, to carbamazepine, lamotrigine or phenytoin in the absence of valproate, and to no antiepileptic drugs. Results - The foetal malformation rate was higher (P < 0.05) in the 110 foetuses exposed to valproate alone (17.1%), and in the 165 exposed to valproate, whether alone or together with the other antiepileptic drugs (15.2%), than in the 297 exposed to the other drugs without valproate (2.4%). It was also higher (P < 0.10) than in the 40 not exposed to antiepileptic drugs (2.5%). Unlike the situation for the other drugs, the malformation rate in those exposed to valproate increased with increasing maternal drug dosage (P < 0.05). The rate was not altered by simultaneous exposure to the other drugs. Valproate doses exceeding 1400 mg per day seemed to be associated with a more steeply increasing malformation rate than at lower doses and with a different pattern of foetal malformations. Conclusion - Foetal exposure to valproate during pregnancy is associated with particularly high, and dose-dependent risks of malformation compared with other antiepileptic drugs, and may possibly involve different teratogenetic mechanisms.

Neonatal calyceal dilation and renal fibrosis resulting from loss of Adamts-1 in mouse kidney is due to a developmental dysgenesis

Background. A disintegrin and metalloproteinase with thrombospondin motifs 1, Adamts-1, is important for the development and function of the kidney. Mice lacking this protein present with renal lesions comprising enlarged calyces, and reduced cortex and medulla layers. Our current findings are consistent with the defect occurring due to a developmental dysgenesis. Methods. We generated Adamts-1 null mice, and further investigated their kidney phenotype in a time course study ranging from E18.5 to 12 months of age. Immunohistochemistry was used to assess the localization of type IV collagen, TGF-beta and F4/80-positive macrophages in the kidneys of Adcants-1 null mice compared to wild-type control animals. The expression of Adamts-1 mRNA was determined in metanephric kidney explants by in situ hybridization. Results. Adamts-1 null mice have a gross kidney defect. At day 18.5 of gestation, the Adcants-1 null kidney has a normal appearance but at birth when the kidney begins to function, the defect becomes evident. During development of the kidney Adamts-1 expression was specifically detected in the developing loops of Henle, as well as in the proximal and distal convoluted tubules. Expression was not detected in the ureter, ureteric bud or its derivatives as had been previously suggested. At 6 months and I year of age, the Adamts-1 null mice displayed interstitial fibrosis in the cortical and medullary regions of the kidney. At I year of age, the Adamts-1 null mice displayed mild interstitial matrix expansion associated with increased collagen type IV expression, without apparent tubular dilatation, compared to wild-type animals. Immunohistochemical analysis demonstrated TGF-beta protein localized to infiltrating macrophages and glomeruli of Adamts-1 null mice. Conclusions. Adamts-1 is required for the normal development of the kidney. The defect observed in its absence results from a dysgenic malformation affecting the medulla that becomes apparent at birth, once the kidneys start to function.

Should valproate be taken during pregnancy?

The Australian Registry of Antiepileptic Drug Use in Pregnancy includes 172 instances in which women took sodium valproate, with or without other antiepileptic drugs, during pregnancy. These pregnancies resulted in a substantially higher (p < 0.05) rate of malformed offspring (15.1%) compared with 348 pregnant women who took antiepileptic drugs other than valproate (2.3%) and 40 pregnancies in epileptic women who took no antiepileptic drugs (2.5%). At valproate doses of 1400 mg and below per day, the mean rate of pregnancies with fetal malformations was 6.42% and did not seem to be dose-dependent. At higher valproate doses, the mean rate of pregnancy with fetal malformation was 33.9% and appeared to increase with increasing drug dosage. This finding suggests the need for reappraisal of the use of valproate in women who may become pregnant or are pregnant whilst the drug is taken. The therapeutic policy adopted may depend on whether valproate doses below 1400 mg per day are regarded as safe for the fetus. This study indicates that the risk of malformation associated with such doses was just statistically significantly (p < 0.05) higher than that associated with other antiepileptic drugs. Various possible clinical scenarios are discussed.

Microstructure of Pharyngeal Tooth Enameloid in the Parrotfish Scarus rivulatus (Pisces:Scaridae)

The microstructure of parrotfish pharyngeal teeth was examined using scanning electron microscopy to infer possible mechanical properties of the dentition with respect to their function. Parrotfish tooth enameloid is formed from fluorapatite crystals grouped into bundles. In the upper and lower pharyngeal jaw, the majority of the crystal bundles are orientated either perpendicularly or vertically to the enameloid surface. The only exception is in the trailing apical enameloid in which the majority of bundles are orientated perpendicularly or horizontally to the trailing surface. A distinct transition occurs through the middle of the apex between the leading and trailing enameloid in teeth of the lower pharyngeal jaw. This transition appears less distinct in the teeth of the upper pharyngeal jaw. Enameloid microstructure indicates that shear forces predominate at the apex of the teeth. In the remainder of the enameloid, the microstructure indicates that wear is predominant, and the shear forces are of less importance.

Macrophage-specific expression of human lysosomal acid lipase corrects inflammation and pathogenic phenotypes in lal(-/-) mice

Lysosomal acid lipase (LAL) hydrolyzes cholesteryl esters and triglycerides to generate free fatty acids and cholesterol in the cell. The downstream metabolites of these compounds serve as hormonal ligands for nuclear receptors and transcription factors. Genetic ablation of the lal gene in the mouse caused malformation of macrophages and inflammation-triggered multiple pathogenic phenotypes in multiple organs. To assess the relationship between macro phages and lal(-/-) pathogenic phenotypes, a macrophage-specific doxycycline-inducible transgenic system was generated to induce human LAL (hLAL) expression in the lal(-/-) genetic background under control of the 7.2-kb c-fins promoter/intron2 regulatory sequence. Doxycycline-induced hLAL expression in macrophages significantly ameliorated aberrant gene expression, inflammatory cell (neutrophil) influx, and pathogenesis in multiple organs. These studies strongly support that neutral lipid metabolism in macrophages contributes to organ inflammation and pathogenesis.

The human genome and gene expression profiling

The mapping and sequencing of the human genome has generated a large resource for answering questions about human disease. This achievement is akin in scientific importance to developing the periodic table of elements. Plastic surgery has always been at the frontier medical research. This resource will help us to improve our understanding on the many unknown physiological and pathogical conditions we deal with daily, such as wound heating keloid scar formation, Dupuytren's disease, rheumatoid arthritis, vascular malformation and carcinogenesis. We are primed in obtaining both disease and normal tissues to use this resource and applying it to clinical use. This review is about the human genome, the basis of gene expression profiling and how it will affect our clinical and research practices in the future and for those embarking on the use of this new technology as a research tool, we provide a brief insight on its limitations and pitfalls. (C) 2006 The British Association of Plastic Surgeons. Published by Elsevier Ltd. All rights reserved.

Further evaluation of an EMG technique for assessment of the deep cervical flexor muscles

A novel surface electromyographic (EMG) technique was recently described for the detection of deep cervical flexor muscle activity. Further investigation of this technique is warranted to ensure EMG activity from neighbouring muscles is not markedly influencing the signals recorded. This study compared deep cervical flexor (DCF) muscle activity with the activity of surrounding neck and jaw muscles during various anatomical movements of the neck and jaw in 10 volunteer subjects. DCF EMG activity was recorded with custom electrodes inserted via the nose and fixed by suction to the posterior mucosa of the oropharynx. Surface electrodes were placed over the sternocleidomastoid, anterior scalene, masseter and suprahyoid muscles. Positioned in supine, subjects performed isometric cranio-cervical flexion, cervical flexion, right and left cervical rotation,jaw clench and resisted jaw opening. Across all movements examined, EMG amplitude of the DCF muscles was greatest during neck movements that would require activity of the DCF muscles, particularly during cranio-cervical flexion, their primary anatomical action. The actions of jaw clench and resisted jaw opening demonstrated significantly less DCF EMG activity than the cranio-cervical flexion action (p < 0.05). Across all other movements, the neighbouring neck and jaw muscles demonstrated greatest EMG amplitude during their respective primary anatomical actions, which occurred in the absence of increased EMG amplitude recorded from the DCF muscles. The finding of substantial EMG activity of the DCF muscles only during neck actions that would require their activity, particularly cranio-cervical flexion, and not during actions involving the jaw, provide further assurance that the majority of myoelectric signals detected from the nasopharyngeal electrode are from the DCF muscles. (C) 2005 Elsevier Ltd. All rights reserved.

Increased DNA Methylation at the AXIN1 Gene in a Monozygotic Twin from a Pair Discordant for a Caudal Duplication Anomaly

The AXIN1 gene has been implicated in caudal duplication anomalies. Its coding region was sequenced in both members of a monozygotic ( MZ) twin pair discordant for a caudal duplication anomaly, but no mutation was found. Using bisulfite sequencing, we examined methylation at the promoter region of the AXIN1 gene in these twins and in twin and age-matched singleton controls. Methylation of the promoter region in peripheral blood mononucleated cells was variable among individuals, including MZ pairs. In the MZ pair discordant for the caudal duplication, this region of the affected twin was significantly more methylated than that of the unaffected twin (), which was significantly more P < .0001 methylated than those of the controls (). We have confirmed that this CpG island does function as a promoter P = .02 in vitro and that its activity is inversely proportional to the extent of methylation. This finding raises the possibility that hypermethylation of the AXIN1 promoter, by mechanisms as yet undetermined, is associated with the malformation. This case may be paradigmatic for some cases of MZ discordance.

Inferring parrotfish (Teleostei : Scaridae) pharyngeal mill function from dental morphology, wear, and microstructure

Morphology, occlusal surface topography, macrowear, and microwear features of parrotfish pharyngeal teeth were investigated to relate microstructural characteristics to the function of the pharyngeal mill using scanning electron microscopy of whole and sectioned pharyngeal jaws and teeth. Pharyngeal tooth migration is anterior in the lower jaw (fifth ceratobranchial) and posterior in the upper jaw (paired third pharyngobranchials), making the interaction of occlusal surfaces and wear-generating forces complex. The extent of wear can be used to define three regions through which teeth migrate: a region containing newly erupted teeth showing little or no wear; a midregion in which the apical enameloid is swiftly worn; and a region containing teeth with only basal enameloid remaining, which shows low to moderate wear. The shape of the occlusal surface alters as the teeth progress along the pharyngeal jaw, generating conditions that appear suited to the reduction of coral particles. It is likely that the interaction between these particles and algal cells during the process of the rendering of the former is responsible for the rupture of the latter, with the consequent liberation of cell contents from which parrotfish obtain their nutrients.

Microvertebrate assemblages from the Upper Silurian of Cornwallis Island, Arctic Canada

Microvertebrate assemblages from four Upper Silurian (?Ludlow-Pridoli) localities on Cornwallis Island, Arctic Canada, comprise mainly scales, plus dentition cones and jaw fragments from ischnacanthid acanthodians, with rare scales assigned to heterostracan Lepidaspis? sp., ?chondrichthyan Arauzia? sp., and Placodermi? gen. et sp. indet. Most of the scales in sample C-11460 are assigned to the poracanthodid acanthodian Poracanthodes canadensis sp.nov., which shows closest affinity to Poracanthodes punctatus Brotzen variants from the Baltic Pridoli. The flank scales of the new species resemble those of P. punctatus s.s. (Silurian variant; the zone fossil for the late Pridoli in the Standard Silurian microvertebrate scheme), with their superposed crown growth zones, rows of small pores aligned with the underlying zones, number of radial canals, and arcade canals connecting these radial canals. They differ in having numerous anterior crown riblets, zig-zag rather than straight crown pore rows, and V-shaped arcade canals.

EFEITOS ESQUELÉTICOS DA TRAÇÃO REVERSA DA MAXILA UTILIZANDO TOMOGRAFIA COMPUTADORIZADA

Este estudo avaliou os efeitos esqueléticos da tração reversa da maxila utilizando imagens 2D (telerradiografia lateral) geradas a partir da tomografia de feixe cônico (imagens 3D). A amostra foi composta por 20 crianças (15 do gênero feminino, e 5 do masculino), com idade variando de 5,6 a 10,7 anos que apresentavam má-oclusão de Classe III de Angle. A tomografia foi realizada antes do tratamento (T1) e logo após o tratamento (T2). O tratamento foi realizado por meio da tração reversa da maxila utilizando-se o aparelho expansor Hyrax associado à máscara facial individualizada, com força de 600 a 800g de cada lado, durante 14 horas por dia. A correção da relação de caninos em Classe I ou com sua sobrecorreção em Classe II foi obtida após 4 a 8 meses de tratamento. Para verificar o erro sistemático e casual foi utilizado o teste t pareado e a fórmula de Dahlberg, respectivamente. O teste t pareado (p<0,05) mostrou diferença significante entre as medidas cefalométricas obtidas em T1 e T2. Na maxila houve aumento do SNA 2,2°, A-Nperp 1,47mm e em Co-A 2,58mm. Na mandíbula, SNB diminuiu -0,54° e P-Nperp, -1,45mm, enquanto Co-Gn aumentou 1,04mm. Houve melhora na relação maxilo-mandibular ANB 2,74° e Wits 4,23mm. As variáveis GoGn.SN, Gn.SN, FH.Md, Mx.Md, e AFAI aumentaram demonstrando que houve uma rotação da mandíbula no sentido horário. O plano palatino rotacionou no sentido anti-horário. Pode se concluir que o tratamento de tração reversa da maxila na idade precoce promoveu uma melhora na relação maxilo-mandibular devido a um avanço da maxila e um deslocamento da mandíbula para baixo e para trás.

OSTEOTOMIA SEGMENTAR DE MAXILA CASO CLÍNICO

A Osteotomia Segmentar de Maxila ou Osteotomia Le Fort I Segmentada é um procedimento que tem se tornado, cada vez mais comum, nas cirugias para as correções das deformidades dentofaciais, conhecidas como Cirurgias Ortognáticas. Este procedimento é muito bem indicado para a correção das discrepâncias maxilares, nos diferentes planos e num único tempo cirúrgico, otimizando assim, o tempo de tratamento a que o paciente é submetido. A estabilidade esquelética transversal e a oclusal dos pacientes, que são submetidos a este tipo de osteotomia, tem sido objeto de estudo na literatura , assim como também, os potenciais riscos e complicações inerentes a este procedimento como, a desvitalização dentária, fístula oro-nasal, perda dentária, necrose de algum segmento da maxila ou até mesmo, de toda a maxila. O objetivo deste trabalho é apresentar o caso clínico de um paciente submetido à osteotomia segmentar de maxila, e fazer uma revisão da literatura abrangendo os últimos 10 anos, com artigos que abordam a estabilidade deste tipo de procedimento, assim como também os potenciais riscos e complicações aos pacientes submetidos a este procedimento. Utilizando algumas palavras chave na base de dados eletrônica PUBMED, 12 artigos foram selecionados para este trabalho, no período de 2002 a 2012. A Osteotomia Segmentar de Maxila é um procedimento estável e seguro, com baixo índice de complicação, quando indicado corretamente e com os devidos cuidados no pré, trans e pós operatórios.