bluuebunny/crossref_metadata_2025 huggingface dataset:
A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export
Authors: Zhang Chen , Milunsky Jeff M. , Newton Stephanie , Ko Jaewon , Zhao Geping , Maher Tom A. , Tager-Flusberg Helen , Bolliger Marc F. , Carter Alice S. , Boucard Antony A. , Powell Craig M. , Südhof Thomas C.
Published: September 2009

Neuroligins (NLs) are postsynaptic cell-adhesion molecules essential for normal synapse function. Mutations in neuroligin-4 (NL4) (gene symbol:NLGN4) have been reported in some patients with autism spectrum disorder (ASD) and other neurodevelopmental impairments. However, the low frequency of NL4 mutations and the limited information about the affected patients and the functional consequences of their mutations cast doubt on the causal role of NL4 mutations in these disorders. Here, we describe two brothers with classical ASD who carry a single amino-acid substitution in NL4 (R87W). This substitution was absent from the brothers' asymptomatic parents, suggesting that it arose in the maternal germ line. R87 is conserved in all NL isoforms, and the R87W substitution is not observed in control individuals. At the protein level, the R87W substitution impaired glycosylation processing of NL4 expressed in HEK293 and COS cells, destabilized NL4, caused NL4 retention in the endoplasmic reticulum in non-neuronal cells and neurons, and blocked NL4 transport to the cell surface. As a result, the R87W substitution inactivated the synapse-formation activity of NL4 and abolished the functional effect of NL4 on synapse strength. Viewed together, these observations suggest that a point mutation in NL4 can cause ASD by a loss-of-function mechanism.
Right Ventromedial and Dorsolateral Prefrontal Cortices Mediate Adaptive Decisions under Ambiguity by Integrating Choice Utility and Outcome Evaluation
Authors: Christakou Anastasia , Brammer Mick , Giampietro Vincent , Rubia Katya
Published: September 2009

The Iowa gambling task (IGT) is one of the most influential behavioral paradigms in reward-related decision making and has been, most notably, associated with ventromedial prefrontal cortex function. However, performance in the IGT relies on a complex set of cognitive subprocesses, in particular integrating information about the outcome of choices into a continuously updated decision strategy under ambiguous conditions. The complexity of the task has made it difficult for neuroimaging studies to disentangle the underlying neurocognitive processes. In this study, we used functional magnetic resonance imaging in combination with a novel adaptation of the task, which allowed us to examine separately activation associated with the moment of decision or the evaluation of decision outcomes. Importantly, using whole-brain regression analyses with individual performance, in combination with the choice/outcome history of individual subjects, we aimed to identify the neural overlap between areas that are involved in the evaluation of outcomes and in the progressive discrimination of the relative value of available choice options, thus mapping the two fundamental cognitive processes that lead to adaptive decision making. We show that activation in right ventromedial and dorsolateral prefrontal cortex was predictive of adaptive performance, in both discriminating disadvantageous from advantageous decisions and confirming negative decision outcomes. We propose that these two prefrontal areas mediate shifting away from disadvantageous choices through their sensitivity to accumulating negative outcomes. These findings provide functional evidence of the underlying processes by which these prefrontal subregions drive adaptive choice in the task, namely through contingency-sensitive outcome evaluation.
Loss of Dendritic HCN1 Subunits Enhances Cortical Excitability and Epileptogenesis
Authors: Huang Zhuo , Walker Matthew C. , Shah Mala M.
Published: September 2009

Hyperpolarization-activated cation nonselective 1 (HCN1) plasticity in entorhinal cortical (EC) and hippocampal pyramidal cell dendrites is a salient feature of temporal lobe epilepsy. However, the significance remains undetermined. We demonstrate that adult HCN1 null mice are more susceptible to kainic acid-induced seizures. After termination of these with an anticonvulsant, the mice also developed spontaneous behavioral seizures at a significantly more rapid rate than their wild-type littermates. This greater seizure susceptibility was accompanied by increased spontaneous activity inHCN1−/−EC layer III neurons. DendriticIhin these neurons was ablated, too. Consequentially,HCN1−/−dendrites were more excitable, despite having significantly more hyperpolarized resting membrane potentials (RMPs). In addition, the integration of EPSPs was enhanced considerably such that, at normal RMP, a 50 Hz train of EPSPs produced action potentials inHCN1−/−neurons. As a result of this enhanced pyramidal cell excitability, spontaneous EPSC frequency ontoHCN1−/−neurons was considerably greater than that onto wild types, causing an imbalance between normal excitatory and inhibitory synaptic activity. These results suggest that dendritic HCN channels are likely to play a critical role in regulating cortical pyramidal cell excitability. Furthermore, these findings suggest that the reduction in dendritic HCN1 subunit expression during epileptogenesis is likely to facilitate the disorder.
Neurofilaments Bind Tubulin and Modulate Its Polymerization
Authors: Bocquet Arnaud , Berges Raphael , Frank Ronald , Robert Patrick , Peterson Alan C. , Eyer Joël
Published: September 2009

Neurofilaments assemble from three intermediate-filament proteins, contribute to the radial growth of axons, and are exceptionally stable. Microtubules are dynamic structures that assemble from tubulin dimers to support intracellular transport of molecules and organelles. We show here that neurofilaments, and other intermediate-filament proteins, contain motifs in their N-terminal domains that bind unassembled tubulin. Peptides containing such motifs inhibit thein vitropolymerization of microtubules and can be taken up by cultured cells in which they disrupt microtubules leading to altered cell shapes and an arrest of division. In transgenic mice in which neurofilaments are withheld from the axonal compartment, axonal tubulin accumulation is normal but microtubules assemble in excessive numbers. These observations suggest a model in which axonal neurofilaments modulate local microtubule assembly. This capacity also suggests novel mechanisms through which inherited or acquired disruptions in intermediate filaments might contribute to pathogenesis in multiple conditions.
Internally Mediated Developmental Desynchronization of Neocortical Network Activity
Authors: Golshani Peyman , Gonçalves J. Tiago , Khoshkhoo Sattar , Mostany Ricardo , Smirnakis Stelios , Portera-Cailliau Carlos
Published: September 2009

During neocortical development, neurons exhibit highly synchronized patterns of spontaneous activity, with correlated bursts of action potential firing dominating network activity. This early activity is eventually replaced by more sparse and decorrelated firing of cortical neurons, which modeling studies predict is a network state that is better suited for efficient neural coding. The precise time course and mechanisms of this crucial transition in cortical network activity have not been characterizedin vivo. We usedin vivotwo-photon calcium imaging in combination with whole-cell recordings in both unanesthetized and anesthetized mice to monitor how spontaneous activity patterns in ensembles of layer 2/3 neurons of barrel cortex mature during postnatal development. We find that, as early as postnatal day 4, activity is highly synchronous within local clusters of neurons. At the end of the second postnatal week, neocortical networks undergo a transition to a much more desynchronized state that lacks a clear spatial structure. Strikingly, deprivation of sensory input from the periphery had no effect on the time course of this transition. Therefore, developmental desynchronization of spontaneous neuronal activity is a fundamental network transition in the neocortex that appears to be intrinsically generated.
An Isoform-Specific Mutant Reveals a Role of PDP1ε in the Circadian Oscillator
Authors: Zheng Xiangzhong , Koh Kyunghee , Sowcik Mallory , Smith Corinne J. , Chen Dechun , Wu Mark N. , Sehgal Amita
Published: September 2009

TheDrosophila PAR domain protein 1(Pdp1) gene encodes a transcription factor with multiple functions. One isoform, PDP1ε, was proposed to be an essential activator of the core clock gene,Clock(Clk). However, a central clock function for PDP1ε was recently disputed, and genetic analysis has been difficult due to developmental lethality ofPdp1-null mutants. Here we report the discovery of a mutation that specifically disrupts thePdp1ε isoform. HomozygousPdp1ε mutants are viable and exhibit arrhythmic circadian behavior in constant darkness and also in the presence of light:dark cycles. Importantly, the mutants show diminished expression of CLK and PERIOD (PER) in the central clock cells. In addition, expression of PDF (pigment-dispersing factor) is reduced in a subset of the central clock cells. Loss ofPdp1ε also alters the phosphorylation status of the CLK protein and disrupts cyclic expression of aper-luciferase reporter in peripheral clocks under free-running conditions. Transgenic expression of PDP1ε in clock neurons ofPdp1ε mutants can restore rhythmic circadian behavior. However, transgenic expression of CLK in these mutants rescues the expression of PER in the central clock, but fails to restore behavioral rhythms, suggesting that PDP1ε has effects outside the core molecular clock. Together, these data support a model in which PDP1ε functions in the central circadian oscillator as well as in the output pathway.
Robust Pacemaking in Substantia Nigra Dopaminergic Neurons
Authors: Guzman Jaime N. , Sánchez-Padilla Javier , Chan C. Savio , Surmeier D. James
Published: September 2009

Dopaminergic neurons of the substantia nigra pars compacta are autonomous pacemakers. This activity is responsible for the sustained release of dopamine necessary for the proper functioning of target structures, such as the striatum. Somatodendritic L-type Ca2+channels have long been viewed as important, if not necessary, for this activity. The studies reported here challenge this viewpoint. Using a combination of optical and electrophysiological approaches in brain slices, it was found that antagonism of L-type Ca2+channel effectively stopped dendritic Ca2+oscillations but left autonomous pacemaking unchanged. Moreover, damping intracellular Ca2+oscillations with exogenous buffer had little effect on pacemaking rate. Although not necessary for pacemaking, L-type channels helped support pacemaking when challenged with cationic channel blockers. Simulations suggested that the insensitivity to antagonism of L-type channels reflected the multichannel nature of the pacemaking process. The robustness of pacemaking underscores its biological importance and provides a framework for understanding how therapeutics targeting L-type Ca2+channels might protect dopaminergic neurons in Parkinson's disease without compromising their function.
NGF Is Essential for Hippocampal Plasticity and Learning
Authors: Conner James M. , Franks Kevin M. , Titterness Andrea K. , Russell Kyle , Merrill David A. , Christie Brian R. , Sejnowski Terrence J. , Tuszynski Mark H.
Published: September 2009

Nerve growth factor (NGF) is produced in the hippocampus throughout life and is retrogradely trafficked to septal cholinergic neurons, providing a potential mechanism for modulating cholinergic inputs and, thereby, hippocampal plasticity. To explore NGF modulation of hippocampal plasticity and function, NGF levels were augmented or blocked in intact adult rats, and subsequentin vivoeffects on cholinergic neurons, hippocampal long-term potentiation (LTP), and learning were examined. NGF augmentation significantly enhanced cholinergic neuronal markers and facilitated induction of hippocampal LTP. Blockade of endogenous NGF significantly reduced hippocampal LTP and impaired retention of spatial memory. These findings reveal an essential role for NGF in regulating biological mechanisms related to plasticity and memory in the intact adult brain.
Motor Unit Recruitment Strategies Are Altered during Deep-Tissue Pain
Authors: Tucker Kylie , Butler Jane , Graven-Nielsen Thomas , Riek Stephan , Hodges Paul
Published: September 2009

Muscle pain is associated with decreased motor unit discharge rate during constant force contractions. As discharge rate is a determinant of force, other adaptations in strategy must explain force maintenance during pain. Our aim was to determine whether motor unit recruitment strategies are altered during pain to maintain force despite reduced discharge rate. Motor unit discharge behavior was recorded in two muscles, one with (quadriceps) and one without [flexor pollicis longus (FPL)] synergists. Motor units were recruited during matched low-force contractions with and without experimentally induced pain, and at higher force without pain. A total of 52 and 34 units were recorded in quadriceps and FPL, respectively, during low-force contractions with and without pain. Of these, 20 quadriceps and 9 FPL units were identified during both trials. The discharge rate of these units reduced during pain in both muscles [quadriceps: 8.7 (1.5) to 7.5 (1.3) Hz,p< 0.001; FPL: 11.9 (1.5) to 10.0 (1.7) Hz,p< 0.001]. All remaining units discharged only with or without pain, but not in both conditions. Only one-third of the additional units recruited during pain (quadricepsn= 7/19, FPLn= 3/15) were those expected given orderly recruitment of the motor unit pool as determined during higher-force contractions. We conclude that reduced motor unit discharge rate with pain is accompanied by changes in the population of units used to maintain force. The recruitment of new units is partly inconsistent with generalized inhibition of the motoneuron pool predicted by the “pain adaptation” theory, and provides the basis for a new mechanism of motor adaptation with pain.
Rohmer's Salon
Authors: Bersani Leo , Dutoit Ulysse
Published: September 2009

Eric Rohmer's films are repeatedly concerned with love affairs and matchmaking schemes, and they feature social occasions during which much of the talk concerns intimacy and romance. However, according to Leo Bersani and Ulysse Dutoit, they also explore alternatives to such eroticism and such conversation—especially strange and nonsexual connections between characters and their environment.
Imamura Revisited
Authors: Richie Donald
Published: September 2009

A review essay of a boxed set of films by Shohei Imamura—Pigs and Battleships (1961), The Insect Woman (1963), Intentions of Murder (1964)—exploring the Japanese director's teeming, demystifying view of social convention, women, and sex.
Bulldozers, Bibles, and Very Sharp Knives: The Chinese Independent Documentary Scene
Authors: Nornes Abé Mark
Published: September 2009

A report on the state of independent documentary filmmaking in China in 2009, covering in particular the Yunnan Multicultural Visual Festival (or Yunfest, as it is known) in Kunming and the China Documentary Film Festival in Songzhuang. A variety of factors have converged to make an anti-authoritarian documentary movement possible, but it may be ending as directors become professionalized.
Pseudo-Quintilian's Major Declamations: Beyond School and Literature
Authors: Breij Bé
Published: September 2009

Outre exercice rhétorique et genre littéraire en soi, la déclamation a une troisième fonction, que l'on pourrait intituler “situational ethics”: le déclamateur doit se mettre dans la peau d'un caractère et répondre aux problèmes éthiques qui se posent pour ce caractère. Dans cette contribution il est montré, au moyen de la notion pietas, comment ces trois fonctions se présentent ensemble dans les Declamationes maiores.
Ellipsoid Analysis of Calvarial Shape
Authors: Jacobsen Petra A. , Becker Devra , Govier Daniel P. , Krantz Steven G. , Kane Alex
Published: September 2009

Purpose:

The purpose of this research was to develop a novel quantitative method of describing calvarial shape by using ellipsoid geometry. The pilot application of Ellipsoid Analysis was to compare calvarial form among individuals with untreated unilateral coronal synostosis, metopic synostosis, and sagittal synostosis and normal subjects.

Methods:

The frontal, parietal, and occipital bones of 10 preoperative patients for each of the four study groups were bilaterally segmented into six regions using three-dimensional skull reconstructions generated by ANALYZE™ imaging software from high-resolution computed tomography scans. Points along each segment were extracted and manipulated using a MATLAB®-based program. The points were fit to the least-squares nearest ellipsoid. Relationships between the six resultant right and left frontal, parietal, and occipital ellipsoidal centroids (FR, FL, PR, PL, OR, and OL, respectively) were tested for association with a synostotic group.

Results:

Results from the pilot study showed meaningful differences between length ratio, angular, and centroid distance relationships among synostotic groups. The most substantial difference was exhibited in the centroid distance PL-PR between patients with sagittal synostosis and metopic synostosis. The measures most commonly significant were centroid distances FL-PR and FL-PL and the angle OR-FR-PR. Derived centroid relationships were reproducible.

Conclusion:

Ellipsoid Analysis may offer a more refined approach to quantitative analysis of cranial shape. Symmetric and asymmetric forms can be compared directly. Relevant shape information between traditional landmarks is characterized. These techniques may have wider applicability in quantifying craniofacial morphology with increase in both specificity and general applicability over current methods.
Cleft Palate in a Rare Case of Variant Klinefelter Syndrome with 48,XXXY/46,XY Mosaicism
Authors: Hur Mina , Cho Hyoun Chan , Lee Kyu Man , Park Hyokhan , Lee So Yeon , Kim Kwang Nam , Kim Sun Hee , Ki Chang Suk
Published: September 2009

Variant Klinefelter syndrome with 48,XXXY/46,XY mosaicism has been rarely reported, and its phenotypic features, compared with those of the classic type, have not been well delineated. We describe a newborn baby with phenotypic abnormalities, including cleft palate and low-set ears. The cytogenetic analysis of peripheral blood lymphocytes showed a karyotype of 48,XXXY[36]/46,XY[4]. To the best of our knowledge, this is the first case in which 48,XXXY/46,XY mosaicism was related to the congenital anomaly of cleft palate. This case underscores that cytogenetic analysis should be a mandatory workup for the patient with cleft palate and that cleft palate may be a rare clinical presentation of the variant Klinefelter syndrome.
Comparison of Dental Caries Prevalence in Patients with Cleft Lip and/or Palate and Their Sibling Controls
Authors: Al-Dajani Mahmoud
Published: September 2009

Objective:

To evaluate the prevalence of dental caries in patients with cleft lip and/or palate and their cleft-free sibling controls.

Methods:

The two subject groups (patient and control) comprised 106 participants. The former group consisted of 53 patients with cleft lip and/or palate, aged 12 to 29 years, who visited the Oral and Maxillofacial Surgery Hospital at Damascus University of Syria. The control group consisted of the patients’ siblings who had no clefts, and they were sex matched to the patient group. Dental caries were examined clinically and were reported using the decayed, missing, and filled permanent teeth (DMFT) index. The DMFT scores were compared between the two groups.

Results:

The author found an overall association of dental caries with the presence of cleft lip and/or palate (odds ratio  =  2.52; 95% confidence interval  =  1.389–4.574; p < .05). The DMFT index scores were proportionally higher in patients with cleft lip and/or palate compared with the control group (p < .001).

Conclusion:

Subjects with cleft lip and palate are susceptible to dental caries independently of socioeconomic status.
Vertical and Sagittal Growth in Patients with Unilateral and Bilateral Cleft Lip and Palate—A Retrospective Cephalometric Evaluation
Authors: Holst Alexandra I. , Holst Stefan , Nkenke Emeka , Fenner Matthias , Hirschfelder Ursula
Published: September 2009

Objective:

To investigate whether the craniofacial vertical and sagittal jaw relationship in patients with cleft lip and palate (CLP) differed from that of age-matched noncleft controls, before and after the pubertal growth spurt.

Design:

Retrospective observational study.

Patients:

The study group comprised 126 patients with CLP, subdivided according to gender and cleft type, and the control group comprised 53 age-matched skeletal class I patients.

Methods:

Angular and linear measurements were taken from prepubertal and postpubertal lateral cephalograms of all patients.

Results:

In patients with cleft lip and palate, the maxillary retrognathism became more remarkable with increasing age; whereas, the retrognathic position of the mandible became less pronounced as compared with controls. Reduced posterior midfacial height, a common prepubertal finding in patients with cleft lip and palate, was significant in postpubertal girls and young women with unilateral cleft lip and palate (p  =  .002). The total anterior facial height in male patients with bilateral cleft lip and palate was larger than in control patients (p  =  .002) after the pubertal growth spurt due to an increased anterior midfacial height. In male patients with unilateral cleft lip and palate, this finding was due to an increased anterior lower facial height (p < .001).

Conclusions:

Patients with cleft lip and palate treated according to a standardized treatment concept had adequate craniofacial jaw relationships after puberty. Despite a measured skeletal class I in both male and female patients with cleft lip and palate regardless of cleft type, there was a slight tendency toward a skeletal class III. Findings were similar for all groups of cleft lip and palate patients irrespective of the type of orthodontic treatment performed.
Chronic Suppurative Otitis Media in Cleft Palate: Microorganism Etiology and Susceptibilities
Authors: Weckwerth Paulo Henrique , de Magalhães Lopes Carlos Alberto , Duarte Marco Antonio Húngaro , Weckwerth Ana Carolina Villas Bôas , Martins Carlos Henrique Ferreira , Neto Domingos Lamônica , de Aguiar Helder Fernandes
Published: September 2009

Objective:

To investigate the microbial etiology of suppurative chronic otitis media (SCOM) in patients with complete cleft lip and palate and isolated cleft palate and to determine the sensitivity of isolated microorganisms to antibiotics by drug diffusion from impregnated discs in agar and the minimum inhibitory concentration of each drug to these microorganisms by drug dilution in agar.

Design/Patients:

Effusion samples of SCOM obtained from 40 patients with cleft lip and palate registered at the Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, at Bauru, Brazil, were bacteriologically analyzed by cultures. The isolated bacteria were submitted to an in vitro susceptibility test to clinically used drugs.

Results:

Positive cultures were obtained in 100% of studied cases. Among the 57 strains observed, the most frequent were Pseudomonas aeruginosa (35%), Staphylococcus aureus (15.5%), Enterococcus faecalis (14%), and Proteus mirabilis (12%). The frequency of Gram-negative bacilli (enterobacteriaceae and nonfermentative bacilli) was 67%. Pseudomonas aeruginosa presented the highest sensitivity to ciprofloxacin, and enterobacteriaceae exhibited the highest sensitivity to gentamicin. The strains of S. aureus and E. faecalis presented the highest sensitivity to imipenem and sulfamethoxazole/trimethoprim, respectively.

Conclusion:

Patients with cleft lip and palate presenting with SCOM exhibited 100% positive cultures, with the highest frequency of Pseudomonas and enterobacteriaceae. With regard to the action of antibiotics, imipenem was effective against the four species of isolated microorganisms, followed by ciprofloxacin, which was effective against 75% of isolated species.
When My Child Was Born: Cross-Cultural Reactions to the Birth of a Child with Cleft Lip and/or Palate
Authors: Black Jonathan D. , Girotto John A. , Chapman Karina E. , Oppenheimer Adam J.
Published: September 2009

Objective:

To compare across cultures the maternal reactions toward the birth of children with cleft lip and/or palate.

Design:

An adaptation of When My Child Was Born, a Likert-type scale designed to assess reactions to the birth of a child, was used to survey the target populations.

Setting:

The surveys were administered between February 2006 and February 2008 at four hospitals: the Faculty of Medicine Hospital, Chiang Mai, Thailand; Sappasitprasong Hospital, Ubon Ratchathani, Thailand; the No. 5 Affiliated Hospital to Xinjiang Medical College, Urumqi, China; and Santa Monica Hospital, Pereira, Colombia.

Participants:

Thai (n  =  22), Chinese (n  =  25), Uygur (n  =  15), and Colombian (n  =  36) biological mothers completed the survey. A historical cohort of American mothers (n  =  99) was used for comparison.

Main Outcome Measure(s):

The primary study outcome measure was the mean maternal affect score, which was calculated from the individual responses of study participants.

Results:

The mean maternal affect scores for the Thai, Chinese, Uygur, and Colombian mothers were 3.68 ± 0.38, 2.97 ± 0.52, 3.40 ± 0.47, and 3.51 ± 0.61, respectively. The American cohort score was 3.44 ± 0.67. Analysis of variance testing indicated that these groups were not equal (p < .0001). There were statistically significant differences between groups (p < .05).

Conclusions:

Maternal reactions to the birth of cleft children are different across cultures. These differences must be considered when administering care on international surgical missions.
The Need for Orthognathic Surgery in Patients with Repaired Complete Unilateral and Complete Bilateral Cleft Lip and Palate
Authors: Daskalogiannakis John , Mehta Manisha
Published: September 2009

Objective:

To determine the percentage of patients with complete unilateral cleft lip and palate and complete bilateral cleft lip and palate treated at SickKids since birth who would benefit from orthognathic surgery.

Design:

Retrospective cohort study.

Subjects:

The review comprised records of 258 patients with complete unilateral cleft lip and palate and 149 patients with complete bilateral cleft lip and palate born from 1960 to 1989. Of these, 211 and 129 patients, respectively, had been treated at SickKids since birth. Patients with syndromes or associated anomalies were excluded.

Methods:

Patients who had undergone orthognathic surgery were recorded. For the remaining patients, arbitrarily set cephalometric criteria were used in order to identify the “objective” need for surgery. Lateral cephalometric radiographs taken beyond the age of 15 years were digitized using Dentofacial Planner cephalometric software.

Results:

Of the 211 patients with complete unilateral cleft lip and palate, 102 (48.3%) were deemed to benefit from orthognathic surgery. For the complete bilateral cleft lip and palate sample, the percentage was 65.1% (84 of 129). Definitive information on presurgical orthopedics was available for a small subsample (101 patients) of the complete unilateral cleft lip and palate cohort. The need for orthognathic surgery for this group was slightly higher (59.4%, or 60 of 101).

Conclusion:

These results suggest that a considerable percentage of patients with a history of complete cleft lip and palate at our institution require orthognathic surgery. Factors that need to be considered in the interpretation of these results include the quest for improvement in the profile aesthetics; the fact that the Canadian health care system covers the costs of surgery, making it more accessible to the patients; and the inclusion in the above figures of patients who had orthognathic surgery solely for reasons of closure of previously ungrafted alveolar clefts and associated fistulae.
Coding Region of IRF6 Gene May Not Be Causal for Van Der Woude Syndrome in Cases from India
Authors: Ali Akhtar , Singh Subodh Kumar , Raman Rajiva
Published: September 2009

Objective:

Evaluation of the IRF6 gene in Van der Woude syndrome cases from an Indian population.

Subjects:

Nine affected and four unaffected individuals from seven families with Van der Woude syndrome as well as five normal controls (with no history of Van der Woude or any other congenital malformation and belonging to the same geographical area as the families with Van der Woude syndrome).

Method:

Direct sequencing of all coding regions and exon-intron boundaries of the IRF6 gene.

Results:

Five novel variants: IVS1+3900 A>G, 191 T>C, IVS4+775 C>T, IVS8+218 C>T, 1511 T>A (Ser 416 Arg) and two known variants: IVS6+27 C>G, 1083 G>A (V274I) were detected. Except for one, all were in noncoding regions either in 3′UTR or in introns. There was only one mutation in the coding region, detected in a normal control.

Conclusion:

The present report indicates that point mutations in the coding region of the IRF6 gene may not be a major cause of Van der Woude syndrome in Indian populations.
Development of the human adrenal zona reticularis: morphometric and immunohistochemical studies from birth to adolescence
Authors: Hui Xiao-Gang , Akahira Jun-ichi , Suzuki Takashi , Nio Masaki , Nakamura Yasuhiro , Suzuki Hiroyoshi , Rainey William E , Sasano Hironobu
Published: September 2009

Age-related morphologic development of human adrenal zona reticularis (ZR) has not been well examined. Therefore, in this study, 44 human young adrenal autopsy specimens retrieved from large archival files (n=252) were examined for immunohistochemical and morphometric analyses. Results demonstrated that ZR became discernible around 4 years of age, and both thickness and ratio per total cortex of ZR increased in an age-dependent fashion thereafter, although there was no significant increment in total thickness of developing adrenal cortex. We further evaluated immunoreactivity of both KI67 and BCL2 in order to clarify the equilibrium between cell proliferation and apoptosis in the homeostasis of developing human adrenals. Results demonstrated that proliferative adrenocortical cells were predominantly detected in the zona glomerulosa and partly in outer zona fasciculata (ZF) before 4 years of age and in ZR after 4 years of age, but the number of these cells markedly decreased around 20 years of age. The number of BCL2-positive cells increased in ZR and decreased in ZF during development. Adrenal androgen synthesizing type 5 17β-hydroxysteroid dehydrogenase (HSD17B5 or AKR1C3 as listed in the Hugo Database) was almost confined to ZR of human adrenals throughout development. HSD17B5 immunoreactivity in ZR became discernible and increased from around 9 years of age. Results of our present study support the theory of age-dependent adrenocortical cell migration and also indicated that ZR development is not only associated with adrenarche, but may play important roles in an initiation of puberty.
A possible relationship between brain-derived adrenomedullin and oxytocin in the regulation of sodium balance
Authors: White Meghan M , Samson Willis K
Published: September 2009

Exaggerated thirst and salt appetite occurs when endogenous, brain-derived adrenomedullin (AM) production is compromised. In addition, the arginine vasopressin (AVP) response to hypovolemia is compromised. We hypothesized that AM acts in the hypothalamus to control oxytocin (OT) release and that the inhibitory action of AM on salt appetite is mediated via its effects on OT release in the rat. When plasma tonicity was elevated with sodium, ribozyme-induced compromise of central AM production significantly blunted the release of OT into plasma. OT responses to elevation of plasma osmolality without concomitant change in plasma sodium levels were not altered by compromise of AM production. Thus, brain-derived AM controls OT release in response to altered plasma sodium levels. Furthermore, central AM-induced inhibition of NaCl intake can be reversed by pretreatment with an OT antagonist, and the increase in NaCl appetite seen following ribozyme compromise of central AM can be attenuated with central OT administration. These data support the hypothesis that endogenous, brain-derived AM is an essential participant in the hypothalamic response to hypernatremia via its actions on OT-expressing neurons. Together with our previous reports of the effects of AM on AVP secretion and ingestive behaviors, our results suggest that endogenous AM is a physiologically relevant regulator of the endocrine and behavioral mechanisms that maintain fluid and electrolyte homeostasis.
Palaeobiogeography of the Late Cretaceous to Paleogene larger Miliolids from tropical to subtropical sea belts (Neotethys to Caribbean)
Authors: Drobne Katica , Ćosović Vlasta
Published: September 2009

Paleobiogeographic distribution within the larger, trematophore miliolids was evaluated using presence/absence (Parsimony Analysis) patterns and distributional extension of 7 genera and 47 species from the Coniacian to the Oligocene. The oldest group of larger miliolids (from late Cretaceous), represented by four parallel genera (Periloculina, Lacazina, Pseudolacazina, Idalina) from the southern Pyrenean province exhibits an endemic character. Later periods of the Senonian with uniform distribution of miliolids over the shallow-marine carbonate environments in the western and central Neotethys are characterized by reduction in generic diversity and in abundance of individuals. The morphological analysis indicated four major biogeographic regions for the Eocene larger Miliolids: 1) the Caribbean, 2) the “European” Neotethys (western, central and eastern), 3) the North African Neotethys (southern) and 4) the Indo-Pacific. The morphological biogeographic pattern corresponds to the circum-global Eocene current ocean system and the prevailing temperature sea surface gradient along tropical-subtropical paleolatitudes. A tendency to endemism can be observed for Fabulariids in the Caribbean during the Middle and Upper Eocene, and for Lacazinella during the Middle and late Eocene to Oligocene in the New Guinea and Molucca regions.
Late Cretaceous continental vertebrate fossil record from India: Palaeobiogeographical insights
Authors: Prasad Guntupalli V. R. , Sahni Ashok
Published: September 2009

Geophysical data suggested a minimum of 35 Ma physical isolation for the Indian plate from the time of its separation from Madagascar around 88 Ma ago to its final collision with Asia in the Early-Middle Eocene (55-50 Ma ago). Such an extended period of segregation of any landmass is expected to result in genetic isolation of pre-existing populations leading to the development of endemic biota. Therefore, continental Late Cretaceous biota of India hold the key to our understanding of effects of long isolation and northward drift of the Indian plate over different latitudinal belts. Focused palaeontological research in the last one and half decades on the Deccan volcano-sedimentary sequences (infra– and intertrappean beds) has resulted in the recovery of diverse assemblages of vertebrate, invertebrate, and plant fossils. The Deccan volcano-sedimentary sequences were dated Late Cretaceous-Early Palaeocene in age based on vertebrate, ostracod, planktonic foraminiferal, palynofloral and geochronological data. Critical evaluation of the biota from these strata brings out a complex biogeographical picture. The Late Cretaceous biota of India include some taxa of Gondwanan affinities (leptodactylid, hylid and ranoid frogs, madtsoiid and nigerophiid snakes, pelomedusoid turtles, mesosuchian crocodiles, abelisaurid dinosaurs, and gondwanathere mammals), Gondwanan relicts (haramiyidan mammals), certain taxa of Laurasian affinities (pelobatid and Gobiatinae frogs, anguimorph lizards, eutherian mammals, charophytes), and ostracods of predominantly endemic nature. Since India was once part of the former Gondwanaland, the presence of Gondwanan taxa in the Late Cretaceous of India is not anomalous from a biogeographic point of view. These taxa might have been derived from Gondwanan stocks that boarded the Indian plate prior to its break-up from Africa or might represent immigrants from South America that reached the Indo-Madagascar block via Antarctica and the Kerguelen Plateau/Gunnerus ridge not later than 80 Ma. However, the presence of Laurasian non-marine taxa in the northward drifting Indian plate defies palaeogeographical data showing a wide body of marine water (Tethys) separating India from Asia. In the light of latest palaeontological, stratigraphic, geochemical and geophysical data from the northern margin of India, one cannot rule out dispersals from the northern landmasses across the Kohistan and Dras island-arcs and Trans-Himalayan magmatic arc. Other biogeographical models, such as “Out-of-India Dispersals” for many vertebrate, invertebrate, and plant groups, also deserve a close examination. At present, limited quantitative fossil data is available to test these biogeographical models.
Statistical Optimization of Biohydrogen Production from Palm Oil Mill Effluent by Natural Microflora
Authors: Rasdi Zatilfarihiah , Rahman Nor Aini Abdul , Abd-Aziz Suraini , Lai-Yee Phang , Zulkhairi Mohd , Yusoff Mohd , Mei-Ling Chong , Ali Hassan Mohd
Published: September 2009

In this study, palm oil mill effluent (POME) was used as the substrate for biohydrogen production. Heat-treated
POME sludge acclimated with POME incubated at 37°C for 24 hours was used as seed culture. Preliminary screening on
the effects of inocula sizes, heat treatment, substrate concentration and pH of incubation by using a factorial design (FD)
were conducted under mesophilic condition (37°C) using a serum vial (160 mL). The experimental results from two-level
FD showed that pH and Chemical Oxygen Demand (COD) of POME significantly affected biohydrogen production. Optimizations
of the specific hydrogen production (Ps) and the hydrogen production rate (Rm) were achieved by using a central
composite design (CCD). The maximum Ps of 272 mL H2/g carbohydrate was obtained under optimum conditions of
pH 5.75 and substrate concentration of 80 g/L. The maximum Rm of 98 mL H2/h was calculated under the optimum conditions
of pH 5.98 and substrate concentration of 80 g/L. The optimized conditions obtained were subjected to a confirmation
run and it showed reproducible data with a Ps of 226 mL H2/g carbohydrate and Rm of 72 mL H2/h.
Conserved Cytogenetic Features in the Amazonian Arapaima, Arapaima gigas (Schinz 1822) from Jamari River, Rondônia–Brazil
Authors: da Rosa Renata , Rubert Marceléia , Caetano-Filho Mauro , Giuliano-Caetano Lucia
Published: September 2009

Specimens of Arapaima gigas from Jamari River (RO) were cytogenetically analyzed. A diploid number of
2n=56 chromosomes was found (28m-sm + 28st-a). Secondary constrictions were observed on the short arms of
chromosome 3. Nucleolar Organizer Regions (NORs) were detected at the subterminal region on short arms of the third
chromosomal pair by both silver nitrate staining and FISH with 45S rDNA probe, being equivalent to secondary
constrictions. The ribosomal sites were also characterized by size heteromorphism and presence of CMA3+/DAPI- blocks.

The constitutive heterochromatin was located at pericentromeric region of some chromosomes. After sequential Cbanding
and base-specific fluorochromes staining, most of the heterochromatins proved to be neutral, i.e., with similar
amounts of AT and GC bases. Nonetheless, some heterochromatic regions were marked by GC-specific fluorochromes in
one chromosomal pair and by AT-specific fluorochrome staining on two pairs. The present data are in agreement with
previous reports in populations from Araguaya River, indicating that conserved cytogenetic features are present in this
important fish species.
Mathematical Model of a Falling Film Reactor for Methyl Ester Sulfonation
Authors: Torres Ortega Jesús Alfonso , Morales Medina Giovanni , Suárez Palacios Oscar Yesid , Sánchez Castellanos Francisco José
Published: September 2009

Methyl ester sulfonation with sulfur trioxide derived from oleum is possible under special conditions on a pilot plant scale. Quantum chemical calculations were used to study the relative stability between intermediates in the proposed mechanism. In this report an analysis of a mathematical model for a falling film sulfonation reactor is presented. It aims to estimate the temperature and conversion profiles of the thin film. The model treats the heat released and the trioxide sulfur dissolution assuming that the film theory is applicable. The temperature and concentration gradients can exist across the film during the chemical reaction. The equations were solved using finite differences. The most important data obtained by the mathematical model for a subsequent correlation with the properties of the reagents and product are the conversion, the density and viscosity of the sulfonic product. The results indicate an increase in the axial temperature of the liquid film and the conversion from the top reactor in accordance with the experimental results. It considers that at the upper section of the reactor the reaction is controlled by means of mass transfer due to gas phase turbulence. A mild conversion on the reactor bottom means that the liquid phase controls the mass transfer due to the amounts of sulfur trioxide transferred into the film which produces changes in the film composition.
Biphasic Dose Response in Low Level Light Therapy
Authors: Huang Ying-Ying , Chen Aaron C.-H. , Carroll James D. , Hamblin Michael R.
Published: September 2009

The use of low levels of visible or near infrared light for reducing pain, inflammation and edema, promoting healing of wounds, deeper tissues and nerves, and preventing cell death and tissue damage has been known for over forty years since the invention of lasers. Despite many reports of positive findings from experiments conducted in vitro, in animal models and in randomized controlled clinical trials, LLLT remains controversial in mainstream medicine. The biochemical mechanisms underlying the positive effects are incompletely understood, and the complexity of rationally choosing amongst a large number of illumination parameters such as wavelength, fluence, power density, pulse structure and treatment timing has led to the publication of a number of negative studies as well as many positive ones. A biphasic dose response has been frequently observed where low levels of light have a much better effect on stimulating and repairing tissues than higher levels of light. The so-called Arndt-Schulz curve is frequently used to describe this biphasic dose response. This review will cover the molecular and cellular mechanisms in LLLT, and describe some of our recent results in vitro and in vivo that provide scientific explanations for this biphasic dose response.
Ad-Hoc vs. Standardized and Optimized Arthropod Diversity Sampling
Authors: Cardoso Pedro , Crespo Luís  C. , Carvalho Rui , Rufino Ana  C. , Henriques Sérgio  S.
Published: September 2009

The use of standardized and optimized protocols has been recently advocated for different arthropod taxa instead of ad-hoc sampling or sampling with protocols defined on a case-by-case basis. We present a comparison of both sampling approaches applied for spiders in a natural area of Portugal. Tests were made to their efficiency, over-collection of common species, singletons proportions, species abundance distributions, average specimen size, average taxonomic distinctness and behavior of richness estimators. The standardized protocol revealed three main advantages: (1) higher efficiency; (2) more reliable estimations of true richness; and (3) meaningful comparisons between undersampled areas.
Enhanced Oil Recovery (EOR) by Miscible CO2 and Water Flooding of Asphaltenic and Non-Asphaltenic Oils
Authors: Chukwudeme Edwin  A. , Hamouda Aly  A.
Published: September 2009

An EOR study has been performed applying miscible CO2 flooding and compared with that for water flooding. Three different oils are used, reference oil (n-decane), model oil (n-C10, SA, toluene and 0.35 wt % asphaltene) and crude oil (10 wt % asphaltene) obtained from the Middle East. Stearic acid (SA) is added representing a natural surfactant in oil. For the non-asphaltenic oil, miscible CO2 flooding is shown to be more favourable than that by water. However, it is interesting to see that for first years after the start of the injection (< 3 years) it is shown that there is almost no difference between the recovered oils by water and CO2, after which (> 3 years) oil recovery by gas injection showed a significant increase. This may be due to the enhanced performance at the increased reservoir pressure during the first period. Maximum oil recovery is shown by miscible CO2 flooding of asphaltenic oil at combined temperatures and pressures of 50 °C/90 bar and 70 °C/120 bar (no significant difference between the two cases, about 1%) compared to 80 °C/140 bar. This may support the positive influence of the high combined temperatures and pressures for the miscible CO2 flooding; however beyond a certain limit the oil recovery declined due to increased asphaltene deposition. Another interesting finding in this work is that for single phase oil, an almost linear relationship is observed between the pressure drop and the asphaltene deposition regardless of the flowing fluid pressure.
Mercuric(II) Acetate Oxidation of Steroidal Exocyclic α,β-Unsaturated Ketone: Transformation into a Cyclic Ether
Authors: Ghosh Pranab , Sarkar Antara , Das Jayanta
Published: September 2009

16-Dehydropregnenolone acetate (16-DPA) (1), an exocyclic α,β-conjugated ketone having a steroidal skeleton, when treated with mercuric(II) acetate in acetic acid furnished a single compound identified as (2). The structure of compound (2) has been elucidated on the basis of spectral data analysis (IR, NMR and MS).
Optimization of Optical Properties of Polycarbonate Film with Thiol Gold-Nanoparticles
Authors: Larosa Claudio , Stura Enrico , Eggenhöffner Roberto , Nicolini Claudio
Published: September 2009

A new nanostructured composite film based on thiol gold nanoparticles dispersed in polycarbonate and prepared by evaporating a solution of 1-dodecanthiol gold nanoparticles and polycarbonate was developed for applications as optical lenses. Lenses with superior mechanical properties, coloring and UV ray absorption and with the same transparency as the matrix were obtained. The supporting highly transparent polycarbonate matrix and the chloroform solution of thiol gold nanoparticles, 3 nm mean size, was mixed according to a doping protocol employing different concentrations of thiol gold nanoparticles vs. polycarbonate. The presence of nanoparticles in the polymer films was confirmed by the spectrophotometric detection of the characteristic absorbance marker peak at 540–580 nm. The nanostructured films obtained show a better coverage in the UV-vis range (250–450 nm) even at very low doping ratios, of the order of 1:1,000. These results offer a very promising approach towards the development of efficient nanostructured materials for applications to optical lenses.
Tris(2,4,6-trimethoxyphenyl)phosphine (TTMPP): Efficient Catalysts for the Cyanosilylation and Cyanocarbonation of Aldehydes and Ketones
Authors: Matsukawa Satoru , Sekine Izumi , Iitsuka Ayumi
Published: September 2009

A variety of aldehydes and ketones were transformed to their corresponding cyanohydrin silyl ethers in good to excellent yields in the presence of 1-5 mol% of tris(2,4,6-trimethoxyphenyl)phosphine (TTMPP). Cyanohydrin carbonates were also readily prepared using 5-10 mol% of TTMPP as an organocatalyst.