Neonatal facial and cry responses to invasive and non-invasive procedures

Evaluation of pain in neonates is difficult due to their limited means of communication. The aim was to determine whether behavioural reactions of cry and facial activity provoked by an invasive procedure could be discriminated from responses to non-invasive tactile events. Thirty-six healthy full-term infants (mean age 2.2 h) received 3 procedures in counterbalanced order: intramuscular injection, application of triple dye to the umbilical stub, and rubbing thigh with alcohol. Significant effects of procedure were found for total face activity and latency to face movement. A cluster of facial actions comprised of brow bulging, eyes squeezed shut, deepening of the naso-labial furrow and open mouth was associated most frequently with the invasive procedure. Comparisons between the 2 non-invasive procedures showed more facial activity to thigh swabbing and least to application of triple dye to the umbilical cord. Acoustic analysis of cry showed statistically significant differences across procedures only for latency to cry and cry duration for the group as a whole. However, babies who cried to two procedures showed higher pitch and greater intensity to the injection. There were no significant differences in melody, dysphonation, or jitter. Methodological difficulties for investigators in this area were examined, including criteria for the selection of cries for analysis, and the logical and statistical challenges of contrasting cries induced by different conditions when some babies do not always cry. It was concluded that facial expression, in combination with short latency to onset of cry and long duration of first cry cycle typifies reaction to acute invasive procedures.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplications are flanked by large, directly oriented segmental duplications of >98% sequence identity, suggesting that nonallelic homologous recombination (NAHR) caused these genomic rearrangements. Nine individuals with deletions and five with duplications have additional copy number changes. Detailed clinical evaluation of 20 patients with deletions revealed variable clinical features, with developmental delay (DD) and/or intellectual disability (ID) as the only features common to a majority of individuals. We suggest that some of the other features present in more than one patient with deletion, including hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis may result from deletion of the CHAT gene, encoding choline acetyltransferase, and the SLC18A3 gene, mapping in the first intron of CHAT and encoding vesicular acetylcholine transporter. The phenotypic diversity and presence of the deletion in apparently normal carrier parents suggest that subjects carrying 10q11.21q11.23 deletions may exhibit variable phenotypic expressivity and incomplete penetrance influenced by additional genetic and nongenetic modifiers.

Niagara-Welland Power Company Limited fonds, 1833, 1852, 1904-1906, 1909, n.d.

The Welland Power and Supply Canal Company Limited, established in 1893 and incorporated in 1894 with a capital stock of $500,000. The aim of the company was to harness the natural water supply of the Niagara and Welland Rivers. In 1898 the Canadian Electrical News published a report by Henry Symons, QC outlining the main project of the company. This project involves the construction of a canal from the Welland River to the brow of the mountain at Thorold, a distance of 8 miles; the construction at Thorold of a power house, and from Thorold to Lake Ontario, a raceway by which to carry water into the lake. The estimate for the machinery to generate 100,000 horse power is £125,000; for transmission line to Toronto at a voltage of 10,000….The total estimate therefore amounts to £2,452,162, or roughly speaking, $12,000,000. Source: Canadian Electrical News, August 1898, p. 172. In 1899 the company officers petitioned the federal government desiring a name change to the Niagara-Welland Power Company Limited. Officers of the company were Harry Symons, President; Charles A. Hesson, Vice-President; and M.R. O’Loughlin, James B. Sheehan, James S. Haydon, Frederick K. Foster, directors; John S. Campbell, secretary-treasurer. The company’s head offices were located in St. Catharines, with a New York (City) office on Broad Street. In 1905 and 1909 the company petitioned the federal government for additional time to construct its works, which was granted. The company had until May 16, 1915 to complete construction. John S. Campbell (1860-1950) was a graduate of the University of Toronto and Osgoode Hall. During his university years John began his military career first in "K" Company, Queens Own rifles and then later as Commanding Officer of the 19th Lincoln Regiment, from 1906 to 1910. Upon his return to St. Catharines John Campbell served as secretary in the St. Catharines Garrison Club, a social club for military men begun in 1899. After being called to the Bar, he became a partner in the firm of Campbell and McCarron and was appointed to the bench in 1916, serving until retirement in 1934. Judge Campbell served as an alderman for several terms and was the mayor of St. Catharines in 1908 and 1909. He also served as the first chairman of the St. Catharines Public Utilities in 1914. John S. Campbell was married to Elizabeth Oille, daughter of Jerome B. and Charlotte (St. John) Oille. The family home "Cruachan" was located at 32 Church St.

Office of the University President Sous fonds: Dr. James A. Gibson

Dr. James A. Gibson was born in Ottawa on January 29, 1912 to John W. and Belle Gibson. At an early age the family moved to Victoria, B.C. where John W. Gibson was a director of the Elementary Agricultural Education Branch, Department of Education. Gibson received his early education in Victoria, receiving a B.A. (honours) at UBC in 1931. In 1931 he was awarded the Rhodes scholarship and received his B.A., M.A., B.Litt and D. Phil at New College, Oxford. This was to be the beginning of a long and dedicated relationship with the Rhodes Scholar Association. Upon his return to Canada, Dr. Gibson lectured in Economics and Government at the University of British Columbia. In 1938 he was married to Caroline Stein in Philadelphia, and the same year joined the staff of the Department of External Affairs as a Foreign Service officer. Within twenty minutes of his arrival he was seconded to the Office of the Prime Minister and Secretary of State for External Affairs, W. L. Mackenzie King in charge of War Records and Liaison Officer. This was a critical time in the history of Canada, and Dr. Gibson experienced firsthand several milestones, including the Royal Visit of King George VI and Queen Elizabeth in 1939. Dr. Gibson was present at the formation of the United Nations in San Francisco in 1945, being part of the Prime Minister’s professional staff as well as attending conferences in Washington, Quebec and London as an advisor to the Canadian delegation. Gibson contributed many articles to the publication bout de papier about his experiences during these years. After his resignation in 1947, Gibson joined the staff of the fledgling Carleton College, as a lecturer. In 1949 he was appointed a professor and in 1951 became Dean of Arts and Sciences. Dr. Gibson acted as President from 1955 to 1956 upon the sudden death of Dr. MacOdrum. In 1963 Dr. Gibson accepted the invitation of the Brock University Founders’ Committee, chaired by Arthur Schmon, to become the founding president. Dr. Gibson guided the new University from a converted refrigeration plant, to an ever expanding University campus on the brow of the Niagara Escarpment. Dr. Gibson remained firmly “attached” to Brock University. Even after official retirement, in 1974, he retained the title President Emeritus. Gibson’s final official contribution was an unpublished ten year history of the University. In retirement Gibson remained active in scholarly pursuits. He was a visiting scholar at the Center of Canadian Studies, University of Edinburgh; continued his ongoing research activities focusing on W. L. Mackenzie King, the Office of the Governor General of Canada, and political prisoners transported to Van Dieman’s Land. He remained active in the Canadian Association of Rhodes Scholars, becoming editor from 1975 to 1994 and was appointed Editor Emeritus and Director for Life in 1995 in honour of his dedicated and outstanding service. In 1993 he was awarded one of Canada’s highest achievements, the Order of Canada. Gibson retained close ties with Brock University and many of its faculty. He maintained an office in the Politics Department where he became a vital part of the department. In 1996 Brock University honoured Gibson by naming the University Library in his honour. James A. Gibson Library staff was instrumental in celebrating the 90th birthday of Gibson in 2002, with a widely attended party in the Pond Inlet where many former students, including Silver Badgers. The attendees also included former and current colleagues from Brock University, Canadian Rhodes Scholars Association, family and friends. Gibson was later to remark that the highlight of this event was the gift of his original academic robe which he had personally designed in 1964. In 2003 Dr. Gibson moved to Ottawa to be near some of his children and the city of his birth and early career. In that year “two visits to Brock ensued: the first, to attend a special celebration of the James A. Gibson Library; his late to attend the 74th Convocation on Saturday, October 18, 2003. A week later, in Ottawa, he went for a long walk, returned to his residence, Rideau Gardens, went into the lounge area, took off his coat and folded it up, put it on the back of his chair, sat down, folded his hands in his lap, closed his eyes, and died”. With sources from: Carleton University The Charlatan, Gibson CV, and Memorial Service Programme

Diseño, construcción y verificación de un instrumento de medición de factores de riesgo psicosocial en clima organizacional

El objetivo de esta investigación fue diseñar, construir y verificar un instrumento de medición de factores de riesgo psicosocial que afectan la salud mental al interior de las organizaciones. Las investigaciones que se han realizado al respecto se encaminan a medir percepciones en los individuos pero no de mediciones en términos de factores de riesgo. Por tal razón surge la necesidad de diseñar un instrumento de medición de dichos factores en la población colombiana. La metodología utilizada fue el diseño y construcción de un instrumento de medición de factores de riesgo psicosocial a partir de la documentación de investigaciones realizadas en clima organizacional tanto a nivel mundial como nacional, y basándose en datos descriptivos. Para tal fin se utilizó la aplicación del instrumento en 3 empresas colombianas, aplicando la prueba a un total de 534 personas. Se aplicó una prueba piloto a 30 personas y dos aplicaciones a la misma población.

Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres

Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by ptosis, dysphagia and proximal limb weakness. Autosomal-dominant OPMD is caused by a short (GCG)8–13 expansions within the first exon of the poly(A)-binding protein nuclear 1 gene (PABPN1), leading to an expanded polyalanine tract in the mutated protein. Expanded PABPN1 forms insoluble aggregates in the nuclei of skeletal muscle fibres. In order to gain insight into the different physiological processes affected in OPMD muscles, we have used a transgenic mouse model of OPMD (A17.1) and performed transcriptomic studies combined with a detailed phenotypic characterization of this model at three time points. The transcriptomic analysis revealed a massive gene deregulation in the A17.1 mice, among which we identified a significant deregulation of pathways associated with muscle atrophy. Using a mathematical model for progression, we have identified that one-third of the progressive genes were also associated with muscle atrophy. Functional and histological analysis of the skeletal muscle of this mouse model confirmed a severe and progressive muscular atrophy associated with a reduction in muscle strength. Moreover, muscle atrophy in the A17.1 mice was restricted to fast glycolytic fibres, containing a large number of intranuclear inclusions (INIs). The soleus muscle and, in particular, oxidative fibres were spared, even though they contained INIs albeit to a lesser degree. These results demonstrate a fibre-type specificity of muscle atrophy in this OPMD model. This study improves our understanding of the biological pathways modified in OPMD to identify potential biomarkers and new therapeutic targets.

Immediate reconstruction following breast-conserving surgery: Management of the positive surgical margins and influence on secondary reconstruction

The efficacy of breast-conserving Surgery for the local control of early breast cancer has been repeatedly evidenced. Although immediate reconstruction following breast-conserving Surgery has been described, little information is available regarding surgical management in reoperative settings due to positive margins. We studied the influence of intraoperatively assessed and postoperatively controlled Surgical margin status on the type of breast-conserving Surgery and report our results regarding complications in a reoperative breast reconstruction scenario. All patients were seen by a multidisciplinary team who recommended breast-conserving surgery. According to the breast volume, ptosis and tumor size/location, the patients were also evaluated by a plastic Surgeon, who recommended reconstruction with the appropriate technique. Intraoperative assessment Of Surgical margins was determined by histological examination of frozen sections. The mean follow-up time was 48 months. Two hundred and eighteen patients (88.5%) underwent breast-conserving Surgery and immediate reconstruction. Twelve (5.5%) patients had a positive tumor margin after review of the permanent section. All patients underwent re-exploration. In 1.3%, a second reconstructive technique was indicated and in 2.2% a skin-sparing mastectomy with total reconstruction was performed. Our findings support the important role of the intraoperative assessment of surgical margins and its interference in the selection of reconstruction techniques and negative margins: however, it will not guarantee complete excision of the tumor. Success depends on coordinated planning with the oncologic Surgeon and careful intraoperative management, (C) 2008 Elsevier Ltd. All rights reserved.

Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

The first reported case of human tick paralysis in Brazil: a new induction pattern by immature stages

Tick paralysis (TP) is a rare disease with rapid progression and potential fatal evolution. Immediately after the diagnosis, removal of all ticks from the body of the patient is mandatory. The present study reports for the first time a human case of the disease in Brazil. The patient had loss of muscle strength, decreased reflexes and marked palpebral ptosis. Six hours after removal of the last tick, the ptosis improved and on the following day, the patient had near total regression of the symptoms. This report emphasizes the possible presence of similar cases that should be promptly diagnosed and quickly treated. A new induction pattern for TP in humans associated with immature stages of ticks is also presented.

Síndrome de Horner na infância: relato de caso

O intuito deste é apresentar um caso raro de síndrome de Horner na infância. Trata-se de uma criança do sexo masculino, com idade de 2 anos e 1 mês, que apresentava desde o nascimento ptose palpebral, miose e anidrose da hemiface esquerda. A instilação de fenilefrina 2,5% provocou midríase, com pupilas isocóricas, confirmando o diagnóstico. A história e o exame clínico auxiliam a localizar o nível da lesão e a estabelecer a etiologia do quadro.

Alterações palpebrais após a idade de 50 anos

OBJETIVO: Avaliar quantitativamente as mudanças da posição palpebral e as medidas da fenda palpebral de indivíduos acima dos 50 anos. MÉTODOS: Estudo observacional, tendo sido avaliados 325 indivíduos, com idade acima de 50 anos, segundo distância intercantal, largura e altura da fenda palpebral, ângulo palpebral externo e interno, distância entre o reflexo pupilar e a margem da pálpebra superior (distância reflexo-margem) e a área total da fenda palpebral. Utilizou-se filmadora Sony Lithium para obtenção das imagens digitais, com o indivíduo fixando um objeto a 1 metro de distância, sendo as imagens transferidas posteriormente para computador McIntosh G4 e processadas pelo programa NIH 1.58. Os dados foram submetidos à análise estatística. RESULTADOS: Os participantes apresentavam dermatocálase (96,5%), ptose do supercílio (60,8%), prolapso de gordura orbital (50,0%) ou ptose palpebral (39,1%). As alterações foram bilaterais em 68,8% dos indivíduos. A distância intercantal aumentou com a idade; a largura da fenda palpebral, a distância reflexo-margem e a medida do ângulo externo diminuíram nos mais idosos. As diferenças foram mais significativas quando os olhos foram estudados separadamente. CONCLUSÃO: A distância intercantal aumenta, ao passo que a largura da fenda palpebral, a distância reflexo-margem e a área total da fenda palpebral diminuem com o aumento da idade.

Alterações dos cílios em portadores de cavidade anoftálmica

OBJETIVO: Avaliar a presença de alterações dos cílios em portadores de cavidade anoftálmica. MÉTODOS: Estudo observacional, procurando alterações ciliares em portadores de cavidade anoftálmica, atendidos na Faculdade de Medicina de Botucatu. RESULTADOS: Alterações dos cílios foram observadas em 70,7% dos portadores de cavidade anoftálmica. As alterações mais encontradas foram a ptose dos cílios (24,4%), diminuição do número (19,5%), tricomegalia (19,5%), triquíase (14,6%) e entrópio (17,0%). CONCLUSÃO: Os portadores de cavidade anoftálmica possuem alterações ciliares, sendo as mais observadas: ptose de cílios, redução do número, tricomegalia e triquíase. O fator que leva a estas alterações necessita de maiores investigações.

Ptose palpebral: avaliação do posicionamento palpebral por imagens digitais

Objectives: To assess the palpebral position in patients with congenital or acquired ptosis, related to margin, sulcus and eyebrow, trying to identify differences between types of ptosis. Methods: A retrospective evaluation of patients with palpebral ptosis treated at the Ambulatory of Ophthalmic Plastic Surgery - Faculdade de Medicina de Botucatu (UNESP) was conducted, from 1995 to 2006. Data were recovered from electronic medical charts as well as digital image files. Eighty-seven patients were assessed, according to age, gender and data related to ptosis, such as time of appearance and type of palpebral ptosis. Palpebral ptosis was classified in two groups: congenital and acquired ptosis. Measurements were taken of margin-reflex distance (MRD), margin sulcus distance (MSD) and margin eyebrow distance (MED) using digital measurements of photos obtained. The corneal diameter of each individual patients was the unit of measure used. All data was transferred to an Excel Spreadsheet and received statistical treatment. Results: Statistical analysis revealed there is no association between the presence of ptosis and gender, or the type of ptosis and gender. There was a significant difference between eyelid with and without ptosis for MRD. However, in relation to the type of ptosis (congenital or acquired), MRD did not present any significant difference. The MSD and MED measurements were higher in acquired ptosis when compared to congenital ptosis. Conclusion: Assessment of palpebral positioning using digital measures endorse that MRD is smaller in patients with palpebral ptosis and similar in congenital or acquired ptosis, whereas MSD and MED presented higher values in acquired ptosis.

Quantidade de gordura no músculo levantador da pálpebra de portadores de ptose congênita

OBJETIVO: Quantificar a gordura presente no músculo levantador da pálpebra de portadores de ptose congênita, correlacionando este achado com fatores clínico-epidemiológicos desta afecção. MÉTODOS: Vinte e duas amostras de músculo levantador da pálpebra superior, provenientes de portadores de ptose congênita, foram avaliadas morfometricamente, com o intuito de quantificar a gordura presente nos espécimes e correlacionar este achado com características como idade, sexo, grau de ptose e função do músculo levantador. RESULTADOS: Não houve correlação entre a quantidade de gordura encontrada no músculo levantador de portadores de ptose congênita e os dados clínicos dos pacientes estudados. CONCLUSÃO: A quantidade de gordura presente no músculo levantador da pálpebra superior, nas condições do presente estudo, não está associada com idade, sexo, grau de ptose ou função do músculo levantador. Novos estudos serão necessários para avaliar a real alteração que ocorre no músculo levantador da pálpebra de indivíduos com ptose palpebral.

Ação neuro-muscular do veneno crotálico: dados preliminares

Estudamos 6 pacientes, 2 cães e um coelho com intoxicação crotálica. Avaliamos a condução nervosa periférica sensitiva e motora, a transmissão neuromuscular e eletromiografias. As biópsias de músculo foram processadas por histoquímica. Os 6 pacientes apresentaram mononeuropatia sensitiva no nervo periférico adjacente ao local da inoculação do veneno e encontramos evidências histoquímicas de miopatia mitocondrial. Os defeitos da transmissão neuromuscular foram mínimos. A maioria dos autores admite que veneno crotálico determina síndrome miastênica. Nossos achados indicam que ptose palpebral, facies miastênico e fraqueza muscular observados após acidente crotálico, correspondem provavelmente a miopatia mitocondrial, muitas vezes transitória e reversível.