Monozygotic twins discordant for Goldenhar syndrome

OBJECTIVE: To report on a pair of monozygotic female twins discordant for Goldenhar syndrome. DESCRIPTION: The affected twin was a girl, who was delivered by caesarean section at 35 weeks' gestation. Her birth weight was 2,170 g, length 42.5 cm, head circumference 30 cm and her Apgar scores were 3/7. After birth the child developed severe respiratory distress and had to be moved to the neonatal intensive care unit (ICU). The other twin was a girl, born weighing 3,200 g with a length of 49 cm, head circumference of 34 cm and Apgar scores of 8/10. She was transferred to the mother-baby unit soon after birth and was discharged two days later. There was no consanguinity between the twins' parents, who were young and healthy at the time of their conception. The affected child's dysmorphic features included left hemifacial microsomia, severe micrognathia, abnormal ears, bilateral preauricular tags and epibulbar dermoid in the right eye. She developed obstructive apnea due to micrognathia and required tracheostomy. Abdominal and cranial ultrasound findings were normal, as was an ophthalmological assessment. Spine x-ray showed hemivertebra at T9 and T10. An echocardiogram showed Tetralogy of Fallot. GTG-banded karyotyping was performed on peripheral blood cells and revealed 46,XX. Zygosity testing established the pair of twins to be monozygotic with a probability greater than 99:1. COMMENT: Goldenhar syndrome was diagnosed in one of the twins described here. There are several reports of twins discordant for this disorder and therefore non-genetic factors may also play an important role, for instance vascular disruption during morphogenesis.OBJETIVO: Relatar um par de gêmeas monozigóticas, no qual uma das crianças é afetada pela síndrome de Goldenhar, enquanto a outra é saudável. DESCRIÇÃO: Paciente do sexo feminino, filha de pais sadios, jovens e não consangüíneos. A propósita nasceu de parto cesáreo pré-termo com Capurro somático de 35 semanas e 2 dias, pesando 2.170 g, com 42,5 cm de comprimento, perímetro cefálico de 30 cm e Apgar 3/7. Ao nascimento, a criança evoluiu com desconforto respiratório grave, sendo transferida para unidade de tratamento intensivo neonatal. A outra gemelar nasceu com 3.200 g, 49 cm de comprimento, 34 cm de perímetro cefálico e Apgar 8/10. Foi transferida junto com a mãe para o alojamento conjunto da maternidade e recebeu alta com 2 dias de vida. A criança afetada apresentava hipoplasia facial esquerda, micrognatia importante, displasia de pavilhão auricular e apêndices pré-auriculares bilaterais e dermóide epibulbar à direita. Evoluiu com apnéia obstrutiva, em conseqüência da micrognatia, e necessitou de traqueostomia. As ultra-sonografias de crânio e abdome foram normais, a radiografia de coluna total mostrou hemivértebra em T9/T10, o ecocardiograma detectou tetralogia de Fallot, e o cariótipo realizado a partir de linfócitos de sangue periférico com bandeamento GTG foi 46,XX. A avaliação oftalmológica foi normal. O exame molecular provou tratar-se de gêmeas monozigóticas com 99,99% de probabilidade. COMENTÁRIO: A clínica e os exames complementares levaram ao diagnóstico de síndrome de Goldenhar. Existem relatos de gemelares afetados por essa condição com expressividade variável, o que corrobora a hipótese de que a etiologia não é puramente genética, mas resultado de um processo de disrupção vascular no período de morfogênese.Centro Universitário Barão de Mauá Faculdade de MedicinaHospital Santa Casa de Misericórdia de Ribeirão PretoUniversidade Federal de São Paulo (UNIFESP)UNIFESPSciEL

Prevalence of varicose veins and venous anatomy in patients without truncal saphenous reflux

Objectives. To determine the prevalence and distribution of primary venous re truncal saphenous reflux.Design. Prospective cohort study.Patients and methods. One thousand and seven hundred and twelve patients with suspected venous disease were examined by duplex ultrasonography. Seven hundred and thirty-five patients had primary varicose veins with competent saphenous trunks. Limbs With truncal saphenous reflux, deep vein reflux or obstruction, previous injection sclerotherapy or vein surgery, arterial disease and inflammation of non-venous origin were excluded from further consideration. the CEAP classification system was used for clinical staging. Systematic duplex ultrasound examination was undertaken to assess the distribution a incompetent saphenous tributaries.Results. the prevalence of primary reflux with competent saphenous trunks was 43%. Reflux of GSV calf tributaries was the most common. the majority of the limbs (96%) belonged to chronic venous disease classes C1 and C2 of the CEAP classification.Conclusions. Superficial venous reflux causing varicose veins in the presence competent saphenous trunks is very prevalent in this series in contrast to other studies, presumably reflecting differing patient populations. Our data clearly show that varicose veins may occur in any vein and do not depend on truncal saphenous incompetence. Careful duplex ultrasound evaluation allows the pattern of venous reflux to be established in this group of patient ensuring appropriate management of varices.Maringa State Univ, BR-87050610 Maringa, Parana, BrazilUniversidade Federal de São Paulo, Vasc Div, Dept Surg, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Biostat, São Paulo, BrazilSanto Amaro Univ, São Paulo, BrazilMaringa Reg Hosp, Maringa, Parana, BrazilUniversidade Federal de São Paulo, Vasc Div, Dept Surg, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Biostat, São Paulo, BrazilWeb of Scienc

Technical Note: The Forensic Anthropology Society of Europe (FASE) Map of Identified Osteological Collections

Identified (documented) osteological collections represent an important resource in the development of forensic anthropology standards and methods as well as a precious tool for learning and training of practitioners. Even though the number of papers presenting identified collections worldwide increases, many of the collections have still not been divulged to the scientific community in sufficient detail to ascertain their exact number. The Forensic Anthropology Society of Europe (FASE) therefore developed a tool that goes beyond sporadic publications: the FASE Map of Identified Osteological Collections, which is freely accessible and continuously updated and revised. The online map is available at http://forensicanthropology.eu/osteological-collections/. The map of skeletal collections was created in 2017 and currently displays information on 153 identified osteological collections (43 of them categorized as contemporary) located in 41 different countries. This article offers a short analysis of the type, geographical location and content of the collections included in the map. The aim of this article and the map as such is to provide a useful resource to facilitate research planning and teaching in forensic anthropology and related disciplines.info:eu-repo/semantics/publishedVersio

Adaptation and validation of the Inventory of family protective factors for the portuguese culture

Aim: Describe the process of cultural adaptation and validation of Inventory of Family Protective Factors (IFPF) for portuguese culture. This instrument assesses the protective factors that contribute to family resilience. Studies of resilience fall the salutogenic paradigm, which focuses on protective factors of individuals or groups, without minimizing the risk factors and vulnerability. Methods: We applied this instrument to 85 families of children with special needs and, after linguistic and conceptual equivalence, used an exploratory factor analysis with principal components analysis (with varimax rotation) and calculated the Cronbach's alpha coefficient for each dimension. Results: adequate psychometric properties to be used in Portuguese population (Cronbach´s alpha =.90). Conclusion: IFPF is an useful instrument for studies which propose assess the protective factors of family resilience, however we suggest further studies of revalidation.Objetivo: Describir el proceso de adaptación cultural y validación para la cultura portuguesa de Inventory of Family Protective Factors (IFPF). Este instrumento evalúa los factores de protección que contribuyan a la resiliencia familiar. Estudios de resiliência familiar se apoyan en el paradigma salutogénico, que se centra en los factores de protección de individuos o grupos, sin subestimar los factores de riesgo y vulnerabilidad. Metodologia: Aplicamos este instrumento a 85 familias de niños con necesidades especiales y, después de la equivalencia lingüística y conceptual, hemos llevado a cabo un análisis factorial exploratorio de componentes principales con rotación varimax y calculamos el coeficiente alfa de Cronbach. Resultados: la IFPF tiene adecuadas propiedades psicométricas para la población portuguesa (alfa de Cronbach = .90). Conclusion: Esta es una herramienta útil para evaluar los factores protectores de la resiliencia familiar, sin embargo sugerimos estudios futuros de revalidación.Objetivos: adaptar e validar o Inventory of Family Protective Factors (IFPF) para a cultura portuguesa. Este instrumento avalia os fatores protetores que contribuem para a resiliência familiar. Os estudos sobre resiliência inserem-se no paradigma salutogénico, abordando os fatores protetores dos indivíduos ou grupos, sem subestimar os fatores de risco ou vulnerabilidade. Método: para avaliar a equivalência linguística e conceitual do IFPF realizamos a tradução, retroversão e reflexão falada; para aferir as características psicométricas do instrumento verificamos a sensibilidade, confiabilidade e a validade dos resultados. Realizamos uma análise fatorial de componentes principais com rotação varimax dos itens da escala e calculamos o coeficiente Alpha de Cronbach para cada dimensão. Através de uma amostragem aleatória simples, aplicamos este instrumento a 85 famílias de crianças com necessidades especiais que o auto-preencheram. Resultados: o IFPF apresenta características psicométricas adequadas para a população portuguesa (alfa de Cronbach de .90). Conclusão: o IFPF foi adaptado e validado para a cultura portuguesa. Consideramos tratar-se de um instrumento útil para estudos que se proponham avaliar os fatores protetores da resiliência familiar

Fatores de risco para prolongamento do tempo de permanência após cirurgia colorretal

OBJETIVO: Os cirurgiões proctologistas muitas vezes enfrentam dificuldades para explicar aos administradores/contribuintes as razões para o prolongamento do tempo de internação hospitalar (TIH). O objetivo deste estudo foi identificar os fatores associados ao aumento do TIH após cirurgia colorretal. MÉTODO: A população do estudo incluiu pacientes que constam do banco de dados do American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP) no ano de 2007 e que foram submetidos à ressecção ileocólica, colectomia segmentar ou ressecção anterior. A população do estudo foi dividida em normal (abaixo do percentil 75) e TIH prolongado (acima do percentil 75). A análise multivariada foi realizada usando o TIH prolongado como variável dependente e as variáveis do ACS-NSQIP como preditivas. Um valor de p < 0,01 foi considerado significativo. RESULTADOS: No total, 12.269 pacientes com um TIH mediano de 6 dias (intervalo interquartil, 4-9) foram incluídos. Havia 2.617 pacientes (21,3%) com TIH prolongado (mediana, 15 dias; intervalo interquartil, 13-22). A idade média dos pacientes era de 69 anos (intervalo interquartil, 57-79) e 1.308 (50%) eram do sexo feminino. Os fatores de risco para TIH prolongado foram sexo masculino, insuficiência cardíaca congestiva, perda de peso, doença de Crohn, albumina < 3,5 g/dL e hematócrito < 47% no pré-operatório, sepse basal, classe ASA ≥ 3, cirurgia aberta, tempo cirúrgico ≥ 190 minutos, pneumonia no pós-operatório, falha no desmame da ventilação mecânica, trombose venosa profunda, infecção do trato urinário, sepse sistêmica, infecção do sítio cirúrgico e reoperação dentro de 30 dias da cirurgia primária. CONCLUSÃO: Vários fatores estão associados ao aumento do TIH após a cirurgia colorretal. Nossos resultados são úteis para que os cirurgiões possam explicar os TIH prolongados aos administradores/contribuintes que são críticos dessa métrica.OBJECTIVE: Colorectal surgeons often struggle to explain to administrators/payers reasons for prolonged length of stay (LOS). This study aim was to identify factors associated with increased LOS after colorectal surgery. DESIGN: The study population included patients from the 2007 American-College-of-Surgeons-National-Surgical-Quality-Improvement-Program (ACS-NSQIP) database undergoing ileocolic resection, segmental colectomy, or anterior resection. The study population was divided into normal (below 75th percentile) and prolonged LOS (above the 75th percentile). A multivariate analysis was performed using prolonged LOS as dependent variable and ACS-NSQIP variables as predictive variables. P-value < 0.01 was considered significant. RESULTS: 12,269 patients with a median LOS of 6 (inter-quartile range 4-9) days were included. There were 2,617 (21.3%) patients with prolonged LOS (median 15 days, inter-quartile range 13-22). 1,308 (50%) were female, and the median age was 69 (inter-quartile range 57-79) years. Risk factors for prolonged LOS were male gender, congestive heart failure, weight loss, Crohn's disease, preoperative albumin < 3.5 g/dL and hematocrit < 47%, baseline sepsis, ASA class ≥ 3, open surgery, surgical time ≥ 190 min, postoperative pneumonia, failure to wean from mechanical ventilation, deep venous thrombosis, urinary-tract infection, systemic sepsis, surgical site infection and reoperation within 30-days from the primary surgery. CONCLUSION: Multiple factors are associated with increased LOS after colorectal surgery. Our results are useful for surgeons to explain prolonged LOS to administrators/payers who are critical of this metric

An unusual case of an isolated capitellar fracture of the right elbow in a child: a case report

<p>Abstract</p> <p>Introduction</p> <p>Although elbow fractures have a high incidence in the pediatric population, fractures of the capitellum are almost exclusively observed in individuals older than 12 years of age. Due to their rarity in children, reports with large numbers of cases are lacking in the literature and the surgical treatment options are poorly defined.</p> <p>Case presentation</p> <p>We present the case of an 11-year-old Portuguese girl with a displaced fracture of the capitellum of the right elbow, a typical Hahn-Steinthal or Type 1 fracture, which was followed for one year. The treatment and outcome of this fracture are described. Our patient underwent an open reduction and internal fixation with two cannulated screws. There were no complications and normal elbow function was recovered.</p> <p>Conclusion</p> <p>The authors believe that cannulated screw fixation is a reliable method of treatment for Type 1 capitellar fracture in children because it enables good interfragmentary compression, early mobilization, faster functional elbow recovery and implant removal is rarely necessary.</p

One-step isolation and biochemical characterization of a highlyactive plant PSII monomeric core

We describe a one-step detergent solubilization protocol for isolating a highly active form of Photosystem II (PSII) from Pisum sativum L. Detailed characterization of the preparation showed that the complex was a monomer having no light harvesting proteins attached. This core reaction centre complex had, however, a range of low molecular mass intrinsic proteins as well as the chlorophyll binding proteins CP43 and CP47 and the reaction centre proteins D1 and D2. Of particular note was the presence of a stoichiometric level of PsbW, a low molecular weight protein not present in PSII of cyanobacteria. Despite the high oxygen evolution rate, the core complex did not retain the PsbQ extrinsic protein although there was close to a full complement of PsbO and PsbR and partial level of PsbP. However, reconstitution of PsbP and PsbPQ was possible. The presence of PsbP in absence of LHCII and other chlorophyll a/b binding proteins confirms that LHCII proteins are not a strict requirement for the assembly of this extrinsic polypeptide to the PSII core in contrast with the conclusion of Caffarri et al. (2009)