Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study.

BACKGROUND: Orofacial clefts are among the most common congenital craniofacial malformations and may be associated with other birth defects. However, the proportion and type of additional anomalies vary greatly between studies. This study assessed the prevalence and type of associated congenital malformations in children with orofacial clefts, who attended the largest cleft lip and palate tertiary referral center in Portugal. METHODS: Consecutive children with orofacial clefts who attended at least 1 consultation in our Clefts Unit between 1981 and 2012 were studied. Demographic and clinical data regarding the number and type of associated malformations were retrospectively collected and analyzed. RESULTS: Of the 701 patients studied, 219 (31.2%) had associated congenital malformations. These malformations were more frequent in children with cleft palate (43.4%) than in children with cleft lip and palate (27.5%) or with cleft lip only (19.4%). Within the group with associated anomalies, 73 cases (33.3%) had conditions related with known chromosomal defects, monogenic syndromes or sequences, and 146 cases (66.7%) had multiple congenital anomalies of unknown origin. From those, head and neck malformations were the most common (60.3%), followed by malformations in the cardiovascular (28.3%) and musculoskeletal systems (26%). CONCLUSIONS: The overall prevalence of associated malformations of nearly 1 in 3 children with orofacial clefts stressed the need for a comprehensive evaluation of these patients by a multidisciplinary cleft team. Moreover, one-third of the children had multiple congenital anomalies of known origins. Thus, early routine screening for other malformations and genetic counseling might be valuable for orofacial clefts management.

Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene.

A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and ß-cell function, adding information to the existent mutation databases.

[Persistence of left superior vena cava associated to esophageal atresia: presentation of 5 cases]. / Persistência da veia cava superior esquerda associada a atrésia do esófago: revisão de 5 casos.

BACKGROUND: Esophageal atresia is known to be associated with a variety of additional congenital anomalies in multiple organ systems. Persistent left superior vena cava is one of the most common venous thoracic anomaly, occurring in about 0,3% of the population. The aim of this study was to characterize persistent left superior vena cava in infants treated in Hospital Dona Estefânia with esophageal atresia. METHODS: A retrospective review of all children treated for esophageal atresia from January 2002 to December 2013 was undertaken. Charts were reviewed for gestational age, weight, type of atresia, preoperative echocardiogram, associated anomalies, surgical approach, eventual postoperative echocardiogram and angioresonance for the study of congenital venous anomaly. RESULTS: Of 107 children, five had persistent left superior vena cava. Of the five cases, one had prenatal diagnosis. Further investigation showed duodenal atresia in one, urologic malformation, coloboma and bilateral ear deformities in other. All five patients were operated on through right thoracotomy and primary anastomosis was performed after ligation of the trachea-esophageal fistula and underwent angioresonance to characterize the vascular anomaly. No operative or post-operative complications were registered. CONCLUSIONS: Inspite of the preoperative workup, the anomaly was only identified in one of the patients. Generally, diagnosis of PLSVC is incidentally found during routine left-sided central venous catheterizations. It is essential to characterize the pattern of cardiac venous return that places those patients at a risk for paradoxical embolic complications to the arterial system.

Atualidades na assistência de enfermagem a portadores de úlcera venosa / Nursing care to the venous ulcer carrier news / Atualidades en la ayuda del oficio de enfermera a los portadores de la úlcera del venosa

Úlcera venosa é uma lesão cutânea que acomete o terço inferior das pernas. Está associada à insuficiência venosa crônica, sendo esta a principal causa de úlcera de membros inferiores. Pode interferir na qualidade de vida, pois gera repercussões negativas na esfera social e econômica. A decisão quanto ao tipo do tratamento e orientações para prevenção de feridas exige conhecimento técnico e científico de um enfermeiro. É fundamental para esses profissionais atualizarem os conhecimentos sobre esse assunto, pois a construção de pesquisas é dinâmica e, constantemente, novos conhecimentos são incorporados ou descartados quando ultrapassados. Os objetivos deste artigo de atualização são discorrer sobre o histórico e sintomas da úlcera venosa, assistência de enfermagem, opções de tratamento, prevenção e relação custo/benefício do tratamento tradicional e atual de feridas. O diagnóstico baseia-se em história clínica completa, exame físico com identificação dos sinais e sintomas e exame complementar para analisar estrutura e função do sistema venoso. O tratamento é direcionado para obter cicatrização da úlcera e evitar recidivas. Os avanços no conhecimento sobre o tratamento de feridas têm permitido a integralidade do cuidado, busca pela autonomia do portador de úlcera venosa e ênfase na qualidade da assistência para favorecer a relação custo/benefício.

The Venous Ulcer is a cutaneous wound that appears in the inferior third of the legs. It is associated with the chronic venous insufficiency being it the main cause of ulcer in the inferior members. It can interfere in the quality of life because it causes negative repercussions in the social and economic spheres. The decision for the proper type of treatment and the orientations for the prevention of the wounds demands a nurse?s technical and scientific knowledge. It is fundamental for these professionals to update their knowledge about the subject as the construction of researches is very dynamic and new information is constantly being incorporated or discarded when outdated. The objectives of this healthy updating article are to discuss through the history and the symptoms of the Venous Ulcer, nurse assistance, treatment options, prevention, and relation between cost and benefit of the traditional and current treatment of the wounds. The diagnosis is based on the complete clinical history, a physical exam identifying signals and symptoms, and a complementary exam to analyze the structure and function of the venous system. The treatment is directed to achieve complete healing of the ulcer and avoid future recurrences. The knowledge advances about the treatment of wounds have been permitted the integration of the care, the search for the autonomy of the bearer of Venous Ulcer, and the emphasis in the quality of assistance to benefit the relation between cost and benefit.

Úlcera venosa es una lesión cutánea que acomete el tercio inferior de las piernas y se asocian a la escasez venosa crónica, siendo esto la causa principal de la úlcera de miembros inferiores. Puede interferir con la calidad de la vida, ya que genera repercusiones negativas en la esfera social y económica. La decisión en cuanto al tipo de tratamiento y orientaciones para prevenir heridas exige un conocimiento técnico y científico de una enfermera. Es fundamental que estos profesionales actualicen el conocimiento en este tema, considerando que la construcción de la investigación es dinámica y, constantemente, nuevos conocimientos son incorporados o rechazados cuando son obsoletos. Los objetivos de este artículo de la actualización están al discurrir sobre el histórico y síntomas de la úlcera venosa, la asistencia de enfermera, opciones del tratamiento, prevención y relación costo/beneficio del tratamiento tradicional y actual de heridas. El diagnóstico se basa en la historia clínica completa, examen físico con la identificación de las señales y síntomas, y examen complementar para analizar la estructura y función del sistema venoso. El tratamiento es direccionado para obtener la cicatrización de la úlcera y evitar recidivas. Los avances en el conocimiento sobre tratamiento de heridas han permitido el completo cuidado, busca por la autonomía del portador de la úlcera venosa y énfasis en la calidad de asistencia para favorecer la relación costo/beneficio.