Proliferative Defects and Formation of a Double Cortex in Mice Lacking Mltt4 and Cdh2 in the Dorsal Telencephalon

Radial glial cells (RGCs) in the ventricular neuroepithelium of the dorsal telencephalon are the progenitor cells for neocortical projection neurons and astrocytes. Here we showthatthe adherens junction proteins afadin and CDH2 are criticalforthe control of cell proliferation in the dorsal telencephalon and for the formation of its normal laminar structure. Inactivation of afadin or CDH2 in the dorsal telenceph-alon leads to a phenotype resembling subcortical band heterotopia, also known as “double cortex,” a brain malformation in which heterotopic gray matter is interposed between zones of white matter. Adherens junctions between RGCs are disrupted in the mutants, progenitor cells are widely dispersed throughout the developing neocortex, and their proliferation is dramatically increased. Major subtypes of neocortical projection neurons are generated, but their integration into cell layers is disrupted. Our findings suggest that defects in adherens junctions components in mice massively affects progenitor cell proliferation and leads to a double cortex-like phenotype.

Clinical approach of atresia coli in a calf

Atresia coli is a congenital defect with disruption of the intestinal flow. Its etiopathogenesis is still unknown and the prognosis is reserved. This paper describes the case of a one week old Holstein Friesian calf that was referred to the HCVC, and was diagnosed with atresia coli. This confirmation was made by contrast radiography and the lesion was detected in dorsal portion of the spiral colon. A cecostomy was performed followed by a marsupialization of the intestinal cecum to the abdominal wall. After 36 hours of surgery, calf’s state worsens dramatically and for reasons of welfare, it was proceeded to sacrifice. The post-operative recovery is possible, even though the mortality rate is high. As in this case, this mortality rate increases when early diagnosis of atresia coli does not take place and there is peritonitis.

Elaboración y validación de una Escala de Apoyo Profesional para cuidadores de pacientes con esquizofrenia

La presente investigación tuvo como objetivo elaborar y validar una escala para evaluar el apoyo profesional que reciben los cuidadores de pacientes con esquizofrenia. Se conoce bastante acerca de los factores que afectan en la percepción de carga sin haberse explorado si el apoyo profesional que reciben los cuidadores puede también influir. Hasta donde conocemos, no existen instrumentos validados que evalúen esta variable. A partir de una revisión bibliográfica, discusión de grupos focales y entrevistas individuales se elaboraron los ítems de la escala y se validó en una muestra de 100 cuidadores. La escala demostró una buena consistencia interna (α de Cronbach = 0,82) y adecuada estabilidad test-retest al cabo de 4 semanas (r = 0,91).

Anomalias dentárias em crianças com fissura palatina ou labial

As anomalias dentárias podem ocorrer como resultado de fatores genéticos e ambientais. Estas são geralmente causadas por defeitos em genes específicos, no entanto, eventos pré e pós-natais têm também sido implicados em diferentes tipos de anomalias dentárias. Quando comparados com a população geral, os indivíduos que apresentam fenda labial (FL) e fenda palatina (FP) demonstraram ter uma maior prevalência de anomalias dentárias, tais como variações de número, posição e tamanho, que na sua maioria se localizavam na área do defeito da fenda. Com este trabalho, pretendeu-se então, realizar uma revisão narrativa sobre as várias anomalias dentárias que podem estar associadas a FL ou FP, a sua prevalência e as opções terapêuticas recomendadas. Durante os meses de Dezembro de 2012 e Janeiro de 2013 foi realizada uma pesquisa bibliográfica na base de dados Pubmed atendendo às seguintes palavras chave “dental anomalies” AND “cleft lip and palate”; “oral health” AND “cleft lip and palate”. Na pesquisa empregaram-se os seguintes limites, artigos publicados nos últimos cinco anos, estudos em humanos, abstract disponível e artigos disponíveis em português, inglês e espanhol. Nesta pesquisa obteve-se um total de 50 artigos. Os artigos encontrados foram seleccionados primeiramente pelo título, seguidamente pela leitura cuidadosa dos abstracts e, finalmente, do artigo por inteiro, daí resultando um total de 17 artigos. Para o melhor entendimento do tema a ser desenvolvido, foram ainda considerados artigos de referência publicados em anos anteriores e livros de Odontopediatria e Genética Orofacial. As crianças com FL ou FP apresentam maior prevalência de anomalias dentárias de forma, número, posição, erupção e estrutura dentária, com localização privilegiada na área do defeito da fenda. Os pacientes portadores desta malformação congénita necessitam de intervenção precoce e acompanhamento continuado ao longo de toda a infância e adolescência, por uma equipa multidisciplinar que deverá incluir o pediatra, cirurgião maxilofacial, médico dentista, terapeuta da fala, psicólogo e cirurgião plástico.

Extracranial association of arteriovenous and venous malformations. Case report

Association of multiple vascular malformations of the face is a rare condition. An arteriovenous malformation (AVM) with a venous malformation as the draining vein is also a rarity. We report a case of extracranial mixed vascular malformations that deformed the normal architecture of the lower face. Removal of the AVM was followed by stability of the jaw and tongue malformation, indicating the AVM used the venous malformation as its draining vein. This approach spared the patient severe cosmetic and functional sequelae.

Monoamniotic twins discordant for body stalk anomaly

Body stalk anomaly is a rare malformation. This anomaly in monozygotic twins is extremely unusual. We describe a case of monoamniotic pregnancy discordant for body stalk anomaly diagnosed at 11 weeks. Ultrasound showed a fetus with a large anterior abdominal wall defect, anomaly of the spine and no evidence of lower extremities and other with a normal morphology. As far as our concern, only three monoamniotic pregnancies discordant for this malformation were reported. Our case represents the fourth reported monoamniotic pregnancy discordant for body stalk anomaly with diagnosis made by ultrasound and the second diagnosed in the first trimester.

Elaboración y validación de una Escala de Apoyo Profesional para cuidadores de pacientes con esquizofrenia

Introducción: La presente investigación tuvo como objetivo elaborar y validar una escala para evaluar el apoyo profesional que reciben los cuidadores de pacientes con esquizofrenia. Se conoce bastante acerca de los factores que afectan en la percepción de carga sin haberse explorado si el apoyo profesional que reciben los cuidadores puede también influir. Hasta donde conocemos, no existen instrumentos validados que evalúen esta variable. Material y método: A partir de una revisión bibliográfica, discusión de grupos focales y entrevistas individuales se elaboraron los ítems de la escala y se validó en una muestra de 100 cuidadores. Resultados: La escala demostró una buena consistencia interna (α de Cronbach = 0,82) y adecuada estabilidad test-retest al cabo de 4 semanas (r = 0,91). Conclusiones: La Escala de Apoyo Profesional (EAP-C) es adecuada para evaluar el grado de apoyo profesional que perciben los cuidadores. Además, puede ser útil en la evaluación de la calidad asistencial que reciben los cuidadores de pacientes esquizofrénicos.

Proliferative Defects and Formation of a Double Cortex in Mice Lacking Mltt4 and Cdh2 in the Dorsal Telencephalon

Radial glial cells (RGCs) in the ventricular neuroepithelium of the dorsal telencephalon are the progenitor cells for neocortical projection neurons and astrocytes. Here we showthatthe adherens junction proteins afadin and CDH2 are criticalforthe control of cell proliferation in the dorsal telencephalon and for the formation of its normal laminar structure. Inactivation of afadin or CDH2 in the dorsal telenceph-alon leads to a phenotype resembling subcortical band heterotopia, also known as “double cortex,” a brain malformation in which heterotopic gray matter is interposed between zones of white matter. Adherens junctions between RGCs are disrupted in the mutants, progenitor cells are widely dispersed throughout the developing neocortex, and their proliferation is dramatically increased. Major subtypes of neocortical projection neurons are generated, but their integration into cell layers is disrupted. Our findings suggest that defects in adherens junctions components in mice massively affects progenitor cell proliferation and leads to a double cortex-like phenotype.

Chemotaxonomic studies on Schwenckia americana LINN.

This study investigated the chemotaxonomic studies on Schwenckia americana Linn., a member of the family Solanaceae predominantly found mostly in low grass fields, Nigeria. The habit is annual herbaceous weed with slender stem characterized with free branching and growing up to 45cm in height.They are used mainly as medicine. The leaves are simple, entire, elliptic to ovate in shape, smooth, variable, petiolate and larger at the lower region of stem and narrowing to smaller almost sessile and oblanceolate towards the apical regions which are alternately arranged and acrescently structured from the top to the base upto 3.7 ± 1.5cm long and 2.4±0.6cm wide. The inflorescence is a panicle of 15 or more flowers occurring at stem terminal.The flowers are whitish tubular structures measuring up to 1.0±0.2cm in length and 0.1cm in diameter. The petals are whitish up to 0.9 ±0.2cm in length and sepals are greenish up to 0.1cm in length. The berry fruit is greenish when unripe and pale yellowish when ripe up to 0.3±0.1cm in diameter. The seeds are blackish and spherical or triangular shaped with rough edges measuring up to 0.1cm in diameter. The epidermal studies reveal anomocytic stomata whereas the trichomes are simple uniseriate forms wth bulge heads. The anatomy of mid-ribs and petioles showed bicollateral vascular systems. There are three vascular traces and the node is unilacunar. The petioles have 2 rib traces at primary growth phase. At secondary growth phase, the mid-rib and petiole revealed vascular arcs and the stem has a ring of open vascular system. The cytological studies showed a diploid chromosome number of 2n = 24 and n = 12 for the haploids. Alkaloids, saponins, tannins, phlobatannins, flavonoids, combined anthraquinones, free anthraquinones and cardiac glycosides are present.

Cayler Cardio-Facial Syndrome: An Uncommon Condition in Newborns

Introduction: Cayler cardio-facial syndrome is a rare syndrome associated with asymmetric crying faces with congenital heart disease. We report a newborn that was diagnosed as case of Cayler Cardio-facial syndrome based on clinical features and was confirmed with FISH analysis. Case Presentation: A term male baby, born to non-consanguineous couple through normal vaginal delivery was diagnosed to have asymmetric crying faces with deviation of angle of mouth to left side at the time of birth. The baby had normal faces while sleeping or silent. Mother was known case of hypothyroidism and was on treatment. Baby was diagnosed as case of Cayler Cardio-facial Syndrome and was investigated with echocardiogram, brain ultrasound, total body X-ray examination, X-ray of cervico-thoracic vertebral column and fundus examination. Echocardiogram showed muscular VSD, brain ultrasound was normal and fundus examination showed tortuous retinal vessels. Whole body X-ray and lateral X-ray of cervico-thoracic vertebral column were not suggestive of any skeletal abnormalities. The other associated malformation was right ear microtia. Baby FISH karyotype analysis showed deletion of 22q11.2 deletion. Baby was discharged and now on follow-up. Conclusions: Cayler syndrome is a rare syndrome which must be suspected if a baby has asymmetrical cry pattern and normal facies when baby sleeps. Patient must be evaluated with echocardiography to find out associated cardiac malformations. These infants should undergo FISH analysis for 22q11.2 deletion syndrome.

Características de las malformaciones congénitas en recién nacidos del Hospital Vicente Corral Moscoso, 2010-2014

Objetivo Determinar la prevalencia de las malformaciones congénitas y las características de las madres y de los recién nacidos malformados en el Hospital Vicente Corral Moscoso. Metodología Se realizó un estudio de tipo descriptivo (se determinó la prevalencia por año), se revisaron las historias clínicas de las madres con recién nacidos entre el periodo del 2010 al 2014. Para recolectar la información se empleó un formulario pre elaborado, los datos se agruparon según la clasificación del CIE-10 y se tabularan usando Microsoft Excel. Para el análisis de los datos se utilizó el software estadístico SPSS versión 15. Se describieron las variables del estudio de acuerdo a las medidas estadísticas apropiadas. Resultados La prevalencia de las malformaciones congénitas fue de 1.70 por cada 100 recién nacidos. Las mujeres entre 20 a 24 años, presentaron el mayor porcentaje de recién nacidos malformados con un 34.95%. Los recién nacidos malformados fueron mayoritariamente del sexo masculino con 53.83%. El grupo de malformación más frecuente fueron las malformaciones y deformidades congénitas del sistema osteomuscular con 18.88%, de las cuales la gastrosquisis fue la más frecuente, representada por el 4.85%. El síndrome polimalformativo fue el tipo de malformación congénita con el mayor porcentaje con un 10.71%. Conclusiones El presente estudio revela que la prevalencia encontrada de recién nacidos con malformaciones congénitas, fue similar a investigaciones previas a nivel regional y local. Se incluyeron únicamente las malformaciones que constituyen alteraciones morfológicas evidentes, encontrándose una mayor frecuencia del síndrome polimalformativo

Clinical aspects associated with syndromic forms of Orofacial Clefts in a Colombian population

Objectives: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nestedseries of cases. Methods: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. Results: The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. Conclusions: These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out.

Clinical aspects associated with syndromic forms of Orofacial Clefts in a Colombian population

Objectives: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases. Methods: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. Results: The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. Conclusions: These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out.

L'activité tonique diaphragmatique chez les enfants avec et sans support respiratoire

Introduction : Les nourrissons, vu la grande compliance de leur cage thoracique, doivent maintenir activement leur volume pulmonaire de fin d’expiration (VPFE). Ceci se fait par interruption précoce de l’expiration, et par le freinage expiratoire au niveau laryngé et par la persistance de la contraction des muscles inspiratoires. Chez les nourrissons ventilés mécaniquement, notre équipe a montré que le diaphragme est activé jusqu’à la fin de l’expiration (activité tonique). Il n’est pas clair si cette activité tonique diaphragmatique compense pour l’absence de freinage laryngé liée à l’intubation endotrachéale. Objectif : Notre objectif est de déterminer si l’activité tonique diaphragmatique persiste après l’extubation chez les nourrissons et si elle peut être observée chez les enfants plus âgés. Méthode : Ceci est une étude observationnelle longitudinale prospective de patients âgés de 1 semaine à 18 ans admis aux soins intensifs pédiatriques (SIP), ventilés mécaniquement pour >24 heures et avec consentement parental. L’activité électrique du diaphragme (AEdi) a été enregistrée à l’aide d’une sonde nasogastrique spécifique à 4 moments durant le séjour aux SIP : en phase aigüe, pré et post-extubation et au congé. L’AEdi a été analysée de façon semi-automatique. L’AEdi tonique a été définie comme l’AEdi durant le dernier quartile de l’expiration. Résultats : 55 patients avec un âge médian de 10 mois (écart interquartile: 1-48) ont été étudiés. Chez les nourrissons (<1an, n=28), l’AEdi tonique en pourcentage de l’activité inspiratoire était de 48% (30-56) en phase aigüe, 38% (25-44) pré-extubation, 28% (17-42) post-extubation et 33% (22-43) au congé des SIP (p<0.05, ANOVA, avec différence significative entre enregistrements 1 et 3-4). Aucun changement significatif n’a été observé pré et post-extubation. L’AEdi tonique chez les patients plus âgés (>1an, n=27) était négligeable en phases de respiration normale (0.6mcv). Par contre, une AEdi tonique significative (>1mcv et >10%) a été observée à au moins un moment durant le séjour de 10 (37%) patients. La bronchiolite est le seul facteur indépendant associé à l’activité tonique diaphragmatique. Conclusion : Chez les nourrissons, l’AEdi tonique persiste après l’extubation et elle peut être réactivée dans certaines situations pathologiques chez les enfants plus âgés. Elle semble être un indicateur de l’effort du patient pour maintenir son VPFE. D’autres études devraient être menées afin de déterminer si la surveillance de l’AEdi tonique pourrait faciliter la détection de situations de ventilation inappropriée.

L'activité tonique diaphragmatique chez les enfants avec et sans support respiratoire

Introduction : Les nourrissons, vu la grande compliance de leur cage thoracique, doivent maintenir activement leur volume pulmonaire de fin d’expiration (VPFE). Ceci se fait par interruption précoce de l’expiration, et par le freinage expiratoire au niveau laryngé et par la persistance de la contraction des muscles inspiratoires. Chez les nourrissons ventilés mécaniquement, notre équipe a montré que le diaphragme est activé jusqu’à la fin de l’expiration (activité tonique). Il n’est pas clair si cette activité tonique diaphragmatique compense pour l’absence de freinage laryngé liée à l’intubation endotrachéale. Objectif : Notre objectif est de déterminer si l’activité tonique diaphragmatique persiste après l’extubation chez les nourrissons et si elle peut être observée chez les enfants plus âgés. Méthode : Ceci est une étude observationnelle longitudinale prospective de patients âgés de 1 semaine à 18 ans admis aux soins intensifs pédiatriques (SIP), ventilés mécaniquement pour >24 heures et avec consentement parental. L’activité électrique du diaphragme (AEdi) a été enregistrée à l’aide d’une sonde nasogastrique spécifique à 4 moments durant le séjour aux SIP : en phase aigüe, pré et post-extubation et au congé. L’AEdi a été analysée de façon semi-automatique. L’AEdi tonique a été définie comme l’AEdi durant le dernier quartile de l’expiration. Résultats : 55 patients avec un âge médian de 10 mois (écart interquartile: 1-48) ont été étudiés. Chez les nourrissons (<1an, n=28), l’AEdi tonique en pourcentage de l’activité inspiratoire était de 48% (30-56) en phase aigüe, 38% (25-44) pré-extubation, 28% (17-42) post-extubation et 33% (22-43) au congé des SIP (p<0.05, ANOVA, avec différence significative entre enregistrements 1 et 3-4). Aucun changement significatif n’a été observé pré et post-extubation. L’AEdi tonique chez les patients plus âgés (>1an, n=27) était négligeable en phases de respiration normale (0.6mcv). Par contre, une AEdi tonique significative (>1mcv et >10%) a été observée à au moins un moment durant le séjour de 10 (37%) patients. La bronchiolite est le seul facteur indépendant associé à l’activité tonique diaphragmatique. Conclusion : Chez les nourrissons, l’AEdi tonique persiste après l’extubation et elle peut être réactivée dans certaines situations pathologiques chez les enfants plus âgés. Elle semble être un indicateur de l’effort du patient pour maintenir son VPFE. D’autres études devraient être menées afin de déterminer si la surveillance de l’AEdi tonique pourrait faciliter la détection de situations de ventilation inappropriée.