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.

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.

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.

Congenital thoracic vertebral malformations in brachycephalic “screw-tailed” dog breeds: Validation of a human classification scheme and a method of Cobb angle measurement in the assessment of vertebral column deformity

Congenital vertebral malformations are common in brachycephalic “screw-tailed” dog breeds such as French bulldogs, English bulldogs, Boston terriers, and Pugs. Those vertebral malformations disrupt the normal vertebral column anatomy and biomechanics, potentially leading to deformity of the vertebral column and subsequent neurological dysfunction. The initial aim of this work was to study and determine whether the congenital vertebral malformations identified in those breeds could be translated in a radiographic classification scheme used in humans to give an improved classification, with clear and well-defined terminology, with the expectation that this would facilitate future study and clinical management in the veterinary field. Therefore, two observers who were blinded to the neurologic status of the dogs classified each vertebral malformation based on the human classification scheme of McMaster and were able to translate them successfully into a new classification scheme for veterinary use. The following aim was to assess the nature and the impact of vertebral column deformity engendered by those congenital vertebral malformations in the target breeds. As no gold standard exists in veterinary medicine for the calculation of the degree of deformity, it was elected to adapt the human equivalent, termed the Cobb angle, as a potential standard reference tool for use in veterinary practice. For the validation of the Cobb angle measurement method, a computerised semi-automatic technique was used and assessed by multiple independent observers. They observed not only that Kyphosis was the most common vertebral column deformity but also that patients with such deformity were found to be more likely to suffer from neurological deficits, more especially if their Cobb angle was above 35 degrees.

Clínica de animais de companhia

O presente relatório é resultado do estágio curricular, 11º semestre do Mestrado Integrado em Medicina Veterinária. Este decorreu em duas instituições de referência veterinária em Barcelona (Hospital ARS Veterinária e Hospital Veterinari Montjuïc) e permitiu melhorar e integrar os conhecimentos adquiridos ao longo do curso. O relatório é composto por três partes: introdução, que situa temporal e espacialmente, relatório de casuística, que abrange todas as atividades realizadas e assistidas, e monografia. A monografia consiste na descrição de uma afeção neurológica, muito comum em Cavalier king charles spaniel, designada de siringomielia. A monografia inicia-se com uma revisão bibliográfica e termina com o relato de quatro casos clínicos acompanhados no Hospital ARS Veterinário; ABSTRACT: Small animal practice This report is the result of the traineeship in the 11th semester of the Integrated Master degree in Veterinary Medicine. It took place in two veterinary reference institutions in Barcelona (hospital ARS veterinary and hospital Veterinari Montjuïc) and contributed to improve and integrate the knowledge acquired throughout the course. The report consists in three parts: Introduction, which locates temporally and spatially, the sample report covering all activities, and monograph. The monography is the description of a neurological disorder, very common in Cavalier king charles spaniel, designated syringomyelia. The monography begins with a literature review and ends with the description of four clinical cases followed in ARS veterinary hospital.