Síndrome lumbocostovertebral: primer reporte de caso en Argentina / Lumbocostovertebral syndrome: first case report in Argentina

El síndrome lumbocostovertebral se define por la presencia de hernia lumbar, hemivértebras y anomalías costales. El objetivo de este trabajo es describir el primer caso reportado en Argentina. El paciente fue comunicado a la Red Nacional de Anomalías Congénitas de Argentina. Se describe el cuadro clínico, los diagnósticos diferenciales y los posibles mecanismos patogénicos involucrados. Se sugiere que esta entidad sea considerada como una asociación. La hernia lumbar en un recién nacido es un hallazgo infrecuente y debe pesquisarse la presencia de otras anomalías asociadas.

Lumbocostovertebral syndrome is defined by the presence of lumbar hernia, hemivertebrae and costal anomalies. Our aim was to describe the first case reported in Argentina. The patient was reported to the National Registry of Congenital Anomalies of Argentina. The clinical picture, differential diagnoses and possible pathogenic mechanisms involved are described. We suggest considering this as a lumbocostovertebral association. Lumbar hernia in a newborn is an infrequent finding and other associated anomalies should be evaluated.

Conexión anómala de venas pulmonares. Correlación anatomoembriológica / Anomalous pulmonary venous connection

An anatomical-embryological correlation of anomalous venous pulmonary connection is presented to gain an insight of its pathogenesis. The basic publications on embryonic development of the pulmonary veins were analyzed in its two stages: the primary connection of these veins (collectors) with the embryonic systemic veins from which the definitive veins arise. These channels normally disappear once the pulmonary veins sinus is connected with the roof of the left atrium (secondary definitive connection); when the latter does not exist, any of the primitive channels persist and originates the anatomic sites of the anomalous venous pulmonary connection. The embryonic systemic veins are the right cardinal (superior vena cava and azygos vein), the left cardinal (venous coronary sinus and vertical vein) and the umbilical-vitelline (portal vein and ductus venosus). Other mechanisms are discussed such as ectopic origin of the primitive pulmonary vein in the roof of the right atrium and misplaced left of the atrial septum. The atrial septal defect is conditioned by the hemodynamics of this malformation. The knowledge of the pulmonary venous development is of great value in understanding the structure and the anatomic variants of this cardiovascular malformation in its total and partial forms.

Multiple vascular anomalies in the abdomen: a gross anatomical study / Múltiples anomalías vasculares en el abdomen: un estudio anatómico macroscópico

Knowledge of the branching pattern of the abdominal aorta is clinically important for any abdominal surgeon operating on parts of the gut or neighboring structures like the suprarenals, spleen, pancreas, liver, kidneys and ureter. The presence of abnormal inferior phrenic artery associated with aberrant branch from the celiac trunk supplying the pancreas and duodenum is a rare anomaly. In the present case, we observed four branches of the celiac artery i.e. (a) left gastric artery (b) common hepatic artery (c) splenic artery and (d) an aberrant branch, which took a course inferiorly towards the pancreas. The aberrant artery supplied the body of the pancreas and gave a branch which supplied the horizontal part of the duodenum and then entered the transverse mesocolon to supply the hepatic flexure and some portions of the ascending and the transverse colon. The inferior phrenic artery was absent on the left side. Concomitant anomalies of such type are to be kept in mind by the surgeon, while operating cases of carcinoma head of pancreas and performing kidney transplantations.

El conocimiento del patrón de ramificación de la aorta abdominal es clínicamente importante para cualquier cirujano abdominal que opere en partes del intestino o estructuras vecinas, como glándulas suprarenales, bazo, páncreas, hígado, riñones y uréteres. La presencia anormal de la arteria frénica inferior asociada con una rama aberrante originada del tronco celiaco, supliendo el páncreas y duodeno, es una variación anatómica rara. En el presente caso, se observaron cuatro ramas de la arteria celiaca: (a) arteria gástrica izquierda (b) arteria hepática común (c) arteria esplénica y (d) una rama aberrante, que tuvo un curso inferior hacia el páncreas. La arteria aberrante suministraba irrigación al cuerpo del páncreas y daba una rama para la parte horizontal del duodeno para luego entrar en el mesocolon transverso para irrigar la flexura hepática y algunas partes del colon ascendente y transverso. La arteria frénica inferior estaba ausente en el lado izquierdo. Anomalías concomitantes de este tipo deben ser consideradas por el cirujano, en casos de operación de carcinoma de cabeza de páncreas y la realización de trasplante renal.

Teratogenic effect of retinoic acid in swiss mice

PURPOSE: To identify the types of malformations resulting from the administration of retinoic acid (RA) to Swiss mice on different days of pregnancy. METHODS: Twenty-four pregnant Swiss mice were divided into 4 groups of 6 animals each. The experimental groups received a single intraperitoneal injection of RA (70 mg/kg) on gestational days 7, 8 and 9 (D7, D8 and D9), while control animals (C) received only saline solution. RESULTS: Were obtained: exencephaly (C:0; D7:16.1 percent; D8:25.4 percent; D9:0), myelomeningocele (C:0; D7:25.8 percent, D8:30.9 percent, D9:0), spina bifida occulta (C:0, D7:29 percent, D8:41.8 percent, D90), gastroschisis (C:0, D7:6.4 percent D8:5.4 percent, D9:0), omphalocele (C:0, D7:6.4 percent, D8:14.5 percent, D9:0), lower limb alterations (C:0, D7:74.1 percent, D8:80 percent, D9:0), imperforated anus (C:0, D7:100 percent, D8:100 percent, D9:100 percent), and tail agenesis/alteration (C: D7:100 percent, D8:100 percent, D9:100 percent). CONCLUSION: The experimental model using Swiss mice proved to be efficient in the induction of the different types of defects, with the eighth gestational day being the one that most favored the induction of neural tube defect, omphalocele, gastroschisis, lower limb defects, imperforated anus and tail agenesis/alteration. On this basis, this is a useful model for future investigation of neural development and of the formation of the appendicular skeleton.

OBJETIVO: Identificar os tipos de malformação resultantes da administração do ácido retinóico (AR) a camundongos Swiss em diferentes dias gestacionais. MÉTODOS: Foram utilizados 24 camundongos fêmeas, linhagem Swiss, prenhes, divididos em 4 grupos com 6 animais cada. Os grupos experimentais receberam uma única injeção intraperitoneal de AR (70mg/Kg) nos dias gestacionais 7, 8 e 9 (D7, D8 e D9), enquanto que os animais do grupo controle (C) receberam apenas solução salina. RESULTADOS: Foram encontrados: exencefalia (C:0; D7:16.1 por cento; D8:25.4 por cento; D9:0); mielomeningocele (C:0; D7:25.8 por cento; D8:30.9 por cento; D9:0); Espina Bífida Oculta (C:0; D7:29 por cento; D8:41.8 por cento; D90); gastrosquise (C:0; D7:6.4 por cento D8:5.4 por cento; D9:0); onfalocele (C:0; D7:6.4 por cento; D8:14.5 por cento; D9:0); alterações do membro inferior (C:0; D7:74.1 por cento; D8:80 por cento; D9:0); imperfuração anal (C:0; D7:100 por cento; D8:100 por cento; D9:100 por cento) e agenesia/alteração de cauda (C: D7:100 por cento; D8:100 por cento; D9:100 por cento). CONCLUSÕES: O modelo experimental utilizando camundongo Swiss mostrou-se eficiente na indução dos diferentes tipos de defeitos, sendo o oitavo dia gestacional o mais propicio na indução de DFTN, onfalocele, gastrosquise, defeitos de membro inferior, imperfuração anal e agenesia/alteração de cauda, tornando este um modelo útil para futuras investigações do desenvolvimento neural e no processo de formação do esqueleto apendicular.

Partial Trisomy 2q(2q37.3->qter)and Monosomy 7q(7q34->qter) Due to Paternal Reciprocal Translocation 2;7: A Case Report

We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long arm of chromosome 2 with a partial monosomy of distal 7q. Ultrasound at the first trimester had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced translocation: 46,XY,t(2;7)(q37.3;->q34). The unbalanced translocation in the fetus resulted in trisomy for 2q37.3 qter and monosomy for 7q34->qter. Postnatal examination showed that the female abortus had a cleft lip and palate, and mild dysmorphic features. The clinical phenotype was in agreement with previous descriptions and allowed us to propose a fetal phenotype for this chromosomal abnormality.

An autopsy case of Adams-Oliver syndrome

We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28() weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of four extremities was found. Both feet were short and broad. All toes were rudimentary with no nails and fingers were irregularly short. On infantogram, all toe-bones were stubby and rudimentary. The middle and terminal phalanges of 2nd, 3rd +ACY- 5th fingers and the terminal phalange of 4th finger on the right hand were absent. The middle and terminal phalanges of 2nd +ACY- 5th fingers and terminal phalange of 3rd finger were defected on the left hand. His abnormalities were consistent with features of Adams-Oliver syndrome, which has not been reported in Korea.

An autopsy case of Adams-Oliver syndrome

We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28() weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of four extremities was found. Both feet were short and broad. All toes were rudimentary with no nails and fingers were irregularly short. On infantogram, all toe-bones were stubby and rudimentary. The middle and terminal phalanges of 2nd, 3rd +ACY- 5th fingers and the terminal phalange of 4th finger on the right hand were absent. The middle and terminal phalanges of 2nd +ACY- 5th fingers and terminal phalange of 3rd finger were defected on the left hand. His abnormalities were consistent with features of Adams-Oliver syndrome, which has not been reported in Korea.

Efectos del alcoholismo sobre la progenie / Effects of alcoholism on progeny

Se revisaron los efectos adversos que el alto consumo de alcohol tiene sobre el crecimiento y desarrollo fetal. Muchas investigaciones en este campo han sido realizadas durante la preñez, teniendo en mente el síndrome alcohólico fetal (SAF). En este trabajo se presentan evidencias que el daño puede también ser causado por el alcoholismo paterno

Curva de alfa feto proteínas en suero materno de gestantes normales con antecedentes de riesgo / Curve of alpha feto proteins in maternal serum of normal pregnant women with risk factor

Se evalúan 294 determinaciones de A.F.P. en suero materno, de gestantes, en diferentes semanas de embarazo. Las pacientes eran mayores de 35 años y/o tenían antecedentes de genopatías congénitas o cromosómicas en embarazos anteriores; aunque en el actual cursaron con gestaciones normales y tuvieron hijos sanos. Se realiza una curva nacional con estos valores

Síndrome de Poland: estudio descriptivo

El presente es un trabajo descriptivo acerca de 19 pacientes diagnósticados como Síndrome de Poland en el Consultorio de Genética del INSN. Se realizarón visitas domicilarias a 6 pacientes. El cuadro clínico es muy variable, desde ausencia aislada de músculo pectoral mayor hasta asociadas a defectos en : miembro superior, mama, arcos costales, etc. Todos pisilaterales y otras como alteraciones en cintura escapsular posterior, Síndrome de Moebius, dextrocardia, etc. Estas se presentaron más comunmente en varones sin preferencia por ningún lado. La etiología es aún desconocida; pero puede explicarse por la hipótesis vascular llamada secuencia de disrupción del flujo de la arteria subclavia. Los datos obtenidos acerca de los factores de riesgo son insuficientes para obtener conclusiones; pero se reportan en los antecedentes maternos prenatales consumo de anticonceptivos orales, hemorragia del, primer trimestre y embarazo no deseado. La evolución de los pacientes es compatible con una vida normal, con las limitaciones propias de las malformaciones. Su pronóstico es bueno y se considera como una condición esporádica con un riesgo extremadamente bajo de recurrencia familiar

Congenital absence of ductus arteriosus: an autopsy case

Isolated absence of the ductus arteriosus is extremely rare condition although the ductus arteriosus may be hypoplastic or aplastic in association with other aortic arch anomalies. Authors described a case of isolated agenesis of the ductus arteriosus documented by postmortem examination of a newborn infant who died of pneumonia following operation for a large omphalocele. The heart showed ventricular septal defect. However, no other cardiovascular anomalies were associated in this case. There were three vessels that were taking off from the aorta consisted of the right brachiocephalic artery, left common carotid-artery and left subclavian artery. The anteriorly located pulmonary artery was divided into the right and left pulmonary arteries. There was no connection of vessel between the pulmonary artery and the aorta.