Bloqueo caudal más anestesia general balanceada en un paciente con pentalogía de Cantrell, presentación de un caso clínico / Caudal block plus inhaled general anesthesia in a patient with pentalogy of Cantrell, presentation of a clinical case

The pentalogy of Cantrell is a disorder characterized by congenital abnormalities in the abdominal wall, lower sternum, anterior diaphragm, diaphragmatic pericardium, and cardiac anomalies. It is a rare disease with 250 cases registered around the world. The anesthetic implications will require a specialized management given the ventilatory mechanics and cardiac function which are compromised by the disease in the newborn. We present the case of a female patient with pentalogy of Cantrell without prenatal diagnosis, who had an operative procedure to correct patent ductus arteriosus and abdominal mesh placement under balanced general anesthesia with sevoflurane and fentanyl plus caudal block. This case is reported to provide our experience in the anesthetic management of this type of patients.

La pentalogía de Cantrell es una enfermedad caracterizada por anormalidades congénitas de la pared abdominal supraumbilical, esternón inferior, diafragma, pericardio diafragmático y anomalías cardiacas. Se trata de una enfermedad rara con 250 casos registrados alrededor del mundo. Las implicaciones anestésicas requieren de un manejo especializado debido a la mecánica ventilatoria y función cardíaca que se encuentran comprometidas en el recién nacido. Se presenta el caso de una recién nacida portadora de pentalogía de Cantrell, no diagnosticada prenatalmente, quien fue sometida a corrección de ductus arterioso persistente y colocación de malla abdominal bajo anestesia general balanceada con sevofluorano y fentanilo más bloqueo caudal. Se reporta el presente caso para brindar nuestra experiencia en el manejo anestésico de este tipo de pacientes.

Malrotación intestinal: a propósito de un caso / Intestinal malrotation: a case report

Existen múltiples patologías del abdomen que pueden ser diagnosticadas por parte del especialista en Diagnóstico por Imágenes; entre ellas, la malrotación intestinal es un hallazgo generalmente incidental. El médico imagenólogo debe ser capaz de reconocer los signos de la malrotación intestinal, al tratarse de una entidad patológica con complicaciones graves, como el vólvulo de intestinal. Para el diagnóstico, es clave su sospecha, así como las variantes de la normalidad que pueden conducir a un diagnóstico erróneo.

There are many diseases of the abdomen that can be diagnosed by the specialist in diagnostic imaging, including the intestinal malrotation is a finding usually incidental. The doctor specialist imaging must be able to recognize the signs of intestinal malrotation is a pathological entity, with serious complications, such as intestinal volvulus. For the diagnosis, it is the key to your suspicion, as well as the variants that can lead to a false diagnosis.

Dysphasia due to Oral Anomaly / 대한연하장애학회지

Dysphasia related to oral anomaly is a common situation in oral and maxillofacial surgery. The etiology of oral anomalies causing dysphasia can be divided into congenital and acquired disease. Congenital diseases include teratoma or benign tumors and congenital defects such as cleft lip and palate. Benign tumors include cystic hygroma in the neck and hemangioma in the tongue. Certain syndromes with macroglossia and micrognathia are also related to difficulty in swallowing. The three common syndromes are Pierre-Robin syndrome, Beckwith-Widermann syndrome and ectodermal dysplasia. Taken together, these congenital diseases require a multi-discipline approach to obtain optimal results. Representative disease of acquired dysphasia is the oral cavity cancer. Cancer ablation results in tissue defect and decreased motor function. Free flap reconstruction is the choice of treatment following oral cavity caner operation; however, dysphasia after cancer operation is inevitable. In this review article, the full scopes of oral anomaly associated with dysphasia were classified and treatment was suggested.

A case report of cerebrotendinous xanthomatosis with novel mutations in CYP27A1 gene / 临床儿科杂志

Objective To discuss the clinical features,hepatic pathology,and prognosis of cerebrotendinous xanthomatosis in a child caused by CYP27A1 mutation.Methods Clinical features of a child with cerebrotendinous xanthomatosis were retrospectively analyzed,and the related literatures viewed.Results The child had different degrees of cholestasis,hepatomegaly,elevated transaminases,normal-glutamyl GGT(γ-GT) and normal total bile acid.The hepatic pathology showed intrahepatic cholestasis,inflammatory cell infiltration and expansion and hyperplasia of bile capillary.Gene testing found heterozygous mutations of CYP27A 1 (c.1263+ l G＞A/c.1477-3C＞G) in the child.The variant of c.1477-3C＞G is a novel mutation.Conclusions The possibility of bile acid synthesis disorder should be considered when infants have cholestasis,elevated transaminase,hepatomegaly,and normal or reduced γ-GT and total bile acid.Gene testing should be used for early diagnosis,treatment to improve prognosis.

Síndrome de Klippel-Trenaunay-Weber en una gestante / Klippel-Trenaunay-Weber syndrome in a pregnant woma

El síndrome de Klippel-Trenaunay-Weber o síndrome de angiosteohipertrofia es una enfermedad congénita rara, caracterizada por la presencia de un nevo en el miembro derecho y grandes venas varicosas. Se presenta el caso clínico de una gestante con dicho síndrome, a quien se le realizó la operación cesárea a las 37,4 semanas, sin complicaciones peroperatorias, en el Hospital General Docente Dr Juan Bruno Zayas Alfonso de Santiago de Cuba. Luego de un examen clínico exhaustivo al recién nacido, se determinó que no presentaba las manifestaciones clínicas de esta afección. Se obtuvo el consentimiento de la paciente para la presentación del caso y la toma de imágenes.

The syndrome Klippel-Trenaunay-Weber syndrome or angiosteo hypertrophy syndrome is a strange congenital disease characterized by the presence of a nevus in the right member and big varicose veins. The case report of a pregnant woman with this syndrome is presented, who underwent the cesarean section at 37.4 weeks, without perioperative complications, in Dr. Juan Bruno Zayas Alfonso Teaching General Hospital in Santiago de Cuba. After an exhaustive clinical exam to the newborn, it was determined that he didn't present the clinical manifestations of this disorder. The patient's consent was obtained for the case presentation and images taking.

Epidermólisis ampollosa congénita: a propósito de un caso / Congenital epidermolysis bullosa: report of a case

Resumen: La Epidermólisis ampollosa es una enfermedad hereditaria, crónica, incurable y de baja prevalencia. Se caracteriza por la aparición de ampollas luego de traumatismos mínimos, de manifestación predominantemente cutánea y de difícil manejo. Interfiere en la calidad de vida del paciente requiriendo un abordaje terapéutico multi-disciplinario. Presentamos a continuación un caso clínico, con el objetivo de describir manifestaciones clínicas, el enfoque diagnóstico y las posibilidades terapéuticas actuales para el abordaje integral de los pacientes que padecen esta enfermedad.

Abstract: Epidermolysis bullosa is an hereditary, chronic,disease, incurable and with very low prevalence. It is characterized by blisters after minor trauma, with predominantly cutaneous manifestation and difficult manage. Interferes with the quality of life of patients requiring a multi-disciplinary therapeutic approach. We present a clinical case, in order to describe clinical manifestations, current diagnostic approach and therapeutic possibilities for the comprehensive management of patients with this disease.

Evolución de paciente pediátrico con Síndrome Alagille. Reporte de caso / Evolution of a pediatric patient with Alagille’s Syndrome. Report of a case

El síndrome de Alagille es una enfermedad congénita y poco frecuente, se transmite de forma autosómica dominante, con expresividad variable. Se caracteriza por presentar colestasis, anomalías vertebrales y oculares, cardiopatía congénita y dismorfias faciales. El pronóstico de este síndrome es variable, depende fundamentalmente de la afectación hepática y los defectos cardiovasculares asociados. Se presentó el caso de una paciente con diagnóstico de síndrome de Alagille con evolución estable.

The Alagille’s syndrome is a few frequent congenital disease; it is transmitted in a dominant autosomal way, with variable expressivity. It characterizes for presenting cholestasis, vertebral and ocular anomalies, congenital cardiopathies and facial dysmorphias. The prognosis of this syndrome is variable, mainly depending of the hepatic injury and the associated cardiovascular defects. We presented the case of a patient with the diagnosis of Alagille’s Syndrome and stable evolution.

Obstrução intestinal congênita em cão por aderência de alça em osso púbico / Canine congenital intestinal obstruction due to a band of small bowel in the pubic bone

Atendeu-se uma cadela, sem raça definida, com aproximadamente cinco meses de idade, apresentando anamnese com queixa de apatia e hiporexia associadas a vômitos e emagrecimento progressivo com início incerto. Ao exame físico era evidente distensão abdominal com dilatação intestinal e aumento de peristaltismo. O animal apresentava-se emaciado e subdesenvolvido, com acentuado grau de desidratação, pulso filiforme e nível de consciência reduzido. Minutos após o início do atendimento a cadela foi a óbito. À necropsia, pôde-se observar um segmento do intestino delgado atravessando o púbis e com lúmen reduzido. Tal apresentação se faz relevante por se tratar de um caso nunca antes descrito na literatura veterinária.

A five-month-old mongrel bitch was presented with history of apathy and hyporexia in addition to vomit and progressive weight loss of uncertain beginning. At the physical examination, abdominal distention with intestinal dilatation and increased peristaltic movements was evident. The animal also was emaciated, highly dehydrated, with filiform pulse and reduced conscience level. It died a few minutes after the physical exam. At the necropsy, a small bowel segment could be observed crossing the pubic bone causing obstruction due to a reduction in the lumen at the point of adhesion. This presentation has an important relevance because such case has never been reported before in the veterinary medical practice.

Factors associated to infection by Toxoplasma gondii in pregnant women attended in Basic Health Units in the city of Rolândia, Paraná, Brazil / Fatores associados à infecção por Toxoplasma gondii em gestantes atendidas nas Unidades Básicas de Saúde do município de Rolândia, Paraná, Brasil

The aim of the present work was to determine the prevalence of IgG and IgM anti-Toxoplasma gondii antibodies and the factors associated to the infection in pregnant women attended in Basic Health Units in Rolândia, Paraná, Brazil. The sample was divided in two groups: group I (320 pregnant women who were analyzed from July 2007 to February 2008) and group II (287 pregnant women who were analyzed from March to October 2008). In group I, it was found 53.1 percent of pregnant women with IgG reactive and IgM non-reactive, 1.9 percent with IgG and IgM reactive, 0.3 percent with IgG non-reactive and IgM reactive and 44.7 percent with IgG and IgM non-reactive. In group II, it was found 55.1 percent with IgG reactive and IgM non-reactive and 44.9 percent with IgG and IgM non-reactive. The variables associated to the presence of IgG antibodies were: residence in rural areas, pregnant women between 35-40 years old, low educational level, low family income, more than one pregnancy, drinking water which does not originate from the public water supply system and the habit of handling soil or sand. Guidance on primary prevention measures and the quarterly serological monitoring of the pregnant women in the risk group are important measures to prevent congenital toxoplasmosis.

O objetivo deste trabalho foi determinar a prevalência de anticorpos IgG e IgM anti-Toxoplasma gondii e os fatores associados à infecção em gestantes atendidas nas Unidades Básicas de Saúde de Rolândia, Paraná, Brasil. A amostra foi dividida em dois grupos: grupo I (320 gestantes, analisadas entre julho de 2007 e fevereiro de 2008) e grupo II (287 gestantes, analisadas de março a outubro de 2008). No grupo I, foram encontrados 53,1 por cento de gestantes IgG reagente e IgM não reagente, 1,9 por cento de IgG e IgM reagentes, 0,3 por cento de IgG não reagente e IgM reagente e 44,7 por cento de IgG e IgM não reagentes. No grupo II foram 55,1 por cento de IgG reagente e IgM não reagente e 44,9 por cento de IgG e IgM não reagentes. As variáveis associadas à infecção foram: residência em área rural, gestantes entre 35-40 anos de idade, baixa escolaridade, baixa renda familiar, mais de uma gravidez, consumo de água não proveniente do sistema de abastecimento público de água e hábito de manipular terra ou areia. As orientações sobre medidas de prevenção primária e o acompanhamento sorológico trimestral das gestantes no grupo de risco são medidas importantes para prevenir a toxoplasmose congênita.

The general anesthesia experience of deletion 8p syndrome patient: A case report / 대한마취과학회지

A deletion 8p syndrome is a relatively uncommon congenital disease characterized by mental retardation associated with multiple malformation that make anesthetic management a challenge. Anesthetic management of a patient with deletion 8p syndrome may pose a serious problem mainly from difficult tracheal intubation, aspiration complication and cardiac malformation. We experienced a case of 10 year-old boy with a deletion 8p syndrome who underwent appendectomy under the general anesthesia. Intubation was performed by video glidescope after unsuccessful attempt with Macintosh laryngoscope. A high arched palate, short neck, poor patient cooperation due to mental retardation and occasional autistic behaviour made airway management difficult. This case should alert anesthesiologists to the greater difficulties of managing patients with deletion 8p syndrome.

Significance of multidisciplinary counseling on prospective parents with fetus of congenital disease / 대한산부인과학회지

OBJECTIVE: This exploratory study was undertaken to analyze the anxiety of parents of prenatally diagnosed fetal congenital disease and satisfaction after the multidisciplinary counseling. METHODS: The study included 32 prospective parents of antenatally diagnosed congenital disease fetus who received multidisciplinary counseling at The Catholic Congenital Disease Center (CCDC) for the period from May, 2009 through March, 2010. The Korean version of the Spielberger State-Trait Anxiety Inventory (STAI) was utilized to assess parental anxiety. Categories of satisfaction survey were classified into accessibility, professionalism, empathy, recoverability, satisfaction, and expectation after counseling. RESULTS: The mean time and number of medical professionals for each counseling were 58.0+/-36.9 min and 3.5+/-1.1 persons. Most common congenital diseases were cardiovascular (36.1%) and urogenital diseases (25.0%). STAI scores were significantly decreased after than before counseling (43.5+/-5.9 vs 36.9+/-6.0, P=0.0007). STAI scores after counseling showed significant decrease in prospective mothers who were nulliparous (P=0.0005), less than 35 years old (P=0.0014), had religion (P=0.0014) and counseled more than 40 minutes (P=0.0027). The mean rate of positive satisfactory response about multidisciplinary counseling was 85.6% in satisfaction survey. CONCLUSION: This study provides evidence of the positive impact on the prospective parental anxiety of a multidisciplinary counseling in prenatal management of fetal congenital diseases.

Dysmorphologic appearance with disease in child / 国际儿科学杂志

Some genetic or congenital disorders caused by certain drugs, usually accompanied by a variety of craniofacial,skin,limb deformity. Early detection of these malformations can provide effective help to clinical diagnosis. This review, therefore, provides a brief discussion of craniofacial, skin, and limb anomalies and features which are particularly helpful clues to common syndromes,metabolic disorders,or autism syndromes.

Gastrosquisis en un hospital de tercer nivel de la ciudad de Cali, Colombia durante el período marzo 2004 a febrero 2006 / Gastroschisis at hospital of third level in Cali, Colombia, from March 2004 to February 2006

Introducción: La gastrosquisis es un defecto congénito de la pared abdominal, cuya prevalencia oscila entre 0.6 y 2.7 por 10,000 nacimientos. En los últimos años se ha encontrado un aumento de la prevalencia, asociado con una creciente proporción de madres adolescentes y a nuevos factores etiológicos como exposición a teratógenos específicos y deficiencias nutricionales. Objetivos del estudio: Determinar la prevalencia de los recién nacidos con gastrosquisis nacidos en Hospital Universitario del Valle de Cali, Colombia, en un período de dos años y evaluar la asociación entre factores demograficos de los padres y la ocurrencia de gastrosquisis. Metodología: Se realizó un estudio observacional descriptivo, tomando como universo todos los recién nacidos en el Hospital Universitario del Valle entre marzo de 2004 y febrero de 2006, para determinar la ocurrencia de gastrosquisis. Resultados: Durante el tiempo del estudio, nacieron 16 ni±os con gastrosquisis de un total de 14,452 nacimientos, lo que representa una prevalencia de 11.1 por 10,000 nacimientos, de 7.8 en 10,000 nacimientos vivos y de 103.5 en nacidos muertos. Se encontró un promedio de edad materna de 18.3. Conclusión: La prevalencia de gastrosquisis en el Hospital Universitario es 11.1 por 10,000 nacimientos, siendo una de las mas altas informadas en la literatura. Se encontró en la mayoría de las madres de bebés con gastrosquisis materna en la segunda década y ser el primer embarazo.

Introduction: Gastroschisis is a congenital malformation in the abdominal wall, whose prevalence ranges between 0.66 and 2.7 per 10,000 births. In the last years has been detected an increase of the prevalence has been detected in recent years. This is associated to an increasing proportion of teenage mothers and to new etiologic factors like exposition to specific teratogens and nutritional deficiencies. Objectives: To determine the prevalence of newborns with gastroschisis born at Hospital Universitario del Valle (HUV) in Cali, during a two-year period and to evaluate the association between demographic factors of the parents and the occurrence of gastrosquisis. Methods: An observational and descriptive study was made, considering as universe all newborns at Hospital Universitario del Valle in Cali, Colombia, between March 2004 and February 2006, to determine the occurrence of newborns with gastroschisis. Results: During the time of the study, 16 children were born with gastrosquisis from a total of 14,452 births, representing a prevalence of 11.1 per 10,000 births, of 7.8 per 10,000 live newborns and of 103.5 in dead newborns. We found the mothersÆ average age at 18.3. In August 2005 at Hospital Universitario del Valle there were 611 births of which 5 were born with gastroschisis, showing a prevalence of 81.8 per 10,000 and 1 per 122 newborns. Conclusions: The prevalence of gastrosquisis at HUV of 11.1 per 10,000 births is one of the highest reported in the literature. Maternal age under 20 years and being the first pregnancy were found in most of the mothers of newborns with gastroschisis. 5 cases of gastroschisis in August 2005 at HUV suggest a cluster for this malformation.

Factores etiológicos relacionados al pronóstico de la epilepsia en niños con síndrome de Möebius / Etiological factors related to prognosis of epilepsy in children with möebius syndrome

Introducción. El síndrome de Möebius (SM) es una enfermedad congénita, sin etiología determinada, multifactorial, se considera rara y se caracteriza por la afección del VI y VII pares craneales o sus núcleos, es unilateral o bilateral, teniendo como manifestación clínica diplejía facial con limitación de la mirada lateral. Se describe en literatura más reciente la afección de otros pares craneales. Hasta 90% de los casos tienen inteligencia normal. Objetivo: determinar las características de las crisis convulsivas de los pacientes con SM y epilepsia. Material y métodos. Estudio descriptivo, analítico y retrolectivo, en el cual se revisaron los casos registrados con diagnóstico de SM en el Hospital Infantil de México Federico Gómez, en el período de 1994-2004, analizando las diferentes variables y revisando las causas de la epilepsia en estos pacientes. Resultados. De 31 pacientes con SM, se encontraron 8 con epilepsia (25.8%): 2 casos (6.4%) con epilepsia parcial, 4 (12.9%) con epilepsia generalizada, 1 caso (3.22%) con crisis febriles plus y 1 caso (3.22%) con espasmos infantil. En 7 de los 8 casos de epilepsia, el EEG fue anormal, así como la neuro-imagen donde se observaron múltiples anormalidades. Conclusiones. La epilepsia en pacientes con SM depende más de la asociación de éste con otras enfermedades que del síndrome en sí, por lo cual el riesgo de epilepsia en estos pacientes está asociado a la etiología acompañante del SM.

Introduction. Möebius syndrome (MS) is a rare congenital disease of multifactorial etiology; VI and VII cranial nerves or their nucleus are involved in its clinical presentation, with facial diplegia and inability to abduct the eyes beyond the midline; other cranial nerves are also involved. As far as 90% of patients have normal intelligence. Objective: to describe the characteristics of seizure in children with MS and epilepsy. Material and methods. A descriptive retrolective study of children with MS attended in the Hospital Infantil de Mexico Federico Gomez from 1994 to 2004. Clinical characteristics of seizures were determined. Results. Thirty one patients with MS were analyzed; of these, 8 had epilepsy (25.8%), 2 cases (6.4%) partial epilepsy, 4 cases (12.9%) generalized epilepsy; one case (3.22%) with epilepsy plus and 1 case (3.22%) with infantile spasms. In 7 of 8 cases of epilepsy, the EEG was abnormal and there were multiple abnormalities in neuroimaging. Conclusion. Epilepsy in children with MS is probably determined by other associated diseases, it is not the result of MS itself.

Current Status and Future Clinical Applications of Array.based Comparative Genomic Hybridization

No abstract available.

The Relationship between PaCO2 - PETCO2 Difference and SpO2 in Patients with Congenital Cyanotic Heart Disease / 대한마취과학회지

BACKGROUND: In neonates and infants with congenital cyanotic heart disease, venous blood, rich in CO2 and poor in O2, is mixed with pulmonary venous blood at left heart. As a consequence, any given degree of decreases in SpO2 is accompanied by obligatory increase in PaCO2 - PETCO2 difference. This study was designed to evaluate these relationship in 20 pediatric patients. METHODS: After endotracheal intubation with high dose fentanyl and pancuroniun, PETCO2 was measured by capnometer (side stream, sample gas flow rate of 200 ml/min; sampling site at elbow connector area) and SpO2 probe was attached at toe or finger. Observations were made 4 or 5 times before initiation of CPB. Ventilation was controlled by pressure type ventilator, partial rebreathing circuit at frequency of 25-35 breaths/min, an inspiratory time of 25% with an end-inspiratory pause of 10%, and peak airway pressure of 20 +/- 2 cmH2O. RESULT : Mean values of PaCO2 - PETCO2 difference were increased linely with decreases in SpO2. The regression equation is mean (PaCO2 - PETCO2) (mmHg) = 23.9 0.22 mean SpO2 (r= 0.51, p=0.028) CONCLUSIONS: The relationship between PaCO2 - PETCO2 was found to agree with that predicted by theory confirming that in congenital cyanotic heart patients, PaCO2 increases by 2-5 mmHg for every 10% reduction in SpO2. This relationship may be useful when attemping to estimate PaCO2 from PETCO2 in the management of congenital cyanotic heart patients.

Ependymal Cysts

The authors report four cases of ependymal cysts. Among the benign cystic lesions of neuroepithelial origin, ependymal cysts have been reportedly located in the cerebral parenchyme. This usually become symptomatic after 40 years of age, although it is generally thought to be congenital in origin. Symptomatic cases have been treated effectively with resection of the cyst or shunting procedures. Stereotactic removal of the cyst was also a good alternative as management in the authors' cases. Differential diagnosis is mandatory with other benign intraparenchymal cystic diseases.