Excepcional variación anatómica del confluente biliar superior / Exceptional anatomical variation of the upper biliary confluence / Variação anatômica excepcional da confluência biliar superior

Las variaciones de la formación del confluente biliar superior y su frecuencia deben ser conocidas para asegurar óptimos resultados en la cirugía hepática y evitar lesiones quirúrgicas biliares.

Incidencia y características de los pacientes portadores de defectos congénitos en el Servicio de Neonatología del Centro Hospitalario Pereira Rossell 2016-2020: 5 años de experiencia / Incidence and characteristics of patients with congenital defects at the Pereira Rossell Hospital's Neonatology Department in 2016-2020: 5 years experience / Incidência e características dos pacientes com defeitos congênitos no Serviço de Neonatologia do Centro Hospitalar Pereira Rossell 2016-2020: 5 anos de experiencia

Los defectos congénitos son alteraciones morfológicas que se originan durante la vida intrauterina que se presentan hasta en un 5% de los recién nacidos vivos. Tienen múltiples etiologías, siendo esta multifactorial en el 90% de los casos. Se realizó un estudio observacional, prospectivo, descriptivo incluyendo a todos los recién nacidos portadores de defectos congénitos en el período 2016-2020. El objetivo de este trabajo es determinar la incidencia de defectos congénitos en recién nacidos del Centro Hospitalario Pereira Rossell en el período mencionado, así como conocer su distribución por aparatos y sistemas, las características demográficas de esta población, la prevalencia de diagnóstico prenatal y la exposición materna a factores de riesgo durante la organogénesis. Se obtuvo una incidencia de 1,7% (423 recién nacidos afectados en 24.870 nacimientos), de los cuales el 34,98% contaba con diagnóstico prenatal. El sistema cardiovascular fue el que presentó una mayor frecuencia de alteraciones, y el defecto congénito más frecuentemente observado individualmente fue la gastrosquisis, con una incidencia de 15,28 cada 10.000 nacidos vivos. La diabetes gestacional se presentó en el 17,25% de las gestantes. Este trabajo nos permitió conocer la incidencia de defectos congénitos, así como su distribución por aparatos y sistemas. Este tipo de sistemas de vigilancia resultan fundamentales para identificar elementos a mejorar, que permitan disminuir la morbilidad y mortalidad de estos pacientes y también identificar precozmente factores de riesgo que aumenten estas patologías de forma significativa.

Congenital birth defects are morphological disturbances originated during gestation and present in up to 5% of live births. They have multiple etiologies, in 90% of cases of multifactorial origin. A longitudinal, prospective, observational study was carried out and it included all patients with congenital birth defects in 2016-2020. The main objective of this study was to determine the incidence of newborns with congenital birth defects between 2016 and 2020, to determine their distribution by organ, to describe their demographic characteristics, to calculate the prevalence of prenatal diagnosis and to identify maternal risk factors. We obtained an incidence of 1,7% (423 affected newborns in 24870 live births), 34,98% had prenatal diagnoses. The cardiovascular system was the most frequently affected and when classified by individual birth defect, the most frequently observed was gastroschisis with 15.28 cases in 10,000 live births. Gestational diabetes was the maternal risk factor most frequently observed with 17, 25%. This study enabled us to know the incidence of congenital birth defects and their distribution by different organs at our center. These surveillance systems are key to identify areas of potential improvement that might enable us to mitigate morbidity and mortality in this group of patients.

Os defeitos congênitos são alterações morfológicas que se originam durante a vida intrauterina e ocorrem em até 5% dos recém-nascidos vivos. Possuem múltiplas etiologias, sendo multifatoriais em 90% dos casos. Realizou-se um estudo observacional, prospectivo e descritivo incluindo todos os recém-nascidos com defeitos congênitos no período 2016-2020. O objetivo deste trabalho foi determinar a incidência de defeitos congênitos em recém-nascidos do Centro Hospitalar Pereira Rossell no período 2016-2020, bem como conhecer sua distribuição por órgãos e sistemas, as características demográficas dessa população, a prevalência de diagnóstico pré-natal e exposição materna a fatores de risco durante a organogênese. Obteve-se uma incidência de 1,7% (423 recém-nascidos afetados em 24.870 nascimentos), dos quais 34,98% tiveram diagnóstico pré-natal. O sistema cardiovascular foi o que apresentou maior frequência de alterações, e o defeito congênito mais observado individualmente foi a gastrosquise com incidência de 15,28 em cada 10.000 nascidos vivos. O diabetes gestacional ocorreu em 17,25% das gestantes. Este paper permitiu conhecer a incidência de defeitos congênitos, bem como sua distribuição por órgãos e sistemas. Estes tipos de sistemas de vigilância são essenciais para identificar elementos a melhorar, que permitam reduzir a morbilidade e mortalidade desses pacientes e também identificar precocemente fatores de risco que aumentam significativamente essas patologias.

Prevalencia, formas clínicas y factores asociados a defectos congénitos del sistema digestivo / Prevalence, clinical presentation and factors associated to congenital defects of the digestive system

El sistema digestivo es de los más afectados por defectos congénitos, los cuales constituyen un problema de salud global por aparecer entre las primeras causas de mortalidad infantil y por lo difícil de su prevención.Objetivo: identificar factores asociados a la aparición de defectos congénitos del sistema digestivo y la magnitud del riesgo que implica su presencia en el municipio Camagüey.Método: estudio de casos y controles con un universo conformado por todas las concepciones del período estudiado. De la población compuesta por 53 defectos congénitos del sistema digestivo, la muestra fue de 30 casos. Los 30 controles fueron niños sanos de la misma área de salud e igual sexo y edad probable para cada caso, en el periodo desde enero de 2006 a enero del 2011.Resultados: los defectos congénitos del sistema digestivo fueron segundos en prevalencia superados por el sistema nervioso y seguidos por las cardiopatías. La gastrosquisis fue la anomalía más frecuente, seguida por las hernias diafragmáticas, el onfalocele y las atresias esofágicas. El consumo de café en la madre (p=0,002;OR:5,53;IC:1,03-1,14), el hábito de fumar en el padre (p=0,009;OR:6,45;IC:1,57-26,36) y los antecedentes familiares de anomalías (p=0,009;OR:6,40;CI:1,60-25,66) fueron los factores que mostraron asociación estadística con la presencia de defectos congénitos del sistema digestivo.Conclusiones: no se constataron frecuencias erráticas que indicaran la acción de teratógenos exógenos; cada factor independiente identificado incrementó en más de cinco veces la probabilidad de presentar defectos congénitos del sistema digestivo y su asociación triplicaría esa cifra. Los resultados sugieren redirigir el proyecto a la exploración exhaustiva de los factores identificados y se recomiendan estudios sucesivos con muestras mayores para llegar a conclusiones clínicas con mejor certidumbre...

Digestive system is one of the most affected by congenital defects which constitute a global health problem; they are among the main causes of infant mortality and also difficult to prevent.Objective: to identify factors associated to congenital defects of the digestive system and the magnitude of the risk that entails its presence in Camagüey municipality.Methods: a case-control study was conducted from January 2006 to January 2011. The universe was composed of all the conceptions of the studied period, of a population composed of 53 congenital defects; the sample was of 30 cases. The 30 control group members were healthy children from the same health area, of the same sex and probable age for each case.Results: congenital defects of the nervous system and cardiopathies predominated over congenital malformations of the digestive system. Gastroschisis was the most frequent anomaly fallowed by diaphragmatic hernias, omphalocele, and esophageal atresia. Coffee consumption in the mother (p=0,002;OR:5,53;IC:1,03-1,14), smoking in the father (p=0,009;OR:6,45;IC:1,57-26,36), and family history of anomalies (p=0,009;OR:6,40;CI:1,60-25,66) were the factors that showed statistical association to the presence of congenital defects of digestive system.Conclusions: erratic frequencies that indicated the action of exogenous teratogens were not established; each identified independent factor increased in more than five times the probability of presenting congenital defects of the digestive system and its action would triple that number. Results suggest redirecting the project to the exhaustive exploration of the identified factors; subsequent studies with greater samples to get to clinical conclusions with more certitude are recommended...

Scenario of neonatal surgery in West Bengal with refrence to cases of anorectal malformation.

Pediatric Surgery, though a super specialty does not enjoy the glamour and importance like other specialities, though, dealing with the most delicate of mankind, the children. The reasons for this are manifold and the results of this, brutal. This is a retrospective study carried at the major institutes of West Bengal where departments of pediatric surgery exist. We have observed a gross discrepancy between the number of patients admitted for surgically correctable congenital malformations and the standard state/ national frequency of these disorders. We focus on the plight of a child not able to reach the leval III health care system with a pediatric surgical back up and analyze the pros and cons with constructive criticism of the existing system.

Congenital malformations among live births at Arvand hospital, Ahwaz, Iran - Aprospective study

The aim of the study was to determine the profile of congenital malformations [CM] among live births at Arvand hospital, in Ahwaz city. In this prospective study all of the neonates born at Arvand hospital in Ahwaz from 2004 to 2006 were registered. Stillbirths and those who died in a few hours after birth were excluded and finally 4660 newborns were enrolled. Of the 4660 live births 94 [20.2/1000] had at least a CM. The predominant systems involved were musculoskeletal [7.9/1000], followed by genitourinary [7.1/1000], central nervous [2.4 /1000], digestive [1.1/1000] and chromosomal anomalies [0.9/1000]. Although the frequency of malformations in the study was approximately similar to other investigations, if we include abortions, stillbirths and if we used screening tests and genetic studies, this rate was more than 20.1/1000

Congenital lower intestinal tract anomalies: review of surgical management of 50 Iraqi patients in Al-Najaf City

Congenital lower intestinal tract anomalies are significant cause of morbidity and mortality in children, classified in two groups, major one is anorectal malformation, other one Hirchsprung's disease, usually associated with other anomalies and should be treated as early as possible. To show the prevalence and our experience with congenital lower intestinal tract anomalies in AL-Najaf city. A total 50 patients had various types of congenital lower intestinal tract anomalies, 22 of them high types [anorectal] treated by 3 stages operations[preliminary colostomy, nearly new definitive surgery infracoccygeal approach and closure colostomy], minor surgery for low types [12] and for Hirchsprung's disease treated by usual pull through operation[Swenson's]. The anorectal anomalies [A.R.M] are the most common anomalies of lower intestinal tract, high type cases were 25, low type were 12 cases and Hirchsprung's disease were13 cases. Male were 30 cases and female were 20 cases, age of presentation between first day of life and 18 years of life. Infracoccygeal approach was the safe and non complicated operation in dealing with high type of anorectal malformation and the good results obtained when the operation was done early period of life [around one year]

Urogenital anomalies associated with anorectal malformations in children.

The urogenital tract is the most severe and common site of associated defects in anorectal malformations (ARM). Urogenital anomalies and their complications significantly increase the morbidity in these children after the ARM is corrected. The purpose of this study was to estimate the incidence of different types of urogenital anomalies with various types of anorectal malformations and to discuss the possible management and outcome. A retrospective study of patients with ARM and associated urogenital abnormalities admitted in the department of paediatric surgery of Sylhet MAG Osmani Medical College Hospital between 1998 and 2002 was undertaken. A total of 155 patients with Anorectal malformations were admitted of which 47 (30.32%) patients had associated anomalies involving other systems. Urogenital abnormalities were found in 25 (16.13%) patients. Patients of Anorectal malformations with urogenital abnormalities require careful assessment and well-timed intervention to minimize the morbidity.

Incidence of associated congenital anomalies in anorectal malformations.

The study was undertaken to review the incidence and types of associated congenital urogenital anomalies in patients with anorectal malformations (ARM) and compare the results with previously published world literature. Retrospective review was done of 220 cases of ARM, treated during May 2002 to April 2003. All patients routinely underwent ultrasound study of the KUB region and pelvis and lumbosacral radiography. Voiding cystourethrography, nuclear renography and other investigations like buccal smear and karyotyping were done in selected cases only. Genital anomalies were found in 30 cases (13.63%) and urologic anomalies in 25 cases (11.36%), a direct correlation being found between the level of ARM and the incidence of urogenital anomalies. The high incidence of associated anomalies (24.54%) makes careful clinical examination and evaluation of the urinary tract during the neonatal or early infantile period mandatory in all cases of ARM, particularly to avoid deterioration of renal function in future.

Anorectal malformations and their impact on survival.

OBJECTIVE: To evaluate the incidence, types and the effect on outcome of associated anomalies in neonates with anorectal malformations (ARM). METHODS: This retrospective study was carried out on all neonates with ARM admitted to the neonatal surgical intensive care unit (NSICU) from 1998 through 2003. RESULTS: Of the 754 neonates admitted to the NSICU during the study period of 6 years, there were 124 (16.4%) neonates with anorectal malformations. Of these 110 were included in the study. 73 % were male and 27% female. 86% of these were high ARM (HARM) while only 14% were low ARM (LARM). Associated anomalies were seen in 68% of patients. The incidence was 72% for HARM and 50% for LARM. The major associated anomalies consisted of esophageal (13%), gastrointestinal (GIT) (11%), genitourinary (GUT) (32%), skeletal (26%), cardiac (33%) and miscellaneous 26%. The overall survival rate was 84% (82% for HARM and 94% for LARM). The survival among those with associated esophageal anomalies was 43%, GIT 67%, GUT 80%, cardiac 61%, skeletal 76% and miscellaneous 79% respectively. This difference in survival was significant only for those with esophageal (p=0.004) and cardiac anomalies (p=0.0026). The survival rates among those with one, two or more than two organ systems involved with associated anomalies were 88%, 82% and 58% respectively. This difference was significant only for more than two organ systems involvement (p=0.003). CONCLUSION: Associated anomalies are common in neonates with ARM, the incidence being similar for HARM and LARM. The survival depends upon the number and severity of associated anomalies both in patients with LARM and HARM. Neonates with more number of organ systems involved have a poorer survival specially when associated with esophageal and cardiac anomalies. All neonates with ARM merit a meticulous search for associated anomalies so that the management can be tailored for each baby.

Malformaciones congénicas del sistema digestivo: maternidad Hospital Clínico de la Universidad de Chile: período 1991-2001 / Frequency of digestive system congenital malformations detected at the University of Chile hospital in the period 1991-2001

There were 26,617 births attended at the University of Chile Clinical Hospital, of which 0.63 percent were stillborn. A frequency of malformations of 7.2 per born alive and of 22.1 per stillborn was detected in this population. Aim: To report the frequency of digestive system congenital malformations in this population. Material and methods: Analysis of data from the births that occurred at the University of Chile Hospital, that was gathered using codified form for the Latin American Collaborative Study for Congenital Malformations. Results: Ninety seven digestive congenital malformations were detected, with a rate of 26.4 per 10,000 born alive and 12.2 per 10,000 stillborn. Diaphragmatic hernia was the most frequent malformation found, followed by imperforated anus, onphalocele and esophageal atresia. There was a secular increase in the frequency of these malformations. Conclusions: The frequency of digestive system malformations is higher than in the rest of hospitals participating in the Latin American Collaborative Study for Congenital Malformations

Malformaciones congénitas anorrectales y sus asociaciones preferentes: experiencia del Hospital Clínico de la Universidad de Chile, período 1979-1999 / Anorectal congenital malformations and their associations in a Chilean University Hospital between 1979 and 1999

Background: Anorectal atresia is a relatively frequent malformation in the newborn. According to the Latin American Collaborative Study for Congenital Malformations (ECLAMC), its frequency is 4.1 per 10,000 born alive. Aim: To determine the frequency of anorectal malformations at birth, and compare the figures with those of other maternity hospitals in Chile participating in ECLAMC, with the figures of the whole ECLAMC and with figures from other worldwide monitoring systems. Patients and methods: All births occurred in the University of Chile Clinical Hospital between January 1979 and August 1999, were reviewed. Results: During the study period, 70,242 children were born, 4,486 had a malformation and 54 had an anorectal malformation (7.7 per 10,000 born alive). Fifty nine percent had other associated malformations (of the urinary tract in 42.5 percent, skeletal in 26 percent and cardiovascular in 18.5 percent). Five stillborn babies had other severe malformations. Twenty one children had a fistula. Forty three percent were male, 39 percent female and 18 percent had ambiguous sex. When compared with normal controls, malformed newborns had a lower birth weight, lower gestational age and a higher mean maternal age, a higher frequency of metrorrhagia during the first trimester of pregnancy, a higher number of siblings with malformations and a higher degree of consanguinity among parents. Conclusions: The participation of recessive genes in the etiology of anorectal malformations is suggested

Down syndrome associated malformations.

This paper reports the associated malformations and the clinical findings that were observed in 417 cytogenetically confirmed Down Syndrome patients. Among them congenital heart defects have occurred more frequently [75; 17.98%] than osteoarticular malformations [23; 5.52]; eye anomalies [22; 5.27%]; and gastroenterological malformations [n 16; 3.84%]. With regard to prognosis and treatment appropriate counselling has been given to Down Syndrome patients and their families.