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1.
Indian J Hum Genet ; 2013 Oct-Dec ;19 (4): 491-493
Artículo en Inglés | IMSEAR | ID: sea-156622

RESUMEN

A rare congenital defect in fusion of the anterior chest wall resulting in an extrathoracic location of the heart. Cantrell’s pentalogy is a congenital anomaly resulting from embryologic development defect and consists of the following: A deficiency of the anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, congenital intracardiac abnormalities, and a defect of the lower sternum. Here


Asunto(s)
Adulto , Ectopía Cordis/epidemiología , Ectopía Cordis/genética , Femenino , Hernia Umbilical/epidemiología , Hernia Umbilical/genética , Hernia Umbilical/mortalidad , Humanos , Recién Nacido , Recien Nacido Prematuro , Masculino , Mortinato
2.
Indian J Hum Genet ; 2010 Sept; 16(3): 159-163
Artículo en Inglés | IMSEAR | ID: sea-138917

RESUMEN

OBJECTIVE: To study the incidence of congenital anomalies and the associated risk factors in Department of Pediatrics at Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, a rural medical college hospital in central Maharashtra. MATERIALS AND METHODS: All the intramural deliveries between 1 January 2005 and 31 July 2007 comprised 9386 births and their 9324 mothers (62 mothers gave birth to twin babies). The newborns were examined and assessed systematically for the presence of congenital anomalies, system wise distribution of anomalies and risk factors attributable. RESULTS: Out of the total 9386 deliveries, 9194 were live births and 192 were stillbirths. The total number of babies with congenital malformations was 179 (1.91%). Out of the 9262 singleton births, 177 (1.05%) were malformed, whereas 2 of the 62 pairs of twins had birth defects. Nine of the 179 malformed babies (5.02%) were still born. Prematurity, increased maternal age, increasing birth order and low birth weight were found to have a higher risk of congenital anomalies. Cardiovascular malformations were most common in live births, followed by musculoskeletal and genitourinary anomalies. CONCLUSION: Congenital anomalies are a major cause of stillbirths and infant mortality. Evaluation of cardiovascular system to rule out congenital heart disease in high-risk mothers’ babies is the important factor to be considered.


Asunto(s)
Anomalías Congénitas/diagnóstico , Anomalías Congénitas/epidemiología , Anomalías Congénitas/genética , Hospitales Rurales/estadística & datos numéricos , Humanos , India , Recién Nacido , Edad Materna , Parto , Factores de Riesgo , Mortinato/epidemiología , Mortinato/genética , Gemelos
3.
Indian Heart J ; 2005 Nov-Dec; 57(6): 694-7
Artículo en Inglés | IMSEAR | ID: sea-6103

RESUMEN

BACKGROUND: Sickle cell anemia is a formidable problem in India, and is more prevalent in Maharashtra. Cardiovascular involvement in this condition has not been well studied. The present study therefore sought to investigate the systolic and diastolic left ventricular function of children with sickle cell anemia. METHODS AND RESULTS: This prospective controlled study comprised of 25 cases of sickle cell anemia, 25 cases of anemia (hemoglobin <11 gm/dl) with 'AA' types of hemoglobin electrophoresis and 25 non-anemic controls (hemoglobin >11 gm/dl) with normal hemoglobin electrophoresis pattern. M-mode, 2-dimensional and Doppler echcardiographic measurements of patients and controls were performed according to criteria of the American Echocardiography Society. In the study cases, age ranged from 5 years to 15 years with the mean age of 9.91 years. There were 14 males and 11 females in the study cases. Patients with sickle cell anemia had significantly larger left atrial (23.26 +/- 3.6 mm, 22.9 +/- 2.56 mm, 20.72 +/- 2.79 mm; p < 0.05), left ventricular (34.88 +/- 4.53, 33.28 +/- 3.28, 30.72 +/- 3.68: p < 0.05) and aortic root (19 +/- 2.7, 18.91 +/- 2.24, 17.56 +/- 1.44; p < 0.05) dimensions. They also had higher indexed end-diastolic left ventricular volumes (101.84 +/- 22.74 ml/m2 v. 65.05 +/- 10.81 ml/m2; p < 0.001), and higher stroke volume (29.32 +/- 11.32 ml, 27.12 +/- 7.82 ml, 22.4 +/- 6.67 ml; p < 0.05). Left ventricular mass (62.24+/- 18.44 gm, 52.53 +/- 16.23 gm, 50.2 +/- 15.68 gm; p < 0.05) was greater in sickle cell anemia patients than in controls. No statistically significant differences were detected in the Doppler finding of patients with or without anemia. No statistically significant correlation was found between echocardiographic parameters (M-mode and Doppler) and the hemoglobin in the sickle cell patients. CONCLUSIONS: Echocardiography is a useful non-invasive technique to study the changes in cardiac structure and function. In spite of left ventricular volume load and dilation in sickle cell anemic patients, left ventricular contraction was good and systolic function was normal, and there was no correlation between the echocardiographic findings and hemoglobin level.


Asunto(s)
Adolescente , Anemia de Células Falciformes/diagnóstico , Gasto Cardíaco , Niño , Preescolar , Diástole/fisiología , Ecocardiografía Doppler , Femenino , Pruebas de Función Cardíaca , Humanos , Masculino , Probabilidad , Pronóstico , Estudios Prospectivos , Valores de Referencia , Medición de Riesgo , Índice de Severidad de la Enfermedad , Sístole/fisiología , Función Ventricular Izquierda/fisiología
4.
Indian J Pediatr ; 2004 Jun; 71(6): 545-7
Artículo en Inglés | IMSEAR | ID: sea-82937

RESUMEN

An association of unilateral pulmonary agenesis with in situ neuroblastoma of adrenal gland in a newborn having multiple congenital anomalies is being reported. Polycystic right kidney and absent left kidney, leading to severe oligohydramnios with secondary Potter's syndrome and Breech deformation sequence, were additional malformations present in our proposita.


Asunto(s)
Anomalías Múltiples/patología , Neoplasias de las Glándulas Suprarrenales/patología , Humanos , Recién Nacido , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Riñón/anomalías , Pulmón/anomalías , Masculino , Neuroblastoma/patología
5.
Indian J Pediatr ; 2004 May; 71(5): 419-21
Artículo en Inglés | IMSEAR | ID: sea-80695

RESUMEN

Allantoic cysts of umbilical cord are very rare. A preterm, low birth weight, male newborn with a new constellation of anomalies, allantoic duct cysts in the umbilical cord and associated perinatally lethal malformations of VACTERL sequence, is reported. In addition, the neonate also had duodenal atresia, patent urachus, obstructive uropathy and bifid scrotum. Association of Allantoic cysts with VACTERL sequence has not been described earlier.


Asunto(s)
Anomalías Múltiples/diagnóstico , Duodeno/anomalías , Resultado Fatal , Humanos , Recién Nacido , Masculino , Anomalías Musculoesqueléticas/diagnóstico , Escroto/anomalías , Fístula Traqueoesofágica/complicaciones , Quiste del Uraco/complicaciones , Uraco
6.
Indian J Pediatr ; 2004 Apr; 71(4): 357-8
Artículo en Inglés | IMSEAR | ID: sea-81311

RESUMEN

Acute appendicitis is rare in term neonates. In most of the reported cases, it is seen as a complication of necrotizing enterocolitis, Hirschsprung's disease, cystic fibrosis, meconium plug, inguinal hernia, umbilical hernia, Group B Streptococcal septicemia and chorioamnionitis. A surviving term male newborn with isolated acute appendicitis with perforation is reported. A high index of suspicion of acute appendicitis, early surgery and the importance of a thorough search for a perforation in cases of neonatal acute abdominal distention is stressed. Literature of this rare condition is reviewed briefly.


Asunto(s)
Enfermedad Aguda , Apendicectomía , Apendicitis/diagnóstico , Humanos , Recién Nacido , Laparoscopía , Masculino
8.
Indian J Pediatr ; 2003 Sep; 70(9): 761-2
Artículo en Inglés | IMSEAR | ID: sea-83696
9.
Indian Pediatr ; 2003 Sep; 40(9): 891-4
Artículo en Inglés | IMSEAR | ID: sea-6854

RESUMEN

A case of Limb body wall complex is reported in a preterm, Low birth weight and stillborn neonate. The proposita had abdominal wall defect with evisceration of the organs into an amnio-peritonial sac, a short body stalk, torsion of spine with scoliosis and limb defects. Unusual associations present in this case were absent thymus, interstitial calcification in kidney and a history of exposure to birth control pills during first two months post-conception.


Asunto(s)
Músculos Abdominales/anomalías , Anomalías Múltiples , Adulto , Anticonceptivos Orales , Femenino , Muerte Fetal , Humanos , Deformidades Congénitas de las Extremidades/etiología , Intercambio Materno-Fetal , Embarazo
10.
Indian J Pediatr ; 2003 Jun; 70(6): 509-11
Artículo en Inglés | IMSEAR | ID: sea-83084

RESUMEN

Group B Streptococcus (Streptococcus agalactiae) is a well-known cause of early and late onset infections in neonates and very young infants. Recently attention has focused on the changing spectrum of invasive Group B Streptococcus (GBS) disease, including children beyond early infancy and non-pregnant adults. There is very little information available on invasive GBS infection especially meningitis in pediatric population older than three months of age. We report a case of uncomplicated meningitis due to GBS in a previously healthy 5-year-old boy. The literature on infection especially meningitis caused by Group B Streptococcus beyond infancy is reviewed.


Asunto(s)
Antibacterianos/uso terapéutico , Ceftriaxona/uso terapéutico , Preescolar , Humanos , Masculino , Meningitis Bacterianas/diagnóstico , Infecciones Estreptocócicas/diagnóstico , Streptococcus agalactiae/aislamiento & purificación , Resultado del Tratamiento
11.
Indian J Pediatr ; 2003 Jan; 70(1): 105-7
Artículo en Inglés | IMSEAR | ID: sea-78375

RESUMEN

An association of Amniotic Band Disruption Sequence and Mermaid Syndrome in a newborn having multiple congenital anomalies is being reported. The newborn had aberrant string like tissues attached to the amputed fingers and toes. Adhesions of amniotic bands had disrupted the fetal parts especially anteriorly in the midline, causing multiple anomalies. Apart from these features of Amniotic Band Disruption Sequence, the newborn had complete fusion of the lower limbs by cutaneous tissue, a characteristic of Mermaid Syndrome (Sirenomelia). Associated malformations were anal stenosis, rectal atresia, small horseshoe kidney, hypoplastic urinary bladder and a bicomuate uterus. The single umbilical artery had a high origin, arising directly from the aorta just distal to the celiac axis, which is unique to sirenomelia. Theories put forward regarding the etiopathogenesis of both the conditions are discussed.


Asunto(s)
Anomalías Múltiples/patología , Síndrome de Bandas Amnióticas/patología , Anomalías Craneofaciales/patología , Ectromelia/etiología , Resultado Fatal , Femenino , Humanos , Recién Nacido , Deformidades Congénitas de las Extremidades/patología , Síndrome
12.
Indian J Pediatr ; 2002 Dec; 69(12): 1093-5
Artículo en Inglés | IMSEAR | ID: sea-84382

RESUMEN

A rare case of sirenomelia in a LBW, IUGR & second of a dizygotic twin having multiple congenital anomalies is being reported. Apart from the features of sirenomelia, the newborn had a single umbilical artery, radial hypoplasia, total anorectal & urogenital agenesis and undetermined sex. The single umbilical artery had a normal origin from the iliac artery. There was no Vitelline arterial steal phenomenon. Theories put forward regarding etiopathogenesis are discussed. We conclude that the anomalies in the present case are difficult to be explained with earlier proposed theories. This puts an emphasis on reconsideration of old theory of genetic injury to the embryo by unknown factors.


Asunto(s)
Anomalías Múltiples , Autopsia , Ectromelia/patología , Humanos , Recién Nacido , Gemelos Dicigóticos
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