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1.
Chinese Journal of Contemporary Pediatrics ; (12): 812-815, 2017.
Artículo en Chino | WPRIM | ID: wpr-297203

RESUMEN

The study reports a female neonate with a gestational age of 29weeks and a birth weight of 1 210 g. Ten minutes after birth, the neonate was admitted to the hospital due to shortness of breath. Several days after birth, the neonate presented with hyperglycemia, polyuria, and poor weight gain, accompanied by azotemia, hypochloremic metabolic alkalosis, hypokalemia, and hyponatremia. Laboratory examinations showed elevated levels of aldosterone, renin, and angiotensin II. Gene detection revealed SLC12A1 gene mutation. Neonatal Bartter syndrome was thus confirmed. The neonate was treated with sodium and potassium supplements, and was followed up for 8 months. During the follow-up, the mental and neural development of the neonate was almost normal at the corrected age, and regular reexaminations showed slight metabolic alkalosis and almost normal electrolyte levels. For the neonates who have the symptoms of unexplainable polyurine and electrolyte disorders, it is important to examine the levels of aldosterone, renin and angiotensin. A definite diagnosis of neonatal Bartter syndrome can be made based on the presence of SLC12A1 gene mutation.


Asunto(s)
Femenino , Humanos , Recién Nacido , Acidosis , Síndrome de Bartter , Terapéutica , Hipopotasemia , Recurrencia , Aumento de Peso
2.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 807-810, 2017.
Artículo en Chino | WPRIM | ID: wpr-333422

RESUMEN

We report one case of pediatric acute myeloid leukemia type 2 (AML-M2) who presented with karyotypic aberration of trisomy 21 with the t(5;ll) chromosomal translocation.The patient achieved complete remission after two cycles of chemotherapy of daunorubicin,cytarabine and etoposide.Then,follow-up cytogenetic analysis from bone marrow cell cultures demonstrated a normal karyotype of 46,XY.After 9 years,the patient relapsed and the karyotypic abnormalities of trisomy 21 with t(5;ll) reappeared.It was concluded that trisomy 21 with t(5;11) is a new unfavorable cytogenetic aberration in AML-M2.

3.
Chinese Journal of Contemporary Pediatrics ; (12): 635-638, 2016.
Artículo en Chino | WPRIM | ID: wpr-261176

RESUMEN

<p><b>OBJECTIVE</b>To investigate the influence of delayed cord clamping (DCC) on preterm infants with a gestational age of <32 weeks.</p><p><b>METHODS</b>Ninety preterm infants with a gestational age of <32 weeks delivered naturally from January to December, 2015 were enrolled and randomly divided into DCC group (46 infants) and immediate cord clamping (ICC) group (44 infants). The routine blood test results, total amount of red blood cell transfusion, blood gas parameters, mean arterial pressure, bilirubin peak, total time of phototherapy, and incidence rates of necrotizing enterocolitis, late-onset sepsis, intracranial hemorrhage, retinopathy, and bronchopulmonary dysplasia were compared between the two groups.</p><p><b>RESULTS</b>Compared with the ICC group, the DCC group had significantly higher levels of hemoglobin, hematocrit, mean arterial pressure, and standard base excess (P<0.05), as well as a significantly lower percentage of preterm infants who underwent volume expansion and dopamine treatment and a significantly lower amount of red blood cell transfusion (P<0.05). The body temperature, pH value, HCO3(-) concentration, serum bilirubin peak, total time of phototherapy, and incidence rates of late-onset sepsis, retinopathy, grade≥2 intracranial hemorrhage, and grade≥2 neonatal necrotizing enterocolitis showed no significant differences between the two groups (P>0.05).</p><p><b>CONCLUSIONS</b>DCC is a safe clinical intervention and can improve the prognosis of preterm infants with a gestational age of <32 weeks.</p>


Asunto(s)
Femenino , Humanos , Recién Nacido , Masculino , Constricción , Parto Obstétrico , Métodos , Edad Gestacional , Sangre , Recien Nacido Prematuro , Factores de Tiempo , Cordón Umbilical
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