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1.
SN Compr Clin Med ; 2(9): 1412-1418, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32838180

RESUMO

The entire world is reeling under the effects of the novel corona virus pandemic. As it is a new infection, our knowledge is evolving constantly. There is limited information about impact of corona virus on neonatal care in relation to newborns with confirmed or suspected COVID-19. In this article, we summarize the current approach to this infection in relation to newborn babies. We discuss the basic aspects of the infection, the approach of care to novel corona virus disease 2019 (COVID-19) in positive pregnant women, the likely presentation in newborns (as per current knowledge), and the approach to the management of neonates with infection or at risk of the infection. Children are less susceptible to COVID-19 infection and generally have a mild course. There is a lower risk of severe disease among pregnant women and neonates. It was recommended to follow the current protocols for management of symptomatic newborn with isolation precautions, antibiotics, and respiratory support.

2.
J Pediatr Endocrinol Metab ; 29(12): 1407-1412, 2016 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-27824615

RESUMO

BACKGROUND: Gonadal dysgenesis with an apparently normal 46,XX karyotype is a rare cause of hypergonadotrophic hypogonadism. Tall stature is not a widely recognized association. CASE REPORT: A 15-year-old girl presented with primary amenorrhoea. Examination showed a non-dysmorphic girl of normal intellect with no breast development (Tanner stage B1P4A1) who was tall compared with her parents: height standard deviation score (SDS) +1.56 vs. midparental height of +0.23 SDS, and slim build (weight -0.13 SDS). Investigations showed a 46,XX karyotype, elevated gonadotropins (FSH 119 and LH 33.7 IU/L), serum estradiol <5 pmol/L, uterine length 3.75 cm with cylindrical shape, and absent ovaries on ultrasound. Initially, a 364055-bp deletion on Xp21.2 was reported on array CGH. However, repeat analysis using BlueGnome CytoChip ISCA 4x180k v2.0 array was normal. With oral ethinyl estradiol induction puberty progressed to B4P4A2 but aged 18.4 years, the patient was remarkably tall with height SDS +2.88, weight SDS +0.97. CONCLUSIONS: Caution is needed in interpreting small changes with array CGH, particularly with the older assays. We postulate that the genetic change causing 46,XX gonadal dysgenesis in our patient may have also resulted in unsuppressed somatic growth. More critical height assessment, including parental height measurement, of future patients with 46,XX gonadal dysgenesis is recommended in order to determine whether or not a true association with tall stature may be present in certain cases.


Assuntos
Estatura/genética , Hibridização Genômica Comparativa/métodos , Disgenesia Gonadal/fisiopatologia , Adolescente , Feminino , Humanos , Prognóstico
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