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1.
Int Med Case Rep J ; 17: 265-273, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38585618

RESUMO

Introduction: This report details the exceptional survival of a female newborn buried alive by her own mother after a clandestine and unassisted birth. Despite spending over six hours underground, the newborn remarkably survived without exhibiting signs of perinatal asphyxia or major complications, and did not require advanced resuscitation measures. Case Presentation: Rescued following a shocking discovery in a garden and rushed to the hospital, this newborn experienced transient hypothermia, mild to moderate respiratory distress, and scattered skin bruises. After five days of hospital care, she was discharged in clinically stable condition with no infectious complications, displaying age-appropriate normal neurological examination findings and excellent feeding. Conclusion: This case not only defies established expectations but also illuminates perinatal physiological adaptation complexities. It highlights a fortunate and exceptional outcome in dire circumstances, presenting a captivating enigma within scientific realms. This report sheds light on the critical importance of early intervention and timely rescue efforts in cases of neonaticide, emphasizing the significance of raising awareness and implementing prompt measures to safeguard newborns in vulnerable situations and collectively contribute to our understanding of handling similar distressing cases.

2.
Int J Pediatr ; 2022: 3885979, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36254264

RESUMO

Sickle cell disease (SCD) is an umbrella term for a group of life-long debilitating autosomal recessive disorders that are caused by a single-point mutation (Glu→Val) that results in polymerization of hemoglobin (Hb) and reversible sickle-shape deformation of erythrocytes. This leads to increased hemolysis of erythrocytes and microvascular occlusion, ischemia-reperfusion injury, and tissue infarction, ultimately causing multisystem end-organ complications. Sickle cell anemia (HbSS) is the most common and most severe genotype of SCD, followed by HbSC, HbSß 0thalassemia, HbSß+thalassemia, and rare and benign genotypes. Clinical manifestations of SCD occur early in life, are variable, and are modified by several genetic and environmental factors. Nearly 500 children with SCD continue to die prematurely every day, due to delayed diagnosis and/or lack of access to comprehensive care in sub-Saharan Africa (SSA), a trend that needs to be urgently reversed. Despite proven efficacy in developed countries, newborn screening programs are not universal in SSA. This calls for a consolidated effort to make this possible, through the use of rapid, accurate, and cheap point-of-care test kits which require minimal training. For almost two decades, hydroxyurea (hydroxycarbamide), a century-old drug, was the only disease-modifying therapy approved by the U.S. Food and Drug Administration. Recently, the list expanded to L-glutamine, crizanlizumab, and voxelotor, with several promising novel therapies in the pipeline. Despite its several limitations, hematopoietic stem cell transplant (HSCT) remains the only curative intervention for SCD. Meanwhile, recent advances in gene therapy trials offer a glimpse of hope for the near future, although its use maybe limited to developed countries for several decades.

3.
Int J Pediatr ; 2021: 6622598, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33815512

RESUMO

Germinal matrix-intraventricular hemorrhage (GM-IVH) is a common intracranial complication in preterm infants, especially those born before 32 weeks of gestation and very-low-birth-weight infants. Hemorrhage originates in the fragile capillary network of the subependymal germinal matrix of the developing brain and may disrupt the ependymal lining and progress into the lateral cerebral ventricle. GM-IVH is associated with increased mortality and abnormal neurodevelopmental outcomes such as posthemorrhagic hydrocephalus, cerebral palsy, epilepsy, severe cognitive impairment, and visual and hearing impairment. Most affected neonates are asymptomatic, and thus, diagnosis is usually made using real-time transfontanellar ultrasound. The present review provides a synopsis of the pathogenesis, grading, incidence, risk factors, and diagnosis of GM-IVH in preterm neonates. We explore brief literature related to outcomes, management interventions, and pharmacological and nonpharmacological prevention strategies for GM-IVH and posthemorrhagic hydrocephalus.

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