Insulin-like growth factor binding proteins (IGFBPs) play important physiological functions through the modulation of IGF signaling as well as IGF-independent mechanisms. Despite the established role of IGFs in development, a similar role for the seven known IGFBPs has not been established in humans. Here, we show that an autosomal-recessive syndrome that consists of progressive retinal arterial macroaneurysms and supravalvular pulmonic stenosis is caused by mutation of IGFBP7. Consistent with the recently established inhibitory role of IGFBP7 on BRAF signaling, the BRAF/MEK/ERK pathway is upregulated in these patients, which may explain why the cardiac phenotype overlaps with other disorders characterized by germline mutations in this pathway. The retinal phenotype appears to be mediated by a role in vascular endothelium, where IGFBP7 is highly expressed.
Background: Vertical transmission of SARS-CoV-2 is under investigation. A few reports suggest the possibility of SARS-CoV-2 transmission from mothers to their neonates. Most neonates have mild symptoms, but some develop multisystem involvement and shock.Case Presentation: We report two cases of possible SARS-CoV-2 vertical transmission from mothers to their neonates. The first case shows maternal infection with SARS-CoV-2 in the second trimester followed by recurrent infection in the third trimester right before the delivery. The infant demonstrated respiratory distress soon after delivery along with myocardial dysfunction and multi-organ system involvement. The second case shows maternal infection with SARS-COV-2 at the time of delivery with preterm labor secondary to placental abruption, with that delivery resulting in the preterm neonate requiring non-invasive ventilation with multisystem involvement in the context of persistently positive SARS-COV-2 PCR in the neonate. Both neonates were treated with IVIG along with steroids. Both neonates recovered fully and were discharged and allowed to go home.Conclusion: In neonates, COVID-19 usually presents as an asymptomatic or mild illness; some may develop a more severe course. Our two cases, however, demonstrate that multisystem involvement, although rare, is possible. This report also supports the current evidence of possible vertical transmission from mothers to their neonates. This multisystem involvement might be underreported and should be considered in neonates with respiratory distress when born to mothers suffering of COVID-19.Clinical Trial Registration: [KSUMC], identifier [No#98763298].
Background: Child abuse is prevalent worldwide, although it is often underreported. We describe the pattern of child abuse and neglect presenting to the emergency room of our hospital, the sociocultural changes which brought this about, and suggest ways to deal with this emotionally sensitive issue. Patients and Methods: Thirteen cases of child abuse and neglect were seen in the emergency room of King Khalid University Hospital over a period of one year from July 1996 to June 1997. There were four cases of non-accidental injury, three of which had serious injury. There were three cases of sexual abuse, four cases of neglect, resulting in the death of one child and severe emaciation in another. There was one suspected case of Munchausen syndrome by proxy, and one case of child labor with neglect. Conclusion: Public awareness of the problem of child abuse has increased, and recent media reports reflect the significance accorded to the issue. As more information is obtained on this subject and policies and guidelines are set in place, efforts at reporting and preventing physical and psychological trauma will gather momentum.
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