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Case 1: Persistent Hypoglycemia in a 46,XX Newborn with Ovarian Dysgenesis [Case Report]
Yavelberg, Sarah; Choudry, Omer; Kashyap, Arun K; Velazquez, Danitza M
PMID: 31894082
ISSN: 1526-9906
CID: 5284792
Congenital diarrhea in a newborn infant: A case report [Case Report]
Sadiq, Mehrin; Choudry, Omer; Kashyap, Arun K; Velazquez, Danitza M
BACKGROUND:Microvillus inclusion disease (MVID) is a rare autosomal recessive cause of severe congenital diarrhea with significant morbidity and mortality. Definitive treatment involves bowel transplant. The diagnosis of this condition can be challenging and a few genetic panels are available for the identification of the most common mutations. We present the case of an infant with MVID due to a mutation not reported in the literature before. CASE SUMMARY/METHODS:gene [homozygous mutation for MYO5B c.1462del, p. (Ile488Leufs*93)] giving us the diagnosis of MVID. She remains on TPN while awaiting bowel transplant at the time of the compilation of this case report. CONCLUSION/CONCLUSIONS:We report a novel mutation involved in MVID and highlight the importance of considering this disease when faced with a newborn presenting with life threatening diarrhea. At the time of this publication, 232 allelic variations of this gene (MIM#606540) exist in National Center for Biotechnology Information's database. Our patient's mutation has not been reported in literature as a cause of MVID.
PMCID:6753393
PMID: 31559144
ISSN: 2219-2808
CID: 5284782
Functional Capacity of the Glucocorticoid Receptor in Pre-term Neonates [Meeting Abstract]
Madubuko, Adaora G.; Kashyap, Arun; Abdulla, Al-Khan; Alvarez-Perez, Jesus; Alvarez, Manuel; Giuliano, Michael; Steven, Ghanny
ISI:000540807300180
ISSN: 0031-4005
CID: 5284802
Vein of Galen malformation in a neonate: A case report and review of endovascular management [Case Report]
Puvabanditsin, Surasak; Mehta, Rajeev; Palomares, Kristy; Gengel, Natalie; Da Silva, Christina Ferrucci; Roychowdhury, Sudipta; Gupta, Gaurav; Kashyap, Arun; Sorrentino, David
Vein of Galen malformation (VOGM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor, the median prosencephalic vein of Markowski. VOGM results in neonatal morbidity and mortality, and premature delivery does not improve the outcome. We report a term female neonate in whom a vein of Galen malformation was diagnosed prenatally at 37 wk of gestation during a growth ultrasound and confirmed by fetal magnetic resonance imaging. Signs of cardiac decompensation were evident in the fetus. Multiple interventional radiology embolizations of the feeding vessels were performed successfully on days 7, 10, 12, 14 and 19. A review of the literature on the endovascular management of neonates with these malformations is presented herein.
PMCID:5296625
PMID: 28224101
ISSN: 2219-2808
CID: 5284772
2q31.1 microdeletion syndrome: case report and literature review [Case Report]
Puvabanditsin, Surasak; February, Melissa; Shaik, Tazeem; Kashyap, Arun; Bruno, Chantal; Mehta, Rajeev
We describe a preterm neonate with bilateral coloboma of the iris, upper and lower limb malformations including rocker bottom feet, camptodactyly, and clinodactyly together with microcephaly and small for gestational age whom cytogenetic diagnosis using SNP microarray detected an interstitial deletion of chromosome 2 between 2q31.1 and 33.1.
PMCID:4498842
PMID: 26185628
ISSN: 2050-0904
CID: 4599232
Cross-neutralization of influenza A viruses mediated by a single antibody loop
Ekiert, Damian C; Kashyap, Arun K; Steel, John; Rubrum, Adam; Bhabha, Gira; Khayat, Reza; Lee, Jeong Hyun; Dillon, Michael A; O'Neil, Ryann E; Faynboym, Aleksandr M; Horowitz, Michael; Horowitz, Lawrence; Ward, Andrew B; Palese, Peter; Webby, Richard; Lerner, Richard A; Bhatt, Ramesh R; Wilson, Ian A
Immune recognition of protein antigens relies on the combined interaction of multiple antibody loops, which provide a fairly large footprint and constrain the size and shape of protein surfaces that can be targeted. Single protein loops can mediate extremely high-affinity binding, but it is unclear whether such a mechanism is available to antibodies. Here we report the isolation and characterization of an antibody called C05, which neutralizes strains from multiple subtypes of influenza A virus, including H1, H2 and H3. X-ray and electron microscopy structures show that C05 recognizes conserved elements of the receptor-binding site on the haemagglutinin surface glycoprotein. Recognition of the haemagglutinin receptor-binding site is dominated by a single heavy-chain complementarity-determining region 3 loop, with minor contacts from heavy-chain complementarity-determining region 1, and is sufficient to achieve nanomolar binding with a minimal footprint. Thus, binding predominantly with a single loop can allow antibodies to target small, conserved functional sites on otherwise hypervariable antigens.
PMCID:3538848
PMID: 22982990
ISSN: 1476-4687
CID: 2291362