Pediatrics Commons^™

Primary Ciliary Dyskinesia: Ancestral Haplotypes Analysis Of The Rsph4a Founder Mutation In Puerto Rico, Wilfredo De Jesús-Rojas, Dalilah Reyes De Jesús, Angélica M Nieves, Ricardo A Mosquera, Juan C Martinez-Cruzado

Faculty, Staff and Student Publications

Genetic mutations in >50 genes, including RSPH4A, can lead to primary ciliary dyskinesia (PCD). RSPH4A mutations affect radial spokes, which alter the configuration of the ciliary ultrastructure and lead to chronic oto-sinopulmonary disease. The RSPH4A [c.921+3_6delAAGT] founder mutation was described as one cause of PCD without laterality defects in Puerto Rico. The average Puerto Rican genetic composition includes 64% European, 21% African ancestral, and 15% Native-American or Taino, a native tribe in the Caribbean at the start of the European colonization, genes. Due to the relatively elevated Taino ancestry on the island, it might have contributed to the endemicity of …

Indications For Inpatient Magnetoencephalography In Children - An Institution's Experience, Michael W Watkins, Ekta G Shah, Michael E Funke, Stephanie Garcia-Tarodo, Manish N Shah, Nitin Tandon, Fernando Maestu, Christopher Laohathai, David I Sandberg, Jeremy Lankford, Stephen Thompson, John Mosher, Gretchen Von Allmen

Faculty, Staff and Student Publications

Magnetoencephalography (MEG) is recognized as a valuable non-invasive clinical method for localization of the epileptogenic zone and critical functional areas, as part of a pre-surgical evaluation for patients with pharmaco-resistant epilepsy. MEG is also useful in localizing functional areas as part of pre-surgical planning for tumor resection. MEG is usually performed in an outpatient setting, as one part of an evaluation that can include a variety of other testing modalities including 3-Tesla MRI and inpatient video-electroencephalography monitoring. In some clinical circumstances, however, completion of the MEG as an inpatient can provide crucial ictal or interictal localization data during an ongoing …

Hippo-Yap Pathway Orchestrates Neural Crest Ontogenesis, Xiaolei Zhao, Tram P Le, Shannon Erhardt, Tina O Findley, Jun Wang

Faculty, Staff and Student Publications

Neural crest (NC) cells are a migratory stem cell population in vertebrate embryogenesis that can give rise to multiple cell types, including osteoblasts, chondrocytes, smooth muscle cells, neurons, glia, and melanocytes, greatly contributing to the development of different tissues and organs. Defects in NC development are implicated in many human diseases, such as numerous syndromes, craniofacial aberration and congenital heart defects. Research on NC development has gained intense interest and made significant progress. Recent studies showed that the Hippo-Yap pathway, a conserved fundamental pathway with key roles in regulation of cell proliferation, survival, and differentiation, is indispensable for normal NC …

Extensive Mycobacterium Abscessus Pneumonia In An Immunocompetent Infant With No Underlying Lung Pathology, Morouge M Alramadhan, James R Murphy, Michael L Chang

Faculty, Staff and Student Publications

Pulmonary infection due to Mycobacterium abscessus occurs in patients with cystic fibrosis, but rarely in immunocompetent children without underlying lung pathology. Treatment is complicated by frequent resistance to many antibiotics. We present a case report of a 4-month-old female infant with 2 months of cough, difficulty feeding, and failure to thrive, with extensive culture-confirmed M. abscessus pulmonary infection without identified immunodeficiency or underlying lung pathology following multidisciplinary evaluation. We describe our complete evaluation including immunodeficiency evaluation incorporating whole-exome sequencing, describe our antibiotic selection and treatment duration given complicated susceptibility pattern of the M. abscessus isolate, and review literature for nontuberculous …

Age Of Acquisition Impacts The Brain Differently Depending On Neuroanatomical Metric, Hannah Claussenius-Kalman, Kelly A Vaughn, Pilar Archila-Suerte, Arturo E Hernandez

Faculty, Staff and Student Publications

Although researchers generally agree that a certain set of brain areas underlie bilingual language processing, there is discrepancy regarding what effect timing of language acquisition has on these regions. We aimed to investigate the neuroanatomical correlates of age of acquisition (AoA), which has been examined previously, but with inconsistent results, likely influenced by methodological differences across studies. We analyzed gray matter density, volume, and thickness using whole-brain linear models in 334 bilinguals and monolinguals. Neuroanatomical correlates of AoA differed depending on gray matter metric. Relative to early bilinguals, late bilinguals had thicker cortex in language processing and cognitive control regions, …

Pediatric Immunization Practices In Nephrotic Syndrome: An Assessment Of Provider And Parental Knowledge, Cheryl L Tran, David T Selewski, Gia J Oh, Jonathan P Troost, Susan F Massengill, Samhar I Al-Akash, Shefali Mahesh, Rasheda Amin, Isa F Ashoor, Rahul Chanchlani, Mahmoud Kallash, Robert P Woroniecki, Debbie S Gipson

Faculty, Staff and Student Publications

Background: Children with nephrotic syndrome (NS) are at high risk for vaccine-preventable infections due to the immunological effects from the disease and concurrent treatment with immunosuppressive medications. Immunizations in these patients may be deferred due to their immunosuppressive treatment which may increase the risk for vaccine-preventable infections. Immunization practices in children with NS continue to vary among pediatric nephrologists. This raises the question of whether children with NS are receiving the recommended vaccinations at appropriate times. Therefore, it is critical to understand the practices and patient education provided by physicians to patients on the topic of vaccinations.

Methods: After informed …