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Mucopolysaccharidosis Iva: Current Disease Models And Drawbacks, Andrés Felipe Leal, Carlos Javier Alméciga-Díaz, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) encoding gene. GALNS leads to the lysosomal degradation of the glycosaminoglyccreasans keratan sulfate and chondroitin 6-sulfate. Impaired GALNS enzymes result in skeletal and non-skeletal complications in patients. For years, the MPS IVA pathogenesis and the assessment of promising drugs have been evaluated using in vitro (primarily fibroblasts) and in vivo (mainly mouse) models. Even though value information has been raised from those studies, these models have several limitations. For instance, chondrocytes have been well recognized as primary cells affected in MPS IVA and responsible for …

Contributions To Auditory System Conduction Velocity: Insights With Multi-Modal Neuroimaging And Machine Learning In Children With Asd And Xyy Syndrome, Jeffrey I. Berman, Luke Bloy, Lisa Blaskey, Carissa R. Jackel, Judith S. Miller, Judith Ross, J. Christopher Edgar, Thimothy P.L. Roberts

Department of Pediatrics Faculty Papers

Introduction: The M50 electrophysiological auditory evoked response time can be measured at the superior temporal gyrus with magnetoencephalography (MEG) and its latency is related to the conduction velocity of auditory input passing from ear to auditory cortex. In children with autism spectrum disorder (ASD) and certain genetic disorders such as XYY syndrome, the auditory M50 latency has been observed to be elongated (slowed).

Methods: The goal of this study is to use neuroimaging (diffusion MR and GABA MRS) measures to predict auditory conduction velocity in typically developing (TD) children and children with autism ASD and XYY syndrome.

Results: Non-linear TD …

Design, Development, And Testing Of Best4baby, An Mhealth Technology To Support Exclusive Breastfeeding In India: Pilot Study., Tony Ma, Katie Chang, Amal Alyusuf, Elina Bajracharya, Yukiko Washio, Patricia J Kelly, Roopa M Bellad, Niranjana S Mahantashetti, Umesh Charantimath, Vanessa Short, Parth Lalakia, Frances J. Jaeger, Shivaprasad Goudar, Richard Derman

Department of Pediatrics Faculty Papers

Background: Exclusive breastfeeding (EBF) at 6 months of age in most low- and middle-income countries, including India, is surprisingly low. There is a relative lack of mobile health apps that specifically focus on leveraging the use of peer counselors (PCs) to support mothers as a means of increasing EBF practices in low- and middle-income countries.

Objective: This study aimed to design, develop, and test the usability of Breastfeeding Education Support Tool for Baby (BEST4Baby), a mobile health app specifically designed to support PCs in providing in-home breastfeeding counseling support to mothers in rural India on optimal breastfeeding practices.

Methods: A …

Hearing Loss In Mucopolysaccharidoses: Current Knowledge And Future Directions., Jeremy Wolfberg, Keerthana Chintalapati, Shunji Tomatsu, Kyoko Nagao

Department of Pediatrics Faculty Papers

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency of one of the enzymes involved in the degradation of glycosaminoglycans. Hearing loss is a common clinical presentation in MPS. This paper reviews the literature on hearing loss for each of the seven recognized subtypes of MPS. Hearing loss was found to be common in MPS I, II, III, IVA, VI, and VII, and absent from MPS IVB and MPS IX. MPS VI presents primarily with conductive hearing loss, while the other subtypes (MPS I, MPS II, MPS III, MPS IVA, and MPS VII) can present with …

Mucopolysaccharidosis Iva: Diagnosis, Treatment, And Management., Kazuki Sawamoto, José Víctor Álvarez González, Matthew Piechnik, Francisco J. Otero, Maria L. Couce, Yasuyuki Suzuki, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. The deficiency of this enzyme accumulates the specific glycosaminoglycans (GAG), keratan sulfate, and chondroitin-6-sulfate mainly in bone, cartilage, and its extracellular matrix. GAG accumulation in these lesions leads to unique skeletal dysplasia in MPS IVA patients. Clinical, radiographic, and biochemical tests are needed to complete the diagnosis of MPS IVA since some clinical characteristics in MPS IVA are overlapped with other disorders. Early and accurate diagnosis is vital to optimizing patient management, which provides a …

The Pulmonologist's Role In Caring For Pregnant Women With Regard To The Reproductive Risks Of Diagnostic Radiological Studies Or Radiation Therapy., Robert Brent

Department of Pediatrics Faculty Papers

Radiography of the chest, head, neck, teeth, or extremity exposes the embryo or ovary to insignificant exposures of radiation except when radionuclides are utilized. In some instances, there is no exposure at all. Pulmonologists are fortunate with regard to the specific studies they request to provide clinical care because most of the diagnostic tests do not directly expose the uterus (embryo) or ovary. This article discusses radiation risks and their evaluation and pregnancy-related issues in diagnostic radiological studies.