Browsing by Subject "Developmental Disabilities"
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Item Diagnostic Yield of Cervical Radiographs in Infants with Deformational Plagiocephaly(2014-04-11) Cho, Min-Jeong; Kane, Alex; Derderian, Christopher; Smartt, James M.BACKGROUND: Deformational plagiocephaly is a common condition of infancy in which the child presents with craniofacial asymmetry thought to be due to prenatal/postnatal external molding forces on the cranium. Etiologies may include muscular torticollis, intrauterine constraint (i.e. small maternal pelvis, multiple gestation, or breech position), and supine sleep position. The current standard of care for deformational plagiocephaly is active repositioning or orthotic helmet, and these treatments rely on cranial malleability. Patients with deformational plagiocephaly are frequently referred for cervical radiographs in order to determine whether there is osseous abnormality associated with torticollis. Some clinicians believe that screening cervical radiographs are important to rule out bony abnormalities in this condition, while others believe this is unnecessary due to low prevalence of accompanying osseous deformity. OBJECTIVE: The purpose of this study was to determine the diagnostic yield of cervical radiographs in demonstrating cervical anomalies in a population of infants referred to a tertiary craniofacial center with deformational plagiocephaly (DP). METHODS: After obtaining IRB approval, all patients with diagnosis of DP who underwent cervical radiographs between the years of 2010 to 2012 were reviewed. Cervical radiographic findings as determined by radiologist report, perinatal data, and physical exam findings were recorded, and descriptive statistics were generated. RESULTS: Electronic medical records of 730 patients with diagnosis of DP were reviewed. Abnormal findings were recorded in 6.71% of cervical radiograph reports (n=49/730). Of those with abnormal findings, 59% (n=29/49) demonstrated osseous abnormalities including: clavicle abnormality (n=4), bony fusion (n=10), cervical ribs (n=4), joint instabilities (n=5), and vertebral abnormalities (n=11). Those with non-osseous abnormalities (n=26/49) included head tilt (n=4), abnormal curvature (n=16), and soft tissue prominence (n=6). The other 96% of the study population were without osseous abnormalities. CONCLUSION: There is a fairly low diagnostic yield in ordering cervical radiographs in patients with deformational plagiocephaly. Considering the radiation exposure and cost associated with the practice of ordering routine cervical radiographs in all patients presenting with this DP, an inspection of its inclusion as a necessary step in the diagnostic algorithm is warranted.Item The Functional Roles for SWI/SNF Chromatin Remodeling Complexes in Physiology and Disease(2020-12-01T06:00:00.000Z) Celen, Cemre; Wu, Jiang I.; Zhu, Hao; Olson, Eric N.; Xu, JianSequencing studies have implicated multiple subunits of SWI/SNF complexes in human neurodevelopmental and psychiatric disorders, as well as in cancers. Particularly haploinsufficiency of ARID1B, a SWI/SNF chromatin-remodeling subunit, has been implicated in short stature, autism spectrum disorder, intellectual disability, and corpus callosum agenesis. In addition, ARID1B is the most common cause of Coffin-Siris Syndrome, a developmental delay syndrome characterized by some of the above abnormalities. However, its role in pathologies is not well characterized due to absence of in vivo models. Therefore, in the first part of this thesis, we generated Arid1b heterozygous mice, which showed social behavior impairment, altered vocalization, anxiety-like behavior, neuroanatomical abnormalities, and growth impairment. In the brain, Arid1b haploinsufficiency resulted in changes in the expression of SWI/SNF-regulated genes implicated in neuropsychiatric disorders. A focus on reversible mechanisms identified insulin-like growth factor deficiency with inadequate compensation by Growth Hormone Releasing Hormone and Growth Hormone, underappreciated findings in ARID1B patients. Therapeutically, GH supplementation was able to correct growth retardation and muscle weakness. This model functionally validates the involvement of ARID1B in human disorders and allows mechanistic dissection of neurodevelopmental diseases linked to chromatin-remodeling. ARID1A is a paralogous subunit that is commonly mutated in cancers and plays critical roles in liver regeneration. Chromatin remodeling mechanisms could be generally important for regeneration in other tissues. Since dynamic regulation of β-cell proliferation in pancreatic islets is poorly understood and better understanding could lead to therapeutic approaches for replenishing β-cell mass in type 1 and type 2 diabetes, in the second part of this thesis we focused on the role of ARID1A in β-cells. Arid1a is physiologically suppressed when β-cells proliferate during pregnancy or after pancreas resection. Whole-body Arid1a knockout mice were protected against streptozotocin induced diabetes. Cell-type and temporally specific genetic dissection showed that β-cell specific Arid1a deletion could potentiate β-cell regeneration in multiple contexts. Transcriptomic and epigenomic profiling of mutant islets revealed increased Neuregulin-ERBB-NR4A signaling. Functionally, chemical inhibition of ERBB or NR4A was able to block increased regeneration associated with Arid1a loss. Together, this work defined the role of ARID1A in β-cells and provided new insights into the molecular regulators of β-cell regeneration. Overall, we uncovered important roles of ARID1A and ARID1B-containing SWI/SNF complexes in physiological and disease states.Item [News](1979-12-18) Harrell, AnnItem [News](1975-09-19) Harrell, AnnItem [News](1979-09-06) Spiegel, Richard