Kabuki Syndrome (KS) is a rare genetic disorder characterized by dysmorphic facial features, skeletal anomalies, dermatoglyphic abnormalities, intellectual disability, and short stature. Autoimmune disease can be seen more frequently in this patient population. Vitiligo is an autoimmune disease that is uncommonly reported in patients with KS.
View Article and Find Full Text PDFThe sustaining environments hypothesis theorizes that the lasting effects of PreK programs are contingent on the quality of the subsequent learning environment in early elementary school. The current study tests this theory by leveraging data from students ( = 462) who did and did not enroll in the Boston Public Schools (BPS) prekindergarten (PreK) program as well as features of their kindergarten instruction measured at the child- and classroom-levels using surveys and observations. Taken together, findings revealed limited evidence for the sustaining environments hypothesis.
View Article and Find Full Text PDFConventional cytogenetic analysis of products of conception (POC) is of limited utility because of failed cultures, as well as microbial and maternal cell contamination (MCC). Optical genome mapping (OGM) is an emerging technology that has the potential to replace conventional cytogenetic methods. The use of OGM precludes the requirement for culturing (and related microbial contamination).
View Article and Find Full Text PDFBackground: Healthcare disparities negatively impact patient health outcomes; addressing disparities could improve quality of life and decrease overall healthcare cost. The National Ambulatory Medical Care Survey (NAMCS) is an objective and reliable source for collecting information on United States (U.S.
View Article and Find Full Text PDFSpinal muscular atrophy (SMA) type 0 is the most severe phenotype of SMA and is characterized by hypotonia, muscle weakness, and respiratory distress. Cutaneous necrosis, first described in an SMA mouse model, can occur in patients with severe disease; the use of targeted treatment versus supportive measures in the setting of skin necrosis is debated. We present a male infant with SMA type 0 with cutaneous necrosis of proximal and distal limbs who improved with supportive care.
View Article and Find Full Text PDFThis study examines whether associations between enrollment in public and non-public PreK and children's (N = 508; M = 5.60 years in fall of kindergarten) math and language and literacy outcomes were more likely to be sustained through the spring of kindergarten for unconstrained versus constrained skills. Associations between public PreK and language, literacy, and math outcomes were more strongly sustained through the spring of kindergarten for unconstrained skills, relative to constrained skills.
View Article and Find Full Text PDFJ Investig Med High Impact Case Rep
June 2021
Immunoglobulin A vasculitis (IgAV), formerly known as Henoch-Schönlein purpura, is an immune-mediated small vessel vasculitis characterized by palpable purpura, arthralgia, abdominal pain, and renal disease. It is primarily a childhood disease and usually resolves spontaneously with supportive therapy. Treatment of IgAV in adults is controversial with no clearly established guidelines.
View Article and Find Full Text PDFParental engagement in home-based learning activities is linked to children's academic skills. Yet, interventions that try to enhance parental engagement-sometimes targeted to families with low levels of education-have small effects. This study aimed to inform supports for families by examining how different types of home-based learning activities influence academic skills during prekindergarten.
View Article and Find Full Text PDFIn the USA, there are approximately 12,000 new cases of spinal cord injury (SCI) each year and some 1.2 million people living with paralysis due to SCI. Seven percent of them are paralyzed due to an accident or injury occurring while serving in the military.
View Article and Find Full Text PDFDespite the concussion/ mild traumatic brain injury (mTBI) being the most frequent occurrence of traumatic brain injury, there is still a lack of knowledge on the injury and its effects. To develop a better understanding of concussions, animals are often used because they provide a controlled, rigorous, and efficient model. Studies have adapted traditional animal models to perform mTBI to stimulate mild injury severity by changing the injury parameters.
View Article and Find Full Text PDF