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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons™
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Articles 1 - 5 of 5
Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Encephaloceles: A Comprehensive Exploration Of Research, Causes, Prevention, And Innovative Approaches To Diagnosis And Treatment, Amanda N. Bautista
Encephaloceles: A Comprehensive Exploration Of Research, Causes, Prevention, And Innovative Approaches To Diagnosis And Treatment, Amanda N. Bautista
Mako: NSU Undergraduate Student Journal
Encephaloceles, a rare medical condition derived from Greek words meaning "brain hernia," involve the protrusion of brain tissue, cerebrospinal fluid, or membranes through a defect in the skull. These anomalies often present at birth and can occur in various locations on the skull. Recent research has shed light on the possible causes of encephaloceles, including genetic factors such as the Sonic Hedgehog pathway and inadequate folic acid intake during pregnancy. Folic acid is essential for proper neural tube closure during fetal development, making it a key preventive measure.
Emerging treatments for encephaloceles show promise, with a focus on mesenchymal stem …
Incorporating Poi As A Therapeutic Modality For Preschool Aged Children In The Care Clinic, Danielle Zirkle
Incorporating Poi As A Therapeutic Modality For Preschool Aged Children In The Care Clinic, Danielle Zirkle
Department of Occupational Therapy Entry-Level Capstone Projects
No abstract provided.
A Brief Overview Of Triple A Syndrome, Jamaal Khan
A Brief Overview Of Triple A Syndrome, Jamaal Khan
Mako: NSU Undergraduate Student Journal
Triple A Syndrome, also known as AAA Syndrome, is a rare autosomal recessive disorder caused by any mutation in the AAAS gene on chromosome 12q13, whose main function is to code for the WD-repeat family regulatory protein, ALADIN. It typically occurs as a group of diseases that are characterized by alacrima, Addison's disease, and achalasia. Alacrima can be defined by a decrease in the amount of tears produced while achalasia is nerve damage in the esophagus that can cause difficulty swallowing. Lastly, Addison's disease is the insufficient production of cortisol and aldosterone produced by the adrenal cortex. There is no …
Genomic Education – Bench To Bedside: A Novel Approach To Teaching Genetic Diagnosis, J. Keith Williams, Michael M. Segal, Lynn K. Feldman
Genomic Education – Bench To Bedside: A Novel Approach To Teaching Genetic Diagnosis, J. Keith Williams, Michael M. Segal, Lynn K. Feldman
Internet Journal of Allied Health Sciences and Practice
Problem: Teaching genetic diagnosis is required in all medical schools and physician assistant programs. However, with thousands of relevant findings and thousands more rare diseases, lectures and narrative resources are inadequate for the task. Whatever information that is taught is easily forgotten and does not carry over into the clinic. Many rare disease patients suffer through “diagnostic odysseys” (3 to 30 years to correct diagnosis). Approach: We used a commercially available diagnostic decision support system (DDSS) that encompasses all Mendelian disorders with known genes, together with other conditions in their differential diagnosis, and a case-based educational approach to teach diagnostic …
Neverland: A Critical Autoethnography Of Aging With Cystic Fibrosis, Alexandra Ch Nowakowski
Neverland: A Critical Autoethnography Of Aging With Cystic Fibrosis, Alexandra Ch Nowakowski
The Qualitative Report
In this autoethnography, I analyze stereotypes and misconceptions about people with cystic fibrosis (CF). I examine these illness representations and their social underpinnings through critical analysis of my journey to conclusive diagnosis with CF after first being tested for the disease in early life, and the events that have followed from that turning point. Using experiential data and prior research, I explore and refute harmful misconceptions about life with CF. I challenge the notion that people with CF never grow old. I also contest the idea that people who receive conclusive diagnoses during adulthood only then transition into patient identities. …