Publications by authors named "Anna M Lehman"
Sialic acids are important components of glycoproteins and glycolipids essential for cellular communication, infection, and metastasis. The importance of sialic acid biosynthesis in human physiology is well illustrated by the severe metabolic disorders in this pathway. However, the biological role of sialic acid catabolism in humans remains unclear.
View Article and Find Full Text PDFObjective: To describe the clinical presentation and genotype of subjects with aniridia with a particular focus on foveal hypoplasia.
Design: Prospective cohort study.
Participants: Thirty-three Canadian participants with aniridia and of various ethnic backgrounds residing in British Columbia.
Background: Inherited heart rhythm disorders (IHRDs) are complex and uncommon arrhythmogenic conditions that can lead to sudden unexpected death in seemingly healthy individuals. Multidisciplinary programs can assist in the diagnostic testing of potentially affected individuals and their family members.
Methods: Patients evaluated in a specialized adult and pediatric IHRD clinic between April 2013 and February 2015 were characterized.
Background: Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of metabolism, since many of these disorders are responsive to therapy that targets pathophysiological features at the molecular or cellular level.
View Article and Find Full Text PDFArticle Synopsis
- * Researchers found different mutations in the CA5A gene that affect the enzyme carbonic anhydrase VA (CA-VA), including a harmful mutation that reduced enzyme activity, leading to metabolic issues.
- * Administering carglumic acid successfully treated the high ammonia levels in three of the children, suggesting that CA-VA deficiency should be included in diagnoses for hyperammonemia in infants and young children.
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS). Conversely, the 14 subunits in the IFT-B module, with the exception of IFT80, have unknown roles in human disease.
View Article and Find Full Text PDFThis report describes a 4 year-old girl with history of hypotonia, developmental delay, and failure to thrive in infancy. She has cognitive impairment and multiple congenital anomalies, including Duane anomaly, Mondini malformation with associated deafness, external ear malformations, and atrial and ventricular septal defects. Array comparative genomic hybridization demonstrated a de novo tandem 6.
View Article and Find Full Text PDFWe report on the 46th patient with Schinzel-Giedion syndrome (SGS) and the first observation of splenopancreatic fusion in this syndrome. In the antenatal period, a male fetus was found to have bilateral hydronephrosis. Postnatally, in keeping with a diagnosis of SGS, there were large fontanelles, ocular hypertelorism, a wide, broad forehead, midface retraction, a short, upturned nose, macroglossia, and a short neck.
View Article and Find Full Text PDFObjective: Given the high rate of psychiatric comorbidity with chronic fatigue syndrome (CFS), we considered two possible correlates of anxiety and depression: lack of illness legitimization and beliefs about limiting physical activity.
Method: A total of 105 people diagnosed with CFS reported on their experiences with medical professionals and their beliefs about recovery and completed the depression and anxiety subscales of the Brief Symptom Inventory.
Results: Those who said that their physician did not legitimize their illness (36%) had higher depression and anxiety scores (P's<.