A5101858545- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Trypanosoma species research and implications
- Biomedical Research and Pathophysiology
- Family and Disability Support Research
- Autism Spectrum Disorder Research
- Child Nutrition and Feeding Issues
- Fetal and Pediatric Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- Cerebral Palsy and Movement Disorders
- Neurogenetic and Muscular Disorders Research
- Advanced Neuroimaging Techniques and Applications
- Neonatal and fetal brain pathology
- Williams Syndrome Research
- Carbohydrate Chemistry and Synthesis
- Cerebrovascular and genetic disorders
- RNA regulation and disease
- Cellular transport and secretion
- Neurological diseases and metabolism
- Erythrocyte Function and Pathophysiology
- Hereditary Neurological Disorders
- Nuclear Structure and Function
- Health Systems, Economic Evaluations, Quality of Life
- Epilepsy research and treatment
- Autoimmune and Inflammatory Disorders Research
University of Minnesota
2014-2025
University of Khartoum
2024
Government Sadiq College Women University
2018
University of Minnesota System
2015-2017
University of Minnesota Medical Center
2013
University of Bahri
2005
Abstract Fabry disease is an X‐linked lysosomal caused by variants in the GLA gene. Although X‐linked, gene females can exhibit a wide range of symptoms, challenging traditional view as recessive disease. A family presented here with 36‐year‐old female who symptomatic chronic kidney and her oligosymptomatic 70‐year‐old father, both whom have heterozygous hemizygous pathogenic variant, respectively, c.1087C>T (p.R363C). Interestingly, proband's Lyso‐GL‐3 levels were lower than father's...
GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease Sandhoff disease) are unrelenting heritable neurodegenerative conditions of lysosomal ganglioside accumulation. Although progressive brain atrophy is characteristic, longitudinal quantification specific structures has not been systematically studied. The goal this study to quantify track MRI volume changes, including structure at different times in progression childhood gangliosidoses, explore quantitative volumetry (qMRI) as a...
Our goal was to describe the neurobehavioral phenotype in mucopolysaccharidosis Type IIIB (MPS IIIB). Parents report that behavioral abnormalities are a major problem MPS III posing serious challenges parenting and quality-of-life for both patient parent. previous research on IIIA identified autistic symptoms, Klüver-Bucy-type syndrome as indicated by reduced startle loss of fear associated with amygdala atrophy. We hypothesized would manifest similar attributes when assessed same...
The behavioral, adaptive and quality of life characteristics attenuated mucopolysaccharidosis type II (MPS II) have not been well studied. Understanding changes over time in the phenotype may assist helping achieve better outcomes long-term function. This longitudinal study investigates these relation to age, somatic disease burden, IQ. Specifically, burden is a major challenge for patients, even with treatment enzyme replacement therapy.
Mucopolysaccharidosis Type IIIA (MPS IIIA) is a neurodegenerative disease with behavioral symptoms unique among the mucopolysaccharidoses. Children MPS reportedly mouth things, explore novel environments almost continuously, disregard danger, and empathize/socialize comply less parents. These characteristics resemble Klüver–Bucy syndrome (K-Bs). To test K-Bs hypothesis, 30 children were compared to 8 "posttransplant" mucopolysaccharidosis IH patients in an experimental "risk room." The room...
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype IA) broadly varies partially, due to restricted permeability blood‐brain barrier (BBB) which limits treatment effects intravenously applied α‐L‐iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution circumvent BBB improved brain outcomes canine models; therefore, our study quantifies IT on...
The mucopolysaccharidoses (MPSs) are a group of rare genetic lysosomal disorders with progressive multisystem involvement. An MPS-specific physical symptom scale was developed and introduced Physical Symptom Score (PSS) to quantify the somatic disease burden across MPS I, II VI. Somatic in patients attenuated VI as measured by PSS will be positively associated age negatively neuropsychological functions [i.e. full intelligence quotient (FSIQ) attention]. Forty-eight I (n = 24), 14), 10) aged...
Mucopolysaccharidosis type I (MPS I) was added to the Recommended Uniform Screening Panel for newborn screening in 2016, highlighting recognition that early treatment of MPS is critical stem progressive, irreversible disease manifestations. Enzyme replacement therapy (ERT) an approved all phenotypes, but because severe form IH, Hurler syndrome) involves rapid neurocognitive decline, impermeable blood-brain-barrier considered obstacle ERT. Instead, hematopoietic cell transplantation (HCT) has...
This follow-up study of a subgroup the patients seen in natural history mucopolysaccharidosis type IIIA (Sanfilippo syndrome A) addressed adaptive and medical characteristics their advanced disease manifestations. Of original 24 patients, specific data was collected on only 58% primarily due to difficulty locating families coordinating time for interviews two four years after study. At last contact with patient, age range 8 age. Data were from telephone Vineland Adaptive Behavior Scales II...
Abstract Background Visceral leishmaniasis (VL) is a significant public health concern in Sudan, particularly among populations exposed to vector-rich environments. This study aims determine the prevalence of VL and associated risk factors Wildlife Soldiers Dinder National Park, Sudan. Methods A descriptive cross-sectional community-based was conducted 500 Park. Data were collected using pre-prepared pre-tested questionnaire covering demographic information, factors, clinical signs symptoms...
The first description of thyroid diseases as they are known today was that Graves disease by Caleb Parry in 1786, but the pathogenesis not discovered until 1882-86. Thyroidectomy for hyperthyroidism performed 1880, and antithyroid drugs radioiodine therapy were developed early 1940s. Thomas Curling described hyopothyroidism (myxoedema) 1850 cause suitable treatment established after 1883. This paper reviews main landmarks history disease, supplemented a brief discussion historically relevant...
We quantified medical signs and symptoms to construct the Physical Symptom Score (PSS) for use in research assess somatic disease burden mucopolysaccharidoses (MPS) track monitor treatments. examined scoring reliability, its concurrent validity with other measures, relationship age MPS type I.Fifty-four patients I (36 Hurler syndrome treated hematopoietic cell transplant 18 attenuated enzyme replacement therapy), ages 5 years, were seen longitudinally over years. The summation of frequency...
Previous research has demonstrated the mutation, c.712T>A (p.L238Q) of gene for α-L- iduronidase (IDUA) in patients with Hurler-Scheie syndrome is relatively severe when paired a nonsense or deletion splice-site mutation. This mutation was also found to be associated psychiatric symptoms. presents longitudinal data and protein analysis further investigate severity natural history these unique patients. Six heterozygous L238Q were compared six without mutations. Somatic burden disease, IQ,...