40 publication(s) trouvée(s)
Article scientifique
Improving access to rare disease diagnostics in Africa: insights from a multinational pilot study
BACKGROUND: Rare diseases (RDs) in Africa face challenges such as limited diagnosis, expertise, and treatment. FYMCA Medical Ltd., the International …
Article scientifique
Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya
BACKGROUND: Limited or absent genetic counseling and testing resources in low- and medium-income countries lead to missed or late diagnoses …
Article scientifique
Dentomaxillofacial abnormalities associated with rare bone disease in two pediatric populations from southern Europe and East Africa
BACKGROUND: It is well known that certain bone diseases of congenital origin are associated with dentomaxillofacial (DOMF) disorders. The objective …
Article scientifique
Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants
BACKGROUND: Fructose 1, 6 bisphosphatase (FBPase) deficiency is a rare autosomal recessive disease caused by mutations in the FBP1 gene. …
Article scientifique
Unraveling the mystery of alien hand syndrome: when your hand has a mind of its own
BACKGROUND: Alien Hand Syndrome (AHS) is a rare neurological disorder characterized by involuntary, complex movements of a limb, often with …
Article scientifique
Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients
BACKGROUND: Lysosomal storage diseases (LSDs) is a large group of genetically heterogeneous inherited metabolic disorders that affect the functions of …
Article scientifique
Genetic self-counselors in Tunisia: the role of health education in hemoglobinopathies prevention among high school students
BACKGROUND: In Tunisia, the primary prevention of hemoglobinopathies relies on behavioral changes related to screening and genetic counseling. The progression …
Article scientifique
The effect of the COVID-19 pandemic on epistaxis and anaemia in patients with hereditary haemorrhagic telangiectasia (HHT) in central South Africa
BACKGROUND: Recurrent epistaxis, which frequently results in iron deficiency anaemia and impaired quality of life, is the most frequent complication …
Article scientifique
Life in stop motion: a review of akinetopsia
Akinetopsia is a rare visual cortical disorder in which patients lose the ability to perceive motion. Visual cortical disorders are …
Article scientifique
A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy
BACKGROUND: Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy caused by homozygous or compound heterozygous null variants in the …
Article scientifique
Bone disease and oromaxillofacial disorders: a cross- sectional study in a Tanzanian pediatric population
BACKGROUND: Certain bone diseases of congenital origin are associated with dental alterations and with oromaxillofacial (OMF) disorders. The objective of …
Article scientifique
Off-label use of medicines in South Africa: a review
BACKGROUND: Off-label use of medicinal products has become an important part of mainstream and legitimate medical practice worldwide. This practice …
Article scientifique
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa
BACKGROUND: Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is …
Article scientifique
Pediatric pulmonary multisystem langerhans cell histiocytosis: does lung lesion severity affect the outcome?
BACKGROUND: The pediatric pulmonary multisystem Langerhans cell histiocytosis (PPM LCH) is associated with either low risk or high risk organ(s). …
Article scientifique
Retrospective file review shows limited genetic services fail most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constrained settings
BACKGROUND: Exome sequencing is recommended as a first-line investigation for patients with a developmental delay or intellectual disability. This approach …
Article scientifique
Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum
BACKGROUND: Tay-Sachs disease (TSD), an autosomal recessively inherited neurodegenerative lysosomal storage disease, reported worldwide with a high incidence among population …
Article scientifique
Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study
BACKGROUND: Preliminary data suggest that COVID-19 pandemic has generated a switch from face-to-face to remote care for individuals with chronic …
Article scientifique
Rare diseases in Tanzania: a National Call for Action to address policy and urgent needs of individuals with rare diseases
A rare disease is generally defined as a condition which affects about 1 among 2000 people and currently, there are …
Article scientifique
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group
The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting …
Article scientifique
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
BACKGROUND: Inherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently …
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