Results 201 to 210 of about 8,980,141 (293)

Cerebral Small Vessel Disease in Immune‐Mediated Thrombotic Thrombocytopenic Purpura Patients During the Acute Phase and Disease Remission

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Immune‐mediated thrombotic thrombocytopenic purpura (iTTP) is a life‐threatening thrombotic microangiopathy characterized by acute neurological manifestations and long‐term sequelae related to microvascular brain injury. Cerebral small vessel disease (cSVD), detectable on MRI through lacunes, microbleeds, white matter hyperintensities, and ...
Addolorata Truma   +13 more
wiley   +1 more source

Authors' Response. [PDF]

open access: yesIndian J Med Res
Abhishek A   +38 more
europepmc   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun   +7 more
wiley   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh   +5 more
wiley   +1 more source

Correction: Sine Spin flat detector CT can improve cerebral soft tissue imaging: a retrospective in vivo study. [PDF]

open access: yesEur Radiol Exp
Schmitt N   +7 more
europepmc   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf   +7 more
wiley   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness   +11 more
wiley   +1 more source

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