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A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant-Checkerboard and Phylloid Type of Pigmentary Mosaicism.
J Pediatr Genet
December 2024
Centre for Human Genetics, Bengaluru, Karnataka, India.
Neuronal ceroid lipofuscinosis-type 1 (NCL-1) is a neurodegenerative lysosomal storage disorder. Vitamin D-dependent rickets type 1 (VDDR-1) is a rare cause of refractory rickets. Here, we report an unusual association of NCL-1 with VDDR-1.
View Article and Find Full Text PDFCould Fahr's Syndrome Have More Than One Simultaneous Etiology?
Cureus
December 2021
Internal Medicine Department, Federal University of Parana, Curitiba, BRA.
Fahr's syndrome is a rare, genetically dominant, inherited, neurological disorder characterized by abnormal deposits of calcium in the basal ganglia and the cerebral cortex. Symptoms include motor dysfunction, dementia, headache, spastic paralysis, abnormal ocular findings and seizures. Hypoparathyroidism is the most common endocrine disorder related to this syndrome, however, there are other metabolic, infectious and genetic causes.
View Article and Find Full Text PDFSymptomatic spinal cord compression: an uncommon symptom in pseudohypoparathyroidism.
Ann N Y Acad Sci
November 2021
Department of Endocrinology, Shengjing Hospital of China Medical University, Shenyang, Liaoning, PR China.
We describe symptomatic spinal cord compression associated with pseudohypoparathyroidism (PHP) in a young female patient and reviewed similar cases previously reported in the literature. The characteristics of these cases were analyzed from etiology, clinical subtypes, symptoms, treatment, and prognosis. Neurological examination revealed functional upper extremities with bilateral lower extremity paraplegia.
View Article and Find Full Text PDFCrotalus oreganus concolor: Envenomation Case with Venom Analysis and a Diagnostic Conundrum of Myoneurologic Symptoms.
Wilderness Environ Med
June 2020
School of Biological Sciences, University of Northern Colorado, Greeley, CO.
A case of midget-faded rattlesnake (Crotalus oreganus concolor) envenomation of an adult male professional herpetologist occurred in a rural setting and resulted in an array of venom induced myoneurologic symptoms. The patient experienced blurry vision, total body paresthesia, dyspnea, chest tightness, and waves of spastic muscle movements of the hands and feet that resembled tetany. It was not apparent whether these symptoms were potentially venom induced or were related to stress-induced physiologic responses.
View Article and Find Full Text PDFHybrid Machine Learning Models for Predicting Types of Human T-cell Lymphotropic Virus.
IEEE/ACM Trans Comput Biol Bioinform
January 2022
Life threatening diseases like adult T-cell leukemia, neurodegenerative diseases, and demyelinating diseases such as HTLV-1 based myelopathy/tropical spastic paraparesis (HAM/TSP), hypocalcaemia, and bone lesions are caused by a group of human retrovirus known as Human T-cell Lymphotropic virus (HTLV). Out of the four different types of HTLVs, HTLV-1 is most prominent in scourging over 20 million people around the world and still not much effort has been made in understanding the epidemiology and controlling the prevalence of this virus. This condition further worsens when most of the infected cases remain asymptomatic throughout their lifetime due to the limited diagnostic methods; that are most of the times unavailable for timely detection of infected individuals.
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