Oral Rehabilitation in Patient With Hereditary Sensory and Autonomic Neuropathy (HSAN) Type V: Clinical Report [PDF]
Case Reports in DentistryHereditary sensory and autonomic neuropathies (HSANs) are rare inheritable syndromes of unknown etiology. They typically appear in early childhood and are categorized into six different types based on their symptoms.
Sana Lala, Ammar Almustafa
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Human TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV. [PDF]
Hum Mol Genet, 2023 A functional nerve growth factor NGF–Tropomyosin Receptor kinase A (TrkA) system is an essential requisite for the generation and maintenance of long-lasting thermal and mechanical hyperalgesia in adult mammals. Indeed, mutations in the gene encoding for
Pacifico P +10 more
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Case report: Hereditary sensory autonomic neuropathy presenting as bifid deformity to the tongue [PDF]
Frontiers in Dental Medicine, 2023 Hereditary sensory autonomic neuropathy (HSAN) is a group of rare genetic disorders in which affected patients have a diminished capacity to feel pain.
Kelsey O’Hagan-Wong +3 more
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A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family [PDF]
Human Genome VariationHereditary sensory and autonomic neuropathy type 6 (HSAN-VI) is a rare autosomal recessive neurological disorder that affects fewer than 1 in 1,000,000 individuals worldwide and is characterized by neonatal hypotonia, respiratory and feeding difficulties,
Asad Munir +12 more
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Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature [PDF]
Brain SciencesWe report a case of hereditary sensory and autonomic neuropathy presenting with childhood-onset symmetric distally predominant limb hypoesthesia to tactile, thermal, and painful stimuli.
Cosmanna Ragucci +9 more
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Detecting infrared UAVs on edge devices through lightweight instance segmentation. [PDF]
PLoS ONEMotivationInfrared unmanned aerial vehicle (UAV) detection for surveillance applications faces three conflicting requirements: accurate detection of pixel-level thermal signatures, real-time processing capabilities, and deployment feasibility on resource-
YuZhi Chen +5 more
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The neuropathy-linked protein TECPR2 is a Rab5 effector that regulates cargo recycling from early endosomes [PDF]
Nature CommunicationsSmall GTP-binding proteins of the Rab, Arf, and Arf-like family mediate the recruitment of their effectors to subcellular membrane-bound compartments, which in turn mediate vesicle budding, motility, and tethering.
Sankalita Paul +12 more
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Sensorimotor control in the congenital absence of functional muscle spindles [PDF]
Experimental PhysiologyHereditary sensory and autonomic neuropathy type III (HSAN III), also known as familial dysautonomia or Riley–Day syndrome, results from an autosomal recessive genetic mutation that causes a selective loss of specific sensory neurones, leading to greatly
Vaughan G. Macefield +4 more
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Hereditary Sensory and Autonomic Neuropathy V: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2023 Hereditary Sensory and Autonomic Neuropathy (HSAN) are a group of rare inherited disorders that comprises a varied set of disorders which mainly present with sensory dysfunction and deficits in autonomic functions, along with other associated ...
GK Pallavi Urs +3 more
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Painless self-mutilation − A case of hereditary sensory autonomic neuropathy type 4
Indian Journal of Paediatric Dermatology, 2022 Children with hereditary sensory and autonomic neuropathy (HSAN) Type IV present with loss of pain and temperature sensation and anhidrosis. They may sometimes exhibit aggressive and self-mutilating behavior. We present here the case of a 5-year-old male
Prateek Pathak +3 more
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