نتایج جستجو برای: congenital insensitivity to pain
تعداد نتایج: 10730988 فیلتر نتایج به سال:
BACKGROUND Congenital insensitivity to pain (CIP) (OMIM 243000) is a rare autosomal-recessive disorder. Clinically, CIP is characterized by insensitivity to all modalities of pain except neuropathic pain, and recurrent injuries frequently go unnoticed. CIP is caused by mutations in the SCN9A gene encoding for the Na1.7 channel. METHODS We analyzed the DNA from members of a consanguineous Paki...
Congenital insensitivity to pain with anhidrosis syndrome (CIPA); is a rare autosomal recessive disorder presenting insensitivity, sweating inability, and intellectual disability. The incapability sense temperature often leads recurrent severe inadvertent self-inflicted harm; these can result in complications, as patients settle slowly from skin bone harm. We present case of four-year-old boy d...
Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder presenting with loss of pain sensation, thermal sensation defects, and self-mutilating behavior. In the present study, we recruited two consanguineous pedigree showing pain insensitivity symptoms from Pakistan for clinical and molecular investigations. In family A, one female patient displayed classical CIPA...
Hereditary sensory and autonomic neuropathy (HSAN) is a group of genetic disorders involving varying sensory and autonomic dysfunction. HSAN types IV and V are characterized by congenital generalized loss of pain and thermal sensation. HSAN type IV is additionally accompanied by decreased sweating and intellectual disability. From 2010 to 2013, we (members of the Japanese Research Group on Cong...
Congenital insensitivity to pain is a rare condition with an abnormality of interpretation of painful stimuli. This case report illustrates how a sequence of injuries after no or trivial trauma incapacitated a young boy. Especially the bilateral collapse and dislocation of the hip is an unusual sequela of this disorder.
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