Gotowe bibliografie tematyczne / Congenital Insensitivity to Pain (CIP) Syndrome

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Gotowa bibliografia na temat „Congenital Insensitivity to Pain (CIP) Syndrome”

Autor: Grafiati

Data publikacji: 3 czerwca 2025

Data aktualizacji: 31 lipca 2025

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Artykuły w czasopismach na temat "Congenital Insensitivity to Pain (CIP) Syndrome"

Lawoyin, J., and D. Lawoyin. "Congential insensitivity to pain: report of two cases." Journal of Clinical Pediatric Dentistry 25, no. 2 (2002): 171–74. http://dx.doi.org/10.17796/jcpd.25.2.c473362147p01382.

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Congenital indifference or insensitivity to pain (CIP) is a rare syndrome. It mimics a number of other syndromes categorized under peripheral sensory neuropathies, often making early diagnosis difficult. Two cases from the middle east are presented, highlighting possible diagnostic, and management difficulties.

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Hamdani, Hind, Naoual Mtalai, Sara Ennaki, et al. "Congenital Insensitivity TO Pain: A Case Report." European Journal of Medical and Health Sciences 5, no. 4 (2023): 16–18. http://dx.doi.org/10.24018/ejmed.2023.5.4.1782.

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Congenital insensitivity to pain or more scientifically Hereditary sensory and autonomic neuropathies (HSAN) is a rare genetic disorder which associates a sensory dysfunction with a varying degree of autonomic dysfunction. Due to the peripheral neuropathy, a decreased sensitivity or even complete anesthesia may be present resulting in, on the ophthalmological level, neurotrophic ulcers. We report the case of 2 sisters (JM and KM) presenting with HSAN with recurrent corneal ulcers. Unfortunately, genetic testing couldn’t be performed due to lack of means, but the clinical presentation and featu

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Wheeler, Daniel W., Michael C. H. Lee, E. Katherine Harrison, David K. Menon, and C. Geoffrey Woods. "Case Report: Neuropathic pain in a patient with congenital insensitivity to pain." F1000Research 3 (June 26, 2014): 135. http://dx.doi.org/10.12688/f1000research.2642.1.

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We report a unique case of a woman with Channelopathy-associated Insensitivity to Pain (CIP) Syndrome, who developed features of neuropathic pain after sustaining pelvic fractures and an epidural hematoma that impinged on the right fifth lumbar (L5) nerve root. Her pelvic injuries were sustained during painless labor, which culminated in a Cesarean section. She had been diagnosed with CIP as child, which was later confirmed when she was found to have a null mutation of the SCN9a gene that encodes the voltage-gated sodium channel Nav1.7. She now complains of troubling continuous buzzing in both

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Wheeler, Daniel W., Michael C. H. Lee, E. Katherine Harrison, David K. Menon, and C. Geoffrey Woods. "Case Report: Neuropathic pain in a patient with congenital insensitivity to pain." F1000Research 3 (June 19, 2015): 135. http://dx.doi.org/10.12688/f1000research.2642.2.

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We report a unique case of a woman with Channelopathy-associated Insensitivity to Pain (CIP) Syndrome, who developed features of neuropathic pain after sustaining pelvic fractures and an epidural hematoma that impinged on the right fifth lumbar (L5) nerve root. Her pelvic injuries were sustained during painless labor, which culminated in a Cesarean section. She had been diagnosed with CIP as child, which was later confirmed when she was found to have null mutations of the SCN9A gene that encodes the voltage-gated sodium channel Nav1.7. She now complains of troubling continuous buzzing in both

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Chutanova, Aziza Abdullaivna, and Shahzoda Fayzulloevna Mukhiddinova. "Albinism, Cri Du Chat Syndrome, And Reilly Syndrome (CIPA): Features, Genetics, Diagnosis, And Treatment." European International Journal of Multidisciplinary Research and Management Studies 5, no. 5 (2025): 44–48. https://doi.org/10.55640/eijmrms-05-05-10.

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This article discusses three rare genetic diseases — albinism, Cri du Chat syndrome, and Reilly syndrome (congenital insensitivity to pain with anhidrosis). Their main clinical manifestations, diagnostic methods, features of genetic transmission, and modern approaches to treatment are described. An overview of the impact of these diseases on the quality of life of patients and the prospects for medical care is presented.

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Kundapur, Deeksha, Sheila Yu, and Sylvia Mohanraj. "Congenital Insensitivity to Pain." Meducator 1, no. 33 (2018): 7–8. http://dx.doi.org/10.15173/m.v1i33.1791.

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Pain is an essential sensation that has developed in complex organisms as an evolutionary mechanism to signal impending danger. Without pain, day-to-day functions become incredibly compromised. Pain is responsible for triggering the adoption of protective behaviours, such as physical withdrawal from painful stimuli to for tissue protection. Hereditary sensory and autonomic neuropathy type V (HSAN V), generally known as congenital insensitivity to pain(CIP), is a rare autosomal recessive sensory neuropathy. It is caused by defective nociceptive mechanisms, which result in an inability to experi

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Hamdaoui, Jihane, Pr Samir El Mazouz, Pr Noureddine Gharib, Pr Abdellah Abbassi, and Pr Jawad Hafidi. "Labial Reconstruction for Congenital Insensitivity to Pain: A Case Report." SAS Journal of Surgery 10, no. 04 (2024): 451–53. http://dx.doi.org/10.36347/sasjs.2024.v10i04.011.

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Congenital insensitivity to pain (CIP) is a very rare condition, most often of genetic origin. The authors report the case of a 10-year-old girl, followed for CIP following self-mutilation, particularly serious oro-digital, which is addressed in our training for lip reconstruction. CIP with anhidrosis is a very rare condition. It is characterized by feverish attacks, anhidrosis, absence of painful sensation, self-harm and sometimes mental retardation. Complications of this insensitivity (neglected fractures, burns, oro-digital mutilation) can be life-threatening. The treatment remains preventi

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Drissi, Ichrak, William Aidan Woods, and Christopher Geoffrey Woods. "Understanding the genetic basis of congenital insensitivity to pain." British Medical Bulletin 133, no. 1 (2020): 65–78. http://dx.doi.org/10.1093/bmb/ldaa003.

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Abstract Introduction or background Congenital insensitivity to pain (CIP) is caused by extremely rare Mendelian genetic disorders. CIP individuals demonstrate the unexpectedly severe consequences of painlessness. Although only a small number of causative conditions and genes are known, most have led to profound insights into human nociception. CIP gene discovery is catalyzing the manufacture of completely new classes of analgesics, and these are needed as alternatives to synthetic highly potent opioids. Sources of data Pubmed.gov peer-reviewed journal articles and reviews. Areas of agreement

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Khan, Arshad, Abdullah Khan, Farwa Shoaib, and Muhammad Mujtaba Mujtaba. "CONGENITAL INSENSITIVITY TO PAIN WITHOUT ANHIDROSIS." Khyber Journal of Medical Sciences 16, no. 2 (2023): 109–12. https://doi.org/10.70520/kjms.v16i2.459.

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Congenital Insensitivity to Pain (CIP) is a condition present from birth that inhibits the ability to perceive physical pain. Affected individuals are unable to feel pain in any part of their body. Although they feel discriminative touch, patients are unable to perceive what any person with a normal functioning sensory and autonomic nervous system would describe as painful. They are also unable to distinguish between extremes of both hot and cold temperatures. Congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which

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Makar, Gabriel, Sundeep Kahlon, and Mark Seeley. "Congenital Insensitivity to Pain due to a de novo L369P mutation in the SCN11A gene with Heterotrophic Ossification – A Case Report." Journal of Orthopaedic Case Reports 13, no. 8 (2023): 19–23. http://dx.doi.org/10.13107/jocr.2023.v13.i08.3798.

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Introduction: A male child with congenital insensitivity to pain (CIP) due to a novel de novo L369P mutation in the SCN11A gene was found to have significant bilateral hip flexion contractures, followed by severe heterotopic ossification after contraction release. This is the first report to describe a patient with this specific mutation and subsequent clinical course. Case Report: A male child with CIP due to de novo L369P mutation in the SCN11A gene was found to have significant bilateral hip flexion contractures. The patient underwent bilateral hip contracture releases to improve his standi

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Części książek na temat "Congenital Insensitivity to Pain (CIP) Syndrome"

Hogans, Beth B. "Extremes of Pain." In Pain Care Essentials, edited by Yi Cai Isaac Tong, R. Jason Yong, and Beth B. Hogans. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199768912.003.0018.

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Chapter 17 covers the range of extreme and unusual pain-associated conditions by highlighted selected conditions that illustrate the extent of severe pain and informative aberrations in pain signaling, including congenital insensitivity. Multiple forms of severe intractable pain are addressed, including trigeminal neuralgia, postherpetic neuralgia, phantom limb pain, complex regional pain syndrome, peripheral nerve vasculitis, fibromyalgia, Ehlers-Danlos syndrome, stiff-person syndrome, endometriosis, and erythromelalgia. The preponderance of these conditions are neuropathic in nature, and all

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Benarroch, Eduardo E. "Ion Channels and Channelopathies." In Neuroscience for Clinicians, edited by Eduardo E. Benarroch. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780190948894.003.0014.

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Ion channels are the basic elements regulating activity and communication in the nervous system. They consist of several subunits forming a central pore and are subdivided on the basis of their ion selectivity, gating mechanisms, and kinetics of activation and inactivation. Ion channels form part of macromolecular complexes restricted to specific membrane domains via interactions with scaffold proteins, lipid rafts, and actin cytoskeleton. The selective expression and distribution of ion channels define the electrophysiological properties of the neurons, their axons, and muscle cells. The inte

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