Mostrando entradas con la etiqueta congénita. Mostrar todas las entradas
Mostrando entradas con la etiqueta congénita. Mostrar todas las entradas

martes, 8 de agosto de 2017

Insensibilidad congénita al dolor / Congenital insensitivity to pain

Agosto 4, 2017. No. 2770





Visite M_xico
Insensibilidad congénita al dolor: Actualización
Congenital insensitivity to pain: an update.
Pain. 2003 Feb;101(3):213-9
The description of individuals with congenital insensitivity and indifference to pain provided one of the bases for Melzack and Casey's (1968) seminal distinction between the sensory and affective components of pain. In addition, the observation that these people often die in childhood because they fail to notice injuries and illnesses has been viewed as compelling evidence that the ability to perceive pain has great survival value. That is, the sensation of pain protects humans (and other species) from the tissue-damaging effects of dangerous stimuli, and appears to be critical for survival of the organism

Insensibilidad congénita al dolor. Un caso con implicaciones dentales
Congenital Insensitivity to Pain: A Case Report with Dental Implications
Abstract
Congenital insensitivity to pain is a rare disorder seen in early childhood. Five different types of hereditary sensory and autonomic neuropathy have been identified, to date, with different patterns of sensory and autonomic dysfunction, peripheral neuropathy, clinical features, and genetic abnormalities. Absence of pain and self-mutilation are characteristic findings of this syndrome. Teeth in the oral cavity can cause damage to the oral tissues and tongue. When diagnosed, there should be cooperation between the dentist and neurologist. Using an oral shield prevents biting, and thus tissue trauma can be prevented. Here, we present the case of a 6-month-old boy with congenital insensitivity to pain (hereditary sensory and autonomic neuropathies; HSAN type V) with self-mutilation injuries to his tongue and fingers caused by biting, along with a discussion of treatment strategies. The results of this report suggest that early diagnosis and specific dental management for patients with congenital insensitivity to pain are important for prevention of the characteristic oral and dental problems accompanying this disorder.
Key words Congenital insensitivity;  Dental implications;  Neuropathy;  Pedodontics
Insensibilidad congénita al dolor con anhidrosis. Diagnóstico clínico, evolución y complicaciones. Reporte de un caso.
Dr. Byron Orlando Albuja Echeverríaa, Dra. Mayra Bersabeth Alvear Lozanoa y  Dra. Carla Patricia Ordóñez Paredesa
Arch Argent Pediatr 2014;112(5):e200-e205  /  e200
RESUMEN
La insensibilidad congénita al dolor con anhidrosis es una enfermedad autosómica recesiva infrecuente, que se produce por mutaciones en el gen NTRK1 (neurotrophic tyrosine receptor kinase 1), localizado en el cromosoma 1q21-22, que codifica el dominio tirosinasa del receptor de alta afinidad del factor de crecimiento nervioso. Se caracteriza por anhidrosis, insensibilidad a los estímulos dolorosos y retraso mental. Dada su baja prevalencia y los pocos casos reportados, es importante conocer sus principales características para considerarlo entre los diagnósticos diferenciales en la práctica pediátrica. Realizamos la descripción del diagnóstico clínico, complicaciones, secuelas y tratamiento sintomático administrado en una niña de 3 años y 6 meses en el Hospital Asdrúbal de la Torre, Cotacachi, Ecuador. 
Palabras clave: congénito, insensibilidad, dolor, anhidrosis.
Insensibilidad congénita al dolor con anhidrosis asociado a osteomielitis mandibular. Reporte de un caso.
Alberto Campos Molina, José del Carmen Martínez Miranda, Vladimir De la Riva Parra
Revista Mexicana de Cirugía Bucal y Maxilofacial 2012;8 (1): 18-2
Resumen
La insensibilidad congénita al dolor con anhidrosis (CIPA, por sus siglas en inglés) es una neuropatía hereditaria sensorial y autónoma tipo IV, enfermedad rara autosómica recesiva caracterizada principalmente por insensibilidad al dolor, ausencia de sudoración y retraso mental. El trastorno se ha asociado a mutación en el gen NTRK1 localizado en el cromosoma 1. Fue descrito por Dearborn en 1932 como trastorno de la percepción del dolor congénito, se han reportado casos en la literatura con osteomielitis y mutilaciones distales de los dedos y ausencia de dolor. Se reporta el caso de una paciente de cuatro años de edad con CIPA caracterizado por osteomielitis mandibular y ausencia de dolor, fue tratada con curetaje óseo, y se obtuvo regeneración ósea a los tres meses de la intervención quirúrgica.
Palabras clave: Insensibilidad congénita al dolor con anhidrosis, gen NTRK1, osteomielitis mandibular

XIV Congreso Virtual Mexicano de Anestesiología 2017
Octubre 1-Diciembre 31, 2017
Información / Information
El Comité Ejecutivo de la IASP insta a Venezuela a centrarse en el acceso a medicamentos para el dolor a la luz de escasez crítica
IASP Executive Committee Urges Venezuela to Focus on Access to Pain Medications in Light of Critical Shortages
As the leading global organization that brings together scientists, clinicians, health-care providers, and policymakers to stimulate and support the study of pain with the goal of improved pain relief worldwide, the International Association for the Study of Pain (IASP) has been made aware that difficult conditions in Venezuela have resulted in inadequate access to pain treatment.
Like us on Facebook   Follow us on Twitter   Find us on Google+   View our videos on YouTube 
Anestesiología y Medicina del Dolor

52 664 6848905

lunes, 7 de agosto de 2017

Más de insensibilidad congénita al dolor/ More on congenital insensitivity to pain

Agosto 6, 2017. No. 2772






Visite M_xico
Indiferencia congénita al dolor
Congenital Indifference to Pain Adelaida Álvarez C.*, Simón P. Aristizábal L.**, Luis E
Rev. Col. Anest. Noviembre 2010 - enero 2011. Vol. 38 - No. 4: 528-535
Resumen
Introducción. En la fase aguda, el dolor ejerce un mecanismo natural de protección. No obstante, existen dos trastornos congénitos cuya característica principal es una baja o nula reactividad al trauma: la insensibilidad congénita al dolor y la indiferencia congénita al dolor. Esta última es una condición poco común en la que a pesar de no existir anormalidades neurológicas en las vías del dolor, el individuo carece de una respuesta emocional a la lesión tisular. Objetivos. Presentar el caso de una niña con indiferencia congénita al dolor y hacer revisión de la fisiopatología y una aproximación diagnóstica. Metodología y resultados. Presentación de caso clínico. Conclusiones. El diagnóstico de indiferencia congénita al dolor es básicamente un diagnóstico de exclusión y dado que aún no se conoce cura para este trastorno, la prevención, la educación y el tratamiento interdisciplinario son lo primordial en estas entidades.
Las mutaciones NaV1.9 del canal de sodio asociadas con la insensibilidad al dolor disminuyen la excitabilidad neuronal.
Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.
J Clin Invest. 2017 Jun 30;127(7):2805-2814. doi: 10.1172/JCI92373. Epub 2017 May 22.Abstract
Voltage-gated sodium channel (NaV) mutations cause genetic pain disorders that range from severe paroxysmal pain to a congenital inability to sense pain. Previous studies on NaV1.7 and NaV1.8 established clear relationships between perturbations in channel function and divergent clinical phenotypes. By contrast, studies of NaV1.9 mutations have not revealed a clear relationship of channel dysfunction with the associated and contrasting clinical phenotypes. Here, we have elucidated the functional consequences of a NaV1.9 mutation (L1302F) that is associated with insensitivity to pain. We investigated the effects of L1302F and a previously reported mutation (L811P) on neuronal excitability. In transfected heterologous cells, the L1302F mutation caused a large hyperpolarizing shift in the voltage-dependence of activation, leading to substantially enhanced overlap between activation and steady-state inactivation relationships. In transfected small rat dorsal root ganglion neurons, expression of L1302F and L811P evoked large depolarizations of the resting membrane potential and impaired action potential generation. Therefore, our findings implicate a cellular loss of function as the basis for impaired pain sensation. We further demonstrated that a U-shaped relationship between the resting potential and the neuronal action potential threshold explains why NaV1.9 mutations that evoke small degrees of membrane depolarization cause hyperexcitability and familial episodic pain disorder or painful neuropathy, while mutations evoking larger membrane depolarizations cause hypoexcitability and insensitivity to pain.

¿Podemos compartir un dolor que nunca sentimos? Correlaciones neuronales de empatía en pacientes con insensibilidad congénita al dolor.
Can we share a pain we never felt? Neural correlates of empathy in patients with congenital insensitivity to pain.
Neuron. 2009 Jan 29;61(2):203-12. doi: 10.1016/j.neuron.2008.11.023.
Abstract
Theories of empathy differ regarding the relative contributions of automatic resonance and perspective taking in understanding others' emotions. Patients with the rare syndrome of congenital insensitivity to pain cannot rely on "mirror matching" (i.e., resonance) mechanisms to understand the pain of others. Nevertheless, they showed normal fMRI responses to observed pain in anterior mid-cingulate cortex and anterior insula, two key regions of the so-called "shared circuits" for self and other pain. In these patients (but not in healthy controls), empathy trait predicted ventromedial prefrontal responses to somatosensory representations of others' pain and posterior cingulate responses to emotional representations of others' pain. These findings underline the major role of midline structures in emotional perspective taking and understanding someone else's feeling despite the lack of any previous personal experience of it--an empathic challenge frequently raised during human social interactions.

Dolor emocional sin dolor sensorial - ¿Sueño?
Emotional pain without sensory pain--dream on?
Neuron. 2009 Jan 29;61(2):153-5. doi: 10.1016/j.neuron.2009.01.003.
Abstract
The article by Danziger and colleagues in this issue of Neuron evaluates empathy in a unique population--individuals with congenital insensitivity to pain. As such, it provides insights into the brain's ability to evaluate others' feeling to observed pain without having a specific sensory experience of pain itself.

XIV Congreso Virtual Mexicano de Anestesiología 2017
Octubre 1-Diciembre 31, 2017
Información / Information
California Society of Anesthesiologists
Reuniones / Events
Like us on Facebook   Follow us on Twitter   Find us on Google+   View our videos on YouTube 
Anestesiología y Medicina del Dolor

52 664 6848905