Abstract Background: Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis that is characterized by diffuse hyper- and hypopigmented spots on the skin and mucous membranes. It is caused by a pathogenic mutation of the KITLG gene. Objectives: To investigate the clinical featur...
Abstract Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with specific mutations. T...
El Síndrome de Apert llamado también acrocefalosin-dactilia tipo I, está caracterizado por craneosinostosis, sindactilia simétrica en las cuatro extremidades, retardo mental, alteraciones cutáneas y maxilofaciales; está ocasionado por una mutación en el gen receptor 2 del factor de crecimiento fib...
Canu, Letizia;
Pradella, Silvia;
Rapizzi, Elena;
Fucci, Rossella;
Valeri, Andrea;
Briganti, Vittorio;
Giachè, Valentino;
Parenti, Gabriele;
Ercolino, Tonino;
Mannelli, Massimo.
SUMMARY Metastatic pheochromocytomas (PHEOs) and paragangliomas (sPGLs) are rare neural crest-derived tumors with a poor prognosis. About 50% of them are due to germ-line mutations of the SDHB gene. At present, there is no cure for these tumors. Their therapy is palliative and represented by different op...
Inhibidores de la Angiogénesis/uso terapéutico,
Antineoplásicos/uso terapéutico,
Indoles/uso terapéutico,
Mutación/genética,
Metástasis de la Neoplasia,
Paraganglioma/irrigación sanguínea,
Paraganglioma/tratamiento farmacológico,
Paraganglioma/genética,
Pirroles/uso terapéutico,
Succinato Deshidrogenasa/genética,
Sunitinib,
Resultado del Tratamiento
ABSTRACT When the FLT3 gene is mutated, it originates a modified receptor with structural changes, which give survival advantage and malignant hematopoietic cell proliferation. Thus, the presence of mutations in this gene is considered an unfavorable prognostic factor. A total of 85 consecutive samples o...
l síndrome orofaciodigital , es un grupo heterogéneo de trastornos del desarrollo de los cuales se han documentado al menos 13 variantes clínicas(1-3).Se transmite como un rasgo dominante ligado al cromosoma X. Se han reportado pocos casos en varones, ya que en gen...
Anomalías Congénitas/diagnóstico,
Anquiloglosia,
Cromosoma X/genética,
Estructuras Embrionarias,
Herencia,
Ictiosis/diagnóstico,
Labio/fisiopatología,
Mutación/genética,
Polidactilia/genética,
Porencefalia,
Hipertelorismo/diagnóstico,
Braquidactilia,
Maloclusión,
Mandíbula,
Paladar Blando
Abstract Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity. This is the first report of a unique autosomal recessive Inherited Palmoplantar keratoderma -sensorine...
Secuencias de Aminoácidos/genética,
Fármacos Anti-VIH/uso terapéutico,
Ácido Aspártico/genética,
China,
Hepatitis B Crónica/tratamiento farmacológico,
Hepatitis B Crónica/genética,
Lamivudine/uso terapéutico,
Metionina/genética,
Mutación/genética,
Reacción en Cadena en Tiempo Real de la Polimerasa,
Tirosina/genética,
Tirosina/uso terapéutico
A ausência de uma explicação definitiva sobre as causas que levaram ao desenvolvimento do autismo em seus filhos é um enigma que gera grande sofrimento aos pais e dificuldades aos profissionais da saúde. Neste estudo foi realizada uma revisão crítica sobre as possíveis causas da síndrome autista...
Síndrome de Asperger/psicología,
Trastorno del Espectro Autista/psicología,
Trastorno Autístico/psicología,
Mutación/genética,
Neuronas,
Vacunas,
Embarazo/genética,
Defensa de las Personas con Discapacidad,
Preparaciones Farmacéuticas,
Causalidad,
Personal de Salud/psicología
ABSTRACT INTRODUCTION: Several mitochondrial DNA mutations have been reported to be associated with nonsyndromic hearing loss in several families. However, little is known about the prevalence of these mutations in sporadic patients with nonsyndromic sensorineural hearing loss. OBJECTIVE: The purpose...
