Amiloidosis neural como forma de presentación de una hernia discal lumbar

Amyloidosis is defined as a group of diseases characterized by extracellular deposits of fibrillar tissue, which can be primary or secondary, localized or systemic. The amount of damaged tissue determines the patient’s symptoms and signs, which can also include those characteristic of the underlying disease in cases of secondary amyloidosis. There are several forms of presentation of this disease. Kidney, heart, liver or peripheral nerve lesions are predominant. However, unusual forms, diagnosed in biopsies of tissue from local exeresis of tumors, are described. The case of a patient who was diagnosed a lumbar disc herniation by magnetic resonance imaging is reported.  During surgery, an intraradicular tumor was found, which was identified as an amyloid lesion in the pathology study. This paper discusses the characteristics of the case and conducts a review of the literature. It stresses again the importance of suspicion of the disease in any patient with underlying illnesses that can potentially cause amyloidosis, as well as the presence of proteinuria or auto-inflammatory syndromes, being the pathology study of vital importance for the diagnosis.La amiloidosis se define como un grupo de  enfermedades caracterizadas por depósitos extracelulares de tejido fibrilar y puede ser primaria o secundaria y localizada o sistémica; la cantidad de tejido dañado determina sus síntomas y sus signos, a los que pueden sumarse los propios de la enfermedad subyacente en casos de amiloidosis secundaria. Múltiples son las formas de presentación de esta enfermedad, predominan las lesiones renales, las cardíacas, las del hígado o de los nervios periféricos, aunque son descritas formas  inusuales diagnosticadas en las biopsias  de tejidos procedentes de exeresis de tumoraciones locales. Se presenta el caso de un paciente al que se le diagnosticó una hernia discal lumbar mediante resonancia magnética nuclear y al que, en el acto quirúrgico, se le encontró una tumoración intraradicular que resultó, en el estudio anatomopatológico, una lesión amiloide.  En el trabajo se discuten  las características del caso, se hace una revisión de la literatura y se realza  la importancia  de la sospecha diagnóstica de esta enfermedad; en todo paciente con enfermedades subyacentes  potenciales de causar amiloidosis, así como ante la presencia  de proteinuria o de síndromes  auto inflamatorios, son de vital importancia, para el diagnóstico, los estudios anatomopatológicos

Wegener's granulomatosis. Case report

Se presenta un paciente que acudió a la Consulta de Otorrinolaringología con secreciones nasales abundantes y fétidas, obstrucción nasal, aumento de volumen de la nariz de aspecto tumoral y dolor de un año de evolución; una biopsia previa solo mostraba necrosis. Se le impuso tratamiento pero no mejoró. Presentó mayor obstrucción nasal y se realizó una nueva biopsia de mucosa nasal; se diagnosticó como una granulomatosis de Wegener. Lo interesante del caso radica en la dificultad para realizar el diagnóstico pues clínicamente simulaba un tumor y en las biopsias predominaba la necrosis, con solo escasas áreas de granulomas.It presents a patient who comes to Otorhinolaryngology Consultation with abundant nasal and secretions and fetids, nasal obstruction, increased volume of the nose with tumor appearance and pain of one year of evolution; a previous biopsy only showed necrosis. Treatment was imposed but it did not improve. Presented a greater nasal obstruction and a new nasal mucosa biopsy was performed; it was diagnosed as a Wegener's granulomatosis. The interesting thing about the case lies in the difficulty in making the diagnosis because clinically it simulated a tumor and in the biopsies the necrosis predominated, with only a few areas of granulomas

Correlación cito histológica de tumores en el sistema nervioso central

A total of 88 biopsies of the central nervous system performed in this hospital during 2010 were reviewed; 36 patients underwent intraoperative diagnosis by the method of imprinting crushing or crashing with the aim of establishing the value of cytology for diagnosis of these tumors. A total of 29 true positive and six true negative were obtained, with one false positive and zero false negatives. The sensitivity of cytology was 100%, the specificity was 86%, the positive predictive value was 100%, the negative predictive value was 86% and the efficiency and accuracy was 97%. The factors that influenced the mistakes were analyzed and it was concluded that this study is a useful and rapid method for the diagnosis of these tumors.Se revisaron un total de 88 biopsias del sistema nervioso central realizadas en el Hospital Provincial Universitario “Arnaldo Milián Castro” durante el año 2010; a 36 se les realizó el diagnóstico transoperatorio por el método de la impronta por aplastamiento o crashing con el objetivo de establecer el valor de la citología para el diagnóstico de estos tumores. Se obtuvieron un total de 29 verdaderos positivos y seis verdaderos negativos, con un falso positivo y cero falsos negativos. La sensibilidad del método citológico fue de 100%; la especificidad de 86%, el valor predictivo positivo fue de 100%, el valor predictivo negativo de 86% y la eficiencia y la precisión de 97%. Se analizan los factores que incidieron en los errores cometidos y se concluye que este estudio es un método útil y rápido para el diagnóstico de estos tumores

Adenocarcinoma de la próstata Gleason 6

This is a 69 year old patient with a medical history of ischemic heart disease, hypertension and type 2 diabetes mellitus who was admitted twice in the "Arnaldo Milián Castro" Surgical Hospital of the City of Santa Clara, Province Villa Clara, by decay and weight loss, abdominal tumors of four and 5cm respectively on the right flank and left hemiparesis with neurological symptoms, physical examination was found to further enlargement of the thyroid. He had a long evolution in living and he performed various add -abdominal and thyroid ultrasound, chest  X-ray and computed tomography of the skul, which showed an increase in nodular thyroid volume and a parahilum left pulmonary inflammatory process, not reached a definitive clinical diagnosis and died 55 days after admission.Se trata de un paciente de 69 años de edad con antecedentes personales patológicos de cardiopatía isquémica, hipertensión arterial y diabetes mellitus tipo 2 que fue ingresado en dos oportunidades en el Hospital Clínico Quirúrgico “Arnaldo Milián Castro” de la Ciudad de Santa Clara, Provincia de Villa Clara, por decaimiento y pérdida de peso, tumoraciones abdominales de cuatro y 5cm respectivamente en el flanco derecho y cuadro neurológico con hemiparesia izquierda; se constató al examen físico, además, aumento de volumen de la tiroides. Tuvo una evolución prolongada en sala y se le realizaron diversos complementarios -ultrasonido abdominal y de tiroides, rayos X de tórax y tomografía axial computadorizada de cráneo- que arrojaron un aumento de volumen nodular de la tiroides y un proceso inflamatorio pulmonar izquierdo parahiliar; no se llegó a un diagnóstico clínico definitivo y falleció 55 días después de su ingreso.

Tuberculosis miliar sistémica

It is a 53 years old female patient, white, with a personal history of bronchial asthma, high blood pressure, diabetes mellitus type 2, alcoholism, alcoholic polyneuropathy, alcoholic liver disease, tuberculosis contact, multiple admissions for dematological lesions and respiratory sepsis, pathological hip fracture and disseminated osteolytic lesions. She was admitted with diagnosis of deep venous thrombosis, she evolved unfavorably with sepsis at various levels and progressive deterioration and died due to failure and multiple organ damage. The anatomopathological findings showed a systemic miliary tuberculosis that caused multiorgan damage and failure. Mycobacterium tuberculosis is responsible for most of the cases of tuberculosis, several risk factors favor this disease, most of the patients with the human immunodeficiency virus suffer from it. Granuloma is the histological finding that distinguishes it.Se trata de una paciente femenina de 53 años, blanca, con antecedentes patológicos personales de asma bronquial, hipertensión arterial, diabetes mellitus tipo 2, alcoholismo, polineuropatía alcohólica, hepatopatía alcohólica, contacto de tuberculosis, múltiples ingresos por lesiones dematológicas y sepsis respiratorias, fractura patológica de cadera y lesiones osteolíticas diseminadas. Ingresó con diagnóstico de trombosis venosa profunda, evolucionó desfavorablemente con sepsis a varios niveles y deterioro progresivo y falleció por fallo y daño de múltiples órganos. Los hallazgos anatomopatológicos mostraron una tuberculosis miliar sistémica que provocó el daño y el fallo multiorgánicos. El Mycobacterium tuberculosis es responsable de la mayor parte de los casos de tuberculosis, varios factores de riesgo favorecen esa enfermedad, la mayor parte de los pacientes con el virus de inmunodeficiencia humana la padecen. El granuloma es el hallazgo histológico que la distingue

Lepra neural pura. Informe de caso

Introduction: Hansen's disease or leprosy is an infectious and contagious disease of chronic evolution caused by a bacillus, Mycobacterium leprae. Pure, or primary, neural leprosy presents as peripheral neuropathy without the presence of skin lesions.Patient information: a young man, 19 years old, was presented with a history of sensory alterations in both legs of approximately two months of evolution. Physical examination revealed hypoesthesia in patches in both lower limbs. Diagnostic confirmation was established by biopsy of the sural nerve. Antileprosy treatment was started and clinical improvement was achieved with few weeks of evolution.Conclusions: clinical diagnosis is difficult and the disease may go unnoticed for years, with neural damage with increasing disability, so an exhaustive clinical approach is required to achieve accurate diagnoses. Multidisciplinary management improves the prognosis and quality of life of patients with this disease.Introducción: la enfermedad de Hansen o lepra es una enfermedad infectocontagiosa de evolución crónica causada por un bacilo, el Mycobacterium leprae. La lepra neural pura, o primaria, se presenta como una neuropatía periférica sin presencia de lesiones cutáneas.Información del paciente: se presenta un hombre joven, de 19 años de edad, con historia de alteraciones sensitivas en ambas piernas de aproximadamente dos meses de evolución. Al examen físico se constató hipoestesia en parches en ambos miembros inferiores. Se estableció confirmación diagnóstica por biopsia del nervio sural. Se comenzó tratamiento antileproso y se logró mejoría clínica con pocas semanas de evolución.Conclusiones: el diagnóstico clínico es difícil y la enfermedad puede pasar desapercibida durante años, con daño neural cada vez con mayor discapacidad, por lo que se requiere de un enfoque clínico exhaustivo para lograr diagnósticos acertados. El manejo multidisciplinario mejora el pronóstico y la calidad de vida de los pacientes con esta enfermedad

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

BackgroundWe previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants of life-threatening COVID-19 remain to be identified in similar to 80% of cases.MethodsWe report here a genome-wide rare variant burden association analysis in 3269 unvaccinated patients with life-threatening COVID-19, and 1373 unvaccinated SARS-CoV-2-infected individuals without pneumonia. Among the 928 patients tested for autoantibodies against type I IFN, a quarter (234) were positive and were excluded.ResultsNo gene reached genome-wide significance. Under a recessive model, the most significant gene with at-risk variants was TLR7, with an OR of 27.68 (95%CI 1.5-528.7, P=1.1x10(-4)) for biochemically loss-of-function (bLOF) variants. We replicated the enrichment in rare predicted LOF (pLOF) variants at 13 influenza susceptibility loci involved in TLR3-dependent type I IFN immunity (OR=3.70[95%CI 1.3-8.2], P=2.1x10(-4)). This enrichment was further strengthened by (1) adding the recently reported TYK2 and TLR7 COVID-19 loci, particularly under a recessive model (OR=19.65[95%CI 2.1-2635.4], P=3.4x10(-3)), and (2) considering as pLOF branchpoint variants with potentially strong impacts on splicing among the 15 loci (OR=4.40[9%CI 2.3-8.4], P=7.7x10(-8)). Finally, the patients with pLOF/bLOF variants at these 15 loci were significantly younger (mean age [SD]=43.3 [20.3] years) than the other patients (56.0 [17.3] years; P=1.68x10(-5)).ConclusionsRare variants of TLR3- and TLR7-dependent type I IFN immunity genes can underlie life-threatening COVID-19, particularly with recessive inheritance, in patients under 60 years old