ABSTRACT
We studied a Cuban family with presenile dementia (autosomal dominant) consisting of 281 members within six generations, the proband descended from a Spanish founder. Mean age at onset was 59 years of age. Memory impairment was the main symptom in all patients, additionally, ischemic episodes were described in 4 (n = 18) patients. Neuropathological examination of brain material (1 patient) revealed neuronal loss, amyloid plaques, and neurofibrillary tangles. Thirty DNA samples were genotyped (regions on chromosome 1, 3, 10, 12, 14, 17, 19, 20, and 21). A maximum Lod score of 3.79 at theta = 0 was obtained for marker D14S43, located in a 9-cM interval in which all patients shared the same haplotype. Sequencing of the PSEN1 gene revealed a heterozygous base substitution, C520A (exon 6), which is predicted to cause an amino acid change from leucine to methionine in the TMIII of the presenilin 1 protein. The mutation was found to co-segregate with the disease phenotype and the associated disease haplotype. The C --> A change was not observed in 80 control chromosomes from the Cuban population. Leucine at position 174 is highly conserved among species and is identical in presenilin 1 and presenilin 2 proteins. We propose the L174 M mutation might lead to an abnormal N-terminal and probably C-terminal fragments and malfunction of the protein complex. In conclusion, we found a novel PSEN1 mutation in a large family with clinical and pathological diagnosis of early onset familial Alzheimer disease, which may be relevant for other Hispanic populations.
Subject(s)
Alzheimer Disease/genetics , Membrane Proteins/genetics , Point Mutation , Age of Onset , Alzheimer Disease/pathology , Amino Acid Sequence , Apolipoproteins E/genetics , Conserved Sequence , Cuba , Family Health , Female , Genetic Markers , Genotype , Hispanic or Latino/genetics , Humans , Male , Molecular Sequence Data , Pedigree , Presenilin-1Subject(s)
Brain Neoplasms/pathology , Gliosarcoma/pathology , Aged , Female , Humans , Male , Middle AgedABSTRACT
No disponible
Subject(s)
Middle Aged , Child , Aged , Male , Female , Humans , Rett Syndrome , Gliosarcoma , Psychiatric Status Rating Scales , Diagnosis, Differential , Severity of Illness Index , Brain NeoplasmsABSTRACT
OBJECTIVES: To describe a 41-year-old, white, male patient with a previous history of rectal pain. He was diagnosed as having a prostatic tumor and was treated with antiandrogens and irradiation, which temporarily achieved temporary symptomatic relief. When the symptoms reappeared, the patient consulted at our hospital. A multinodular tumor was detected in the rectum. Transrectal ultrasound-guided biopsy disclosed adenoid cystic carcinoma of the prostate or adjacent structures. METHODS/RESULTS: The characteristics of the lesion prompted tumor excision alone. Since the integrity of the rectal and prostatic urethra could not be preserved, a recto-urethral fistula was done, which was subsequently closed via the transrectal approach. The clinical characteristics of the tumor and the surgical procedure performed required treatment with an antitumoral immunomodulator (recombinant a-interferon) for one year. CONCLUSIONS: One and a half years postoperatively, no signs of tumor recurrence or distant metastasis have been observed. To our knowledge, this is the seventh case reported in the world literature and the first in the Spanish literature.
Subject(s)
Carcinoma, Adenoid Cystic , Prostatic Neoplasms , Adult , Carcinoma, Adenoid Cystic/diagnosis , Carcinoma, Adenoid Cystic/surgery , Humans , Male , Prostatic Neoplasms/diagnosis , Prostatic Neoplasms/surgeryABSTRACT
A twenty-four-year-old woman presented with asthenia, anorexia and weight los associated with headache, neck ache, lumbo-sacral pain, flaccid quadriparous, bilaterally diminished vision and sphincter disorders. On computerized axial tomography of the skull, only slight signs of ventricular dilatation were seen. Cytochemical study of the cerebro-spinal fluid showed a marked increase in protein and there was a raised erythrocyte sedimentation rate. The patient was treated with steroids in view of the possibility of vasculitis or a demyelinating disorder. However the disease worsened and she died four months after onset of the disorder. Neuro-pathological study showed tumour infiltration of the leptomeninges of the base of both cerebral hemispheres, cerebellum and spinal medulla. The optic nerves, chiasma and spinal nerve roots were also infiltrated with neoplastic cells. No intraparenchymatous tumour was found. The neuropathological findings were compatible with primary diffuse leptomeningeal gliomatosis.
Subject(s)
Glioma , Meningeal Neoplasms , Adult , Fatal Outcome , Female , Glioma/diagnosis , Humans , Meningeal Neoplasms/diagnosisABSTRACT
Se presenta el caso de un niño de 12 años portador de un nesidioblastoma no funcionante -primer caso infantil de nuestra literatura médica- el cual constituyó un hallazgo quirúrgico al sangrar después de un traumatismo abdominal. Se exponen los caracteres anatomopatológicos fundamentales de los islotes de Langerhans a la luz de los conocimientos actuales, y se señala lo difícil del diagnóstico histopatológico de estos tumores, incluyendo la predicción biológica evolutiva. Se hace un recuento de las hipótesis más aceptadas sobre el origen de estos tumores: el de la "cascada endocrina" y el de las células APUD(AU)
Subject(s)
Islets of Langerhans , PancreasABSTRACT
Se presentan los resultados de la biopsia por congelación en el diagnóstico de 300 nódulos solitarios de la glándula tiroides; el 91,3 porciento de éstos correspondieron al sexo femenino y cuyo porcentaje de malignidad fue de 16,3 porciento. La biopsia por congelación permitió diagnosticar la naturaleza histológica en el 90,3 porciento de los nódulos operados, y su utilidad se demuestra por haberse precisado la malignidad en el 51 porciento de los adenocarcinomas, con un 0,8 porciento de falsos positivos. Los errores diagnósticos están relacionados principalmente con las limitaciones inherentes a la técnica empleada y con las características de estas lesiones, aunque los falsos negativos pudieran disminuirse, mejorando el diagnóstico de los adenocarcinomas papilares; y los falsos positivos pueden evitarse, si el patólogo sólo afirma la malignidad cuando ella es indudable (AU)
Subject(s)
Biopsy , Goiter, Nodular , Adenocarcinoma, PapillaryABSTRACT
Se revisa la bibliografía referente a la biopsia por congelación de la glándula tiroides. Se presentan los resultados obtenidos con este procedimiento en el diagnóstico de los nódulos solitarios de esta glándula en el Hospital Escuela "General Calixto García" y, colateralmente, la incidencia de malignidad y los tipos histológicos encontrados en los 150 casos estudiados. Se demuestra la utilidad de este procedimiento de diagnóstico y se analizan las causas de error del mismo (AU)
