ABSTRACT
La arteriopatía autosómica dominante cerebral con infartos subcorticales y leucoencefalopatía es una enfermedad autosómica dominante de pequeños vasos causada por mutaciones del gen NOTCH3. Típicamente se presenta con migraña, eventos isquémicos cerebrales recurrentes y trastornos cognitivos. Las crisis epilépticas son inusuales como manifestación inicial, pero aún más infrecuente es su presentación como status epilepticus no convulsivo1. Se presenta una serie familiar de 3 casos con esta arteriopatía, entre los cuales 2 de ellos tuvieron status epilepticus como manifestación de la enfermedad. (AU)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease. (AU)
Subject(s)
Humans , Male , Female , Aged , Arterial Occlusive Diseases , Leukoencephalopathies , Cerebral Infarction , Epilepsy , CADASILABSTRACT
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease.
Subject(s)
CADASIL , Leukoencephalopathies , Status Epilepticus , Humans , CADASIL/complications , CADASIL/diagnosis , CADASIL/genetics , Cerebral Infarction , Magnetic Resonance Imaging , Receptor, Notch3/genetics , Status Epilepticus/etiologyABSTRACT
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease.
ABSTRACT
No disponible
Subject(s)
Humans , Male , Adult , Spinal Cord Diseases/diagnostic imaging , Sarcoidosis/diagnostic imaging , Magnetic Resonance ImagingABSTRACT
TITLE: Signo del tridente en la neurosarcoidosis medular.
Subject(s)
Central Nervous System Diseases/diagnostic imaging , Magnetic Resonance Imaging/methods , Sarcoidosis/diagnostic imaging , Spinal Cord/diagnostic imaging , Adrenal Cortex Hormones/therapeutic use , Adult , Anti-Inflammatory Agents/therapeutic use , Central Nervous System Diseases/drug therapy , Central Nervous System Diseases/pathology , Diagnosis, Differential , Giant Cells/ultrastructure , Granuloma/diagnostic imaging , Histiocytes/ultrastructure , Humans , Male , Neuromyelitis Optica/diagnosis , Sarcoidosis/drug therapy , Sarcoidosis/pathology , Spinal Cord/pathology , Spinal Cord Neoplasms/diagnosis , Tomography, X-Ray ComputedABSTRACT
OBJECTIVE: Test the ability of a brain and spinal cord MRI criteria to differentiate neuromyelitis optica spectrum disorders and MOG-disease from MS. MRI criteria was further tested in patients with CIS and pediatric MS. BACKGROUND: MOG-disease and neuromyelitis optica spectrum disorders can present clinical and radiological features strikingly similar to those of MS. Previously, diagnostic criteria based on brain MRI have been proposed to distinguish between these demyelinating diseases (Matthews-Jurynczik criteria), but spinal cord imaging and its relevance in CIS have not been evaluated. Simple brain and spinal cord MRI criteria may help separate these three inflammatory CNS diseases both in adults and children, aiding in early diagnostic decision-making, such as need for antibody testing. DESIGN/METHODS: We included 150 participants (23 with aquaporin-4-positive neuromyelitis optica spectrum disorder, 14 with MOG-disease, 20 with aquaporin-4-negative neuromyelitis optica spectrum disorder, 48 with adult-onset relapsing remitting MS, 24 with pediatric-onset MS and 21 with clinically isolated syndrome). Brain and spinal cord MRI scans were anonymised and scored by 2 separate raters, based on two sets of criteria: one previously described by Matthews and colleagues (including presence of at least one lesion adjacent to the body of lateral ventricle and in the inferior temporal lobe, or presence of subcortical U-fiber lesion or a Dawson's finger-type lesion), and an extended version including spinal cord features (non-longitudinally extensive cervical lesion). RESULTS: Extended MRI brain and spinal cord lesion criteria were able to separate adult-onset relapsing remitting MS with 100% sensitivity and 87% specificity from aquaporin-4-positive neuromyelitis optica spectrum disorder; and with 100% sensitivity and 79% specificity from MOG-disease. Additionally, brain and spinal cord criteria showed 100% sensitivity and specificity in patients presenting optic neuritis. Brain and spinal cord criteria were less sensitive in patients with CIS and in pediatric MS patients. CONCLUSIONS: Our data suggest radiological criteria can be useful to separate MS from MOG- and aquaporin-4-positive neuromyelitis optica spectrum disorders, in particular in patients with optic neuritis. Further work is needed to support their use in CIS.
Subject(s)
Aquaporin 4/immunology , Brain/diagnostic imaging , Multiple Sclerosis/diagnosis , Myelin-Oligodendrocyte Glycoprotein/immunology , Neuromyelitis Optica/diagnosis , Spinal Cord/diagnostic imaging , Adolescent , Adult , Aged , Autoantibodies/blood , Child , Child, Preschool , Female , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Young AdultSubject(s)
AIDS-Related Opportunistic Infections/complications , Bile Ducts/parasitology , Cryptosporidiosis/complications , Duodenum/parasitology , AIDS-Related Opportunistic Infections/immunology , AIDS-Related Opportunistic Infections/parasitology , Adult , Antibodies, Protozoan/immunology , Antigens, Protozoan/immunology , Bile Ducts/abnormalities , Cryptosporidium/classification , Cryptosporidium/immunology , Duodenum/abnormalities , Female , Humans , Male , Middle Aged , Young AdultABSTRACT
Cyclospora spp. is a protozoan parasite responsible for significant gastrointestinal disease in patients infected with the human immunodeficiency virus. We report the clinical features of two patients with chronic diarrhea and intestinal cyclosporosis caused by Cyclospora cayetanensis. The average value for CD4 count in these patients was lower than or equal to 100 cells/mm3. The oocysts were detected in smears from stool samples stained with modified acid-fast or safranin technique. Light microscopy revealed parasites in the enterocytes and these parasites were associated with villous atrophy. Cyclospora cayetanensis infection might be an important cause of diarrhea in patients with AIDS in Argentina.
Subject(s)
Humans , Animals , Male , Adult , Acquired Immunodeficiency Syndrome/parasitology , Cyclospora/isolation & purification , Cyclosporiasis/complications , Diarrhea/parasitology , Chronic Disease , Cyclosporiasis/diagnosis , Feces/parasitologyABSTRACT
Cyclospora spp. is a protozoan parasite responsible for significant gastrointestinal disease in patients infected with the human immunodeficiency virus. We report the clinical features of two patients with chronic diarrhea and intestinal cyclosporosis caused by Cyclospora cayetanensis. The average value for CD4 count in these patients was lower than or equal to 100 cells/mm3. The oocysts were detected in smears from stool samples stained with modified acid-fast or safranin technique. Light microscopy revealed parasites in the enterocytes and these parasites were associated with villous atrophy. Cyclospora cayetanensis infection might be an important cause of diarrhea in patients with AIDS in Argentina. (AU)
Subject(s)
Adult , Animals , Humans , Male , Cyclospora/isolation & purification , Diarrhea/parasitology , Acquired Immunodeficiency Syndrome/parasitology , Cyclosporiasis/complications , Cyclosporiasis/diagnosis , Feces/parasitology , CD4 Lymphocyte Count , Chronic DiseaseABSTRACT
Isospora belli, a coccidian parasite in humans, has been described as causing chronic diarrhea and acalculous cholecystitis in patients with the acquired immunodeficiency syndrome (AIDS). Diagnosis can be made at the tissue level in the epithelium of the small bowel and by fecal examination. Disseminated extraintestinal forms are uncommon. We studied 118 adult patients with AIDS and chronic diarrhea using stool analysis and endoscopy with duodenal biopsy specimen collection. These samples were processed by routine histology and transmission electron microscopy. Isosporosis was diagnosed in 8 cases. In 2 of them, unizoite tissue cysts were present in the lamina propria, with negative results in stool materials. The cysts were located within a large parasitophorous vacuole. There were no structural means of differentiating the species level of Isospora based on morphology using light or electron microscopy. We believe further work should be done to determine if unizoite tissue cysts are part of the cycle of I belli or of other species of Isospora that could be pathogenic in immunocompromised hosts.
Subject(s)
Acquired Immunodeficiency Syndrome/complications , Isospora/isolation & purification , Isosporiasis/diagnosis , Adult , Animals , Diarrhea , Duodenum/parasitology , Duodenum/pathology , Epithelium/parasitology , Feces/parasitology , Female , Humans , Intestinal Diseases, Parasitic/complications , Intestinal Diseases, Parasitic/diagnosis , Intestinal Diseases, Parasitic/pathology , Intestinal Mucosa/pathology , Isosporiasis/complications , Isosporiasis/pathology , Male , Microscopy, ElectronABSTRACT
We report a PCR-based assay for the detection of Enterocytozoon bieneusi. We extracted DNA from feces which had been applied to filter paper disks and evaluated four preserving solutions. Infected specimens were identified by electrophoresis of amplicons from concentrated formalin-fixed samples and unconcentrated fresh feces. Our findings demonstrate that this methodology is effective for sample collection, mailing, and diagnosis of this pathogen.
Subject(s)
DNA, Protozoan/analysis , Feces/parasitology , Microsporida/genetics , Microsporida/isolation & purification , Microsporidiosis/diagnosis , Polymerase Chain Reaction/methods , Animals , DNA, Protozoan/isolation & purification , Diarrhea/diagnosis , Diarrhea/parasitology , Electrophoresis, Agar Gel , Filtration , Fixatives , Formaldehyde , Humans , Microsporidiosis/immunology , PaperABSTRACT
Microsporidia are emerging as opportunistic pathogens in patients with acquired immunodeficiency syndrome (AIDS). Enterocytozoon bieneusi is the most commonly reported microsporidium that is detected in gastrointestinal specimens. This report describes an in situ hybridization technique with a 30-base specific synthetic DNA probe for detection of E bieneusi by light microscopy. Formalin-fixed paraffin-embedded duodenal biopsy specimens from three patients with AIDS, chronic diarrhea, and E bieneusi infection confirmed by electron microscopy were used in this study. Light microscopic examination after colorimetric detection allowed the identification of different stages of the pathogen's life cycle in the cytoplasm of enterocytes. No cross-reactivity was noted between the probe and human DNA. Our study underscores the applicability of a synthetic-labeled oligonucleotide for the detection and identification of E bieneusi in clinical samples.
Subject(s)
AIDS-Related Opportunistic Infections/diagnosis , DNA, Protozoan/analysis , Encephalitozoon/genetics , Encephalitozoonosis/diagnosis , In Situ Hybridization/methods , Intestinal Diseases, Parasitic/diagnosis , AIDS-Related Opportunistic Infections/parasitology , Animals , DNA Probes/chemistry , Duodenum/parasitology , Duodenum/pathology , Encephalitozoon/ultrastructure , Encephalitozoonosis/parasitology , HIV Enteropathy/diagnosis , Humans , Immunoenzyme Techniques , Intestinal Diseases, Parasitic/parasitology , Polymerase Chain ReactionABSTRACT
El protozoario Cryptosporidium sp. ha sido reconocido crecientemente en asociación con enteritis grave en paceintes con el síndrome de immunodeficiencia. Los individuos estudiados comprendieron 84 adultos com SIDA y diarrea crónica. En este trabajo se describen 14 pacientes con infección intestinal causada por Cryptosporidium sp. La media del recuerdo de CD4 en estos pacientes fue (300 células/mm3 (en 7 de los 14). El examen de aspirados duodenales y heces incluyó preparaciones de muestras concentradas coloreadas con Kinjoun, Dimetilsulfóxido y Auramina. Se realizaron videoesofagogastroduodenoscopías (VEDA) para inspeccionar visualmente la mucosa y obtener biopsias. La VEDA reveló duodeno granular en 10 pacientes y jaspeado en uno de ellos. Las biopsias duodenales fueron coloreadas con hematoxilina-eosina, Giemsa y Azur II. Los acambios histológicos incluyeron atrofia (3/14), duodenitis (2/14) a ambos (3/14). La microscopía eletrónica de transmisión fue usada para la identificación de estadíos de desarrollo de Cryptosporidium sp.
Subject(s)
Adult , Animals , Female , Humans , AIDS-Related Opportunistic Infections/parasitology , Cryptosporidiosis/diagnosis , Cryptosporidium/ultrastructure , Cryptosporidiosis/physiopathology , Cryptosporidium/isolation & purification , Microscopy, ElectronABSTRACT
El protozoario Cryptosporidium sp. ha sido reconocido crecientemente en asociación con enteritis grave en paceintes con el síndrome de immunodeficiencia. Los individuos estudiados comprendieron 84 adultos com SIDA y diarrea crónica. En este trabajo se describen 14 pacientes con infección intestinal causada por Cryptosporidium sp. La media del recuerdo de CD4 en estos pacientes fue (300 células/mm3 (en 7 de los 14). El examen de aspirados duodenales y heces incluyó preparaciones de muestras concentradas coloreadas con Kinjoun, Dimetilsulfóxido y Auramina. Se realizaron videoesofagogastroduodenoscopías (VEDA) para inspeccionar visualmente la mucosa y obtener biopsias. La VEDA reveló duodeno granular en 10 pacientes y jaspeado en uno de ellos. Las biopsias duodenales fueron coloreadas con hematoxilina-eosina, Giemsa y Azur II. Los acambios histológicos incluyeron atrofia (3/14), duodenitis (2/14) a ambos (3/14). La microscopía eletrónica de transmisión fue usada para la identificación de estadíos de desarrollo de Cryptosporidium sp. (AU)
Subject(s)
Adult , Animals , Female , Humans , Cryptosporidiosis/diagnosis , AIDS-Related Opportunistic Infections/parasitology , Cryptosporidium/ultrastructure , Cryptosporidium/isolation & purification , Cryptosporidiosis/physiopathology , Microscopy, ElectronABSTRACT
Cryptosporidium sp., a protozoa organism, has been increasingly recognized in association with severe enteritis in patients with the Acquired Immunodeficiency Syndrome. The studied subjects included 84 adult patients with AIDS and chronic diarrhea. We describe 14 patients with intestinal infection caused by Cryptosporidium sp. The mean CD4 count in these patients was < or = 300 cells/mm3 (7 out of 14). Examination of duodenal aspirates and feces included dimethylsulfoxide, auramine and acid-fast preparation of concentrated samples. We carried out videoesophagogastroduodenoscopy (VEDA) to visually inspect the mucosa and obtain biopsy specimens. VEDA revealed granular duodenum in ten patients and jasper duodenum in one of them. Duodenal biopsy specimens were stained with hematoxylin-eosin, Giemsa and Azure II. Histologic changes included atrophy (3/14), duodenitis (2/14) or both (3/14). Transmission electron microscopy was used for the identification of developmental stages of Cryptosporidium sp.
Subject(s)
AIDS-Related Opportunistic Infections/diagnosis , Cryptosporidiosis/diagnosis , Cryptosporidium/isolation & purification , Diarrhea/parasitology , AIDS-Related Opportunistic Infections/parasitology , Adult , Animals , Chronic Disease , Cryptosporidium/ultrastructure , Female , Humans , MaleABSTRACT
Microsporidia are protozoan parasites responsible for significant gastrointestinal disease in patients infected with the human immunodeficiency virus. We report the clinical features of three patients with chronic diarrhea and intestinal microsporidiosis caused by Enterocytozoon bieneusi. The average value for CD4 in these patients was < or = 50 cells/mm3. The spores were detected in smears from stool samples and duodenal aspirates stained with trichrome blue in all patients. Light microscopy of semi-thin plastic sections revealed parasites and spores in the enterocytes and were associated with villous atrophy (2 out of 3). Thin section-electron microscopy showed a variety of developmental stages of the microsporidio. Patients treated with Albendazole had an unsatisfactory clinical response to therapy. Enterocytozoon bieneusi infection may be an important cause of diarrhea in patients with AIDS in our country.
Subject(s)
AIDS-Related Opportunistic Infections/parasitology , Diarrhea/parasitology , Microsporidia/ultrastructure , Microsporidiosis/parasitology , AIDS-Related Opportunistic Infections/diagnosis , Adult , Animals , Chronic Disease , Diarrhea/diagnosis , Female , Humans , Male , Microscopy, Electron , Microscopy, Fluorescence , Microsporidiosis/diagnosisABSTRACT
Microsporidia are protozoan parasites responsible for significant gastrointestinal disease in patients infected with the human inmunodeficiency virus. We reporte the clinical features of three patients with chronic diarrhea and intestinal microsporidiosis caused by Enterocytozoon bieneusi. The average value for CD4 in these patients was ó 50 cells/mm3. The spores were detected in smears from stool samples and duodenal aspirates stained with trichrome blue in all patiens. Light microscopy of semithin plastic sections revealed parasites and spores in the enterocytes and were associated with villous atrophy (2 out of 3). Thin section-electron microscopy showed a variety of developmental stages of the microsporidio. Patients treated with Albendazole had an unsatisfactory clinical response to therapy. Enterocytozzon bieneusi infection may be an important cause of diarrhea in patiens with AIDS in our country.
Subject(s)
Humans , Animals , Male , Female , Adult , AIDS-Related Opportunistic Infections/parasitology , Diarrhea/parasitology , Microsporidia/ultrastructure , Microsporidiosis/parasitology , AIDS-Related Opportunistic Infections/diagnosis , Chronic Disease , Diarrhea/diagnosis , Microscopy, Electron , Microscopy, Fluorescence , Microsporidiosis/diagnosisABSTRACT
Microsporidia are protozoan parasites responsible for significant gastrointestinal disease in patients infected with the human inmunodeficiency virus. We reporte the clinical features of three patients with chronic diarrhea and intestinal microsporidiosis caused by Enterocytozoon bieneusi. The average value for CD4 in these patients was ó 50 cells/mm3. The spores were detected in smears from stool samples and duodenal aspirates stained with trichrome blue in all patiens. Light microscopy of semithin plastic sections revealed parasites and spores in the enterocytes and were associated with villous atrophy (2 out of 3). Thin section-electron microscopy showed a variety of developmental stages of the microsporidio. Patients treated with Albendazole had an unsatisfactory clinical response to therapy. Enterocytozzon bieneusi infection may be an important cause of diarrhea in patiens with AIDS in our country. (AU)
Subject(s)
Humans , Animals , Male , Female , Adult , AIDS-Related Opportunistic Infections/parasitology , Diarrhea/parasitology , Microsporidiosis/parasitology , Microsporidia/ultrastructure , AIDS-Related Opportunistic Infections/diagnosis , Diarrhea/diagnosis , Microsporidiosis/diagnosis , Microscopy, Electron , Microscopy, Fluorescence , Chronic DiseaseABSTRACT
Microsporidia are protozoa parasites responsible for significant gastrointestinal disease in patients infected with human immunodeficiency virus. We evaluated a PCR assay of stool samples, duodenal aspirates, and biopsy specimens from patients with Enterocytozoon bieneusi infection. A 210-bp DNA fragment of the unique rRNA intergenic spacer could be amplified from all samples infected with E. bieneusi, but no amplification was seen by using DNA purified from samples with Septata intestinalis or other parasites and from negative control human cells. These results suggest that the PCR in stool samples may be a useful tool for the diagnosis of intestinal microsporidiosis in patients with AIDS.
