RESUMEN
BACKGROUND: Colonoscopy is a useful as a cancer screening test. However, in countries with limited medical resources, there are restrictions on the widespread use of endoscopy. Non-invasive screening methods to determine whether a patient requires a colonoscopy are thus desired. Here, we investigated whether artificial intelligence (AI) can predict colorectal neoplasia. METHODS: We used data from physical exams and blood analyses to determine the incidence of colorectal polyp. However, these features exhibit highly overlapping classes. The use of a kernel density estimator (KDE)-based transformation improved the separability of both classes. RESULTS: Along with an adequate polyp size threshold, the optimal machine learning (ML) models' performance provided 0.37 and 0.39 Matthews correlation coefficient (MCC) for the datasets of men and women, respectively. The models exhibit a higher discrimination than fecal occult blood test with 0.047 and 0.074 MCC for men and women, respectively. CONCLUSION: The ML model can be chosen according to the desired polyp size discrimination threshold, may suggest further colorectal screening, and possible adenoma size. The KDE feature transformation could serve to score each biomarker and background factors (health lifestyles) to suggest measures to be taken against colorectal adenoma growth. All the information that the AI model provides can lower the workload for healthcare providers and be implemented in health care systems with scarce resources. Furthermore, risk stratification may help us to optimize the efficiency of resources for screening colonoscopy.
Asunto(s)
Adenoma , Pólipos del Colon , Neoplasias Colorrectales , Masculino , Humanos , Femenino , Inteligencia Artificial , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/prevención & control , Colonoscopía , Tamizaje Masivo/métodosRESUMEN
IMPORTANCE: The regulatory factors explaining the wide spectrum of clinical phenotypes for mitochondrial 3243A>G mutation are not known. Crosstalk between nuclear genes and mitochondrial DNA might be one factor. OBSERVATIONS: In this case series, we compared 2 pairs of male twins with the mitochondrial 3243 A>G mutation and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome with a female control patient. One pair of monozygotic twins presented with diabetes and deafness in their 30s, stroke-like episodes in their 40s, and cardiac events and death in their 50s. Another pair of twins presented with deafness and stroke-like episodes in their 20s. The degree of heteroplasmy of 3243A>G mutation in the various tissues and organs was similar in the first pair of twins compared with the control patient. CONCLUSIONS AND RELEVANCE: The clinical phenotype and segregation of mitochondrial 3243A>G mutation was similar in monozygotic twins. The onset age and distribution of the symptoms might be regulated by nuclear genes. Our findings might help to predict the clinical course of the surviving twins and afford an opportunity for therapy before the onset of mitochondrial disease, especially for monozygotic twins caused by nuclear transfer with a small amount of nuclear-donor mitochondrial DNA.
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ADN Mitocondrial/genética , Síndrome MELAS/genética , Enfermedades Mitocondriales/genética , Mutación/genética , Gemelos Monocigóticos/genética , Adulto , Anciano , Humanos , Masculino , Persona de Mediana Edad , FenotipoRESUMEN
OBJECTIVE: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is an adult-onset white matter disease that presents clinically with cognitive, mental and motor dysfunction. Several autopsy reports have indicated that the corpus callosum (CC), the largest bundle of white matter, is severely affected in patients with HDLS. The aim of this study was to evaluate corpus callosum atrophy (CCA) quantitatively in HDLS patients. METHODS: We assessed CCA in six genetically-proven HDLS patients (HDLS group), in comparison with that observed in 20 patients with vascular dementia (VaD group) and 24 age-matched patients without organic central nervous system (CNS) disease (non-CNS group). Using midsagittal MR images, five measurements of the CC were obtained: the width of the rostrum (aa'), body (bb') and splenium (cc'), the anterior to posterior length (ab) and the maximum height (cd). Next, the corpus callosum index (CCI) was calculated as (aa' + bb' + cc')/ab. RESULTS: All HDLS patients had white matter lesions in the CC and frontoparietal lobes on the initial MRI scans. Compared with that observed in the VaD and age-matched non-CNS groups, the CCI was significantly decreased in the HDLS group (with VaD group, p<0.01; with non-CNS group, p<0.01). CONCLUSION: This study showed significant atrophy of the CC in all HDLS patients on the initial MRI scans obtained 6-36 months after onset. We propose that the early appearance of CCA, frequently accompanied by high-intensity in the genu and/or splenium, on T2 images is an important diagnostic clue to HDLS.
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Cuerpo Calloso/patología , Imagen por Resonancia Magnética , Adulto , Anciano , Atrofia/patología , Femenino , Humanos , Leucoencefalopatías/diagnóstico , Leucoencefalopatías/epidemiología , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Fibras Nerviosas Mielínicas/patología , Estudios RetrospectivosRESUMEN
We report a patient with systemic lupus erythematosus (SLE) who developed fulminant pulmonary hemorrhage. This patient also showed liver dysfunction, bicytopenia and hyperferritinemia, with an increase in serum levels of interleukin (IL)-1 beta, IL-6 and tumor necrosis factor-alpha (TNF-alpha) at the onset of pulmonary symptoms, probably indicating an associated hemophagocytic syndrome. Despite an acute progressive course temporarily requiring mechanical ventilation the patient was successfully treated with continuous drip infusion of tacrolimus, plasmapheresis and intravenous high-dose immunoglobulin and corticosteroid. In this patient increased inflammatory cytokines ascribable to activation of macrophages and/or helper T cells were considered to play an important role in the pathogenesis of the pulmonary hemorrhage. Because this complication is frequently fatal in SLE, intensive therapy, including immunosuppressants and plasmapheresis, should be actively considered as early as possible after onset.
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Hemorragia/inmunología , Hemorragia/terapia , Enfermedades Pulmonares/inmunología , Enfermedades Pulmonares/terapia , Lupus Eritematoso Sistémico/complicaciones , Corticoesteroides/uso terapéutico , Adulto , Femenino , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Inmunosupresores/uso terapéutico , Lupus Eritematoso Sistémico/inmunología , Lupus Eritematoso Sistémico/terapia , Plasmaféresis , Tacrolimus/uso terapéutico , Resultado del TratamientoRESUMEN
We report the clinical and autopsy findings of a 71-year-old Japanese woman with rheumatoid meningitis. This patient developed subacute meningitis during an inactive stage of rheumatoid arthritis (RA), and despite intensive examinations no causative agents or underlying disease could be identified except for RA. Based on persistent hypocomplementaemia and increased serum levels of immune complexes she was suspected of having vasculitis, and was treated with intravenous methylprednisolone (1000 mg/day for 3 days) followed by oral prednisolone. Soon after beginning treatment with corticosteroid her symptoms improved, in parallel with a decrease in cell counts and interleukin-6 in the cerebrospinal fluid. During tapering of oral prednisolone she died of a subarachnoid haemorrhage which was ascribed to a relapse of the meningitis. Autopsy demonstrated infiltration of mononuclear cells, including plasma cells, in the leptomeninges, mainly around small vessels, leading to a definite diagnosis of rheumatoid meningitis. When RA patients manifest intractable meningitis with a subacute course, this disease is important as a possible diagnosis even if the arthritis is inactive, and intensive treatment, including corticosteroid and immunosuppressants, should be positively considered as a therapeutic option as soon as possible because of the poor prognosis.
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Artritis Reumatoide/complicaciones , Artritis Reumatoide/diagnóstico , Meningitis/complicaciones , Meningitis/patología , Anciano , Artritis Reumatoide/tratamiento farmacológico , Autopsia , Biopsia con Aguja , Quimioterapia Combinada , Resultado Fatal , Femenino , Humanos , Inmunohistoquímica , Imagen por Resonancia Magnética/métodos , Meningitis/tratamiento farmacológico , Índice de Severidad de la EnfermedadRESUMEN
We reported 2 patients with pseudogout manifested by severe posterior neck pain. Patient 1 was a 78-year-old woman. She had experienced attacks of posterior neck pain several times for 4 years. On July 3, 2001, she developed severe pain in the posterior neck and left acromioclavicular joint, and was admitted to our hospital. On examination, her body temperature was 38.1 degrees C, ESR 140 mm/hr and CRP 14.7 mg/dl. Linear calcifications in meniscus of the right knee and left acromioclavicular joint were observed in roentgenograms. The CT of the cervical spines revealed multiple nodular calcifications in the ligamenta flava at the level of C3-C7. She was treated with NSAIDs, and her symptoms and inflammatory reactions rapidly subsided. Patient 2 was was a 76-year-old man. His clinical courses and laboratory findings were very similar to those of patient 1. Both patients presented here were older than 70, and shared such common clinical findings as back neck pain, fever, elevations of serum ESR and CRP level, and effiveness of NSAIDs. We could not detect any findings that could explain the neck pain and fever in cervical spinal roentgenograms and MRIs. Cerebrospinal fluid examinations showed no abnormalities. We diagnosed them as having cervical arthritis caused by calcium pyrophosphate dihydrate deposition (pseudogout) based on the cervical CT examinations, which showed multiple nodular calcifications in the ligamenta flava. Calcium pyrophosphate dihydrate deposition on cervical spine is very rare, and only 50 patients with this condition have been reported to date. In the literatures, the mean age of patients with cervical spine pseudogout is old (72.3 years old) and 84% of them are females. The ligamenta flava at the level of C3-C6 and transverse ligament of the atlas are most commonly involved. Pseudogout of the cervical spine should be considered as a differential diagnosis when we examine the elderly patients with back neck pain. Cervical spinal CT is the most sensitive and useful examination to diagnose this disease.