RESUMO
A 14-year-old white girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of Morquio syndrome. Clinical and roentgenographic findings were minimal compared to those of typical patients with the Morquio syndrome, MPS IV. Beta-Galactosidase activity in extracts of the patient's cultured fibroblasts was deficient, while that of galactosamine-6-sulfate sulfatase was normal. Conjunctival biopsy revealed intracytoplasmic vacuoles typical of lysosomal storage diseases. It is postulated that in this patient the deficiency of a beta-galactosidase is responsible for inadequate degradation of keratan sulfate and the appearance of a mild form of the Morquio syndrome (MPS IVB).
Assuntos
Variação Genética , Intolerância à Lactose , Mucopolissacaridose IV/genética , Sulfatases/metabolismo , Adolescente , Feminino , Galactosamina/metabolismo , Humanos , Mucopolissacaridose IV/diagnóstico por imagem , Mucopolissacaridose IV/enzimologia , Radiografia , Pele/enzimologiaRESUMO
Three patients with typical features of mannosidosis and deficiency of alpha-mannosidase activity, who were examined ophthalmologically, had similar lenticular opacities. Corneal opacities were absent. Chamber angle and striking ophthalmoscopic anomalies occurred in two young patients who had normal electroretinograms. Two patients had strabismus. Conjunctival biopsy specimens morphologically confirmed the lysosomal nature of this disorder.
Assuntos
Erros Inatos do Metabolismo dos Carboidratos/complicações , Manifestações Oculares , Manose/metabolismo , Catarata/complicações , Pré-Escolar , Túnica Conjuntiva/patologia , Feminino , Humanos , Masculino , Manosidases/deficiênciaRESUMO
PURPOSE: We investigate automating the task of segmenting structures in head and neck CT scans, to minimize time spent manually contouring. We focus on the brainstem and left and right parotids. METHODS: To generate contours for an unlabeled image, we assume an atlas of labeled images. We register each of these images to the unlabeled target image, transform their structures, and then use a weighted voting method for label fusion. Our registration method starts with multi-resolution translational alignment, then applies a relatively higher resolution affine alignment. We then employ a diffeomorphic demons registration to deform each atlas to the space of the targetimage. Our weighted voting method acts one structure at a time to determine for each voxel whether or not it exists in a structure. The weight for a voxel's vote from each atlas depends on the intensity difference of the target and the transformed atlas at that voxel, in addition to the distance of that voxel from the boundary of the structure. RESULTS: We applied our method to sixteen labeled images, generating automatic segmentations foreach using the other fifteen images as the atlas. We compared the resulting Dice and Hausdorff metrics with a majority voting method using the same registrations and saw remarkable improvement. Mean Dice scores were around .7, with maximum Hausdorff of about 15mm, and mean Hausdorffs around 2 or 3mm. CONCLUSIONS: Our method produces contours with boundaries usually only a few millimeters away from the manual contour, which could save physicians considerable time, because they only have to make small modifications to each slice instead of contouring from scratch.
RESUMO
A family is described with hypoplasia of the anterior iris stroma, no angle anomalies, and no glaucoma. The pedigree is suggestive of an autosomal dominant mode of inheritance. This is compared to the main peripheral malformations of the anterior chamber cleavage syndrome and other disease entities with similar iris changes. The pedigree represents a point on the continuum of mesoectodermal dysgenesis or anterior chamber cleavage syndrome.
Assuntos
Câmara Anterior/embriologia , Iris/anormalidades , Adulto , Criança , Pré-Escolar , Anormalidades Congênitas/genética , Ectoderma , Feminino , Humanos , Iris/embriologia , Iris/patologia , Masculino , Mesoderma , Linhagem , SíndromeRESUMO
Recent modifications in the technic of bone marrow preparation for karyotypic analysis permit confirmation of chromosomal aneuploidy such as trisomy 13, 18, or 21 within two to four hours. The patient reported illustrates how the technic of bone marrow karyotyping may assist the pediatrician in treating an acutely ill newborn, in accurately counseling parents, and in selecting with them an appropriate course of management.
Assuntos
Cromossomos Humanos 16-18 , Cariotipagem , Crânio/anormalidades , Trissomia , Anormalidades Múltiplas , Adulto , Aneuploidia , Medula Óssea , Feminino , Humanos , Recém-Nascido , Unidades de Terapia Intensiva , Mosaicismo , SíndromeRESUMO
We have presented 2 affected sibs-a male and female-with unaffected parents and sib from a small remote northern Mexican village. The syndrome includes mental deficit, brittle hair with decreased cuticular layer and an apparently collapsed cortex. The patients' hair contains decreased sulfur content and increased concentrations of trace elements as determined by x-ray fluorescent spectroscopy. Studies are underway to evaluate other apparently similarly affected children from the village where our family originated.
Assuntos
Cabelo/anormalidades , Deficiência Intelectual/complicações , Estatura , Pré-Escolar , Feminino , Cabelo/análise , Cabelo/ultraestrutura , Humanos , Lactente , Masculino , México , Linhagem , SíndromeRESUMO
We have defined a new autosomal recessive disorder in patients stemming from a small community in northern Mexico. Diagnosable at birth, its major symptoms include brittle hair, mental retardation, and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. Hair cystine content is reduced while the copper/zinc ratio in hair is increased.