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At least 631 records · Page 35Linked to original sources
PubMed1999

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.

Sialuria, a disorder of sialic acid (NeuAc) metabolism characterized by increased free NeuAc in the cytoplasm of cells, is due to failure of CMP-Neu5Ac to feedback inhibit UDP-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase. We now describe the fifth patient in the world with sialuria, a 7-year-old Portuguese girl with developmental delay, hepatomegaly, coarse facies, and urinary excretion of 19 micromol of free NeuAc/mg creatinine. The patient's fibroblasts stored excess free NeuAc in the cytosolic fraction, and fibroblast UDP-GlcNAc 2-epimerase activity was only 26% inhibited by 100 microM CMP-Neu5Ac (normal, 79%). The patient's UDP-GlcNAc 2-epimerase gene displayed an R266Q mutation in only one allele, consistent with known sialuria mutations and with the proposed dominant nature of this disorder. Extensive description of sialuria patients will help to define the clinical and biochemical spectrum of this disease.

Abnormalities, Multiple↗
PubMed1990

The ordinary-extraordinary distinction reconsidered: a moral context for the proper calculus of benefits and burdens.

The traditional distinction between ordinary, i.e., obligatory means to preserve life and extraordinary, non-obligatory means is an especially useful tool for HECs in today's secular pluralist health care system, because it gives factors that can override the prima facie good of preserving the patient's life. I first indicate the need for such a tool. I then demonstrate the present misunderstanding of the distinction and give its proper understanding. Finally, I show the applicability of the distinction for HEC deliberations about three important types of cases: the conscious, irreversibly but not terminally ill patient who requests cessation of curative treatment; the provision of artificial nutrition and hydration to permanently vegetative patients; and the allotment of intensive care and other scarce medical resources.

Algorithms↗
PubMed1986

Electrophysiological findings in a family with congenital arteriohepatic dysplasia (Alagille syndrome).

Arteriohepatic dysplasia (Alagille syndrome) is a congenital cholestatic disease associated with ocular abnormalities. Three Japanese siblings, a 14-year-old girl, an 11-year-old boy, and a 9-year-old girl with this syndrome were studied. All three patients showed neonatal jaundice, hepatic dysfunction, characteristic facies, and psychomental retardation. The two sisters had cardiac murmurs. Ophthalmological examinations revealed that they had posterior embryotoxon, refractive error, retinochorodial degeneration, and electrophysiological abnormalities. The two sisters showed retinochoroidal degeneration and unilateral high myopia while the brother showed marked retinochoroidal degeneration with extensive pigment clumps. Visual fields showed moderate concentric contraction in the two sisters and marked concentric contraction in the brother. Amplitudes of the single flash electroretinogram were moderately reduced in the sisters, the test was nonrecordable in one eye and extensively reduced in the other eye of the brother. The electrooculogram was borderline in the elder sister and abnormal in the brother and younger sister. Visual evoked cortical potential (VECP) were abnormal in the high myopic eye in each of the two sisters. Ophthalmological findings including electrophysiological examinations may help to confirm the diagnosis of this multisystem familial disorder.

Adolescent↗
PubMed1984

[Hangman's fracture in ventrally flexed traction].

Hangman's fracture in ventrally flexed traction between 10(6) and 75 degrees is analyzed on the basis of 220 fracture trials on plaster of real bone preparations of the atlas and axis of two adults. Hangman's fractures, which are usually regarded as a form of injury from dorsal flexion, occurred in 25% of the fracture trials under this kind of strain. Frequency depended on flexion angle, as well as on inclination of the dens axis. Thus Hangman's fractures occurred, as a whole, more frequently in the kyphotic dens type than in the lordotic type and were found as a rule at 75 degrees flexion. Furthermore, the investigations showed that pedicles can by no means be regarded as the sole predilection site for fracture. A detailed description is provided on why the Hangman's fracture type, due to ventrally flexed traction, can be included in the group of bone injuries arising from flexion, with tensile stress of the dorsal parts of the dens and the corpus axis, on the one hand, and the upper side of the axis arch on the other. Hence, the injury picture ranges from the dorsal arch fracture to the horizontal rupture through the superior articular facies and the corpus axis, as documented by substantial evidence.

Adult↗
PubMed1981

Trisomy 18q. A case report and review of karyotype-phenotype correlations.

A 2-month-old male infant with partial trisomy 18, 46,XY,der(4),t(q35;q21.1)mat, was presented. Except for atypical facies, he had many of the significant signs of full trisomy 18. Phenotype-karyotype correlations based on the data of our case and those from the literature were discussed. Major features of trisomy 18, such as congenital heart disease, early death, and external malformations, appear to be consistently related to the trisomic state of 18q21. Characteristic congenital heart diseases in trisomy 18 were polyvalvular disease in 100%, membranous ventricular septal defect, patent ductus arteriosus, and high take-off of the right coronary ostium. Pathology of the heart did not differ between full and partial 18-trisomy cases.

Abnormalities, Multiple↗
PubMed1987

Familial retinoblastoma (mother and son) with 13q14 deletion.

We present here the first familial cases (a mother and son) of dominantly inherited retinoblastoma with a 13q14 deletion [46,XY or XX, del(13)(q14.1q21.2)]. Their esterase D activities in red blood cells were as low as 50% of the normal control and the haplotype of esterase D was a type 1-0 in the mother and a type 2-0 in the son. They had peculiar facies characterized by a high forehead, low and broad nasal root, a short and bulbous nose, a long philtrum, and open mouth with a thin upper lip, and prominent earlobes. Chromosome and esterase D analysis should be performed in patients with retinoblastoma even if retinoblastoma seems to be transmitted through an autosomal dominant inheritance. This family indicates that one of the causes of dominantly inherited retinoblastoma is a chromosome deletion of part of the 13q14 band whether it is detectable by chromosome analysis or not.

Adult↗
PubMed1984

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

The Miller-Dieker Syndrome (MDS) consists of lissencephaly, characteristic facies, pre- and postnatal growth retardation, plus various other birth defects. Autosomal recessive inheritance has been presumed based on four reported families with two or more affected siblings. We present substantial evidence that monosomy 17p13.3 causes the MDS phenotype. This includes two patients with ring chromosome 17, one patient with a de novo 17p13 deletion, and one patient with monosomy 17p due to an unbalanced 7p; 17p translocation. We report the first prenatal diagnosis of MDS in a 20-week fetus from this latter family. Additionally, we report a balanced translocation between chromosome 17 and different autosomes (8, 12, and 15) in three of the four familial cases of lissencephaly. The finding of a chromosomal basis for this presumed autosomal recessive disorder significantly alters genetic counseling and makes prenatal diagnosis possible in some families.

Abnormalities, Multiple↗
PubMed1983

Confirmation of a de novo duplication, dup(10)(q24 leads to q26), by GOT1 gene dosage studies.

A girl with mental retardation and the facies associated with the distal 10q duplication syndrome was found to have a tandem duplication of 10q24 to 10q26. This was confirmed by gene dosage studies of glutamic oxaloacetic transaminase 1. The clinical features of this patient are compared with those of other reported cases of the distal 10q duplication syndrome with duplication-deficiency karyotypes due to familial reciprocal translocations or inversions or with tandem duplication of a more proximal region of 10q. Reports of tandem duplications in man and possible mechanisms of origin are discussed.

Aspartate Aminotransferases↗
PubMed1988

Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies.

Twelve cases of lissencephaly are reported. A high resolution chromosome study was performed on each in order to detect small chromosomal anomalies, undetectable with routine techniques. Only one case was shown to have an unbalanced karyotype with a microdeletion of the short arm of chromosome 17 (del 17p). This child also had symptoms of the Miller-Dieker syndrome, consisting of lissencephaly, characteristic facies, pre- and post-natal growth retardation and other birth defects. As proposed by Dobyns, it seems justifiable to classify lissencephalies into four different groups, according to other clinical manifestations and results of chromosome studies.

Cerebral Cortex↗
PubMed1984

A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?

Thirteen male newborns of a family spanning five generations revealed a syndrome consisting in elevated birth weight and length, a disproportionately large head with coarse, distinctive facies, short neck, slight obesity, and broad, short hands and feet. The affected who reached adulthood attained heights of about 2 m; their unusual facial and general appearance and the clumsiness of all their motions, remarkable during infancy and childhood, had become somewhat less conspicuous. In all but one affected individual, intellectual development was normal. In two index cases neither clinical nor laboratory evaluations revealed a basic defect. X-linked recessive inheritance is most probable.

Abnormalities, Multiple↗
PubMed1985

A distinct dysmorphic syndrome with spinocerebellar ataxia and probable autosomal recessive inheritance.

Two brothers and their sister aged 8, 13, and 7 years were found to have unusual facies (gross, rough and abundant hair, wide forehead, mild palpebral ptosis, small nose, anteverted nostrils, thick lips, and down-slanting corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, feet deformities, and limb and gait ataxia. The characteristic clinical picture in the three sibs, once compared with other ataxic syndromes, allowed one to conclude that this could correspond to a distinct entity probably inherited as an autosomal recessive disorder.

Abnormalities, Multiple↗
PubMed1989

Familial transmission of 16p trisomy in an infant.

Based on four reported cases including the present case, 16p trisomic infants have remarkably similar features. These are severe developmental delay, psychomotor retardation, typical facies, and anomalies of extremities.

Chromosome Banding↗
PubMed1982

Distal 19q duplication.

Two brothers with a distal 19q duplication due to a maternal balanced reciprocal translocation were observed. Clinical features included intrauterine and postnatal growth retardation, microcephaly, and mental retardation with seizures. Dysmorphic facies consisted of coarse hair with a high frontal hairline, short philtrum and nose, flat nasal root, and a broad mouth with downturned commissures. Both routine G-banded and high-resolution prometaphase chromosome studies were employed in evaluation of the family. The dysmorphic features and karyotypes of the affected brothers are compared with those of the two previously reported families with 19q duplication, and a common distal-19q phenotype is suggested.

Adult↗
PubMed1977

[The stress of the human hip joint. VII. The distribution of cartilage thickness in the acetabulum and its functional explanation (author's transl)].

The cartilage thickness of the human acetabulum was examined in 10 objects (material from the dissecting room). Cartilage specimens were taken at identical points of the joint and measured by microscope. The greatest thickness is situated in the outer joint edge, with a maximum in the frontal part of the joint roof; the lowest thickness is found at the inner margin of the facies lunata. These results indicate a higher stressing of the outer joint margin. This could be caused by an eccentric position of the hip joint's resultant force, which is shifted towards the edge. Another possible explanation of these results relates to a swelling of the joint cartilage under functional stress. Such a swelling, which has already been proved, would lead to an incongruence of the ball and socket joint, and so to a stronger stressing of the outer joint edge.

Acetabulum↗
PubMed1979

Monosomy 10qter.

An 11-year-old girl with 10q26qter deletion is described and compared with another patient reported in the literature. The most characteristic features of monosomy 10qter seem to be: severe mental retardation; growth retardation; microcephaly; and facial dysmorphism with a long and triangular facies, a broad and prominent nasal bridge, a poorly developed tip of the nose, a short philtrum, and flattened angles of the mandible. Several of these features are opposed in type and countertype to features of trisomy 10qter.

Child↗
PubMed1991

Tourmaline mineralization in the Barberton greenstone belt, South Africa: early Archean metasomatism by evaporite-derived boron.

Tourmaline-rich rocks are common in the low-grade, interior portions of the Barberton greenstone belt of South Africa, where shallow-marine sediments and underlying altered basaltic and komatiitic lavas contain up to 50% tourmaline. The presence of tourmaline-bearing rip-up clasts, intraformational tourmaline pebbles and tourmaline-coated grains indicate that boron mineralization was a low-temperature, surficial process. The association of these lithologies with stromatolites, evaporites, and shallow-water sedimentary structures and the virtual absence of tourmaline in correlative deep-water facies rocks in the greenstone belt strengthens this model. Five tourmaline-bearing lithologic groups (basalts, komatiites, evaporite-bearing sediments, stromatolitic sediments, and quartz veins) are distinguished based on field, petrographic, and geochemical criteria. Individual tourmaline crystals within these lithologies show internal chemical and textural variations that reflect continued growth through intervals of change in bulk-rock and fluid composition accompanying one or more metasomatic events. Large single-crystal variations exist in Fe/Mg, Al/Fe, and alkali-site vacancies. A wide range in tourmaline composition exists in rocks altered from similar protoliths, but tourmalines in sediments and lavas have similar compositional variations. Boron-isotope analyses of the tourmalines suggest that the boron enrichment in these rocks has a major marine evaporitic component. Sediments with gypsum pseudomorphs and lavas altered at low temperatures by shallow-level brines have the highest delta 11B values (+2.2 to -1.9%); lower delta 11B values of late quartz veins (-3.7 to -5.7%) reflect intermediate temperature, hydrothermal remobilization of evaporitic boron. The delta 11B values of tourmaline-rich stromatolitic sediments (-9.8 and -10.5%) are consistent with two-stage boron enrichment, in which earlier marine evaporitic boron was hydrothermally remobilized and vented in shallow-marine or subaerial sites, mineralizing algal stromatolites. The stromatolite-forming algae preferentially may have lived near the sites of hydrothermal discharge in Archean times.

Boron↗
PubMed1982

Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function.

A 21-year-old female dizygotic twin was referred for cytogenetic evaluation because of mild mental retardation. Significant history, clinical, and physical findings included irregular menses, mildly coarse facies, and microcornea. Chromosome analysis revealed a pericentric inversion of the X chromosome, 46, X, inv (X)(p11;q22). Her twin who is phenotypically normal was also found to carry the same inversion. The twins differ significantly in X chromosome inactivation and menstrual cycle function.

Adult↗
PubMed1977

The 11q -- syndrome.

An eighth case of terminal deletion of the long arm of chromosome eleven (11q--) is reported to emphasize both the distinctive facies, but otherwise non-specific nature of this disorder, and the female preponderance of affected patients. Growth and mental retardation, congenital heart disease and telecanthus are the other most constant features. The authors' experience with 3 unrelated cases in less than 2 years suggests that this syndrome is underdiagnosed.

Chromosome Aberrations↗