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At least 1,261 records · Page 70Linked to original sources
PubMed1988

Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type 1a.

A girl with type 1a pseudohypoparathyroidism (PHP) presented several hormonal abnormalities. Although she had eluded neonatal thyroid screening, she was diagnosed as having hypothyroidism at the age of 5 months. Thereafter, a diagnosis of PHP was made on the basis of skeletal features of Albright osteodystrophy and lack of both cyclic adenosine monophosphate (c-AMP) and phosphaturic responses after parathyroid hormone (PTH) infusion. The basal levels of luteinizing hormone (LH) and follicle stimulating hormone (FSH) were higher than normal and showed exaggerated responses to luteinizing hormone-releasing hormone (LH-RH). There was no growth hormone (GH) response to arginine infusion, and the prolactin (PRL) response after thyrotropin-releasing hormone (TRH) infusion, was also impaired. The stimulating guanine nucleotide-binding protein (Ns) activity of the erythrocytes was reduced to 66.9%. The skeletal age was not delayed at the age of 5 months in spite of the hypothyroid state, and it advanced following thyroxine and vitamin D treatments.

Age Determination by Skeleton↗
PubMed1993

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.

In a 4.5-month-old boy presenting with marked muscular hypotonia in the neonatal period, hepatomegaly, cardiac hypertrophy, recurrent hypoglycemia, metabolic acidosis, and secondary carnitine deficiency, there was a considerable urinary excretion of 3-methylglutaconic and 3-methylglutaric acid. Estimation of 3-methylglutaconyl-CoA hydratase, 3-hydroxy-3-methylglutaryl-CoA lyase and initial enzymatic steps of cholesterol biosynthesis in cultured fibroblasts and in different tissues postmortem revealed no enzyme deficiency. Analyses of the respiratory chain in postmortem tissues demonstrated severe impairment of complex I (NADH ubiquinone oxidoreductase) and complex IV (cytochrome c oxidase) activities in skeletal muscle and reduced complex IV activity in heart.

Acidosis, Lactic↗
PubMed2003

Spinal lipoma associated with terminal syringohydromyelia and a spinal arachnoid cyst in a patient with cloacal exstrophy.

CASE REPORT: A 2-year-old girl presented with repaired cloacal exstrophy and a subcutaneous mass at the midline of the lumbosacral region. Neurological examination revealed mild paraparesis with bilateral lower-extremity hyperreflexia and sensory disturbance below the level of L4. A CT scan showed asymmetrical spina bifida on the right side extending from L2 to L5, and symmetrical spina bifida below S1. Magnetic resonance imaging showed a low-set conus with terminal syringohydromyelia, lumbosacral lipoma, and the extradural arachnoid cysts at Th12-L4 compressing the spinal dural sac from behind. Surgical removal of the arachnoid cyst and lipoma relieved spinal dural sac compression and the tethered spinal cord. The patient showed an improvement in the lower-extremity hyperreflexia postoperatively. CONCLUSION: The rare association of the cloacal exstrophy with the multiple spinal cord abnormalities as shown in the present case indicates that detailed routine screening of the spinal cord is necessary for the careful planning of treatment in patients with anorectal anomalies.

Abnormalities, Multiple↗
PubMed1991

Multiple clonal chromosome abnormalities in Peyronie's disease.

Numerical and structural chromosome aberrations were found in cell plaque metaphases from 9 of 14 patients with Peyronie's disease. In two cases there was evidence of clonal evolution for some of the chromosomal aberrations observed. The Y chromosome was the most frequently involved in numerical changes. Four of 9 cases with abnormal karyotype showed more than one abnormal, cytogenetically unrelated clone. Our findings suggest the possibility of a multiclonal origin for this benign tumor, and confirm the presence of chromosome instability in this cell growth disorder.

Adult↗
PubMed1991

Multiple sequential molecular abnormalities in the evolution of human gliomas.

We have examined a series of 13 benign and 27 malignant human gliomas for evidence of molecular abnormalities of proto-oncogene and putative tumour suppressor gene loci. The results indicated that specific molecular lesions were associated with increasing grades of malignancy. Thus, loss of genetic material on chromosome 17 was present with approximately equal frequency in both benign and malignant gliomas, whereas loss of loci on chromosome 10 was seen only in malignant gliomas. Only the most malignant tumours, known as glioblastoma multiforme, had more than one molecular abnormality in the same tumour. These findings may contribute to our understanding of glial tumour development, as well as improve the accuracy of tumour diagnosis.

Chromosome Deletion↗
PubMed2001

Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature.

Fraser syndrome (cryptophthalmos-syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyperechogenic lungs contrasted by oligohydramnios, non-visualization of the kidneys and microphthalmia were sonographic markers leading to the prenatal detection of this rare autosomal recessive disorder in earlier reports. We report a case of Fraser syndrome diagnosed at 16 weeks' gestational age in a woman whose previous pregnancy was terminated because of multiple fetal malformations. Abnormal sonographic findings included bilateral agenesis of the kidneys, dilated trachea and main bronchi (suggestive of high airway obstruction), hyperechogenic lungs, syndactyly of the fingers, hepatomegaly, oligohydramnios and hydrops placentae. Face and cerebral structures appeared normal. These findings together with those of the previously affected child led to the diagnosis of Fraser syndrome. The parents elected to terminate the pregnancy. Autopsy results were confirmatory. In conclusion, prenatal diagnosis of Fraser syndrome is possible in the hands of an expert, but due to the great variety of possible malformations the diagnosis will remain doubtful in most cases in which no previous child is affected.

Abnormalities, Multiple↗
PubMed1982

Extensive multiple innervation and abnormal synaptogenesis in muscular dysgenesis (mdg/mdg) in the mouse embryo.

Muscular dysgenesis (mdg) is an autosomal recessive mutation in the mouse characterized by total muscle inactivity in vivo or in vitro. The muscle fiber in the mdg/mdg diaphragm was not only morphologically abnormal but also multiply innervated; the motor innervation was very dense, showing overgrowth and sprouting. As expected at the ultrastructural level, nerve-muscle contacts were composed of dense appositions of numerous axon terminals (dense focal polyinnervation). Moreover, these mdg/mdg neuromuscular junctions, lacking post-synaptic unfolding, were immature compared to the control ones. This retarded neuromuscular junction differentiation in muscular dysgenesis may be related to considerable delay in muscle maturation and/or abnormal muscular differentiation, or to a nerve defect independent of, or causally related to, the muscular defect.

Animals↗
PubMed2002

Normal and abnormal growth of multiples.

Growth curves of twins and triplets do not support a growth restriction patterns seen in singletons. At the same time that individual members of a twin or a triplet set may be smaller than singletons of the same gestational age, only a minority are indeed SGA by singleton standards. When comparing the entire 'fetal mass' of a multiple pregnancy to that of singletons, multiple gestations are in fact growth promoted, and their individual smaller size are better described as growth adaptation. Data from large twin and triplet series suggest that significant birth weight discordance result from the inability of the uterine milieu to equally nurture twins. In order to promote maturity - gestational age - mild compensation in the form of size discordance begins after mid-gestation. When the uterine environment competently nurtures multiples, total birth weight increases and discordance decreases. Failed adaptation, however, may result in significant growth discordance and restriction.

Adaptation, Physiological↗
PubMed1988

In vitro splicing of adenovirus E1A transcripts: characterization of novel reactions and of multiple branch points abnormally far from the 3' splice site.

During the analysis of the in vitro alternative splicing of the natural E1A transcript of adenovirus, other minor reactions were detected (Schmitt et al., 1987, Cell 50, 31-39). We report here their characterization. The first reaction concerns the excision of a 216 nucleotide intron delineated by the 9S 5' splice site and a 3' splice site 216 nucleotides downstream. It can occur on the premRNA transcript and the 13S and 12S mRNA species. Strikingly, the reaction uses one of 3 branch points located 51, 55 or 59 residues upstream of the 3' splice site, a distance which is unusually long since all the branch points mapped up to now are located between 18-37 nucleotides of the 3' splice site. The dramatic accumulation of the corresponding lariat intermediates, likely related to this long spacing indicates that the second splicing step is relatively unefficient. The second kind of reaction analysed is a cryptic splicing which uses a 3' splice site generated by the junction of the 13S mRNA exons, and leads to the formation of psi 12S and psi 9S mRNAs. In vitro, this reaction occurs only from a 13S mRNA transcript, and not from the 13S mRNA newly formed in the splicing assay, consistent with what has been observed in vivo. Thus, both the well known alternative and the minor reactions occurring in vivo from E1A premRNA and mRNAs are detected in vitro, implying that most of the alternative splicing machinery is reconstituted in the in vitro system.

Adenovirus Early Proteins↗
PubMed1994

Blood-brain barrier abnormalities in longstanding multiple sclerosis lesions. An immunohistochemical study.

Thirty-five randomly selected plaques from five patients with longstanding multiple sclerosis were examined immunohistochemically for evidence of extravascular serum proteins. One lesion showed histological evidence of active demyelination and 34 were inactive. In the one active lesion and in 26 of the 34 inactive lesions, serum proteins were detected outside blood vessels in a distribution consistent with leakage during life. The findings suggest that the blood-brain barrier (BBB) is permanently damaged in many old plaques, although to a degree not often detectable by current gadolinium-diethylenetriamine pentaacetic acid (Gd-DTPA)-enhanced magnetic resonance imaging (MRI). The findings also suggest that in patients with multiple sclerosis, a breached BBB is not by itself sufficient to induce active demyelination. Continuous exposure of demyelinated axons and glia to cytokines, antibody or other factors present in the circulation might be important, however, in preventing oligodendrocyte regeneration and new myelin formation in longstanding lesions.

Adult↗
PubMed2006

A newborn with Beals syndrome.

We present the case of a newborn with multiple connective tissue abnormalities. Careful examination of the infant and a detailed history from his mother indicated that they were both affected by Beals syndrome (congenital contractural arachnodactyly). A viable-term male infant was delivered to a healthy 30-year-old. The parents had no known history of familial birth defects. After delivery, it was noted that the infant could not extend either elbow past 90 degrees. Further examination revealed a crumpled helix of the ear, ulnar deviation of the fingers, campylodactyly, and hyperextensible ankles. Further questioning revealed that the mother also had hyperflexible wrists and ankles, and several dislocations of both patellae in childhood. She never received a diagnosis or treatment for her condition. A careful examination of newborn deformities and extensive history-taking from the parents can reveal previously unknown genetic traits. Thus, initiating early screening and intervention can positively impact a child's future.

Abnormalities, Multiple↗