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At least 955 records · Page 53Linked to original sources
PubMed1988

Partial 6p trisomy associated with infantile autism.

Partial trisomy 6p with duplications ranging from 6p21 to 6p25-pter is emerging as an established syndrome. We report a case of duplication of 6p (6p23-pter) and deletion of 2q37-qter. Features characteristic of 6p partial trisomy present in the patient are low birthweight, and mental and developmental retardation. Major facial features include prominent forehead, flat occiput, multiple ocular abnormalities, low-set ears, prominent nasal bridge, long philtrum and small pointed mouth. Repeated examinations of the patient from birth to the age of over 5 years revealed that he has infantile autism. Since autistic children are generally not associated with chromosome anomalies, in view of the present case, it is suggested that karyotypic analysis be considered for such children. Where possible, extended study for autism in 6p trisomic children may also be desirable.

Abnormalities, Multiple↗
PubMed1990

Phenotypic variability in Meckel-Gruber syndrome.

Five Bedouin sibs are described with Meckel-Gruber syndrome (MGS), an autosomal recessive disorder with multiple abnormalities. Each affected sib manifested only two of the three cardinal signs of MGS: occipital encephalocele and polycystic kidneys, lacking polydactyly. The phenotypic variability of the MGS pleiotropic gene is briefly discussed.

Chromosome Aberrations↗
PubMed1996

A dicephalic goat with other defects.

A case of dicephalus was reported in a black-coat female goat kid which survived for 18 h. The head was joined at the level with the axis. The trunk was single and the kid stood on four legs. The goat had duplication of the oesophagus, the heart, the lungs, the spleen and the liver. The associated defects were in the form of polycystic kidneys, unilateral atlanto-occipital fusion and pervious urachus.

Abnormalities, Multiple↗
PubMed1995

Tropical pyomyositis.

A 22-year-old male presented with symptoms of diffuse muscle pain and multiple abnormal laboratory findings that were eventually attributed to tropical myositis. Computed tomography scan was more reliable than ultrasound and served as a guide to needle aspiration and pathologic diagnosis.

Adult↗
PubMed1986

Renal cell carcinoma originating from dysplastic kidney.

A case of renal cell carcinoma developing from a unilateral dysplastic kidney is presented. The patient was a 33-year-old woman who had lumbago one year and a half prior to death. Multiple abnormal uptakes of 67Ga were seen by scintigraphy. Bone marrow biopsy indicated adenocarcinoma but the primary site was unknown despite extensive examination. At autopsy the carcinoma was wide-spread but no obvious primary-appearing lesion was detected in all the organs except the left kidney. Incidentally the patient had unilateral (left) renal dysplasia. An elaborate study revealed the primary site of the carcinoma within the cystic structure of the dysplastic kidney. This tumor showed reactivity with Dolichos biflorus agglutinin associated antigen (DBA-Ag), soybean agglutinin (SBA), and peanut agglutinin (PNA) which have reactivity with renal tubules.

Adult↗
PubMed1992

Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly: a new syndrome?

Aplasia cutis congenita (ACC) is a skin disorder in which localized or widespread areas of skin are absent at birth. It has been associated with numerous anomalies and recognizable syndromes. We report a newborn infant with ACC of the scalp, multiple facial abnormalities including cleft palate but not cleft lip, hypoplasia of the distal phalanges of the hands, ectrodactyly of the feet, and epidermolysis bullosa of the extremities and lower trunk. Although this patient had some features that overlapped with ectrodactyly-ectodermal dysplasia-clefting syndrome, the absence of cleft lip and presence of additional skin abnormalities made that diagnosis unlikely. This could represent a newly recognized syndrome of numerous malformations in which ACC is associated with a constellation of previously undescribed structural anomalies.

Abnormalities, Multiple↗
PubMedDate not supplied

Outcomes of cellophane banding for congenital portosystemic shunts in 106 dogs and 5 cats.

OBJECTIVE: To report outcomes after cellophane banding of single congenital portosystemic shunts in dogs and cats. STUDY DESIGN: Retrospective study of sequential cases. ANIMALS: One hundred and six dogs and five cats. METHODS: Medical records were reviewed for breed, sex, age at surgery, shunt anatomy, results of pre- and postoperative biochemical analysis, development of postligation neurologic dysfunction, portal hypertension or other serious complications, and the owners' perception of their animal's response to surgery. RESULTS: Ninety-five dogs and all 5 cats had extrahepatic shunts. Eleven dogs had intrahepatic shunts. Six dogs (5.5%) died as a result of surgery from portal hypertension (2 dogs), postligation neurologic dysfunction (2), splenic hemorrhage (1) and suspected narcotic overdose (1). Serious complications were more common in dogs with intrahepatic shunts than those with extrahepatic shunts (P=.002). Postligation neurologic dysfunction necessitated treatment in 10 dogs and 1 cat; 8 dogs and the cat survived. Clinical signs attributed to portosystemic shunting resolved or were substantially attenuated in all survivors. Postoperative serum bile acid concentrations or results of ammonia tolerance testing were available for 88 animals; 74 (84%) were normal and 14 (16%) were abnormal. Multiple acquired shunts were documented in two animals. CONCLUSIONS: Cellophane banding is a safe and effective alternative to other methods of attenuation. CLINICAL RELEVANCE: Slow occlusion of portosystemic shunts using a variety of methods is being evaluated world wide. Cellophane banding is a relatively simple procedure with comparable safety and efficacy to previously reported techniques.

Animals↗
PubMedDate not supplied

Polyamine metabolism and cancer.

Polyamines are aliphatic cations present in all cells. In normal cells, polyamine levels are intricately controlled by biosynthetic and catabolic enzymes. The biosynthetic enzymes are ornithine decarboxylase, S-adenosylmethionine decarboxylase, spermidine synthase, and spermine synthase. The catabolic enzymes include spermidine/spermine acetyltransferase, flavin containing polyamine oxidase, copper containing diamine oxidase, and possibly other amine oxidases. Multiple abnormalities in the control of polyamine metabolism and uptake might be responsible for increased levels of polyamines in cancer cells as compared to that of normal cells. This review is designed to look at the current research in polyamine biosynthesis, catabolism, and transport pathways, enumerate the functions of polyamines, and assess the potential for using polyamine metabolism or function as targets for cancer therapy.

Acetyltransferases↗
PubMed1975

Embryonic duplications in sheep.

Twenty-seven embryonic duplications were examined during a 3-year investigation into the causes of perinatal lamb mortality. Twenty of the 27 were anomalous twins with 19 being conjoined (diplopagus 9 and heteropagus 10). The various duplications were: haloacardius acephalus 1, diprosopus 2, dicephalus 2, dipypus 3, diprosopus dipygus 1, syncephalus dipygus 1, pygopagus parasiticus 1, heteropagus dipygus 3, melodidymus 6, polyury 4, penile duplication 2, and bilateral otognathia 1. Four lambs were living and the time of death of the others was: parturient 8, and post-parturient 15. Average dry weight of the lambs was 3.35 kg (range 1.59 to 5.45 kg). Breed distribution was: Merino 77.8%, Crossbred 14.8%, Dorset Horn 3.7%, and Corriedale 3.7%. The caudal region was involved in 10 of the conjoined twins (52.6%), anterior region in 7 (36.9%), and both anterior and caudal regions in 2 (10.5%). Associated defects were present in 70.4% of the 27 lambs, the most common being atresia ani.

Abnormalities, Multiple↗
PubMed1980

Correlation of visual evoked potentials, ophthalmological and neurological findings after unilateral optic neuritis.

Forty-two patients were tested with pattern reversal visual evoked potentials (VEPs) 1--8 years after an episode of acute unilateral optic neuritis. The stimulation was produced by dot as well as checker-board pattern. An unexpectedly large proportion (12 cases) showed normal VEP latencies from the affected eye. In these patients the initial visual acuity was on the average significantly better than in cases with prolonged VEP latencies. They also had significantly fewer remaining ocular signs than the patients with abnormal VEPs. On the other hand, no correlation was found between the VEP findings and the incidence of CSF abnormalities, multiple sclerosis and HLA types. In 14 patients of which 13 belonged to the group above, repeated VEP tests were performed from the acute onset of the disease and up to 2 years afterwards confirming that a considerable normalization of VEP latencies occurs.

Adult↗
PubMed1988

Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.

Insulin receptor complementary DNA has been cloned from an insulin-resistant patient with leprechaunism whose receptors exhibited multiple abnormalities in insulin binding. The patient is a compound heterozygote, having inherited two different mutant alleles of the insulin receptor gene. One allele contains a missense mutation encoding the substitution of glutamic acid for lysine at position 460 in the alpha subunit of the receptor. The second allele has a nonsense mutation causing premature chain termination after amino acid 671 in the alpha subunit, thereby deleting both the transmembrane and tyrosine kinase domains of the receptor. Interestingly, the father is heterozygous for this nonsense mutation and exhibits a moderate degree of insulin resistance. This raises the possibility that mutations in the insulin receptor gene may account for the insulin resistance in some patients with non-insulin-dependent diabetes mellitus.

Alleles↗
PubMed2005

Assessment by flow cytometry of cytokine production in malnourished children.

Malnutrition in children is associated with an increased risk of infection and death. Multiple abnormalities in the immune response, including cytokine production, in protein energy-malnourished children have been described and could account for the increased severity and frequency of infections. In this study, we used flow cytometry to investigate the effects of malnutrition on the production of cytokines (interleukin-2 [IL-2], gamma interferon [IFN-gamma], IL-4, and IL-10) in CD4+ and CD8+ cells and the activation capability (as indicated by CD69+ and CD25+ cells). CD4+ and CD8+ cells from malnourished children showed increased production of IL-4 and IL-10 cytokines and decreased production of IL-2 and IFN-gamma cytokines compared to that in cells from well-nourished, uninfected and well-nourished, infected children. In addition, malnourished children showed impaired activation capability, since the fluorescence intensity of CD69+ and CD25+ cells was lower than that in cells from well-nourished, uninfected and well-nourished, infected children. These results indicate that malnutrition alters the capacity of CD4+ and CD8+ cells to produce IL-2, IFN-gamma, IL-4, and IL-10 in response to stimulus. We concluded that both cytokine production and activation capacity were impaired in malnourished children. This functional impairment may be involved in the failure to develop a specific immune response and the predisposition to infection in these children.

Antigens, CD↗
PubMed2005

A Rho-type GTPase, rho-4, is required for septation in Neurospora crassa.

Proteins in the Rho family are small monomeric GTPases primarily involved in polarization, control of cell division, and reorganization of cytoskeletal elements. Phylogenetic analysis of predicted fungal Rho proteins suggests that a new Rho-type GTPase family, whose founding member is Rho4 from the archiascomycete Schizosaccharomyces pombe, is involved in septation. S. pombe rho4Delta mutants have multiple, abnormal septa. In contrast to S. pombe rho4Delta mutants, we show that strains containing rho-4 loss-of-function mutations in the filamentous fungus Neurospora crassa lead to a loss of septation. Epitope-tagged RHO-4 localized to septa and to the plasma membrane. In other fungi, the steps required for septation include formin, septin, and actin localization followed by cell wall synthesis and the completion of septation. rho-4 mutants were unable to form actin rings, showing that RHO-4 is required for actin ring formation. Characterization of strains containing activated alleles of rho-4 showed that RHO-4-GTP is likely to initiate new septum formation in N. crassa.

Actins↗
PubMed1998

Congenital central hypoventilation syndrome and Hirschsprung's disease.

Five cases of the Hirschsprung's disease-congenital central hypoventilation syndrome (CCHS) association are presented and 41 other published cases reviewed. These children have a distinct pattern of associated features, an equal sex incidence, and a characteristic spectrum of disease severity which suggests that the condition is genetically distinct from other cases of Hirschsprung's disease. While approximately 1.5% of Hirschsprung's disease patients, and 10% of those with total colonic aganglionosis, will have CCHS, up to 50% of CCHS patients will have Hirschsprung's disease. Approximately 20% of CCHS/Hirschsprung patients will also have neuroblastoma or ganglioneuroma, usually multiple. Abnormalities of the eye and autonomic nervous system are also common. The ventilatory abnormality is usually evident on the first day of life. The aganglionosis is also severe, with more than half (59%) of the patients having aganglionosis extending into the small bowel.

Deglutition Disorders↗