PubMed Health⌕ Search

Biomedical subjects

M Patton

Publications and source records attributed to M Patton.

At least 19 recordsLinked to original sources
PubMed2000

Outcomes of trauma patients who survive prolonged lengths of stay in the intensive care unit.

OBJECTIVE: To examine a subgroup of severely injured patients spending > or = 3 weeks in the intensive care unit (ICU) and to determine their disposition and eventual functional outcome. METHODS: A retrospective review of our trauma registry and medical records over a 7-year period (January of 1991 to December of 1997) identified 115 patients with ICU length of stay (LOS) > or = 3 weeks. Variables selected included age, length of stay, injury severity score, injuries, disposition, and charges. Functional independence measures (FIM) were obtained in patients requiring inpatient rehabilitation and a written questionnaire (Rand 36-item Health Survey) was mailed to all patients alive at discharge. RESULTS: Mean ICU length of stay of the 115 patients was 36 days (range, 21-106 days); mean age, 49 years (range, 4-89 years); 73 patients (63%) were males, 42 patients (37%) were females. Overall mortality was 22% (n = 25). The remaining 90 patients survived to discharge with the following disposition: rehabilitation facility 60% (n = 54), home with temporary disability 22% (n = 20), nursing home 8% (n = 7), home with permanent disability 4% (n = 4), transferred 6% (n = 5). Mean hospital charge was $193,000 (range, $77,000-$528,000). No variable or combination could predict outcome except age. Elderly patients (age > or = 75, n = 24) had an overall mortality of 42% (n = 10). Eight of 14 survivors fulfilled admission criteria and entered our rehabilitation facility. The remaining six elderly patients either went to nursing homes or were permanently disabled. Complete FIM scores were available on 47 of 54 patients who went to rehabilitation facility. The mean rehabilitation facility admission FIM score was 52, indicating either complete dependence or the need for moderate assistance. After they had remained at the rehabilitation facility for a mean of 48 days (range, 7-278 days), patients' FIM scores improved to a mean of 86, signifying minimal contact assistance or supervision only. Three-month follow-up FIM scores continued to improve to a mean of 101, a score denoting complete independence. Elderly patients within the rehabilitation facility fared as well as the younger group. For the Rand-36 survey, 47 of 90 patients or family members were contacted. Twelve patients died since discharge, leaving 35 patients to complete the survey. Despite excellent FIM scores, overall mean health was only fair to good, with limitations to activity and lack of energy cited as the main problems. CONCLUSION: Despite tremendous resource utilization, the majority of trauma patients with prolonged ICU stays can eventually return to varying degrees of functional daily living and independence, but not to preinjury levels. A subgroup of severely injured elderly patients had a significantly higher mortality rate. However, elderly survivors that entered our rehabilitation facility fared as well as the younger patients.

Adolescent↗
PubMed1999

Comparative baseline levels of mercury, Hsp 70 and Hsp 60 in subsistence fish from the Yukon-Kuskokwim delta region of Alaska.

In subsistence fish; northern pike (Esox lucius), burbot (Lota lota), whitefish (Coregonus nelsoni), grayling (Thymallus arcticus) and sheefish (Stenodus lencichthys), we determined the Hsp 60 and Hsp 70 levels in 31 samples from adult fish gills. A dot-blot analysis using antibodies to either Hsp 70 or Hsp 60 showed the average Hsp 70 concentration was 9.1 microg/mg protein, while the average Hsp 60 concentration was 147.4 microg/mg protein. Mercury levels in muscle tissue in these fish averaged 0.382 ppm. Using a subset of samples (n = 24), we determined that the major component in the muscle of Alaskan subsistence fish was methyl mercury. No correlation was observed between Hsp 60 or Hsp 70 expression in gill tissue and mercury concentrations in muscle tissue. Hsp 60 and Hsp 70 protein levels in the gills were correlated.

Alaska↗
PubMed1999

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates members of the transforming growth factor beta superfamily of signalling proteins (TGFbeta-FMs), such as BMP4 (ref. 1). By diffusing through extracellular matrices more efficiently than TGFbeta-FMs, noggin may have a principal role in creating morphogenic gradients. During mouse embryogenesis, Nog is expressed at multiple sites, including developing bones. Nog-/- mice die at birth from multiple defects that include bony fusion of the appendicular skeleton. We have identified five dominant human NOG mutations in unrelated families segregating proximal symphalangism (SYM1; OMIM 185800) and a de novo mutation in a patient with unaffected parents. We also found a dominant NOG mutation in a family segregating multiple synostoses syndrome (SYNS1; OMIM 186500); both SYM1 and SYNS1 have multiple joint fusion as their principal feature. All seven NOG mutations alter evolutionarily conserved amino acid residues. The findings reported here confirm that NOG is essential for joint formation and suggest that NOG requirements during skeletogenesis differ between species and between specific skeletal elements within species.

Abnormalities, Multiple↗
PubMed1999

Prenatal diagnosis and the subsequent mutation analysis in a family with carbohydrate-deficient glycoprotein type I syndrome: growing evidence to support founder effects within CDG1 populations.

Carbohydrate deficient-glycoprotein syndrome type I (CDG1 or Jaeken Syndrome) is an autosomal recessive multisystem disease with severe early involvement of the nervous system. Mutations in the phosphomannomutase 2 (PMM2) gene have recently been identified in 16 affected individuals. In the current study, we have described a CDG1 family where gene tracking had been used to perform prenatal diagnosis before the isolation of the CDG1 gene. Haplotype analysis indicated that the unborn child had inherited the maternal 'normal' allele, but a critical recombination event meant that it was impossible to determine if the child had inherited the paternal mutation. Single-strand conformation polymorphism and sequence analysis revealed that the mother was a carrier of a C-->A transversion at position 357 (F119L), and that the father was a carrier of a G-->A transition at position 425 (R141H). The unborn child had inherited the paternal R141H mutation. Because only three mutations have previously been reported in UK families, of which F119L and R141H are two, and given that there is evidence of allelic association in CDG1 families, it is possible that a limited number of ancestral mutations have given rise to most cases of CDG1 in any one population.

Chromosomes, Human, Pair 16↗
PubMed1997

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, mental retardation, and renal anomalies. To detect linkage to BBS loci, 29 BBS families, of mixed but predominantly European ethnic origin, were typed with 37 microsatellite markers on chromosomes 2, 3, 11, 15, 16, and 17. The results show that an estimated 36-56% of the families are linked to the 11q13 chromosomal site (BBS1) previously described by M. Leppert et al. (1994, Nature Genet. 7, 108-112), with the gene order cen-D11S480-5 cM-BBS1-3 cM-D11S913/D11S987-qter. A further 32-35% of the families are linked to the BBS4 locus, reported by R. Carmi et al. (1995, Hum. Mol. Genet. 4, 9-13) in chromosomal region 15q22.3-q23, with the gene order cen-D15S125-5 cM-BBS4-2 cM-D15S131/D15S204-qter. Three consanguineous BBS families are homozygous for three adjacent chromosome 15 markers, consistent with identity by descent for this region. In one of these families haplotype analysis supports a localization for BBS4 between D15S131 and D15S114, a distance of about 2 cM. Weak evidence of linkage to the 16q21 (BBS2) region reported by A. E. Kwitek-Black et al. (1993, Nature Genet. 5, 392-396) was observed in 24-27% of families with the gene order cen-D16S408-2 cM-BBS2-5 cM-D16S400. A fourth group of families, estimated at 8%, are unlinked to all three of the above loci, showing that at least one other BBS locus remains to be found. No evidence of linkage was found to markers on chromosome 3, corresponding to the BBS3 locus, reported by V. C. Sheffield et al. (1994, Hum. Mol. Genet. 3, 1331-1335), or on chromosome 2 or 17, arguing against the involvement of a BBS locus in a patient with a t(2;17) translocation.

Abnormalities, Multiple↗
PubMed1996

The frequency of posterior urethral valves in Oman.

OBJECTIVE: To ascertain the frequency of posterior urethral valves (PUV) in Oman, using hospital records. MATERIALS AND METHODS: The resident population of Oman is 1.5 million and all complex paediatric surgical cases are referred to a single unit in the capital city of Muscat. A register of patients has been kept in that unit since 1988. Hospital case-records were reviewed to determine associated abnormalities, date and place of birth, tribal origin and, from further interviews, the family pedigree and degree of consanguinity. RESULTS: This retrospective survey identified 56 Omani children born between 1989 and 1994 who were treated in the Paediatric Surgery Department at the Royal Hospital, Muscat for congenital PUV. The calculated incidence was 1 in 2375 newborn males, which is 2-4 times higher than that previously reported in other populations. There was no relation to the estimated month of conception and therefore environmental hyperthermia due to the extreme ambient temperature does not seems not to be a causative factor. There was consanguinity in 40 of 46 cases (87%) where a complete family history was available. Parents were first cousins in 54% of cases, compared with the background rate of 24% in over 6000 families interviewed in the antenatal clinics at six hospitals in Oman. There was also a concentration of PUV within specific tribes. About one-third of the cases also had associated congenital abnormalities, the most frequent of which were genitourinary (17%), but gastrointestinal (9%) and spinal (7%) defects were also observed. CONCLUSION: The frequency of PUV in newborn Omani males was 1 in 2375, which is considerably higher than any previously reported series. This was associated with an increased rate of consanguinity, but there was no clear pattern of inheritance.

Child↗
PubMed1996

Huntington's disease: a molecular genetic and CT comparison.

Huntington's disease is a progressive neurodegenerative disease in which the molecular abnormality has recently been described. Before the availability of this molecular marker diagnosis depended on clinical findings, supported in some instances by neuroimaging using CT or MRI. The imaging modalities may show atrophy of the heads of caudate nuclei in affected people. An attempt was made to validate these imaging findings using the molecular test as "gold standard." Retrospective analysis of cranial CT in 16 patients with Huntington's disease and 16 age and sex matched controls was performed. There was a highly significant difference in caudate head size (P < 0.00001) between patients with Huntington's disease and control subjects. However, the sensitivity of diagnosis based on radiological examination alone was only 87.5% in this study. Thus the sensitivity of CT is insufficient to justify its routine use in the investigation of suspected Huntington's disease, unless genetic tests are negative and other diagnoses need to be excluded.

Adult↗
PubMed1995

A new X-linked mental retardation syndrome.

There are now more than 70 X-linked mental retardation syndromes associated with physical findings documented in McKusick's "Mendelian Inheritance in Man". We describe a boy and his maternal uncle who appear to have a previously unreported X-linked mental retardation syndrome, consisting of moderate mental retardation, coarse facial features, epilepsy and slowly progressive joint contractures.

Adolescent↗
PubMed1995

Genetic analysis of 20 families with autosomal dominant adult polycystic kidney disease from South West Thames Region.

Twenty families with autosomal dominant polycystic kidney disease from S. W. Thames Region were analysed using markers for chromosome 16p13.3, the site of the common mutation (PKD1). Six families gave a negative lod-score for 3'HVR, the most informative distal marker. This could be explained in four cases by recombination events. Of the two families where this was not an explanation, one, of Italian origin, was unequivocally unlinked for all markers, and the other was more likely to be non-PKD1 than linked to 16p13.3. The Italian family was ascertained through the Blood Pressure Unit, and the other via the Genetic Clinic. No members of either family had ever attended a renal clinic. The remaining 18 families either came via renal clinics, or had at least one member attending such a centre.

Adult↗
PubMed1994

Secretion of atrial and brain natriuretic peptides from human cardiac atrial explants in culture: effect of dynorphin.

We have previously developed a method for maintaining human cardiac explants in culture under serum-free conditions, for the assessment of cardiac endocrine function and myocardial growth factors. In order to assess the local role of dynorphin in the human heart, we studied the effects of dynorphin on the secretion of atrial natriuretic peptide and brain natriuretic peptide by human cardiac atrial explants. Dynorphin did not affect the basal secretion of brain natriuretic peptide, but clearly enhanced the release of atrial natriuretic peptide from the human cardiac explants in culture. The atrial content of brain natriuretic peptide was not significantly reduced, whereas the atrial content of atrial natriuretic peptide in cultured explants was reduced two-fold in the presence of dynorphin. These findings indicate that dynorphin may have a direct stimulatory effect on the release of atrial natriuretic peptide, but not brain natriuretic peptide, from human cardiac atria.

Atrial Natriuretic Factor↗
PubMed1993

Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients.

OBJECTIVES: The purpose of this study was to determine the incidence of cardiologic abnormalities in Noonan syndrome. BACKGROUND: The incidence of cardiac abnormalities in Noonan syndrome remains unknown, largely because of such difficulties as assembling a substantial cohort, ensuring a correct phenotypic diagnosis and providing accurate definitions of the most frequent abnormalities--pulmonary stenosis and left ventricular hypertrophy. METHODS: A cohort of 145 patients was assembled, and before cardiologic assessment two independent geneticists scrutinized the phenotype. The diagnosis was confirmed in 118 patients, and they were studied by two-dimensional and Doppler echocardiography. RESULTS: A dysplastic pulmonary valve was present in eight patients (7%) and was associated with significant stenosis in six (75%) of the eight. Significant stenosis was present in 22 (20%) of 110 patients without dysplasia. Left ventricular hypertrophy was present in 29 patients (25%) without significant pulmonary stenosis. Localized anterior septal hypertrophy was the most common pattern in 12 (41%) of 29 patients. Diffuse hypertrophy involving the entire septum and the free wall was present in nine patients (31%) and was severe (> 1.7 cm) in five. Other abnormalities included secundum atrial septal defects (10%). CONCLUSIONS: The high incidence of cardiac abnormalities suggests that echocardiographic and Doppler evaluation of patients with the Noonan phenotype is important because it will aid in genetic counseling and in the assessment of the natural history of--and, ultimately, identification of the gene(s) responsible for--Noonan syndrome.

Adolescent↗
PubMed1993

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.

Waardenburg syndrome (WS) is a combination of deafness and pigmentary disturbances, normally inherited as an autosomal dominant trait. The pathology involves neural crest derivatives, but WS is heterogeneous clinically and genetically. Some type I WS families show linkage with markers on distal 2q and in three cases the disease has been attributed to mutations in the PAX3 gene. PAX3 encodes a paired domain, a highly conserved octapeptide and probably also a paired-type homeodomain. Here we describe a further three PAX3 mutations which cause WS; one alters the octapeptide motif plus the presumed homeodomain; a second alters all three elements and the third alters the paired box alone. The latter occurs in a family with probable type 2 WS, a clinical variant usually considered not to be allelic with type 1 WS.

Amino Acid Sequence↗
PubMed1993

Antibacterial activities of OPC-17116, ofloxacin, and ciprofloxacin against 200 isolates of Neisseria gonorrhoeae.

OPC-17116 is a new fluoroquinolone with potent activity against aerobic and anaerobic organisms. We evaluated the susceptibilities of 200 clinical gonococcal isolates including organisms with plasmid and chromosomally mediated resistance to beta-lactams and tetracycline. The antibiotics studied included OPC-17116, ofloxacin, ciprofloxacin, penicillin, tetracycline, erythromycin, azithromycin, and ceftriaxone. All isolates tested were susceptible to the quinolone class of antibiotics. The MICs of ciprofloxacin, ofloxacin, and OPC-17116 for 90% of isolates tested were 0.004, 0.03, and 0.004 micrograms/ml, respectively. For organisms with chromosomally mediated resistance to penicillin and tetracycline, geometric mean MICs of all antibiotics including the quinolones were increased.

Anti-Infective Agents↗