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1.
J Dairy Sci ; 2024 Jun 20.
Article in English | MEDLINE | ID: mdl-38908699

ABSTRACT

Our objective was to compare abomasal infusions of linoleic (18:2n-6) and α-linolenic (18:3n-3) acids on the enrichment of n-6 and n-3 fatty acids (FA) into the plasma lipid fractions of lactating dairy cows and evaluate their potential carryover effects in plasma lipid fractions post-infusion. Six rumen-cannulated multiparous Holstein cows (252 ± 33 d in milk) were fed the same diet and assigned to 1 of 2 treatments in a completely randomized design with repeated measures. Treatments were abomasal infusions (67 g/d total FA) of 1) n-6 FA blend (N6) to provide approximately 43 g/d 18:2n-6 and 8 g/d of 18:3n-3; or 2) n-3 FA blend (N3) providing 43 g/d 18:3n-3 and 8 g/d 18:2n-6. Treatments were dissolved in ethanol, and the daily dose for each treatment was divided into 4 equal infusions, occurring every 6 h. The treatment period lasted from d 1 to 20, and the carryover period lasted from d 21 to 40. Results are presented as FA contents within each of the 4 main plasma lipid fractions: cholesterol esters (CE), phospholipids (PL); triglycerides (TG), and plasma nonesterified fatty acids. Concentrations of individual lipid fractions in plasma were not quantified. Plasma CE and PL had the highest content of polyunsaturated FA (PUFA) during both the treatment and carryover periods. In plasma PL, N3 increased the contents of total n-3 FA (134%), 18:3n-3 (267%), and eicosapentaenoic acid (96.3%, 20:5n-3), and decreased total n-6 FA (8.14%) and 18:2n-6 (8.16%) from d 4 to 20 compared with N6. In plasma CE, N3 increased the contents of total n-3 FA (191%) from d 4 to 20, 18:3n-3 from d 2 to 20 (178%), and 20:5n-3 from d 6 to 20 (59.9%), while N3 decreased total n-6 FA from d 4 to 20 (11.2%) and 18:2n-6 from d 2 to 20 (10.5%) compared with N6. In addition, compared with N6, N3 decreased arachidonic acid (20:4n-6) at d 2 (45%) and from d 10 to 20 (14.7%) in PL and tended to decrease 20:4n-6 without interacting with time for CE. Phospholipids were the only lipid fraction with detectable levels of docosahexaenoic acid (22:3n-6) in all samples, but we did not observe differences between treatments. In plasma TG, N3 increased the contents of total n-3 FA (135%) and 18:3n-3 (146%) from d 4 to 20, increased 20:5n-3 from d 12 to 20 (89%), decreased or tended to decrease total n-6 FA content from d 6 and 8 (26.9%), and tended to decrease 18:2n-6 at d 8 compared with N6. A similar pattern was observed for plasma nonesterified fatty acids. We observed positive carryover effects for both N3 and N6 at different degrees in all lipid fractions, with N3 promoting more consistent outcomes and increasing total n-3 FA throughout the carryover period (from d 22 to 40) in both PL (52.8%) and CE (68.6%) compared with N6. It is important to emphasize that the higher magnitude responses observed for n-3 FA are also influenced by the content of n-3 FA being much lower than those of n-6 FA in all lipid fractions. While these data provide important and robust information, future research quantifying changes in concentrations of individual lipid fractions in plasma and the entry and exit rates of specific FA will further enhance our understanding. In conclusion, abomasally infusing N3 and N6 increased the contents of n-3 and n-6 FA, respectively, in all plasma lipid fractions. These responses were more evident in PL and CE. We also observed positive carryover effects in all lipid fractions, where N3 had more consistent outcomes than N6. Our results indicate that dairy cows have a robust mechanism to conserve essential FA, with a pronounced preference for n-3 FA.

2.
J Dairy Sci ; 105(8): 7036-7046, 2022 Aug.
Article in English | MEDLINE | ID: mdl-35787326

ABSTRACT

Mitochondria are central to metabolism and are the primary energy producers for all biosynthesis, including lactation. The objectives of this study were to determine if high- and low-producing dairy cows exhibit differences in peripheral blood mononuclear cell mitochondrial enzyme activities of citrate synthase, complex I, complex IV, and complex V during early lactation and, thus, to determine whether those differences were related to differences in lactation performance in the dairy cow. Fifty-six Holstein cows were assigned to 1 of 4 groups: (1) primiparous high, (2) primiparous low, (3) multiparous high, or (4) multiparous low. Primiparous and multiparous cows were analyzed separately. Then, cows were divided into high or low production groups for each production parameter [peak milk, average milk, energy-corrected milk (ECM), fat-corrected milk (FCM), milk lactose, milk fat, milk protein, total solids (TS), solids-not-fat, feed efficiency, and somatic cell count (SCC)]. For all data analysis, production parameters are expressed as yields (kg/d) and SCC (103 cells/mL). High and low production groups were defined by their respective mean production parameters for the 56 cows, with below average cows defined as low and above average cows defined as high. Whole blood samples were collected at one time point, approximately 70 d in milk at 0800 h, and processed for crude mitochondrial extracts from peripheral blood mononuclear cells to determine the activity rates of mitochondrial enzymes. Milk samples were collected 9 times (3 d, 3 times per d) during the week of blood collection and analyzed for major components (fat, protein, lactose, TS, and SCC). Multiparous cows had lower citrate synthase activity than primiparous cows across all production parameters. High-producing cows had greater complex I activity for peak milk, milk yield, ECM, FCM, milk fat, TS, and feed efficiency, and greater complex V activity for ECM, FCM, milk lactose, milk fat, and TS across parities. These findings imply that the most influential respiratory chain enzymes on the level of milk production are those responsible for electron transport chain initialization and ATP production.


Subject(s)
Lactose , Leukocytes, Mononuclear , Animals , Cattle , Citrate (si)-Synthase , Diet/veterinary , Female , Lactation , Mitochondria , Parity , Pregnancy
3.
J Dairy Sci ; 102(7): 6555-6558, 2019 Jul.
Article in English | MEDLINE | ID: mdl-31128868

ABSTRACT

Precision dairy monitoring technologies have become increasingly popular for recording rumination and feeding behaviors in dairy cattle. The objective of this study was to validate the rumination and feeding time functions of the CowManager SensOor (Agis, Harmelen, the Netherlands) against visual observation in dairy heifers. The study took place over a 44-d period beginning June 1, 2016. Holstein heifers equipped with CowManager SensOor tags attached according to manufacturer specifications (n = 49) were split into 2 groups based on age, diet, and housing type. Group 1 heifers (n = 24) were calves (mean ± SD) 2.0 ± 2.7 mo in age, fed hay and calf starter, and housed on a straw-bedded pack. Group 2 heifers (n = 25) were 17.0 ± 1.3 mo in age, fed a TMR, confirmed pregnant, and housed in freestalls. Visual observation shifts occurred at 1500, 1700, 1900, and 2100 h. Each heifer was observed for 2 hour-long periods, with both observation periods occurring on the same day. Visual observations were collected using a synchronized watch, and "start" and "stop" times were recorded for each rumination and feeding event. For correlations, data from CowManager SensOor tags and observations were averaged, so a single 1-h observation was provided per animal, reducing the potential for confounding repeated measures being collected for each animal. Concordance correlations (CCC; epiR package; R Foundation for Statistical Computing, Vienna, Austria) and Pearson correlations (r; CORR procedure; SAS Institute Inc., Cary, NC) were used to calculate association between visual observations and technology-recorded behaviors. Visually observed rumination time was correlated with the CowManager SensOor (r = 0.63, CCC = 0.55). Visually observed feeding time was also correlated with the CowManager SensOor (r = 0.88, CCC = 0.72). The difference between technology-recorded data and visual observation was treated as the dependent variable in a mixed linear model (MIXED procedure of SAS). Time of day, age in months, and group were treated as fixed effects. Individual heifers were treated as random and repeated effects. The effects of time of day, age, and group on rumination and feeding times were not significant. The CowManager SensOor was more effective at recording feeding behavior than rumination behavior in dairy heifers. The CowManager SensOor can be used to provide relatively accurate measures of feeding time in heifers, but its rumination time function should be used with caution.


Subject(s)
Cattle/physiology , Feeding Behavior , Rumen/metabolism , Animal Feed/analysis , Animals , Female
4.
Neurology ; 58(11): 1597-602, 2002 Jun 11.
Article in English | MEDLINE | ID: mdl-12058085

ABSTRACT

OBJECTIVES: To evaluate the reliability and diagnostic accuracy of high-resolution MRI of the median nerve in a prospectively assembled cohort of subjects with clinically suspected carpal tunnel syndrome (CTS). METHODS: The authors prospectively identified 120 subjects with clinically suspected CTS from five Seattle-area clinics. All subjects completed a hand-pain diagram and underwent a standardized nerve conduction study (NCS). The reference standard for determining CTS status was a classic or probable hand pain diagram and NCS with a difference >0.3 ms between the 8-cm median and ulnar peak latencies. Readers graded multiple imaging parameters of the MRI on four-point scales. The authors also performed quantitative measurements of both the median nerve and carpal tunnel cross-sectional areas. NCS and MRI were interpreted without knowledge of the other study or the hand pain diagram. RESULTS: Intrareader reliability was substantial to near perfect (kappa = 0.76 to 0.88). Interreader agreement was lower but still substantial (kappa = 0.60 to 0.67). Sensitivity of MRI was greatest for the overall impression of the images (96%) followed by increased median nerve signal (91%); however, specificities were low (33 to 38%). The length of abnormal signal on T2-weighted images was significantly correlated with nerve conduction latency, and median nerve area was larger at the distal radioulnar joint (15.8 vs 11.8 mm(2)) in patients with CTS. A logistic regression model combining these two MR variables had a receiver operating characteristic area under the curve of 0.85. CONCLUSIONS: The reliability of MRI is high but the diagnostic accuracy is only moderate compared with a research-definition reference standard.


Subject(s)
Carpal Tunnel Syndrome/pathology , Magnetic Resonance Imaging/standards , Median Nerve/pathology , Adult , Female , Humans , Male , Predictive Value of Tests , Prospective Studies , Reference Standards , Reproducibility of Results
5.
Clin Genet ; 60(3): 188-97, 2001 Sep.
Article in English | MEDLINE | ID: mdl-11595020

ABSTRACT

Most but not all epidemiologic studies have shown that lipoprotein(a) [Lp(a)] is a risk factor for cardiovascular disease (CVD). Lp(a) levels are also strongly genetically influenced. The purpose of this study was to evaluate the association between Lp(a) levels in adult offspring and parental CVD mortality in 61 kindreds with familial forms of hyperlipidemia. The study sample consisted of offspring-parent pairs in which offspring had fasting Lp(a) measurements and parents had 20-year vital status data and standardized cause-of-death classification if deceased. Linear regression analyses, using a robust variance estimator, were performed separately for 241 offspring with known maternal history (114 mothers) and 194 offspring with known paternal history (93 fathers). Maternal history of CVD mortality was significantly (p=0.004) associated with 2.4-fold higher median Lp(a) levels in offspring compared with those with no maternal history, independent of diabetes, lipid-lowering medications and hormone use. No association was observed between paternal CVD mortality and offspring Lp(a) levels (p=0.505). Adjusting for apolipoprotein(a) kringle 4 number did not alter these parent-specific associations. In conclusion, Lp(a) levels in offspring may be associated with maternal but not paternal history of CVD mortality. This parent-specific finding needs to be confirmed in other samples of high-risk families.


Subject(s)
Cardiovascular Diseases/diagnosis , Cardiovascular Diseases/etiology , Hyperlipidemia, Familial Combined/diagnosis , Hyperlipidemia, Familial Combined/genetics , Hypertriglyceridemia/diagnosis , Hypertriglyceridemia/genetics , Lipoprotein(a)/biosynthesis , Lipoprotein(a)/chemistry , Lipoprotein(a)/genetics , Adolescent , Adult , Cardiovascular Diseases/mortality , Cholesterol/metabolism , Dose-Response Relationship, Drug , Family Health , Fathers , Female , Follow-Up Studies , Humans , Hyperlipidemia, Familial Combined/mortality , Kringles , Linear Models , Male , Middle Aged , Mothers , Pedigree , Polymorphism, Genetic , Risk Factors , Time Factors
6.
Circulation ; 101(24): 2777-82, 2000 Jun 20.
Article in English | MEDLINE | ID: mdl-10859281

ABSTRACT

BACKGROUND: Familial combined hyperlipidemia (FCHL) and familial hypertriglyceridemia (FHTG) are 2 of the most common familial forms of hyperlipidemia. There is a paucity of prospective data concerning the risk of cardiovascular disease (CVD) in such families. The purposes of this study were to estimate 20-year total and CVD mortality risk among relatives in these families and to evaluate plasma triglyceride as a predictor of death. METHODS AND RESULTS: The study was based on lipid and medical history data from 101 families ascertained in 2 studies conducted in the early 1970s. Vital status and cause of death was determined during 1993 to 1997 for 685 family members, including first-degree relatives of the probands and spouse control subjects. Compared with spouse control subjects, 20-year CVD mortality risk was increased among siblings and offspring in FCHL (relative risk 1.7, P=0.02) after adjustment for baseline covariates. In FHTG families, the relative risk was also 1.7 but was not statistically significant (P=0.39). Baseline triglyceride was associated with increased CVD mortality risk independent of total cholesterol among relatives in FHTG families (relative risk 2.7, P=0.02) but not in FCHL families (relative risk 1.5, P=0.16) after adjustment for baseline covariates. CONCLUSIONS: This prospective study establishes that relatives in FCHL families are at increased risk for CVD mortality and illustrates the need for effective prevention strategies in this group. Baseline triglyceride level predicted subsequent CVD mortality among relatives in FHTG families, adding to the growing evidence for the importance of hypertriglyceridemia as a risk factor for CVD.


Subject(s)
Cardiovascular Diseases/etiology , Cardiovascular Diseases/mortality , Hypertriglyceridemia/complications , Hypertriglyceridemia/genetics , Adult , Cardiovascular Diseases/blood , Female , Forecasting , Humans , Hyperlipidemias/blood , Hyperlipidemias/complications , Hyperlipidemias/genetics , Hypertriglyceridemia/blood , Longitudinal Studies , Male , Middle Aged , Prospective Studies , Risk Factors , Triglycerides/blood
7.
Epidemiology ; 6(3): 306-10, 1995 May.
Article in English | MEDLINE | ID: mdl-7619941

ABSTRACT

In a population-based case-control study, we examined relations between maternal and paternal occupations and the risk of infant craniosynostosis. Cases were 212 children born to Colorado residents and diagnosed during 1986-1989 with radiographically confirmed synostosis of unknown etiology. Controls were 291 children randomly selected from state birth records and frequency matched to cases on month and year of birth. Trained staff conducted telephone interviews of mothers of case and control children. Information was obtained about each job held by either parent during the pregnancy, and any job that the father held during the 3 months before the last menstrual period before conception. Jobs were coded using 1980 Census occupation and industry codes. We found no strong associations for maternal occupations. Of paternal occupations, two groups were associated with moderately increased odds ratios after adjustment for maternal smoking and altitude: agriculture and forestry (odds ratio = 2.3; 95% confidence interval = 1.0-5.2), and mechanics and repairmen (odds ratio = 2.7; 95% confidence interval = 1.2-6.1). For both, the odds ratios were higher for males.


Subject(s)
Craniosynostoses/epidemiology , Occupations , Parents , Adolescent , Adult , Case-Control Studies , Colorado/epidemiology , Craniosynostoses/etiology , Female , Humans , Male , Occupational Exposure/adverse effects , Odds Ratio , Paternal Exposure/adverse effects , Pregnancy , Random Allocation , Risk Factors , Sex Distribution
8.
Teratology ; 50(1): 13-8, 1994 Jul.
Article in English | MEDLINE | ID: mdl-7974250

ABSTRACT

We analyzed data from a population-based case control study to determine whether maternal prenatal smoking or alcohol drinking might increase the risk of craniosynostosis. Between 1986 and 1989, the Colorado Craniosynostosis Registry ascertained 233 children whose diagnoses were confirmed by an independent radiologist. Of the 212 (91%) cases who participated 86 had lambdoid, 69 had sagittal, 25 had coronal, 18 had metopic, and 14 had multiple suture synostosis. Random sampling of birth certificate records yielded 367 eligible controls, of whom 291 (79%) participated. Study staff interviewed case and control mothers between 1989 and 1991 for prenatal smoking and alcohol drinking. We used Mantel-Haenszel and polychotomous logistic regression techniques to estimate the relative odds of craniosynostosis for smoking and drinking in all cases and in relevant case subgroups. Smoking was associated with a relative odds of craniosynostosis of 1.7 (95% confidence interval, 1.2-2.6). For smoking of more than one pack per day, the relative odds were 3.5 (1.5-8.4) for all types of synostosis combined, and 5.6 (2.1-15.3) for coronal synostosis. No strong or significant association was noted for drinking. Maternal prenatal smoking may increase the risk of craniosynostosis in this population.


Subject(s)
Craniosynostoses/etiology , Prenatal Exposure Delayed Effects , Smoking/adverse effects , Adult , Alcohol Drinking/adverse effects , Case-Control Studies , Child , Child, Preschool , Colorado/epidemiology , Craniosynostoses/epidemiology , Female , Humans , Infant , Logistic Models , Male , Odds Ratio , Pregnancy , Risk Factors
9.
Aust N Z J Surg ; 62(6): 508-10, 1992 Jun.
Article in English | MEDLINE | ID: mdl-1590726

ABSTRACT

A case is reported in which entrapped polymethylmethacrylate following traumatic dislocation of a total hip replacement prevented complete reduction. A combined arthroscopic and fluoroscopic technique was used to remove the entrapped polymethylmethacrylate. Manipulation of the total hip prosthesis was done after removal of polymethylmethacrylate to minimize mechanical abrasion. This technique allows direct visual assessment of the articulating surfaces as well as the mechanical stability of the prosthesis. The morbidity related to the procedure is minimal and a short rehabilitation period is the major advantage.


Subject(s)
Arthroscopy , Bone Cements , Hip Joint , Hip Prosthesis , Methylmethacrylates , Aged , Female , Hip Dislocation/therapy , Humans
10.
Aust N Z J Surg ; 62(1): 39-44, 1992 Jan.
Article in English | MEDLINE | ID: mdl-1731736

ABSTRACT

We reviewed ninety-three patients who had one hundred and seven complete fractures of the femur between them and were treated over a twenty-five year period in Western Australia and South Australia. Operative surgical management of complete fractures in the middle and distal thirds was usually successful. In contrast, fractures proximal to the middle third were regularly associated with non-union, implant failure and requirement for revision surgery. In view of this significant difference in outcome after fracture of the pagetic femur in different sites, a comprehensive surgical management strategy is recommended in order to avoid complications.


Subject(s)
Femoral Fractures/surgery , Osteitis Deformans/complications , Aged , Female , Femoral Fractures/etiology , Femoral Neck Fractures/etiology , Femoral Neck Fractures/surgery , Follow-Up Studies , Fracture Fixation, Internal , Hip Fractures/etiology , Hip Fractures/surgery , Humans , Male , Middle Aged , Retrospective Studies , Treatment Outcome
11.
J Pediatr ; 116(4): 581-6, 1990 Apr.
Article in English | MEDLINE | ID: mdl-2319405

ABSTRACT

Thirteen patients with hypopigmentation of the skin characteristic of hypomelanosis of Ito, and with developmental disabilities or structural malformations, or both, were examined at our center. Eight were found to have abnormal karyotypes in lymphocytes, fibroblasts, or both. No single clinical feature was predictive of chromosome imbalance in this group of patients. Cytogenetic findings included a balanced de novo X-autosome translocation; ring 10; 45,X/46,X,+ring; mosaic del 13q11 (fibroblasts); mosaic triploidy (fibroblasts); mosaic tetrasomy 12p (fibroblasts); mosaic apparently balanced 15;22 translocation (peripheral blood); and mosaic trisomy 18 (peripheral blood). Hypomelanosis of Ito is characterized by swirly hypopigmentation or depigmentation of the skin with or without other malformations. Autosomal dominant, autosomal recessive, and X-linked dominant inheritance have been suggested but not confirmed. Chromosomal aneuploidy has also been reported. We believe that hypomelanosis of Ito is an etiologically heterogeneous physical finding, and recommend karyotyping of multiple tissues of all patients with abnormal cutaneous pigmentation associated with developmental delay or structural malformations.


Subject(s)
Chromosome Aberrations/genetics , Mosaicism/genetics , Pigmentation Disorders/genetics , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Karyotyping , Male , Pigmentation Disorders/pathology , Syndrome , Translocation, Genetic , X Chromosome
12.
Am J Med Genet ; 33(3): 369-75, 1989 Jul.
Article in English | MEDLINE | ID: mdl-2529766

ABSTRACT

In a previous case of a newborn infant with typical Down syndrome, chromosome analysis indicated the presence of an unusual and complex translocation of chromosome 21. The patient's cells contained one normal chromosome 21 and a rearranged, F group-sized submetacentric chromosome. This abnormal chromosome appeared to involve duplication of the distal portion of 21q with translocation to the short arm, and a deletion of C-band-positive centromeric heterochromatin. Using linearly ordered cloned DNA probes, we report the detailed molecular examination of this abnormal chromosome, which has been isolated on a hamster background in a hybrid cell line. Both short arm and pericentromeric sequences are present on this chromosome, as well as distal 21q sequences. However, a substantial portion of proximal 21q is deleted. The distal boundary of this deleted section can be pinpointed within the region between two loci (D21S8 and D21S54), a distance of about 5,000 kb. This study illustrates the power of using precisely mapped, linearly ordered DNA probes to characterize this type of rearrangement. In addition, this hybrid cell line can also be used as a member of a mapping panel to map DNA sequences regionally on chromosome 21.


Subject(s)
Chromosomes, Human, Pair 21/ultrastructure , DNA Probes , Gene Rearrangement , Animals , Blotting, Southern , Chromosome Mapping , Cricetinae , Down Syndrome/genetics , Humans , Hybrid Cells , In Vitro Techniques , Male , Translocation, Genetic
13.
Clin Genet ; 34(6): 382-5, 1988 Dec.
Article in English | MEDLINE | ID: mdl-3233786

ABSTRACT

A male with mosaicism for ring 19 presented with a complex cardiac malformation, microcephaly and minor dysmorphic features. Intellectual development has been within normal limits. This chromosome aberration has been reported only twice before and no clear phenotype-karyotype correlations are recognized.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations , Chromosomes, Human, Pair 19 , Mosaicism , Ring Chromosomes , Humans , Infant , Male
14.
J Pediatr ; 113(3): 469-73, 1988 Sep.
Article in English | MEDLINE | ID: mdl-3411391

ABSTRACT

We report three boys with severe hypospadias and bilaterally palpable testes with abnormalities of the Y chromosome detected by Q-banding. Severe hypospadias with palpable testes is an unusual presentation for Y chromosome abnormalities. Based on our experience, we recommend that boys with this phenotype undergo complete cytogenetic evaluation, because Y chromosome abnormalities prompt additional management concerns.


Subject(s)
Hypospadias/genetics , Sex Chromosome Aberrations , Y Chromosome , Humans , Infant, Newborn , Male , Phenotype
15.
AJNR Am J Neuroradiol ; 9(4): 779-85, 1988.
Article in English | MEDLINE | ID: mdl-3135722

ABSTRACT

We reviewed the records of 28 patients with 30 burst-dispersion spinal fractures treated since the introduction of CT facilities in Western Australia. Twenty-five patients showed spinal canal deformity and stenosis with bone fragments protruding into the canal on the initial scan. Of these, 22 patients were treated nonsurgically. Fifteen of the conservatively treated patients were available for follow-up, and they form the basis of this report. Thirteen of the 15 patients who had repeat CT at follow-up showed correction of the previously measured spinal canal stenosis by spontaneous resorption of intraspinal bone fragments. In view of this previously unreported finding, it is suggested that the role of surgical correction of spinal canal stenosis resulting from displaced bone fragments after trauma be more clearly defined.


Subject(s)
Fractures, Bone/complications , Spinal Injuries/complications , Spinal Stenosis/etiology , Adolescent , Adult , Follow-Up Studies , Fractures, Bone/diagnostic imaging , Humans , Male , Spinal Injuries/diagnostic imaging , Spinal Stenosis/diagnostic imaging , Tomography, X-Ray Computed
16.
Am J Med Genet ; 27(1): 189-94, 1987 May.
Article in English | MEDLINE | ID: mdl-3605195

ABSTRACT

We report on a male with trisomy Xq resulting from an isochromosome Xq which is preferentially inactivated: 47,XY,+i(Xq). Six previous cases have been reported. These patients are similar to patients with classical Klinefelter syndrome (47,XXY) in that they have infertility, decreased masculinization, gynecomastia, and elevated luteinizing hormone (LH) and follide stimulating hormone (FSH) levels. They may differ in having average intelligence and normal to short stature. These findings indicate that extra copies of the long arm of X have phenotypic expression, even though activated only in early development.


Subject(s)
Klinefelter Syndrome/genetics , X Chromosome , Adolescent , Body Height , Dosage Compensation, Genetic , Humans , Intelligence , Klinefelter Syndrome/pathology , Klinefelter Syndrome/psychology , Male , Phenotype
18.
Eur J Clin Pharmacol ; 32(2): 135-9, 1987.
Article in English | MEDLINE | ID: mdl-3582476

ABSTRACT

Effects of aspirin (325 and 650 mg) and paracetamol (500 and 1000 mg), and of the centrally acting analgesics meptazinol (100 and 200 mg) and pentazocine (25 and 50 mg) on visuo-motor coordination and dynamic visual acuity, together with critical flicker fusion, digit symbol substitution, complex reaction time and subjective assessments of mood, were studied from 0.75-2.0 h after ingestion by seven healthy female adults. The study was double-blind and placebo controlled, and triprolidine (10 mg) was used as the active control. No effects of meptazinol and paracetamol on performance were observed. Pentazocine (25 mg) impaired performance on digit symbol substitution (p less than 0.05) and aspirin (650 mg) appeared to have shortened complex reaction time (p less than 0.05). Meptazinol (100 mg) increased the component of mood assessments related to wakefulness (p less than 0.05). Impaired performance with pentazocine may involve opioid receptor activity, while the apparent alerting effect of meptazinol may relate to its cholinergic activity. The possible effect of aspirin on reaction time needs to be confirmed.


Subject(s)
Acetaminophen/pharmacology , Aspirin/pharmacology , Azepines/pharmacology , Meptazinol/pharmacology , Pentazocine/pharmacology , Psychomotor Performance/drug effects , Acetaminophen/adverse effects , Adult , Aspirin/adverse effects , Emotions/drug effects , Female , Flicker Fusion/drug effects , Humans , Meptazinol/adverse effects , Pentazocine/adverse effects , Reaction Time/drug effects , Triprolidine/pharmacology , Visual Acuity/drug effects
19.
Eur J Clin Pharmacol ; 32(4): 419-21, 1987.
Article in English | MEDLINE | ID: mdl-2886343

ABSTRACT

Effects of loratadine (10, 20 and 40 mg) on visuo-motor coordination, dynamic visual acuity, short-term memory, digit symbol substitution, and on subjective assessments of mood were tested before, and 0.5, 1.5, 3.5 and 5.5 h after ingestion by 6 healthy female adults. There were no effects of 10 or 20 mg loratadine. With 40 mg loratadine the number of substitutions on the digit symbol test was reduced 5.5 h after ingestion, and on dynamic visual acuity response time was increased at 3.5 h and the number of responses missed was increased at 5.5 h. Triprolidine (10 mg) which was used as active control impaired performance on all the tasks and impaired performance was observed at all times after ingestion. Loratadine is a promising antihistamine for individuals involved in skilled activity. The anticipated single daily dose of 10 mg is unlikely to impair performance.


Subject(s)
Brain/drug effects , Cyproheptadine/analogs & derivatives , Histamine H1 Antagonists/pharmacology , Psychomotor Performance/drug effects , Adult , Cyproheptadine/pharmacology , Female , Humans , Loratadine
20.
Br J Clin Pharmacol ; 22(5): 507-12, 1986 Nov.
Article in English | MEDLINE | ID: mdl-3024689

ABSTRACT

Effects of codeine (30, 60 and 90 mg) on visuo-motor coordination and dynamic visual acuity, together with critical flicker fusion, digit symbol substitution, complex reaction time and subjective assessments of mood, were studied from 0.75-2.0 h after ingestion by six healthy female adults. The study was double-blind and placebo controlled, and triprolidine (10 mg) was used as the active control. The effect on visuo-motor coordination was limited and was dose related and linear, and performance was altered on visuo-motor coordination with 60 and 90 mg codeine, and on dynamic visual acuity with 90 mg codeine (P less than 0.05). No other effect of codeine was detected. Modulated neuromuscular function is likely to be the common denominator of the changes in performance with codeine, though nausea, but not sedation, may be a contributory factor. It is possible that altered performance with codeine may involve interactions with different receptors than those which lead to sedation.


Subject(s)
Codeine/pharmacology , Psychomotor Performance/drug effects , Receptors, Opioid/drug effects , Visual Acuity/drug effects , Adult , Affect/drug effects , Clinical Trials as Topic , Codeine/adverse effects , Double-Blind Method , Female , Flicker Fusion/drug effects , Humans , Reaction Time/drug effects , Triprolidine/adverse effects , Triprolidine/pharmacology
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