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Biomedical subjects

R Genovese

Publications and source records attributed to R Genovese.

8 recordsLinked to original sources
PubMed2006

Preimplantation genetic diagnosis for Pelizaeus-Merzbacher disease with testing for age-related aneuploidies.

Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive demyelinating disorder of the central nervous system, caused by mutations of the proteolipid protein 1 gene (PLP1 gene). As no specific therapy is available for PMD, preimplantation genetic diagnosis (PGD) may be a useful option for couples carrying this mutation. PGD was performed for a couple who had had one child with the L86P mutation in exon 3 of the PLP1 gene. Because of advanced maternal age, PGD for this single-gene disorder was performed together with testing for chromosomal abnormalities. Polar bodies and blastomeres were tested for the presence of maternal mutation and closely linked markers DXS8020 and PLP5' (CA)n. The same blastomeres were also tested for the copy number of chromosomes 13, 16, 18, 21, 22, X and Y, and five chromosomally abnormal embryos were identified. A total of three embryos predicted to be unaffected and free of chromosomal disorder were transferred back to the patient, resulting in a twin pregnancy and the birth of two healthy female infants confirmed to be free of PMD, representing the first PGD for PMD combined with aneuploidy testing.

Adult↗
PubMed2006

Effect of tracheal mucus and tracheal cytology on racing performance in Thoroughbred racehorses.

REASON FOR PERFORMING STUDY: Accumulations of mucus within the trachea are often found during endoscopic examinations of the airways of poorly performing racehorses, but the clinical importance of this finding is unknown. OBJECTIVES: To determine the effect of tracheal mucus, pharyngeal lymphoid hyperplasia (PLH) and cytological indices of tracheal aspirate on racing performance in Thoroughbred horses assessed by race place and whether the horse was raced. METHODS: Endoscopic examination of the nasopharynx, larynx and trachea was performed, and a tracheal aspirate obtained monthly at Thistledown racetrack from April to December, 2002 and 2003. Horses received a score of 0-4 for the degree of PLH and 0-4 for the amount of mucus visible in the trachea. The tracheal aspirate was assessed for turbidity, and total and differential cell counts. Generalised estimating equations models were used as repeated measures models for each risk factor and the level of association assessed through the risk factor's P value in the model. RESULTS: Moderate to severe tracheal mucus (2-4) was a risk factor for poor racing performance. There was no association between degree of PLH, cell counts or turbidity of tracheal wash fluid and racing performance. However, horses that raced had higher total neutrophil counts in tracheal wash aspirates than horses that did not race. CONCLUSIONS: Grades 2-4 tracheal mucus should be considered a potential cause of poor racing performance in Thoroughbred horses. CLINICAL RELEVANCE: Because moderate to severe tracheal mucus accumulation, and not increased tracheal neutrophils, was a risk factor for poor racing performance, functionally significant airway inflammation may best be confirmed by the presence of mucus rather than increased number of neutrophils in the trachea.

Age Factors↗
PubMed1997

Immunity to tetanus in the 3-20 year age group in Italy.

In Italy, systematic mandatory tetanus immunization of children started in 1968. In 1989, immunity against tetanus was assessed in a random sample of 758 healthy subjects aged 3-20 y, from four Italian cities. There were 257 subjects 3-5 y old all residing in Southern Italy and 501 subjects 11-20 y old from both the South and North. The overall prevalence of non-immune subjects was 19.1%, without difference by sex. The rates of subjects lacking protective antibody titres was 25.3% in children 3-5 y old (all coming from South and the islands), 11.5% in those 11 y old, and 18.9% in the 18-20 y age-group, respectively. Subjects 11-20 y old residing in the South and the islands were more likely to be non-immune that those residing in the North (20.2% vs 6.0%; P < 0.01). Socio-demographic indicators such as lowest paternal education and largest family size were both unassociated with lack of protective antibodies. These findings indicate that an high rate of children in South of Italy do not have protective antibody levels, probably as consequence of lack of compliance with the vaccination programme. More efforts should be addressed to decrease geographical inequalities in the delivery of health care.

Adolescent↗
PubMed1994

Practical management of superficial digital flexor tendinitis in the performance horse.

The authors of this section represent a broad range of practice experience with horses that perform in rigorous and varied sport competitions. Each breed and performance application represent unique challenges of diagnosis and uncompromising demands on rehabilitated tendon injuries. This article will serve to guide, stimulate, and encourage veterinarians to apply scientific criteria to the evaluation of tendinitis therapy in the years to come so that we can arrive at a more valid consensus as to the "best" means of tendon and ligament injury management.

Animals↗
PubMed1994

A prospective randomized comparison of the accuracy of computer-assisted versus GUSTO nomogram--directed heparin therapy.

Failure to adequately anticoagulate the blood of patients receiving recombinant tissue plasminogen activator (TPA) leads to greater rates of rethrombosis. In a multicentered, randomized trial in 51 patients we compared the ability to achieve and maintain therapeutic anticoagulation by use of computer-assisted heparin therapy or the GUSTO (Global Utilization of Streptokinase and TPA for Occluded Coronary Arteries) heparin nomogram guidelines in patients with myocardial infarction treated with recombinant TPA. Heparin therapy was initiated with either computer-generated starting doses or GUSTO guideline starting doses. Activated partial thromboplastin times were measured every 6 to 8 hours for the first 24 hours. The therapeutic range used in this trial was 1.5 to 2.5 times the patient's baseline activated partial thromboplastin time (APTT). Ninety-four percent of the APTT ratios in the computer group were equal to or greater than 1.5 in the first 24 hours compared with 78% in the GUSTO group (p < 0.009). No significant difference in bleeding was found (7.7% for GUSTO; 4.2% for computer). Incremental time-dependent changes in heparin dose were found (day 1, 1110 +/- 243 units/hr, APTT ratio = 2.5 +/- 1.4; day 3, 1380 +/- 374 units/hr, APTT ratio, 1.9 +/- 0.4). Computer-assisted heparin therapy TPA results in superior anticoagulation accuracy compared with the GUSTO guidelines. In addition, the pharmacodynamic response to heparin changes in the 2 to 3 days after administration of TPA, leading to greater heparin requirements.

Aged↗
PubMed1994

[Herpes zoster and post-herpetic neuralgia. Comparison between elderly patients and young adults treated with acyclovir].

Herpes zoster (HZ) is a common skin disease due to a virus identical to that responsible for chickenpox. In a variable number of cases neuritic pain persist after cutaneous healing. Aim of this investigation was to analyze zoster clinical evolution in 102 immunocompetent patients, subdivided by age (< 60 years and > or = 60 years) and sex, after treatment with acyclovir (4 g/die x 10 days). Signs and symptoms of the disease were evaluated, with particular attention to pain and the duration of post-herpetic neuralgia. Vescicular eruption was most frequently found in the thoraco-abdominal region and in the trigeminal one, with no significant differences among the subgroups. Two thirds of the subjects complained of pain and it was prevalent in female sex (84% of cases vs 53%, p < 0.01) but not in any age-class. After 1 months from the episode (and its pharmacological treatment), post-herpetic neuralgia was still present in about 20% of the patients, above all in those > or = 60 years; this last difference reached statistical significance after 6 months (9.7% vs 1.4% for subjects > or = 60 years and < 60 years respectively, p < 0.05). No patient showed any adverse pharmacological effect after treatment. We conclude that acyclovir is well accepted both in young and elderly immune-competent subjects suffering from HZ, but it necessitates further efficacy investigations in sight of its broader utilization.

Acyclovir↗
PubMedDate not supplied

[A case of chloroma].

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Child, Preschool↗