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Biomedical subjects

C Gagliardi

Publications and source records attributed to C Gagliardi.

At least 19 recordsLinked to original sources
PubMed2006

In vitro fertilization in the pigtailed macaque (Macaca nemestrina).

The objective of this study was to investigate the possibility of collecting oocytes and semen from pigtailed macaques (Macaca nemestrina) and to establish a protocol for the production of viable embryos that would be suitable for transfer into surrogate females. A total of 82 oocytes were collected from a total of four females (on 2 d with two females each). Semen was collected from the same male on both occasions with respective ejaculate volumes of 0.55 and 0.1 mL containing 2 x 10(9) and 6.6 x 10(8)sperm/mL. Following insemination and after 48 h in culture, 42 (51.2%) of the oocytes had cleaved. Of these, 21 were selected based on developmental stage and their morphology and cryopreserved. The remainder was kept in culture for an additional 5 d, at which time three had reached the expanded blastocyst stage. A total of five transfers were performed with frozen-thawed embryos; two of these resulted in pregnancies and the birth of infants. The results of this study demonstrated that oocytes can be retrieved from pigtailed macaques and that such oocytes can be inseminated and cultured in vitro to the blastocyst stage and give rise to viable offspring after transfer into surrogate females.

Animals↗
PubMed2003

Can epsilon-aminocaproic acid balance the off-pump bleeding advantage?

BACKGROUND: Aprotinin improved the control of bleeding in patients undergoing surgery with cardiopulmunary bypass, but its use was halted because of the risk of bovine spongiform encephalopathy. We then started to use epsilon-aminocaproic acid and the results in the control of bleeding were satisfactory. To assess its effectiveness in the control of postoperative bleeding precisely, we compared the results for patients operated on for myocardial revascularization on-pump and treated with epsilon-aminocaproic acid with those for patients who decidedly bleed less: off-pump patients. METHODS: Two groups of patients who had had either on- or off-pump double aortocoronary bypass surgery were retrospectively reviewed for postoperative bleeding. These two almost homogeneous group had two grafts only: left anterior descending and circumflex arteries operated on with cardiopulmonary bypass and treated with the epsilon-aminocaproic acid, and left anterior descending and right coronary arteries operated on off-pump. RESULTS: Postoperative bleeding through chest drainage at 4 h was 265+/-91.7 mL in the off-pump group and 328.4+/-131.4 mL in the on-pump group (p=0.004). But at 24 h it was 671.6+/-311.5 mL in the off-pump group and 827.8+/-514.4 mL in the on-pump group (p=0.07). CONCLUSIONS: epsilon-Aminocaproic acid is effective in controlling postoperative bleeding in patients operated on for myocardial revascularization with the aid of cardiopulmonary bypass.

Aged↗
PubMed2002

Language acquisition in special populations: a comparison between Down and Williams syndromes.

To investigate the relationship between language acquisition and cognition, we evaluated linguistic abilities in 12 Italian-speaking children with Williams syndrome (WS) and 12 with Down syndrome (DS) of comparable global cognitive level. Another control group included 12 typically developing (TD) children, matched for mental age. Linguistic measures included a parent questionnaire to assess vocabulary, a verbal comprehension test, a sentence repetition test and MLU calculated on spontaneous production. No dissociation was evident between lexical and cognitive abilities, but specific morphosyntactic difficulties emerged both in comprehension and production in children with DS. Individuals with WS, albeit less compromised than DS, also had difficulty in the phrase repetition task and, particularly, using content words. Our results demonstrate that the linguistic abilities of infants with WS are not above their cognitive level and that language development in these special populations is not only delayed, but follows a different developmental trajectory.

Child↗
PubMed2001

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.

The terminal 22q13.3 deletion syndrome is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. We identified a child with all the features of 22q13.3 deletion syndrome. The patient's karyotype showed a de novo balanced translocation between chromosomes 12 and 22, with the breakpoint in the 22q13.3 critical region of the 22q distal deletion syndrome [46, XY, t(12;22)(q24.1;q13.3)]. FISH investigations revealed that the translocation was reciprocal, with the chromosome 22 breakpoint within the 22q subtelomeric cosmid 106G1220 and the chromosome 12q breakpoint near STS D12S317. Using Southern blot analysis and inverse PCR, we located the chromosome 12 breakpoint in an intron of the FLJ10659 gene and located the chromosome 22 breakpoint within exon 21 of the human homologue of the ProSAP2 gene. Short homologous sequences (5-bp, CTG[C/A]C) were found at the breakpoint on both derivative chromosomes. The translocation does not lead to the loss of any portion of DNA. Northern blot analysis of human tissues, using the rat ProSAP2 cDNA, showed that full-length transcripts were found only in the cerebral cortex and the cerebellum. The FLJ10659 gene is expressed in various tissues and does not show tissue-specific isoforms. The finding that ProSAP2 is included in the critical region of the 22q deletion syndrome and that our proband displays all signs and symptoms of the syndrome suggests that ProSAP2 haploinsufficiency is the cause of the 22q13.3 deletion syndrome. ProSAP2 is a good candidate for this syndrome, because it is preferentially expressed in the cerebral cortex and the cerebellum and encodes a scaffold protein involved in the postsynaptic density of excitatory synapses.

Carrier Proteins↗
PubMed2001

Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients.

Inverted duplicated chromosome 15 (Inv dup [15]) syndrome is a genetic disorder characterized by psychologic or intellectual language delay; neurologic signs, such as hypotonia, ataxia, and epilepsy; mental retardation ranging from mild to severe; and facial dysmorphisms. All patients present with a psychopathologic impairment that is highly variable in severity but always classifiable as pervasive developmental disorder (PDD). Many genetic mechanisms have been hypothesized to explain the clinical variability. This article describes the neurologic and psychopathologic features of six Inv dup(15) patients, one male and five females, between 8 and 14 years of age, all with a maternal marker chromosome. Four patients were diagnosed with PDD not otherwise specified, whereas two patients received a diagnosis of autism. Epilepsy was present in three patients (two generalized symptomatic and one focal symptomatic), and a correlation between the severity of the disease and its outcome was not always observed. Nevertheless, the influence of gene content of the marker chromosome, particularly the three gamma-aminobutyric acid-A receptor subunit genes, may represent the link between epilepsy, mental retardation, and PDD.

Adolescent↗
PubMed2000

Mid-term results of the valve-on-valve technique for bioprosthetic failure.

OBJECTIVE: Redo operations for bioprosthesis malfunction can sometimes be technically very demanding and cardiac structures may be damaged. Excising only the leaflets of the damaged bioprosthesis and leaving the old ring in situ on which the 'new' mechanical valve is sutured can, in very selected cases, represent a solution. METHODS: Twenty-two patients were operated on, with the valve-on-valve technique, from September 1991 through December 1992. There were three operative deaths. RESULTS: The surviving 19 patients were followed-up from 83 to 98 months (mean 90.5 months.). There were two late deaths. The patients were examined clinically and with transthoracic and transesophageal echocardiograms. All patients were in good condition and the echocardiographic examinations showed no clinically important gradients across the prostheses. CONCLUSIONS: The valve-on-valve technique, in certain difficult situations, can give successful mid-term results.

Adult↗
PubMed1999

Focal cognitive impairment in mitochondrial encephalomyopathies: a neuropsychological and neuroimaging study.

Mitochondrial encephalomyopathies (ME) are a multisystemic group of diseases characterized by a wide range of biochemical and genetic mitochondrial defects with a variable mode of inheritance. We studied the neuropsychological profile, magnetic resonance imaging (MRI) and single photon emission computed tomography (SPECT) data in a group of ME patients in order to look for common or specific cognitive defects and a possible correlation with related brain areas. Three main cognitive areas were assessed: general intelligence, memory functions and visuo-perceptual skills. Our sample included 16 ME patients (nine males, seven females) aged 25-68 years (mean age 45.2, SD 13.0). No sign of mental deterioration was found in the group of elderly subjects. Despite subjects showing no global cognitive impairment they scored lower in nonverbal versus verbal tasks. Visuo-spatial skills and short-term memory were selectively impaired. There was no correlation between neuropsychological results and age, illness duration, age of onset, clinical phenotypes, genetic mitochondrial alterations and pharmacological therapy. The most frequent SPECT pattern observed was the hypoperfusion of temporal lobes, with a direct localization in the temporal cortex and with prevalent mesial involvement. The neuropsychological profile and SPECT imaging revealed similarities with focal defects.

Adult↗
PubMed1998

Bioprosthetic replacement after bioprosthesis failure: a hazardous choice?

BACKGROUND: Following bioprosthetic failure, replacement is usually done with mechanical valves to avoid repeated reoperations. METHODS: From 1986 to 1996 we operated on 130 patients with bioprosthetic failure, implanting a new bioprosthesis; this group included patients with contraindication to anticoagulation, tricuspid replacement, and specific patient requests. Mean age was 63+/-8 years. RESULTS: The perioperative mortality was 13.8%. At 10 year follow-up the actuarial estimate of survival was 77.4%+/-6.6%. Freedom from structural valve deterioration was estimated at 81.8%+/-6.3%. Freedom from a third operation was estimated at 85.5%+/-5.2%. No patient was permanently anticoagulated. Freedom from thromboembolism was estimated at 91.5%+/-4%, and there were no hemorrhages. Freedom from cardiac-related deaths was estimated at 85.7%+/-5%. CONCLUSIONS: This group of patients received the first valve between 1976 and 1986; the range of the cumulative follow-up reaches 20 years, and the extended survival compares favorably with survival of mechanical valves.

Actuarial Analysis↗
PubMed1997

Major histocompatibility complex-independent recognition of a distinctive pollen antigen, most likely a carbohydrate, by human CD8+ alpha/beta T cells.

We have isolated CD8+ alpha/beta T cells from the blood of atopic and healthy individuals which recognize a nonpeptide antigen present in an allergenic extract from Parietaria judaica pollen. This antigen appears to be a carbohydrate because it is resistant to proteinase K and alkaline digestion, is hydrophilic, and is sensitive to trifluoromethane-sulphonic and periodic acids. In addition, on a reverse-phase high performance liquid chromatography column the antigen recognized by CD8(+) T cells separates in a fraction which contains >80% hexoses (glucose and galactose) and undetectable amounts of proteins. Presentation of this putative carbohydrate antigen (PjCHOAg) to CD8+ T cell clones is dependent on live antigen presenting cells (APCs) pulsed for >1 h at 37 degrees C, suggesting that the antigen has to be internalized and possibly processed. Indeed, fixed APCs or APCs pulsed at 15 degrees C were both unable to induce T cell response. Remarkably, PjCHOAg presentation is independent of the expression of classical major histocompatibility complex (MHC) molecules or CD1. CD8+ T cells stimulated by PjCHOAg-pulsed APCs undergo a sustained [Ca2+]i increase and downregulate their T cell antigen receptors (TCRs) in an antigen dose- and time-dependent fashion, similar to T cells stimulated by conventional ligands. Analysis of TCR Vbeta transcripts shows that six independent PjCHOAg-specific T cell clones carry the Vbeta8 segment with a conserved motif in the CDR3 region, indicating a structural requirement for recognition of this antigen. Finally, after activation, the CD8+ clones from the atopic patient express CD40L and produce high levels of interleukins 4 and 5, suggesting that the clones may have undergone a Th2-like polarization in vivo. These results reveal a new class of antigens which triggers T cells in an MHC-independent way, and these antigens appear to be carbohydrates. We suggest that this type of antigen may play a role in the immune response in vivo.

Allergens↗
PubMed1993

Bioprosthesis replacement with mechanical valve implantation on the bioprosthetic ring. Surgical and 2D echo considerations.

Removal of a failing bioprosthesis can be a delicate operation and extensive damage can be caused. Eighteen patients with failing bioprostheses underwent excision of the leaflets, then the "new" mechanical valve was sewn onto the "old" bioprosthetic ring. At follow-up, clinical and 2D color-flow echo-Doppler evaluations showed good hemodynamic performance of the mechanical valves.

Adult↗
PubMed1985

The bioprosthetic valve of choice for high-risk patients: long-term results (up to 10 years).

Patients with chronic atrial fibrillation, giant left atrium, left atrial thrombi, and previous embolic accidents are usually treated with life-long anticoagulation after bioprosthetic mitral valve replacement for fear of increased thromboembolic accidents. However, we studied 306 patients in whom we implanted 381 bioprostheses between January 1976 and May 1984, with variations of anticoagulation therapy. The patients' ages ranged between 19 and 68 years, with a mean of 46.2 years. Eighty-six patients were in the New York Heart Association Functional Class II (28.1%), 149 were in Class III (48.7%), and 71 were in Class IV (23.2%). In 90% of the cases, the lesions were rheumatic in origin; the remaining cases were due to bacterial endocarditis, and congenital or ischemic lesions. By analyzing our results, we concluded that high-risk patients with bioprosthetic mitral valves can be safely and advantageously managed with postoperative, temporary anticoagulation.

Journal Article↗