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Biomedical subjects

G Coppola

Publications and source records attributed to G Coppola.

At least 37 records · Page 2Linked to original sources
PubMed2004

Venous thromboembolism in pregnancy. A case report of deep venous thrombosis (DVT) in puerperium.

The authors describe a case of DVT during pregnancy in a 41-year-old woman who had a normal haemocoagulative picture during pregnancy and in puerperium (PT, PTT, S protein, C protein, ATIII, xdp and fibrinogenous). All the haemocoagulative dosages were within the norm and compatible with the gestation period. Both homocysteine and antiphospholipid antibodies (mostly in puerperium) were always within normal limits. The authors believe that DVT occurs infrequently but it is also unforeseeable. Systematic heparin prophylaxis for seven to ten days, ante- and postpartum, can prevent this problem.

Adult↗
PubMed2003

Intergenerational instability and marked anticipation in SCA-17.

The authors describe an Italian family with autosomal dominant ataxia, dementia, psychiatric and extrapyramidal features, epilepsy, mild sensorimotor axonal neuropathy, and MRI findings of cerebral and cerebellar atrophy. A child had a distinctive presentation with onset at 3 years, growth retardation, fast progression, and early death. Molecular analysis demonstrated an expanded CAG/CAA repeat in the TBP gene (SCA-17). The repeat size was 66 triplets in the child and 53 in all the other patients.

Adolescent↗
PubMed2003

A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.

Patients with benign familial neonatal convulsions (BFNC) may develop various epilepsies or epilepsy-associated EEG traits. A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene encoding for K+ channel subunits was found in a patient with BFNC who showed centrotemporal spikes at age 3 years. Electrophysiologic studies showed that mutant K+ channel subunits failed to give rise to functional homomeric channels or exert dominant-negative effects when expressed with KCNQ2/KCNQ3 subunits.

Action Potentials↗
PubMed2003

[Muscle weakness].

A 31-year old cook suffered from episodes with muscular weakness since 3 weeks. These episodes resolved, at times, spontaneously and completely after a few hours. The weakness affected mainly the muscles of trunk and proximal extremities. Investigation of the patient revealed flaccid tetraparesis with diminished tendon reflexes, however, cranial muscles were not affected. Mental function and sensibility were intact. These findings were consistent with hypopotassemic periodic paralysis rather than a neurological or psychiatric disease. Serum potassium was determined as 1.8 mmol/l. Moreover, the patient suffered from atrial fibrillation. Grave's disease could be identified as the underlying cause of hypopotasemic periodic paralysis and atrial fibrillation. Further manifestations of primary hyperthyroidism were nervousness, diarrhea and weight loss of 5 kg observed during the previous months. The symptoms resolved under treatment with potassium, betablocker and thyrostatic agents. The patient was treated with warfarin because of atrial fibrillation and finally underwent electroconversion.

Adrenergic beta-Antagonists↗
PubMed2003

Progressive supranuclear palsy: analysis of six cases.

We analyzed six cases of progressive supranuclear palsy (PSP) from 1 January 1998 to 31 June 2002. All patients underwent a complete range of laboratory tests, head computed tomographic (CT) scan or magnetic resonance imaging (MRI); three were evaluated by formal neuropsychological examination. All were taking L-dopa or dopamine agonists. At the onset of PSP the initial diagnosis was almost always Parkinson's disease. The head CT scan or MRI findings were non-specific, while neuropsychological testing disclosed cognitive impairment, with predominant subcortical-frontal involvement. We emphasize the still obvious current difficulty in diagnosing PSP at an early stage in clinical practice. Therefore it is essential to formulate better clinical diagnostic criteria, to permit correct management of the disease.

Aged↗
PubMed2003

Chromosomal abnormalities in Day-6, in vitro-produced pig embryos.

A cytogenetic study was undertaken to quantify, by chromosomal karyotyping, the incidence and type of chromosomal abnormalities present in Day-6 in vitro-produced (IVP) porcine embryos. Morphologically normal Day-6 blastocysts (n=318) were fixed and grouped into six classes according to the number of total cells (from < or =20 to 61-70). Of 248 embryos suitable for analysis, 97 (39.1%) displayed chromosomal abnormalities. The abnormalities included haploidy (9.3%), polyploidy (71.1%) and mixoploidy (19.6%). Within polyploid embryos, triploidy and tetraploidy showed the highest incidence (56.5 and 27.5%, respectively); among mixoploid embryos, diploid-triploid embryos (2n/3n) were prevalent (36.8%). Overall, the mean cell number was 34.3 +/- 12.1 and the mitotic index was 8.6 +/- 6.1. Chromosomally abnormal embryos had fewer (P<0.01) total cells compared to normal (2n) embryos (31.8 +/- 1.3 versus 35.9 +/- 1.0). In addition, the incidence of polyploidy decreased as the number of cells increased, while that of mixoploidy did not differ. These data indicate that polyploidy affects a large percentage of IVP porcine embryos capable of developing to blastocysts and the incidence of chromosomal abnormalities is much higher than that reported previously in in vivo embryos in this species. Given the ability of morphologically normal embryos with an abnormal chromosome complement to undergo preimplantation development in vitro, and the inability to identify blastocysts with abnormal karyotype without cytogenetic analysis, careful consideration should be given to factors affecting ploidy of IVP embryos, especially the incidence of polyspermic fertilization, when evaluating criteria of a porcine in vitro embryo production scheme.

Animals↗
PubMed2003

Malignant vulvar melanoma: colposcopic evaluation and review of the literature. A case report.

Because of the rarity of this kind of vulvar neoplasia, the diagnostic difficulties (clinical and histopathological) conditioning the therapeutic approach and the missing iconographical material, we report a case of vulvar melanoma seen at the Department of Obstetrics and Gynecology of the University of L'Aquila in April 2001, together with a review of the literature. Owing to radical vulvectomy and bilateral inguinal lymphadenectomy with the Byron three-incision approach the histological report was: epithelioid cell apigmented melanoma radially spreading (MMSS), a tumor-free margin of at least 1.7 cm with sufficient lympholitic infiltration.

Aged↗
PubMed2002

Onset and sequence of RBA-band replication on the inactive X-chromosomes of cattle (Bos taurus L.), river buffalo (Bubalus bubalis L.) and goat (Capra hircus L.).

This study was undertaken to provide cytogenetic information about onset and sequence of RBA-band replication on the inactive X-chromosomes of cattle, river buffalo and goat. Blood cultures were synchronized overnight with thymidine after 48 hours of growth. The cell block was released with fresh medium and the cells allowed to grow in the presence of BrdU and H33258 for 1, 2, 4, 6, 8, 10, 12 and 14 hours, including 20 minutes colcemide. Results show that: (a) the onset of RBA-banding replication was 12 hours before mitosis in cattle and river buffalo, 14 hours in the goat; (b) the replication process was still 'on' in cattle and river buffalo one hour before mitosis, whereas it was 'off' in the goat; consequently the length of the G2 phase was less than one hour in cattle and river buffalo and one hour or slightly longer in the goat; (c) the first band undergoing replication was identified as band Xq31 in cattle, homologous to band Xq34-36 in river buffalo and Xq24 in the goat; (d) the second replicating band was the Xp22 in cattle, homologous to band Xq21 in river buffalo and Xq34 in the goat, respectively; (e) the sequence of RBA-band replication was quite similar between cattle and river buffalo, but reversed in the goat, due to the wide chromosomal rearrangements which differentiated the X-chromosome of Caprinae from that of Bovinae.

Animals↗
PubMed2002

Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases.

We describe 3 children (2 siblings aged 10 and 3 years, and 1 sporadic case aged 13 years) with cerebellar vermis defect associated with oligophrenia, congenital ataxia, and hepatic fibrocirrhosis. Differently from what is reported in COACH syndrome, coloboma and renal involvement were absent. Since in one patient hepatic involvement was subclinical and early therapy seemed to prevent disease progression, the presence of liver disease should be carefully investigated in any patient with ataxia and midline cerebellar defects.

Adolescent↗
PubMed2002

Genital tuberculosis in a menopausal woman. A case report.

We have analysed the role played by genital tuberculosis (TBC) in Italy today, and in particular in L'Aquila, in the light of a worrying recrudescence. We report the case of a 64-year-old patient, in menopause for the past 11 years or so, referred to the Gynecology and Obstetrics Clinic of the University of L'Aquila, with an anamnesis of menometrorrhagia since the age of 55. The patient was studied from a gynecological and internist profile including the following procedures: gynecological examination and pap-test, colposcopy, transvaginal scan, chest X-ray, abdominal and pelvic CAT, laboratory tests and Mantoux reaction. The uterus was found to be fibromatous during the gynecological examination and scan, whereas colposcopy revealed a small ectropion and the presence of very adherent yellowish mucus. The Mantoux test was positive. CAT showed cicatricial sequelae in the pulmonary parenchyma. It was decided to perform curettage, but this was prevented by the presence of pyometra. The patient was treated with specific chemotherapy and then underwent total laparohysterectomy with bilateral adnexectomy. The histological findings confirmed genital TBC. Genital TBC is now undergoing a worrying recrudescence. We need to have a full knowledge of the pathology, the diagnostic means with which to discover it and the correct therapeutic instruments to overcome it.

Age Factors↗
PubMed2002

Carotid atherosclerosis and ischemic stroke in young patients.

BACKGROUND: Epidemiological studies indicate a high prevalence of carotid atherosclerosis in elderly patients with ischemic stroke. The aim of this study was to investigate the presence of early carotid atherosclerotic lesions in young subjects with ischemic stroke, in the absence of the common atherosclerotic risk factors. METHODS: We studied 98 young patients with first ischemic stroke (54 males and 44 females; mean age 41.2 years; range 32-50) and 96 healthy controls. All subjects underwent ultrasonographic scanning of the carotid arteries according to a standardized protocol. RESULTS: The carotid intima-media thickness was significantly increased in the patient group (p<0.001) compared with controls. In addition, the prevalence of carotid atherosclerotic plaques was greater in the patients than in the controls (p<0.001). In particular, we detected 18 non-occlusive carotid plaques and 16 thrombotic occlusions. In 8 patients, the lesions were bilateral. The echographic pattern of the plaques was hard in 8 cases, soft in 5 cases, and mixed in the remaining 5 cases. CONCLUSIONS: We detected an increased wall thickness of the carotid arteries and an increased prevalence of carotid atherosclerotic lesions and carotid thrombotic occlusions in young patients with ischemic stroke, with a relative low incidence of cardiovascular risk factors. This finding suggests that arterial intima-media thickness per se is an important determinant of vascular disease in young patients. The data also provide indirect support for the potential role of genetic factors in the genesis of atherosclerosis in young patients.

Adult↗
PubMed2001

HLA-DRB1*1501 and response to copolymer-1 therapy in relapsing-remitting multiple sclerosis.

BACKGROUND: Copolymer 1 (Cop-1) is a random synthetic amino acid copolymer, effective in the treatment of the relapsing-remitting form of MS (RRMS). In vitro and in vivo studies suggest that the mechanism of Cop-1 involves its binding to major histocompatibility complex class II molecules as an initial step. OBJECTIVE: To assess a possible relationship between human leukocyte antigen (HLA) alleles and response to Cop-1 therapy. METHODS: Eighty-three patients with RRMS, 44 treated with Cop-1 and 39 with interferon beta-1a (IFNbeta-1a) for 2 years, were typed by molecular methods for HLA class II genes and subgrouped according to clinical outcome. RESULTS: Data have shown a possible positive correlation between presence of DRB1*1501 and response to Cop-1 therapy (p = 0.008). No relationship between HLA alleles and therapy has been found in IFNbeta-1a treated patients. CONCLUSIONS: Results suggest that DRB1*1501 might be relevant for the clinical outcome in Cop-1 treated patients and, if confirmed in larger studies, it could be helpful in the selection of RRMS patients for different therapeutic options.

Adult↗
PubMed2001

Benign idiopathic partial seizures in the velocardiofacial syndrome: report of two cases.

We describe two children with the velocardiofacial syndrome and benign partial-onset seizures. Both presented with slight dysmorphic traits, mild to moderate mental delay, and high-arched palate. A cardiac defect was present in only one of them. In each patient, sporadic rolandic or occipital partial-onset seizures with the clinical and electroencephalographic features of benign idiopathic childhood epilepsy manifested at age 3 and 5 years, respectively. Treatment was started only in one patient, with complete seizure control. These two cases show that benign partial epilepsy can be a component manifestation of the central nervous system-related symptoms of the velocardiofacial syndrome.

Abnormalities, Multiple↗
PubMed2001

CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in a melanoma/neurofibroma kindred.

The CDKN2A locus encodes two tumor suppressor proteins, p16(ink4) and p14(arf), through use of alternative first exons. CDKN2A mutations detected in melanoma families are usually missense or nonsense changes which mainly impair p16(ink4) function. Large genomic deletions spanning the entire locus have been observed in two pedigrees with melanomas and nervous tumors. We have detected a novel splice site mutation in a family with melanomas, neurofibromas, and multiple dysplastic nevi. Both alternative mRNAs produced by the mutant allele lacked shared sequences from exon 2, which encodes a substantial portion (>50%) of both p16(ink4) and p14(arf) proteins. The development of neurofibromas can be explained by cooperative effects of combined inactivation of p16(ink4) and p14(arf) or, alternatively, of p14(arf) alone.

Adolescent↗