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Biomedical subjects

F Cardona

Publications and source records attributed to F Cardona.

At least 37 records · Page 2Linked to original sources

Total synthesis of (-)-rosmarinecine by intramolecular cycloaddition of (S)-malic acid derived pyrroline N-oxide.

[reaction in text] Straightforward total syntheses of (-)-rosmarinecine have been achieved from L-malic acid derived pyrroline N-oxides by two novel useful cascade processes, which join the family of domino reactions. Both strategies, which furnished the target alkaloid in enantioenriched and enantiopure forms, respectively, allow complete control of configuration at all the three newly created contiguous stereogenic centers.

Alkaloids↗

Group A streptococcal infections and tic disorders in an Italian pediatric population.

BACKGROUND: The relationship between childhood tic disorders and group A streptococcal (GAS) infections has been recently investigated by several research groups, but no systematic evaluation of laboratory indicators of GAS infections has been provided. OBJECTIVE: The aim of our study was to seek clinical and laboratory evidence of GAS infections in a large population of children affected with tic disorders. STUDY DESIGN: This investigation was a case-control study: 150 consecutive children presenting with tics were investigated for clinical and laboratory signs of streptococcal infections on the occasion of their first neuropsychiatric consultation. To compare the rate of exposition to GAS in a similar population, a control group of 150 children without tic disorders was examined during the same period. RESULTS: In children with tics, mean antistreptolysin O (ASO) titer (434 +/- 338 IU) was significantly higher compared with that of control subjects (155 +/- 126 IU); 38% of the children with tics compared with 2% of the control subjects (P <.001) had ASO titers > or =500 IU. Twenty-six children with tics (17%) had throat cultures positive for GAS, but in all cases, only few colonies per plate were isolated. Among the strains isolated, no prevalent T pattern or M type was observed. In children with tics a positive correlation between ASO titers and severity of tic disorder (measured by the Yale Global Tic Severity Scale) was found. CONCLUSION: Our results suggest that children with tic disorder could be a unique population in which GAS infection, or at least the exposure to streptococcal antigens, is correlated to the neurobehavioral disorder. Moreover, our data indicate a relationship between the severity of tic disorder and the magnitude of the serologic response to GAS antigens.

Antistreptolysin↗

Neuronal ceroid lipofuscinoses: a review.

Neuronal ceroid lipofuscinoses (NCLs) are among the most common neurodegenerative diseases in childhood but rarely present in adulthood. The main symptoms are psychomotor deterioration, visual failure, epilepsy and motor disturbances. The NCLs are morphologically characterized by the accumulation of lipopigments within numerous cell types and loss of neurons. Pathogenesis is unknown. The current clinical classification recognizes six classic types of NCL and several atypical forms. Electrophysiological and neuroradiological findings may be of diagnostic significance, but disease recognition rests on the demonstration of a typical ultrastructural pattern. Genetic studies have demonstrated that several different genetic loci are involved in the pathogenesis of NCL, but the molecular mechanisms underlying neuronal death and lipopigment accumulation are not understood.

Humans↗

Preliminary investigation of the association of oral lichen planus and hepatitis C.

OBJECTIVE: The aim of this investigation was to determine if an association exists between hepatitis C virus and oral lichen planus. STUDY DESIGN: Three groups of subjects were selected: 505 patients with hepatitis C virus infection (group 1), 100 patients with oral lichen planus (group 2), and a randomly selected control group (age- and gender-matched) of 100 healthy subjects (group 3). The prevalence of oral lichen planus was determined in groups 1 and 3, and the prevalence of hepatitis C virus infection was established in groups 2 and 3. RESULTS: The prevalence of oral lichen planus was 3.36% (n = 17) in group 1 and 1% (n = 1) in the control group; the prevalence of hepatitis C virus infection was 23% (n = 23) in group 2, and 5% (n = 5) in the control group. No significant differences were observed in the incidence of oral lichen planus in group 1 between those patients who received interferon and those who did not. The 17 patients in group 1 who manifested oral lichen planus and hepatitis C virus infection simultaneously exhibited a marked tendency to have only reticular lesions (70.6%), with involvement of the buccal mucosa in 88.2% of these patients, the tongue in 29.4%, and the gingiva in 11.8%. Analyzing a randomized subgroup of 143 patients from group 1 (subgroup 1) that was matched by age and gender with groups 2 and 3, we found that the incidence of oral lichen planus in patients with hepatitis C virus infection (subgroup 1) was greater than in the control group (5.59% vs 1%), though this was not statistically significant (chi2 = 0.119; p = 0.06). In contrast, group 2 exhibited a statistically significant higher incidence of hepatitis C virus infection (23%) than the controls (5%; chi2 = 0.259, p = 0.0002). CONCLUSIONS: The prevalence of hepatitis C virus infection in patients with oral lichen planus was greater than in the control series. In our opinion this observation warrants the investigation of potential concomitant hepatitis C virus infection in patients with oral lichen planus.

Candidiasis, Oral↗

Low mitochondrial glycerophosphate dehydrogenase activity in lymphocytes of women with gestational diabetes.

An abnormally low activity of mitochondrial FAD-linked glycerophosphate dehydrogenase (m-GDH), relative to the paired measurement of glutamate dehydrogenase, was found in CD3+ lymphocytes from 4 out of 14 mothers with gestational diabetes mellitus, but in none of 36 control mothers. The low m-GDH activity coincided with an abnormally high incidence of familial history for non-insulin-dependent diabetes. These findings are compatible with the view that an inherited or acquired defect of m-GDH may participate to the pathogenesis of beta-cell dysfunction in a subgroup of patients with gestational diabetes.

Adult↗

Mapping of 22 new ESTs around a tumor suppressor gene and a senescence gene at 6q16-->q21.

Twenty two expressed sequence tags (ESTs) have been mapped at the border of 6q16-->q21 and at the proximal end of 6q21, a candidate for two tumor suppressor genes and a senescence gene. Use of a translocation and deletion hybrid panel together with a 4-Mb YAC contig allowed us to precisely define the position of the ESTs. Thirteen ESTs were placed within the 4-Mb interval at the proximal portion of 6q21 using a restriction map of the YAC contig, seven ESTs span a 2-Mb region on the 6q16-->q21 border, and two are distal to the contig. Refinement of the localization of these ESTs will provide substantial assistance in identifying new genes within the region 6q16-->q21.

Aging↗

Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study.

To establish the incidence of neuronal ceroid-lipofuscinoses (NCL) in Italy, we sent a questionnaire to all Neuropediatric and Child Neuropsychiatric Departments (answer rate 15/34 = 44%). Diagnoses were accepted only when based on firm clinical and/or electron microscopic criteria. We collected 58 cases born between 1966-1991 (2 infantile NCL, 37 late infantile NCL, and 19 juvenile NCL). The incidence was calculated only on patients born between 1974-1984. In this period, the incidence of overall NCL in the Italian population was calculated to be 0.56 per 100,000 live births (0.36 for late infantile NCL, and 0.20 for juvenile NCL). Our data show that infantile NCL is very rare in Italy, and that late infantile seems to be the most frequent form of NCL.

Adolescent↗

Oral lichen planus and chronic liver disease: a clinical and morphometric study of the oral lesions in relation to transaminase elevation.

Serum transaminase levels (serum glutamic-oxaloacetic transaminase or serum glutamic-pyruvic transaminase) were found to be altered in 40 (21.39%) of 187 patients with oral lichen planus. The patients with oral lichen planus who had altered transaminase levels were on average older than those without liver disorders and exhibited a higher percentage of erosive lesions (p < 0.05) and tongue involvement. Histologically, no statistically significant differences were noted in the extension of inflammatory infiltration or in connective tissue density; nevertheless, the latter was greater in patients without altered transaminase levels. Finally, among those patients with altered liver test results and erosive lichen planus, serum glutamic-oxaloacetic transaminase and serum glutamic-pyruvic transaminase levels were found to be higher than levels in those patients without erosions. This indicates that behavior of the oral lesions is more aggressive as the degree of liver alteration increases. We emphasize that of the 40 patients with altered transaminase levels (all later proved to reflect chronic hepatitis through complementary diagnostic methods), 28 had hepatitis C virus infection.

Alanine Transaminase↗

Visual, auditory, and somatosensorial evoked potentials in early and late treated adolescents with phenylketonuria.

Pattern reversal visual, auditory, and somatosensorial evoked potentials were recorded in two groups of phenylketonuric (PKU) adolescents after protracted exposition to high concentrations of phenylalanine following diet discontinuation. The first group consisted of 11 early treated (before age 3 months) PKU patients (ET-PKU); the second group consisted of 11 late detected (after age 8 months), symptomatic, PKU subjects (LT-PKU). Despite the relevant lag between the two groups in mental development and neurological status, no clear-cut difference in evoked potentials could be detected. Only the wave I latency of the brainstem auditory evoked potentials (BAEPs) was significantly shorter in ET- versus LT-PKU children. The P100 latency, I-V interpeak latency (IPL), and I-III IPL seem to discriminate the less severe form of PKU (ET-PKU type 3) from the most severe forms, ET-PKU type 1 plus 2 and LT-PKU. No correlations were found between clinical, biochemical, and neurophysiological parameters. The present data suggest that evoked potentials technique is of limited sensitivity in detecting central nervous system (CNS) alterations in PKU adolescents after diet discontinuation.

Adolescent↗

Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients.

The clinical diagnosis of ataxia-telangiectasia (AT) is difficult before the age of 4 years. We report clinical and cytogenetic data on three early-onset, early-diagnosed AT patients at the age of 12, 18 and 22 months, respectively. Postural instability of the trunk, characterized by motor impersistence, was the earliest neurological sign detected as early as 1 year of life. Dystonic movements and postures of arms and trunk and a subtle disorder of eye movement (blinking before gaze changing, increased latency and dysmetry of saccades) were observed during the 2nd year of life. All patients exhibited an unusual temper tantrum. We also observed an increased bleomycin-induced chromosomal instability in patient's cells in the early stages of the disease before all the clinical hallmarks were apparent. Our data suggest that detection of clinical indications, leading to early laboratory confirmation of AT, can reduce the age at diagnosis.

Adolescent↗

Late infantile ceroid-lipofuscinoses. An ultrastructural study.

The aim of the present study is to investigate further the ultrastructural skin patterns in five cases of late infantile ceroid-lipofuscinosis: two of these were classic forms, the others were variants. Ultrastructural examinations of skin biopsies revealed the presence of characteristic cytosomes; typical lipofuscin, consisting of osmiophilic granular materials, curvilinear bodies, and fingerprint bodies. Different ultrastructural profiles were found simultaneously in each case, without a significant prevalence of any specific one, and were often associated with lipid droplets. These inclusions were found in several epidermal and dermal cells. A different degree of involvement of the myelinated sheaths in the five cases was observed. This difference could be genetically determined or perhaps related to different stages of the disease. The findings demonstrate the involvement of clinically unaffected skin and confirm the relevance of electron microscopic studies in diagnosing these disorders. In fact, recognition of typical ultrastructural changes is a valuable diagnostic tool that can be used in supplementing clinical and electrophysiological examinations, especially when the metabolic error is unknown and no diagnostic biochemical assay is available.

Child↗