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Biomedical subjects

G Albertini

Publications and source records attributed to G Albertini.

At least 19 recordsLinked to original sources
PubMed2005

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC--MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.

Abnormalities, Multiple↗
PubMed2004

Spontaneous regression of keratoacanthoma can be promoted by topical treatment with imiquimod cream.

Imiquimod, the first member of a new class of immune response modifiers, is approved for the treatment of external genital and perianal warts. Recently, many clinical trials highlighted the potential of imiquimod as a treatment for other viral infections and cutaneous neoplasms. We report two cases of facial keratoacanthomas (KA) treated with topical 5% imiquimod cream. Patients were successfully cleared of KAs after treatment for 8 weeks. No recurrence occurred after a 1-year follow-up. Despite the fact that KAs are characterized by the potential for spontaneous regression, it is possible that a faster activation of CD4+ lymphocytes, via interferon release and cytokine secretion takes place after imiquimod application leading to KA regression.

Administration, Cutaneous↗
PubMed1999

Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome.

Kabuki make-up syndrome is a rare dysmorphogenic disorder characterized by peculiar facial appearance (resembling the make-up of actors in Kabuki, the traditional Japanese theatre), skeletal anomalies, dermatoglyphic abnormalities, postnatal growth deficiency, and mental retardation. Central nervous system dysfunctions, other than mental retardation, are rarely reported; they include microcephaly, brachycephaly, early hypotonia, feeding disorders, subatrophy of the optic nerves, subarachnoid cyst, cerebellar and brainstem atrophy, and epilepsy. These manifestations appear to be more common in non-Japanese patients. Reported is an Italian child with phenotypical appearance of Kabuki make-up syndrome and partial epilepsy who demonstrated polymicrogyria on neuroimaging. This article is the first report of a gyration disorder in Kabuki make-up syndrome. The relationship between epilepsy and polymicrogyria in this patient is discussed.

Abnormalities, Multiple↗
PubMed1998

Isokinetic testing of flexor and extensor muscles in athletes suffering from low back pain.

BACKGROUND: The aim of the study was to verify the usefulness of isokinetic testing in athletes with chronic low back pain (LBP) to obtain quantitative information for rehabilitation purposes. METHODS EXPERIMENTAL DESIGN: a comparative study. SETTING: Physiotherapy Department--Institute of Sports Medicine in Italy. PARTICIPANTS: 50 men, aged 25-65, practising running, cycling, triathlon, tennis, soccer, basketball, volleyball, skiing and golf. The patients were divided into two groups. Group A was treated for 3 months with postural exercises 2 or 3 times a week. Group B was treated for the same period of time with resistive exercises performed by resorting to specific machines. MEASUREMENTS: Before and after treatment, trunk muscle strength was evaluated by means of an isokinetic test carried out in a seated position. The isokinetic measurements used were peak torque (PT), work, power-in the best repetition and total work (TW) in four repetitions. Both the pain and the functional impairment during physical activity was evaluated by subjective visual analogic scale. RESULTS: The PT showed a parallel increase in flexor and extensor muscles in Group A. In Group B it increased by 32.2% at 60 degrees/s and 44.1% at 120 degrees/s as for the extensor muscles while the flexion-to-extension ratio decreased significantly. The TW registered a bigger percentage increase in both groups (+21% at 60 degrees/s and +20.4% at 120 degrees/s in Group A; +36.5% at 60 degrees/s and +50.3% at 120 degrees/s in Group B). CONCLUSIONS: The two rehabilitation programmes had the same effect on the course of LBP, but in Group B we observed a bigger increase in strength which could be potentially useful during a sports activity.

Abdominal Muscles↗
PubMed1995

Sporadic trichodental dysplasia with microcephaly and mental retardation.

Trichodental syndrome is a rare autosomal dominant ectodermal dysplasia. Hair and dental anomalies have been found in different combinations in most affected persons in three families. The features of trichodental syndrome were observed in a young female in which sparse, fine, lustreless and slow growing hairs were associated with bigeminismus of inferior lateral incisors. Ultrastructural hair analysis showed consistent variation in contour of the shaft and reduced to absent cuticular scale. Distinguishing features in this patient were microcephaly and mild mental retardation.

Child, Preschool↗
PubMed1995

Membrane fluidization by animycotic bifonazole.

Calorimetry, nuclear magnetic resonance and X-ray diffraction techniques have been used to obtain thermodynamic and structural information on dipalmitoyl phosphatidylcholine (DPPC) liposomes doped by the antimycotic drug bifonazole in the range 0 < R < 1, where R = moles of bifonazole/moles of DPPC. The technique of spin labeling electron spin resonance (ESR) has also been used to study permeability and fluidity properties. The decrease of the cooperativity at the gel to liquid crystalline phase transition, as shown by ESR an DSC measurements, indicates that bifonazole imparts higher fluidity to the lipid matrix. Increase in permeability of ascorbate ions, after incorporation of bifonazole in the membrane, has been detected by ESR experiments using spin label 5-SASL. 13C NMR spectra indicate that the drug molecule is highly immobilized. X-ray diffraction and freeze fracture TEM results show that the equilibrated phase at room temperature is lamellar and unidimensional together with the presence of small particles and pits of uniform size. A marked hysteresis is evident in the formation of this phase.

1,2-Dipalmitoylphosphatidylcholine↗
PubMed1993

Epidemiology of hepatitis B virus in non-institutionalized children and adolescents affected by handicap.

The aim of the study is to evaluate the prevalence of hepatitis B virus (HBV) markers in a population of non-institutionalized handicapped 1-19-year-old patients. Thirty-six out of 70 patients lived in southern Italy and 19 were affected by Down's syndrome. Only three (4.2%) were positive for anti-HBc (one of these also for anti-HBs) and none for HBsAg. Low prevalence seems to indicate that no particular anti-HBV vaccination strategy is to be considered on this subset of population and on their contacts. Serum prevalence of HBV among nurses and other members of personnel was 11.3%.

Adolescent↗
PubMed1992

Lipid-drug interaction: a structural analysis of pindolol effects on model membranes.

The ternary system constituted by distearoylphosphatidylcholine, pindolol (a vasodilator drug) and water has been investigated by using X-ray diffraction and calorimetric techniques. The structural modifications induced by the drug have been determined and a possible interaction model has been derived. In particular, the pindolol content-temperature dependent phase diagram shows the occurrence of two new phases: the first is an interdigitated gel, and the second is a lamellar structure presenting an unusual mixed disordered-ordered conformation of the hydrocarbon chains (L alpha beta). The comparative analysis of electron density profiles relative to the L alpha beta phase, reveals significant modifications in the paraffinic region of the lipid layer. In agreement with thermodynamic results, the structural data suggest that the drug induces a stiffening and a tightening of the hydrocarbon chains. Moreover, the hydrophilic properties of the membrane (particularly in P beta, and L alpha beta phases) present an evident dependence with the drug concentration.

Calorimetry↗
PubMed1992

Structural and functional relationships in 5'-nucleotidase from bull seminal plasma. A Fourier transform infrared study.

Fourier transform infrared spectroscopy (FTIR) was used to investigate the secondary structure of 5'-nucleotidase from bull seminal plasma (BSP). Spectra of protein in both D2O and H2O were analyzed by deconvolution and second derivative methods in order to observe the overlapping components of the amide I band. The protein, which is made up of two apparently identical subunits and which contains two zinc atoms, was studied in its native form, in the presence of dithiotreitol (DTT) and after removal of the two zinc atoms by means of nitrilotriacetic acid (NTA). Deconvolved and second derivative spectra of amide I band showed that the native protein contains mostly beta-sheet structure with a minor content of alpha-helix. The quantitative analysis of the amide I components was performed by a curve-fitting procedure which revealed 54% beta-sheet, 18% alpha-helix, 22% beta-turns and 6% unordered structure. The second derivative and deconvolved spectra of amide I band showed that no remarkable changes in the secondary structure of 5'-nucleotidase were induced by either DTT or NTA. These results were confirmed by the curve-fitting analysis where little or no changes occurred in the relative content of amide I components when the protein was treated with DTT or with NTA. Major changes, however, were observed in the thermal denaturation behavior of the protein. The native protein showed denaturation at temperatures between 70 and 75 degrees C, while the maximum of denaturation was observed between 65 and 70 degrees C and between 55 and 60 degrees C in the presence of NTA and DTT, respectively. The results obtained indicate that the two separate subunits of the protein have essentially the same secondary structure as that of the native enzyme.

5'-Nucleotidase↗
PubMed1992

Cognitive profiles in adolescents with mental retardation.

Cognitive profiles of performance were obtained from a selected group of adolescent subjects with mental retardation (MR) (n = 32; mean age: 15.4 years, S.D. = 3.7) by means of an ad hoc neuropsychological battery. On the basis of each subject's IQ, the experimental sample was divided into three homogeneous subgroups (severely, moderately and mildly retarded) and cognitive performances obtained in the battery tests were compared. Subsequently, in order to clarify the qualitative aspects of MR, the cognitive patterns of subjects with the same IQ and chronological age were examined. Altogether, from a neuropsychological point of view, the results of this study seem to support the hypothesis that MR is a heterogeneous condition of cognitive deficits (some abilities are better preserved than others) and indicate that a set of multiple tests exploring single cognitive functions is needed in order to describe cognitive profiles in MR.

Adolescent↗
PubMed1990

Interaction of the herbicide atrazine with model membranes. I: Physico-chemical studies on dipalmitoyl phosphatidylcholine liposomes.

Atrazine (2-chloro-4 ethylamino-6-(isopropylamino)-s-triazine) is one of the most widely used herbicides. Fourier transform infrared spectroscopy, differential scanning calorimetry and fluorescence polarization of 1,6-diphenyl-1,3,5-hexatriene (DPH) and of its derivative 1-(4-trimethylaminophenyl)-6-phenyl-1,3,5-hexatriene (TMA-DPH) were used to study the interaction of atrazine with dipalmitoyl phosphatidylcholine liposomes used as a model for biological membranes. The results show that atrazine does not perturb the hydrophobic core of the lipid bilayer and suggest that the herbicide localizes near the glycerol backbone of the lipid.

1,2-Dipalmitoylphosphatidylcholine↗