The Erice 58 Charter on 'The health of migrants. An equity challenge for the public health system'.

Abstract: The Erice 58 Charter titled "The Health of Migrants: a Challenge of Equity for the Public Health System", was unanimously approved at the conclusion of the 58th Residential Course of the School of Epidemiology and Preventive Medicine 'Giuseppe D'Alessandro' entitled "The Health of Migrants: a Challenge of Equity for the Public Health System. Epidemiological, clinical-relational, regulatory, organisational, training and public communication aspects at international, national and local level', which took place from 28 March to 2 April 2022 in Erice (Sicily, Italy), at the 'Ettore Majorana' Foundation and Centre for Scientific Culture. The Course was promoted by the Italian Society of Migration Medicine (S.I.M.M.) and the Italian Society of Hygiene, Preventive Medicine and Public Health (SItI), with the collaboration and patronage of the Istituto Superiore di Sanità (ISS). 72 learners participated (mainly resident doctors in 'Hygiene and Preventive Medicine' but also other health service professionals), whose average age was 37 years; on the basis of territorial origin, 13 of the 20 Italian regions were represented. During the intense learning experience, which consisted of 18 frontal lessons (with 20 lecturers from the bio-medical, socio-anthropological and journalistic fields) and 7 working group sessions (supported by 4 classroom tutors in addition to the lecturers) in 'blended learning' mode, the various dimensions and critical issues related to the possibility of guaranteeing truly inclusive health policies for foreigners/migrants, throughout the country, were identified and discussed from an 'Health Equity' perspective. This enabled a small editorial group to draw up the basic document that, in the last session of the Course, was discussed and modified by all participants into the version of the 'Erice 58 Charter' presented here.

Dynamic Speckle Holography.

We introduce dynamic speckle holography, a new technique that combines imaging and scattering to measure three-dimensional maps of displacements as small as ten nanometers over several centimeters, greatly extending the capabilities of traditional imaging systems. We attain this sensitivity by imaging speckle patterns of light collected at three scattering angles and measuring the decay in the temporal correlation due to local motion. We use dynamic speckle holography to measure the strain field of a colloidal gel undergoing fracture and establish the surprising role of internal tension in driving the fracture.

Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy.

Tamoxifen, a widely prescribed drug for the treatment and prevention of breast cancer, is metabolized to more potent metabolites by the cytochrome P450 2D6 (CYP2D6) enzyme. Variants in the CYP2D6 gene can cause patients to be either intermediate or poor metabolizers, thereby rendering tamoxifen treatment less effective. Testing for CYP2D6 gene variants is available in Clinical Laboratory Improvement Amendments-certified clinical laboratories; however, the biological complexity of the variants makes result interpretation and phenotype prediction challenging. This article describes the clinical significance of variants as well as important analytical, interpretative, and reporting issues. It is designed to be a guideline for clinical laboratory professionals in performing tests and interpreting results with respect to CYP2D6 genetic variants.

Desmoplastic Fibroma of the Mandible: Usefulness of CT and MR Imaging in Diagnosis and Treatment. A Case Report.

Desmoplastic fibroma (DF) is a rare non-metastasizing benign neoplasm of the bone characterized by aggressive local infiltration, also known as desmoid tumour. Desmoplastic fibroma of the mandible may recur locally when incompletely excised. In particular it can occur adjacent to and display contiguous extension along the mandibular nerve. This case report describes the imaging findings of a histopathologically proven desmoplastic fibroma involving the right mandibular region in a three-year-old Italian girl. We also discuss the usefulness of different imaging modalities (CT and MRI) in DF diagnosis and treatment.

A simple and rapid genotyping assay for simultaneous detection of two ADRB2 allelic variants using fluorescence resonance energy transfer probes and melting curve analysis.

Allelic variants at codons 16 and 27 of the beta(2)-adrenergic receptor gene (ADRB2) have shown clinical and pharmacological implications in asthma, hypertension, ischemic heart failure, diabetes, obesity, and cystic fibrosis. We have developed a simultaneous genotyping assay for the c.46A>G and c.79C>G allelic variants using hybridization probes and melting curve analysis. The assay was optimized on a panel of 30 DNA samples of known ADRB2 genotype as determined by sequencing with 100% concordance between the two techniques. Melting temperature (Tm) ranges for the different genotypes were obtained using data from three independent experiments. Single peaks for p.Arg16Arg (Tm = 57.76 degrees C +/- 0.10 degrees C) and p.Gly16Gly (Tm = 66.73 degrees C +/- 0.18 degrees C) and two melting peaks for p.Arg16Gly were obtained. Similarly, single peaks for p.Gln27Gln (Tm = 53.98 degrees C +/- 0.19 degrees C) and p.Glu27Glu (Tm = 64.93 degrees C +/- 0.16 degrees C) and two peaks for p.Gln27Glu were detected. Independent operators easily assigned genotypes in a sample set of 385 asthmatic patients. Haplotype and allele frequencies were in concordance with previously published data: Arg allele frequencies in children/adults were 0.34/0.30 in Caucasians and 0.45/0.52 in African Americans, and Gln allele frequencies were 0.58/0.52 in Caucasians and 0.82/0.84 in African Americans. Thus, the ADRB2 genotyping assay represents a highly reliable and rapid technique for routine clinical use in the simultaneous detection of ADRB2 variants.

Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.

Tyrosine hydroxylase deficiency, a cause of the autosomal recessive form of L-DOPA responsive dystonia, has been associated with a broad spectrum of movement disorders and clinical courses. We describe a new patient presenting with an early onset spastic paraplegia who later developed a progressive generalized dystonic-dyskinetic syndrome. He markedly improved with a very low dosage of L-DOPA/carbidopa, while higher dosages were not tolerated. Two novel mutations (p.G414R/p.L510Q) were detected in the TH gene.

Comparison of performance characteristics of three real-time reverse transcription-PCR test systems for detection and quantification of hepatitis C virus.

We evaluated the performance characteristics of three real-time reverse transcription-PCR test systems for detection and quantification of hepatitis C virus (HCV) and performed a direct comparison of the systems on the same clinical specimens. Commercial HCV panels (genotype 1b) were used to evaluate linear range, sensitivity, and precision. The Roche COBAS TaqMan HCV test for research use only (RUO) with samples processed on the MagNA Pure LC instrument (Roche RUO-MPLC) and Abbott analyte-specific reagents (ASR) with QIAGEN sample processing (Abbott ASR-Q) showed a sensitivity of 1.0 log(10) IU/ml with a linear dynamic range of 1.0 to 7.0 log(10) IU/ml. The Roche ASR in combination with the High Pure system (Roche ASR-HP) showed a sensitivity of 1.4 log(10) IU/ml with a linear dynamic range of 2.0 to 7.0 log(10) IU/ml. All of the systems showed acceptable reproducibility, the Abbott ASR-Q being the most reproducible of the three systems. Seventy-six clinical specimens (50 with detectable levels of HCV RNA and various titers and genotypes) were tested, and results were compared to those of the COBAS Amplicor HCV Monitor v2.0. Good correlation was obtained for the Roche RUO-MPLC and Abbott ASR-Q (R(2) = 0.84 and R(2) = 0.93, respectively), with better agreement for the Abbott ASR-Q. However, correlation (R(2) = 0.79) and agreement were poor for Roche ASR-HP, with bias relative to concentration and genotype. Roche ASR-HP underestimated HCV RNA for genotypes 3 and 4 as much as 2.19 log(10) IU/ml. Our study demonstrates that Roche RUO-MPLC and Abbott ASR-Q provided acceptable results and agreed sufficiently with the COBAS Amplicor HCV Monitor v2.0.

Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.

The authors report the unusual clinical and neurophysiologic features of a sporadic case of a boy carrying an 806delG mutation on the MECP2 gene. A 28-month-old boy was examined for severe developmental delay, seizures, microcephaly, breathing dysfunction, and spontaneous and evoked myoclonic jerks of upper limbs. Neurophysiologic study proved the cortical origin of myoclonus; however, it was not associated with signs of cortical hyperexcitability. 3-Methoxy-4-hydroxy-phenylethylene glycol and valine concentrations were low in CSF.

Prostasomes as zinc ligands in human seminal plasma.

Prostasomes are small vesicles, containing zinc, secreted by prostate in human seminal plasma and showing a physiological role on sperm properties. In this study, the possible correspondence between prostasomes and a prostatic high molecular weight protein complex, recently indicated as zinc ligand, has been investigated. Isolated prostasomes, examined by scanning electron microscopy, were dialysed to evaluate their zinc binding capacity. Furthermore, seminal plasma Sephadex G-75 elution was carried out before and after prostasome removal. Prostasome preparations, containing typical vesicles of 50-500 nm, showed a positive correlation between their zinc and protein levels. They were able to take up zinc against gradient. Furthermore, the seminal zinc amount, bound to the high molecular weight proteins, was strongly reduced in the free-prostasome sample with respect to the total seminal plasma. This study suggested the correspondence between the prostasomes and a high-sized zinc ligand complex of prostatic origin. Therefore, it demonstrated, for the first time, the zinc binding capacity of prostasomes, a new property which could be related to their biological functions.

Electroclinical features in children and adolescents with epilepsy and/or migraine, and occipital epileptiform EEG abnormalities.

This study attempted to better define clinical and EEG features for differential diagnosis between epilepsy and migraine in children with occipital epileptiform EEG abnormalities. We studied 126 children (57 males, 69 females; age 4-18 years) suffering from epilepsy (63), migraine (43) or both (20). Patients were selected because of the presence of epileptiform abnormalities in the occipital regions on their EEG at rest. Differences among groups were statistically analyzed (Pearson chi square; ANOVA) for sex, age at onset of seizures and migrainous attacks, family history, ictal signs and symptoms, EEG at rest (unilateral vs bilateral distribution of epileptiform abnormalities), and EEG during Hyperventilation (HV) and Intermittent Photic Stimulation (IPS). Significant differences were found in family history, ictal signs and symptoms, EEG at rest and during activation tests. A family history of epilepsy, visual symptoms such as colored hallucinations and micro/macropsias, frequently associated with clinical signs in the visual system (eye deviation, nystagmus), unilateral EEG abnormalities, and abnormal response to IPS were closely related to diagnosis of epilepsy. On the other hand, a family history of migraine, visual symptoms such as amaurosis and scotomata, without evident clinical signs, bilateral EEG abnormalities, and no changes during IPS were significantly related to migraine. In conclusion, these clinical and EEG differences should be considered in the differential diagnosis between epilepsy and migraine in children with occipital epileptiform EEG abnormalities.

[3 cases of post-stapedectomy labyrinthine fistula]. / Su tre casi di fistola labirintica post-stapedectomia.

Three cases are presented of labyrinthine fistula which suddenly arose in patients who had undergone stapedectomy interposing a vein graft from the back of the hand. These patients had all enjoyed 12-15 years apparently problem free period before the fistula occurred. In all three cases the fistula was accompanied by objective dizziness and varying degrees of sensorineural or mixed hearing loss. The patients underwent revision surgery which identified the fistula and the endolymph oozing out of the graft from the previously installed prosthesis. The authors present the cases, describe how the symptoms arose and the results obtained with revision surgery. Finally, they discuss the need to first perform stapedotomy with a platinar hole; they indicate that the number of cases of total or partial stapedectomy should be limited only to those cases characterized by anatomical variations and/or whenever complications arise during surgery.