Congenital prosopagnosia in a child: Neuropsychological assessment, eye movement recordings and training.

Here we report the assessment and treatment of a 6-year-old boy (L.G.) who was referred to us for congenital prosopagnosia (CP). We investigated his performance using a test battery and eye movement recordings pre- and post-training. L.G. showed deficits in recognising relatives and learning new faces, and misrecognition of unfamiliar people. Eye movement recordings showed that L.G. focused on the lower part of stimuli in naming tasks based on familiar or unfamiliar incomplete or complete faces. The training focused on improving his ability to explore internal features of faces, to discriminate specific facial features of familiar and unfamiliar faces, and to provide his family with strategies to use in the future. At the end of the training programme L.G. no longer failed to recognise close and distant relatives and classmates and did not falsely recognise unknown people.

Validation of Baveno VI and Expanded-Baveno VI Criteria for predicting gastroesophageal varices in patients with alcoholic and non-alcoholic fatty liver disease.

Background and aims: Baveno VI and Expanded-Baveno VI Criteria were validated to rule out high-risk esophageal varices (HRV) and to prevent unneeded endoscopies in compensated advanced chronic liver disease (cACLD) mainly related to viral hepatitis. We aim to assess these criteria to rule out low- and high- risk varices in patients with cACLD secondary to alcoholic liver disease (ALD) and non- alcoholic fatty liver disease (NAFLD). Methods: Data were collected retrospectively from 2016 to 2020. Inclusion criteria were: NAFLD and /or ALD related cACLD, a liver stiffness measurement (LSM) ≥ 10 kPa and an esophagogastroduodenoscopy (EGD) within 12 months. Exclusion criteria were: use of non cardioselective ß-blockers, hepatic decompensation, previous variceal bleeding, portal thrombosis, liver cancer, or liver transplant. Results: One hundred and ninety-four patients were included in this study. Eighty-one patients (42%) met Baveno VI criteria and 103 (53%) met Expanded-Baveno VI criteria. Baveno VI criteria yielded a high negative predictive value (NPV ≥ 95%) for detecting HRV and varices of any size. Expanded-Baveno VI criteria yielded a high NPV ≥ 95% only for detecting HRV: the miss rate for varices of any size was 8%. Expanded-Baveno VI criteria could avoid more endoscopies than the original Baveno VI criteria to rule out HRV (53% versus 42%). Conclusion: In this study, both criteria showed high NPV to rule out HRV but only original Baveno VI criteria yielded a satisfactory high NPV to rule out varices of any size. Expanded-Baveno VI criteria could avoid more endoscopies to exclude HRV.

Evidence of taxonomy for Developmental Topographical Disorientation: Developmental Landmark Agnosia Case 1.

We report Developmental Landmark Agnosia (DLA) in a 6-year-old boy (L.G.) who was referred to us for congenital prosopagnosia (see Pizzamiglio et al., 2017 , in which both testing and rehabilitation of Congenital Prosopagnosia are reported). We investigated his performance using a neuropsychological battery and eye movement recordings. The assessment showed the presence of deficits in recognizing familiar places (along with Congenital Prosopagnosia), but not common objects. Eye movement recordings confirmed his problems in recognizing familiar landmarks and misrecognition of unfamiliar places. L.G. is the first evidence of a DLA, suggesting identification of taxonomy of navigational disorders in Developmental Topographical Disorientation is possible, as in the Acquired Topographical Disorientation.

Status, communality, and agency: implications for stereotypes of gender and other groups.

Four studies addressed the hypothesis, based on correspondence bias, that low- relative to high-status individuals are perceived as more communal and less agentic. Study 1 instantiated status in terms of occupations, and findings were as expected. The findings of Study 2 reconciled those of Study 1 and of A.H. Eagly and V.J. Steffen (1984) in that they demonstrated that high-status occupations are differentially construed in terms of their interpersonal communal demands. The hypothesis received clear support in Studies 3 and 4, in which a general instantiation of status independent of occupations, social roles, and gender was adopted. The findings are discussed in terms of gender stereotypes and social role theory of gender (A.H. Eagly, 1987) as well as in terms of other stereotypes.

Italian population data on two new short tandem repeat loci: D2S1338 and Penta E.

A population study on two new short tandem repeat (STR) loci D2S1338 (a tetranucleotide repeat) and Penta E (a pentanucleotide repeat) was performed on 208 unrelated Italian Caucasians. The DNA was amplified by polymerase chain reaction (PCR) and separation and detection of the amplified STR fragments were carried out by use of a PE/ABD PRISM 377 DNA Sequencer 377 automated system (Applied Biosystems Division/Perkin-Elmer). Both loci meet Hardy-Weinberg expectations. There is no evidence for departures from expectations between the two loci. The combined Probability of Discrimination and Probability of Exclusion for the two STR loci are 0.999155 and 0.944925, respectively. The results demonstrate that these two regions can be useful for differentiating among individuals, particularly in concert with other STR loci.

Italian population data on two new short tandem repeat loci: D6S477 and D19S433.

A population study on two new short tandem repeat (STR) loci D6S477 and D19S433 was performed on 214 unrelated Italian Caucasians. The DNA was amplified by PCR and separation and detection of the amplified STR fragments were carried out by use of a PE/ABD PRISM 377 DNA sequencer 377 automated system (Applied Biosystems Division/Perkin Elmer). Both loci meet Hardy-Weinberg expectations. There is no evidence for departures from expectations between the two loci. The combined probability of discrimination and probability of exclusion for the two STR loci are 0.997161 and 0.883183, respectively. The results demonstrate that these loci can be useful for human identification in forensic cases in Italy.

Italian population data on thirteen short tandem repeat loci: HUMTH01, D21S11, D18S51, HUMVWFA31, HUMFIBRA, D8S1179, HUMTPOX, HUMCSF1PO, D16S539, D7S820, D13S317, D5S818, D3S1358.

A population study on thirteen short tandem repeat (STR) loci was performed on 223 unrelated Italian Caucasians. The DNA was amplified by PCR. Separation and detection of the amplified STR fragments was carried out by use of 377 automated system (Applied Biosystems Division/Perkin Elmer). All loci meet Hardy-Weinberg expectations, and the data show only five departures out of seventy-eight pairwise locus tests which is close to expectations of 5% (5/78 = 6.4%). When correcting for multiple tests, there is little evidence for departures from expectations between loci. The combined Power of Exclusion for the thirteen STR loci is 0.99999270. The results demonstrate that these loci will be very useful for human identification in forensic cases in Italy.

Italian population data on the polymarker system and on the five short tandem repeat loci CSF1PO, TPOX, TH01, F13B, and vWA.

A population study on five short tandem repeat (STR) loci and five sequence specific polymorphism loci was performed on unrelated Italian Caucasians. Separation and detection of the amplified STR fragments were carried out by high resolution vertical denaturing polyacrylamide gel electrophoresis (PAGE) and silver staining, respectively. The sequence specific loci were analyzed using the AmpliType PM Typing Kit (Perkin Elmer, Foster City, CA). All loci, except Gc (p = 0.031), meet Hardy-Wienberg expectations. In addition, there is no evidence for association of alleles between pairs of loci. The combined power of discrimination for the five STR loci is 0.9999862 and for the PM loci is 0.99503. The results suggest that these loci may be useful for human identification cases in Italy.

[Quality of relations between gay couples and high-risk sexual behavior]. / Qualité relationnelle des couples gais et conduites sexuelles à risque.

This study examines the hypotheses by which quality relationships among gay couples is closely related to the adoption of low-risk sexual behaviours, in monogamous and non-monogamous situations. Data was collected from 29 homosexual couples (58 men) of the Montréal area. The survey, which graded sexual conduct as well as adjustments made within the relationship, confirmed the author's hypothesis. Indeed, the distribution of couples according to a multifactorial risk index does in fact establish a connection between the couple's happiness and the level of risk during sexual relations within and outside the couple. These conclusions are discussed in light of existing data pertaining to the link between health and the quality of a relationship among heterosexual couples.

Genetic analysis of a Sicilian population using 15 short tandem repeats.

The genetic structure of the population of Alia (Sicily, Italy) was analyzed using 15 short tandem repeats: TPOX, D2S1338, D3S1358, FIBRA, D5S818, CSF1PO, D7S820, D8S1179, TH01, VWA, D13S317, D16S539, D18S51, D19S433, and D21S11. Two of these markers, D2S1338 and D19S433, have never before been used in research on population genetics and only recently have they been put to use in forensic medicine. Results of the analysis underline the genetic isolation of the Alia population and show it to be a recent bottleneck as a consequence of a cholera epidemic in 1837. While comparing the Alia population with other populations from Sicily, a genetic heterogeneity within Sicily was uncovered, thus confirming previous results obtained from the analysis of classical markers. This heterogeneity underlines the existence of genetic boundaries within the island. Comparisons with other Italian, Mediterranean, and European populations highlight the differentiation of the Sicilian population, reflecting the presence of a genetic boundary that separates Sicily from northern and central Italy and from the western Mediterranean basin.

[Animal experimentation in radiology. Objectives, organizational and ethical problems]. / La sperimentazione animale in radiologia. Finalità, problemi organizzativi ed etici.

The contribution of biomedical sciences to the scientific breakthroughs in the last years has benefitted also by experiments on animals. As for diagnostic imaging, the use of new contrast media for angiography, CT and MRI makes it necessary, according to the law, to perform preliminary animal studies to test efficacy, pharmacokinetics and pharmacodynamics of the contrast agents. Experimental animal studies of clinically well-established contrast agents are also justified by the need to implement new imaging modalities. The close relationship between medical research and animal experimentation has awakened public opinion, as well as the researchers themselves, to the ethical and legal problems related to animal testing. This paper reports on the regulations which are currently in use in this field.

[Restorative proctocolectomy. A morphological-functional study by computed tomography with coronal scans]. / Proctocolectomia ricostruttiva. Studio morfologico-funzionale con Tomografia Computerizzata con scansioni coronali.

Restorative proctocolectomy with ileal pouch has become the surgical treatment of choice for patients with ulcerative colitis and familial polyposis of the colon. Defecography is the radiologic technique commonly used to obtain detailed information on function and morphology of the ileal pouch, but it fails to depict the pelvis. Computed Tomography (CT), with coronal images only was used to examine 10 patients with ulcerative colitis, submitted to restorative proctocolectomy. Coronal CT, yielding a panoramic view of the pelvis, represent an effective alternative technique to defecography. In fact, the two techniques provide comparable information relative to the ileal pouch; coronal CT also depicts the possible thickening of pouch walls and of pelvic fat tissue. Coronal CT also depicts the continence of ileo-anal and ileo-ileal anastomoses and the functional changes of the perineal muscles at rest and during squeezing. Coronal CT images allow easy and clear detection of such major postoperative complications as pelvic inflammation and fistulae (less frequently stenosis or dehiscences of the anastomosis).

Restorative proctocolectomy: morphological and functional study with coronal CT.

BACKGROUND: Restorative proctocolectomy with ileal pouch has become the surgical treatment of choice for patients with ulcerative colitis (UC) and familial polyposis of the colon. Defecography is the radiological technique commonly employed to obtain detailed information on function and morphology of the ileal pouch; it allows the direct visualization of the ileal pouch and the anal canal, but it does not provide the visualization of the pelvis. METHODS: In all patients, computed tomography (CT) on coronal planes was performed to determine its possibilities as an alternative to defecography; 10 patients with UC submitted to restorative proctocolectomy and were examined. RESULTS: Coronal CT images provided a panoramic vision of the pelvis and demonstrated the morphology of the ileal pouch, the thickness of its walls, and its correlation with the surrounding tissues. Coronal CT also allowed the evaluation of the continence of ileo-anal and ileo-ileal anastomosis and the functional changes of the perineal muscles at rest and during squeezing. CONCLUSION: CT images acquired on coronal planes allows an easy and clear detection of the major postoperative complications, such as stenosis or dehiscences of the anastomosis, pelvic phlogosis, and fistulae.

Analysis of monoamine oxidase A (MAO-A) promoter polymorphism in male heroin-dependent subjects: behavioural and personality correlates.

The promoter of the monoamine oxidase A (MAO-A) gene was analysed to test whether length variation of the repeat polymorphism contributes to variation in individual vulnerability to aggressive-criminal behaviour, and liability to heroin dependence. The repeat number of the MAO-A polymorphism was assessed in 199 male subjects of Italian descent, a sample comprising 95 healthy subjects and 104 heroin-dependent subjects including 52 addicted individuals with violent behaviour and antisocial personality disorder. The frequency of the low-activity 3-repeat allele was significantly higher in violent offenders among heroin addicts, compared to addicted individuals without antisocial behaviour (34.6 vs. 15.4%; p<0.03) and controls (18.9%; p<0.05). No significant difference was evidenced in the frequencies of the MAO-A alleles between heroin-dependent subjects in general and control subjects. High activity 4-repeat allele frequency was significantly higher in addicted individuals without antisocial behavior compared to antisocial-aggressive heroin-dependent subjects (76.9 vs. 55.8%; p<0.02). Buss Durkee Hostility Inventory (BDHI) mean total scores were significantly higher in heroin addicts than in controls (p<0.001), and in antisocial-violent heroin addicts in comparison with addicted individuals without antisocial behaviour (p<0.005). Among heroin addicts BDHI irritability, suspiciousness and resentment subscales scores were found significantly higher in low activity 3-repeat allele subjects than in high activity alleles subjects (p<0.001; p<0.05; p<0.05, respectively). No association was found between MAO-A polymorphism and suicide history. Our findings suggest that the low-activity 3-repeat allele of the MAO-A promoter polymorphism confers increased susceptibility to antisocial-violent behavior and aggressiveness, rather than drug dependence per se, in heroin-dependent males.

Radioguided occult lesion localisation (ROLL) and surgical biopsy in breast cancer. Technical aspects.

BACKGROUND: The surgical management of non-palpable breast lesions remains controversial. At our Institute we have introduced a new technique, radioguided occult lesion localisation (ROLL) to replace standard methods and overcome their disadvantages. In this paper technical aspects of ROLL and results on a large series of patients are reported. METHODS: We analysed 812 consecutive patients with 816 non-palpable breast lesions detected mammographically or ultrasonically. (99m)Tc-labelled particles of human serum albumin (7-10 MBq) in 0.2 ml saline were injected into the lesion under stereotactic mammographic or ultrasonic guidance. Mammography and scintigraphy were then performed. With ultrasound guidance only scintigraphic control was necessary. The excision biopsy was carried out with the aid of a hand-held gamma-detecting probe, and entire removal of the lesion was verified by X-ray of the specimen. RESULTS: The tracer was correctly positioned initially in 772/816 (94.6%) cases and at second attempt in another 2. In 42/816 (5.1%) cases, lesion localisation had to be repeated using a traditional approach. X-ray demonstrated the lesion was entirely removed in 770/774 (99.5%) cases. Pathological examination revealed 367 (47.4%) benign lesions and 407 (52.6%) cancers. The cancers were treated by conservative breast surgery in 99.5% of cases. CONCLUSIONS: We concluded that ROLL enables the surgeon to remove occult breast lesions easily and reliably.

Primary chemotherapy in operable breast cancer with favorable prognostic factors: a pilot study evaluating the efficacy of a regimen with a low subjective toxic burden containing vinorelbine, 5-fluorouracil and folinic acid (FLN).

BACKGROUND: Biological considerations support the use of primary chemotherapy in operable breast cancer; and despite wide variations of used regimens, clinical studies consistently show a significant tumor response allowing breast conservation in many patients otherwise candidates for mastectomy. We investigated the efficacy and the acceptance of a combination chemotherapy with vinorelbine, 5-fluorouracil and high-dose folinic acid in operable breast cancer with favorable prognostic factors and tested the relationship of hormone receptor status, Ki67,p53, c-erbB2 and bcl-2 with treatment response. PATIENTS AND METHODS: Thirty-nine patients (median age 51 years, range 36-71 years), eight with T1, twenty-eight with T2 and two with T3 lesions, were treated with 5-fluorouracil (350 mg/m2, i.v. on day 1 to 3) preceded by folinic acid (100 mg/m2 i.v. on day 1 to 3) and vinorelbine, given on days 1 and 3 at the dose of 20 mg/m2 (FLN regimen). Therapy was administered on an outpatient basis every three weeks. Non responders had surgery after three courses, while complete or partial responders underwent surgery after six courses. All but one were evaluable for response and toxicity. RESULTS: Objective responses were observed in 23 of the 38 evaluable patients (61%; 95% CI: 46%-76%): three complete responses (8%) and 20 partial responses (53%). Fifteen patients (39%) had stable disease, of whom nine (23%) had minor response. None of the patients had disease progression during treatment. Objective responses were significantly associated with no expression of estrogen and/or progesterone receptors and > 50% decrease in Ki67 after induction chemotherapy. Tolerance was excellent and none of the patients experienced grade 2 alopecia. CONCLUSIONS: The 'moderate' efficacy of this regimen might be partially due to the selection of patients with high expression of steroid hormone receptors and low proliferation rate, which have an unfavorable impact on response to this chemotherapy.