Temporal evolution of quality of life in patients endoscopically treated for sinonasal malignant tumors.

BACKGROUND: The aim of our study is to assess which factors may affect the quality of life (QoL) and its fluctuation over time in adult patients who received endonasal endoscopic oncologic sinus surgery (EOSS) for sinonasal malignancies (SNM) in our center. METHODOLOGY: We analyzed EOSS cases for primary SNM from January 2015 to June 2020. For each patient, we have recorded the age at treatment, gender, smoking habits, use of psychotropic drugs for mood disorders, stage, histotype, type of surgical resection, need for skull-base reconstruction, development of postoperative major complications, and the use of adjuvant intensity-modulated radiotherapy (IMRT). We evaluated the patient's performance status pre-treatment using the ECOG scale. Quality of life was measured using three questionnaires (SNOT-22; ASK-9; EORTC QLQ-C30 version 3). RESULTS: Fifty-five patients were enrolled in our study, of whom thirty-two (58.18%) received adjuvant IMRT. Overall, a significant improvement in all QoL outcomes was observed at eighteen months, while, female sex, higher ECOG scores, advanced stage of disease, and adjuvant IMRT were associated with worse QoL. After 18 months the delta in QoL between women and men worsened (in SNOT-22 and EORTC QLQ-GLOBAL) while if only the most fragile patients according to ECOG are considered, this difference was reduced for both tools. CONCLUSION: Our analysis revealed that IMRT is the element that has the greatest impact on patient's quality of life, in association with the female sex, ECOG >2, and advanced stage of the disease.

Laboratory handling practice for faecal microbiota transplantation.

AIMS: Faecal microbiota transplantation (FMT) consists of the infusion of faeces from a healthy donor to the gastrointestinal tract of a recipient patient to treat disease associated with alterations in gut microbiota. The objective of this article was to describe laboratory workflow of an FMT laboratory to provide tips for preparing the faecal suspensions to be infused. METHODS AND RESULTS: Twenty-stool solutions obtained from ten donors were prepared using two different protocols: magnet plate emulsion (MPE) and Seward StomacherTM Emulsion (SSE). We evaluated parameters such as preparation time, handiness, and aerobic and anaerobic microbial count. For three donors, we monitored bacterial counts after defrosting at different time-points. MPE requires more time than SSE. In terms of microbial load, both methods showed similar values, with small and statistically differences (P ≤ 0·05) regarding anaerobes in favour of SSE. Frozen aliquots showed the same bacterial load values after defrosting. CONCLUSION: Although both methods allow an easy and available preparation of a stool suspension, SSE seems more suitable, particularly for stool banking. Aerobic and anaerobic species are preserved with both protocols; and safety for laboratory operators is guaranteed. SIGNIFICANCE AND IMPACT OF THE STUDY: In recent years, FMT has become a fascinating and interesting subject. Nevertheless, there are no real guidelines describing laboratory facilities and procedures. This paper aims to be a useful and simple guide to increase the number FMT centres as much possible.

Rhabdomyosarcoma: a rare laryngeal neoplastic entity.

A case of pleomorphic rhabdomyosarcoma of the larynx is presented, which is extremely rare in a laryngeal site. The symptomatology and macroscopic aspect of the neoplasm can simulate the presence of other neoplastic variants of the larynx, and, for this reason, histological examination must be associated with immunohistochemistry for correct diagnosis and treatment.

Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: II. Neuropsychological and behavioral data.

We describe the neuropsychological and behavioral profiles of 48 critical members of a previously reported Sardinian pedigree [Filippi et al., 1991], in which the fully manifested Martin-Bell syndrome (MBS), observed among males of the latest generations, is clearly the result of step-wise mutational events occurred repeatedly along the X-chromosome pathway linking all of them to a common ancestress, who must have been heterozygous for a fragile X (FRAX) premutation. We found that the unquestionable presence in the family of normal transmitting males and females could not be determined on the basis of neuropsychological and behavioral data alone. However, we think that the large variation observed in the expression of most diagnostic parameters among the MBS patients and their close female relatives in this family, could by itself be a connotation of the genome instability which characterizes the FRAX region in pedigrees segregating for the FRAX premutation(s) and mutation(s).

X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter.

Two brothers are reported who share mental retardation, conjunctival teleangectasias (mainly equatorial) and characteristic flat face with small mouth and thin prolabia. At the neuropsychological examination, the older brother at 14 years showed a full scale IQ of 40 (WISC), with verbal IQ 45 and performance IQ 44. The younger brother at 7 years showed a full scale IQ of 58 (WPPSI), with verbal IQ 67 and performance IQ 55. Chromosome studies showed a duplication Xp22-Xpter in both brothers and in the inactivated X of their mother. The anomaly was not present in a 3rd healthy brother and in other healthy relatives. The mother has normal intelligence and did not present any of the physical features of her affected sons.

Neuropsychological studies in families with fragile-X negative X-linked mental retardation.

Neuropsychological studies were performed in 82 subjects of 12 families with x-linked, fragile X negative, mental retardation (MR). Subjects were examined with Wechsler tests (WPPSI, WISC-R or WAIS, according to their capabilities), Progressive Matrices, Bender or Santucci and memory tests. Physical findings in 5 families were characterised by micro-orchidism (MiO), microcephaly (MiC), short stature (SS) and non-specific facial features (XMR +/- MiO +/- MiC +/- SS). The 11 males with MR had a very low IQ, ranging from 13 to 37 (mean 21.2 +/- 8.8); this did not constitute a profile definition. Among the females of their families, 4 had subnormal or borderline IQ, respectively 74, 66, 38 and 37. A second group (2 families) had MiO but with normal stature and occipito-frontal circumference (XMR +/- MiO). The 7 males with MR had an IQ ranging from 24 to 43 (mean 35.1 +/- 5.8) and showed frequently better results in performance than in verbal subtests. In these 2 families, 5 females had subnormal or borderline IQ, respectively 77, 72, 71, 70 and 20. In the 5 families of the third group, XMR +/- MaO (fraX-), several affected males had macro-orchidism (MaO) and facial changes similar to those of fragile X syndrome. IQ variability, also in the same family (e.g.: the 3 brothers of family 3 had, respectively, an IQ of 26, 28 and 68; and 2 brothers of family 1 had an IQ of 13 and 63) and different profiles. Two females were severely affected (IQ 16 and 24), while another 4 had an IQ, respectively, of 63, 69, 71 and 72.

[Antenatal surveillance and risks of prematurity and fetal growth retardation]. / Surveillance anténatale et risques de prématurité et d'hypotrophie foetale.

The essential aim of this work was to investigate the relationship between antenatal care and preterm delivery or low birth weight. This study has been done by means of a case-control survey carried out among 435 women who delivered in 4 Maternity Hospitals in Aix-en-Provence-Pertuis area, between November 20th, 1987 and September 30th, 1988. Cases consisted of 124 women having delivered single livebirths before 37 weeks' gestation and 69 women having delivered, at term, single livebirths weighting less than 2,500 g. Controls were 242 women who delivered normal single livebirths. Results showed that, within the geographic area of the study, low birth weight and preterm delivery rates were respectively 6% and 5.4%. Antenatal care was generally according to medical profession recommendations: average number of visits: 7.9; first visit achieved, for 98.8% of women, within first trimester; intervention of a specialist in 97.1% of pregnancies; average number of ultrasound examinations: 3.5. Only mothers of low birthweight infants had more often an inadequate antenatal care (OR = 2.63, 95% confidence interval: 1.22-5.70). The risk factors for low birth weight were: previous history of preterm and/or low birth weight delivery, single marital status, low lever father's education, smoking during pregnancy, no contact with maternity team and for preterm delivery: previous history of preterm and/or low birth weight delivery, complications during the penultimate pregnancy, hypertension, metrorragies. These results suggest that it seems unlikely, in the future, to decrease unfavorable pregnancy outcomes by increasing antenatal care.

Neuropsychological, psychiatric, and physical manifestations in 149 members from 18 fragile X families.

One hundred forty-nine subjects from 18 families with fragile X [fra(X)] syndrome were evaluated for their neuropsychological, psychiatric, and physical characteristics. The 36 fra(X) males had intelligence quotients ranging from less than 20 to 61, which prevented the delineation of a reliable neuropsychological profile. Behaviour fitted DSM-III-R and ADI diagnostic criteria of autism in only 2 subjects, both with very low intelligence level (IQ less than 20). Of 36 heterozygotes (HZ), 22 had an IQ between 20 and 80 and 14 between 81 and 99. The neuropsychological profile of the latter was compared with IQ-age-environment-matched 14 normal females and 14 normal males. Significantly poorer results in HZ were found on immediate digit memory and on Raven's progressive matrices (a visuo-spatial test of logical capabilities). The latter result, in conjunction with those results on the Bender visual-motor gestalt test and on some WAIS subtests, suggests a frequent deficit in spatial capabilities in such subjects. Such results tended to be confirmed by the profiles of the 22 HZ with IQ 20-80. No psychiatric abnormalities were found in HZ, except in one subject with IQ less than 20 which fitted DSM-III-R and ADI criteria for autism. Typical physical manifestations, especially cranio-facial, were more frequently present in the HZ group with lower IQ. Subnormal IQ was probably the most reliable abnormality for the detection of HZ in 49 females at 50% and 25% risk of heterozygosity.

Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.

The still debated question of whether the expression of mental retardation in heterozygous carriers of the Martin-Bell syndrome is influenced by X inactivation has been investigated in a group of phase-known double heterozygotes for the FRA-X mutant and the G6PD Mediterranean variant. In these individuals, the number of somatic cells (fibroblasts or red cells) with an active FRA-X chromosome could be assessed through the G6PD phenotype at the single-cell level. The data reported indicate a significant inverse correlation between the IQ level (as measured by the Wechsler-Bellevue test) and the percentage of fibroblast cells with an FRA-X active chromosome. In contrast, no significant correlation was found when the IQ level and red cell data were compared, thus suggesting the occurrence of somatic selection against hematopoietic stem cells with an active FRA-X chromosome.

[Evaluation of the effects of a support campaign on exclusive breast feeding at 1 month]. / Evaluation des effets d'une campagne de soutien à l'allaitement exclusif au sein à un mois.

The aim of this study was to evaluate the effects of a support campaign on exclusive breast-feeding at one month postpartum among women having chosen breast-feeding. The study population consisted of all women (n = 657) having delivered in the Maternity Hospital in Pertuis (Area of Vaucluse-France) between January 1, 1987 and December 31, 1988. The first 151 women belonged to the control group not submitted to interventions while the following 506 composed the groups submitted to interventions. Interventions mainly aimed at providing information to women, supporting them after delivery, raising the awareness of their environment and educating Health professionals. Mothers were interviewed at the maternity and at their home one month later. Results showed that interventions significantly increased the number of women breast-feeding at one month (66% vs 52%-p less than 0.01) and reduced physical and medical problems related to breast-feeding (51% vs 60%-NS). To resolve these problems, Health professional education particularly appeared efficacious. The mothers' planned duration of breast-feeding was not significantly changed showing that actions were well conducted, as we wished, in the sense that the choice of mothers was respected. The greatest benefit was seen among the lowest social class (p less than 0.05), the less educated (p less than 0.01), and Maghrebin women (p less than 0.01).