Urgent Psychiatric Consultations at Mental Health Center during COVID-19 Pandemic: Retrospective Observational Study.

The coronavirus pandemic and related social distancing measures have brought about dramatic changes in people's lives. In particular, health workers have been forced to change their activities both for the different needs of patients and for preventive measures against the spread of the virus. This study is aimed at comparing the urgent psychiatric consultations (UPC) performed at the outpatient Mental Health Center (MHC) of Modena during the coronavirus outbreak period, from 1 March to 31 August 2020, with the same period in 2019. We retrospectively collected in a database the demographic and clinical characteristics of patients who required UPC in the MHC during the 6-month observation periods in both 2019 and 2020. Data were statistically analyzed. We analyzed 656 urgent psychiatric consultations in 2019 and 811 in 2020, requested by 425 patients in 2019 and 488 in 2020, respectively. In the pandemic period, we observed an increase in the total and daily number of UPC which were more frequently required by patients in care at local outpatient services in comparison with the previous period. During 2020, an increased number of UPC was carried out remotely and the outcome was more frequently represented by discharge at home, avoiding hospitalization as much as possible. In the course of the coronavirus pandemic, MHC had to face an increased demand for clinical activity especially from the most clinically and socially vulnerable patients, who more frequently required UPC in outpatient psychiatric services.

Multiomic analysis of HER2-enriched and AR-positive breast carcinoma with apocrine differentiation and an oligometastatic course: a case report.

Breast carcinoma is the most prevalent cancer among women globally. It has variable clinical courses depending on the stage and clinical-biological features. This case report describes a 56-year-old female with invasive breast cancer without estrogen or progesterone receptor expression, with apocrine differentiation, and with no germline variants in the BRCA1 and BRCA2 genes. Throughout the clinical course, the patient exhibited discordant results for HER2 in immunohistochemistry and in situ hybridization. During the second relapse, the disease displayed apocrine microscopic features. The tumor underwent analysis for the androgen receptor, GCDFP-15, RNA-seq, and whole-genome sequencing (WGS) to identify the breast cancer subtype and to characterize the cancer genome. Our bioinformatic analysis revealed 20,323 somatic SNV/Indels, including five mutations in cancer-related genes that are believed to be responsible for the tumor's development. Two of these mutations were found in the PIK3CA and TP53 genes. Furthermore, the tumor tissue exhibited large copy number alterations to the chromosomes, which could impact gene expression through complex mechanisms and contribute to the tumor phenotype. Clustering algorithms applied on RNA-sequencing data categorized this cancer as a HER2+ subtype. The second-line capecitabine chemotherapy treatment is ongoing, and the patient is responding well. Bioinformatic results support the current treatment decision and open the way to further treatments.

Sperm morphology: What implications on the assisted reproductive outcomes?

OBJECTIVE: To evaluate the impact of sperm morphology (SM) on laboratory and pregnancy outcomes in conventional intracytoplasmic sperm injection (c-ICSI) cycles, using the egg donation model to minimize female confounding variables. MATERIALS AND METHODS: We retrospectively collected data of oocyte donation cycles from October 2016 to February 2020. Median seminal parameters, total (1-2-3PN) fertilization rate (FR), 2PN FR, cleavage rate (CR), implantation rate (IR), pregnancy rate (PR), miscarriage rate (MR), and live birth rate (LBR) were collected. The study population was divided into three groups: Group 1 with SM < 4%, Group 2 with SM between 4% and 6%, and Group 3 with SM > 6%. RESULTS: Of 741 fresh ICSI cycles and 4507 warmed oocytes were included. Male age was 46.0 (31.0-72.0) years, and recipients' age was 44.0 (29.0-54.0) years. Normal SM was 5.0% (1.0%-15.0%). Male age was negatively correlated with normal SM (P = .002; Rho -0.113). Oocyte survival rate was 83.3% (16.7%-100.0%). Total FR was 75.0% (11.1%-100.0%), 2PN FR was 66.7% (11.1%-100.0%) %, and CR was 100% (0.0%-100%). Comparing samples with SM > 6% and those with SM < 4%, 2PN FR was significantly higher in the first group (P = .04). No significant associations were found among groups in terms of CR. IR was 27.7%, resulting significantly higher when normal SM was > 6% (P < .01). Clinical PR was 36.0%, MR was 23.9%, and LBR was 25.9%. PR and LBR were significantly higher in samples with normal SM > 6%, compared to other groups (P = .02 and P < .01, respectively). CONCLUSIONS: Although c-ICSI technique allows the embryologist to select the best quality spermatozoa, male factor plays a key role in achieving successful assisted reproductive outcomes. Normal SM has been shown to have implications not only for laboratory outcomes, in terms of fertilization, but also for clinical findings, as regards implantation, pregnancy, and live birth.

Blood plasma miR-20a-5p expression as a potential non-invasive diagnostic biomarker of male infertility: A pilot study.

BACKGROUND: Recently, alterations in miRNAs expression profile in semen have been linked to damaged spermatogenesis, suggesting miRNAs could be used as potential infertility biomarkers. In previous animal studies, miR-20a-5p was found to be down-expressed in low motile spermatozoa, implying its potential target of genes associated with cell apoptosis. OBJECTIVE: To investigate miR-20a-5p expression in blood plasma of patients suffering from non-obstructive azoospermia (NOA), compared to normozoospermic controls. MATERIALS AND METHODS: Between January 2018 and December 2019, from 52 infertile couples eligible for the study, 24 couples were finally enrolled in this monocentric observational prospective pilot study. Patients were included into two groups: Group 1 comprised men with NOA (n = 14) and Group 2 fertile men partners of women with female tubal factor infertility (n = 10). All NOA patients underwent testicular sperm extraction. The expression of circulating miR-20a-5p in plasma samples was assessed by RT-qPCR. A relative quantification strategy was adopted using the 2-ΔCq method to calculate the target miR-20a-5p expression with respect to miR-16-5p as endogenous control. RESULTS: Median blood plasma miR-20a-5p was significantly higher in patients affected by NOA (0.16 2-ΔCt , range: 0.05-0.79 2-ΔCt ) than in fertile controls (0.06 2-ΔCt , range: 0.04-0.10 2-ΔCt ), P < .001. MiR-20a-5p was positively correlated with follicle-stimulating hormone (FSH) (rrho  = -0.490, P = .015) and luteinizing hormone (LH) (rrho  = -0.462, P = .023), and negatively correlated with serum total testosterone (TT) (rrho  = -0.534, P = .007) and right and left testicular size (rrho  = -0.473, P = .020 and rrho  = -0.471, P = .020, respectively). Successful sperm retrieval (SR) rate was 50.0%. Median value of miR-20a-5p did not differ significantly among patients with successful SR and those with negative SR. Testicular histological examination showed: hypospermatogenesis in 6/14 (42.8%), maturation arrest in 4/14 (28.6%), sertoli cell-only syndrome in 4/14 (28.6%). No significant differences in miR-20a-5p were found between histopathological patterns (P > .05). CONCLUSIONS: MiR-20a-5p could represent a novel non-invasive diagnostic biomarker of male infertility.

Redox status assessment in infertile patients with non-obstructive azoospermia undergoing testicular sperm extraction: A prospective study.

BACKGROUND: Oxidative stress (OS) is one of the most prevalent causes of sperm damage, through the toxic effects of endogenously generated hydrogen peroxide, superoxide anion, and hydroxyl radicals. Peripheral leukocytes represent a feasible model for studying the pathophysiology of OS-mediated homeostasis, which can be responsible for cell dysfunction and cell injury. OBJECTIVE: To evaluate the redox status in patients with non-obstructive azoospermia (NOA), establishing the potential role exerted by reactive oxygen species (ROS) in the genesis of testicular secretory injury. MATERIAL AND METHODS: From May 2018 to March 2019, 39 patients were enrolled in this prospective single-center cohort study and divided into two groups. Group 1 included 19 patients with NOA, and Group 2 included 20 normozoospermic men, partners of women with infertility tubal factor. All patients underwent serum blood tests. NOA underwent testicular sperm extraction (TeSE). ROS production (in lymphocytes, monocytes, and granulocytes) was assessed by fluorescence-activated cell sorting (FACS) analysis. Plasma oxidative stress was evaluated by lipid peroxidation markers (MDA) and total antioxidant capacity (TAC) both assessed by fluorometric techniques. RESULTS: Mean lymphocyte ROS production resulted 967.0 ± 224.5 vs 728.0 ± 98.0 (NOA vs Controls, P < .001), monocyte ROS resulted 2102.5 ± 517.5 vs 1253 ± 171 (P < .001), and granulocyte ROS were 2366.5 ± 595.4 vs 1751.0 ± 213.0 (P < .001). Significant increases plasma lipid peroxidation markers were found in NOA patients compared with controls (2.7 ± 0.8 vs 0.37 ± 0.2 nmol/mL, P < .001). Significant decreased TAC was evident in NOA compared with controls (13.4 ± 3.9 vs 3.0 ± 0.2 µmol/mL Trolox equivalents, P < .001). No significant differences were found in blood leukocyte subpopulations ROS production, plasma lipid peroxidation, and TAC comparing groups (positive vs negative sperm retrieval, P > .05). CONCLUSION: ROS production can be directly related to disorders of spermatogenesis, leading to severe conditions of male infertility, including azoospermia.

Correlation between oocyte preincubation time and pregnancy rate after intracytoplasmic sperm injection.

BACKGROUND AND AIM: Both nuclear and cytoplasmic maturation of oocytes have to be completed in a coordinated manner to ensure optimal conditions for fertilization. This is well known for in vitro fertilization, but is debated for intracytoplasmic sperm injection (ICSI). It has been reported that preincubation of oocytes prior to ICSI is associated with improved maturation of oocytes, fertilization and embryo quality. Therefore, in the present study, we evaluated the fertilization rate, embryo quality and pregnancy rate in relation to incubation times of metaphase-II oocytes before ICSI. METHOD: We analyzed 135 selected ICSI cycles. Subjects were assigned to six groups according to oocyte incubation time before ICSI: 2-4 h, 5 h, 6 h, 7 h, 8 h and 9-12 h. RESULTS: We observed that the fertilization rate increased slightly at short (2 to 6 h) and then decreased at longer preincubation times (7 to 12 h). Concomitantly, cleavage rate increased up to 6 h of preincubation and decreased significantly in the groups in which ICSI was carried out after 7 to 12 h of incubation. With regard to clinical pregnancy rate, we observed a significant increase from 2 to 5 h of preincubation, when this parameter reached its maximum value (35%), tapering to 33% after 6 h and then dropping sharply to 12 h. CONCLUSIONS: These data confirm that the most appropriate incubation time for mature oocytes before ICSI is 5-6 h. This time improves embryo quality and pregnancy rate in ICSI cycles.

Novel method of histopathological analysis after testicular sperm extraction in patients with nonobstructive and obstructive azoospermia.

OBJECTIVE: To assess whether the "testicular pool" could be used for histological analysis and whether it gave more accurate information than the standard testicular biopsy. METHODS: Between January 2017 and March 2018, this single-center prospective study included 60 azoospermic men undergoing conventional bilateral testicular sperm extraction. Six samples were excised from each testicle and transferred to an embryologist. One additional biopsy was randomly taken from each testis for a histological analysis. After processing, the testicular pool was also sent for a histological analysis, which showed normal spermatogenesis (NS), hypospermatogenesis (HYPO), maturation arrest (MA), Sertoli cell-only syndrome (SCOS), and tubular atrophy (TA). RESULTS: Twenty of the 60 patients (33.3%) had obstructive azoospermia (OA), while the remaining 40 (66.6%) had nonobstructive azoospermia. Their mean age was 40.5 years. All patients with OA had previously undergone unsuccessful testicular fine-needle aspiration. Successful sperm retrieval (SSR) occurred in 93.3% of patients. Histological analysis of the testicular biopsy revealed NS in 12 patients (20%), HYPO and TA in 28 patients (46.6%), MA in eight patients (13.3%), and SCOS in 12 patients (20%). The testicular pool analysis showed NS in 12 patients (20%), HYPO and TA in 44 patients (73.3%), MA in four patients (6.6%), and SCOS in no patients. In four patients with MA (6.6% of the total sample) and 12 patients with SCOS (20% of the total sample) according to the standard testicular biopsy, the embryologist found SSR with cryopreservation. Overall, in 44 patients (73.3%), the testicular pool analysis confirmed the histological findings of the standard testicular biopsy. In the 16 cases (26.6%) with a discrepancy between the single-biopsy histological findings and SSR, the testicular pool analysis confirmed the embryological data on SSR. CONCLUSION: The testicular pool proved to be easily analyzable, practical, manageable, and more accurate for predicting sperm retrieval than standard testicular biopsy.

Intracytoplasmic sperm injection and pregnancy with decapitated sperm.

OBJECTIVE: To perform intracytoplasmic sperm injection (ICSI) in couples with primary infertility owing to sperm defects causing total immotility. DESIGN: Case report. SETTING: Couple Sterility Center, University of Siena. PATIENT(S): Two infertile couples, the male members of which had "detached tail" genetic sperm defect. MAIN OUTCOME MEASURE(S): Physical and hormonal assays, semen analysis by light and electron microscopy, Y microdeletion screening, immunofluorescence, fluorescence in situ hybridization analysis of sperm nuclei, and PCR for partial sequences of AKAP4/AKAP3 binding regions were performed. The couples then underwent ICSI. RESULT(S): Transmission electron microscopic analysis showed that the cause of sterility was "detached tail" genetic sperm defect. Immunofluorescence staining confirmed sperm structural alterations. Screening of Y microdeletions, partial sequences of AKAP4/AKAP3 binding regions, and fluorescence in situ hybridization did not show any sperm nucleus abnormalities. Three and two ICSI cycles were performed in the two couples. One pregnancy was achieved and a healthy baby with a normal female karyotype was born. CONCLUSION(S): One couple successfully underwent ICSI with "detached tail" sperm and gave birth to a healthy baby, suggesting that this structural abnormality may be bypassed by injecting sperm with a normal centriolar region.

De novo balanced chromosome rearrangements in prenatal diagnosis.

OBJECTIVE: We surveyed the datasheets of 29 laboratories concerning prenatal diagnosis of de novo apparently balanced chromosome rearrangements to assess the involvement of specific chromosomes, the breakpoints distribution and the impact on the pregnancy outcome. METHOD: By means of a questionnaire, data on 269.371 analyses performed from 1983 to 2006 on amniotic fluid, chorionic villus and fetal blood samples were collected. RESULTS: A total of 246 balanced anomalies were detected at frequencies of 72% for reciprocal translocations, 18% for Robertsonian translocations, 7% for inversions and 3% for complex chromosome rearrangements. The total frequencies of balanced rearrangements were 0.09%, 0.08% and 0.05% on amniotic fluid, chorionic villus and fetal blood samples. CONCLUSION: A preferential involvement of chromosomes 22, 7, 21, 3, 9 and 11 and a less involvement of chromosomes X, 19, 12, 6 and 1 was observed. A nonrandom distribution of the breakpoints across chromosomes was noticed. Association in the location of recurrent breakpoints and fragile sites was observed for chromosomes 11, 7, 10 and 22, while it was not recorded for chromosome 3. The rate of pregnancy termination was about 20%, with frequencies decreasing from complex chromosomal rearrangements (33%), reciprocal translocations (24%) to inversions (11%) and Robertsonian translocations (3%).

ICSI for treatment of human immunodeficiency virus and hepatitis C virus-serodiscordant couples with infected male partner.

BACKGROUND: Assisted reproductive technology with semen washing can offer a significant reduction in risk of sexual and vertical transmission of human immunodeficiency virus (HIV) and hepatitis C virus (HCV) in serodiscordant couples with infected male partner. METHODS: Among couples coming to our centre for reproductive problems from January 2001 to December 2003, we selected 43 couples with seropositive male and seronegative female: 25 couples with HIV-seropositive males, 10 couples with HIV/hepatitis C virus (HCV)-seropositive males and eight couples with HCV-seropositive males. Sperm samples were washed and used for ICSI. RESULTS: Seventy-eight cycles of ICSI were performed. The mean fertilization rate was 70.34 +/- 20.14% (mean +/- SD). A mean number of 3.55 +/- 1.11 (range: 1-5) embryos of good quality was transferred for each patient. We obtained 22 pregnancies (21 singletons and one twin), with a pregnancy rate per transfer of 28.2% and an implantation rate per transfer of 15.2%. The cumulative pregnancy rate was 51.2%. At follow-up, no seroconversion was detected in any patient. CONCLUSIONS: Our data suggest that sperm wash and ICSI could be useful for reducing the risk of HIV and/or HCV transmission in serodiscordant couples with infected male wishing to have a child, irrespective of their fertility status.