Search Results (1,911)

Background and Objectives: Aneuploidy is the leading cause of implantation failure and miscarriage, with prevalence increasing with maternal age. Embryos classified as chaotic, characterized by the presence of five or more chromosomal abnormalities, and those with complex aneuploidies, defined by two to four abnormalities, represent a controversial category in preimplantation genetic testing for aneuploidy (PGT-A), as the potential for misclassification remains a significant concern. Materials and Methods: We performed a retrospective study at the Calla IVF Center, Oradea, analyzing 230 blastocysts grouped by maternal age (25–30, 31–35, 36–40, and 41–50 years). A trophoblast biopsy was performed on days 5–7, and the samples were analyzed by next-generation sequencing (NGS). Embryos were classified as euploid, aneuploid, mosaic, or chaotic. The 19 embryos initially diagnosed as chaotic were thawed and subjected to re-biopsy. Statistical analysis included descriptive statistics (chi-square tests and ANOVA) and multivariable regression models, with p < 0.05 as the criterion for statistical significance. Results: Aneuploidy increased with maternal age, from 29.6% in women aged 25–30 years to 68.7% in those aged 41–50 (p = 0.002). Poor-quality blastocysts exhibited higher aneuploidy rates (72.4%) than good-quality embryos (34.6%; p = 0.004). Chaotic embryos comprised 8.3% of the cohort. Upon re-biopsy, none were confirmed as euploid; all remained abnormal and were reassigned to aneuploid, mosaic, or persistently chaotic categories. This finding suggests that apparent euploid results reported elsewhere may reflect technical variability and sampling limitations in PGT-A rather than accurate chromosomal normalization. Conclusions: The prevalence of aneuploid embryos showed a progressive increase with advancing maternal age. Chaotic embryos are heterogeneous, and re-biopsy may help refine the interpretation of complex PGT-A profiles, supporting its role as a diagnostic and quality control tool rather than a strategy to identify euploid embryos. Our study offers novel insights through age-stratified analysis, the integration of morphology with genetics in a Romanian IVF cohort, and a detailed evaluation of chaotic embryos, providing clinical recommendations for patient counseling and embryo selection. Full article

(1) Background: Drug–drug interactions (DDIs) are a frequent cause of medication-related harm, particularly in ambulatory care. Community pharmacists are uniquely positioned to identify and manage these risks. This study assessed DDI knowledge, practices, and barriers among community pharmacists in the Jazan Region, Saudi Arabia. (2) Methods: A structured, self-administered questionnaire was distributed to community pharmacists. The survey assessed DDI knowledge using 26 clinically relevant drug pairings and included questions on professional behavior, training exposure, software use, and educational needs. Descriptive and inferential statistics were applied to identify associations between knowledge scores and demographic or practice-related variables. (3) Results: A total of 219 pharmacists participated in the study. The mean knowledge score was (9.63 ± 4.58) out of 26, reflecting suboptimal to moderate awareness. Female pharmacists demonstrated significantly higher DDI knowledge scores than males (10.74 ± 5.4 vs. 9.08 ± 4.2; p = 0.016). Knowledge scores also differed significantly by academic qualification (p < 0.001), with PharmD holders scoring higher than B. Pharm and postgraduate degree holders. Pharmacists with less than 10 years of experience had significantly higher scores compared with those with longer practice duration (p = 0.002). Additionally, pharmacists who graduated from Saudi institutions scored higher than those trained outside Saudi Arabia (10.22 ± 4.7 vs. 8.44 ± 4.2; p = 0.005). Pharmacists who had received professional development training and those who attended workshops regularly also scored significantly higher. Familiarity with guidelines showed a positive trend. Reported barriers to effective DDI counseling included time constraints, limited patient understanding, and poor collaboration with prescribers. Self-rated awareness of DDIs was positively associated with actual knowledge scores. Pharmacists expressed strong preferences for workshops, online courses, and webinars as future training formats. (4) Conclusions: Pharmacists in the Jazan Region demonstrate moderate awareness of DDIs, with variation influenced by training, experience, and qualifications. Enhancing access to structured professional development and integrating clinical decision support tools could strengthen pharmacists’ role in preventing DDIs in community practice. Full article

Background/Objectives: Emerging evidence suggests that multiple micronutrient supplements (MMS) provide additional benefits for maternal and neonatal health compared with iron and folic acid (IFA) supplements. To achieve effective coverage, acceptability, and adherence—and to inform a nationwide rollout of MMS—it is essential to understand the context-specific factors that shape implementation. This study evaluated the pilot implementation of MMS in Rwanda to identify key enablers, areas for improvement, and challenges related to antenatal care (ANC) attendance and MMS use. Methods: Data were collected through a survey of 3257 women who attended ANC services, seven focus group discussions with 35 ANC attendees, and key informant interviews with 20 ANC nurses and 21 community health workers. Results: Pregnant women reported high ANC attendance (74%) and MMS consumption (79%), largely driven by strong motivation and awareness of MMS benefits. Strategies to remember daily intake and to manage side effects supported adherence, as did reminders, motivation, and information from family members and healthcare providers. Limited patient-centered counselling, financial constraints, barriers to accessing ANC services, and product stock-outs were key areas for strengthening service delivery in Rwanda. Conclusions: Sustaining high ANC attendance and MMS adherence as the program transitions from the pilot phase to national scale-up is essential. Improving counseling quality and strengthening supply chains may reinforce ANC services and support sustained MMS adherence, with benefits for maternal and child health. Full article

Sickle cell disease is an autosomal recessive hemoglobin disorder affecting about 100,000 people in the United States, predominantly those of African descent. A point mutation in the β-globin gene in red blood cells causes these cells to sickle under hypoxemic conditions, reducing blood flow and oxygen delivery to tissues. This manifests in the form of painful vaso-occlusive episodes, acute chest syndrome, and acute infarction of various organs, including the spleen, bone, and lung. While sickle cell disease complications such as hemolytic anemia, tissue hypoxia, and chronic organ damage are well studied, attention to the unique reproductive challenges faced by patients with sickle cell disease remains underrecognized and underappreciated. This review aims to explore key reproductive health issues in patients with sickle cell disease, including diminished ovarian reserve, infertility, and obstetric and perinatal risk. Secondly, this review aims to identify key counseling and care opportunities for providers to support patients with sickle cell disease in meeting their reproductive goals. Full article

The SCANVIR^® project is a regional initiative aimed at accelerating the elimination of hepatitis C virus (HCV) by reaching high-risk populations outside traditional healthcare settings. Launched in 2017 in Limoges and later expanded to Poitiers and Bordeaux, the project organized dedicated screening and treatment days in 43 facilities taking care of intravenous drug users, migrants, and prisoners in Nouvelle-Aquitaine. These events involved multidisciplinary teams and advanced diagnostic tools, including rapid tests for HCV, HBV, and HIV; FibroScan^® for liver assessment; and GeneXpert^® for on-site HCV RNA detection. Patients also received counseling on risk prevention, addiction, psychosocial support, and treatment when needed. Between 2017 and 2024, SCANVIR^® screened 1664 patients, with 98.9% accepting FibroScan^®. Anti-HCV antibodies were detected in 23.4% of participants, among whom 41.5% (N = 162) had a replicative profile. Of these, 83% initiated treatment and 80% were cured or were still undergoing therapy. FibroScan^® assessments showed advanced fibrosis in 17% of patients, severe fibrosis in 7.2%, and severe steatosis in 18%. By promoting a “Test, Treat, Prevent” strategy, SCANVIR^® proved cost-effective in diagnosing and treating individuals distant from care structures, highlighting the value of integrating education and prevention into liver disease screening. SCANVIR^® is an officially registered European trademark. Full article

An increasing number of young women with hormone receptor-positive (HR+) early breast cancer desire pregnancy after treatment. Prolonged adjuvant endocrine therapy, concerns regarding recurrence risk, and treatment-related fertility decline have historically complicated reproductive decision-making in this population. This narrative review synthesizes current evidence on pregnancy after early HR+ breast cancer, with particular emphasis on prospective data from the POSITIVE trial. We examine the safety of temporary endocrine therapy interruption, the impact of assisted reproductive technologies (ART) in achieving pregnancy, breastfeeding feasibility and impact, hormonal predictors of fertility, pregnancy outcomes and considerations for special populations, including BRCA mutation carriers. Retrospective studies have suggested no adverse survival impact associated with pregnancy after breast cancer. The POSITIVE trial provides prospective evidence that temporary interruption of endocrine therapy to attempt pregnancy does not increase short-term recurrence risk in selected patients. Approximately three-quarters of participants achieved pregnancy. Fertility preservation and ART were commonly used and were not associated with worse short-term oncologic outcomes. Biomarkers such as anti-Müllerian hormone offer supportive but imperfect prediction of fertility potential. Breastfeeding was feasible for many women and did not adversely affect breast cancer outcomes. Available data among BRCA mutation carriers are reassuring but largely observational. Current evidence supports the safety and feasibility of pregnancy after early HR+ breast cancer in carefully selected patients. However, longer follow-up, inclusion of higher-risk populations, and evaluation of newer therapies are needed. Individualized, multidisciplinary counselling remains central to informed decision-making. Full article

Worsening nutritional status in patients with pancreatic cancer may be associated with poorer tolerance to chemotherapy and increased complications. This retrospective cohort pilot study, conducted between October 2023 and March 2024, aimed to evaluate the association between nutritional status, weight loss, and clinical outcomes that included hospitalization, neutropenia, chemotherapy delay, and worsening laboratory changes. Patients were categorized into two groups: those with weight loss >5% of usual body weight and those with ≤5%. Of the 21 participants, 8 were male and 13 were female. Weight loss >5% was significantly associated with more patients requiring hospitalizations compared to weight loss ≤5% [6 (75%) vs. 3 (23.1%), p = 0.02], while no statistically significant differences were observed for other clinical outcomes. Risk factors associated with greater weight loss included age >72 years (crude odds ratio [COR] 9.17; 95% CI 1.15–73.24; p = 0.037), treatment with a paclitaxel plus gemcitabine regimen (COR 12.00; 95% CI 1.02–141.34; p = 0.048), and a history of hospitalization (COR 10.00; 95% CI 1.28–78.12; p = 0.028). Weight loss in pancreatic cancer is linked to poorer clinical outcomes, with older age, certain chemotherapy regimens, and hospitalization identified as risk factors. Early dietary counseling by registered dietitians may help mitigate this risk. Full article

Background: Microvascular osseous free flaps play a central role in head and neck reconstruction; surgeons often rely on fragmented and inconsistently reported data when counselling patients and planning reconstructive strategies. This systematic review and meta-analysis aimed to quantify postoperative complication rates and to evaluate complication patterns according to flap type. Methods: The study protocol was registered in PROSPERO (CRD420251237516). Studies published between January 2000 and November 2025 reporting postoperative complications following mandibular or maxillary reconstruction with osseous free flaps were identified. Eligible studies included adult cohorts with a minimum sample size of twenty patients. Random-effects meta-analyses of proportions were conducted. Risk of bias was assessed using the ROBINS-I tool. Results: Fourteen retrospective studies encompassing 1198 flaps were included. The pooled incidence of total flap loss was 6% (95% CI 3–9%), and partial flap loss was 6% (95% CI 3–10%). The pooled rates for postoperative infection, fistula formation, and wound dehiscence were 7% (95% CI 2–22%), 12% (95% CI 7–20%), and 16% (95% CI 8–31%), respectively, with substantial heterogeneity. Fibular free flaps demonstrated pooled rates of 6.1% for total flap loss, 6.6% for partial flap loss, 9.0% for infection, 10.4% for fistula formation, and 17.1% for wound dehiscence. For scapular free flaps, pooled total flap loss was 5% (95% CI 1–29%). DCIA flaps demonstrated hardware-related complications (8.1%), fistulas (16.7%), bone exposure (4.2%), and wound dehiscence (29.7%). Donor site morbidity was inconsistently reported and could not be quantitatively synthesized. Conclusions: Osseous free flap reconstruction shows relevant complication rates, highlighting the need for standardized reporting to support evidence-based decision-making. Full article

Fabry disease (FD) exhibits a spectrum of clinical manifestations ranging from mild to severe, posing a diagnostic challenge, particularly in non-classic subtypes. Genetic testing remains a gold standard for a precise diagnosis of FD and is pivotal in genetic counseling. Although conventional approaches such as Sanger sequencing and short-read next-generation sequencing (NGS) have been successfully used to diagnose FD, they often fail to detect deep intronic variants, complex rearrangements, or large deletions or duplications. In contrast, long-read sequencing (LRS) enables comprehensive coverage of intronic and repetitive regions, facilitating precise identification of atypical variants missed by conventional methods. This case series reports two unrelated male patients with clinical, enzymatic, and pathological features consistent with FD, who tested negative for pathogenic variants in the alpha-galactosidase A (GLA) via Sanger sequencing and NGS. LRS identified novel non-coding variants in both patients. Patient 1 carried a ~1.7 kb insertion within intron 4, corresponding to part of a long interspersed nuclear element-1, while RNA sequencing revealed two new GLA transcripts. Patient 2 harbored a ~2.5 kb insertion within a SINE-VNTR-Alu retroposon element located in the 5′-untranslated region, with quantitative real-time PCR showing significantly reduced expression of normal GLA transcripts. These findings reveal non-coding variants that contribute to the missing heritability in FD, highlight this genomic region as a priority for future investigation, and demonstrate the potential utility of LRS in diagnostic workflows for unresolved FD cases. Full article

Background and Objectives: Obesity is a major contributor to female reproductive dysfunction, frequently resulting in menstrual irregularity, anovulation, and subfertility. Bariatric surgery improves metabolic health; however, its effect on reproductive outcomes—particularly the shift from assisted to spontaneous conception—remains incompletely defined. This study aimed to evaluate the impact of laparoscopic sleeve gastrectomy (LSG) on menstrual cycle regularity and spontaneous pregnancy rates in women of reproductive age. Materials and Methods: This retrospective observational study included 52 women aged 18–40 years who underwent LSG between January 2013 and October 2017. Self-reported menstrual history, as documented during routine preoperative assessment in the electronic medical records, and reproductive outcomes (including spontaneous and assisted conception) were compared between the preoperative and postoperative periods. The median follow-up duration was 38 months. Results: A significant improvement in menstrual regularity was observed (46.2% to 94.2%, p < 0.001). Among women attempting conception, 10/15 (66.7%) achieved spontaneous pregnancy; one conceived via ART. Notably, 57.1% of all pregnancies occurred within the first 12 months post-surgery, including three unintended conceptions. Additionally, among women who conceived spontaneously, four had a history of requiring assisted reproductive technologies (ART), including two who had previously failed to conceive despite ART treatment. Conclusions: LSG is associated with significant normalization of menstrual cycles and a qualitative shift toward spontaneous conception in morbidly obese women. The rapid return of fertility, which may exceed patient awareness, underscores the importance of comprehensive perioperative counseling regarding effective contraception to prevent unintended pregnancies during the active weight-loss phase. Full article

Objective: Pleomorphic Adenoma (PA) is the most common benign salivary gland tumor. The need and duration of follow-up post resection is debatable. The aim of our study was to examine the need for routine follow-up after PA resection. Methods: Retrospective case-series analysis of adult patients with PA, between 1990 and 2023. Numbers of office examinations, imaging studies, time from first surgery to recurrence and recurrence detection modality were collected. Results: Overall, 301 patients had undergone surgery for PA, of which 28 experienced recurrence (9.3%). Mean time from surgery to first recurrence was 119.5 months (range, 33–274). Of the 40 recurrences, 36 were self-discovered (90%), 2 by clinical examination (5%) and 2 by imaging (5%). A total of 618 office examinations and 155 imaging studies were performed. Conclusions: Routine examinations and imaging appear to be of low yield in most PA patients, specifically in the first 3 years. Patients should be counseled about self-detection and ominous symptoms necessitating evaluation. Full article

Background/Objectives: Single-sided deafness (SSD) impairs speech perception, reduces spatial hearing, decreases quality of life, and is frequently accompanied by tinnitus. Cochlear implantation (CI) has become an established treatment option, but long-term prospective evidence across multiple functional and psychological domains remains limited. This study investigated auditory performance, subjective hearing outcomes, tinnitus burden, and psychological well-being over a two-year follow-up in a large SSD cohort. Methods: Seventy adults with SSD underwent unilateral CI. Assessments were conducted preoperatively and at 6 months, 1 year, and 2 years postoperatively. Outcome measures included the Freiburg Monosyllable Test (FS), Oldenburg Inventory (OI), Nijmegen Cochlear Implant Questionnaire (NCIQ), Tinnitus Questionnaire (TQ), Perceived Stress Questionnaire (PSQ), Generalized Anxiety Disorder scale (GAD-7), and General Depression Scale (ADS-L). Longitudinal changes were analyzed using Wilcoxon signed-rank tests with effect sizes; Holm-adjusted p-values were applied for baseline-to-follow-up comparisons. Results: Speech perception improved markedly within the first 6 months and remained stable through 2 years, with large effect sizes. All OI subdomains demonstrated early and sustained improvements in subjective hearing ability. Several hearing-related quality-of-life domains assessed by the NCIQ, particularly social interaction, self-esteem, and activity participation, showed medium-to-large long-term improvements. Tinnitus severity decreased substantially, with marked reductions observed by 6 months and maintained thereafter; the proportion of tinnitus-free patients increased at follow-up, although tinnitus symptoms persisted in a substantial subset of participants. Perceived stress was reduced initially at the early follow-up and remained below baseline thereafter. Anxiety and depressive symptoms mostly stayed within nonclinical ranges, showing no lasting changes after adjusting for multiple comparisons. Conclusions: In this prospective cohort, cochlear implantation was associated with durable improvements in auditory outcomes, tinnitus burden, and selected patient-reported quality-of-life domains over two years. Although significant functional and patient-centered improvements were noted, persistent tinnitus and diverse psychosocial outcomes underscore the need for personalized counseling and comprehensive follow-up that incorporate patient-reported outcomes and psychological assessments. Full article

Familial cancers are caused by inherited mutations in specific genes that regulate cell growth, division, and repair. Approximately 5–10% of all cancer cases have a hereditary component, where germline mutations in certain genes increase an individual’s susceptibility to developing cancer. Two major categories of genes are involved in cancer development: tumour suppressor genes and oncogenes. Both play critical roles in regulating normal cell behaviour, and when mutated, they can contribute to uncontrolled cell proliferation and tumour formation. In addition to genetic mutations, epigenetic alterations also play a significant role in familial cancer. Epigenetics refers to changes in gene expression due to DNA methylation, histone modifications, and the dysregulation of non-coding RNAs without alter the underlying DNA sequence. Familial cancer syndromes follow various inheritance patterns, including autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance, each with distinct characteristics. Identifying genetic mutations associated with familial cancers is a cornerstone of genetic counselling, which helps individuals and families navigate the complex intersection of genetics, cancer risk, and prevention. Early identification of mutations enables personalized strategies for risk reduction, early detection, and, when applicable, targeted treatment options, ultimately improving patient outcomes. Full article

Background: Effective preoperative patient counseling is essential to shared decision-making. In thyroid surgery, patient communication can be complicated by the complex anatomy and variable surgical approaches, which may not be fully conveyed through conventional verbal explanations or schematic drawings. Virtual three-dimensional (3D) thyroid models may provide an intuitive tool to enhance patient comprehension. Methods: We conducted a randomized controlled trial at Peking Union Medical College Hospital with 94 newly-diagnosed thyroid cancer patients scheduled for thyroidectomy. Participants were assigned to either the control group (n = 47), which received preoperative drawing-based counseling, or the intervention group (n = 47), which utilized a virtual 3D model for communication. The Thyroid Navigator app, developed by Kuma Hospital, was used to provide dynamic 3D representation of the thyroid gland, surrounding structures, and potential surgical procedures. After standardized preoperative consultations, patients were surveyed to assess their understanding in pertinent anatomy and postoperative complications. Results: Patients in the 3D model group demonstrated similar correct response rates in lesion localization (p = 0.536) or parathyroid gland recognition (p = 0.071), but significantly higher accuracy in identifying the recurrent laryngeal nerve and the extent of lymph node dissection compared with the control group (p < 0.05). Moreover, comprehension of the causes of major postoperative complications—including hoarseness (recurrent laryngeal nerve injury, p = 0.004), hypocalcemia (parathyroid gland impairment, p = 0.015), and bleeding (inadequate hemostasis, p = 0.008)—was significantly improved in the 3D model group. Conclusions: Use of a virtual 3D thyroid model significantly improves patient comprehension of thyroid anatomy, surgical procedures, and potential complications, thereby enhancing clinician–patient communication. Virtual 3D models represent a practical and cost-effective supplement to conventional counseling in thyroid surgery, offering clear benefits in patient education and shared decision-making. Full article

Myeloid neoplasms (MNs) with germline predisposition represent a distinct, increasingly recognized category in the WHO classification, encompassing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) arising in the context of an inherited genetic alteration or mutation. While often presenting at a younger age or with characteristic cytopenias with or without organ dysfunction, some can manifest in adulthood, highlighting the need for vigilance regardless of age or family history. Key predisposing genes include transcription factors (e.g., RUNX1, CEBPA) and genes involved in RNA splicing and telomere biology disorders. Identification of these germline mutations is critical as MNs with germline predisposition dictate specific therapeutic strategies—particularly for hematopoietic stem cell transplantation (HSCT)—and require genetic counseling and surveillance for at-risk relatives. Accurate diagnosis often requires non-hematopoietic germline DNA testing, which provides important biological insights into the development of different myeloid neoplasms and directs personalized patient care. Full article