Ischemic vascular accident revealing hypoplasia of the internal carotid artery in a narrowed bony canal: A case report.

Hypoplasia of the internal carotid artery is a rare congenital abnormality that can present with an ischemic stroke or transient ischemic attacks. We present the case of a 17-year-old male who presented with right hemiparesis and dysarthria. The imaging revealed hypoplasia of the left internal carotid artery and narrowing of the left carotid duct. The patient was managed conservatively. This case highlights the importance of considering ICA hypoplasia as a cause of ischemic stroke in patients with a narrowed osseous canal. Early diagnosis and management can help prevent recurrent strokes.

From diagnosis to postoperative challenges: a comprehensive case report on 2q37 deletion syndrome with CHD.

Chromosomal 2q37 deletion syndrome, marked by developmental delays, distinctive facial features, and a spectrum of congenital anomalies, presents significant challenges in the cardiac management of affected individuals. This paper details the case of an 8-month-old male with 2q37 deletion syndrome, manifesting atrial and ventricular septal defects, patent ductus arteriosus, and right ventricular outflow tract stenosis, leading to a demanding postoperative course. Despite an initially stable post-surgery phase, the onset of junctional ectopic tachycardia necessitated prolonged veno-arterial extracorporeal membrane oxygenation support, highlighting the syndrome's potential for intricate postoperative courses. The complexities encountered in this case, including extended renal replacement therapy and delayed thoracic closure, underscore the syndrome's multisystem impact and the critical need for tailored, multidisciplinary care approaches. This report contributes to the growing body of knowledge on the cardiac implications of 2q37 deletion syndrome, emphasising the importance of individualised surgical strategies and the ongoing exploration of genotype-phenotype correlations in this rare genetic disorder.

Interstitial lung abnormality in COPD is inversely associated with the comorbidity of lung cancer.

BACKGROUND: Interstitial lung abnormality (ILA) has been recognized as a pertinent factor in the development and prognosis of various pulmonary conditions. However, its correlation with co-morbidities remains understudied. The current study endeavors to elucidate the association between ILA and both clinical features and co-morbidities in patients with chronic obstructive pulmonary disease (COPD). METHODS: A retrospective cohort comprising 1131 hospitalized patients diagnosed with COPD was examined in this observational study. Patients were dichotomously classified based on the presence or absence of ILA, and subsequent analyses scrutinized disparities in demographic, clinical, and laboratory profiles, alongside co-morbid conditions, between the two subgroups. RESULTS: Of the 1131 COPD patients, 165 (14.6%) exhibited ILA. No statistically significant differences were discerned between COPD patients with and without ILA concerning demographic, clinical, or laboratory parameters, except for levels of circulating fibrinogen and procalcitonin. Nevertheless, a notable discrepancy emerged in the prevalence of multiple co-morbidities. Relative to COPD patients devoid of ILA, those presenting with ILA manifested a diminished prevalence of lung cancer (OR = 0.50, 95% CI: 0.30-0.83, p = 0.006), particularly of the lung adenocarcinoma (OR = 0.32, 95% CI: 0.15-0.71, p = 0.005). Additionally, the presence of ILA in COPD was positively associated with heart failure (OR = 1.75, 95% CI: 1.04-3.00, p = 0.040) and cancers other than lung cancer (OR = 2.27, 95% CI: 1.16-4.39, p = 0.012). CONCLUSION: These findings demonstrate that the presence of ILA is associated with co-morbidities of COPD, particularly lung cancer.

Magnitude of cardiac abnormality and its associated factors among hyperthyroidism patients on follow-up at Tikur Anbessa Specialized Hospital, Addis Ababa, Ethiopia.

BACKGROUND: Thyroid hormones have an effect on every organ system, in particular, the heart responds to minimal changes in serum thyroid hormone level. Thyroid hormone causes a lot of changes in the cardiovascular system, such as increased heart rate, contractility, systolic hypertension, changes in peripheral vascular resistance, atrial fibrillation (AF), and hypercoagulability from the direct effect of thyroid hormone on cardiac myocyte and /or due to increased metabolic state. However, the magnitude of such heart abnormalities and its associated factors were not well studied in Ethiopia. OBJECTIVE: To determine the magnitude of cardiac abnormality and its associated factors among hyperthyroidism patients on follow-up at Tikur Anbessa Specialized Hospital (TASH), Addis Ababa, Ethiopia, 2022. METHODS: An institution-based cross-sectional study was carried out among 318 hyperthyroid patients who were on follow-up at the endocrine clinic of TASH, Addis Ababa, Ethiopia from June to October 2022. The data were collected using a pretested structured interviewer administered questionnaire. The data were entered into the computer using EpiData version 3.1 and analyzed using SPSS version 25 software. Bivariable and multivariable logistic regression models were fitted to determine the association between the independent and dependent variables. Adjusted odds ratio with its 95% confidence interval and p-value < 0.05 were used to declare the presence and strength of statistically significant associations. RESULT: In this study a total of 318 hyperthyroid patients were participated, most (90.9%) of them were females. The overall prevalence of heart failure among hyperthyroid patients was 17.0% (95% CI = 13.0, 21.6). More than half (52.7%) and one third (33.2%) of the participants showed abnormal electrocardiographic and echocardiographic findings respectively. Marital status (not married) [AOR = 2.37, 95% CI (1.03, 5.44)], pattern of hyperthyroidism [AOR = 13.09, 95% CI (4.70, 36.41)], being Asthmatic [AOR = 7.63, 95% CI (1.55, 37.52)], type of medication [AOR = 3.49, 95% CI (1.11, 11.02)] and duration of treatment [AOR = 4.95, 95% CI (2.05,11.99)] were significantly associated with cardiac abnormality. CONCLUSION: A significant portion of hyperthyroid patients overburdened by cardiac abnormalities. Being unmarried, overt hyperthyroid, Asthmatic, long stay on treatment and type of treatment were significantly associated with cardiac abnormality. Hence, attention should be given for cardiac abnormalities while treating hyperthyroid patients.

Association between Poor Outcomes and Risk of Refeeding Syndrome among Patients Urgently Admitted to the High Dependency Unit: A Single-Center Cohort Study in Japan.

Background/Objectives: Refeeding syndrome (RFS) is recognized as a potentially fatal metabolic disturbance, particularly concerning for non-critically ill patients who do not receive frequent electrolyte assessments. Assessing the risk of developing RFS and implementing preventive strategies is essential in these cases. We investigated the proportion of risk and its association with prognosis in a high-dependency unit (HDU). Method: This observational study was conducted in a tertiary care hospital's HDU in Japan. We consecutively enrolled all patients who had been admitted urgently to the HDU and hospitalized for three days or more. We evaluated the National Institute for Health and Clinical Excellence (NICE) RFS risk factors at admission and classified patients into four groups based on the modified NICE criteria. The primary outcome was 30-day in-hospital mortality. The secondary outcome was a composite of 30-day in-hospital mortality and transfer to the intensive care unit, or discharge to locations other than home. Using logistic regression, we assessed the association between the four risk groups and outcomes, using the no-risk group as a reference. Results: A total of 955 patients were analyzed, of which 33.1%, 26.7%, 37.8%, and 2.4% were classified into the no-risk, low-risk, high-risk, and very high-risk groups, respectively. The 30-day in-hospital mortality was 4.4%, 5.5%, 5.0%, and 21.7%, respectively (Log-rank trend test: p = 0.047). In multivariable logistic regression, adjusting for sepsis, comorbidities, and age, only the very high-risk group was associated with 30-day in-hospital mortality (odds ratio: 5.54, 95% confidence interval: 1.73-17.79) A similar association was observed for the secondary outcomes. Conclusions: For patients admitted urgently to the HDU, there may be an opportunity to improve outcomes for very high-risk patients through preventive strategies.

Unusual Presentation of Meckel's Diverticulitis Causing Small Bowel Obstruction Masquerading as Appendicitis.

Meckel's diverticulum (MD) is a prevalent congenital abnormality of the gastrointestinal tract. While it may not show any symptoms, it has the potential to cause serious complications, such as intestinal obstruction. This case report presents a case of a 27-year-old male who presented to the emergency department with migrating right lower abdomen pain and vomiting. An initial diagnosis of acute appendicitis was made. An erect X-ray of the abdomen showed features of small bowel obstruction and with a clinical suspicion of Meckel's, a diagnostic laparoscopy had been planned. However, the diagnostic laparoscopy identified a gangrenous MD with axial torsion, with an ileal loop knotting at the base of Meckel's, causing small bowel obstruction. This entanglement led to an obstruction, which is a rare and challenging clinical scenario. Surgical resection of the affected bowel segment, including the MD, was performed, leading to a complete recovery of the patient. This case study emphasizes the diagnostic difficulties presented by MD, particularly when its symptoms resemble more prevalent illnesses like appendicitis. The rare incidence of axial torsion resulting in gangrene in MD with small bowel obstruction highlights the significance of including this illness in the differential diagnosis of acute abdomen.

Liver function abnormality on admission predicts long COVID syndrome in digestive system.

Background: Clinical practice showed that many patients with SARS-CoV-2 infection presented with long COVID syndrome in digestive system. We sought to investigate the factor affecting the incidence of long COVID syndrome in digestive system. Methods and results: Patients with SARS-CoV-2 infection diagnosed at two centers of Zhongshan Hospital and one center of Shanghai Pudong Hospital from March 01, 2022 to May 31, 2022 were enrolled, collected in the hospital database, and followed up until March 30, 2023. The primary outcome of the study was the occurrence of post-acute sequelae of COVID-19 in the digestive system (long COVID syndrome). Modified Poisson regression was used to calculate the relative risk (RR). This cohort study included 494 patients with SARS-CoV-2 infection, 144 (29.1 %) patients developed liver function abnormality on admission. During the follow-up period, the primary study outcome occurred in 30 (20.8 %) of the group presenting with liver function abnormality on admission and in 20 (5.7 %) of the group without liver function abnormality on admission (adjusted, RR = 3.550, 95%CI: 2.099-6.006, P ≤ 0.001). Conclusion: Our study suggests that patients with COVID-19 who experience liver function abnormality on admission have an increased risk of developing long COVID syndrome in the digestive system.

Pupillary Peaking & Presence of Dysphotopsias Following Glaucoma Tube Shunt Surgery.

PURPOSE: To describe the presence of pupillary peaking and dysphotopsias in a sample of eyes following glaucoma drainage device (GDD) surgery. METHODS: Cross-sectional analysis of 68 glaucoma patients with GDD, 45 patients with glaucoma and no GDD, and 50 control patients was conducted in a single academic center. Patients with an appropriate diagnosis that met the inclusion criteria were asked to enroll in the study. All patients received an 8-item dysphotopsia questionnaire and were age-matched. Photographs of pupils were taken to assess pupillary peaking. One-way analysis of variance (ANOVA) testing was performed for statistical analysis. RESULTS: Of the 68 patients with GDD, 25 (36.76%) had pupillary abnormalities with peaking most commonly occurring in the direction of the tube entry superotemporally, and 50 (73.53%) had reported one or more dysphotopsias. In patients reporting one or more dysphotopsias, the rate of lines, crescents, ghost images, and shadows was significantly higher when compared to glaucoma patients without GDD and control patients (p < .01). This corresponded to a lower best-corrected visual acuity in the GDD group compared to the glaucoma and control groups (p < .001). CONCLUSIONS: Over a third of glaucoma patients receiving GDD had pupillary abnormalities, and nearly 3 out of 4 patients with GDD reported one or more dysphotopsias when compared to glaucoma patients without GDD and an age-matched control group. Glaucoma specialists and patients should be aware of these complications when proceeding with GDD surgery.

Prenatal Diagnosis and Clinical Outcomes of Isolated Mega Cisterna Magna.

Objective: The study aimed to investigate the clinical outcomes of fetuses diagnosed with isolated mega cisterna magna in utero. Methods: A multicenter retrospective cohort study was conducted across 18 university hospitals from 2010 to 2019. Cases diagnosed with isolated mega cisterna magna, defined as a cisterna magna >10 mm with a normal cerebellar vermis and no cystic dilation of the fourth ventricle, were included. Cases with other central nervous system (CNS) anomalies, extra-central nervous system anomalies, chromosomal abnormalities, or congenital infections were excluded. Maternal demographics, prenatal findings, delivery outcomes, and postnatal outcomes were analyzed. Results: The mean gestational age at initial diagnosis was 28.6 ± 3.9 weeks, and the mean anteroposterior diameter of the cisterna magna was 12.5 ± 3.2 mm. Of the 71 cases initially assessed, 48 (67.6%) showed self-regression in utero. Postnatally, 13 cases (18.3%) had persistent isolated mega cisterna magna, whereas 10 cases (14.1%) were diagnosed with other central nervous system anomalies. Among the persistent isolated mega cisterna magna cases, one child exhibited delayed neurodevelopment. There was a higher incidence of isolated mega cisterna magna in male fetuses, which exhibited a significantly larger mean cisterna magna diameter compared with female fetuses (P = .045). Conclusion: Male fetuses exhibited a higher incidence of isolated mega cisterna magna compared with female fetuses and had larger anteroposterior diameters of the cisterna magna. The study demonstrated favorable neurodevelopmental outcomes associated with isolated mega cisterna magna, with self-regression observed in two-thirds of the cases. However, consecutive prenatal and postnatal evaluations for additional central nervous system or extra-central nervous system malformations need to be performed, considering the differences between prenatal and postnatal diagnoses.

Adipose tissue insulin resistance in young Japanese women is associated with metabolic abnormalities and dehydroepiandrosterone-sulfate.

Objective: The proportion of young Japanese women who are underweight is exceptionally high. We previously showed that the prevalence of impaired glucose tolerance (IGT) was high in underweight young Japanese women, and that IGT was characterized by high free fatty acid levels and adipose tissue insulin resistance (ATIR). As the next step, this study aimed to explore factors associated with elevated ATIR in this population. Participants: Ninety-eight young, healthy, underweight women participated in this study. Design: To investigate the relationship between ATIR and metabolic parameters, participants were divided into three groups (Low, Medium, and High) according to ATIR level. Body composition examination, oral glucose tolerance testing, and blood biochemical analysis were performed; Adipo-IR and the Matsuda index were used as indices of ATIR and systemic insulin sensitivity, respectively. Results: Participants in the High ATIR group had the highest prevalence of IGT (25%), and significantly higher body fat percentage, whole-body insulin resistance, and levels of insulin-like growth factor-1 and dehydroepiandrosterone sulfate (DHEA-S) than the other two groups. They were also significantly younger and had higher systolic blood pressure than the Low ATIR group. Multiple regression analysis showed that DHEA-S, which is known to enhance lipolysis in adipose tissue, was an independent correlate of ATIR. Conclusions: Underweight Japanese women with high ATIR had impaired metabolism, a higher prevalence of IGT, higher systemic insulin resistance, and higher systolic blood pressure. DHEA-S was a determinant of high ATIR levels.

Risk-benefit analysis of a multi-site radiographer comment model for emergency departments.

OBJECTIVES: Critical/urgent X-ray findings are not always communicated in an appropriate time frame to ED physicians. The practice of radiographers alerting referrers to clinically significant image findings (verbally, via image flags or written comment) is noted internationally but risk assessment data is unavailable in the literature. A hybrid radiographer comment and alert model was piloted in New South Wales and a risk-benefit assessment conducted for timely and safe communication of abnormal X-ray appearances to ED physicians. METHODS: Radiographer comments (n = 1102) were provided to five New South Wales EDs by 69 radiographers for a period of 3-12 months. Site auditors classified comments as true positive (TP), false positive (FP) or indeterminate (ID) with respect to the radiology report. FP comments were investigated with ED referrers and a low-medium-high-risk assessment was provided by two independent reviewers. RESULTS: A total of 42 FP (3.9%; 95% confidence interval [CI] 2.9-5.3) comments were analysed for any adverse outcomes. Risk assessments demonstrated 37 low, 5 low-moderate and no high-risk cases. A total of 282 direct or potential patient benefits were identified (26.4%; 95% CI 23.8-29.1). A total of 42 radiology report discrepancies were incidentally found: (3.9%; 95% CI 2.9-5.3). Audit results demonstrated areas where the radiographer comment could mitigate risk. CONCLUSION: The provision of radiographer alerts with a written comment for ED was found to be low risk to patients in the pilot study. Radiographers communicating directly with the emergency team when abnormal image appearances are detected can reduce diagnostic error and improve patient safety and health outcomes.

Cytogenetic and Molecular Characteristics in Adult Hispanic Acute Myeloid Leukemia Patients From Puerto Rico.

The cytogenetic and molecular heterogeneity of acute myeloid leukemia (AML) is characterized as a contributing factor in the disparity of treatment outcomes and clinical outcomes seen among ethnic and racial groups. In this study, we have retrospectively evaluated the karyotypes of 800 adult Hispanic AML patients from Puerto Rico (PR). Acute promyelocytic leukemia with PML-RARA is the most common recurrent cytogenetic abnormality, compatible with previously published results. Among these AML patients, 163 patients had 21 gene panels performed. Twenty-six (15.95%) patients showed no detectable mutations, and 137 patients (84.05%) showed at least one mutation. Compared with previously published data from other examined Hispanic AML populations in the United States, mutational frequencies of these 21 genes, except for ASXL1, WT1, and KRAS, show no significant difference. This is the largest study to date about the landscape of cytogenetic and molecular abnormalities in Hispanic AML patients and a first report regarding the frequencies of these abnormalities in Puerto Rican Hispanic AML patients.

Spatial structural abnormality maps associated with cognitive and physical performance in relapsing-remitting multiple sclerosis.

OBJECTIVES: We aimed to characterize the brain abnormalities that are associated with the cognitive and physical performance of patients with relapsing-remitting multiple sclerosis (RRMS) using a deep learning algorithm. MATERIALS AND METHODS: Three-dimensional (3D) nnU-Net was employed to calculate a novel spatial abnormality map by T1-weighted images and 281 RRMS patients (Dataset-1, male/female = 101/180, median age [range] = 35.0 [17.0, 65.0] years) were categorized into subtypes. Comparison of clinical and MRI features between RRMS subtypes was conducted by Kruskal-Wallis test. Kaplan-Meier analysis was conducted to investigate disability progression in RRMS subtypes. Additional validation using two other RRMS datasets (Dataset-2, n = 33 and Dataset-3, n = 56) was conducted. RESULTS: Five RRMS subtypes were identified: (1) a Frontal-I subtype showing preserved cognitive performance and mild physical disability, and low risk of disability worsening; (2) a Frontal-II subtype showing low cognitive scores and severe physical disability with significant brain volume loss, and a high propensity for disability worsening; (3) a temporal-cerebellar subtype demonstrating lowest cognitive scores and severest physical disability among all subtypes but remaining relatively stable during follow-up; (4) an occipital subtype demonstrating similar clinical and imaging characteristics as the Frontal-II subtype, except a large number of relapses at baseline and preserved cognitive performance; and (5) a subcortical subtype showing preserved cognitive performance and low physical disability but a similar prognosis as the occipital and Frontal-II subtypes. Additional validation confirmed the above findings. CONCLUSION: Spatial abnormality maps can explain heterogeneity in cognitive and physical performance in RRMS and may contribute to stratified management. KEY POINTS: Question Can a deep learning algorithm characterize the brain abnormalities associated with the cognitive and physical performance of patients with RRMS? Findings Five RRMS subtypes were identified by the algorithm that demonstrated variable cognitive and physical performance. Clinical relevance The spatial abnormality maps derived RRMS subtypes had distinct cognitive and physical performances, which have a potential for individually tailored management.

Reproductive outcomes after preimplantation genetic testing in couples with sex chromosome abnormalities: a retrospective cohort study of 83 couples.

PURPOSE: To explore the effects of parental sex chromosome abnormality on their preimplantation embryos. METHODS: This is a retrospective cohort study including 83 couples with sex chromosome abnormalities undergoing preimplantation genetic testing (PGT) between 2013 to 2023. The preimplantation genetic testing results and pregnancy outcomes were compared to those of a control group consisting of 166 age-matched couples with normal karyotypes who underwent preimplantation genetic testing for monogenic disorders (PGT-M). Student's t-tests, chi-square or Fisher's exact tests were applied to compare clinical characteristics. RESULTS: The embryo euploidy rate was lower (58.94% vs 65.44%, P = 0.048, OR 0.76, 95%CI [0.58,0.99]) and the sex chromosomal aneuploidy rate was higher in the couples with sex chromosome abnormalities than control group (6.62% vs 2.63%, P = 0.004, OR 2.63, 95%CI [1.37,5.05]). The pregnancy outcomes including clinical pregnancy rates (48.57% vs 57.25%, P = 0.305) and live birth rates (47.14% vs 52.90%, P = 0.465) were similar between the two groups in their first embryo transfer cycles. CONCLUSIONS: To avoid high risk of embryo aneuploidy and sex chromosome abnormalities, preimplantation genetic testing should be recommended to couples with sex chromosome abnormalities.

Interexaminer agreement of gonioscopy examinations in dogs using the European College of Veterinary Ophthalmologists Hereditary Eye Diseases grading scheme.

OBJECTIVE: Prospective observational study with preregistered study protocol to assess interexaminer agreement using the 2022 European College of Veterinary Ophthalmologists Hereditary Eye Disease (ECVO-HED) gonioscopy grading scheme. ANIMALS STUDIED: Sixty client-owned dogs presented for gonioscopy as part of the required certification process prior to breeding. PROCEDURE: Two ECVO diplomates with comparable clinical experience performed gonioscopy with a Koeppe gonioscopy lens and slit-lamp biomicroscope at 10x magnification on all eyes in a randomized fashion. RESULTS: One hundred and eighteen of 120 eyes (60 dogs) were included. In 110/118 eyes (93%), both examiners provided the same breeding recommendation (yes/no). This translated into an agreement on the final breeding recommendation in 58/60 dogs (97%). Examiners disagreed on pectinate ligament abnormality (PLA) grading in 19/118 eyes and iridocorneal angle width (ICAW) grading in 9/118 eyes. PLA grading disagreement was mostly observed between neighboring grades. Disagreement between PLA and ICAW grading sometimes occurred within the same eye accounting for an observed disagreement in iridocorneal angle abnormality (ICAA) grading in 19/118 eyes in total. Cohen's kappa was Κ = 0.62 (95% TI 0.34-0.89), whereas maximum kappa was maxΚ = 0.82 (95% TI 0.59-1). Mixed model analysis suggested no significant examiner influence on breeding recommendations (OR 0.17; 95% CI 0.02-1.12, p = .09). CONCLUSIONS: Although examiners disagreed on ICAA grading in 19/118 eyes, this resulted in a different breeding recommendation (yes/no) in eight eyes and in two dogs only. Therefore, the use of the 2022 ECVO-HED gonioscopy grading scheme seems to result in examiners providing the same breeding recommendations in most cases.

The role of 1q abnormalities in multiple myeloma: Genomic insights, clinical implications, and therapeutic challenges.

Chromosome 1q copy number variations, collectively termed +1q, are 1 of the most common cytogenetic abnormalities in multiple myeloma. 1q abnormalities are associated with overexpression of a high-risk gene signature promoting cell proliferation, apoptosis resistance, genomic instability, and treatment resistance, and acquisition or expansion of +1q subclones mediate disease development and relapse. While there remains significant controversy as to whether the presence of +1q is itself an independent driver of poor prognosis or is simply a marker of other high-risk features, +1q has recently been incorporated into multiple prognostic scoring models as a new high-risk cytogenetic abnormality. In this review, we present possible underlying genetic mechanisms of high-risk disease in +1q myeloma, implications for subclonal development, its role in modifying the tumor microenvironment, current evidence for clinical significance in newly-diagnosed and relapsed patients, and current controversies in +1q classification and prognostication.

Comprehensive analysis of chromosomal breakpoints and candidate genes associated with male infertility: insights from cytogenetic studies and expression analyses.

The study aimed to investigate prevalent chromosomal breakpoints identified in balanced structural chromosomal anomalies and to pinpoint potential candidate genes linked with male infertility. This was acchieved through a comprehensive approach combining RNA-seq and microarray data analysis, enabling precise identification of candidate genes. The Cytogenetics data from 2,500 infertile males referred to Royan Research Institute between 2009 and 2022 were analyzed, with 391 cases meeting the inclusion criteria of balanced chromosomal rearrangement. Of these, 193 cases exhibited normal variations and were excluded from the analysis. By examining the breakpoints, potential candidate genes were suggested. Among the remaining 198 cases, reciprocal translocations were the most frequent anomaly (129 cases), followed by Robertsonian translocations (43 cases), inversions (34 cases), and insertions (3 cases).Some patients had more than one chromosomal abnormality. Chromosomal anomalies were most frequently observed in chromosomes 13 (21.1%), 14 (20.1%), and 1 (16.3%) with 13q12, 14q12, and 1p36.3 being the most prevalent breakpoints, respectively. Chromosome 1 contributed the most to reciprocal translocations (20.2%) and inversions (17.6%), while chromosome 14 was the most involved in the Robertsonian translocations (82.2%). The findings suggested that breakpoints at 1p36.3 and 14q12 might be associated with pregestational infertility, whereas breakpoints at 13q12 could be linked to both gestational and pregestational infertility. Several candidate genes located on common breakpoints were proposed as potentially involved in male infertility. Bioinformatics analyses utilizing three databases were conducted to examine the expression patterns of 78 candidate genes implicated in various causes of infertility. In azoospermic individuals, significant differential expression was observed in 19 genes: 15 were downregulated (TSSK2, SPINK2, TSSK4, CDY1, CFAP70, BPY2, BTG4, FKBP6, PPP2R1B, SPECC1L, CENPJ, SKA3, FGF9, NODAL, CLOCK), while four genes were upregulated ( HSPB1, MIF, PRF1, ENTPD6). In the case of Asthenozoospermia, seven genes showed significant upregulation (PRF1, DDX21, KIT, SRD5A3, MTCH1, DDX50, NODAL). Though RNA-seq data for Teratozoospermia were unavailable, microarray data revealed differential expression insix genes: three downregulated (BUB1, KLK4, PIWIL2) and three upregulated (AURKC, NPM2, RANBP2). These findings enhance our understanding of the molecular basis of male infertility and could provide valuable insights for future diagnostic and therapeutic strategies.