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1.
Cureus ; 16(4): e57542, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38707066

RESUMO

Primary pleural Ewing sarcoma is a rare type of Ewing sarcoma with only a few case reports identified in the literature. The condition is challenging to diagnose with deceiving symptoms and wide differential diagnosis. Diagnosis is confirmed with a combination of radiological and pathological assessment. Treatment is similar to other types of Ewing sarcoma with chemotherapy and surgery being the mainstay of treatment. We identify an unusual presentation of pleural Ewing sarcoma in a 31-year-old male with a mass extending into the right ventricular outlet causing rapid deterioration of the patient.

2.
J Pediatr Orthop B ; 2024 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-38700872

RESUMO

The neck of femur fracture (FNF) in children is a rare injury with a high incidence of complications such as avascular necrosis (AVN), coxa-vara and nonunion. The aim of this review is to compare the incidence of complications between open reduction with internal fixation (ORIF) and closed reduction with internal fixation (CRIF) of FNF in children. Two independent reviewers searched EMBASE, MEDLINE, COCHRANE and PUBMED databases from inception until April 2022 according to the preferred reporting items for systematic reviews and meta-analyses guidelines. Studies included comparison of complications between open and closed approaches with fixation of FNF in patients less than 18 years old. Publication bias was assessed using Egger's test while the Newcastle-Ottawa tool was used to assess the methodological quality of the studies. A total of 724 hip fractures from 15 included studies received either ORIF or CRIF. Overall, the rate of AVN was approximately 21.7% without statistical significance between both reduction methods [relative risk (RR) = 0.909, using fixed effect model at 95% confidence interval (CI, 0.678-1.217)]. No significant heterogeneity among AVN studies ( I2  = 3.79%, P  = 0.409). Similarly, neither coxa-vara nor nonunion rates were statistically significant in both treatment groups (RR = 0.693 and RR = 0.506, respectively). Coxa-vara studies showed mild heterogeneity ( I2  = 27.8%, P  = 0.218), while significant publication bias was encountered in nonunion studies ( P  = 0.048). No significant difference in the incidence of AVN, coxa-vara and nonunion between ORIF or CRIF of FNF in children. High-quality studies as Randomised Controlled Trials can resolve the inconsistency and heterogeneity of other risk factors including age, initial displacement, fracture type, reduction quality and time to fixation.

3.
Cureus ; 16(4): e58714, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38779289

RESUMO

Introduction Obstructive sleep apnea (OSA) is prevalent among children, impacting their well-being. Obesity and related morbidity may lead to serious health disorders. In obese children, OSA may be a risk factor for systemic diseases that negatively affect their quality of life. This study explored the correlation between obesity and OSA among children aged five to 14 years in Tabuk, Saudi Arabia. Methods This cross-sectional study employed an online questionnaire for the parents of 517 children, assessing sociodemographic variables, medical history, and OSA symptoms. The data analysis used Statistical Product and Service Solutions (SPSS; IBM SPSS Statistics for Windows, Armonk, NY) software, employing descriptive and inferential statistics. Results The children were predominantly male (281, 54.4%) and from Tabuk (405, 78.3%), with 158 (30.6%) classified as obese. Symptoms such as snoring (191, 36.9%), daytime fatigue (195, 37.7%), and impact on daily activities (79, 15.3%) were prevalent. OSA scores significantly correlated with BMI categories (p < 0.001), family history of OSA (p < 0.001), and medical conditions including diabetes, hypertension, and high cholesterol (p < 0.05). Correlations showed weak positive associations of age (ρ = 0.159) and height (ρ = 0.229) with OSA score, whereas a strong correlation existed between weight (ρ = 0.531) and OSA score (p < 0.001). Conclusion Obesity demonstrated a strong association with OSA severity among children in Tabuk. Higher BMI categories, a family history of OSA, and certain medical conditions correlated significantly with increased OSA scores. Although age and height displayed weaker associations, weight emerged as a major contributing factor to OSA severity. These findings emphasize the importance of addressing obesity in managing pediatric OSA, advocating for early interventions to mitigate its impact on children's health and well-being.

4.
Aesthetic Plast Surg ; 2024 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-38740623

RESUMO

BACKGROUND: Immediate action is required to address some complications of implant-based reconstruction after mastectomy to prevent reconstruction failure. Implant exchange may be simple but poses the risk of further complications while autologous flap reconstruction seems more complex but may pose less subsequent risk. Which of these is preferable remains unclear. METHODS: We reviewed thirty-two female breast cancer patients who had serious complications with their breast implants after post-mastectomy reconstruction. Latissimus dorsi flap (LDF) patients underwent explantation and immediate reconstruction with an LDF, while implant exchange (IE) patients underwent immediate implant removal and exchange with an expander followed by delayed reconstruction with silicon or immediately with a smaller size silicone implant. RESULTS: LDF patients underwent a single operation with an average duration of care of 31 days compared to an average 1.8 procedures (p= 0.005) with an average duration of care of 129.9 days (p < 0.001) among IE patients. Seven IE (50%) had serious complications that required subsequent revision while no LDF patients required additional procedures. Patient overall satisfaction and esthetics results were also superior in the LDF group at six months. CONCLUSION: In patients who want to reconstructively rescue and salvage their severely infected or exposed breast implant, the LDF offers an entirely autologous solution. LDF reconstruction in this setting allows patients to avoid an extended duration of care, reduces their risk of complications, and preserves the reconstructive process. LEVEL OF EVIDENCE III: The journal asks authors to assign a level of evidence to each article. For a complete description of Evidence-Based Medicine ratings, see the Table of Contents or the online Instructions for Authors at www.springer.com/00266 .

5.
Mult Scler ; : 13524585241247785, 2024 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-38751221

RESUMO

BACKGROUND: Conventional magnetic resonance imaging (MRI) does not account for all disability in multiple sclerosis. OBJECTIVE: The objective was to assess the ability of graph metrics from diffusion-based structural connectomes to explain motor function beyond conventional MRI in early demyelinating clinically isolated syndrome (CIS). METHODS: A total of 73 people with CIS underwent conventional MRI, diffusion-weighted imaging and clinical assessment within 3 months from onset. A total of 28 healthy controls underwent MRI. Structural connectomes were produced. Differences between patients and controls were explored; clinical associations were assessed in patients. Linear regression models were compared to establish relevance of graph metrics over conventional MRI. RESULTS: Local efficiency (p = 0.045), clustering (p = 0.034) and transitivity (p = 0.036) were reduced in patients. Higher assortativity was associated with higher Expanded Disability Status Scale (EDSS) (ß = 74.9, p = 0.026) scores. Faster timed 25-foot walk (T25FW) was associated with higher assortativity (ß = 5.39, p = 0.026), local efficiency (ß = 27.1, p = 0.041) and clustering (ß = 36.1, p = 0.032) and lower small-worldness (ß = -3.27, p = 0.015). Adding graph metrics to conventional MRI improved EDSS (p = 0.045, ΔR2 = 4) and T25FW (p < 0.001, ΔR2 = 13.6) prediction. CONCLUSION: Graph metrics are relevant early in demyelination. They show differences between patients and controls and have relationships with clinical outcomes. Segregation (local efficiency, clustering, transitivity) was particularly relevant. Combining graph metrics with conventional MRI better explained disability.

6.
Front Bioeng Biotechnol ; 12: 1328504, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38562669

RESUMO

Introduction: The role of Adipose-derived mesenchymal stem cells (AD-MSCs) in skin wound healing remains to be fully characterized. This study aims to evaluate the regenerative potential of autologous AD-MSCs in a non-healing porcine wound model, in addition to elucidate key miRNA-mediated epigenetic regulations that underlie the regenerative potential of AD-MSCs in wounds. Methods: The regenerative potential of autologous AD-MSCs was evaluated in porcine model using histopathology and spatial frequency domain imaging. Then, the correlations between miRNAs and proteins of AD-MSCs were evaluated using an integration analysis in primary human AD-MSCs in comparison to primary human keratinocytes. Transfection study of AD-MSCs was conducted to validate the bioinformatics data. Results: Autologous porcine AD-MSCs improved wound epithelialization and skin properties in comparison to control wounds. We identified 26 proteins upregulated in human AD-MSCs, including growth and angiogenic factors, chemokines and inflammatory cytokines. Pathway enrichment analysis highlighted cell signalling-associated pathways and immunomodulatory pathways. miRNA-target modelling revealed regulations related to genes encoding for 16 upregulated proteins. miR-155-5p was predicted to regulate Fibroblast growth factor 2 and 7, C-C motif chemokine ligand 2 and Vascular cell adhesion molecule 1. Transfecting human AD-MSCs cell line with anti-miR-155 showed transient gene silencing of the four proteins at 24 h post-transfection. Discussion: This study proposes a positive miR-155-mediated gene regulation of key factors involved in wound healing. The study represents a promising approach for miRNA-based and cell-free regenerative treatment for difficult-to-heal wounds. The therapeutic potential of miR-155 and its identified targets should be further explored in-vivo.

7.
Cureus ; 16(3): e56352, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38633951

RESUMO

Thalassemia is known to induce extramedullary hematopoiesis (EMH), which is a compensatory mechanism in which the body forms blood cells outside the bone marrow. While EMH typically affects organs such as the spleen and liver, there are rare instances where it leads to spinal cord compression (SCC) in the epidural space. A 31-year-old male patient with transfusion-dependent beta thalassemia presented with numbness and bilateral limb weakness due to EMH. Neurological examination revealed increased tone in both legs, reduced power, loss of crude touch and pain sensation, and increased deep tendon reflexes. Magnetic resonance imaging (MRI) indicated a lobulated soft tissue structure in the posterior dural intrathecal space causing SCC. Laminectomy of the T2-T8 vertebrae was done, after which the lesion was identified and completely removed. Post-surgery, significant neurological improvements were observed in both motor and sensory functions. Thalassemia patients presenting with symptoms of SCC should be investigated for the presence of epidural EMH. Treatment options include decompressive surgery, blood transfusions, hydroxyurea, and radiotherapy.

9.
Mult Scler ; 30(6): 674-686, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38646958

RESUMO

BACKGROUND: Optic neuritis (ON) is a common feature of inflammatory demyelinating diseases (IDDs) such as multiple sclerosis (MS), aquaporin 4-antibody neuromyelitis optica spectrum disorder (AQP4 + NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). However, the involvement of the optic chiasm (OC) in IDD has not been fully investigated. AIMS: To examine OC differences in non-acute IDD patients with (ON+) and without ON (ON-) using magnetisation transfer ratio (MTR), to compare differences between MS, AQP4 + NMOSD and MOGAD and understand their associations with other neuro-ophthalmological markers. METHODS: Twenty-eight relapsing-remitting multiple sclerosis (RRMS), 24 AQP4 + NMOSD, 28 MOGAD patients and 32 healthy controls (HCs) underwent clinical evaluation, MRI and optical coherence tomography (OCT) scan. Multivariable linear regression models were applied. RESULTS: ON + IDD patients showed lower OC MTR than HCs (28.87 ± 4.58 vs 31.65 ± 4.93; p = 0.004). When compared with HCs, lower OC MTR was found in ON + AQP4 + NMOSD (28.55 ± 4.18 vs 31.65 ± 4.93; p = 0.020) and MOGAD (28.73 ± 4.99 vs 31.65 ± 4.93; p = 0.007) and in ON- AQP4 + NMOSD (28.37 ± 7.27 vs 31.65 ± 4.93; p = 0.035). ON+ RRMS had lower MTR than ON- RRMS (28.87 ± 4.58 vs 30.99 ± 4.76; p = 0.038). Lower OC MTR was associated with higher number of ON (regression coefficient (RC) = -1.15, 95% confidence interval (CI) = -1.819 to -0.490, p = 0.001), worse visual acuity (RC = -0.026, 95% CI = -0.041 to -0.011, p = 0.001) and lower peripapillary retinal nerve fibre layer (pRNFL) thickness (RC = 1.129, 95% CI = 0.199 to 2.059, p = 0.018) when considering the whole IDD group. CONCLUSION: OC microstructural damage indicates prior ON in IDD and is linked to reduced vision and thinner pRNFL.


Assuntos
Aquaporina 4 , Autoanticorpos , Esclerose Múltipla Recidivante-Remitente , Glicoproteína Mielina-Oligodendrócito , Neuromielite Óptica , Quiasma Óptico , Tomografia de Coerência Óptica , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Aquaporina 4/imunologia , Autoanticorpos/sangue , Imageamento por Ressonância Magnética , Esclerose Múltipla Recidivante-Remitente/diagnóstico por imagem , Esclerose Múltipla Recidivante-Remitente/imunologia , Esclerose Múltipla Recidivante-Remitente/patologia , Glicoproteína Mielina-Oligodendrócito/imunologia , Neuromielite Óptica/imunologia , Neuromielite Óptica/diagnóstico por imagem , Neuromielite Óptica/patologia , Quiasma Óptico/patologia , Quiasma Óptico/diagnóstico por imagem , Neurite Óptica/imunologia , Neurite Óptica/diagnóstico por imagem , Neurite Óptica/patologia , Adulto Jovem
10.
BMC Ophthalmol ; 24(1): 164, 2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38622551

RESUMO

PURPOSE: To analyze the clinicopathological characteristics and surgical outcomes of patients with Wolfring gland ductal cysts (WGDCs). METHODS: A retrospective, consecutive, interventional comparative case series was performed over a period of 7 years. Data on demographic and clinical characteristics, pathological findings and outcomes of surgically excised cysts were collected. A comparison between the transconjunctival and transcutaneous approaches was also assessed. RESULTS: Forty-eight patients (48 eyelids) were included in the final analysis. The most common presenting symptom was painless eyelid swelling (81.3%). The median symptom duration was 11.5 months (IQR, 18.25). The upper eyelid was involved in 31 (64.6%) patients, 29/31 of whom had cysts in a medial or centromedial location. Forty-five (93.8%) cysts were bluish gray and transilluminable with clear contents on lid eversion and a median largest dimension of 22 mm (IQR, 8). A transverse conjunctival fibrotic band was observed along the proximal tarsal border in the cyst area in all patients. Signs of chronic trachoma were noted in 38 (79.2%) patients. Preoperative significant ptosis was present in 28/31 (90.3%) of the upper eyelid cysts. Thirty cysts (62.5%) were excised through the skin, and 18 cysts (37.5%) were excised transconjunctivally. Intraoperative cyst rupture, the need for conjunctival grafting and postoperative residual upper lid ptosis were significantly greater in the transconjunctival group (p = 0.009, p < 0.001, and p = 0.016, respectively). CONCLUSION: The present study highlights the clinicopathological characteristics of a relatively large series of surgically excised WGDCs. Transcutaneous excision of WGDCs has proven to be an effective treatment with fewer adverse sequelae than the transconjunctival approach.


Assuntos
Blefaroptose , Cistos , Humanos , Estudos Retrospectivos , Pálpebras/cirurgia , Pálpebras/patologia , Resultado do Tratamento , Cistos/cirurgia , Cistos/patologia
11.
Chem Biol Interact ; 393: 110957, 2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38513929

RESUMO

Huntington's disease (HD) is an inheritable autosomal-dominant disorder that targets mainly the striatum. 3-Nitropropionic acid (3-NP) induces obvious deleterious behavioral, neurochemical, and histological effects similar to the symptoms of HD. Our study aimed to examine the neuroprotective activity of tropisetron, an alpha-7 neuronal nicotinic acetylcholine receptor (α-7nAChR) agonist, against neurotoxic events associated with 3-NP-induced HD in rats. Forty-eight rats were randomly allocated into four groups. Group I received normal saline, while Groups II, III and IV received 3-NP for 2 weeks. In addition, Group III and IV were treated with tropisetron 1 h after 3-NP administration. Meanwhile, Group IV received methyllycaconitine (MLA), an α-7nAChR antagonist, 30 min before tropisetron administration. Treatment with tropisetron improved motor deficits as confirmed by the behavioral tests and restored normal histopathological features of the striatum. Moreover, tropisetron showed an anti-oxidant activity via increasing the activities of SDH and HO-1 as well as Nrf2 expression along with reducing MDA level. Tropisetron also markedly upregulated the protein expression of p-PI3K and p-Akt which in turn hampered JAK2/NF-κB inflammatory cascade. In addition, tropisetron showed an anti-apoptotic activity through boosting the expression of Bcl-2 and reducing Bax expression and caspase-3 level. Interestingly, all the aforementioned effects of tropisetron were blocked by pre-administration of MLA, which confirms that such neuroprotective effects are mediated via activating of α-7nAChR. In conclusion, tropisetron showed a neuroprotective activity against 3-NP-induced HD via activating PI3K/Akt signaling and suppressing JAK2/NF-κB inflammatory axis. Thus, repositioning of tropisetron could represent a promising therapeutic strategy in management of HD.


Assuntos
Doença de Huntington , Fármacos Neuroprotetores , Receptores Nicotínicos , Animais , Ratos , Receptor Nicotínico de Acetilcolina alfa7/metabolismo , Doença de Huntington/tratamento farmacológico , Fármacos Neuroprotetores/farmacologia , Fármacos Neuroprotetores/uso terapêutico , NF-kappa B/metabolismo , Nitrocompostos/toxicidade , Fosfatidilinositol 3-Quinases/metabolismo , Propionatos/farmacologia , Proteínas Proto-Oncogênicas c-akt/metabolismo , Receptores Nicotínicos/metabolismo , Transdução de Sinais , Tropizetrona/uso terapêutico
13.
Ann Med Surg (Lond) ; 86(2): 1003-1011, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38333310

RESUMO

Introduction: This meta-analysis aimed to compare the efficacy of preservation of the intercostobrachial nerve (ICBN) versus its dissection for patients who underwent breast surgery. Methods: The authors searched Web of Science, PubMed, Cochrane CENTRAL, and Scopus from inception until March 2023. Records were screened for eligible studies, and all relevant outcomes were pooled as an odds ratio (OR) with the corresponding 95% CI in the meta-analysis models using RevMan version 5.4. Results: These results from 11 studies (1021 patients) favored preservation of the ICBN over its dissection in terms of anaesthesia and hypaesthesia [OR 0.50, (95% CI, 0.31-0.82); P = 0.006] and [OR 0.33, (95% CI, 0.16-0.68); P = 0.003], respectively. Whereas the overall effect favored ICBN dissection over preservation in the case of hyperaesthesia [OR 4.34, (95% CI, 1.43-13.15); P = 0.01]. Conversely, no significant variance was detected between the two groups in terms of pain [OR 0.68, (95% CI, 0.28-1.61) P = 0.38], paraesthesia [OR 0.88, (95% CI, 0.49-1.60); P = 0.68], and analgesia [OR 1.46, (95% CI, 0.05-45.69); P = 0.83]. Conclusion: This meta-analysis revealed that the preservation of the ICBN has a significant effect on the disturbance of sensory parameters of hypaesthesia and anaesthesia when compared to its dissection. Further studies with larger sample sizes are recommended to precisely compare both techniques on a wider range of parameters.

14.
Cardiol Rev ; 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38299806

RESUMO

This study aims to compare the effectiveness of leadless pacemakers (LPs) and transvenous pacemakers and to examine the safety of both methods. We included patients undergoing single-chamber pacemaker implantation, either LP or TVP. Our outcomes were successful implantation rate, major complication, vascular injury, tamponade, and pneumothorax. We performed a double-arm analysis comparing LP versus TVP, with risk ratio (RR) and 95% confidence interval. A total of 10 studies were included in this meta-analysis. Regarding efficacy endpoints, RR revealed no significant difference between the LP and transvenous pacemaker groups in terms of successful rate of implantation (RR = 1.00; P = 0.77). Regarding safety outcomes, LP experienced lower incidence of major complications (RR = 0.47; P = 0.01), infection (RR = 0.24; P = 0.001), and tamponade (RR = 0.36; P = 0.01). There was no significant difference between both groups regarding pneumothorax (RR = 0.35; P = 0.22) and vascular injury (RR = 1.55; P = 0.25). The study findings suggest that both LPs and TVPs have similar effectiveness. Moreover, the incidences of pneumothorax, vascular injuries, and major complications were found to be comparable between the 2 methods. However, LPs were found to have lower rates of infection and tamponade.

15.
Sci Rep ; 14(1): 4548, 2024 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-38402330

RESUMO

The integration of microgrids into the existing power system framework enhances the reliability and efficiency of the utility grid. This manuscript presents an innovative mathematical paradigm designed for the optimization of both the structural and operational aspects of a grid-connected microgrid, leveraging the principles of Demand-Side Management (DSM). The focus of this work lies in a comprehensive exploration of the implications brought about by the Renewable Generation-Based Dynamic Pricing Demand Response (RGDP-DR) mechanism, particularly in terms of its influence on the optimal microgrid configuration, considering perspectives from end-users and the utility entity. This inquiry is rooted in a holistic assessment that encompasses technical and economic performance benchmarks. The RGDP-induced DR framework adeptly addresses the needs of the consumer base, showcasing notable efficiency and economic feasibility. To address the intricate nonlinear optimization challenge at hand, we employ an evolutionary algorithm named the "Dandelion Algorithm" (DA). A rigorous comparative study is conducted to evaluate the efficacy of four optimization techniques, affirming the supremacy of the proposed DA. Within this discourse, the complexity of microgrid sizing is cast as a dual-objective optimization task. The twin objectives involve minimizing the aggregate annual outlay and reducing emissions. The results of this endeavor unequivocally endorse the superiority of the DA over its counterparts. The DA demonstrates exceptional proficiency in orchestrating the most cost-effective microgrid and consumer invoice, surpassing the performance of alternative optimization methodologies.

16.
Cureus ; 16(1): e52834, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38406073

RESUMO

Giant cell tumors (GCTs), typically benign, predominantly manifest in individuals aged 20-40, with the most common locations being the metaphysis or epiphysis of the femur or tibia. Infrequently, they may occur in the skull. Despite their benign nature, these tumors can exhibit aggressive behavior and have the potential to metastasize. In the case at hand, a 20-year-old female presented to the hospital with a progressively enlarging right frontal swelling over the preceding months. The patient reported intermittent headaches, alleviated by analgesics, and exhibited a normal neurological examination along with a Glasgow Coma Scale (GCS) score of 15 out of 15. Imaging revealed an expansive soft tissue mass in the right frontal bone involving both inner and outer tables. Surgical intervention was pursued through a right frontal incision followed by tumor excision. Histopathological examination of the specimen confirmed the presence of a GCT. The limited existing literature on this topic highlights the need for further research and insights into effective strategies. This case contributes to addressing this gap in knowledge, offering valuable information to enhance our understanding of the challenges associated with similar rare cases and improve patient outcomes.

17.
Saudi J Biol Sci ; 31(3): 103932, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38314310

RESUMO

Most clinical miscarriages often occur throughout the first trimester of pregnancy, with fetal chromosomal abnormalities being identified as the primary reason for such occurrences. The objective is to analyze the fetal chromosomal aberrations in the product of conception among Iraqi patients suffering from recurrent miscarriages. The cross-sectional study was performed on 60 cases of products of conception in women suffering from multiple miscarriages, obtained from Department of Obstetrics and Gynecology is located in Ramadi Teaching Hospital for Child and Maternity, as well as other Private Clinics in the Ramadi City. Long-term culture of conventional cytogenetic analysis using the G-banding technique was employed to determine the chromosomal disorder of fetal tissue part or villus samples. Fetal chromosomal abnormalities were detected in 86.7 %. Numerical chromosomal abnormalities were revealed in 98.1 %, while structural abnormalities were detected in 1.9 %. Additionally, the commonest gestation loss occurs in parents under 35 years in the first trimester (92.3 %). Trisomy 21 was the most frequent (46.2 %) in gestational loss. Fetal chromosomal abnormalities have been linked with gestational loss in Iraqi couples. Therefore, it is recommended that cytogenetic analysis should be performed to identify the genetic cause of recurrent miscarriage. This is important for providing appropriate genetic counseling and educating couples about the risk of future pregnancies.

20.
Front Mol Biosci ; 11: 1342011, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38375508

RESUMO

Reprogramming human somatic cells into a pluripotent state, achieved through the activation of well-defined transcriptional factors known as OSKM factors, offers significant potential for regenerative medicine. While OSKM factors are a robust reprogramming method, efficiency remains a challenge, with only a fraction of cells undergoing successful reprogramming. To address this, we explored genes related to genomic integrity and cellular survival, focusing on iPSCs (A53T-PD1) that displayed enhanced colony stability. Our investigation had revealed three candidate genes CCN3, POSTN, and PTHLH that exhibited differential expression levels and potential roles in iPSC stability. Subsequent analyses identified various protein interactions for these candidate genes. POSTN, significantly upregulated in A53T-PD1 iPSC line, showed interactions with extracellular matrix components and potential involvement in Wnt signaling. CCN3, also highly upregulated, demonstrated interactions with TP53, CDKN1A, and factors related to apoptosis and proliferation. PTHLH, while upregulated, exhibited interactions with CDK2 and genes involved in cell cycle regulation. RT-qPCR validation confirmed elevated CCN3 and PTHLH expression in A53T-PD1 iPSCs, aligning with RNA-seq findings. These genes' roles in preserving pluripotency and cellular stability require further exploration. In conclusion, we identified CCN3, POSTN, and PTHLH as potential contributors to genomic integrity and pluripotency maintenance in iPSCs. Their roles in DNA repair, apoptosis evasion, and signaling pathways could offer valuable insights for enhancing reprogramming efficiency and sustaining pluripotency. Further investigations are essential to unravel the mechanisms underlying their actions.

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