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    Factor V deficiency with a unique genetic mutation presenting as post-circumcision bleeding in a neonate, A-case-report
    (ELSEVIER, 2022-05-06) Fajr M A Sarhan ; Ameer Al-Jasim ; Raghad H. M. Alwahsh ; Islam I.A. Mansour
    Introduction and importance: Factor V deficiency is a rare bleeding disorder with varying presentations from minor mucosal bleeding to a life-threatening postoperative bleed. Currently, treatment is mainly supportive with Fresh Frozen Plasma. Case presentation: A previously healthy 14-day-old male presented with an uncontrollable bleeding following a circumcision. Physical examination was normal. Investigations showed hemoglobin 15.5 g/dl, platelets 409000, Prothrombin Time 57 seconds, Partial-Thromboplastin-Time 120 seconds. Mixing study corrected the coagulation profile, and the factor assay showed factor V activity of 11%. Genetic testing showed a pathogenic frameshift mutation in the F5 gene p.(P927Lfs*7) causing premature termination after 7 codons thus the diagnosis of Factor V deficiency was made. Clinical discussion: In this case, factor V deficiency presented as post-circumcision bleeding. For diagnosis, increased PT and PTT with normal thrombin time increases the index of suspicion for a bleeding disorder. Further testing with coagulation factors assays is required to make the final diagnosis. Factor V deficient patients undergoing surgery should be adequately prepared, and factor V activity level should be maintained at least at 25% of the normal activity level. The patient level prior to the circumcision was unknown, which led to the life threatening bleed. Conclusions: One of the early presentations of factor V deficiency is a post-circumcision bleeding. Adequate preparation with laboratory tests before circumcision is therefore recommended, especially for high-risk individuals. More than 100 genetic mutations were detected; frameshift mutation involving F5 gene p.(P927Lfs*7) was seen in our case.
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    Association of DNA methylation and genetic variations of the APOE gene with the risk of diabetic dyslipidemia
    (PubMed, 2022-05-27) Suheir Ereqat ; Stephane Cauchi ; Khaled Eweidat ; Muawiyah Elqadi ; Manal Ghatass ; Anas Sabarneh ; Abedelmajeed Nasereddin
    Apolipoprotein E (APOE) is a key regulator of lipoprotein metabolism, and consequently, affects the plasma and tissue lipid contents. The aim of the present study was to investigate the parallel effects of APOE genetic variants and promoter methylation levels of six CpGs on the risk of diabetic dyslipidemia. A total of 204 Palestinian type 2 diabetes (T2D) patients (mean age ± SD: 62.7±10.2) were enrolled in the present study (n=96 with dyslipidemia and n=108 without dyslipidemia). Next generation sequencing was performed to analyze five single nucleotide polymorphisms: Two variants rs7412 and rs429358 that determine APOE ε alleles, and three variants in the promoter region (rs769446, rs449647, and rs405509). For all subjects, the most common genotype was ε3/ε3 (79.4%). No statistical differences were observed in the APOE ε polymorphisms and the three promoter variants among T2D patients with and without dyslipidemia (P>0.05). A comparison of lipid parameters between ε3/ε3 subjects and ε4 carriers in both groups revealed no significant differences in the mean values of LDL-C, HDL-C, TG, and TC levels (P>0.05). Six CpG sites in the APOE promoter on chromosome 19:44905755-44906078 were identified, and differential DNA methylation in these CpGs were observed between the study groups. Logistic regression analysis revealed a significant association of DNA methylation level at the six CpGs with an increased risk of diabetic dyslipidemia (odds ratio, 1.038; 95% confidence interval, 1.012-1.064; P=0.004). In conclusion, the present study revealed that DNA methylation levels in six CpGs in the APOE promoter region was associated with the risk of diabetic dyslipidemia independently of the APOE ε4 variant which could be a potential therapeutic target to reverse the methylation of the APOE promoter.
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    Gastric wall abscess: A case report and literature review
    (ELSEVIER, 2022-03-17) Qutaiba Qafisheh ; Osama N. Dukmak ; Amer Y. Abu Rumaila ; Mohammed Emar ; Fahmi Jubran ; Hazem Ashhab
    Background: gastric wall abscess is a rare pathology that is often hard to diagnose and is often associated with poor prognosis. Herein, we report a case of Gastric wall abscess that we managed to treat by endoscopy without the need for surgery which is the usual treatment of choice. Clinical data: a 50 years old female presented with Epigastric pain. Complete blood count revealed Leukocytosis, neutrophilia and an elevated C-reactive protein. Abdominal CT scan showed a small hypodense area with rim wall enhancement in the pyloric canal. Gastroscopy and endoscopic ultrasound guided drainage was performed and the abscess was drained, content sent for pathology evaluation. Patient was discharged home on antibiotics. Conclusion: Gastric wall abscess is a rare but important differential diagnosis of Epigastric pain. Endoscopic Ultrasound is the modality of choice to diagnose it. Endoscopic drainage is associated with reduced mortality and morbidity (Soga et al., 2014) [2].
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    A Mathematical-Based Model for Estimating the Path Duration of the DSDV Routing Protocol in MANETs
    (MDPI, 2022-05-12) Saeed Salah ; Raid Zaghal ; Mada Abdeljawad
    Mobile Ad Hoc Networks (MANETs) are kind of wireless networks where the nodes move in decentralized environments with a highly dynamic infrastructure. Many well-known routing protocols have been proposed, with each having its own design mechanism and its own strengths and weaknesses and most importantly, each protocol being mainly designed for specific applications and scenarios. Most of the research studies in this field used simulation testbeds to analyze routing protocols. Very few contributions suggested the use of analytical studies and mathematical approaches to model some of the existing routing protocols. In this research, we have built a comprehensive mathematical-based model to analyze the Destination-Sequenced Distance Vector protocol (DSDV), one of the main widely deployed proactive protocols and studied its performance on estimating the path duration based on the concepts of the probability density function and the expected values to find the best approximation values in real scenarios. We have tested the validity of the proposed model using simulation scenarios implemented by the Network Simulator tool (NS3). The results extracted from both the mathematical model and the simulation have shown that the path duration is inversely proportional to both the speed of the node and the hop count. Furthermore, it had shown that the path duration estimated from the DSDV protocol is less than the actual path duration, due to the implementation of the settling time concept and keeping the “periodic routes’ update” parameter at a constant level, despite the fact that the node’s speed reduces the effective path utilization.
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    Cerebellar liponeurocytoma, a rare tumor: Case report and review of the literature
    (Elsevier, 2021-04-30) Abuzneid, Yousef ; Alzeerelhouseini, Hussam ; Shkokani, Sundus ; Aqel, Wafa ; Aldarawish, Asad
    Introduction: Cerebellar liponeurocytoma is a rare tumor of the central nervous system occurring mainly in the posterior fossa, which shows neuronal and variable astrocytic differentiation, along with foci of lipomatous differentiation. Case presentation: Herein, we describe a 50-year-old female patient who presented to the hospital complaining of headache, tinnitus, and vertigo with positive cerebellar signs. MRI revealed a left cerebellar tumor. After tumor resection, histological examination and immunohistochemistry were done and the diagnosis of cerebellar liponeurocytoma was confirmed. Discussion: Liponeurocytoma may be mistaken as a medulloblastoma with lipidized cells or a lipomatous ependymoma. Histopathological examination, reinforced by immunohistochemistry and electron microscopy, are required to distinguish between these entities. The rarity of this tumor and paucity of pertinent information regarding its biological potential and natural history have resulted in the application of various treatment modalities. Conclusion: Liponeurocytoma is a rare benign tumor with cerebellum is the typical site for it. Although surgery is the treatment of choice; however, postoperative radiotherapy may have a role in case of incomplete tumor resection or recurrence.