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  • 1
    Online Resource
    Online Resource
    Aspartame, a Synthetic Dipeptide Mediated Biochemical and Histopathological Alterations in Hepato-nephric Tissues of Mice and Pharmaceutical Intervention by Sesame Oil
    Springer Science and Business Media LLC ; 2023
    In:  International Journal of Peptide Research and Therapeutics Vol. 29, No. 6 ( 2023-10-03)
    Details
    In: International Journal of Peptide Research and Therapeutics, Springer Science and Business Media LLC, Vol. 29, No. 6 ( 2023-10-03)
    Type of Medium: Online Resource
    ISSN: 1573-3904
    URL: Article
    DOI: 10.1007/s10989-023-10564-9
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 2192632-3
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  • 2
    Online Resource
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    The implication of CRISPR/Cas9 genome editing technology in combating human oncoviruses
    Wiley ; 2019
    In:  Journal of Medical Virology Vol. 91, No. 1 ( 2019-01), p. 1-13
    Details
    In: Journal of Medical Virology, Wiley, Vol. 91, No. 1 ( 2019-01), p. 1-13
    Abstract: It is evidenced that 20% of all tumors in humans are caused by oncoviruses, including human papilloma viruses, Epstein‐Barr virus, Kaposi sarcoma virus, human polyomaviruses, human T‐lymphotrophic virus‐1, and hepatitis B and C viruses. Human immunodeficiency virus is also involved in carcinogenesis, although not directly, but by facilitating the infection of many oncoviruses through compromising the immune system. Being intracellular parasites with the property of establishing latency and integrating into the host genome, these viruses are a therapeutic challenge for biomedical researchers. Therefore, strategies able to target nucleotide sequences within episomal or integrated viral genomes are of prime importance in antiviral or anticancerous armamentarium. Recently, clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR‐associated protein 9 (Cas9) has emerged as a powerful genome editing tool. Standing out as a precise and efficient oncoviruses method, it has been extensively applied in recent experimental ventures in the field of molecular medicine, particularly in combating infections including tumor inducing viruses. This review is aimed at collating the experimental and clinical advances in CRISPR/Cas9 technology in terms of its applications against oncoviruses. Primarily, it will focus on the application of CRISPR/Cas9 in combating tumor viruses, types of mechanisms targeted, and the significant outcomes till date. The technical pitfalls of the CRISPR/Cas9 and the comparative approaches in evaluating this technique with respect to other available alternatives are also described briefly. Furthermore, the review also discussed the clinical aspects and the ethical, legal, and social issues associated with the use of CRISPR/Cas9.
    Type of Medium: Online Resource
    ISSN: 0146-6615 , 1096-9071
    URL: Issue
    URL: Article
    DOI: 10.1002/jmv.v91.1
    DOI: 10.1002/jmv.25292
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2019
    detail.hit.zdb_id: 752392-0
    detail.hit.zdb_id: 1475090-9
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  • 3
    Online Resource
    Online Resource
    An Efficient Deep Learning-Based Skin Cancer Classifier for an Imbalanced Dataset
    MDPI AG ; 2022
    In:  Diagnostics Vol. 12, No. 9 ( 2022-08-31), p. 2115-
    Details
    In: Diagnostics, MDPI AG, Vol. 12, No. 9 ( 2022-08-31), p. 2115-
    Abstract: Efficient skin cancer detection using images is a challenging task in the healthcare domain. In today’s medical practices, skin cancer detection is a time-consuming procedure that may lead to a patient’s death in later stages. The diagnosis of skin cancer at an earlier stage is crucial for the success rate of complete cure. The efficient detection of skin cancer is a challenging task. Therefore, the numbers of skilful dermatologists around the globe are not enough to deal with today’s healthcare. The huge difference between data from various healthcare sector classes leads to data imbalance problems. Due to data imbalance issues, deep learning models are often trained on one class more than others. This study proposes a novel deep learning-based skin cancer detector using an imbalanced dataset. Data augmentation was used to balance various skin cancer classes to overcome the data imbalance. The Skin Cancer MNIST: HAM10000 dataset was employed, which consists of seven classes of skin lesions. Deep learning models are widely used in disease diagnosis through images. Deep learning-based models (AlexNet, InceptionV3, and RegNetY-320) were employed to classify skin cancer. The proposed framework was also tuned with various combinations of hyperparameters. The results show that RegNetY-320 outperformed InceptionV3 and AlexNet in terms of the accuracy, F1-score, and receiver operating characteristic (ROC) curve both on the imbalanced and balanced datasets. The performance of the proposed framework was better than that of conventional methods. The accuracy, F1-score, and ROC curve value obtained with the proposed framework were 91%, 88.1%, and 0.95, which were significantly better than those of the state-of-the-art method, which achieved 85%, 69.3%, and 0.90, respectively. Our proposed framework may assist in disease identification, which could save lives, reduce unnecessary biopsies, and reduce costs for patients, dermatologists, and healthcare professionals.
    Type of Medium: Online Resource
    ISSN: 2075-4418
    URL: Article
    DOI: 10.3390/diagnostics12092115
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2662336-5
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  • 4
    Online Resource
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    Defining the clinical validity of genes reported to cause pulmonary arterial hypertension
    Elsevier BV ; 2023
    In:  Genetics in Medicine Vol. 25, No. 11 ( 2023-11), p. 100925-
    Details
    In: Genetics in Medicine, Elsevier BV, Vol. 25, No. 11 ( 2023-11), p. 100925-
    Type of Medium: Online Resource
    ISSN: 1098-3600
    URL: Article
    DOI: 10.1016/j.gim.2023.100925
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2023
    detail.hit.zdb_id: 2063504-7
    SSG: 12
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  • 5
    Online Resource
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    Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension
    Springer Science and Business Media LLC ; 2022
    In:  Respiratory Research Vol. 23, No. 1 ( 2022-12)
    Details
    In: Respiratory Research, Springer Science and Business Media LLC, Vol. 23, No. 1 ( 2022-12)
    Abstract: A genetic predisposition can lead to the rare disease pulmonary arterial hypertension (PAH). Most mutations have been identified in the gene BMPR2 in heritable PAH. However, as of today 15 further PAH genes have been described. The exact prevalence across these genes particularly in other PAH forms remains uncertain. We present the distribution of mutations across PAH genes identified at the largest German referral centre for genetic diagnostics in PAH over a course of  〉  3 years. Methods Our PAH-specific gene diagnostics panel was used to sequence 325 consecutive PAH patients from March 2017 to October 2020. For the first year the panel contained thirteen PAH genes: ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNA5, KCNK3, KLF2, SMAD4, SMAD9 and TBX4. T hese were extended by the three genes ATP13A3, AQP1 and SOX17 from March 2018 onwards following the genes’ discovery. Results A total of 79 mutations were identified in 74 patients (23%). Of the variants 51 (65%) were located in the gene BMPR2 while the other 28 variants were found in ten further PAH genes. We identified disease-causing variants in the genes AQP1, KCNK3 and SOX17 in families with at least two PAH patients . Mutations were not only detected in patients with heritable and idiopathic but also with associated PAH. Conclusions Genetic defects were identified in 23% of the patients in a total of 11 PAH genes. This illustrates the benefit of the specific gene panel containing all known PAH genes.
    Type of Medium: Online Resource
    ISSN: 1465-993X
    URL: Article
    DOI: 10.1186/s12931-022-01987-x
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 2041675-1
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  • 6
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    Online Resource
    Prognostic impact of hypochromic erythrocytes in patients with pulmonary arterial hypertension
    Springer Science and Business Media LLC ; 2021
    In:  Respiratory Research Vol. 22, No. 1 ( 2021-12)
    Details
    In: Respiratory Research, Springer Science and Business Media LLC, Vol. 22, No. 1 ( 2021-12)
    Abstract: Iron deficiency affects up to 50% of patients with pulmonary arterial hypertension (PAH) but iron markers such as ferritin and serum iron are confounded by several non-disease related factors like acute inflammation and diet. The aim of this study was to identify a new marker for iron deficiency and clinical outcome in PAH patients. Methods In this single-center, retrospective study we assessed indicators of iron status and clinical parameters specifying the time to clinical worsening (TTCW) and survival in PAH patients at time of initial diagnosis and at 1-year follow-up using univariable and multivariable analysis. Results In total, 150 patients were included with an invasively confirmed PAH and complete data on iron metabolism. The proportion of hypochromic erythrocytes  〉  2% at initial diagnosis was identified as an independent predictor for a shorter TTCW (p = 0.0001) and worse survival (p = 0.002) at initial diagnosis as well as worse survival (p = 0.016) at 1-year follow-up. Only a subset of these patients (64%) suffered from iron deficiency. Low ferritin or low serum iron neither correlated with TTCW nor survival. Severe hemoglobin deficiency at baseline was significantly associated with a shorter TTCW (p = 0.001). Conclusions The presence of hypochromic erythrocytes  〉  2% was a strong and independent predictor of mortality and shorter TTCW in this cohort of PAH patients. Thus, it can serve as a valuable indicator of iron homeostasis and prognosis even in patients without iron deficiency or anemia. Further studies are needed to confirm the results and to investigate therapeutic implications.
    Type of Medium: Online Resource
    ISSN: 1465-993X
    URL: Article
    DOI: 10.1186/s12931-021-01884-9
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 2041675-1
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  • 7
    Online Resource
    Online Resource
    Genetische Grundlagen, Beratung und Testung bei Patienten mit pulmonalarterieller Hypertonie
    Georg Thieme Verlag KG ; 2023
    In:  Aktuelle Kardiologie Vol. 12, No. 01 ( 2023-02), p. 28-33
    Details
    In: Aktuelle Kardiologie, Georg Thieme Verlag KG, Vol. 12, No. 01 ( 2023-02), p. 28-33
    Abstract: Die pulmonalarterielle Hypertonie (PAH) ist eine seltene und schwere Erkrankung, die durch einen erhöhten pulmonalarteriellen Mitteldruck und einen erhöhten pulmonalvaskulären Widerstand charakterisiert ist. Sie hat in vielen Fällen eine genetische Ursache, so findet man bei 85% der hereditären und bei ca. 15% der idiopathischen Fälle pathogene Varianten in PAH-spezifischen Genen. Am häufigsten ist das Gen des Bone Morphogenetic Protein Receptor Type 2 (BMPR2) betroffen. Es wurden jedoch in den letzten Jahren 17 weitere Gene größtenteils aus dem Signalweg des BMPR2-Gens entdeckt, die bei der diagnostischen Abklärung mit untersucht werden sollten. Dieser Artikel beschäftigt sich mit den molekulargenetischen Grundlagen der Erkrankung, dem Stellenwert der genetischen Beratung und Testung in den neuen Leitlinien sowie mit den wichtigsten Genen und den Verfahren, mit welchen man diese auf pathogene Varianten untersuchen kann. Die genetische Untersuchung kann einen Beitrag zur korrekten Diagnosestellung und zur Prognoseverbesserung der Patienten leisten und sollte auch gesunden Familienmitgliedern angeboten werden.
    Type of Medium: Online Resource
    ISSN: 2193-5203 , 2193-5211
    URL: Article
    DOI: 10.1055/a-1949-6327
    Language: German
    Publisher: Georg Thieme Verlag KG
    Publication Date: 2023
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  • 8
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    Online Resource
    RIN2 and BBS7 variants as cause of a coincidental syndrome
    Elsevier BV ; 2020
    In:  European Journal of Medical Genetics Vol. 63, No. 3 ( 2020-03), p. 103755-
    Details
    In: European Journal of Medical Genetics, Elsevier BV, Vol. 63, No. 3 ( 2020-03), p. 103755-
    Type of Medium: Online Resource
    ISSN: 1769-7212
    URL: Article
    DOI: 10.1016/j.ejmg.2019.103755
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2020
    detail.hit.zdb_id: 2186601-6
    SSG: 12
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  • 9
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    Online Resource
    Parents And Physical Therapist Perspective On Physical Therapy Goals For Children With Cerebral Palsy
    Link Medical Institute ; 2024
    In:  Journal of Health and Rehabilitation Research Vol. 4, No. 1 ( 2024-01-27), p. 285-290
    Details
    In: Journal of Health and Rehabilitation Research, Link Medical Institute, Vol. 4, No. 1 ( 2024-01-27), p. 285-290
    Abstract: Background: The objective of this qualitative study was to provide a comprehensive review of the experiences and related factors of parents with children between the ages of three and six who are diagnosed with cerebral palsy. The research examined the perspectives of guardians about the physical and/or occupational therapy provided to their child at a rehabilitation center. The current body of rehabilitation literature places emphasis on prioritizing functional objectives for children with special needs, as well as using a collaborative approach to goal-setting that is rooted in the concepts of family-centered care delivery. Objective: To find out parents' experiences with cerebral palsy (CP) child for goals and goal setting. Methodology: A qualitative study was conducted with 10 parents of children with cerebral palsy at NIRM hospital Islamabad. An inductive thematic analysis was used to identify prominent themes. Results: Three themes are revealed by analysis that represent goals useful for the parents and gave an insight into parents' experiences with processes of goal-setting in physical therapy: The themes acquired as per the data received through interview guide were as follows: 1) Physical changes of CP patient 2) Social changes (Community based) of CP patient.3) Family professional partnership 4) Therapists perspective for CP child. Conclusion: Positive parental experiences with their child's intervention led to the following outcomes: more time spent with the child, a broader perspective, increased community involvement, the opportunity to share personal experiences with other parents, improved goal setting skills among parents, and the ability to track progress. Furthermore, parents emphasize the necessity of developing trusting connections with their children in order to have open talks about the required amount of participation in goal setting, the family's values, and unique circumstances.
    Type of Medium: Online Resource
    ISSN: 2791-156X
    URL: Article
    DOI: 10.61919/jhrr.v4i1.400
    Language: Unknown
    Publisher: Link Medical Institute
    Publication Date: 2024
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