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    Wyświetlanie 1-3 z 3
    Tytuł:
    Ion channels-related diseases.
    Autorzy:
    Dworakowska, Beata
    Dołowy, Krzysztof
    Powiązania:
    https://bibliotekanauki.pl/articles/1044310.pdf
    Data publikacji:
    2000
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    nicotinic acetylcholine receptor
    cGMP-gated channel
    ion channels
    glycine receptor
    voltage-gated channels
    channel-related genetic disorders
    Opis:
    There are many diseases related to ion channels. Mutations in muscle voltage-gated sodium, potassium, calcium and chloride channels, and acetylcholine-gated channel may lead to such physiological disorders as hyper- and hypokalemic periodic paralysis, myotonias, long QT syndrome, Brugada syndrome, malignant hyperthermia and myasthenia. Neuronal disorders, e.g., epilepsy, episodic ataxia, familial hemiplegic migraine, Lambert-Eaton myasthenic syndrome, Alzheimer's disease, Parkinson's disease, schizophrenia, hyperekplexia may result from dysfunction of voltage-gated sodium, potassium and calcium channels, or acetylcholine- and glycine-gated channels. Some kidney disorders, e.g., Bartter's syndrome, policystic kidney disease and Dent's disease, secretion disorders, e.g., hyperinsulinemic hypoglycemia of infancy and cystic fibrosis, vision disorders, e.g., congenital stationary night blindness and total colour-blindness may also be linked to mutations in ion channels.
    Źródło:
    Acta Biochimica Polonica; 2000, 47, 3; 685-703
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Second branchial cleft fistula in a child with genetically confirmed branchio-oto-renal (BOR) syndrome
    Autorzy:
    Remjasz, Agnieszka
    Clarós, Pedro
    Powiązania:
    https://bibliotekanauki.pl/articles/1399630.pdf
    Data publikacji:
    2019
    Wydawca:
    Index Copernicus International
    Tematy:
    second branchial cleft fistula
    branchio-oto-renal syndrome
    BOR syndrome
    ear malformation
    neck fistula
    neck surgery
    genetic disorders
    Opis:
    Preface: Branchial cleft anomalies constitute 32% to 45% of all neck pathologies in the pediatric population. These disorders may be a part of a branchio-oto-renal (BOR) syndrome, characterized by branchial arch abnormalities, preauricular pits, hearing impairment, and various types of renal disorders. Usually, the treatment of a branchial fistula does not necessarily require extensive diagnostics before the treatment. However, in some cases, branchial cleft fistulas may occur together with other congenital disorders. A case report: The aim of this study is to present diagnostic and therapeutic difficulties in a 4-year old male patient with a complete second branchial cleft fistula and additional congenital, bilateral hearing loss. The course of the disease, diagnostic difficulties, and its treatment are presented. Genetic counseling finally confirmed the mutation of an EYA1 gene, responsible for the occurrence of BOR syndrome. The child undergone a total fistula resection without any complications during hospitalization or in the postoperative treatment. Summary: Presentation of this clinical case was intended primarily to remind that such defects may occur in the association with other anomalies, for example, deafness or renal disorders. When dealing with such patients, it is worth paying attention to the detailed examination and diagnostics, including genetic counseling, hearing tests or abdominal ultrasound. Special radiological imaging should also be performed in case of the unusual course of the fistula or probable proximity to vital structures, what is essential during qualification for surgery. Finally, we wanted to describe alternative methods of treatment for the standard surgical technique that may be used in a selected group of patients.
    Źródło:
    Polski Przegląd Otorynolaryngologiczny; 2019, 8, 1; 63-70
    2084-5308
    2300-7338
    Pojawia się w:
    Polski Przegląd Otorynolaryngologiczny
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    A novel framework for fetal nuchal translucency abnormality detection using hybrid maxpool matrix histogram analysis
    Autorzy:
    Verma, Deept
    Agrawal, Shweta
    Powiązania:
    https://bibliotekanauki.pl/articles/38703226.pdf
    Data publikacji:
    2023
    Wydawca:
    Instytut Podstawowych Problemów Techniki PAN
    Tematy:
    nuchal translucency
    genetic disorders
    hybrid maxpool matrix histogram analysis
    pregnant women
    machine learning
    przezierność karku
    zaburzenia genetyczne
    analiza histogramu hybrydowej macierzy Maxpool
    kobiety w ciąży
    nauczanie maszynowe
    Opis:
    Birth defects affect 1 to 3 percent of the population and are mostly detected in pregnantwomen through double, triple, and quadruple testing. Ultrasonography helps to discoverand define such anomalies in fetuses. Ultrasound pictures of nuchal translucency (NT)are routinely used to detect genetic disorders in fetuses. The NT area lacks identifiablelocal behaviors and detection algorithms are required to classify the fetal head. On theother hand, explicit identification of other body parts comes at a higher cost in termsof annotations, implementation, and analysis. In circumstances of ambiguous head placement or non-standard head-NT relationships, it may potentially cause cascading errors.In this research work, a linear contour size filter is used to decrease noise from the image,and then the picture is scaled. Then, a novel hybrid maxpool matrix histogram analysis (HMMHA) is proposed to enhance the initiation and progression. The training andassessment were conducted using a dataset of 33 ultrasound pictures. Extensive testingshows that the direct method reliably identifies and measures NT. The suggested modelmay assist doctors in making decisions about pregnancies with fetal growth restriction,particularly for patients who have nuchal translucency or congenital anomalies and donot require induced labor due to these abnormalities. The performance of the proposedtechnique is analyzed in terms of error rate, sensitivity, Matthews correlation coefficient(MCC), accuracy, precision, recall, and F1-score. The error rate of the proposed model is28.21% and it is found to be better when compared with the conventional approaches. Finally, the error prediction is compared with the existing models obtained from the medicaldataset of pregnant women to identify fetal abnormality positions.
    Źródło:
    Computer Assisted Methods in Engineering and Science; 2023, 30, 3; 277-290
    2299-3649
    Pojawia się w:
    Computer Assisted Methods in Engineering and Science
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
      Wyświetlanie 1-3 z 3

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