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1.
Cells ; 13(6)2024 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-38534348

RESUMO

The integration of whole genome sequencing (WGS) into all aspects of modern medicine represents the next step in the evolution of healthcare. Using this technology, scientists and physicians can observe the entire human genome comprehensively, generating a plethora of new sequencing data. Modern computational analysis entails advanced algorithms for variant detection, as well as complex models for classification. Data science and machine learning play a crucial role in the processing and interpretation of results, using enormous databases and statistics to discover new and support current genotype-phenotype correlations. In clinical practice, this technology has greatly enabled the development of personalized medicine, approaching each patient individually and in accordance with their genetic and biochemical profile. The most propulsive areas include rare disease genomics, oncogenomics, pharmacogenomics, neonatal screening, and infectious disease genomics. Another crucial application of WGS lies in the field of multi-omics, working towards the complete integration of human biomolecular data. Further technological development of sequencing technologies has led to the birth of third and fourth-generation sequencing, which include long-read sequencing, single-cell genomics, and nanopore sequencing. These technologies, alongside their continued implementation into medical research and practice, show great promise for the future of the field of medicine.


Assuntos
Genômica , Medicina de Precisão , Recém-Nascido , Humanos , Genômica/métodos , Sequenciamento Completo do Genoma , Medicina de Precisão/métodos , Farmacogenética , Genoma Humano
2.
Clin Neurol Neurosurg ; 214: 107169, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35151970

RESUMO

OBJECTIVE: To determine the real-world effectiveness and safety of erenumab after 6 months of treatment in chronic migraine patients with therapeutic resistance to multiple classes of prophylactic medication. METHODS: The patients were recruited from the Headache Outpatient Clinic of the University Hospital Centre Zagreb, Croatia between March 2019 and November 2019. All participants received erenumab 70 mg for 6 months. Interviews with participants were conducted at baseline and after the treatment period. The following parameters were analysed: reduction percentage of monthly migraine days, monthly migraine days (MMDs), monthly non-migraine headache days (MNDs), monthly headache days (MHDs), pain intensity measured by the visual-analogue scale (VAS), monthly acute migraine medication intake and reported side-effects. Additionally, we analysed the data for migraine with and without aura separately. RESULTS: There was a significant decrease in the mean value of headache frequency and pain intensity parameters after 6 months of treatment with erenumab. Out of the 54 participants included in the analysis, 70.37% had a ≥ 50% reduction in MMDs, while 40.74% had a ≥ 75% reduction. The mean values of MMDs and MHDs were reduced from 10.37 ± 0.38 to 4.59 ± 0.43 days (P < 0.001) and from 22.24 ± 0.70 to 9.74 ± 0.91 days (P < 0.001), respectively. Furthermore, the mean migraine VAS score decreased from 10.00 ± 0 to 6.69 ± 0.24 (P < 0.001). There was no significant difference in effectiveness between participants with migraine with and without aura. Nine participants reported side-effects. CONCLUSION: Our study indicates that erenumab is a safe and effective therapeutic option for chronic migraine patients.


Assuntos
Epilepsia , Transtornos de Enxaqueca , Anticorpos Monoclonais Humanizados , Croácia , Cefaleia , Humanos , Transtornos de Enxaqueca/tratamento farmacológico , Transtornos de Enxaqueca/prevenção & controle , Resultado do Tratamento
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