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What makes women in Croatia satisfied with childbirth? 是什么让克罗地亚妇女对分娩感到满意?
Q4 Medicine Pub Date : 2023-04-23 DOI: 10.26800/lv-145-supl2-cm10
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引用次数: 0
Mild carnitine uptake defect due to a novel homozygous mutation in the SLC22A5 gene detected by newborn screening 新生儿筛查发现SLC22A5基因纯合突变导致轻度肉毒碱摄取缺陷
Q4 Medicine Pub Date : 2023-04-23 DOI: 10.26800/lv-145-supl2-cr57
Lea Klepač, Klara Miljanić, D. Ramadža, I. Barić, T. Žigman, Alisa Fejzić, Hana Franić, A. Barišić, I. Karas
variant c.820_821delTGinsGA (p.Trp274Glu) in the SLC22A5 gene, predicted to be damaging but unreported earlier, thus classified as a variant of unknown significance. OCTN2 activity in fibroblasts was 25% of the control value. The treatment and patient monitoring plan were adjusted accordingly.
SLC22A5基因中的c.820_821delTGinsGA (p.Trp274Glu)变异,预计具有破坏性,但此前未报道,因此被归类为未知意义的变异。OCTN2在成纤维细胞中的活性为对照组的25%。相应调整治疗方案和患者监护方案。
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引用次数: 0
Psychotherapy as a stress modulator – resilience and integration 心理治疗作为一种压力调节剂——恢复力和整合
Q4 Medicine Pub Date : 2023-04-23 DOI: 10.26800/lv-145-supl2-is08
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引用次数: 0
Psycho-oncology: yesterday, today, tomorrow 心理肿瘤学:昨天、今天、明天
Q4 Medicine Pub Date : 2023-04-23 DOI: 10.26800/lv-145-supl2-is02
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引用次数: 0
Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease 全基因组联合分析鉴定罕见的非编码致病变异- 1例儿童线粒体疾病病例报告
Q4 Medicine Pub Date : 2023-04-23 DOI: 10.26800/lv-145-supl2-cr79
Dina Gržan, Marjan Kulaš, Lea Jukić, Petra Sulić, M. Ćuk
genome was done under the “CroSeq-GenomeBank” project. As a result, a rare non-coding causative variant in the NDUFS7 gene in the homozygous composition was identified, and she was diagnosed with MC1DN3. This autosomal recessive disease causes dysfunction of energy production in the mitochondria with a heterogenous and unpredictable clinical course with symptomatic treatment. CONCLUSION: With the evolution of diagnostic methods
基因组是在“CroSeq基因组库”项目下完成的。结果,在纯合子组成中的NDUFS7基因中发现了一种罕见的非编码致病变体,她被诊断为MC1DN3。这种常染色体隐性遗传疾病会导致线粒体能量产生功能障碍,其临床过程具有异质性和不可预测性,需要对症治疗。结论:随着诊断方法的发展
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引用次数: 0
CHALLENGING MANAGEMENT OF SEVERE MYOCARDITIS WITH COMPLETE RECOVERY – a case report 严重心肌梗死完全康复的挑战性管理——一例报告
Q4 Medicine Pub Date : 2023-04-23 DOI: 10.26800/lv-145-supl2-cr10
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引用次数: 0
Sleep disorders as risk factors for mental disorders 睡眠障碍是精神障碍的危险因素
Q4 Medicine Pub Date : 2023-04-23 DOI: 10.26800/lv-145-supl2-is11
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引用次数: 0
Histological aspects of Therapeutic effects of Stable gastric pentadecapeptide BPC 157 on stomach perforation 稳定胃五肽bpc157治疗胃穿孔的组织学观察
Q4 Medicine Pub Date : 2023-04-23 DOI: 10.26800/lv-145-supl2-bs05
P. Horvat, Marjeta Linarić Lipnjak, Matija Lacković
BPC-157 rats only mild mucosal congestion was observed at perforation margins. CONCLUSION: BPC-157 shows a beneficial effect in healing the perforated defect. As seen histologically, it reduces congestion and hemorrhage in organs.
BPC-157大鼠穿孔边缘仅观察到轻度粘膜充血。结论:BPC-157具有良好的修复穿孔缺损的作用。从组织学上看,它减少了器官的充血和出血。
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引用次数: 0
Simultaneous Occurrence of Acute Myeloid Leukemia and Chronic Lymphocytic Leukemia: A Case Report 急性髓性白血病和慢性淋巴细胞白血病同时发生1例报告
Q4 Medicine Pub Date : 2023-04-23 DOI: 10.26800/lv-145-supl2-cr25
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引用次数: 0
Posaconazole-induced Glucocorticoid Deficiency in a Patient with Myelodysplastic syndrome. 泊沙康唑诱导骨髓增生异常综合征患者糖皮质激素缺乏。
Q4 Medicine Pub Date : 2023-04-23 DOI: 10.26800/lv-145-supl2-cr64
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引用次数: 0
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