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相关概念视频

Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

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The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
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Pigmentation01:19

Pigmentation

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The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Skin Diseases and Disorders01:23

Skin Diseases and Disorders

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Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
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Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

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Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
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Peripheral Artery Disease I: Introduction01:30

Peripheral Artery Disease I: Introduction

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Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
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[皮质疹迟延症] 皮质疹迟延症

Josephine Mistegård1, Anne Lindegaard Christiansen2,3, Christian Vestergaard4

  • 1Hudafdeling I og Allergicentret, Odense Universitetshospital.

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概括

皮质晚期 (PCT) 是由于尿素氨基酸脱酶 (UROD) 活性较低而导致的. 有效的治疗方法包括静脉切除或氧化,以及防晒和管理促成因素.

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科学领域:

  • 生物化学 生物化学
  • 皮肤病学 皮肤病学
  • 遗传学 是一个遗传学.

背景情况:

  • 皮质晚期 (PCT) 与尿素氨基酸脱酶 (UROD) 活性降低有关.
  • 易感性因素包括致病性UROD变体和铁过载.
  • 积累的氨酸会导致皮肤对光敏感的表现,如水泡和.

研究的目的:

  • 为诊断,监测和治疗PCT提供最新的概述.
  • 突出目前的治疗策略和患者管理建议.

主要方法:

  • 对PCT诊断标准的文献综述.
  • 分析当前的监测参数.
  • 评估既定和新兴的治疗选择.

主要成果:

  • PCT诊断依赖于临床表现和生化标志物.
  • 静脉切割和低剂量氧化是有效的治疗方法.
  • 管理包括解决易感因素和确保足够的防晒.

结论:

  • PCT管理需要一个多方面的方法.
  • 及时诊断和适当的治疗对于患者的治疗结果至关重要.
  • 对患者进行防晒和降低风险因素的教育是必不可少的.