「產兒科護理學」垂直感染、遺傳疾病和醫療院所相關政策


遺傳疾病Genetic disease

體染色體隱性遺傳疾病

體染色體隱性遺傳疾病為地中海型貧血(thalassemia)
Autosomal recessive genetic disease is thalassemia.

惡性貧血的主要原因是身體無法吸收維生素B12,導致紅血球生成異常,所以惡性貧血和地中海型貧血是兩種完全不同的疾病。
Pernicious anemia is primarily caused by the body's inability to absorb vitamin B12, leading to abnormal red blood cell production. Therefore, pernicious anemia and thalassemia are two distinct diseases.
地中海型貧血是一種遺傳性疾病,主要由於血紅蛋白的合成缺陷導致,而惡性貧血的病因主要在於維生素B12的吸收障礙導致。
Thalassemia is a genetic disorder characterized by defects in hemoglobin synthesis, while pernicious anemia is primarily caused by vitamin B12 malabsorption.
通常與自體免疫有關,且曾接受胃切除手術者較易罹患,且惡性貧血的病人通常須終生補充維生素 B12。
The latter is often associated with autoimmune conditions and is more common in individuals who have undergone gastrectomy. Patients with pernicious anemia typically require lifelong vitamin B12 supplementation. 

而骨髓切片檢查對於惡性貧血的診斷並不是必要的。
Bone marrow biopsy is not always necessary for the diagnosis of pernicious anemia.

體染色體顯性遺傳疾病

體染色體顯性遺傳疾病有第一型神經纖維瘤症、馬凡氏症(Marfan syndrome)、結節性硬化症(tuberous sclerosis)
Autosomal dominant genetic diseases include neurofibromatosis type 1, Marfan syndrome, and tuberous sclerosis.

侏儒症中最常見的原因是軟骨發育不全(achondroplasia),而軟骨發育不全為體染色體顯性遺傳疾病,Fibroblast growth factor receptor 3基因在骨骼生長中起著重要作用,約90%的病人與此基因突變有關。
Achondroplasia is the most common cause of dwarfism. It is an autosomal dominant genetic disorder. The Fibroblast growth factor receptor 3 gene plays an important role in bone growth. Mutations in this gene are associated with about 90% of cases of achondroplasia.

醫療院所政策

家庭為中心照護的產科護理模式

有關醫療院所提供以家庭為中心照護的產科護理模式策略,主要是鼓勵家庭成員積極參與產前的準備、生產過程及產後的照護,讓家庭成為照護的主體,像是待產過程中鼓勵伴侶全程陪伴(推動準爸爸陪產制)及提供待產、分娩、恢復室合而為一的樂得兒產房(皆在同一環境)。
並推動母嬰早期接觸,促進親子間的親密關係,例如:協助產檯上母嬰早期肌膚接觸產科護理、鼓勵親子同室,減少母嬰分離
The family-centered maternity care model encourages active family involvement in prenatal preparation, childbirth, and postpartum care. This model empowers families to be the primary caregivers. Examples include encouraging partners to be present throughout labor (promoting partner-assisted childbirth) and providing birthing suites that combine labor, delivery, and recovery rooms (LDR rooms). Additionally, promoting early mother-baby bonding through practices such as skin-to-skin contact immediately after birth and rooming-in is encouraged.

產後情緒低落(postpartum blues)

家族的陪伴可以提供情感支持、分擔壓力和提供建議,所以可以改善產後情緒低落(postpartum blues)狀況
Family support can provide emotional support, reduce stress, and offer advice, thus improving postpartum blues.
且產後情緒低落(postpartum blues)通常可以自行復原。
Postpartum blues typically resolve on their own.
產後情緒低落通常表現為情緒起伏大、容易哭泣、疲倦等,但並不會嚴重影響到日常生活或社會的功能,例如照顧寶寶、料理家務等。
Symptoms of postpartum blues include mood swings, tearfulness, and fatigue but do not significantly impair daily functioning such as caring for a baby or household chores.
產後憂鬱的症狀則更加嚴重,會明顯影響到日常生活功能,例如無法照顧自己或寶寶、社交退縮、對未來感到絕望等。
Postpartum depression, on the other hand, is more severe and can significantly impact daily functioning, including self-care, child care, social withdrawal, and feelings of hopelessness.
產後憂鬱的診斷並非僅以時間長短為唯一標準。雖然產後憂鬱通常會持續兩週以上,但有些產婦可能在更短的時間內就出現嚴重的症狀。
The diagnosis of postpartum depression is not solely based on the duration of symptoms. While it often lasts more than two weeks, some women may experience severe symptoms in a shorter period.

增加產前基因篩檢次數的確可以降低家族遺傳疾病的發生率,但它主要著重在疾病的預防,涉及基因檢測,而非家庭的參與和支持。
While increasing the frequency of prenatal genetic screening can indeed reduce the incidence of familial genetic diseases, it primarily focuses on disease prevention and involves genetic testing rather than family involvement and support.
家庭為中心的產科護理則更強調孕婦及其家庭在整個孕期中的參與和決策權。它提供一個支持性的環境,包括孕期教育、產後護理、親子互動等,讓家庭能夠積極參與寶寶的出生過程,並建立良好的親子關係。
Family-centered maternity care, on the other hand, places greater emphasis on the participation and decision-making power of pregnant women and their families throughout the pregnancy. It provides a supportive environment that includes prenatal education, postnatal care, and parent-child interaction, allowing families to actively participate in the birth process and establish a strong parent-child bond.

兩者之間的差異:
The differences between the two are as follows:
基因篩檢是一個強大的工具,但它並非萬能。我們需要綜合考慮篩檢的敏感度、特異性、成本效益以及對受檢者的心理影響,來決定是否進行篩檢以及選擇哪一種篩檢方法。
Genetic screening is a powerful tool but not a panacea. We need to comprehensively consider the sensitivity, specificity, cost-effectiveness, and psychological impact on the examinee when deciding whether to conduct screening and which screening method to choose.

敏感度(Sensitivity):指真正有病的人中,被篩檢工具正確診斷為有病的比例。換句話說,敏感度越高,越能找出所有真正有病的人,但可能同時也包含一些健康的人(偽陽性)。
Sensitivity: Refers to the proportion of people who actually have a disease who are correctly identified as having the disease by the screening tool. In other words, the higher the sensitivity, the more likely it is to identify all people who truly have the disease, but it may also include some healthy individuals (false positives).

特異性(Specificity):指真正沒有病的人中,被篩檢工具正確診斷為沒有病的比例。特異性越高,越能準確排除真正沒有病的人,但可能漏掉一些有病的人(偽陰性)。
Specificity: Refers to the proportion of people who do not actually have a disease who are correctly identified as not having the disease by the screening tool. The higher the specificity, the more accurate it is to exclude people who truly do not have the disease, but it may miss some people who have the disease (false negatives).

偽陽性率:指被診斷為有病,但實際上卻沒有病的人的比例。
False positive rate: Refers to the proportion of people who are diagnosed as having a disease but actually do not have the disease.
偽陰性率:指被診斷為沒有病,但實際上卻有病的人的比例。
False negative rate: Refers to the proportion of people who are diagnosed as not having a disease but actually have the disease.

好的篩檢工具不一定是要敏感度越高越好,特異性越低越好。 這取決於篩檢的目的。例如:
A good screening tool does not necessarily mean having the highest possible sensitivity and the lowest possible specificity. This depends on the purpose of the screening. For example:
癌症篩檢:為了儘早發現癌症,我們希望敏感度高,即使產生一些偽陽性,也值得進一步確診。
Cancer screening: To detect cancer as early as possible, we want high sensitivity, even if it produces some false positives, as it is worth further confirmation.
傳染病篩檢:為了避免過度治療,我們希望特異性高,減少誤診。
Infectious disease screening: To avoid overtreatment, we want high specificity to reduce misdiagnosis.
基因篩檢:
Genetic screening:
偽陽性:可能是由於檢測技術的誤差、樣本汙染或基因變異的複雜性所導致。這會讓受檢者白白擔心,並可能接受不必要的進一步檢查。
False positives: May be due to errors in testing technology, sample contamination, or the complexity of genetic variations. This can cause unnecessary worry for the examinee and may lead to unnecessary further testing.
偽陰性:可能是由於檢測的基因位點有限、基因變異類型多樣,或是檢測方法的敏感度不足。這可能導致遺漏一些具有遺傳疾病風險的個體。
False negatives: May be due to limited gene loci tested, diverse types of genetic variations, or insufficient sensitivity of the testing method. This may lead to missing some individuals at risk for genetic diseases.

家庭為中心的產科護理則是一種更全面的護理模式,它不僅關注母親的健康,也重視家庭的整體福祉。
Family-centered maternity care, on the other hand, is a more comprehensive care model that focuses not only on the mother's health but also on the overall well-being of the family.

而其實家庭照護是目前許多醫學、社會工作、心理學轉型的方向,都越來越重視家庭在個人發展中的重要性,也因為家庭是動態的系統,家庭問題可以世代間傳遞,形成一種循環模式;家庭成員之間的互動關係同時會影響個人的心理健康和行為,家庭成員的角色、關係和互動方式會隨著時間而改變,所以同時也可以利用到精神科病人的家庭治療上。
In fact, family care is a direction that many medical, social work, and psychological fields are transitioning towards. There is a growing recognition of the crucial role families play in individual development. Because families are dynamic systems, family problems can be transmitted across generations, creating a cyclical pattern. The interactions among family members simultaneously influence an individual's mental health and behavior. The roles, relationships, and interaction patterns of family members change over time, making family therapy a valuable tool for treating individuals with mental health disorders.

家庭次系統指的是家庭內部不同成員或成員組成的較小單位,例如父母子系統、兄弟姐妹子系統等。這些次系統之間的互動會影響整個家庭的運作。雖然次系統是家庭內部的結構,但它們之間的界線並不是絕對的,而且會隨著家庭的發展而變化。
A family subsystem refers to a smaller unit within a family, composed of different members or groups of members, such as the parental subsystem or the sibling subsystem. Interactions among these subsystems affect the functioning of the entire family. Although subsystems are structures within the family, the boundaries between them are not absolute and can change as the family evolves.
家庭治療不會主要強調全家的病態溝通
家庭治療確實會關注家庭成員之間的溝通模式,但並不只強調病態溝通。家庭治療師會從系統的角度來分析家庭成員之間的互動,找出潛在的問題,並幫助家庭成員學習更健康的溝通方式。雖然病態溝通是家庭問題的一個重要方面,但家庭治療的目標是改善整個家庭的互動模式,促進家庭成員之間的健康關係。
It is not entirely accurate to say that family therapy does not primarily emphasize pathological communication. While family therapy does pay attention to communication patterns among family members, it is not solely focused on pathological communication. Family therapists analyze the interactions between family members from a systemic perspective, identifying underlying issues and helping family members learn healthier communication styles. Although pathological communication is a significant aspect of family problems, the goal of family therapy is to improve the overall interaction patterns within the family and promote healthy relationships among family members.

新生兒身體評估及感染治療

一般來說,新生兒出生時都會進行身體評估檢查,頭圍大約在34-38公分之間、出生身長 45~55 公分 、新生兒兩眼瞳孔間距 3.5~4 公分、視力範圍 20 公分(8 英吋)以內,所以出生頭圍 40~42 公分需進一步追蹤評估。
Generally, newborns undergo a physical assessment at birth. Normal measurements include a head circumference of approximately 34-38 centimeters, a birth length of 45-55 centimeters, an interpupillary distance of 3.5-4 centimeters, and a visual range of within 20 centimeters (8 inches). Therefore, a newborn with a head circumference of 40-42 centimeters requires further evaluation.

新生兒的身體評估自然也有專屬的檢查表,檢查項目: 包括心率、呼吸、皮膚顏色、肢體活動、反射等。檢許多醫院都有自己制定的新生兒身體評估檢查表,用於記錄檢查結果。
Naturally, there are specific checklists for assessing newborns. These checklists include items such as heart rate, respiration, skin color, limb activity, and reflexes. Many hospitals have their own standardized newborn physical assessment checklists to record examination results.

常見的新生兒評估工具包括:
Common newborn assessment tools include:
Apgar score: 用於評估新生兒出生1分鐘和5分鐘時的生理狀況。
Apgar score: Used to assess a newborn's physiological condition at one and five minutes after birth.
新生兒篩檢: 包括先天性代謝異常、聽力篩檢等。
Newborn screening: Includes screening for congenital metabolic disorders, hearing screening, and others.

身體評估其實在護理科系的學習過程中,是一門專門的課程,身體評估是護理人員的基本技能,就像評估個案的失能狀況會使用工具式日常生活量表(IADLs)、日常生活活動量表(ADLs)、修正版柯式量表(modifed Karnofsky scale)評估身體功能、自理能力、活動能力等;失智症患者會使用簡易智能量表(MMSE)評估個體的認知功能,包括記憶力、注意力、計算能力、語言能力、視空間能力和定向力等;當然依據不同的情況還有許多其他量表可供使用,例如:
Physical assessment is a specialized course in nursing programs and a fundamental skill for nursing professionals. For instance, to assess a patient's functional limitations, tools such as the Instrumental Activities of Daily Living (IADLs) scale, Activities of Daily Living (ADLs) scale, and modified Karnofsky scale are used to evaluate physical function, self-care ability, and activity level. For individuals with dementia, the Mini-Mental State Examination (MMSE) is used to assess cognitive function, including memory, attention, calculation, language, visuospatial ability, and orientation. Of course, depending on the situation, many other scales can be used, such as:
Braden壓瘡風險評估量表: 用於評估個案發生壓瘡的風險。
Braden Scale for Predicting Pressure Sore Risk: Used to assess an individual's risk of developing pressure ulcers.
Fall Risk Assessment Tools: 用於評估個案跌倒的風險。
Fall Risk Assessment Tools: Used to assess an individual's risk of falling.
Pain Assessment Tools: 用於評估個案的疼痛程度。
Pain Assessment Tools: Used to assess an individual's pain level.

而新生兒的免疫系統尚未發育完全,容易受到感染。常見的新生兒感染包括:
Newborns have immature immune systems and are susceptible to infections. Common neonatal infections include:
細菌感染: 金黃色葡萄球菌、鏈球菌、大腸桿菌等。
Bacterial infections: Staphylococcus aureus, Streptococcus, Escherichia coli, etc.
病毒感染: 皰疹病毒、B型肝炎病毒、巨細胞病毒等。
Viral infections: Herpes simplex virus, hepatitis B virus, cytomegalovirus, etc.
真菌感染: 念珠菌等。
Fungal infections: Candida, etc.
感染的常見症狀:發燒、呼吸困難、皮膚異常 (紅疹、膿皰、黃疸等)、餵食困難、嗜睡、哭鬧不安。
Common symptoms of infection include fever, difficulty breathing, skin abnormalities (rash, pustules, jaundice), feeding difficulties, lethargy, and irritability.

治療新生兒感染最好的選擇藥物:
Best medication choice for treating newborn infections:

A. Chloramphenicol氯黴素:
這是廣效型抗生素,但副作用有再生性不良性貧血(骨隨衰竭)和灰孩子症候群(可能導致死亡的神經系統疾病)
This is a broad-spectrum antibiotic, but its side effects include aplastic anemia (bone marrow failure) and Gray Baby Syndrome (a neurological disorder that can lead to death).

B. Penicillin G青黴素:
對革蘭氏陽性菌非常有效,副作用較少。
It is highly effective against Gram-positive bacteria, which are the most common cause of newborn infections, and has fewer side effects.

C. Sulfamethoxazole磺胺甲氧:
這是廣效型抗生素,但可能會有過敏反應,且無法對所有菌株有效。
This is a broad-spectrum antibiotic, but it can cause allergic reactions and may not be effective against all bacterial strains.

D. 四環素Tetracycline:
這是廣效型抗生素,可能對嬰兒牙齒和骨骼染色。
This is a broad-spectrum antibiotic that may stain infants' teeth and bones.

垂直感染

B型肝炎和D型肝炎

B型肝炎可經由垂直感染,如果僅為核心抗原呈陰性,醫療措施則會在新生兒出生24小時內的時候注射免疫球蛋白,往後再接受B肝疫苗預防,即可預防B肝遺傳的憾事產生。

D型肝炎病毒(hepatitis D virus)必須有B型肝炎病毒(hepatitis B virus)存在才能感染人體
Hepatitis D virus (HDV) can only infect humans if hepatitis B virus (HBV) is also present.

D型肝炎病毒缺乏完整的基因組(只包含一個環狀RNA),故還需要HBV 的表面抗原基因。
Hepatitis D virus (HDV) has an incomplete genome (it only contains a circular RNA), so it also needs the surface antigen gene of HBV.
HDV 自身無法合成衣殼蛋白,需要借助HBV 的衣殼蛋白來形成完整的病毒顆粒。
HDV cannot synthesize its own envelope protein, so it needs to use the envelope protein of HBV to form complete virions.
HDV 自身無法合成複製酶,需要借助HBV 的複製酶來完成病毒的複製。
HDV cannot synthesize its own replication enzyme, so it needs to use the replication enzyme of HBV to complete the replication of the virus.

而D型肝炎的垂直感染是可能的,但並不常見。
根據世界衛生組織(WHO)的數據,D型肝炎的垂直感染率約為5%-20%。
While vertical transmission of HDV is possible, it is not common. 
According to the World Health Organization (WHO), the vertical transmission rate of HDV is about 5%-20%.

預防D型肝炎垂直感染的最佳方法是接種HBV疫苗。
The best way to prevent vertical transmission of HDV is to vaccinate against HBV.

小知識補充:下呼吸道-包括細支氣管、肺泡間通道及肺泡,肺泡是吸入氣體與血液行氣體交換的位置。

留言

最新文章