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Moebius syndrome - improving outcome with combined state-of-the-art surgical and rehabilitation treatments 莫比斯综合征-结合最先进的手术和康复治疗改善预后
Pub Date : 2021-06-30 DOI: 10.25753/BIRTHGROWTHMJ.V30.I2.18911
J. P. Castro, L. Vouga, I. Jorge, Maria Paz Cunha, R. Amorim, L. Palhau
Moebius Syndrome (MBS) is a rare disorder, characterized by congenital, non-progressive facial palsy and other cranial and limb defects. A typical “mask-like” appearance, drooling, and indistinct speech comprise the dominant features.Treatment focuses on correcting deformities and enhancing functionality. Surgical free functional muscle transfer (FFMT) is the gold standard for facial reanimation. A comprehensive rehabilitation program addressing motor, cognitive, and social impairment is paramount, despite the scarcity of knowledge regarding MBS rehabilitation, especially concerning central nervous system reorganization.A six-year-old boy with MBS received treatment in our Department since the age of four months, including speech, physical, and occupational therapy. Recently, he underwent facial reanimation surgery.The authors believe that rehabilitation improved the patient’s outcome by enhancing cortical representation before and neuroplasticity after surgery. Coordination of both interventions seems pivotal to fully address MBS.
莫比斯综合征(Moebius Syndrome, MBS)是一种罕见的疾病,以先天性、非进行性面瘫和其他颅肢缺陷为特征。典型的“面具样”外表、流口水和含糊不清的语言构成了主要特征。治疗的重点是矫正畸形和增强功能。手术游离功能性肌肉移植(FFMT)是面部再生的金标准。尽管缺乏关于MBS康复的知识,特别是关于中枢神经系统重组的知识,但一个针对运动、认知和社交障碍的综合康复计划是至关重要的。一名6岁的MBS男孩从4个月开始在我科接受治疗,包括语言、物理和职业治疗。最近,他接受了面部再生手术。作者认为,康复通过增强手术前的皮层表征和手术后的神经可塑性来改善患者的预后。协调这两种干预措施似乎对全面解决MBS至关重要。
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引用次数: 1
Gynecological clinical case 妇科临床病例
Pub Date : 2021-06-30 DOI: 10.25753/BIRTHGROWTHMJ.V30.I2.19222
D. Silva, Sofia Costa, M. Cavazza, Alexandra Luz
Herein is reported the case of a child observed in the Emergency Department due to urinary retention, suprapubic pain, and dysuria. Urine culture was performed upon cystitis suspicion, which was positive for Escherichia Coli, and the patient was treated with amoxicillin and clavulanic acid. Three days later, the child was reevaluated for persistent urinary retention, fever, and vaginal bleeding. At gynecological examination, she had an imperforate hymen. Imaging evaluation was performed, revealing an abdominal mass, suggestive of piohematocolpos. The patient was submitted to surgical drainage, with complete condition resolution.
本文报告一儿童因尿潴留、耻骨上疼痛及排尿困难而在急诊科就诊的病例。怀疑膀胱炎后行尿培养,大肠杆菌阳性,给予阿莫西林和克拉维酸治疗。3天后,患儿复查是否有持续性尿潴留、发热和阴道出血。妇科检查发现处女膜闭锁。影像学检查显示腹部肿块,提示脑出血。患者接受手术引流,病情完全缓解。
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引用次数: 0
Is children-care in the hospital setting safe? 医院里的儿童看护安全吗?
Pub Date : 2021-06-30 DOI: 10.25753/BIRTHGROWTHMJ.V30.I2.24922
Bilhota Xavier
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引用次数: 0
Immunotherapy with hymenoptera venom in a child with anaphylaxis 膜翅目毒液免疫治疗过敏性儿童1例
Pub Date : 2021-06-30 DOI: 10.25753/BIRTHGROWTHMJ.V30.I2.19718
I. Falcão, L. Cunha
Systemic reactions to hymenoptera venom in childhood are uncommon, comprising less than 1% of cases. The prevalence proves higher in adults, encompassing 0.3−8.9%. Anaphylaxis forms the most severe of all allergic reactions and can be fatal. Specific immunotherapy based on hymenoptera venom is the only treatment that prevents moderate-to-severe systemic reactions. Due to immunotherapy safety and effectiveness, this treatment is indicated during childhood in cases of grade II and III systemic reactions.The authors describe the clinical case of a fourteen-year-old male patient, son of a beekeeper, who was followed in the Allergy and Clinical Immunology Department due to anaphylaxis to hymenoptera venom and was under immunotherapy to Apis mellifera venom since the age of nine, besides complying with measures to evade hymenoptera.
儿童期对膜翅目毒液的全身性反应并不常见,占病例的不到1%。成人的患病率更高,为0.3 - 8.9%。过敏反应是所有过敏反应中最严重的,可能是致命的。基于膜翅目昆虫毒液的特异性免疫疗法是唯一能防止中度至重度全身反应的治疗方法。由于免疫治疗的安全性和有效性,这种治疗适用于儿童时期II级和III级全身反应的病例。作者描述了一名养蜂人的儿子,14岁男性患者的临床病例,他因对膜翅目毒液过敏而在过敏和临床免疫科随访,自9岁起接受蜜蜂毒液免疫治疗,并遵守躲避膜翅目昆虫的措施。
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引用次数: 0
Kawasaki disease in a five-month-old infant 一个5个月大婴儿的川崎病
Pub Date : 2021-06-30 DOI: 10.25753/BIRTHGROWTHMJ.V30.I2.19077
Juliana Maciel, Daniel Meireles, M. Magalhães, S. Gonçalves, S. Fernandes, P. Fernandes
Introduction:  Kawasaki disease, an acute self-limited vasculitis of small and medium arteries of unknown etiology, is the leading cause of heart disease in children in most developed countries. If untreated, it can lead to coronary artery dilatation and aneurysm, placing patients at risk for coronary thrombosis, myocardial infarction, or sudden death.Case Report: A previously healthy five-month-old boy presented with a history of respiratory symptoms and fever, being admitted for respiratory syncytial virus bronchiolitis. He maintained fever for five days associated with progressive clinical worsening and sequential development of conjunctival injection, cracked lips, swelling of hands and feet, and polymorphous rash of the limbs. Diagnostic procedures showed increased levels of inflammatory markers, hyponatremia, hypoalbuminemia, sterile pyuria, and aseptic meningitis. Despite an initial normal echocardiogram, Kawasaki disease was suspected and the boy started intravenous immunoglobulin on the fifth day. On the seventh day, echocardiogram showed signs of pancarditis and mild coronary artery ectasia and acetylsalicylic acid was started. The boy was discharged, but eight days later echocardiogram revealed major and diffuse coronary artery ectasia in a follow-up consultation and he was readmitted to start corticosteroid therapy. After five months, the boy displayed normalization of cardiac changes, without further complications.Comments: Kawasaki disease below six months of age is rare and associated with a high risk of coronary artery aneurysm. It is important to recognize the clinical and laboratory criteria associated with this entity and start early treatment, avoiding cardiac complications.
简介:川崎病是一种病因不明的中小型动脉急性自限性血管炎,是大多数发达国家儿童心脏病的主要原因。如果不及时治疗,它会导致冠状动脉扩张和动脉瘤,使患者面临冠状动脉血栓形成、心肌梗死或猝死的风险。病例报告:一名先前健康的五个月大男孩,有呼吸道症状和发热史,因呼吸道合胞病毒细支气管炎住院。患者持续发热5天,并伴有临床恶化和结膜注射、唇裂、手脚肿胀和四肢多形皮疹的顺序发展。诊断程序显示炎症标志物水平升高,低钠血症,低白蛋白血症,无菌脓尿和无菌性脑膜炎。尽管最初的超声心动图正常,但怀疑是川崎病,男孩在第五天开始静脉注射免疫球蛋白。第7天,超声心动图显示胰脏炎和轻度冠状动脉扩张迹象,开始使用乙酰水杨酸。男孩出院,但8天后超声心动图显示主要和弥漫性冠状动脉扩张在随访咨询,他再次入院开始皮质类固醇治疗。5个月后,男孩表现出正常的心脏变化,没有进一步的并发症。评论:6个月以下的川崎病是罕见的,并且与冠状动脉瘤的高风险相关。重要的是要认识到与该实体相关的临床和实验室标准,并开始早期治疗,避免心脏并发症。
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引用次数: 0
Folic acid, vitamin B12, and psychotic symptoms among young psychiatric inpatients 叶酸、维生素B12与年轻精神病住院患者的精神病症状
Pub Date : 2021-06-30 DOI: 10.25753/BIRTHGROWTHMJ.V30.I2.18765
F. Reis, L. Duarte, T. Cartaxo, V. Santos
Introduction: Folic acid and/or vitamin B12 deficiency are known to be associated with neuropsychiatric disorders. However, the association between serum levels of these molecules and psychotic symptoms is not established. The aim of this study was to investigate the association between folic acid and vitamin B12 serum levels and the presence of psychotic symptoms among child and young adult psychiatric inpatients.Material and Methods: This was a retrospective cohort study of 165 patients under 25 years of age admitted due to psychiatric disorders between 2005 and 2018 and with folic acid and vitamin B12 serum levels assessed during hospitalization. Two groups of patients were defined according to presence or absence of psychotic symptoms. Rehospitalization was also assessed.Results: Folic acid serum levels were significantly lower (p=0.01) in children and young adults hospitalized for psychiatric disorders with psychotic symptoms compared to patients of the same age with acute psychiatric illness without psychotic symptoms. A similar non-significant trend was found for vitamin B12. Rehospitalization rates were also higher in the first group.Conclusion: Results from this study suggest that low folic acid serum levels are associated with psychotic symptoms regardless of the baseline diagnosis.
叶酸和/或维生素B12缺乏被认为与神经精神疾病有关。然而,这些分子的血清水平与精神病症状之间的关系尚未确定。本研究的目的是调查叶酸和维生素B12血清水平与儿童和青年精神病住院患者精神病症状之间的关系。材料和方法:这是一项回顾性队列研究,纳入了2005年至2018年间因精神疾病入院的165名25岁以下患者,并在住院期间评估了叶酸和维生素B12的血清水平。两组患者根据是否存在精神病症状来定义。还评估了再住院情况。结果:与同龄急性精神疾病无精神症状患者相比,有精神症状住院的儿童和青年成人血清叶酸水平显著降低(p=0.01)。维生素B12也有类似的不显著趋势。第一组的再住院率也更高。结论:本研究结果表明,无论基线诊断如何,低叶酸血清水平与精神病症状相关。
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引用次数: 2
Parental support and perceived self-efficacy − a study of parental perceptions in an early childhood child psychiatry unit 父母支持和自我效能感——儿童早期精神科对父母认知的研究
Pub Date : 2021-06-30 DOI: 10.25753/BIRTHGROWTHMJ.V30.I2.20443
C. Ribeiro, P. Dias, I. Peixoto, Rita Ganhoto, Salomé Silva, Pedro Caldeira da Silva
Introduction: Perceived parental self-efficacy (PSE) has shown an association with positive parental behavior, highlighting its benefit in promoting child well-being and healthy development. The identification of its potential determinants remains a focus of attention in mental health when assessing parental perceptions and cognitions or planning parental interventions.Material/Methods: This was a cross-sectional study in an Early Childhood Child Psychiatry Unit. All parents of babies and toddlers assessed for the first time were included and completed a Parenting Sense of Competence (PSOC) scale (portuguese translation, α= 0.75-0.83) and two additional questions concerning perceptions of support from the other parent and family of origin. Average PSOC was compared between both parents and correlations with perceptions of support were tested. Statistical analysis was conducted in SPSS® version 21 through descriptive analysis and variable correlation (t-test and Pearson r).Results: A total of thirty-four questionnaires were completed. Average PSOC was similar between father and mothers (73.44 vs 72.24, p=0.533). Fathers perceived themselves as more supported than mothers, either from the family of origin (5.09 vs 4.21, p=0.001), as from the other parent (4.91 vs 4.09, p=0.011). A positive correlation was found between father’s PSOC and perception of support from the family of origin (r=0.639, p <0.01).Conclusions: Among mothers of children followed in this Child Psychiatry Unit, support perceptions did not correlate with perceived parental self-efficacy. However, father’s perceived self-efficacy could relate to perceptions of support, raising clinical attention on how fathers and their family of origin can influence the relational triad. Perceptions of parental support should be explored when considering within-family horizontal relations as a potential mechanism influencing vertical relations through its association with perceived self-efficacy.
父母自我效能感(PSE)与积极的父母行为之间存在关联,在促进儿童幸福和健康发展方面具有重要作用。在评估父母的看法和认知或规划父母干预措施时,确定其潜在的决定因素仍然是精神卫生领域关注的焦点。材料/方法:这是一项在儿童早期精神科进行的横断面研究。所有首次接受评估的婴儿和幼儿的父母都被纳入并完成了一个养育能力感(PSOC)量表(葡萄牙语翻译,α= 0.75-0.83)和两个关于来自另一方父母和原生家庭的支持感知的附加问题。比较了父母双方的平均PSOC,并测试了与支持感知的相关性。采用SPSS®version 21进行统计分析,采用描述性分析和变量相关(t检验和Pearson r)。结果:共完成问卷34份。父亲和母亲的平均PSOC相似(73.44 vs 72.24, p=0.533)。父亲认为自己比母亲得到更多的支持,无论是来自原生家庭(5.09 vs 4.21, p=0.001),还是来自父母另一方(4.91 vs 4.09, p=0.011)。父亲的PSOC与原生家庭支持感呈显著正相关(r=0.639, p <0.01)。结论:在儿童精神科随访的儿童母亲中,支持感知与父母自我效能感不相关。然而,父亲的自我效能感可能与支持感有关,这引起了临床对父亲及其原生家庭如何影响关系三位一体的关注。在考虑家庭内部横向关系作为影响纵向关系的潜在机制时,应探索父母支持的感知,因为它与感知自我效能感有关。
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引用次数: 0
The new health basic law - a process not yet finished 新的《卫生基本法》——这一进程尚未完成
Pub Date : 2021-04-06 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.24174
P. Ferreira
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引用次数: 0
Congenital candidiasis – a diagnostic challenge 先天性念珠菌病-诊断的挑战
Pub Date : 2021-04-06 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.20036
Sara Rolim, Joana Figueirinha, C. Miguel, S. Lopes, Felisbela Rocha, Cecília Martins, S. Carvalho
Introduction: Congenital candidiasis is a rare intrauterine infection characterized by vesicular and pustular skin lesions appearing in the first six days of life.Clinical case: The authors describe the case of a full-term infant presenting erythematous macules, vesicles and pustules involving the trunk and extremities and cervical burn-like dermatitis at birth. Mycological skin lesion culture was positive for Candida albicans. Blood culture was positive for methicillin-sensitive Staphylococcus aureus. After systemic antifungal and antibiotic therapy was started, the newborn remained asymptomatic with lesion improvement.Discussion/ Conclusion: Herein is reported a case of congenital candidiasis in a full-term infant, with a successful recovery. The rarity of congenital candidiasis can lead to delayed diagnosis and unnecessary treatment. This case shows that fungal infection should be considered in the differential diagnosis of vesiculopustular skin lesions in neonates. Systemic therapy should be initiated if invasive candidiasis is suspected.
简介:先天性念珠菌病是一种罕见的宫内感染,其特征是在生命的前6天出现水泡和脓疱性皮肤病变。临床病例:作者描述了一个足月婴儿的情况下表现为红斑,囊泡和脓疱累及躯干和四肢和颈部烧伤样皮炎出生。真菌学皮肤病变培养白色念珠菌阳性。血培养甲氧西林敏感金黄色葡萄球菌阳性。在开始全身抗真菌和抗生素治疗后,新生儿无症状,病变有所改善。讨论/结论:本文报告一例先天性念珠菌病在足月婴儿,成功恢复。先天性念珠菌病的罕见性可能导致诊断延误和不必要的治疗。本病例表明,真菌感染应考虑在鉴别诊断的膀胱脓疱性皮肤病变的新生儿。如果怀疑有侵袭性念珠菌病,应开始全身治疗。
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引用次数: 0
Terapêutica com surfactante em recém-nascidos prematuros: tendência para uma abordagem menos invasiva 表面活性剂治疗早产儿:微创方法的趋势
Pub Date : 2021-04-06 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.19182
Daniel Meireles, Luísa Neiva Araújo, Marta Nascimento, L. Pinho, A. C. Freitas, A. Almeida, Cármen Carvalho, E. Proença
Introduction: Minimally invasive surfactant therapy (MIST) is a surfactant administration procedure that intends to reduce intubations and associated risks. The aim of this study was to compare MIST with INtubation-SURfactant-Extubation (INSURE) technique. Material and methods: Retrospective analysis (from January 2015 to June 2019) of preterm infants on nasal continuous positive airway pressure (nCPAP) treated with surfactant.Results: Fifty-four preterm infants were included and divided in two groups: MIST (n=34) and INSURE (n=20). No significant differences were found between groups regarding gestational age (p=0.480), birth weight (p=0.299), fraction of inspired oxygen (FiO2) prior to surfactant (p=0.220), oxygen therapy duration (p=0.306), progression to intubation (p=0.712), or length of Neonatal Intensive Care Unit stay (p=0.778). FiO2 variation before and after surfactant administration was higher in MIST group (14% vs 9%, p=0.078). No significant complications were reported with either technique.Conclusions: MIST is a safe technique in preterm infants on nCPAP. This study shows similar outcomes with MIST and INSURE procedures, with a greater reduction in FiO2 requirements with MIST. Overall, MIST is less invasive and as effective as INSURE in preterm infants.
微创表面活性剂治疗(MIST)是一种表面活性剂给药程序,旨在减少插管和相关风险。本研究的目的是比较MIST与插管-表面活性剂-拔管(INSURE)技术。材料与方法:回顾性分析2015年1月至2019年6月接受表面活性剂鼻腔持续气道正压通气(nCPAP)治疗的早产儿。结果:纳入54例早产儿,分为MIST组(n=34)和INSURE组(n=20)。两组间在胎龄(p=0.480)、出生体重(p=0.299)、表面活性物质使用前吸入氧(FiO2)比例(p=0.220)、氧治疗持续时间(p=0.306)、插管进展(p=0.712)或新生儿重症监护病房住院时间(p=0.778)方面无显著差异。表面活性剂给药前后,MIST组FiO2变化较高(14% vs 9%, p=0.078)。两种方法均无明显并发症。结论:MIST是一种安全的早产儿nCPAP技术。该研究表明,MIST和INSURE的结果相似,MIST更能降低FiO2要求。总的来说,在早产儿中,MIST的侵入性较小,与INSURE一样有效。
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引用次数: 0
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Nascer e Crescer
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