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Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007–2021) 突尼斯先天性糖基化紊乱综合征筛查的单中心经验:一项为期15年(2007-2021年)的回顾性研究。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.003
Wiem Zidi , Sameh Hadj-Taieb , Ichraf Kraoua , Mongia Hachicha , Hassen Seboui , Kamel Monastiri , Saayda Ben Becher , Ilhem Turki , Haifa Sanhaji , Neji Tebib , Naziha Kaabachi , Moncef Feki , Monia Allal-Elasmi

Background

We report the results gathered over 15 years of screening for congenital disorders of glycosylation syndrome (CDGS) in Tunisia according to clinical and biochemical characteristics.

Methods

Our laboratory received 1055 analysis requests from various departments and hospitals, for children with a clinical suspicion of CDGS. The screening was carried out through separation of transferrin isoforms by capillary zone electrophoresis.

Results

During the 15-year period, 23 patients were diagnosed with CDGS (19 patients with CDG-Ia, three patients with CDG-IIx, and one patient with CDG-X). These patients included 13 boys and 10 girls aged between 3 months and 13 years, comprising 2.18 % of the total 1055 patients screened. The incidence for CDGS was estimated to be 1:23,720 live births (4.21 per 100,000) in Tunisia. The main clinical symptoms related to clinical disease state in newborn and younger patients were psychomotor retardation (91 %), cerebellar atrophy (91 %), ataxia (61 %), strabismus (48 %), dysmorphic symptoms (52 %), retinitis pigmentosa, cataract (35 %), hypotonia (30 %), and other symptoms.

Conclusion

In Tunisia, CDGS still remains underdiagnosed or misdiagnosed. The resemblance to other diseases, especially neurological disorders, and physicians’ unawareness of the existence of these diseases are the main reasons for the underdiagnosis. In routine diagnostics, the screening for CDGS by biochemical tests is mandatory to complete the clinical diagnosis.

背景:我们报告了突尼斯15年来根据临床和生化特征筛查先天性糖基化紊乱综合征(CDGS)的结果:我们的实验室收到了来自不同部门和医院的 1055 份分析请求,这些请求都是针对临床怀疑患有 CDGS 的儿童。筛查是通过毛细管区带电泳分离转铁蛋白异构体进行的:结果:15 年间,23 名患者被确诊为 CDGS(19 名 CDG-Ia、3 名 CDG-IIx、1 名 CDG-X)。这些患者包括 13 名男孩和 10 名女孩,年龄在 3 个月至 13 岁之间,占总筛查人数 1055 人的 2.18%。据估计,突尼斯 CDGS 的发病率为 1:23,720 活产婴儿(每 100,000 人中有 4.21 例)。新生儿和年轻患者与临床疾病状态相关的主要临床症状为精神运动迟滞(91%)、小脑萎缩(91%)、共济失调(61%)、斜视(48%)、畸形症状(52%)、视网膜色素变性、白内障(35%)、肌张力低下(30%)和其他症状:结论:在突尼斯,CDGS 仍未得到充分诊断或误诊。与其他疾病(尤其是神经系统疾病)的相似性以及医生对这些疾病的不了解是诊断不足的主要原因。在常规诊断中,必须通过生化检验筛查 CDGS 才能完成临床诊断。
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引用次数: 0
Dysmenorrhea among 12-year-old teenagers from different socioeconomic backgrounds 来自不同社会经济背景的 12 岁青少年的痛经问题。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.09.018
Coralie Defert , Ianis Cousin , Isabelle Chauvet-Le Marchand , Catherine Burgazzi , Estelle Le Pabic , Alexis P Arnaud

Background

The age of menarche has been gradually declining since the end of the 20th century. Few studies have been carried out about dysmenorrhea in Europe and they mainly included girls over the age of 15 years.

Methods

We conducted an observational study among sixth-grade schoolgirls (usually 11-12 years) during the 2020 academic year in 72 randomly selected public schools in a French region (approval number #20.94).

Results

Among 1712 girls interviewed, 257 (23 %) had reached menarche. Overall, 83 % of these teenagers had dysmenorrhea. Symptoms were reported to occur since the first periods in 59 % of the girls. School absenteeism was positively correlated with severe abdominal pain (p = 0.001). Median age at menarche was 11 years (10.7–11.5). Periods lasted less than 3 days, 3–8 days, and more than 8 days in, respectively, 18 %, 70 %, and 7 % of the girls. Symptoms were significantly more frequent and more severe in the urban group than the rural group (p = 0.005). Symptoms were abdominal pain (70 %), fatigue (48 %), difficulty in concentrating (26 %), headache (25 %), digestive disorders (16 %), and breast discomfort (11 %). Of the girls with dysmenorrhea, 61 % took painkillers; 10 % were uncomfortable despite taking painkillers. Sport exemption was more frequent in the urban group (p = 0.003) and among girls with severe abdominal pain (p = 0.001).

Conclusions

The duration of the menstrual cycle was similar between the various socioeconomic groups, but symptoms and ways of coping were significantly different. Dysmenorrhea is definitely an issue that has to be raised with teenagers as soon as menarche occurs or even before that. Easy access to skilled health practitioners should be widespread.

背景:自 20 世纪末以来,初潮年龄逐渐下降。在欧洲,有关痛经的研究很少,而且主要包括 15 岁以上的女孩:我们在 2020 学年对法国一个大区(批准号:20.94)的 72 所随机抽取的公立学校的六年级女生(通常为 11-12 岁)进行了一项观察性研究:在受访的 1712 名女生中,有 257 人(23%)已达到初潮。总体而言,83%的少女患有痛经。据报告,59%的女孩从初潮开始就出现痛经症状。旷课与剧烈腹痛呈正相关(p = 0.001)。初潮年龄中位数为 11 岁(10.7-11.5)。月经持续时间少于 3 天、3-8 天和超过 8 天的女孩分别占 18%、70% 和 7%。城市组的症状明显比农村组频繁和严重(p = 0.005)。症状包括腹痛(70%)、疲劳(48%)、注意力难以集中(26%)、头痛(25%)、消化系统紊乱(16%)和乳房不适(11%)。在痛经的女孩中,61%服用了止痛药;10%尽管服用了止痛药,但仍感到不适。城市组(p = 0.003)和腹痛严重的女孩(p = 0.001)更经常放弃运动:结论:不同社会经济群体的月经周期持续时间相似,但症状和应对方式却有显著差异。痛经无疑是一个问题,必须在少女初潮时甚至初潮前就向她们提出来。应广泛普及专业保健人员的服务。
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引用次数: 0
On the study exploring the correlation between sedentary behavior and physical activity in adolescents and children 关于探索青少年和儿童久坐行为与体育活动之间相关性的研究。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.09.009
Mei-Ju Chen, Shu-Hsin Lee, Shiuan-Shinn Lee
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引用次数: 0
First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array 首次报告摩洛哥东部的染色体异常:利用单核苷酸多态性阵列鉴定一例新的 13q 部分三体综合征病例。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.002
Manal Elidrissi Errahhali , Mounia Elidrissi Errahhali , Sara Ramdani , Saida Lhousni , Noufissa Benajiba , Maria Rkain , Abdeladim Babakhouya , Aziza Elouali , Ayad Ghanam , Rim Amrani , Sahar Messaoudi , Anass Ayyad , Bouchra Oneib , Ahmed Mimouni , Hanane Saadi , Sanae Allaoui , Meryem Ouarzane , Agnès Guichet , Majida Charif , Redouane Boulouiz , Mohammed Bellaoui

Background

Chromosomal abnormalities are the main cause of birth defects, intellectual disability, and miscarriages. They contribute to significant human morbidity and infant mortality. Here we report for the first time the chromosomal abnormalities encountered in the population of Eastern Morocco. Furthermore, we describe a new case of a de novo partial trisomy 13q combined with a terminal deletion in an 11-day-old girl.

Methods

From November 2015 to March 2022, 195 patients from the BRO Biobank who were clinically suspected of having chromosomal abnormalities were referred to the cytogenetics laboratory of the Genetics Unit of the Faculty of Medicine and Pharmacy of Oujda for cytogenetic study. Karyotyping analysis was performed on peripheral blood samples using standard R banding techniques. To identify single-nucleotide polymorphism (SNP) and copy number variants (CNVs), Illumina SNP array was used.

Results

Among 195 studied cases, 32 (16.4 %) had abnormal karyotypes, of which 12 cases had numerical aberrations while 20 cases had structural aberrations. The most common numerical aberrations were Turner syndrome and Down syndrome followed by Edward, Patau, and Klinefelter syndromes. For structural aberrations, translocations were the most common, followed by derivative chromosomes, inversions, deletions, and an addition on chromosome 13 identified in an 11-day-old girl. To further characterize this addition, SNP array was carried out and revealed a 58.8-Mb duplication in region 13q14.3q34 associated with a 1-Mb deletion in region 13q34. Follow-up parental chromosomes analysis showed normal karyotypes for the parents, confirming that this partial trisomy 13q was de novo. Comparison of the phenotype associated with this novel duplication on chromosome 13q with those previously reported confirmed the considerable variability in the phenotype of the patients with partial trisomy 13q.

Conclusion

This study provided the first report on chromosomal abnormalities in Eastern Morocco and it enriched the phenotype spectrum of partial trisomy 13q and further confirmed the genotype–phenotype correlations. Furthermore, these findings justify the need to set up microarray comparative genomic hybridization techniques in Morocco for better genetic diagnosis.

背景:染色体异常是导致出生缺陷、智力障碍和流产的主要原因。它们对人类的发病率和婴儿死亡率有重大影响。在此,我们首次报告了在摩洛哥东部人群中发现的染色体异常。此外,我们还描述了一个新病例,该病例为一名出生 11 天的女婴,患有 13q 部分三体综合征并伴有终末缺失:方法:2015 年 11 月至 2022 年 3 月期间,BRO 生物库中临床怀疑染色体异常的 195 名患者被转诊至乌季达医学和药学系遗传学组的细胞遗传学实验室进行细胞遗传学研究。采用标准 R 带技术对外周血样本进行核型分析。为了确定单核苷酸多态性(SNP)和拷贝数变异(CNVs),使用了 Illumina SNP 阵列:在 195 例研究病例中,32 例(16.4%)核型异常,其中 12 例为数字畸变,20 例为结构畸变。最常见的数字畸变是特纳综合征和唐氏综合征,其次是爱德华综合征、帕陶综合征和克莱恩费尔特综合征。在结构畸变方面,易位是最常见的,其次是衍生染色体、倒位、缺失,以及在一个 11 天大的女孩身上发现的 13 号染色体上的附加。为了进一步确定这一附加的特征,进行了 SNP 阵列分析,结果显示 13q14.3q34 区域有一个 58.8 兆字节的重复,而 13q34 区域有一个 1 兆字节的缺失。后续的父母染色体分析表明,父母的核型正常,这证实 13q 部分三体是新生儿。将与 13q 染色体上这一新型重复相关的表型与之前报道的表型进行比较,证实 13q 部分三体症患者的表型存在很大差异:本研究首次报道了摩洛哥东部的染色体异常情况,丰富了 13q 部分三体综合征的表型谱,并进一步证实了基因型与表型之间的相关性。此外,这些发现证明有必要在摩洛哥建立微阵列比较基因组杂交技术,以更好地进行基因诊断。
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引用次数: 0
Effect of the Helfer skin tap technique on pain, anxiety, and fear in children undergoing intramuscular injection: An open-label randomized controlled study 海尔弗皮肤拍打技术对接受肌肉注射的儿童的疼痛、焦虑和恐惧的影响:一项开放标签随机对照研究。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-02-01 DOI: 10.1016/j.arcped.2023.10.008
Aylin Kurt , Fatma Dinç , Betül Akkoç

Background

Intramuscular injections, which children frequently experience during hospitalization, are one of the most significant causes of pain. Pain control is an important part of care. Therefore, it is necessary to provide practical methods in the field of nursing care to reduce injection-related pain.

Aim

This study aimed to determine the effect of the Helfer skin tap technique on pain, anxiety, and fear in children undergoing intramuscular injection.

Method

This randomized controlled clinical study (NCT05250804) was conducted in a pediatric emergency department between January and July 2022. A total of 64 children aged 4–10 years were randomly divided into two groups: 32 children in the Helfer skin tap group (HG), and 32 children in the control group (CG). Data were collected using the Wong–Baker FACES Pain Rating Scale, the Child Anxiety Scale–State, and the Child Fear Scale.

Results

After the intramuscular injection, children in the HG had significantly lower levels of pain, anxiety, and fear than those in the CG, with mean scores of 3.25±1.50 versus 5.18±1.51, 5.87±1.56, versus 6.23±1.46, and 1.68±0.53 versus 3.15±0.76, respectively (p<0.001 for all scores).

Conclusion

The Helfer skin tap technique has positive effects on pain, anxiety, and fear in children during intramuscular injection. This technique can be used by nurses to reduce the pain, anxiety, and fear felt by children receiving an intramuscular injection.

背景:儿童在住院期间经常会经历肌肉注射,这是导致疼痛的最主要原因之一。疼痛控制是护理工作的重要组成部分。目的:本研究旨在确定 Helfer 皮肤拍打技术对接受肌肉注射的儿童的疼痛、焦虑和恐惧的影响:这项随机对照临床研究(NCT05250804)于 2022 年 1 月至 7 月在儿科急诊室进行。共有 64 名 4-10 岁的儿童被随机分为两组:32 名儿童在海尔弗皮肤拍打组(HG),32 名儿童在对照组(CG)。采用黄-贝克 FACES 疼痛评定量表、儿童焦虑量表-状态和儿童恐惧量表收集数据:Helfer 皮肤拍打技术对儿童肌肉注射时的疼痛、焦虑和恐惧有积极作用。护士可利用该技术减轻接受肌肉注射的儿童的疼痛、焦虑和恐惧感。
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引用次数: 0
Weight changes in overweight children enrolled in a therapeutic education program 参加治疗性教育项目的超重儿童的体重变化。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-01-01 DOI: 10.1016/j.arcped.2023.06.013
Christine Chollet , Julie Gauvin , Didier Rubio , Corinne Fleury , Jean-Yves Fatras , Maïthé Tauber , Béatrice Jouret

Background

Between 2016 and 2018, overweight children in the Midi-Pyrénées region of France were invited to participate in the Tout sur l'EQuilibre Alimentaire et l'Activité Physique (TEQAAP; All About Balanced Eating and Physical Activity) education program offered by the Structure d'Expertise Régionale Obésité Occitanie (SEROO; Regional Expert Center for Obesity in Occitanie).

Objectives

To describe the patient population and evaluate the program efficacy. The primary criterion was the body mass index (BMI) Z-score of the patients at the end of the program compared to the beginning.

Methods

This retrospective, descriptive, and analytical study included 262 children (mean age: 10 years+10 months; 64% female) between 1 January 2016 and 31 December 2018. Data from 138 patients (52.7%) were accessible and analyzed. The mean study duration was 9 months.

Results

The mean BMI at inclusion was 23.3 kg/m² with a mean Z-score of 2.8 ± 0.6; 82% were overweight, 11.1% were obese, and 6.1% were normal weight. Socioeconomic categories were well-balanced (35% high, 28% intermediate, 37% low). At the end of the study, 87% of the children had improved or stabilized their BMI, and Z-scores were lower by 9%±2 (p<0.001).

Conclusion

The TEQAAP program led to an improvement in the BMI of overweight children.

背景:在2016年至2018年期间,法国中部- pyrsims地区的超重儿童被邀请参加Tout sur l'EQuilibre Alimentaire et l' activit体质(TEQAAP;《关于均衡饮食和体育活动的一切》(All About Balanced Eating and Physical Activity)教育项目,由美国联邦政府组织(SEROO;奥西坦肥胖区域专家中心)。目的:描述患者群体并评价项目效果。主要标准是患者在项目结束时与开始时的身体质量指数(BMI) z分数。方法:回顾性、描述性和分析性研究纳入262例儿童(平均年龄:10岁+10个月;2016年1月1日至2018年12月31日期间。138例(52.7%)患者的数据可以访问和分析。平均研究时间为9个月。结果:入组时平均BMI为23.3 kg/m²,平均Z-score为2.8±0.6;超重的占82%,肥胖的占11.1%,体重正常的占6.1%。社会经济类别平衡良好(35%高,28%中,37%低)。在研究结束时,87%的儿童的BMI得到改善或稳定,z分数降低了9%±2 (p)。结论:TEQAAP项目导致超重儿童的BMI得到改善。
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引用次数: 0
The relationship between nutrition and micronutrients in healthy Turkish infants and young children 健康土耳其婴幼儿的营养与微量营养素之间的关系。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-01-01 DOI: 10.1016/j.arcped.2023.08.013
Hakan Onur , Arzu Rahmanalı Onur , Özgür Aslan

Background

A healthy diet is important at every stage of life. We aimed to determine the serum vitamin D and iron, folic acid, and vitamin B12 levels in healthy children younger than 48 months and to investigate the relationship between nutrition and micronutrients in children of this age.

Methods

In this observational study children who presented to the Pediatrics Clinic of our hospital during the period 2015–2022 were included. Vitamin D and other nutritional parameters (serum folate, vitamin B12, iron, ferritin) were evaluated from the study participants' serum samples during the outpatient clinic visit (jaundice check-up, pre-circumcision surgery, etc.).

Results

Overall, 766 cases were included in the study. Vitamin D was higher in the group that was fed only breast milk (p = 0.019), and vitamin D insufficiency was statistically higher in the formula group (p = 0.015). Hemoglobin levels were significantly higher in the formula group (p = 0.007). The folic acid level was found to be normal in all infants, and was higher in formula-fed infants (p = 0.012). Vitamin B12 was found to be significantly higher in infants fed with formula (p = 0.001). Vitamin D deficiency was most common in infants aged 25–48 months (p < 0.001). Similarly, vitamin D insufficiency (12–20 ng/mL) was detected in infants aged between 25 and 48 months (p < 0.001).

Conclusion

Micronutrients such as calcium, folic acid, iron, vitamin D, and iodine are critical in early fetal development from pregnancy onward. It is vital to raise awareness of this issue for mothers, starting from pregnancy, and for mothers to feed their babies more carefully in the first years of life.

背景:健康的饮食在人生的每个阶段都很重要。我们旨在测定48个月以下健康儿童的血清维生素D、铁、叶酸和维生素B12水平,并调查该年龄儿童的营养与微量营养素之间的关系。方法:在这项观察性研究中,纳入了2015-2022年期间在我院儿科诊所就诊的儿童。从研究参与者在门诊就诊(黄疸检查、包皮环切术前手术等)期间的血清样本中评估维生素D和其他营养参数(血清叶酸、维生素B12、铁、铁蛋白)。结果:总共766例病例被纳入研究。仅母乳喂养组的维生素D含量较高(p=0.019),配方奶粉组的维生素D缺乏率在统计学上较高(p=0.015)。配方奶粉组血红蛋白水平显著较高(p=0.007)。所有婴儿的叶酸水平均正常,配方奶粉喂养婴儿的维生素B12含量更高(p=0.012)。配方奶粉喂养的婴儿维生素B12含量明显更高(p=0.001)。维生素D缺乏症在25-48个月大的婴儿中最常见(p结论:钙、叶酸、铁、维生素D和碘等微量营养素对怀孕后的胎儿早期发育至关重要。提高母亲对这一问题的认识至关重要,从怀孕开始,母亲在婴儿出生的头几年要更加小心地喂养婴儿。
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引用次数: 0
Pub — ANNONCE 21X28 NEUROLOGIE DE L'ADOLESCENCE PRINT 广告 - 21X28 青少年神经学印刷品
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-01-01 DOI: 10.1016/S0929-693X(23)00257-9
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引用次数: 0
Childminder knowledge of shaken baby syndrome and the role played by childminders in prevention: An observational study in France 保育员对摇晃婴儿综合征的了解以及保育员在预防中的作用:法国的一项观察性研究。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-01-01 DOI: 10.1016/j.arcped.2023.09.006
Valentine Fortin , Audrey Romero De Avila Ortiz , Anne-Dominique Marq , Emmanuelle Mostermans , Myriam Marichal , Marion Bailhache

Background

Shaken baby syndrome (SBS) triggers negative short- and long-term outcomes. In France, registered childminders are the principal source of daycare. They may encounter SBS imparted by caregivers or simply excessive infant crying. The aim of the study was to explore childminder knowledge on SBS, the source of information, the responses to infant crying, how childminders perceived their roles in terms of caregiver SBS prevention, and the factors associated with a good knowledge of SBS.

Methods

The participants were registered childminders working in the French department of Gironde who had email accounts. This observational study employed an anonymous online questionnaire distributed by the maternal and child health services unit of the Gironde department over 5 weeks from 16 September 2021. Data on childminder characteristics, knowledge on SBS, responses to infant crying, and perceptions of their roles in SBS prevention were collected. The knowledge score ranged from 0 (all wrong answers) to 30 (all correct answers).

Results

A total of 779 registered childminders participated; 43.9 % had learnt about SBS during their initial training and 75 % before (other training) or after initial training. The median knowledge score was 19/30 (interquartile range [16; 21]). A higher educational level, previous other professional experience, training on SBS, and responsibility for few children were associated with higher scores. Ten reported that they did not advise caregivers who complained of infant crying.

Conclusion

Childminders require training on SBS and SBS prevention.

背景:摇晃婴儿综合征(SBS)会引发负面的短期和长期结果。在法国,注册保育员是日托的主要来源。他们可能会遇到照顾者传授的SBS,或者只是婴儿过度哭泣。本研究的目的是探索儿童保育员对SBS的知识、信息来源、对婴儿哭闹的反应、儿童保育员如何看待他们在护理者预防SBS方面的角色,以及与良好的SBS知识相关的因素。方法:参与者是在法国吉伦特省工作的注册儿童保育员,他们有电子邮件账户。这项观察性研究采用了吉伦特省妇幼保健服务部门在2021年9月16日起的5周内分发的匿名在线问卷。收集了保育员特征、SBS知识、对婴儿哭闹的反应以及对其在预防SBS中作用的看法的数据。知识得分从0分(全部答错)到30分(全部正确)不等。结果:共有779名注册保育员参与;43.9%的人在初次训练期间了解过SBS,75%的人在(其他训练)前或初次训练后了解过SBS。知识得分中位数为19/30(四分位间距[16;21])。较高的教育水平、以前的其他专业经验、SBS培训以及对少数孩子的责任感与较高的分数相关。10人报告说,他们没有建议那些抱怨婴儿哭闹的看护人。结论:保育员需要接受SBS和SBS预防方面的培训。
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引用次数: 0
A retropharyngeal phlegmon as a presentation of multisystem inflammatory syndrome in children 咽后痰是儿童多系统炎症综合征的表现。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-01-01 DOI: 10.1016/j.arcped.2023.09.008
Cristiana Costa, Rita Valsassina, Maria João Brito, Ana Margarida Garcia
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引用次数: 0
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