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Involuntary Movements in Cobalamin Deficiency. 钴胺素缺乏症患者的非自主运动
IF 1.2 4区 医学 Q3 PEDIATRICS Pub Date : 2024-07-01 Epub Date: 2023-06-28 DOI: 10.1055/a-2085-8461
Hamit Özyürek, Hulya Ince, Haydar Ali Tasdemir, Omer Faruk Aydin

Objective: Neurologic problems are frequently described in infants with nutritional vitamin B12 (cobalamin) deficiency.Major neurologic consequences of infantile cobalamin deficiency include delays or regression in neurodevelopment and the occurrence of involuntary movements METHODS: We reviewed the medical records of infants with cobalamin deficiency and divided infants with involuntary movements into two groups as those, who developed involuntary movements during vitamin B12 supplementation (Group I) and those, who developed involuntary movements prior to supplementation therapy (Group II).

Results: We evaluated a total of 32 infants with the diagnosis of cobalamin deficiency. Involuntary movements were observed in 12 out of 32 infants. Group I and Group II consisted of 6 infants each. Of the infants with involuntary movements, five were exclusively breastfed until the time of diagnosis. The majority of infants in Group II had choreoathetoid movements; twitching and myoclonus in the face, tongue, and lips, and tremor in the upper extremities. These involuntary movements disappeared in one to three weeks after clonazepam therapy. In Group I; shaking movements, myoclonus, tremor, and twitching or protrusion were observed in patients' hands, feet, tongue, and lips on the 3rd-5th day of cobalamin supplementation. These involuntary movements disappeared within 5-12 days of clonazepam therapy.

Conclusion: Recognition of nutritional cobalamin deficiency is important to perform a differential diagnosis of the condition from seizures or other causes of involuntary movements and avoid aggressive therapy and over treatment.

目的方法:我们查阅了钴胺素缺乏症婴儿的病历,并将出现不自主运动的婴儿分为两组,即在补充维生素 B12 期间出现不自主运动的婴儿(I 组)和在补充维生素 B12 之前出现不自主运动的婴儿(II 组):我们共对 32 名诊断为钴胺素缺乏症的婴儿进行了评估。32 名婴儿中有 12 名出现不自主运动。第一组和第二组各有 6 名婴儿。在出现不自主运动的婴儿中,有 5 名婴儿在确诊前一直是纯母乳喂养。第二组中的大多数婴儿都有舞蹈动作;面部、舌头和嘴唇抽搐和肌阵挛,以及上肢震颤。这些不自主运动在氯硝西泮治疗一至三周后消失。在第一组中,补充钴胺素的第 3-5 天,患者的手、脚、舌头和嘴唇出现抖动、肌阵挛、震颤、抽搐或突出。这些不自主运动在氯硝西泮治疗的 5-12 天内消失:结论:认识到营养性钴胺素缺乏症对于鉴别诊断该病与癫痫发作或其他原因引起的不自主运动以及避免激进治疗和过度治疗非常重要。
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引用次数: 0
The Derivation of Epigastric Motion to Assess Neonatal Breathing and Sleep: An Exploratory Study. 推导上腹部运动以评估新生儿呼吸和睡眠:一项探索性研究
IF 1.2 4区 医学 Q3 PEDIATRICS Pub Date : 2024-07-01 Epub Date: 2023-09-06 DOI: 10.1055/a-2135-2163
Guido Stichtenoth, Niclas Knottnerus-Meyer, Jonas Helmstetter, Marco Maass, Egbert Herting

Introduction: New non-medical monitors are offered for respiration monitoring of neonates. Epigastric motion during sleep was investigated by means of a wearable tracker in parallel to clinical monitoring.

Cohort: 23 hospitalised neonates ready for discharge.

Methods: A 3-axes-accelerometer and -gyroscope was placed in a standard epigastric position. Between two routine care rounds signals were recorded in parallel to monitoring of impedance pneumography (IP), ECG and pulse oximetry. Motion signals vs. time charts were evaluated using 10-min episodes and semiquantitatively assigned to breathing signal quality, regular breathing, periodic breathing and confounding artefacts. The results were compared with the impedance pneumographic data.

Results: 26 recordings (mean duration: 210 min/infant) were conducted without bradycardia or apnea alarm. The gestational age at birth ranged 28.9 to 41.1 and at recording from 35.6 to 42.3 postmenstrual weeks. Motion patterns of quiet sleep with regular breathing, periodic breathing and active sleep with confounding body movements were found. The longitudinal and transversal gyroscope axes resulted in best signal quality. Periodic breathing was found in up to 80% of episodes and decreased inversely with gestational age showing significantly more periodic breathing in preterm infants. Respiration signals of the gyroscope vs. IP showed a low bias and highly variating frequencies.

Conclusions: Standardized motion trackers may detect typical neonatal breathing and body-motion-patterns, that could help to classify neonatal sleep. Respiratory rates can only be determined during quiet sleep.

介绍:新的非医疗监测仪可用于新生儿的呼吸监测。方法:将一个三轴加速计和陀螺仪置于标准上腹位置:方法:在标准上腹位置放置一个三轴加速计和陀螺仪。在两次例行护理查房期间,在监测阻抗气动图(IP)、心电图和脉搏血氧仪的同时记录运动信号。用 10 分钟的时间对运动信号与时间图表进行评估,并对呼吸信号质量、规律呼吸、周期性呼吸和混杂假象进行半定量分析。结果:26 次记录(平均持续时间:210 分钟/婴儿)均无心动过缓或呼吸暂停报警。婴儿出生时的胎龄为 28.9 到 41.1 周,记录时的胎龄为月经后 35.6 到 42.3 周。发现的运动模式为安静睡眠伴有规律呼吸、周期性呼吸和活跃睡眠伴有肢体运动。纵向和横向陀螺仪轴的信号质量最好。发现周期性呼吸的次数高达 80%,并随胎龄呈反比下降,表明早产儿的周期性呼吸明显增多。陀螺仪与 IP 的呼吸信号偏差小,频率变化大:结论:标准化运动追踪器可检测出典型的新生儿呼吸和身体运动模式,有助于对新生儿睡眠进行分类。呼吸频率只能在安静睡眠时确定。
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引用次数: 0
NPHP3-Related Disease: A Possible Risk Factor for Developing Encapsulating Peritoneal Sclerosis. NPHP3相关疾病:腹膜包裹性硬化症的一个可能风险因素
IF 1.2 4区 医学 Q3 PEDIATRICS Pub Date : 2024-07-01 Epub Date: 2023-03-17 DOI: 10.1055/a-2000-5339
Michaela Sibikova, Filip Fencl, Jan David, Karel Vondrak, Nadezda Simankova, Miroslava Balascakova, Jana Indrakova, Shenali Anne Amaratunga, Jan Lebl
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引用次数: 0
Long Term Follow-Up Of Patients With Nonrefluxing Hydronephrosis. 非反流性肾积水患者的长期随访。
IF 1.2 4区 医学 Q3 PEDIATRICS Pub Date : 2024-07-01 Epub Date: 2023-11-21 DOI: 10.1055/a-2183-8351
Songül Yılmaz, Zeynep Birsin Özçakar, Nilgun Cakar, Burcu Biral Coşkun, Berk Burgu, Fatoş Yalcinkaya

Backgound: The aim of this study is to examine the long-term prognosis of children with ureteropelvic junction obstruction-like hydronephrosis (UPJO-like HN).

Patients and methods: The files of children with hydronephrosis (HN) were analyzed retrospectively. Patients with vesicoureteral reflux (VUR) and other genitourinary anomalies were excluded. The final status of the HN, the need for surgery, and urinary tract infection (UTI) frequency were evaluated.

Results: The study included 219 patients with 302 renal units (RU) with HN. Surgery rate was higher in RUs with larger kidney size and parenchymal thinning (p:<0.001 for both). Hydronephrosis resolved in 113 (40.2%) RUs, improved in 66 (23.3%), unchanged in 100 (35.5%) and worsened in 4 (1.4%). The frequency of recovery and improvement was found to be less in RUs with severe HN, large kidney size, and thin parenchyma. The UTI frequency was higher in severe HN group (12.2% vs 30.6% p:<0.001).

Conclusions: Children with mild HN had an excellent prognosis. Although the majority of the patients with high-grade HN had also a good prognosis, it seems important to closely follow up patients with severe HN, increased kidney size, and accompanying parenchymal thinning. Clinicians should be aware of the increased frequency of UTIs in children with severe HN.

背景:本研究的目的是探讨儿童肾盂输尿管连接处梗阻性肾盂积水(UPJO-like HN)的长期预后。患者与方法:回顾性分析小儿肾积水(HN)的临床资料。排除膀胱输尿管反流(VUR)和其他泌尿生殖系统异常的患者。评估HN的最终状态、手术的需要和尿路感染(UTI)的频率。结果:该研究包括219例302肾单位(RU) HN患者。结论:轻度HN患儿预后良好。虽然大多数高级别HN患者预后良好,但对严重HN患者密切随访,肾脏增大,并伴有实质变薄似乎很重要。临床医生应该意识到严重HN患儿中尿路感染的频率增加。
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引用次数: 0
Small Bowel Obstruction in a 13-month-old Child Following Ingestion of Expanding Water-Absorbing Recreational Beads. 一名 13 个月大的儿童因摄入膨胀吸水娱乐珠导致小肠梗阻。
IF 1.2 4区 医学 Q3 PEDIATRICS Pub Date : 2024-07-01 Epub Date: 2023-04-18 DOI: 10.1055/a-2055-9260
Goetz Wehl, Katerina Weber, Ernst-Wilhelm Horling, Katharina Schiller, Stefan Maier, Markus Rauchenzauner
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引用次数: 0
Pediatric Syncope: Is the Diagnostic Guideline Implemented and Adhered to? 小儿晕厥:诊断指南是否得到执行和遵守?
IF 1.2 4区 医学 Q3 PEDIATRICS Pub Date : 2024-07-01 DOI: 10.1055/a-2345-3343
Diane Gatamova, Wieland Kiess, Robert DallaPozza, Andreas Merkenschlager

Background: We sought to investigate adherence to the current pediatric syncope guideline in the emergency department and its impact on the frequency of missed or unnecessary diagnostic measures. For the first time, in 2014 updated guideline defines indispensable basic diagnostic measures and a consecutive algorithm for safe clinical decision making.

Patients and method: We analyzed retrospectively 314 pediatric patients, 166 were presented before and 148 after publication of this guideline update.

Results: After guideline publication, 54 patients (36.5%) were not treated in accordance with the guideline and 2 (0.63%) cases caused by epileptic seizures were initially misdiagnosed as reflex syncope. Among these 54 patients, 32 (59.3%) inpatient admissions were inappropriate, as well as 11 (20.4%) electroencephalographies, 4 (7.4%) sleep-deprivation EEGs, 2 (3.7%) magnetic resonance imaging, 5 (9.3%) urine diagnostics and 32 (59.3%) blood tests. In 21 cases (38.9%), the medical history was insufficient. ECG was missed in 42 patients (77.8%). There was no significant difference between the pre- and post-guideline groups concerning diagnostic work-up (p=0,12).

Discussion: This non-compliance with the guideline did not cause a large number of misdiagnosed epileptic seizures (1.4%) or adverse outcomes but led to waste of resources in healthcare system and undue burdens on patients and their families.

Conclusion: In addition to establishment of clinical guidelines, the need for additional measures and strategies to promote their implementation seems obvious.

背景:我们试图调查急诊科对现行儿科晕厥指南的遵守情况及其对漏诊或不必要诊断措施频率的影响。2014 年更新的指南首次定义了不可或缺的基本诊断措施和安全临床决策的连续算法:我们对 314 例儿科患者进行了回顾性分析,其中 166 例是在指南更新发布之前,148 例是在指南发布之后:结果:指南发布后,54 例患者(36.5%)未按照指南进行治疗,2 例(0.63%)由癫痫发作引起的病例最初被误诊为反射性晕厥。在这 54 名患者中,32 人(59.3%)住院治疗不当,11 人(20.4%)脑电图检查不当,4 人(7.4%)睡眠不足脑电图检查不当,2 人(3.7%)磁共振成像检查不当,5 人(9.3%)尿液诊断不当,32 人(59.3%)血液检查不当。有 21 例患者(38.9%)病史不足。42 名患者(77.8%)未进行心电图检查。指南实施前和实施后两组在诊断工作方面没有明显差异(P=0.12):讨论:不遵守指南并没有导致大量癫痫发作误诊(1.4%)或不良后果,但却造成了医疗系统的资源浪费,给患者及其家属带来了不必要的负担:除制定临床指南外,显然还需要采取更多措施和策略来促进指南的实施。
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引用次数: 0
Diagnosis and Surgical Management of Pulmonary Artery Sling: A Case Report. 肺动脉吊带的诊断和手术治疗:病例报告
IF 1.2 4区 医学 Q3 PEDIATRICS Pub Date : 2024-07-01 DOI: 10.1055/a-2348-0443
Ismail Yurtsever, Hafize Otcu Temur, Can Yilmaz Yozgat, Ahmet Berk Erol, Hazar Dogus Kus, Faraz Talebazadeh, Yilmaz Yozgat
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引用次数: 0
Ollier Disease with Ovarian Juvenile Granulosa Cell Tumor in a Child. 儿童卵巢幼年颗粒细胞瘤合并奥利尔病(Ollier Disease with Ovarian Juvenile Granulosa Cell Tumor)。
IF 1.2 4区 医学 Q3 PEDIATRICS Pub Date : 2024-06-28 DOI: 10.1055/a-2334-3021
Yufei Zhao, Xianmei Jin
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引用次数: 0
COVID-19 vaccination among adolescents and young adults with chronic kidney conditions: a single-center experience. 在患有慢性肾病的青少年中接种 COVID-19 疫苗:单中心经验。
IF 1 4区 医学 Q3 PEDIATRICS Pub Date : 2024-05-31 DOI: 10.1055/a-2319-2648
Demet Baltu, Eda Didem Kurt-Sukur, Tugba Tastemel Ozturk, Bora Gulhan, Fatih Ozaltin, Ali Duzova, Rezan Topaloglu

Background: Following the pandemic of COVID-19, the main focus has been on COVID-19 vaccines and herd immunity. Although the safety of the COVID-19 vaccines has been shown in clinical trials, children with chronic diseases were not included. We investigated the side effect profile and safety of the COVID-19 vaccines in adolescents with kidney disease.

Methods: A questionnaire including demographic information, history of COVID-19, vaccination status, and vaccine-related side effects was administered to the patients with chronic kidney disease (CKD) stage 2-5, glomerular disease treated with immunosuppression, and kidney transplant recipients.

Results: Ninety-eight patients were vaccinated with CoronaVac-inactivated SARS-CoV-2 (n=16) or BNT162b2 messenger RNA (mRNA) COVİD-19 (n=82) vaccine. The mean age was 16.90±2.36 years. The most common side effects were local pain, fatigue, and fever. No serious side effects or renal disease flare were observed. There was no significant difference in the side effects reported after the BNT162b2 mRNA-RNA as compared to the Corona Vac-inactivated SARS-CoV-2 vaccine. No significant relationship was found between the frequency of side effects according to age, glomerular filtration rate, immunosuppressive treatments, CKD stage, and the underlying disease.

Conclusion: Although the reported data are subjective because they were obtained through a questionnaire and studies with long-term follow-up are needed, our early experience suggests that the vaccine is safe and adolescents and young adults should be encouraged to be vaccinated.

背景:COVID-19 大流行之后,人们主要关注 COVID-19 疫苗和群体免疫。尽管 COVID-19 疫苗的安全性已在临床试验中得到证实,但患有慢性疾病的儿童并未被纳入其中。我们对患有肾病的青少年接种 COVID-19 疫苗的副作用和安全性进行了调查:方法:我们对患有慢性肾脏病(CKD)2-5 期、接受免疫抑制治疗的肾小球疾病和肾移植受者的患者进行了问卷调查,内容包括人口统计学信息、COVID-19 疫苗接种史、疫苗接种情况和疫苗相关副作用:98名患者接种了CoronaVac灭活SARS-CoV-2疫苗(16人)或BNT162b2信使RNA(mRNA)COVİD-19疫苗(82人)。平均年龄为(16.90±2.36)岁。最常见的副作用是局部疼痛、疲劳和发热。未发现严重副作用或肾病复发。接种 BNT162b2 mRNA-RNA 与接种 Corona Vac 灭活 SARS-CoV-2 疫苗后出现的副作用没有明显差异。副作用的频率与年龄、肾小球滤过率、免疫抑制治疗、慢性肾脏病分期和基础疾病之间没有明显关系:尽管报告的数据是通过问卷调查获得的,因此具有一定的主观性,而且还需要进行长期随访研究,但我们的早期经验表明疫苗是安全的,因此应鼓励青少年和年轻人接种疫苗。
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引用次数: 0
An Adolscent Boy with Nutcracker-Syndrome and IgA Nephropathy. 一名患有胡桃夹子综合征和 IgA 肾病的新月男孩。
IF 1 4区 医学 Q3 PEDIATRICS Pub Date : 2024-05-06 DOI: 10.1055/a-2296-2377
Cengiz Zeybek, Bedriye Nuray Alpman, Ertuğrul Çelik
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引用次数: 0
期刊
Klinische Padiatrie
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