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Case reports in pediatrics 81건

  1. [해외논문]   Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum  

    Curiati, Marco Antonio (Reference Center for Inborn Errors of Metabolism (CREIM), Department of Pediatrics, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil ) , Kyosen, Sandra Obikawa (Reference Center for Inborn Errors of Metabolism (CREIM), Department of Pediatrics, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil ) , Pereira, Vanessa Gonç (Laboratory for Inborn Errors of Metabolism, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil ) , alves (Department of Pathology, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil ) , Patrí (Reference Center for Inborn Errors of Metabolism (CREIM), Department of Pediatrics, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil) , cio, Francy Reis da Silva , Martins, Ana Maria
    Case reports in pediatrics v.2018 ,pp. 1 - 5 , 2018 , 2090-6803 ,

    초록

    Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.

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    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

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    Fig. 1 이미지
  2. [해외논문]   Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V  

    Chung, Peter (Children's Memorial Hermann Hospital, Houston, TX, USA ) , Northrup, Hope (Children's Memorial Hermann Hospital, Houston, TX, USA ) , Azmath, Misbah (Children's Memorial Hermann Hospital, Houston, TX, USA ) , Mosquera, Ricardo A. (Children's Memorial Hermann Hospital, Houston, TX, USA ) , Moody, Shade (Children's Memorial Hermann Hospital, Houston, TX, USA ) , Yadav, Aravind (Children's Memorial Hermann Hospital, Houston, TX, USA)
    Case reports in pediatrics v.2018 ,pp. 1 - 4 , 2018 , 2090-6803 ,

    초록

    Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene. We postulate that this variant is the cause of dHMN-V in this family, leading to variable phenotypical expressions that are earlier than reported in previous cases. The exact cause for the observed clinical heterogeneity within the family is unknown. One explanation is that there are modifier genes that affect the phenotype. These cases highlight the possibility of considering pathogenic variants in the GARS gene as a potential cause of early onset axonal polyneuropathy with atypical presentation.

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    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

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    Fig. 1 이미지
  3. [해외논문]   Long-Term Consequences of Fetal Angiotensin II Receptor Antagonist Exposure  

    Wegleiter, K. (Department of Pediatrics II, Neonatology and Neonatal Intensive Care Unit, Medical University of Innsbruck, Innsbruck, Austria ) , Waltner-Romen, M. (Department of Pediatrics II, Neonatology and Neonatal Intensive Care Unit, Medical University of Innsbruck, Innsbruck, Austria ) , Trawoeger, R. (Department of Pediatrics II, Neonatology and Neonatal Intensive Care Unit, Medical University of Innsbruck, Innsbruck, Austria ) , Kiechl-Kohlendorfer, U. (Department of Pediatrics II, Neonatology and Neonatal Intensive Care Unit, Medical University of Innsbruck, Innsbruck, Austria ) , Griesmaier, E. (Department of Pediatrics II, Neonatology and Neonatal Intensive Care Unit, Medical University of Innsbruck, Innsbruck, Austria)
    Case reports in pediatrics v.2018 ,pp. 1 - 3 , 2018 , 2090-6803 ,

    초록

    Fetal angiotensin II receptor antagonist exposure is associated with major complications and even death when administered during pregnancy. Neonates frequently require intensive care treatment, and mortality is high. Despite this well-known risk potential, a considerable number of women still receive angiotensin II receptor antagonists during pregnancy to treat arterial hypertension. Although clinical symptoms in the neonatal period are well described, few reports address long-term follow-up after fetal exposure to angiotensin II receptor antagonists. We here report on a patient who was unwittingly exposed to olmesartan medoxomil during pregnancy. After birth, the neonate presented with mild clinical symptoms, mainly affecting the kidneys. However, neurodevelopmental follow-up revealed a delay in motor development with muscular hypotonia and failure to thrive at age 2 years. This case highlights the fact that, despite not causing neurological symptoms in the neonatal period, fetal angiotensin II receptor antagonist exposure during pregnancy might lead to neurodevelopmental impairment in later life.

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    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  4. [해외논문]   Paroxysmal Nocturnal Dyspnea Secondary to Right Ventricular Myxoma: A Novel Presentation of an Unusual Tumor  

    Knight, Tristan E. (Division of Pediatric Hematology and Oncology, Department of Pediatrics, Children's Hospital of Michigan, Detroit, MI, USA ) , Shiramizu, Bruce (Division of Pediatric Hematology and Oncology, Department of Pediatrics, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI, USA ) , Ly, Princeton (Department of Pediatrics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA ) , Thompson, Karen S. (Department of Pathology, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI, USA ) , Reddy, Venu (Division of Pediatric Cardiology, Department of Pediatrics, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI, USA)
    Case reports in pediatrics v.2018 ,pp. 1 - 3 , 2018 , 2090-6803 ,

    초록

    A 14-month-old male presented with paroxysmal nocturnal dyspnea and grade III/VI systolic ejection murmur at the upper left sternal border with an S4 gallop and was subsequently found to have a right ventricular cardiac myxoma. Prior presentations of these tumors have been with exertional syncope and murmur, asymptomatic murmur, or exertional dyspnea; the presentation of such a tumor with paroxysmal nocturnal dyspnea is novel.

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    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  5. [해외논문]   It Is Not Always Sepsis: Fatal Tachypnea in a Newborn  

    Levene, Rachel (Department of Pediatrics, SUNY Downstate Medical Center, Brooklyn, NY, USA ) , Pollak-Christian, Elza (Department of Pediatrics, Neonatal-Perinatal Section, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA ) , Garg, Ashish (Department of Pediatric Cardiology, University of Miami, Miami, FL, USA ) , Keenaghan, Michael (Department of Pediatrics, Kings County Hospital Center, Brooklyn, NY, USA)
    Case reports in pediatrics v.2018 ,pp. 1 - 3 , 2018 , 2090-6803 ,

    초록

    Coarctation of the aorta (CoA) is a congenital cardiac malformation that is well understood. Despite being well characterized, CoA is a commonly missed congenital heart disease (CHD) during the newborn period. We report a full-term nine-day-old male who presented to the pediatric emergency department (ED) with isolated tachypnea. After an initial sepsis workup, subsequent investigations revealed critical CoA. Because the primary workup focused on sepsis, there was a significant delay in prostaglandin E1 (PGE1) initiation. This case illustrates the importance of early CoA recognition and timely initiation of PGE1 in newborns who present with suspected sepsis along with tachypnea.

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    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  6. [해외논문]   Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus  

    Vergine, Gianluca (Department of Pediatrics, Infermi Hospital, Rimini, Italy ) , Fabbri, Elena (Department of Pediatrics, Infermi Hospital, Rimini, Italy ) , Pedini, Annalisa (Department of Pediatrics, Infermi Hospital, Rimini, Italy ) , Tedeschi, Silvana (Medical Genetics Laboratory, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy ) , Borsa, Niccolò (Medical Genetics Laboratory, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy)
    Case reports in pediatrics v.2018 ,pp. 1 - 3 , 2018 , 2090-6803 ,

    초록

    Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

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    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  7. [해외논문]   Bronchogenic Cyst as an Unusual Cause of a Persistent Cough and Wheeze in Children: A Case Report and Literature Review  

    Abushahin, Ahmed (Division of Pediatric Pulmonology, Hamad Medical Corporation, Doha, Qatar ) , Zarroug, Abdulla (Department of Pediatric Surgery, Sidra Medical and Research Center, Doha, Qatar ) , Wagdi, Magda (Division of General Pediatrics, Hamad Medical Corporation, Doha, Qatar ) , Janahi, Ibrahim (Division of Pediatric Pulmonology, Hamad Medical Corporation, Doha, Qatar)
    Case reports in pediatrics v.2018 ,pp. 1 - 4 , 2018 , 2090-6803 ,

    초록

    Wheezing and cough are common case scenarios that pediatricians encountered in their office practices. Although a bronchogenic cyst is an uncommon condition, it is essential to be considered in the differential diagnosis of a chronic cough and wheezing among young children who fail to respond to appropriate medical treatment. A 28-month-old girl was referred to our pediatric pulmonology clinic with persistent symptoms of a cough and wheeze unresponsive to standard asthma therapy. This presentation prompted us to undertake a detailed diagnostic evaluation. The evaluation exposed a cystic mass in the middle mediastinum compressing the trachea and left main bronchus. The cyst was excised and confirmed pathologically to be a benign bronchogenic cyst. Subsequently, the patient recovered well and had been free of respiratory symptoms during follow-up visits. This report highlights one of the rare causes of wheezing and cough in young children and emphasizes the importance of considering it in the differential diagnosis of a child presenting with refractory asthma-like symptoms. This is important for early diagnosis and management and to avoid unpredictable complications of this treatable condition.

    원문보기

    원문보기
    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  8. [해외논문]   Urethral Caruncle Presented as Premature Menarche in a 4-Year-Old Girl  

    Gamage, Manori (Department of Paediatrics, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, Sri Lanka ) , Beneragama, D. (Department of Pathology, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, Sri Lanka)
    Case reports in pediatrics v.2018 ,pp. 1 - 2 , 2018 , 2090-6803 ,

    초록

    Urethral caruncle (UC) is a benign fleshy outgrowth at the urethral meatus. It was first described by Samuel Sharp in 1750 and occurs mainly at the posterior lip of the urethra, and the exact aetiology is still uncertain. More often it was seen in the postmenopausal women, and only few cases are reported in young girls. Patients may be asymptomatic and could find this as an incidental finding or they may present with symptoms such as dysuria, bleeding per vagina, haematuria, a mass protruding through vagina, and acute retention of urine. Here, we report the case history of a 4-year-old girl presented with vaginal bleeding which was taken as she has attended menarche and found to have urethral caruncle which was the cause for bleeding. Histology confirmed the diagnosis, and girl was completely cured following surgical excision.

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    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  9. [해외논문]   Lymphatic Drainage of Legs Reduces Edema of the Arms in Children with Lymphedema  

    Pereira de Godoy, Lí (General Clinics in the Medical School of Marilia and Research Group of Clínica Godoy, São Jose do Rio Preto, SP, Brazil ) , via Maria (Medical School of Votuporanga and Research Group of Clínica Godoy, São Jose do Rio Preto, SP, Brazil ) , Pereira de Godoy Capeletto, Paula (Medicine School in São José) , de Fá (do Rio Preto (FAMERP) and Research Group in the Clínica Godoy, Sao Jose do Rio Preto, SP, Brazil ) , tima Guerreiro Godoy, Maria (Cardiology and Cardiovascular Surgery Department of the Medical School in São Jose do Rio Preto (FAMERP) and CNPq (National Council for Research and Development), Sao Jose do Rio Preto, SP, Brazil) , Pereira de Godoy, Jose Maria
    Case reports in pediatrics v.2018 ,pp. 1 - 3 , 2018 , 2090-6803 ,

    초록

    Objective . The aim of the present study is to report on the reduction of edema of lymphedematous arms just by treating the lower limbs. Methods . A 16-year-old girl reported that she has started having right lower limb edema at the age of three. At age 13, she performed a lymphoscintigraphy that confirmed the diagnosis of primary lymphedema of the four limbs. Recently she sought treatment at the ClInica Godoy in SAo Jose do Rio Preto where she was submitted to intensive treatment for eight hours per day for five days using manual (Godoy & Godoy technique) and mechanical lymphatic therapy (RA Godoy ? ) of the lower limbs, cervical lymphatic therapy (cervical stimulation), and the continuous use of a grosgrain stocking. Results . At the end of treatment, reductions in the sizes of both arms and legs were noted even without the use of any specific therapy for the arms. After four years, the size of the arms was normal. Conclusion . Treatment of lymphedema of the legs has systemic repercussions that may lead to the reduction in swelling of other untreated regions of the body.

    원문보기

    원문보기
    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  10. [해외논문]   Corrigendum to “A Rare Cause of Childhood Cerebellitis-Influenza Infection: A Case Report and Systematic Review of Literature”  

    Gö (Ege University Medical Faculty, Department of Pediatrics, General Pediatrics Unit, Ege University, Bornova, Izmir, Turkey ) , kç (Ege University Medical Faculty, Department of Pediatrics, Division of Pediatric Infection Disease, Ege University, Bornova, Izmir, Turkey ) , e, Ş (Ege University Medical Faculty, Department of Pediatrics, Ege University, Bornova, Izmir, Turkey ) , ule (Virology Laboratory, Ege University Medical Faculty, Department of Medical Microbiology, Ege University, Bornova, Izmir, Turkey) , Kurugol, Zafer , Aslan, Aslı , Ç , iç , ek, Candan
    Case reports in pediatrics v.2018 ,pp. 1 - 2 , 2018 , 2090-6803 ,

    초록

    Objective . The aim of the present study is to report on the reduction of edema of lymphedematous arms just by treating the lower limbs. Methods . A 16-year-old girl reported that she has started having right lower limb edema at the age of three. At age 13, she performed a lymphoscintigraphy that confirmed the diagnosis of primary lymphedema of the four limbs. Recently she sought treatment at the ClInica Godoy in SAo Jose do Rio Preto where she was submitted to intensive treatment for eight hours per day for five days using manual (Godoy & Godoy technique) and mechanical lymphatic therapy (RA Godoy ? ) of the lower limbs, cervical lymphatic therapy (cervical stimulation), and the continuous use of a grosgrain stocking. Results . At the end of treatment, reductions in the sizes of both arms and legs were noted even without the use of any specific therapy for the arms. After four years, the size of the arms was normal. Conclusion . Treatment of lymphedema of the legs has systemic repercussions that may lead to the reduction in swelling of other untreated regions of the body.

    원문보기

    원문보기
    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지

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