• Title/Summary/Keyword: diagnostic approach

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Cholestasis beyond the Neonatal and Infancy Periods

  • Khalaf, Racha;Phen, Claudia;Karjoo, Sara;Wilsey, Michael
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.19 no.1
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    • pp.1-11
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    • 2016
  • Cholestasis results from impairment in the excretion of bile, which may be due to mechanical obstruction of bile flow or impairment of excretion of bile components into the bile canaliculus. When present, cholestasis warrants prompt diagnosis and treatment. The differential diagnosis of cholestasis beyond the neonatal period is broad and includes congenital and acquired etiologies. It is imperative that the clinician differentiates between intrahepatic and extrahepatic origin of cholestasis. Treatment may be supportive or curative and depends on the etiology. Recent literature shows that optimal nutritional and medical support also plays an integral role in the management of pediatric patients with chronic cholestasis. This review will provide a broad overview of the pathophysiology, diagnostic approach, and management of cholestasis beyond the neonatal and infancy periods.

The Update of Treatment for Primary Intestinal Lymphangiectasia

  • Kwon, Yiyoung;Kim, Mi Jin
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.24 no.5
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    • pp.413-422
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    • 2021
  • Intestinal lymphangiectasia is a rare disease which is causing protein-losing enteropathy. Treatment of intestinal lymphangiectasia can be a challenge for clinicians because of the lack of specific guidelines regarding pharmacological indications. We sought to introduce a diagnostic approach and suggest guidelines for treatment. After exclusion of secondary intestinal lymphangiectasia, magnetic resonance lymphangiography is a promising tool for the assessment of abnormal lymphatic lesions in primary intestinal lymphangiectasia. Determining the extent of the lesion provides direction for treatment options. Focal short-segment intestinal lymphangiectasia can be treated via intestinal resection or radiologic embolization after dietary therapy failure. Diffuse intestinal lymphangiectasia and extensive lymphangiectasia should be treated with several drugs with a full understanding of their mechanisms.

Stereoelectroencephalography in Pediatric Epilepsy Surgery

  • Tomlinson, Samuel B.;Buch, Vivek P.;Armstrong, Dallas;Kennedy, Benjamin C.
    • Journal of Korean Neurosurgical Society
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    • v.62 no.3
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    • pp.302-312
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    • 2019
  • Stereoelectroencephalography (SEEG) is an invasive technique used during the surgical management of medically refractory epilepsy. The utility of SEEG rests in its ability to survey the three-dimensional organization of the epileptogenic zone as well as nearby eloquent cortices. Once concentrated to specialized centers in Europe and Canada, the SEEG methodology has gained worldwide popularity due to its favorable morbidity profile, superior coverage of deep structures, and ability to perform multi-lobar explorations without the need for craniotomy. This rapid shift in practice represents both a challenge and an opportunity for pediatric neurosurgeons familiar with the subdural grid approach. The purpose of this review is to discuss the indications, technique, and safety of long-term SEEG monitoring in children. In addition to reviewing the conceptual and technical points of the diagnostic evaluation, attention will also be given to SEEG-based interventions (e.g., radiofrequency thermo-coagulation).

Clinical genetics of defects in thyroid hormone synthesis

  • Kwak, Min Jung
    • Annals of Pediatric Endocrinology and Metabolism
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    • v.23 no.4
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    • pp.169-175
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    • 2018
  • Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%-15% of congenital hypothyroidism (CH). Seven genes are known to be associated with thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, DUOXA2, and IYD (DHEAL1). Depending on the underlying mechanism, CH can be permanent or transient. Inheritance is usually autosomal recessive, but there are also cases of autosomal dominant inheritance. In this review, we describe the molecular basis, clinical presentation, and genetic diagnosis of CH due to thyroid dyshormonogenesis, with an emphasis on the benefits of targeted exome sequencing as an updated diagnostic approach.

Gallbladder polyps: evolving approach to the diagnosis and management

  • Kim, Kook Hyun
    • Journal of Yeungnam Medical Science
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    • v.38 no.1
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    • pp.1-9
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    • 2021
  • Gallbladder (GB) polyp is a mucosal projection into the GB lumen. With increasing health awareness, GB polyps are frequently found using ultrasonography during health screening. The prevalence of GB polyps ranges between 1.3% and 9.5%. Most patients are asymptomatic and have benign characteristics. Of the nonneoplastic polyps, cholesterol polyps are most common, accounting for 60%-70% of lesions. However, a few polyps have malignant potential. Currently, the guidelines recommend laparoscopic cholecystectomy for polyps larger than 1 cm in diameter due to their malignant potential. The treatment algorithm can be influenced by the size, shape, and numbers of polyps, old age (>50 years), the presence of primary sclerosing cholangitis, and gallstones. This review summarizes the commonly recognized concepts on GB polyps from diagnosis to an algorithm of treatment.

Diagnosis of Nonmigrating Metallic Foreign Bodies in the Abdomen Using Ultrasound: An Alternative Approach Using a Traditional Method

  • Pak, Seong Min;Lee, Yeoun Joo;Hwang, Jae Yeon
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.25 no.1
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    • pp.87-91
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    • 2022
  • Ingestion of foreign bodies (FBs) is a common phenomenon among young children. Plain radiography is the first step diagnostic modality to detect the radio-opaque FBs. And computed tomography has been recommended by several guidelines as useful modalities for diagnosing ingested FBs. However, there is a risk of radiation exposure, making it burdensome to use in asymptomatic patients. Ultrasound (US) is not a commonly used technique for diagnosing ingested foreign bodies. However, US can provide real-time imaging with good resolutions without radiation exposure in pediatric patients. Herein, we report two pediatric cases of metallic foreign body ingestion that were successfully diagnosed using US for localizing foreign bodies. This study indicates that US may be used as an alternative method for detecting the localization of metallic foreign bodies in the gastrointestinal tract without exposure of radiation, particularly in pediatric patients.

Diagnosis of Benign Monomelic Amyotrophy (양성 국소 근위축증의 진단)

  • Byun, Justin;Bang, Meyong Hwan;Park, Jung Hyun
    • Clinical Pain
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    • v.19 no.2
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    • pp.101-105
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    • 2020
  • Benign monomelic amyotrophy (BMA) is a benign motor neuron disease in which amyotrophic change is confined to either the upper or the lower extremities. Numerous cases of BMA have been reported from Japan and India. However, only a few cases have been reported from other regions, including South Korea. Here we report a rare case of late-onset BMA in Korean male using conventional diagnostic approach with magnetic resonance imaging and electromyography. The patient received ten sessions of manual therapy, which focused on strengthening of the left ankle. At two-month follow up, weakness was still isolated to the patient's left ankle. There were no signs of disease progression.

Fault Diagnosis Algorithm for Linear Dynamic System (선형동적 시스템에서의 고장진단 알고리즘)

  • Moon, Bong Chae;Kim, Jee Hong;Kim, Byung Kook;Bien, Zeungnam
    • Journal of the Korean Institute of Telematics and Electronics
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    • v.23 no.6
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    • pp.874-880
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    • 1986
  • A new diagnastic method for detection and location of faults in a linear time-invariant system is proposed. The fault detection algorithm is formulated in a signal space, while the fault location algorithm with estimation is done in a parameter space. In a way different from the conventional approach, the method of fault location with estimation is studied to apply the new concept to establish the models with an unknown parameter under the assumption of 1-fold fault. According to computer simulation, the proposed diagnostic method is effective as an algorithm for fault diagnosis of industdrial process controllers.

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Simultaneous growth of graphene and vertically aligned single-walled carbon nanotubes at low temperature by chemical vapor deposition

  • Hong, Suck Won;Kim, Kwang Ho;Jung, Hyun Kyung;Kim, Daesuk;Lee, Hyung Woo
    • Journal of Ceramic Processing Research
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    • v.13 no.spc1
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    • pp.154-157
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    • 2012
  • We present the simultaneous growth of single-walled carbon nanotubes and graphene with the optimal conditions of the synthesizing parameters. The dense and vertically aligned SWNTs having the length of over 100 ㎛ was grown by 2 nm-thick Fe catalytic layer. From 650 ℃, the vertically well-grown SWNTs were obtained by increasing the temperature. The severallayered graphene was synthesized with the gas mixing ratio of 15 : 1(H2 : C2H2) at 650 ℃ and higher temperatures. With these optimal conditions, the vertically well-grown SWNTs and the several-layered graphene were synthesized simultaneously. The presence of SWNTs and the layer of graphene were verified by field emission scanning electron microscopy and high resolution transmission electron microscopy. From the result of this simultaneous synthesizing approach, the possibility of one step growth process of CNTs and grapheme could be verified.

Tubulopathy: the clinical and genetic approach in diagnosis

  • Jinwoon Joung;Heeyeon Cho
    • Childhood Kidney Diseases
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    • v.27 no.1
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    • pp.11-18
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    • 2023
  • Remarkable advances in genetic diagnosis expanded our knowledge about inherited tubulopathies and other genetic kidney diseases. This review suggests a simple categorization of inherited tubular disease, clarifies the concept of autosomal dominant tubulointerstitial kidney disease (ADTKD), and introduces novel therapies developed for tubulopathies. Facing patients with suspicious tubular disorders, clinicians should first evaluate the status of volume and acid-base. This step helps the clinicians to localize the affected segment and to confirm genetic diagnosis. ADTKD is a recently characterized disease entity involving tubules. The known causative genes are UMOD, MUC1, REN, and HNF1β. Still, only half of ADTKD patients show mutations for these four identified genes. Whole exome sequencing is a suitable diagnostic tool for tubulopathies, especially for ADTKD. Genetic approaches to treat tubulopathies have progressed recently. Despite the practical obstacles, novel therapies targeting inherited tubulopathies are currently in development.