• Title/Summary/Keyword: Diagnosis delay

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A case of isodicentric chromosome 15 presented with epilepsy and developmental delay

  • Kim, Jon Soo;Park, Jinyu;Min, Byung-Joo;Oh, Sun Kyung;Choi, Jin Sun;Woo, Mi Jung;Chae, Jong-Hee;Kim, Ki Joong;Hwang, Yong Seung;Lim, Byung Chan
    • Clinical and Experimental Pediatrics
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    • v.55 no.12
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    • pp.487-490
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    • 2012
  • We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.

Practical Model to Estimate Road User Cost for Bridge Maintenance Strategy (교량 유지관리 전략 수립을 위한 실용적 도로이용자비용 추정 모델)

  • Park, Kyung-Hoon;Sun, Jong-Wan;Lee, Sang-Yoon;Lee, Jong-Soon;Cho, Hyo-Nam
    • Journal of the Korea institute for structural maintenance and inspection
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    • v.11 no.6
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    • pp.131-142
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    • 2007
  • The road user cost in indirect costs as well as direct costs such as the inspection/ diagnosis cost and the repair/reinforcement cost should be considered as one of the important items in the life-cycle cost-effective design and maintenance of the bridges. To estimate the road user cost, this paper formulates the road user cost as a sum of the user delay cost and the vehicle operating cost considering the detour effect. A numerical traffic simulation and a regression analysis are performed to develop a regression model due to a time delay. The proposed regression model is applied to the generation of the maintenance strategy based on the life-cycle cost and performance, and its effectiveness and applicability is investigated. The road user cost has a great influence on establishing the maintenance strategy, and the proposed regression model could be successfully utilized to estimate the road user cost of a bridge.

A Case of Mucopolysaccharidosis Type 2 Diagnosed Early through Brain MRI (뇌자기공명영상 검사를 통해 조기 발견된 제2형 뮤코다당증 1례)

  • Lee, Yoon kyoung;Cho, Sung Yoon;Kim, Jinsup;Huh, Rimm;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.15 no.2
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    • pp.87-92
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    • 2015
  • Mucopolysaccharidosis (MPS) is an inherited disease entity associated with lysosomal enzyme deficiencies. MPS type 2, also known as Hunter syndrome, has a characteristic morphology primarily involving x-l inked recessive defects and iduronate-2-sulfatase gene mutation. The purpose of this case report is to provide important clues to help pediatricians identify Hunter syndrome patients earlier (i.e., before the disease progresses). A 30-month-old boy showed developmental delay and decreased speech ability. Physical examinations revealed a flat nose and extensive Mongolian spots. Brain magnetic resonance images (MRIs) showed bilateral multiple patchy T2 hyperintense lesions in the periventricular and deep white matter, several cyst-like lesions in the body of the corpus callosum, and diffuse brain atrophy, which were in keeping with the diagnosis. Based on these findings, the patient was suspected of having MPS. In the laboratory findings, although the genetic analysis of IDS (Iduronate-2-sulfatase) did not show any pathogenic variant, the enzymatic activity of IDS was not detected. We could confirm the diagnosis of MPS, because other sulfatases, such as ${\alpha}$-L-iduronidase, were detected in the normal range. Early enzymatic replacement therapy is essential and has a relatively good prognosis. Therefore, early diagnosis should be made before organ damage becomes irreversible, and brain MRIs can provide additional diagnostic clues to help distinguish the disorder.

A Case of Oral Lesions as the Initial Sign in Pemphigus Vulgaris (구강내 병변이 주소인 심상성 천포창 1예)

  • Park Jung Je;Kim Jae Won;Ahn Seong Ki;Jeon Sea Young
    • Korean Journal of Bronchoesophagology
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    • v.10 no.2
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    • pp.72-75
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    • 2004
  • Pemphigus vulgaris is a rin, chronic intraepidermal bullous disease with potentially fatal outcome. Oral lesions precede skin lesions in at least $70\%$ of cases, and in cutaneous disease, concomitant oral lesions are encountered in $90\%$ of patients. This disorder involve the skin and mucous membranes, especially the oral and pharyngeal mucosa, but may also involve the nasal, oropharyngeal, laryngeal and esophageal mucosa. Oral lesions are initially vesicobullous but rapidly rupture, leaving a painful erosion that shows little tendency to heal. Pemphigus vulgaris affecting the oral mucosa is still diagnosed only after considerable delay, because oral ulceration in common, and clinicians believed the lesions to be caused by more common conditions such as recurrent aphthous stomatitis rather than a rare disorder such as pemphigus vulgaris. The definitive diagnosis of pemphigus vulgaris should be undertaken as early as possible, so that treatment can be started at an earl·y stage. Because of the presence of nonspecific oral ulcer, high degree of suspicion is often required to ultimately make the diagnosis of pemphigus vulgaris and then we report a case of pemphigus vulgaris with a literature review.

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Diagnosis and Treatment of Deformational Plagiocephaly (자세성 사두증의 진단과 치료)

  • Chung, Kyu-Jin;Kim, Yong-Ha
    • Archives of Craniofacial Surgery
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    • v.14 no.2
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    • pp.73-80
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    • 2013
  • It is important to distinguish deformational plagiocephaly from craniosynostosis, the two conditions are different with respect to clinical progression and treatment options. Deformational plagiocephaly is diagnosed based on the patient's medical history and physical examination. Until recently, there has been no standardized method of evaluation. Visual assessment, anthropometric assessment, digital scanning, and radiologic evaluation are mostly commonly used modalities for diagnosis and assessment. Treatment of deformational plagiocephaly requires an understanding of natural progression of the disease. Deformational plagiocephaly should be classified according to its severity before the proper method and time for treatment are determined. Treatment includes repositioning, physiotherapy and remodeling with the use of orthotic devices. In general, repositioning is preferred for patients younger than six months old while treatment with the use of orthotic devices such as helmet is preferred for patients over six months old. Moreover, treatment with the use of orthotic devices is also favored for severe plagiocephaly. There is continuing research on the relation between deformational plagiocephaly and developmental delay.

A Characteristic EEG Pattern of Angelman Syndrome

  • Yoon, Joong-Soo;Song, Woon-Heung;Choi, Hwa-Sik
    • Korean Journal of Clinical Laboratory Science
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    • v.42 no.2
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    • pp.97-102
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    • 2010
  • The two new female cases of Angelman syndrome (AS) were described, which diagnosed on the basis of clinical features (dysmorphic facial features, severe mental retardation with absent speech, peculiar jerky movements, ataxic gait and paroxysms of inappropriate laughter) and neurophysiological findings. Failure to detect the deletion of the long arm of chromosome 15 or the absence of epileptic seizure were not considered sufficient to exclude a diagnosis of AS. Feeding problems, developmental delay and early signs of ataxia, especially tremor on handling objects and unstable posture when seated, proved effective as the clinical markers for early diagnosis of AS. Most of the authors agreed about the existence of three main EEG patterns in AS which may appear in isolation or in various combinations in the same patient. The most frequently observed pattern in children has prolonged runs of high amplitude rhythmic 2-3 Hz activity predominantly over the frontal region with superimposed interictal epileptiform discharges. High amplitude rhythmic 4-6 Hz activity, prominent in the occipital regions, with spikes, which can be facilitated by eye closure, is often seen in children under the age of 12 years. The EEG findings are characteristic of AS when seen in the appropriate clinical context and can be helpful to identify AS patients at an early age when genetic counselling may be particularly important.

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A Study on the Properties of Loop System Configured by Coupling 2 PI Controllers for Fault Diagnosis (고장진단을 위한 PI제어기간 직결합 루프시스템의 응답특성에 대한 연구)

  • Choi, Soon-Man;Doo, Hyun-Wook
    • Journal of Advanced Marine Engineering and Technology
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    • v.31 no.6
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    • pp.791-796
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    • 2007
  • When 2 sets of PID controllers are coupled directly each other to configure a closed control loop on behalf of coupling a controller and a plant. the behaviors or this exclusive loop system are expected to be unique in inherent system responses. If its properties be disclosed and generalized well in advance, it is possible for us to use the results for the purpose of fault detection and performance monitoring between control stations from the stage of system design. particularly in such cases as cascade control systems. In this paper. general properties of the proposed system are analyzed firstly to check whether it is controllable and how its steady responses would be. To simplify calculation, the analysis has been performed based on the transfer equation derived from a modelled case which consists of 2 PI controllers and signal converters between them. including time delay element and first-lag element to consider the situation of signal transmission. The results acquired from simulation are suggested to show how it works actually.

Autoimmune encephalitis and epilepsy: evolving definition and clinical spectrum

  • Seo, Joo Hee;Lee, Yun-Jin;Lee, Ki Hyeong;Gireesh, Elakkat;Skinner, Holly;Westerveld, Michael
    • Clinical and Experimental Pediatrics
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    • v.63 no.8
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    • pp.291-300
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    • 2020
  • Advances in autoimmune encephalitis studies in the past 10 years have led to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to the disorder. The disorder or syndrome has been linked to a wide variety of pathologic processes associated with the neuron-specific autoantibodies targeting intracellular and plasma membrane antigens. However, current criteria for autoimmune encephalitis are quite dependent on antibody testing and responses to immunotherapy, which might delay the diagnosis. This form of encephalitis can involve the multifaceted presentation of seizures and unexpected behavioral changes. The spectrum of neuropsychiatric symptoms in children is less definitive than that in adults, and the incorporation of clinical, immunological, electrophysiological, and neuroradiological results is critical to the diagnostic approach. In this review, we document the clinical and immunologic characteristics of autoimmune encephalitis known to date, with the goal of helping clinicians in differential diagnosis and to provide prompt and effective treatment.

Recurrent Dorsal Compartment Syndrome of the Upper Arm After Blunt Trauma

  • Kim, Kyung-Cheon;Rhee, Kwang-Jin;Shin, Hyun-Dae;Byun, Ki-Yong;Yang, Jae-Hoon;Kim, Dong-Kyu;Cha, Soo-Min
    • The Academic Congress of Korean Shoulder and Elbow Society
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    • 2009.03a
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    • pp.160-160
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    • 2009
  • Compartment syndrome is not uncommon in the forearm or lower extremity, but it is relatively rare in the upper arm. This rarity might delay the diagnosis, especially in the unconscious or intoxicated patient. Therefore, a high index of suspicion is needed to make an accurate, early diagnosis. Although excessive muscle strain leading to localized compartment syndrome is seldom encountered in the upper arm, three cases of compartment syndrome in the upper arm after blunt injury have been reported. Interestingly, there were no bony injuries in any of these patients. However, there are only two reports of isolated dorsal compartment syndrome after blunt trauma. The present report presents the case of a patient who had blunt trauma to the upper arm that resulted in the development of compartment syndrome in the isolated dorsal compartment of the upper arm.

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Lumbar stabilization exercises using the sling system (슬링(sling) 시스템을 이용한 요부 안정화 운동)

  • Kim, Suhn-Yeop;Kwon, Jae-Hoak
    • The Journal of Korean Academy of Orthopedic Manual Physical Therapy
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    • v.7 no.2
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    • pp.23-39
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    • 2001
  • Dysfunction of the anterior and dorsal muscles of the trunk have been studied in relation to low back pain of many years. Many muscles of the trunk are capable of contributing to the stabilization and protection of the lumbar spine, recent evidence has suggested that transversus abdominis may be critically involved and has been the focus of rehabilitation. The delay in onset of contraction of trunk muscles associated with movement of the upper or lower limb in patients with low back pain indicates a significant deficit in the automatic motor command for control of disturbance to the spine. The function of transversus abdominis has been largely ignored in the evaluation of spinal stabilization and protection. The most essential stabilizing muscles for the lumbar column are the transversus abdominis and the multifidus. Sling exercise therapy(SET) concept consists of a system of diagnosis and treatment. The system of diagnosis involves testing the muscle's tolerance through progressive loading in open and close kinetic chains. The SET system contains elements such as relaxation, increasing the range of movement, traction, training the stabilizing musculature, sensorimotor exercises, training in open and close kinetic chains, dynamic training of the mobilizing musculature, cardiovasc+ular exercises, group exercise, personal exercise at home. Sensorimotor training is an essential element of the SET concept. The emphasis is on closed kinetic chain exercises on an unstable surface, thereby achieving optimum stimulation of the sensorimotor apparatus.

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