• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.1
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• pp.15-20
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• 2022

The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.

• Microbiology and Biotechnology Letters
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• v.45 no.4
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• pp.358-364
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• 2017

Asymmetric PCR preferentially amplifies one DNA strand for use in DNA hybridization studies. Linear-After-The-Exponential-PCR (LATE-PCR) is an advanced asymmetric PCR method which uses innovatively designed primers at different concentrations. This study aimed to optimise LATE-PCR parameters to produce single-stranded DNA of Candida spp. and Aspergillus spp. for detection via probe hybridisation. The internal transcribed spacer (ITS) region was used to design limiting primer and excess primer for LATE-PCR. Primer annealing and melting temperature, difference of melting temperature between limiting and excess primer and concentration of primers were optimized. In order to confirm the presence of single-stranded DNA, the LATE-PCR product was hybridised with digoxigenin labeled complementary oligonucleotide probe specific for each fungal genus and detected using anti-digoxigenin antibody by dot blotting. Important parameters that determine the production of single-stranded DNA in a LATE-PCR reaction are difference of melting temperature between the limiting and excess primer of at least $5^{\circ}C$ and primer concentration ratio of excess primer to limiting primer at 20:1. LATE-PCR products of Candida albicans, Candida parapsilosis, Candida tropicalis and Aspergillus terreus at up to 1:100 dilution and after 1 h hybridization time, successfully hybridised to respective oligonucleotide probes with no cross reactivity observed between each fungal genus probe and non-target products. For Aspergillus fumigatus, LATE-PCR products were detected at 1:10 dilution and after overnight hybridisation. These results indicate high detection sensitivity for single-stranded DNA produced by LATE-PCR. In conclusion, this advancement of PCR may be utilised to detect fungal pathogens which can aid the diagnosis of invasive fungal disease.

• Radiation Oncology Journal
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• v.2 no.2
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• pp.287-297
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• 1984

The normal intracranial structures are relatively resistant to therapeutic radiation, but may react adversely in a variety of ways, and the damage to nerve tissue may be slow in making its appearance, and once damage has occured the patient recovers slowly and incompletly. Therefore, it is important to consider the possibility of either recurrent tumor or late adverse effect in any patient who has had radiotherapy. The determination o( rnorphological/pathological correlation is very important to the therapeutic radiologist who uses CT scans to define a treatment volume, as well as to the clinician who wishes to explain the patient's clinical state in terms of regress, progression, persistence, or recurrence of tumor or radiation-induced edema or necrosis, The authors are obtained as following results ; 1. The field size(whole CNS, large, intermediate, small field) was variable according to the location and extension of tumor and histopathologic diagnosis, and the tatal tumor dose was 4,000 to 6,000 rads except one of recurred case of 9,100 rads. The duration of follow up CT scan was from 3 months to 5 year 10 months. 2, The histopathologic diagnosis of 9cases were glioblastoma multiforme(3 cases), pineal tumor (3), oligodendroglioma (1), cystic astrocytoma (1), pituitary adenoma (1) and their adverse effects after radiation therapy were brain atrophy (4 cases) , radiation necrosis(2), tumor recurrence with or without calcification (2), radiation·induced infarction (1). 3. The recurrent symptoms after radiation therapy of brain tumor were not always the results of regrowth of neoplasm, but may represent late change of irradiated brain. 4. It must be need that we always consider the accurate treatment planning and proper treatment method to reduce undesirable late adverse effects in treatment of brain tumors.

• Journal of Korean Neurosurgical Society
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• v.48 no.6
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• pp.518-523
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• 2010

Objective : Chronic subdural hematoma (CSDH) is known to have a significant recurrence rate. There are different criteria defining the recurrence of CSDH. We evaluated the postoperative course of CSDH and tried to propose the reasonable criteria of recurrence. Methods : We retrospectively examined the medical records and pre- and postoperative CT scans of 149 consecutive patients who underwent surgery from January 2005 to December 2009. Diagnosis was confirmed by CT scanning or MRI. The postoperative courses were either resolved or recurrent. The resolved CSDH was one of the three types; early resolution, delayed resolution, or late resolution. The recurrent CSDH was one of the four types; recurrence without resolution, early recurrence after resolution, late recurrence after resolution, or recurrent-and-resolved type. Results : The CSDH was resolved within 30 days after surgery in 58 (39%) patients, between 1 to 3 months in 62 (42%), and after 3 months in 11 (7%) patients. The CSDH was recurred in 18 (12%) patients. Late resolution or recurrence was more common in the aged. The recurrent hematoma was seen on the same side in 11 patients, on the different side in 7 patients. Recurrence was significantly more common in the thick hematomas. Conclusion : For a working criteria of the recurrence of CSDH, we propose the early recurrence as return of symptoms or reaccumulation of the hematoma after a surgery within 3 months regardless of the location, amount or repeated operations. The late recurrence can be defined as reappearance or enlargement of a liquefied hematoma within the cranial cavity surrounded by the membranes or persistent CSDH beyond 3 months after surgery.

• Journal of the Korean society of biological therapies in psychiatry
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• v.24 no.3
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• pp.202-208
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• 2018

Objectives : The purpose of this study was to investigate the differences in forensic demographic characteristics, interpersonal problems and personality disorder between early and late onset criminal patients with schizophrenia. Methods : The participants included 187 inpatients with schizophrenia who had committed crimes. They filled out the Korean Inventory of Interpersonal Problem Personality Disorder Scales and Psychopathic Personality Inventory-Revised. They were divided into early onset group and late onset group according to onset age of schizophrenia at 26 years old(under 26 versus 26 and older) and forensic demographic characteristics, interpersonal problem and personality disorders including psychopathy were compared between two groups. Results : There were no differences in gender, education years and family history between the two groups. Early onset group was associated with lower age, earlier onset of age and earlier age at the time of the crime. Duration from onset to diagnosis was not different between the two groups. Duration from onset to crime and after diagnosis to crime was shorter in late onset group. There were no differences between the two groups in the interpersonal problems, personality disorder and psychopathic personality evaluation. Conclusion : These results suggested that there may be forensic demographic differences related to crime between early and later onset schizophrenia. Psychiatrists should consider the age at onset of schizophrenia when assessing the risk of violence in patients with schizophrenia. In the future. it will be needed other study of age classification such as admixture analysis.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.43 no.2
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• pp.115-119
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• 2017

Maxillofacial images must be examined to find pathologies not identified during clinical examination. Unicystic ameloblastoma (UA) extending to the mandibular body and ramus was neglected on initial panoramic radiographic examination. After orthodontic therapy, a huge lesion was observed clinically and through imaging exams. After the conservative surgery, no recurrence was observed during five years of follow-up. This case emphasized the need for careful evaluation of patient images focusing on the oral diagnosis before any dental treatment planning, including orthodontic therapy.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.9
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• pp.3873-3877
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• 2014

Melanoma of the skin is a malignant tumor, which incidence is still increasing. It was estimated that in the United States one person died from this cause every hour. The major risk factor of this disease is exposure to ultraviolet radiation, especially associated with the occurrence of sunburns. Patients diagnosed with distant metastases have median survival of 6-9 months. The aim of this paper was to identify the causes of delayed diagnosis of melanoma as diagnosis at an early stage seems to be the key to improve the survival rates. For this purpose, a search of medical databases such as PubMed, Google Scholar and Cancer Registers was conducted and an analysis of the literature from the years 1979-2013 was conducted.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.94-107
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• 2005

Prenatal diagnosis (PND) such as amniocentesis or chorionic villi sampling has been widely used in order to prevent the birth of babies with defects especially in families with single gene disorderor chromosomal abnormalities. Preimplantation genetic diagnosis (PGD) has already become an alternative to traditional PND. Indications for PGD have expanded beyond those practices in PND (chromosomal abnormalities, single gene defects), such as late-onset diseases with genetic predisposition, and HLA typing for stem cell transplantation to affected sibling. After in vitro fertilization, the biopsied blastomere from the embryo is analyzed for single gene defect or chromosomal abnormality. The unaffected embryos are selected for transfer to the uterine cavity. Therefore, PGD has an advantage over PND as it can avoid the risk of pregnancy termination. In this review, PGD will be introduced and application of PGD in inborn error metabolic disorder will be discussed.

• Journal of Korean Neurosurgical Society
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• v.52 no.5
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• pp.498-500
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• 2012

Cranioplasty is performed using autograft and allograft materials on patients to whom craniectomy was applied previously due to the facts that, this region is open to trauma and the scalp makes irritation and pressure onto the brain paranchyma causing brain atrophy and convulsions. Dramatical improvement of neurological deficits, control of convulsions and partial prevention of cerebral atrophy are achieved after these operations. One of the most important complications of cranioplasty is late infection. Here, we report a 43-year-old male patient admitted with the history of purulant discharge from the right temporal incission site for one year to whom cranioplasty had been performed with allograft material 20 days after craniectomy which had been performed in 1989. Allograft cranioplasty material was removed and cranioplasty was performed using new allograft material with the diagnosis of late cranioplasty infection.

• Clinical and Experimental Pediatrics
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• v.53 no.11
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• pp.931-935
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• 2010

Juvenile idiopathic arthritis (JIA) is comprised of a heterogeneous group of several disease subtypes that are characterized by the onset of arthritis before the age of 16 years and has symptoms lasting at least 6 weeks. The previous classification of JIA included seven different categories, whereas its current classification was compiled by the International League of the Association for Rheumatology, and replaced the previous terms of "juvenile chronic arthritis" and "juvenile rheumatoid arthritis," which were used in Europe or North America, respectively, with the single nomenclature of JIA. As mentioned above, JIA is defined as arthritis of unknown etiology that manifests itself before the age of 16 years and persists for at least 6 weeks, while excluding other known conditions. The clinical symptoms of JIA can be quite variable. Several symptoms that are characteristic of arthritis are not necessarily diagnostic of JIA and may have multiple etiologies that can be differentiated with careful examination of patient history. The disease may develop over days or sometimes weeks, thereby making the diagnosis difficult at the time of presentation. To make a clinical diagnosis of JIA, the first step is to exclude arthritis with known etiologies. Of note, late treatment due to excessive delay of diagnosis can cause severe damage to joints and other organs and impair skeletal maturation. Therefore, early detection of JIA is critical to ensure prompt treatment and to prevent long-term complications including the likelihood of disability in childhood.