• Korean Journal of Clinical Pharmacy
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• v.32 no.4
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• pp.336-351
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• 2022

Background: Prader-Willi Syndrome (PWS) is a rare genetic disorder. To improve the health deterioration of PWS, investigating optimal treatment options for PWS is required. Thus, we aimed to evaluate the efficacy of pharmacotherapies compared with supportive care or placebos in patients with PWS. Methods: PubMed and EMBASE databases were used to search for randomized controlled trials (RCTs) evaluating the efficacy of pharmacotherapy in PWS patients. Only RCTs that evaluating the efficacy of pharmacotherapy in PWS patients were retrieved. Results: A total of 26 studies were included to evaluate body composition, hormones, glucose levels and hyperphagia behavioral status. Pharmacological treatment group showed a significant decrease of body fat (mean difference (MD): -6.32, 95% confidence interval (CI): -10.58 to -2.06, p=0.004), a significant increase of lean body mass (LBM) (MD: 1.86, 95% CI: 1.43 to 2.30, p<0.00001) and insulin-like growth factor 1 (IGF-1) levels (MD: 241.62, 95% CI: 68.59 to 414.64, p=0.006) compared with the control group. Nevertheless, based on other outcomes evaluated by the current systematic review, pharmacological options showed different efficacy in treating PWS. Conclusion: Pharmacological therapies were effective to decrease significantly in body fat and increase significantly on LBM and IGF-1 levels in patients with PWS. However, still, individualized therapies should be considered in real-world practice in PWS treatment.

• Journal of Korean Neurosurgical Society
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• v.29 no.8
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• pp.1050-1054
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• 2000

Objective : The incidence of head injury has been increasing in the rural area. The author investigated the clinical features and difficulties in care of the acute head-injured patients in this area. Method and Material : The authors performed a retrospective review of radiological data and clinical records in patients with mild to moderate head injury. Cause, type of craniocerebral injury, delayed intracranial lesions, complications, its relation to alcohol abuse, and outcome were analyzed. Results : In total of 68 cases, 20(29.4%) victims were associated with acute alcohol intoxication. Motor vehicle accident was the leading cause of head injury and the most common craniocerebral lesion was basilar skull fracture. Eight(11.8%) patients showed delayed radiological and clinical deterioration and 40(58.8%) were followed-up regularly after discharge. The subdural hygroma was commonly noted in the elderly and alcoholics. Causes of thirty events that resulted in an atypical and difficult neurosurgical practice were as follows : delayed admission, premature discharge against doctor's request, refusal of radiological studies and admission, misunderstanding of disease entity, and unreasonable desire of transfer to tertiary hospitals. Inaccurate initial diagnoses were made by emergency doctors in twenty patients. During the course of treatment, there were a few complications such as alcohol withdrawal, acute otitis media, cerebrospinal fistula, facial weakness, and posttraumatic seizure. Outcome was good in 60(88.2%) patients. Conclusion : Most of minor head trauma patients in this series have shown good results, but we have to consider some possible complications and delayed intracranial lesions in these patients that should be managed with special cautions with various kinds of treatment difficulties.

• Journal of mucopolysaccharidosis and rare diseases
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• v.3 no.1
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• pp.1-8
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• 2017

Mucopolysaccharidosis (MPS) type III, or Sanfilippo syndrome is a rare autosomal recessive lysosomal storage disorder. It is caused by a deficiency of one of four enzymes involved in the degradation of the glycosaminoglycan (GAG) heparan sulfate. The resultant cellular accumulation of heparan sulfate causes various clinical manifestations. MPS III is divided into four subtypes depending on the deficient enzyme: MPS IIIA, MPS IIIB, MPS IIIC and MPS IIID. All the subtypes show similar clinical features and are characterized by progressive degeneration of the central nervous system (CNS). Main purpose of the treatment for MPS III is to prevent neurologic deterioration. However, conventional enzyme replacement therapy has a limitation due to inability to cross the blood-brain barrier. Several experimental treatment options for MPS III are being developed.

• Journal of the Korean Society of Physical Medicine
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• v.5 no.3
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• pp.331-339
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• 2010

Purpose : Cervical spondylotic myelopathy is a varied clinical syndromes and the most serious condition of cervical spondylosis. Spinal cord dysfunction is often caused by the compression on spinal cord. The purpose of this report was to describe physical examination and the process of disorders on cervical spondylotic myelopathy(CSM). Methods : Three cases with cervical myelopathy were presented with magnetic resonance image(MRI), Nurick's grade and Japanese Orthopaedic Association(JOA) score. Results : This studies showed a variable clinical course with gradual neurological deterioration in two cases. but one case was improved by operation and a regular aerobic exercise. MRI, Nurick's grade, JOA score are a useful adjunct for CSM evaluation. Conclusion : The state of CSM is variable, which may affect conservative treatments and surgery. It is needed to be a carefull approach and studies for a conservative treatment and management on CSM.

• Annals of Clinical Neurophysiology
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• v.7 no.1
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• pp.37-42
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• 2005

Acute disseminated encephalomyelitis (ADEM) and acute hemorrhagic leukoencephalitis (Hurst's disease) are rare autoimmune demyelinating disorders, which show a monophasic illness with preceding infection. We report a 42-year-old woman presented with multiphasic and progressive neurologic deterioration without definite evidences of infection. She developed hypesthetic ataxia, followed by ipsilateral weakness after a weak, and finally encephalopathy after a month. In contrast to the first MRI showing a small longitudinal lesion, the next images revealed massive bilateral frontal lesions with hemorrhagic necrosis and biopsy unveiled inflammatory demyelination.

• The Journal of Korean Medicine
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• v.22 no.3
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• pp.169-178
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• 2001

After initial recovery from acute carbon monoxide (CO) intoxication, some patients occasionally undergo severe neuropsychiatric deterioration, which is called postanoxic delayed encephalopathy (sequelae). This is the clinical report about one patient, a 73-year-old man, diagnosed with delayed encephalopathy after acute CO intoxication. The symptoms of the patient were mental dysfunction including memory impairment and disorientation, abnormal behavior, incontinence and mutism. He had completely recovered after an aonxic episode, but the neurological symptoms that developed were preceded by an interval of apparent normality (the 'lucid interval'). We characterized him as suffering deficiency syndrome of the heart and prescribed for him Bokreongbosim-tang and Guipi-tang, and thereafter his symptoms were remarkably improved. For the evaluation of clinical improvement, we use the Modified Barthel Index (MBI), Canadian Neurologic Scale (CNS), and the Korean version of the Mini-Mental State Examination (K-MMSE)

• Journal of Chest Surgery
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• v.50 no.1
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• pp.64-67
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• 2017

A 52-year-old male patient who underwent multiple wedge resections experienced postoperative acute respiratory distress syndrome in both lungs after Viscum album pleurodesis. Despite initial rapid deterioration in clinical condition and rapid progression of bilateral lung infiltration, he exhibited a relatively smooth clinical recovery with marked response to glucocorticoid treatment. Our case report suggests that care must be taken to guard against the development of acute respiratory complications in the use of Viscum album for pleurodesis. However, in view of the clinically benign course, initial aggressive management of complications can prevent suffering and sequelae.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.182-185
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• 2014

GM1 gangliosidosis is a rare autosomal recessively inherited metabolic disease due to deficiency of ${\beta}$-galactosidase caused by mutations in the GLB1 gene. There have been three clinical subgroups in GM1 gangliosidosis, however it is difficult to differentiate because there is considerable overlap between classical phenotypes and clinical and imaging findings among the subgroups. Here, we report a Korean girl with type 2 GM1 gangliosidosis, who showed dysostosis multiplex and progressive neurological deterioration. Developmental regression was first noted at the age of 9 months, and she was diagnosed as GM1 gangliosidosis by ${\beta}$-galactosidase enzyme analysis and GLB1 mutation analysis at the age of 16 months.

• Korean journal of aerospace and environmental medicine
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• v.31 no.1
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• pp.17-20
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• 2021

As the coronavirus disease 2019 (COVID-19) pandemic continues, doctors face many difficulties in managing patients with respiratory allergies. As research continues, much new knowledge has emerged about the link between COVID-19 infection and respiratory allergies. Studies to date have shown that there is no significant increase in the risk of COVID-19 infection in patients with respiratory allergies. However, in patients undergoing treatment for moderate to severe asthma or allergic rhinitis, more severe clinical manifestations, increased hospitalization period, and increased mortality may occur, so patients need to be managed with more care. In addition to personal efforts, social consideration should be accompanied to prevent deterioration in patients' quality of life with respiratory allergies due to COVID-19. Lastly, as clinical doctors, we should treat patients with respiratory allergies to protect ourselves appropriately by actively utilizing remote medical treatment and minimizing tests that generate droplets. Also, by appropriately educating patients and continuing drug treatment, efforts should be made to ensure that patients receive the best treatment even in a pandemic situation.

• Journal of Genetic Medicine
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• v.10 no.2
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• pp.113-116
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• 2013

Alexander disease is a rare degenerative leukodystrophy caused by dominant mutations in glial fibrillary acidic protein (GFAP). The neonatal form of Alexander disease may manifest as frequent and intractable seizures or obstructive hydrocephalus, with rapid progression leading to severe disability or death within two years. We report a case of a 50-day-old male who presented with intractable seizures and obstructive hydrocephalus. His initial magnetic resonance imaging (MRI) suggested a tumor-like lesion in the tectal area causing obstructive hydrocephalus. Despite endoscopic third ventriculostomy and multiple administrations of antiepileptic drugs, the patient experienced intractable seizures with rapid deterioration of his clinical status. After reviewing serial brain MRI scans, Alexander disease was suspected. Subsequently, we confirmed the de novo missense mutation in GFAP (c.1096T>C, Y366H). Although the onset was slightly delayed from the neonatal period (50 days old), we concluded that the overall clinical features were consistent with the neonatal form of Alexander disease. Furthermore, we also suspected that a Y366 residue might be closely linked to the neonatal form of Alexander disease based on a literature review.