• Clinical and Experimental Reproductive Medicine
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• v.46 no.4
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• pp.206-210
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• 2019

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.13
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• pp.5331-5336
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• 2014

Background: Early onset breast cancer is associated with poor outcomes but variable results have been reported. It is a significant problem in Pakistani women but remains under reported. Breast conservation plays an important role in surgical management of this younger patient group. The objective of this study was to determine the outcome of breast conservative therapy in patients with early onset breast cancer in our population and compare it with their older counterparts. Materials and Methods: A review of patients with invasive breast cancer who underwent breast conservation surgery at Shaukat Khanum Cancer Hospital from 1997 to 2009 was performed. Patients were divided into two groups i.e. Group I age ${\leq}40$ and Group II >40 years. A total of 401 patients with breast cancer were identified in Group I and 405 patients in Group II. Demographics, histopathological findings and receptor status of the two groups were compared. The Chi square test was used for categorical variables. Outcome was assessed on basis of 10 year locoregional recurrence free survival (LRRFS), disease free survival (DFS) and overall survival (OS). For survival analysis Kaplan Meier curves were used and significance was determined using the Log rank test. Cox regression was applied for multivariate analysis. Results: Median follow up was 4.31 (0.1-15.5) years. Median age at presentation was 34.6 years (17-40) and 51.9 years (41-82) for the two groups. Groups were significantly different from each other with respect to grade, receptor status, tumor stage and use of neoadjuvant therapy. No significant difference was present between the two groups for estimated 10 year LRRFS (86% vs 95%) (p=0.1), DFS (70% vs 70%) (p=0.5) and OS (75% vs 63%) (p=0.1). On multivariate analysis, tumor stage was an independent predictor of LRRFS, DFS and OS. Conclusions: Early onset breast cancer is associated with a distinct biology but does not lead to poorer outcomes in our population.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.1-8
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• 2005

Glutaric acidemia (GA) type II is a very rare inherited disorder that have no accruate figure on its icidende. People with Glutaric acidemia type II have an enzyme that does not work properly. Two specific enzymes are associated with Glutaric acidemia type II:1. Electron transfer flavoprotein (ETF), 2. ETF-ubiquinone oxidoreductase (ETF-QO). Both of these enzymes have similar functions in the body, and children with Glutaric acidemia type II may lack one or the other of these enzymes. They play an important role in breaking down fats and proteins, and help the body to produce energy. GA II clinically manifested as (1) neonatal onset with congenital anomalies (2) neonatal onset without anomalies, and (3) mild and/or later onset. The first two groups are sometimes said to have multiple acyl CoA dehydrogenation deficiency-severe and the third to have multiple acyl CoA dehydrogenation deficiency-mild. The course and age at presentation of later-onset glutaric acidemia type II is extremely variable, therefore it is difficult to diagnosis. We experienced one case of late onset form glutaric acidemia type II with afebrile status epilepticus-like convulsion.

• The Academic Congress of Korean Shoulder and Elbow Society
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• 2008.03a
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• pp.175-175
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• 2008

We report a rare case of late-onset brachial artery occlusion caused by subclavian artery stenosis with excessive scar tissue after open reduction and plate fixation for clavicular fracture. When he referred to us, the right hand were pale and the radial and ulnar pulses at the wrist were absent. CT-angiogram showed compression of subclavian artery by excessive scar tissue beneath the fracture site and angiography revealed stenosis of subclavian artery with thrombus and complete obstruction of blood flow in the brachial artery with emboli. Therefore, we performed embolectomy. 2 years after operation, patient was essentially asymptomatic except mild pain after long standing elevation of arm. We recommend that minimal soft tissue dissection should be needed in the operative treatment of clavicular fracture, especially soft tissue beneath the clavicle should be protected maximally.

• Perspectives in Nursing Science
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• v.13 no.1
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• pp.17-28
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• 2016

Purpose: This study aimed to identify patterns of diagnosis and to explore risk factors for type 2 diabetes beyond the postpartum period in women with a previous history of gestational diabetes, and to identify differences in such risk factors between early and late-onset (aged <45 and ${\geq}45$). Methods: Using epidemiological data from the Korean Genome and Epidemiology Study, a retrospective analysis of 175 women with various timings of type 2 diabetes diagnosis was performed. Results: The average age ($42.6{\pm}10.6$) at type 2 diabetes diagnosis was earlier than the general population, and obesity was prevalent with marked weight gains around 35 years old. Longer duration of breastfeeding was observed in women with late-onset of type 2 diabetes. Conclusion: For prevention of type 2 diabetes, early intervention is required, and modifiable factors such as weight control and breastfeeding should be taken into consideration for intervention strategies.

• Clinical Pain
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• v.18 no.2
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• pp.130-132
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• 2019

Acupuncture is generally regarded as a safe procedure and as a popular treatment for patients with musculoskeletal disorders. We report a case of a 47-year-old male patient with late-onset tetraplegia, developed after acupuncture. He had no trauma, medical, and social history relevant to tetraplegia. Right after the acupuncture, he felt discomfort in his right arm. After 6 days, all 4 extremity weakness developed. Whole-spine magnetic resonance imaging revealed the presence of spinal subdural hematoma extending from the C5 vertebra to the coccyx level. Hand coordination dysfunction, neurogenic bladder, and neuropathic pain were other symptoms. After the management, he recovered muscle strength, but incomplete bladder control and neuralgia were sustained. It is important to be aware of the possibilities of severe complications after acupuncture.

• Annals of Clinical Neurophysiology
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• v.25 no.2
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• pp.106-109
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• 2023

Inclusion body myositis (IBM) is a late-onset myopathy that manifests as distinct muscle weakness in the quadriceps, finger flexors, and ankle dorsiflexors. T-cell large granular lymphocyte (T-LGL) leukemia is a late-onset clonal disorder of CD8+ cytotoxic T-cells that is often accompanied by autoimmune diseases. To date, the association between IBM and T-LGL leukemia has been infrequently reported. Here, we report a case of a patient with T-LGL leukemia who developed IBM, along with in-depth laboratory, electrophysiological, and pathologic findings.

• Korean Journal of Animal Reproduction
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• v.13 no.3
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• pp.127-133
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• 1989

This study was undertaken to understand development stage of ovary and changes of hormones concentration from February to May in the Israeli carp, Cyprinus carpio. The results obtained in these experiments are as follows ; 1. Serum LH levels began to increase sharphy in March, coinciding with the onset of rapid ovarian development. 2. LH levels were well correlated with changes in gonadosomatic index. 3. Dramatic increase in gonadosomatic index occurred during the months of March. 4. Ripe stage(Stage Ⅴ) rapidly increase in March. 5. Early perinucleolus oocyte radpily develop into late perinucleolus oocytes in March. 6. The vitellogenic phase begins as these late perinucleolus oocytes become transformed into early maturing oocytes through the accumulation of yolk. 7. The cytoplasm completely fills with yolk as oocytes reach the late maturing stage. 8. Changes in the microscopic appearances of the ovaries were well correlated with changes in both gonadosomatic index and macroscopic appearance. 9. It is concluded from these observations that LH plays a major role in sexual maturation of the Israeli carp.

• Clinical and Experimental Pediatrics
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• v.62 no.6
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• pp.224-234
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• 2019

Purpose: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center. Methods: The medical records of 5 Korean patients (2 male, 3 female patients) diagnosed with PD between 2002 and 2013 at Samsung Medical Center in Seoul, Republic of Korea were retrospectively reviewed for data, including clinical and genetic characteristics at diagnosis and clinical course after ERT. Results: Common initial symptoms included hypotonia, cyanosis, and tachycardia in patients with IOPD and limb girdle weakness in patients with LOPD. Electrocardiography at diagnosis revealed hypertrophic cardiomyopathy in all patients with IOPD who showed a stable disease course during a median follow-up period of 10 years. Patients with LOPD showed improved hepatomegaly and liver transaminase level after ERT. Conclusion: As ERT is effective for treatment of PD, early identification of this disease is very important. Thus, patients with IOPD should be considered candidates for clinical trials of new drugs in the future.

• Journal of Genetic Medicine
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• v.21 no.1
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• pp.31-35
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• 2024

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.