BACKGROUND: Lambert-Eaton myasthenic syndrome is well known to be a classical paraneoplastic syndrome of small cell lung carcinoma (SCLC). Three cases of seronegative myasthenia gravis (MG) and SCLC were previously reported. CASE REPORT: A 65-year-old man developed a severe progressive respiratory failure with clinical features of MG. Tests showed a decremental response in the repetitive nerve stimulation test, abnormal single-fiber electromyography, and positive acetylcholine receptor antibody. SCLC was confirmed by the lung biopsy. CONCLUSIONS: This case represents the first case of seropositive MG and SCLC.
Acetylcholine ; Aged ; Electromyography ; Humans ; Lambert-Eaton Myasthenic Syndrome ; Lung ; Myasthenia Gravis ; Paraneoplastic Syndromes ; Respiratory Insufficiency ; Small Cell Lung Carcinoma

In 1983, the first successful trial of 3,4-diaminopyridine (3,4-DAP) in Lambert-Eaton myasthenic syndrome (LEMS) was reported. Efficacy of amifampridine (3,4-DAP and 3,4-diaminopyridine phosphate [3,4-DAPP]) for symptomatic treatment in LEMS was proven by seven randomized studies in 3,4-DAP and two randomized studies in 3,4-DAPP. US Food Drug Administration approved 3,4-DAPP usage for adult LEMS in 2018 and for pediatric LEMS in 2022. Nineteen pediatric LEMS cases were identified in the literature. Compared with adult LEMS, the rate of malignancy is low as expected and the rate of dysautonomia is also low in pediatric LEMS. Unexpected finding is two cases of pediatric LEMS following antecedent infection. Amifampridine can be safely used as long the daily dose is less than 80 mg a day for adult LEMS patients and less than 30 mg a day for pediatric LEMS patients. Amifampridines can be supplemented with a liberal amount of pyridostigmine for long term usage. Amifampridine was used as symptomatic treatment in eight (42%) of 19 pediatric LEMS patients: 3,4-DAP in six and 3,4-DAPP in two patients. The most common practice of 3,4-DAP was a combination with pyridostigmine in four patients. With 3,4-DAP, normal activity was reported in 3 cases and mild to moderate-improvement in other 3 cases. In two patients with 3,4-DAPP, significant improvement in one and no improvement in one. Amifampridines are proven to be effective and safe drugs for the symptomatic treatment without serious side reaction in adults as well as in children as long as the dosage is properly adhered.

Parkinson's disease (PD) is a common neurodegenerative disorder characterized by progressive degeneration of dopaminergic neurons in the substantia nigra pars compacta. Most cases are sporadic and its etiology is incompletely understood. However, increasing evidence suggests that oxidative stress and mitochondrial dysfunction may be involved in the pathogenesis of Parkinson's disease. The aim of this study was to investigate changes in mitochondrial protein profiles during dopaminergic neuronal cell death using two-dimensional gel electrophoresis in conjunction with mass spectrometry. Several protein spots were found to be significantly altered following treatment of MN9D dopaminergic neuronal cells with 6-hydroxydopamine (6-OHDA). Among several identified candidates, TNF receptor-associated protein 1 (TRAP1), a mitochondrial molecular chaperone, was released from the mitochondria into the cytosol in MN9D cells as well as primary cultures of dopaminergic neurons following 6-OHDA treatment. This event was drug-specific in that such apoptotic inducers as staurosporine and etoposide did not cause translocation of TRAP1 into the cytosol. To our knowledge, the present study is the first to demonstrate the drug-induced subcellular translocation of TRAP1 during neurodegeneration. Further studies delineating cellular mechanism associated with this phenomenon and its functional consequence may provide better understanding of dopaminergic neurodegeneration that underlies PD pathogenesis.
Cell Death ; Cytosol ; Dopaminergic Neurons ; Electrophoresis, Gel, Two-Dimensional ; Etoposide ; Mass Spectrometry ; Mitochondria* ; Mitochondrial Proteins ; Molecular Chaperones ; Necrosis* ; Neurodegenerative Diseases ; Oxidative Stress ; Oxidopamine* ; Parkinson Disease ; Proteomics ; Staurosporine ; Substantia Nigra ; TNF Receptor-Associated Factor 1

Autism spectrum disorder (ASD), with its high economic and societal costs, is a growing public health concern whose prevalence has risen steadily over the last two decades. Although actual increased incidence versus improved diagnosis remains controversial, the increased prevalence of ASD suggests non-inherited factors as likely contributors. There is increasing epidemiologic evidence that abnormal maternal thyroid function during pregnancy is associated with increased risk of child ASD and other neurodevelopmental disorders. Prenatal exposure to endocrine-disrupting chemicals such as per- and polyfluoroalkyl substances (PFAS) is known to disrupt thyroid function and can affect early brain development; thus, thyroid dysfunction is hypothesized to mediate this relationship. The concept of a potential pathway from prenatal PFAS exposure through thyroid dysfunction to ASD etiology is not new; however, the extant literature on this topic is scant. The aim of this review is to evaluate and summarize reports with regard to potential mechanisms in this pathway.

Background: and Purpose To report an improvement with immunotherapy in 34 (85%)/40 patients who required an immunotherapy among 56 patients with sensory chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Methods: Sensory CIDP was diagnosed when two inclusion criteria are met: 1) acquired, chronic progressive or relapsing symmetrical or asymmetrical sensory polyneuropathy that had progressed for >2 months; and 2) definite electrophysiological and/or biopsy evidence of demyelinating neuropathy. Results: Fifty-six patients with sensory CIDP were identified. Evidence of demyelination was obtained from by the routine motor nerve conduction study (NCS) in 39 (70%) patients, from a nerve biopsy in 10, and from a near-nerve needle sensory NCS in 7 patients. The most prominent laboratory abnormality was a high protein level in the cerebrospinal fluid in 21 (49%) of 43 tested patients. Immunotherapy was required in 41 (79%) of the 52 followed-up patients. An improvement with immunotherapy was observed in 36 (88%)/41 patients. In three patients, motor weakness developed in 5–8 years’ follow-up period and so, their diagnosis was changed to CIDP. Conclusions Sensory CIDP is responded to an immunotherapy in 88% of the treated patients.Sensory CIDP was diagnosed by the routine motor NCS in 70% of patients and by a sural nerve biopsy in 18% of patients. Thus, sensory CIDP should be recognized as a treatable CIDP variant among the different types of “idiopathic sensory neuropathy.”

OBJECTIVE: This study was performed to compare VEGF protein expression in placentae and serum from women with preeclampsia and normal pregnancy. METHODS: We have performed western blot analysis for VEGF using placental tissue homogenates. We also measured the serum VEGF concentration in both groups with competitive enzyme immunoassay (CEIA). RESULTS: Two distinct bands were obtained on Western blots. The molecular weight of the weak bands appears to correspond to that of the human recombinant VEGF 165 homodimers (42 kDa) under non-reducing conditions and the other strong bands represent alternative post-translational modification of the VEGF 165. The relative intensities of the two bands demonstrated no significant difference in placentae from preeclampsia and normal pregnancy group (p=0.130, p=0.154, respectively). On the contrary, the serum VEGF levels were significantly higher in the preeclampsia group (median 18.2 ng/ml, range 4.6-101.6 ng/ml) than the control group (median 4.9ng/ml, range 2.3-9.1 ng/ml, p<0.005). CONCLUSION: This study suggests that placenta may not be not the origin of the increased circulating VEGF in preeclampsia and there may be other potential site of VEGF synthesis in preeclampsia.
Blotting, Western ; Female ; Humans ; Immunoenzyme Techniques ; Molecular Weight ; Placenta ; Pre-Eclampsia* ; Pregnancy ; Protein Processing, Post-Translational ; Vascular Endothelial Growth Factor A*

Sarcotragin C (1), a new sesterterpene metabolite was isolated from a Sarcotragus sp. sponge collected from Chuja Island, Korea. On the basis of the combined spectroscopic analyses, the structure of this compound was determined to be a linear norsesterterpene containing a leucine-derived gamma-lactam moiety. This compound exhibited moderate cytotoxicity against K562 and A549 cell-lines.
Korea ; Porifera*

BACKGROUND: Although nutritional problems associated with dialysis are well described, nutritional problems after renal transplantation have received little attention. Nutrition interventions play an important role in prevention and management of common health problems associated with renal transplantation such as obesity, hypertension, diabetes, and cardiovascular disease. METHODS: Sixty-four kidney transplant recipients who received post-transplant management at our hospital replied to the questionnaire. The questionnaire included 102 questions on the amount and types of Korean foods that they consumed last week. Nutritional elements of diet in renal transplant patients who consume Korean food were analyzed on the basis of the survey. RESULTS: The mean energy and protein of daily intake were 2,088+/-1,016 kcal and 75.5+/-38.2 g. Patients' diets were generally sufficient, but characterized by deficiencies in vitamin B2, vitamin D, niacin, calcium, and magnesium intake. CONCLUSIONS: Dietary advice is required with regard to intake of some nutritional elements for kidney transplant recipients who consume Korean foods. Their main nutritional problem is obesity after transplantation. Attention should be paid to prevention of nutritional imbalance.
Calcium ; Cardiovascular Diseases ; Dialysis ; Diet ; Humans ; Hypertension ; Kidney Transplantation ; Kidney* ; Magnesium ; Niacin ; Obesity ; Surveys and Questionnaires ; Riboflavin ; Transplantation ; Vitamin D

Purpose: Long-term oncologic differences in outcome between groups of patients with Lynch syndrome (LS) colorectal cancer (CRC) and sporadic CRC with microsatellite instability-high (MSI-H) are the focus of investigation in the current study. Methods: Patients registered in the Korean Hereditary Tumor Registry and 2 tertiary referral hospitals treated for stage I– III CRC between 2005 and 2015 were retrospectively analyzed. Detection for both groups was performed using pedigree, microsatellite instability, and mismatch repair (MMR) gene testing. Multivariate analyses for overall survival (OS) and disease-free survival (DFS) were conducted. Results: Cases of LS (n = 77) and sporadic CRC with MSI-H (n = 96) were identified. LS CRC patients were younger in age and displayed tumor sidedness, typically involving left-sided colon and rectum, compared to patients with sporadic CRC with MSI-H. OS and DFS were lower for LS CRC relative to CRC with MSI-H (OS, 72.7% vs. 93.8%, P = 0.001; DFS, 71.4% vs. 88.5%, P = 0.001). In multivariate analyses, tumor sidedness, stage, and chemotherapy were independent factors for OS and DFS. LS CRC was a prognostic factor for poorer OS (hazard ratio, 2.740; 95% confidence interval, 1.003–7.487; P = 0.049), but not DFS. Conclusion Our findings indicate that LS CRC is associated with poorer outcomes compared to sporadic CRC with MSI-H, presenting distinct clinical features. In view of the current lack of knowledge on genetic and molecular mechanisms, appropriate management taking into consideration the difficulty of identification of CRC with hypermutable tumors harboring heterogeneity is essential.

Purpose: Long-term oncologic differences in outcome between groups of patients with Lynch syndrome (LS) colorectal cancer (CRC) and sporadic CRC with microsatellite instability-high (MSI-H) are the focus of investigation in the current study. Methods: Patients registered in the Korean Hereditary Tumor Registry and 2 tertiary referral hospitals treated for stage I– III CRC between 2005 and 2015 were retrospectively analyzed. Detection for both groups was performed using pedigree, microsatellite instability, and mismatch repair (MMR) gene testing. Multivariate analyses for overall survival (OS) and disease-free survival (DFS) were conducted. Results: Cases of LS (n = 77) and sporadic CRC with MSI-H (n = 96) were identified. LS CRC patients were younger in age and displayed tumor sidedness, typically involving left-sided colon and rectum, compared to patients with sporadic CRC with MSI-H. OS and DFS were lower for LS CRC relative to CRC with MSI-H (OS, 72.7% vs. 93.8%, P = 0.001; DFS, 71.4% vs. 88.5%, P = 0.001). In multivariate analyses, tumor sidedness, stage, and chemotherapy were independent factors for OS and DFS. LS CRC was a prognostic factor for poorer OS (hazard ratio, 2.740; 95% confidence interval, 1.003–7.487; P = 0.049), but not DFS. Conclusion Our findings indicate that LS CRC is associated with poorer outcomes compared to sporadic CRC with MSI-H, presenting distinct clinical features. In view of the current lack of knowledge on genetic and molecular mechanisms, appropriate management taking into consideration the difficulty of identification of CRC with hypermutable tumors harboring heterogeneity is essential.