• Title/Summary/Keyword: dystrophy

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Effects of photobiomodulation on different application points and different phases of complex regional pain syndrome type I in the experimental model

  • Canever, Jaquelini Betta;Barbosa, Rafael Inacio;Hendler, Ketlyn Germann;Neves, Lais Mara Siqueira das;Kuriki, Heloyse Uliam;Aguiar, Aderbal Silva Junior;Fonseca, Marisa de Cassia Registro;Marcolino, Alexandre Marcio
    • The Korean Journal of Pain
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    • v.34 no.3
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    • pp.250-261
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    • 2021
  • Background: Complex regional pain syndrome type I (CRPS-I) consists of disorders caused by spontaneous pain or induced by some stimulus. The objective was to verify the effects of photobiomodulation (PBM) using 830 nm wavelength light at the affected paw and involved spinal cord segments during the warm or acute phase. Methods: Fifty-six mice were randomized into seven groups. Group (G) 1 was the placebo group; G2 and G3 were treated with PBM on the paw in the warm and acute phase, respectively; G4 and G5 treated with PBM on involved spinal cord segments in the warm and acute phase, respectively; G6 and G7 treated with PBM on paw and involved spinal cord segments in the warm and acute phase, respectively. Edema degree, thermal and mechanical hyperalgesia, skin temperature, and functional quality of gait (Sciatic Static Index [SSI] and Sciatic Functional Index [SFI]) were evaluated. Results: Edema was lower in G3 and G7, and these were the only groups to return to baseline values at the end of treatment. For thermal hyperalgesia only G3 and G5 returned to baseline values. Regarding mechanical hyperalgesia, the groups did not show significant differences. Thermography showed increased temperature in all groups on the seventh day. In SSI and SFI assessment, G3 and G7 showed lower values when compared to G1, respectively. Conclusions: PBM irradiation in the acute phase and in the affected paw showed better results in reducing edema, thermal and mechanical hyperalgesia, and in improving gait quality, demonstrating efficacy in treatment of CRPS-I symptoms.

Unexpected Aggravation of COVID-19 After Recovery in Three Adolescents With Chronic Neurologic Conditions: A Case Series

  • Dayun Kang;Seung Ha Song;Bin Ahn;Bongjin Lee;Ki Wook Yun
    • Pediatric Infection and Vaccine
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    • v.29 no.3
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    • pp.147-154
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    • 2022
  • The clinical severity of coronavirus disease 2019 (COVID-19) in children is usually mild. Most of the affected patients completely recovered from COVID-19 before being released from approximately 7-day quarantine. However, children with comorbidities are at risk of more severe disease and adverse outcomes. We report three cases of COVID-19-affected adolescents with underlying chronic respiratory difficulty due to neurologic diseases who showed sudden clinical aggravations at the time of discharge, even after full clinical improvement. Patient 1 is a 17-year-old boy with Ullrich congenital muscular dystrophy who had cardiopulmonary arrest 9 days after the initial COVID-19 symptoms. Patient 2 is a 17-year-old girl with intracerebral hemorrhage with infarction in bed-ridden status who had cardiopulmonary arrest 11 days after the initial symptoms. Patient 3 is a 12-year-old boy with intraventricular hemorrhage with hydrocephalus in bed-ridden status who showed multiorgan failure 10 days after the initial symptoms. Remdesivir, dexamethasone, and empirical antibiotics were administered with mechanical ventilation and intensive unit care. Among the three patients, two (patients 1 and 3) were alive, and one (patient 2) expired. Clinicians caring for adolescents with chronic neurologic and/or pulmonary disease should keep in mind that these patients could have sudden deterioration after recovery from the acute phase of COVID-19 around or after the time of discharge.

Outcome of Preimplantation Genetic Diagnosis for Chromosome Aneuploidy and Genetic Disease (유전질환 및 염색체 이상의 예방을 위한 착상전 유전진단의 결과)

  • Kim, Jin-Yeong;Lim, Chun-Kyu;Song, In-Ok;Yoo, Keun-Jai;Yang, Kwang-Moon;Han, Kuk-Sun;Hur, Kuol;Song, Ji-Hong;Jun, Jin-Hyun;Min, Dong-Mi;Park, So-Yeon;Jun, Jong-Young;Koong, Mi-Kyoung;Kang, Inn-Soo
    • Clinical and Experimental Reproductive Medicine
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    • v.29 no.4
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    • pp.269-278
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    • 2002
  • Objective s: Chromosome aneuploidy is associated with recurrent abortion and congenital anomaly and genetic diseases occur repeatedly in the specific families. Preimplantation genetic diagnosis (PGD) can prevent aneuploidy or genetic disease by selecting normal embryos before implantation and is an alternative to prenatal diagnosis. The aim of this study is to assess the outcome of PGD cycles by using FISH or PCR, and to determine the clinical usefulness and values in patients with risk of chromosomal aneuploidy or genetic disease. Materials and Methods: From 1995 to Apr. 2001, a total of 108 PGD cycles in 65 patients with poor reproductive outcome were analyzed. The indications of PGD were translocation (n=49), inversion (n=2), aneuploidy screening (n=7), Duchenne muscular dystrophy (n=5) and spinal muscular atrophy (n=2). PGD was applied due to the history of recurrent abortion, previous birth of affected child or risk of aneuploidy related to sex chromosome aneuploidy or old age. Blastomere biopsy was performed in 6$\sim$10 cell stage embryo after IVF with ICSI. In the single blastomere, chromosome aneuploidy was diagnosed by using FISH and PCR was performed for the diagnosis of exon deletion in DMD or SMA. Results: The FISH or PCR amplification was successful in 94.3% of biopsied blastomeres. The rate of transferable balanced emb ryos was 24.0% in the chromosome translocation and inversion, 57.1% for the DMD and SMA, and 28.8% for the aneuploidy screening. Overall hCG positive rate per transfer was 17.8% (18/101) and clinical pregnancy rate was 13.9% (14/101) (11 term pregnancy, 3 abortion, and 4 biochemical pregnancy). The clinical pregnancy rate of translocation and inversion was 12.9% (11/85) and abortion rate was 27.3% (3/11). In the DMD and SMA, the clinical pregnancy rate was 33.3% (3/9) and all delivered at term. The PGD results were confirmed by amniocentesis and were correct. When the embryos developed to compaction or morula, the pregnancy rate was higher (32%) than that of the cases without compaction (7.2%, p<0.01). Conclusions: PGD by using FISH or PCR is useful to get n ormal pregnancy by reducing spontaneous abortion associated with chromosome aneuploidy in the patients with structural chromosome aberration or risk of aneuploidy and can prevent genetic disease prior to implantation.

Noninvasive Prenatal Diagnosis using Cell-Free Fetal DNA in Maternal Plasma: Clinical Applications

  • Yang, Young-Ho;Han, Sung-Hee;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • v.8 no.1
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    • pp.1-16
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    • 2011
  • Owing to the risk of fetal loss associated with prenatal diagnostic procedures (amniocentesis, chorionic villus sampling), noninvasive prenatal diagnosis (NIPD) is ultimate goal of prenatal diagnosis. The discovery of circulating cell-free fetal DNA (cffDNA) in maternal plasma in 1997 has opened up new probabilities for NIPD by Dr. Lo et al. The last decade has seen great development in NIPD. Fetal sex and fetal RhD status determination by cffDNA analysis is already in clinical use in certain countries. For routine use, this test is limited by the amount of cell-free maternal DNA in blood sample, the lack of universal fetal markers, and appropriate reference materials. To improve the accuracy of detection of fetal specific sequences in maternal plasma, internal positive controls to confirm to presence of fetal DNA should be analyzed. We have developed strategies for noninvasive determination of fetal gender, and fetal RhD genotyping using cffDNA in maternal plasma, using real-time quantitative polymerase chain reaction (RT-PCR) including RASSF1A epigenetic fetal DNA marker (gender-independent) as internal positive controls, which is to be first successful study of this kind in Korea. In our study, accurate detection of fetal gender through gestational age, and fetal RhD genotyping in RhD-negative pregnant women was achieved. In this assay, we show that the assay is sensitive, easy, fast, and reliable. These developments improve the reliability of the applications of circulating fetal DNA when used in clinical practice to manage sex-linked disorders (e.g., hemophilia, Duchenne muscular dystrophy), congenital adrenal hyperplasia (CAH), RhD incompatibility, and the other noninvasive pregnant diagnostic tests on the coming soon. The study was the first successful case in Korea using cffDNA in maternal plasma, which has created a new avenue for clinical applications of NIPD.