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1.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-1002681

RESUMO

Coronavirus disease 2019 (COVID-19) is associated with a variety of neurologic manifestations. Acute necrotizing encephalopathy (ANE) is a rare, life-threatening complication characterized by rapid deterioration of neurologic status following viral infection, such as influenza or human herpesvirus 6. Since the COVID-19 pandemic, a rise in ANE cases associated with the infectious disease has been reported in adult patients. We present a case of COVID-19-associated ANE in a 9-year-old boy. The patient experienced 3 days of fever and mild respiratory symptoms, followed by lethargy. Magnetic resonance imaging on day 4 showed hyperintensity in the bilateral thalami, midbrain, pons, hypothalamus, and cerebellum, along with some areas of hemorrhage. From the imaging findings, ANE was strongly suspected, leading to the initiation treatment involving a 5-day course of remdesivir and multiple immunomodulator therapies, including high-dose corticosteroids, intravenous immunoglobulin, tocilizumab, and 10 cycles of therapeutic plasma exchange. Subsequently, the patient gradually improved, experiencing only minor neurological sequelae and showing favorable radiologic improvement. In COVID-19-infected patients presenting neurologic symptoms, it is crucial to promptly suspect and investigate unexplained encephalopathy using neuroimaging. Early administration of immunomodulator therapy is vital for the diagnosis and optimizing clinical outcomes.

2.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-966560

RESUMO

As the resolution and accuracy of diagnostic techniques for preimplantation genetic testing for aneuploidy (PGT-A) are improving, more mosaic embryos are being identified. Several studies have provided evidence that mosaic embryos have reproductive potential for implantation and healthy live birth. Notably, mosaic embryos with less than 50% aneuploidy have yielded a live birth rate similar to euploid embryos. This concept has led to a major shift in current PGT-A practice, but further evidence and theoretically relevant data are required. Proper guidelines for selecting mosaic embryos suitable for transfer will reduce the number of discarded embryos and increase the chances of successful embryo transfer. We present an updated review of clinical outcomes and practice recommendations for the transfer of mosaic embryos using PGT-A.

3.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-937950

RESUMO

Purpose@#Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot–Marie–Tooth Disease (CMT) is a genetic disorder characterized by progressive extremity muscle degeneration and loss of sensory function. For the first time in Korea, we report our experience of applying single nucleotide polymorphism genotyping and karyomapping for PGT-M of CMT disease. @*Materials and Methods@#Prior to clinical PGT-M, preclinical tests were performed using genotypes of affected families to identify informative single-nucleotide polymorphisms associated with mutant alleles. We performed five cycles of in vitro fertilization PGT-M in four couples with CMT1A, CMT2A, and CMT2S in CHA Fertility Center, Seoul Station. @*Results@#From July 2020 through August 2021, five cycles of PGT-M with karyomapping in four cases with CMT1 and CMT2 were analyzed retrospectively. A total of 17 blastocysts were biopsied and 15 embryos were successfully diagnosed (88.2%).Ten out of 15 embryos were diagnosed as unaffected (66.7%). Five cycles of PGT-M resulted in four transfer cycles, in which four embryos were transferred. Three clinical pregnancies were achieved (75%) and the prenatal diagnosis by amniocentesis for all three women confirmed PGT-M of karyomapping. One woman delivered a healthy baby uneventfully and two pregnancies are currently ongoing. @*Conclusion@#This is the first report in Korea on the application of karyomapping in PGT-M for CMT patients. This study shows that karyomapping is an efficient, reliable and accurate diagnostic method for PGT-M in various types of CMT diseases.

4.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-937949

RESUMO

Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient’s karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

5.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-874687

RESUMO

Background@#and Purpose Dietary therapy (DT), including the ketogenic diet (KD), is one of the nonpharmacological treatment options for patient with drug-resistant epilepsy. However, maintaining DT in patients without seizure reduction is very difficult, so it is critical for clinicians to decide when to stop this intervention. @*Methods@#We retrospectively analyzed early clinical and laboratory findings and the clinical characteristics of children who received DT. The maintenance of DT and the clinical seizure frequency were assessed at 1, 3, 6, 12, and 24 months after KD initiation. Responders were defined as patients showing an overall reduction in seizure frequency of >50% relative to the baseline. @*Results@#We included 67 patients who received DT, but only 23 (34.3%) of these patients remained on DT at 6 months. Only 1 (5%) of the 20 responders at 1 month became a nonresponder at 6 months. The response rate at 6 months was significantly higher among patients under 2 years of age (15/17, 88.2%) than older patients (2/6, 33.3%; p=0.021). Moreover, the 6-month responders were significantly younger (29.4±38.6 months, mean±SD) than the nonresponders (98.9±84.6 months, p=0.012) at the initiation of the diet. A high blood β-hydroxybutyrate (BHB) level at 1 month predicted a good DT response at 6 months. @*Conclusions@#Most 1-month responders maintained their response on DT for up to 6 months.The blood BHB level at 1 month was significantly correlated with the 6-month seizure outcome.Confirming clinical and laboratory biomarkers for the efficacy of DT requires further studies with larger cohorts.

6.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wpr-25850

RESUMO

PURPOSE: This study is aimed to evaluate the effectiveness and tolerability of rufinamide as add-on therapy in patients with intractable epilepsies. METHODS: We retrospectively reviewed the medical records of 70 patients treated with rufinamide in Asan Medical Center, children's hospital. Two cases with incomplete medical records were excluded and total sixty-eight cases were enrolled. Rufinamide was added on the existing antiepileptic drugs and the total seizure frequency at pre-medication, 3 months and 12 months were examined. RESULTS: The mean age of 68 patients (43 male) was 10.5 yrs (range, 1-24 yrs). At 3 months after rufinamide initiation, 5 patients achieved freedom from seizures and 28 (41.2%) achieved a ≥50% seizure reduction. At 12 months, 7 patients achieved seizure freedom and 29 (42.6%) achieved ≥50% seizure reduction. The retention rate was hold up to 75.0% at 3 months and 66.2% at 12 months of study. Total 29 patients reported adverse events in order of seizure aggravation, somnolence, insomnia, common cold, nausea and vomiting. CONCLUSION: In this study, rufinamide is effective and tolerable in patients with other intractable epilepsy of childhood onset as well as the patients with LGS. Further research is required to define the efficacy of rufinamide in intractable epilepsy other than LGS.


Assuntos
Humanos , Anticonvulsivantes , Resfriado Comum , Epilepsia Resistente a Medicamentos , Encefalite Viral , Liberdade , Prontuários Médicos , Náusea , Estudos Retrospectivos , Convulsões , Distúrbios do Início e da Manutenção do Sono , Vômito
7.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-56119

RESUMO

We aimed to analyze characteristics of encephalopathy after both hematopoietic stem cell and solid organ pediatric transplantation. We retrospectively reviewed medical records of 662 pediatric transplant recipients (201 with liver transplantation [LT], 55 with heart transplantation [HT], and 67 with kidney transplantation [KT], 339 with allogeneic hematopoietic stem cell transplantation [HSCT]) who received their graft organs at Asan Medical Center between January 2000 and July 2014. Of the 662 patients, 50 (7.6%) experienced encephalopathy after transplantation. The incidence of encephalopathy was significantly different according to the type of organ transplant: LT, 16/201 (8.0%), HT, 13/55 (23.6%), KT, 5/67 (7.5%), and HSCT, 16/339 (4.7%) (P < 0.001). Drug-induced encephalopathy (n = 14) was the most common encephalopathy for all transplant types, but particularly after HSCT. Hypertensive encephalopathy was the most common after KT and HT, whereas metabolic encephalopathy was the most common after LT. The median time to encephalopathy onset also differed according to the transplant type: 5 days after KT (range 0–491 days), 10 days after HT (1–296 days), 49.5 days after HSCT (9–1,405 days), and 39 days after LT (1–1,092 days) (P = 0.018). The mortality rate among patients with encephalopathy was 42.0% (n = 21/50). Only 5 patients died of neurologic complications. Transplant-associated encephalopathy presented different characteristics according to the type of transplant. Specialized diagnostic approach for neurologic complications specific to the type of transplant may improve survival and quality of life in children after transplantation.


Assuntos
Criança , Humanos , Encefalopatias , Encefalopatias Metabólicas , Coração , Transplante de Coração , Transplante de Células-Tronco Hematopoéticas , Células-Tronco Hematopoéticas , Encefalopatia Hipertensiva , Incidência , Rim , Transplante de Rim , Fígado , Transplante de Fígado , Prontuários Médicos , Mortalidade , Qualidade de Vida , Estudos Retrospectivos , Transplantados , Transplante , Transplantes
8.
Korean Journal of Pediatrics ; : S152-S156, 2016.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-118686

RESUMO

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics.


Assuntos
Criança , Feminino , Humanos , Lactente , Capilares , Diagnóstico , Extremidades , Hipertrofia , Coreia (Geográfico) , Megalencefalia , Neurologia , Polimicrogiria , Sindactilia
9.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-39559

RESUMO

OBJECTIVE: To compare the clinical outcomes following conservative treatment and arthroscopic repair in patients with a rotator cuff tear. METHODS: In this retrospective study, patients aged >50 years with a symptomatic rotator cuff tear were reviewed. The rotator cuff tendons were evaluated using ultrasonography, shoulder magnetic resonance imaging or MR arthrography, and the patients with either a high-grade partial-thickness or small-to-medium-sized (≤3 cm) full-thickness tear were included in this study. The primary outcome measures were a pain assessment score and range of motion (ROM) at 1-year follow-up. The secondary outcomes were the rate of tear progression or retear along with the rate of symptom aggravation after the treatments. RESULTS: A total of 357 patients were enrolled, including 183 patients that received conservative treatment and 174 patients who received an arthroscopic repair. The pain assessment score (p50 years old with a less than medium-sized rotator cuff tear in a 1-year follow-up period. Further study is warranted to find the optimal combination of conservative treatment for a symptomatic rotator cuff tear.


Assuntos
Humanos , Artrografia , Artroscopia , Seguimentos , Imageamento por Ressonância Magnética , Estudo Observacional , Avaliação de Resultados em Cuidados de Saúde , Medição da Dor , Amplitude de Movimento Articular , Estudos Retrospectivos , Manguito Rotador , Ombro , Lágrimas , Traumatismos dos Tendões , Tendões , Resultado do Tratamento , Ultrassonografia
10.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wpr-114593

RESUMO

Primary renal artery aneurysm has been estimated to account for an incidence of 0.015-1% with associated morbidities including renovascular hypertension and rupture. Renovascular hypertension associated renal artery aneurysms in children is not a common disease. In patients with complicated renal vascular disease, renal autotransplantation has been used as an alternative to percutaneous transluminal angioplasty, which may be hazardous in these situations. We report a case of a renal artery aneurysm in a 13-year-old Korean child presenting hypertension detected during school health examination. Preoperative workup demonstrated a 2.8x2.1x1.9 cm saccular aneurysm in the right renal hilum that was not amendable to endovascular repair. A surgical strategy including extracorporeal renal artery reconstruction with autotransplantation was applied in order to restore renal artery anatomy and to treat renovascular hypertension. Immediately he complained of severe right flank pain and postoperative doppler sonography revealed lack of perfusion. On the 5th day after autotransplantation, the patient underwent a transplant nephrectomy. He was well postoperatively and was found to have a normal kidney function and stable blood pressure control without antihypertensive medication. This is the first pediatric case of renal artery aneurysm in Korea who underwent extracorporeal repair followed by autotransplantation failure. More pediatric cases with renal artery aneurysm should be reported to identify therapeutic outcome and long term prognosis.


Assuntos
Adolescente , Criança , Humanos , Aneurisma , Angioplastia , Autoenxertos , Pressão Sanguínea , Dor no Flanco , Hipertensão , Hipertensão Renovascular , Incidência , Rim , Coreia (Geográfico) , Nefrectomia , Perfusão , Prognóstico , Artéria Renal , Ruptura , Serviços de Saúde Escolar , Doenças Vasculares
11.
Yonsei Medical Journal ; : 132-140, 2014.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-86930

RESUMO

PURPOSE: The present study aimed to investigate the impact of high-sensitivity C-reactive protein (hs-CRP) and renal dysfunction on clinical outcomes in acute myocardial infarction (AMI) patients. MATERIALS AND METHODS: The study involved a retrospective cohort of 8332 patients admitted with AMI. The participants were divided into 4 groups according to the levels of estimated glomerular filtration rate (eGFR) and hs-CRP: group I, no renal dysfunction (eGFR > or =60 mL.min(-1).1.73 m(-2)) with low hs-CRP (< or =2.0 mg/dL); group II, no renal dysfunction with high hs-CRP; group III, renal dysfunction with low hs-CRP; and group IV, renal dysfunction with high hs-CRP. We compared major adverse cardiac events (MACE) over a 1-year follow-up period. RESULTS: The 4 groups demonstrated a graded association with increased MACE rates (group I, 8.8%; group II, 13.8%; group III, 18.6%; group IV, 30.1%; p<0.001). In a Cox proportional hazards model, mortality at 12 months increased in groups II, III, and IV compared with group I [hazard ratio (HR) 2.038, 95% confidence interval (CI) 1.450-2.863, p<0.001; HR 3.003, 95% CI 2.269-3.974, p<0.001; HR 5.087, 95% CI 3.755-6.891, p<0.001]. CONCLUSION: High hs-CRP, especially in association with renal dysfunction, is related to the occurrence of composite MACE, and indicates poor prognosis in AMI patients.


Assuntos
Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteína C-Reativa/metabolismo , Angiografia Coronária , Rim/fisiopatologia , Infarto do Miocárdio/metabolismo , Estudos Retrospectivos
12.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wpr-199733

RESUMO

PURPOSE: The differential diagnosis between seizure and syncope in a child who visits pediatric neurology clinic with the history of loss of consciousness (LOC), is always challenging issues to the pediatricians. We tried to identify the clinical and laboratory differences between epilepsy and syncope and evaluate the usefulness of EEG and head-up tilt test. METHODS: We retrospectively reviewed the medical records of children who visited pediatric neurology clinic in Asan Medical Center with history of LOC from 2007 to 2011. Patients were divided into three groups, as syncope, epilepsy and syncope with epilepsy, by the diagnosis at the last follow-up. The initial clinical presentations and laboratory findings of each group were evaluated. RESULTS: A total of 145 children were reviewed, but 84 children out of them were included (45 boys, mean age; 13.2 years). Seventy of 84 children (83%) were diagnosed as syncope, 8 (10%) syncope with epilepsy, 6 (7%) epilepsy. Among the syncope groups, neurocardiogenic syncope was the most common, 67(95.7%). The ictal phenomenon such as aura, eyeball deviation, cyanosis and urination were significantly higher in epilepsy patients (P<0.001). The abnormal EEG findings were more likely to be in the epilepsy group, but the sensitivity and specificity was 57%, 90%, respectively. The sensitivity and specificity of head-up tilt tests for syncope were 79% and 100%. Recurrence during follow-up periods were more frequent in epilepsy group (1.2+/-3.8 vs 10+/-10.3, P<0.001). CONCLUSION: Appropriate assessment from history and laboratory data may lead to the proper diagnosis and management in children with LOC, and the careful follow-up and reevaluations are essential to prevent recurrence of LOC.


Assuntos
Criança , Humanos , Cianose , Diagnóstico , Diagnóstico Diferencial , Eletroencefalografia , Epilepsia , Seguimentos , Prontuários Médicos , Neurologia , Recidiva , Estudos Retrospectivos , Convulsões , Sensibilidade e Especificidade , Síncope , Síncope Vasovagal , Inconsciência , Micção
13.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wpr-76171

RESUMO

Early diagnosis of glomerulonephritis is important in initiating appropriate treatment and controlling chronic glomerular injury that may eventually lead to end-stage renal disease. Although many patients with glomerular disease have only renal involvement, systemic presentations are not uncommon, as frequently resulted from an underlying systemic disease or a factor such as infections, drugs, or metabolic diseases. The presence of an underlying secondary reason should be investigated in each glomerular disease independent of its histopathologic type. Laboratory tests may include C3, C4, ANA, dsDNA, antineutrophil cytoplasmic antibody titers, a streptozyme test, HBV and HCV serologies, and in some cases, blood cultures, anti-glomerular basement membrane antibodies, and cryoglobulins. Although serologic tests may be helpful in establishing a diagnosis in some patients, a renal biopsy is usually performed even if serologic testing is positive. In addition, serologic test may assist in interpretation of the renal pathology.


Assuntos
Humanos , Anticorpos , Anticorpos Anticitoplasma de Neutrófilos , Membrana Basal , Biópsia , Crioglobulinas , Diagnóstico Diferencial , Diagnóstico Precoce , Glomerulonefrite , Falência Renal Crônica , Doenças Metabólicas , Testes Sorológicos
14.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wpr-75954

RESUMO

PURPOSE: Pediatric urolithiasis is uncommon in children but is a cause of significant morbidity and damage to the kidney. Although much information on adult urolithiasis is available in the literature, large studies on the pediatric population are still scarce. In this report, we review our experience with pediatric urolithiasis over 22 years at a tertiary referral center. METHOD: We retrospectively reviewed the records of children with newly diagnosed urolithiasis between January 1991 and May 2013. We assessed the age, sex, family history, initial symptoms, location of stones, underlying cause, stone analysis, treatment, and recurrence among the patients. RESULTS: In total, 137 patients (96 male, 41 female) were assessed. The age range was 0-17 years (mean age, 6.0 years). Forty-three (31%) children were aged <1 year, and 37% (16/43) had a history of intensive care unit (ICU) admission. Thirteen patients (9.5%) had a family history of stones. The most common symptoms at presentation among the patients were gross hematuria (56/137, 41%) and flank or abdominal pain (46/137, 34%). The stones were located in the kidney (85/137, 62%), ureter (29/137, 21%), bladder (2/137, 1.4%), and multiple locations (20/137, 15 %). Congenital abnormalities of the genitourinary (G-U) tract, with or without metabolic abnormality, or urinary tract infection (UTI) was detected in 26 children (19%). Ninety-one patients (66%) underwent metabolic examination, and 38% of these patients exhibited an abnormality. UTI, with or without abnormalities of the G-U tract, or metabolic abnormality was detected in 26 children (19%). Of the 35 stones analyzed, the majority were calcium stones (20/35, 57%), followed by infected stones (5/35, 14%), uric acid stones (4/35, 11%), carbonate apatite stones (3/35, 7%), cystine stones (2/35, 6%), and phosphate stones (1/35, 3%). Five patients (4%) required open procedures, with or without non-open procedures, whereas 77 patients (56%) were managed conservatively; the remaining 55 patients (40%) received some other form of intervention. Eighteen patients (13%) had stone recurrence during the follow-up period. CONCLUSIONS: Pediatric urolithiasis is commonly associated with abnormalities of the G-U tract and/or metabolic disorders and/or UTI. Half of the patients will pass their stones spontaneously, and all the techniques of minimally invasive surgery are applicable in the treatment of children with stones. As the recurrence rates are high among this population, long-term follow-up is recommended and the complete clearance of stones is important.


Assuntos
Adulto , Criança , Humanos , Masculino , Dor Abdominal , Apatitas , Cálcio , Carbono , Anormalidades Congênitas , Cistina , Seguimentos , Hematúria , Unidades de Terapia Intensiva , Rim , Recidiva , Encaminhamento e Consulta , Estudos Retrospectivos , Ureter , Ácido Úrico , Bexiga Urinária , Infecções Urinárias , Urolitíase
15.
Yonsei Medical Journal ; : 1194-1201, 2013.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-74284

RESUMO

PURPOSE: We investigated the effects of proteinuria and renal insufficiency on all-cause mortality in patients with colorectal cancer, with special emphasis on cancer staging and cancer-related deaths. MATERIALS AND METHODS: We retrospectively studied a cohort of patients with colorectal cancer. In protocol 1, patients were classified into four groups based on the operability of cancer and proteinuria: group 1, early-stage cancer patients (colorectal cancer stage < or =3) without proteinuria; group 2, early-stage cancer patients with proteinuria; group 3, advanced-stage cancer patients without proteinuria (colorectal cancer stage=4); and group 4, advanced-stage cancer patients with proteinuria. In protocol 2, patients were classified into four similar groups based on cancer staging and renal insufficiency (eGFR <60 mL/min/1.73 m2). Between January 1, 1998 and December 31, 2009, 3379 patients were enrolled in this cohort and followed until May 1, 2012 or until death. RESULTS: The number of patients with proteinuria was 495 (14.6%). The prevalence of proteinuria was higher in advanced-stage cancer (n=151, 22.3%) than in early-stage cancer patients (n=344, 12.7%). After adjusting for age, gender and other clinical variables, the proteinuric, early-stage cancer group was shown to be associated with an adjusted hazard ratio of 1.67 and a 95% confidence interval of 1.38-2.01, compared with non-proteinuric early-stage cancer patients. However, renal insufficiency was not associated with colorectal cancer mortality. CONCLUSION: Proteinuria is an important risk factor for cancer mortality, especially in relatively early colorectal cancer.


Assuntos
Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Colorretais/complicações , Estadiamento de Neoplasias , Prevalência , Proteinúria/complicações , Insuficiência Renal/complicações , Estudos Retrospectivos , Fatores de Risco
16.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-147755

RESUMO

OBJECTIVE: Preimplantation genetic diagnosis (PGD) is an assisted reproductive technique for couples carrying genetic risks. Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, with a prevalence rate of 1/2,500. In this study, we report on our experience with PGD cycles performed for CMT types 1A and 2F. METHODS: Before clinical PGD, we assessed the amplification rate and allele drop-out (ADO) rate of multiplex fluorescent polymerase chain reaction (PCR) followed by fragment analysis or sequencing using single lymphocytes. We performed six cycles of PGD for CMT1A and one cycle for CMT2F. RESULTS: Two duplex and two triplex protocols were developed according to the available markers for each CMT1A couple. Depending on the PCR protocols, the amplification rates and ADO rates ranged from 90.0% to 98.3% and 0.0% to 11.1%, respectively. For CMT2F, the amplification rates and ADO rates were 93.3% and 4.8%, respectively. In case of CMT1A, 60 out of 63 embryos (95.2%) were diagnosed and 13 out of 21 unaffected embryos were transferred in five cycles. Two pregnancies were achieved and three babies were delivered without any complications. In the case of CMT2F, a total of eight embryos were analyzed and diagnosed. Seven embryos were diagnosed as unaffected and four embryos were transferred, resulting in a twin pregnancy. Two healthy babies were delivered. CONCLUSION: This is the first report of successful pregnancy and delivery after specific PGD for CMT disease in Korea. Our PGD procedure could provide healthy babies to couples with a high risk of transmitting genetic diseases.


Assuntos
Gravidez , Alelos , Doença de Charcot-Marie-Tooth , Estruturas Embrionárias , Características da Família , Coreia (Geográfico) , Linfócitos , Reação em Cadeia da Polimerase , Gravidez de Gêmeos , Diagnóstico Pré-Implantação , Prevalência , Prostaglandinas D , Técnicas de Reprodução Assistida
17.
Infection and Chemotherapy ; : 105-107, 2013.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-108237

RESUMO

We report a case of Serratia marcescens peritonitis in a 45-year-old man with insulin-dependent diabetes mellitus undergoing continuous ambulatory peritoneal dialysis (CAPD). The patient presented with abdominal pain and cloudy dialysate. Empiric antibiotic therapy was initiated intraperitoneally with cefazolin and ceftazidime for 5 days. Cultures of the dialysate revealed S. marcescens, and the treatment was subsequently changed to gentamicin and ceftazidime. Oral ciprofloxacin was also added. The patient's abdominal pain and the dialysate white blood cell (WBC) count, however, did not improve. The indwelling CAPD catheter was therefore removed. This is an unusual case report in the Korean literature of S. marcescens peritonitis in a patient receiving CAPD.


Assuntos
Humanos , Dor Abdominal , Catéteres , Cefazolina , Ceftazidima , Ciprofloxacina , Diabetes Mellitus Tipo 1 , Gentamicinas , Leucócitos , Diálise Peritoneal Ambulatorial Contínua , Peritonite , Serratia , Serratia marcescens
18.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-78974

RESUMO

PURPOSE: Locally advanced esophageal cancers are generally treated with neoadjuvant chemoradiotherapy, followed by surgery in operable candidates. However, even if the patients were diagnosed as operable disease, surgery could not be performed on patients with poor condition or other comorbidity. In this case, definitive chemoradiotherapy (dCRT) is the other option for localized esophageal cancer. Therefore, the purpose of this study was to evaluate the efficacy and clinical prognostic factors for dCRT in locally advanced esophageal cancer. MATERIALS AND METHODS: We conducted a review of patients who received dCRT for locally advanced squamous esophageal cancer from 2004 to 2010, focusing on stages III and IVa. All patients received at least two cycles of platinum-based chemotherapy during radiation, and all tumor burdens were included in the radiation field. The treatment results were analyzed for patterns of failure and prognostic factors associated with survival. RESULTS: In total, 63 patients were enrolled in this study. The overall response rate was 84.1%. Relief from dysphagia after dCRT was achieved in 48 patients. The most frequent failure was local recurrence. The median overall survival (OS) was 23.0 months, and the 2-year survival rate was 45.4%. Similar results were observed for elderly study patients. Significant prognostic factors for OS were duration of smoking, high grade of dysphagia (score of 3 or 4), and shorter duration of progression-free and dysphagia-free survival. Maintenance chemotherapy after dCRT did not influence OS. However, "good risk" patients receiving maintenance chemotherapy showed better OS than those who did not receive maintenance chemotherapy (30.4 months vs. 12.0 months, p=0.002). CONCLUSION: dCRT has a major role in improving survival and palliation of dysphagia in inoperable advanced esophageal cancer, even in elderly patients. Maintenance chemotherapy after dCRT may be effective in prolonging survival in "good risk" patients.


Assuntos
Idoso , Humanos , Carcinoma de Células Escamosas , Quimiorradioterapia , Comorbidade , Transtornos de Deglutição , Tratamento Farmacológico , Neoplasias Esofágicas , Quimioterapia de Manutenção , Prognóstico , Recidiva , Fumaça , Fumar , Taxa de Sobrevida , Carga Tumoral
19.
Chonnam Medical Journal ; : 57-59, 2012.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-226082

RESUMO

A 30-year-old male presented with pitting edema. He had received a kidney transplantation 3 months previously. His serum creatinine level was increased, and a renal ultrasound showed hypoechoic fluid collection in the perirenal space and pelvic cavity. We conducted sono-guided percutaneous drainage of the fluid collected in the pelvic cavity. The chemistry of the peritoneal fluid was more equivalent to serum chemistry values than to urinary values. Simple aspiration and treatment with antibiotics were performed. We have presented a case of lymphocele after kidney transplantation. This case suggests that physicians should remember how to differentiate the pelvic cavity fluid collection in patients who have received a kidney transplant.


Assuntos
Adulto , Humanos , Masculino , Antibacterianos , Líquido Ascítico , Creatinina , Drenagem , Edema , Rim , Transplante de Rim , Linfocele , Transplantes
20.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wpr-189570

RESUMO

PURPOSE: Atopic dermatitis (AD) is a genetically determined, chronic relapsing skin disease. The pathogenesis of AD is complex and the course is unpredictable. Atopy is an important risk factor for the development of AD. Cysteinyl leukotrienes (Cys-LTs) were implicated in the pathophysiology of allergic diseases, and are being targeted for their diagnosis and treatments. Early detection of tissue inflammation of target organ is important to enable early prevention and management of allergic diseases. The aim of our study is to evaluate the differences in urinary leukotrienes E4 (LTE4) levels, according to AD symptom score and aeroallergen sensitization in children with AD by using noninvasive techniques. METHODS: We recruited 46 children with AD, using predetermined criteria. Clinical features of AD were evaluated by a physician, using scoring atopic dermatitis (SCORAD) index. Aeroallergen sensitization was measured by using a skin prick test and UniCap. Urine samples were also collected on day of the 1st and 2nd visits, and were analyzed for LTE4 with an enzyme-linked immunoassay kit. RESULTS: SCORAD indeces of children with AD were correlated with urinary LTE4 levels. Total immunoglobulin E (IgE) and eosinophil counts also had significant correlation with urinary LTE4 levels. Especially, aeroallergen sensitization of atopic AD significantly correlated with urinary LTE4 of these patients. CONCLUSION: Urinary LTE4 levels significantly correlated with serum total IgE and number of sensitized aeroallergen in children with AD. Clinical features of AD evaluated with SCORAD index related with urinary LTE4 level. Urinary LTE4 might be a valuable, noninvasive marker for different pathogenesis of AD.


Assuntos
Criança , Humanos , Dermatite Atópica , Eosinófilos , Imunoensaio , Imunoglobulina E , Imunoglobulinas , Inflamação , Leucotrieno E4 , Leucotrienos , Fatores de Risco , Pele , Dermatopatias
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