ABSTRACT
Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We analyzed the results of a genetic test in 29 DMD/BMD patients, their six female relatives, and two myopathic female patients in Korea. As the methods developed, we applied different procedures for dystrophin gene analysis; initially, multiplex polymerase chain reaction was used, followed by multiplex ligation-dependent probe amplification (MLPA). Additionally, we used direct DNA sequencing for some patients who had negative results using the above methods. The overall mutation detection rate was 72.4% (21/29) in DMD/BMD patients, identifying deletions in 58.6% (17/29). Most of the deletions were confined to the central hot spot region between exons 44 and 55 (52.9%, 7/19). The percentage of deletions and duplications revealed by MLPA was 45.5% (5/11) and 27.2% (3/11), respectively. Using the MLPA method, we detected mutations confirming their carrier status in all female relatives and symptomatic female patients. In one patient in whom MLPA revealed a single exon deletion of the dystrophin gene, subsequent DNA sequencing analysis identified a novel nonsense mutation (c.4558G > T; Gln1520X). The MLPA assay is a useful quantitative method for detecting mutation in asymptomatic or symptomatic carriers as well as DMD/BMD patients.
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , DNA Mutational Analysis , Dystrophin/genetics , Exons , Heterozygote , Ligase Chain Reaction , Multiplex Polymerase Chain Reaction , Muscular Dystrophy, Duchenne/genetics , Mutagenesis, Insertional , Republic of Korea , Sequence Analysis, DNA , Sequence DeletionABSTRACT
Cone-beam computed tomography (CBCT) is a useful diagnostic tool for identification of both internal and external root configurations. This case report describes the endodontic management of a lateral incisor with both dens invaginatus and external root irregularity by using CBCT. Nonsurgical endodontic retreatment was performed on the lateral incisor with dens invaginatus. A perforation through the dens invaginatus and external concavity was repaired using mineral trioxide aggregate. After 18 mon of follow-up, there were no clinical symptoms. Recall radiographs appeared normal and showed healing of the periapical pathosis. The understanding of both internal root canal configuration and external root irregularity using CBCT can ensure predictable and successful results.
Subject(s)
Aluminum Compounds , Calcium Compounds , Cone-Beam Computed Tomography , Dental Pulp Cavity , Dietary Sucrose , Drug Combinations , Follow-Up Studies , Incisor , Oxides , Retreatment , SilicatesABSTRACT
PURPOSE: Juvenile dermatomyositis (JDM) is a common inflammatory myopathy in childhood. However, the diagnosis is often delayed because it frequently present with non-specific symptoms. In addition, there are conflicting opinions about the prognostic factors of JDM. The aim of this study is to delineate the initial clinical symptoms and prognostic factors of JDM. METHODS: We retrospectively reviewed the medical records of 15 patients who were diagnosed as JDM, in Samsung medical center between Dec 1994 and Aug 2011. RESULTS: We enrolled 15 patients (M:F=9:6). Among the 14 patients who were followed-up for more than six months, six patients were included in remission group, five in partial remission group, and the other three in non-remission group. The initial symptoms were skin lesions (80.0%), muscle weakness (53.3%), and pain of joint or muscle (46.7%). The interval between initial symptoms and clinical diagnosis was mean 0.4 (0.1-2.4) years. Nine patients (60%) were taken more than two months for diagnosis. The symptoms at diagnosis were motor weakness and skin rash in all patients, myalgia or arthralgia in 12 (75%) patients. The mood changes such as depression, irritability, easy fatigability were noted in 10 (66.7%) patients. There were no significant prognostic factors. CONCLUSION: Although JDM may initially present with nonspecific symptoms in children, it should be suspected in case of acute progressive motor weakness with symmetric skin rash and mood change. About three quarters of the patients were under control with treatment and there were no significant prognostic factors in this study.
Subject(s)
Child , Humans , Arthralgia , Depression , Dermatomyositis , Exanthema , Joints , Medical Records , Muscle Weakness , Muscles , Myositis , Retrospective Studies , SkinABSTRACT
PURPOSE: Perinatal ischemic stroke (PIS) has been increasingly recognized and regarded as one of the major causes of neurological disability occurring in the neonatal period. Due to its vague presenting symptoms, the clinical diagnosis of PIS can be delayed. The aim of this study was to delineate the clinical and radiological characteristics of PIS in order to establish its early diagnosis. METHODS: From January 2002 to October 2010, 24 neonates with evidence of ischemic cerebral infarction on brain magnetic resonance imaging (MRI) were enrolled. Perinatal and neonatal clinical characteristics, electroencephalogram (EEG), and brain MRI findings were retrospectively reviewed. Using those data, analysis was done to elicit clues for early diagnosis and prognostic factors of PIS. RESULTS: Sixteen males and eight females were diagnosed with PIS. Twelve cases presented with apnea and ten patients with seizures. The diagnosis of PIS was confirmed by brain MRI. Sixteen patients (66.7%) had infarction in the territory of the middle cerebral artery, and fifteen neonates had infarction in the left hemisphere. Of 11 infants who presented with a focal lesion on brain MRI, three patients were diagnosed by diffusion weighted images (DWI). Their T2- and FLAIR sequences showed subtle signal changes, whereas DWI revealed bright signal intensity. Thirteen patients were included in the delayed diagnostic group (diagnostic interval >24 hours). In those patients, apnea (69.2%) was more likely than seizures (15.4%) to be the initial symptom. The extent of the lesion on brain MRI was likely to be a better predictor of the neurologic outcome. Hemiplegia or hemiparesis was found in seven patients who had extensive lesions involving the gray and white matter, internal capsule, and basal ganglia. CONCLUSION: PIS should be considered as a differential diagnosis for neonates who present with apnea, lethargy or subtle seizures. DWI of brain MRI is very useful for early diagnosis of PIS. The extent of the lesion was also found to be significantly associated with poor outcome.
Subject(s)
Female , Humans , Infant , Infant, Newborn , Male , Apnea , Brain , Cerebral Infarction , Diagnosis, Differential , Diffusion , Early Diagnosis , Electroencephalography , White People , Hemiplegia , Infarction , Internal Capsule , Lethargy , Magnetic Resonance Imaging , Middle Cerebral Artery , Neurologic Manifestations , Paresis , Retrospective Studies , Seizures , StrokeABSTRACT
Aromatic antiepileptic drugs (AEDs), such as diphenylhydantoin, phenobarbital, or carbamazepine (CBZ), are frequently associated with hypersensitivity reactions. This may restrict treatment options considerably due to cross reactivity with other aromatic AEDs. Desensitization can be very helpful for patients who show cross sensitivity with other AEDs. We report a case an 8-year-old patient who had cross sensitivity to oxcarbazepine (OXC) and CBZ and successfully managed by desensitization to OXC. The patient presented with intractable frontal lobe epilepsy. He had become seizure free with OXC; however OXC had to be discontinued due to whole body rash. CBZ also caused a hypersensitivity reaction. Therefore, OXC desensitization was attempted; he then had very subtle seizures during sleep with a frequency of 5 to 6 episodes per month on the 18th month of desensitization. Desensitization can be considered in a patient with limited treatment options due to hypersensitivity to aromatic AEDs.
Subject(s)
Child , Humans , Anticonvulsants , Carbamazepine , Epilepsy, Frontal Lobe , Exanthema , Hypersensitivity , Phenobarbital , Phenytoin , SeizuresABSTRACT
PURPOSE: We performed this study to investigate the perinatal and developmental features of the patients with congenital myotonic dystrophy (CDM) confirmed by the molecular genetic method and the clinical characteristics of their mother, and to identify the relation between the number of CTG repeats and the clinical severity. METHODS: A retrospective review of the medical records and the results of the dystrophia myotonica protein kinase (DMPK) gene test was done for the patients who were confirmed as CDM through gene analysis from January 2001 to September 2006. RESULTS: All of the eight patients (male 2, female 6) showed moderate to severe degree of perinatal distress and feeding difficulty associated with profound hypotonia. Three patients had the history of polyhydramnios and two patients had equinovarus deformity. The developmental milestones were delayed in all patients, which improved gradually with age. All of their mothers demonstrated myotonic symptoms and typical myopathic face. The number of CTG repeats in DMPK gene analysis ranged 1,000-2,083, and there was no significant correlation between the number of CTG repeats and the time of walking alone. CONCLUSION: All patients with CDM presented with severe hypotonia in perinatal period, and developmental delay thereafter, which were improved with age. All of their mothers manifested myotonic symptoms with typical myopathic face, and the identification of such features greatly contributed to the diagnosis of the patients. The number of CTG repeats had no significant influence on the motor development.
Subject(s)
Female , Humans , Clubfoot , Congenital Abnormalities , Diagnosis , Medical Records , Molecular Biology , Mothers , Muscle Hypotonia , Myotonic Dystrophy , Polyhydramnios , Protein Kinases , Retrospective Studies , Trinucleotide Repeats , WalkingABSTRACT
PURPOSE: Dialysis in children with chronic renal failure presents with many difficulies. The purpose of this study is to find an improved method in chronic dialysis in infants and children less than 2 years of age by analyzing the experience with 10 cases. METHODS: A retrospective review of the medical records of 10 patients(6 boys and 4 girls) was conducted. The patients had chronic renal failure and underwent chronic dialysis at Samsung medical center from March 1999 to February 2007. RESULTS: At initiation of dialysis, the median age was 3 months old(22 days-20 months), the median body weight was 3.75 kg(2.2-10.3 kg), and the median serum creatinine level was 4.3 mg/dL(2.0-11.4 mg/dL). The median duration of dialysis was 29.5 months(3-62 months). Dysplastic kidney disease was the most common underlying renal disease. Two patients were treated with hemodialysis, 4 patients with peritoneal dialysis, and 4 patients eventually switched dialysis modality. Nine of the 10 patients took erythropoietin and anti-hypertensive drugs. At the end of the follow up period, 1 patient received kidney transplantation, 2 patients died due to sepsis, and 5 patients were treated with peritoneal dialysis. Two patients were lost to follow up. The most common complication of dialysis was infection. Achieving vascular access and maintaining proper catheter function were the most important factors in treating patients with hemodialysis. The growth status of patients was aggravated after 6 month of dialysis but improved after 1 year of dialysis. Patients showed better growth on peritoneal dialysis than hemodialysis. CONCLUSION: Chronic dialysis can be performed successfully in infants and children under 2 years of age. Vascular access was the main limitation of hemodialysis, and infection was the common problem in both hemodialysis and peritoneal dialysis. To improve the patients survival rate and quality of life, major efforts should be directed toward the prevention of infection and preservation of catheter function.