No abstract available.
Animals ; Neurons* ; Rats*

The Pill Questionnaire (PillQ) has been proposed as a simple way to evaluate cognitive deficits and their impact on the daily lives of those with Parkinson’s disease (PD) by asking patients or caregivers about whether patients can independently manage their pills. We used the PillQ to investigate the association of ability to manage medication with cognition and activities of daily living (ADLs) in patients with PD. Patients were divided into two groups based on PillQ scores. The no-impact group was able to take their antiparkinsonian medication independently, and the impact group exhibited problems describing their treatment or taking their drugs independently. A total of 208 participants (93 men) were included. 111 patients (53.4%) were included in the no-impact group, and 97 (46.6%) were included in the impact group. The impact group showed significantly lower cognitive functioning, difficulties with the performance of ADLs, and severe motor dysfunction. PillQ scores were significantly correlated with Mini-Mental State Examination and the Montreal Cognitive Assessment, and Clinical Dementia Rating scores. Management of medication by PD patients is associated with cognitive function, and the PillQ is an easy and useful test for detecting cognitive impairment and its impact on daily life.

Background & Objective: The MAPT H1 haplotype and SNCA single nucleotide polymorphism (SNP) rs356219 have been reported to have a synergistic effect on the risk of Parkinson’s disease (PD). Because the H1/H1 genotype has been reported to predominate in Korean population, we investigated the polymorphism of rs356219 in 878 PD patients and 559 controls. Methods: The SNCA SNP rs356219 was analyzed in 878 PD patients and in 559 healthy Korean subjects. Results: The G allele of SNCA SNP rs356219 was found to contribute to PD susceptibility with odds ratios (ORs) similar to those reported previously. However, the ORs were not as large as that of the SNCA rs356219 plus MAPT H1/H1 combination reported in the literature, which cast doubt on the existence of a synergistic effect between the two genotypes in our population. Conclusions: This study supports that the G allele of the SNCA SNP rs356219 contributes to PD susceptibility as reported previously, but it does not support the presence of a synergistic interaction between SNCA and MAPT.

Objectives: To survey daily doses of dopaminergic medications and to draw a posteriori equation of the dose in relation to the various clinical variables in Korean patients with Parkinson disease. Methods: A multi-center cross-sectional survey was conducted over a defi ned period. Information on patient demographics and clinical features including age at Parkinson disease onset, disease duration, treatment duration and Hoehn and Yahr stage, and daily doses of anti-parkinsonian drugs was obtained from the patients’ medical records. Results: A total of 1,762 patients with Parkinson disease were recruited from 6 referral centers. The mean L-dopa equivalent daily dose (LEDD) in the whole population was 608.9 mg/day, which tended to increase linearly depending on the duration of disease and Hoehn and Yahr stage. LEDD was also signifi cantly affected by age and gender. We performed multiple linear regression analyses and devised a posteriori equation of LEDD with clinical variables. Conclusions: This survey provides systematic data for mean LEDD in Korean Parkinson disease patients. In spite of profound individual variations in LEDD, our linear regression model provides an insight about the relationship between daily doses of dopaminergic medications and various clinical features of Parkinson disease.

Hemichorea is usually caused by lesions in the contralateral subthalamus and basal ganglia. Ipsilateral lesions have rarely been reported to be responsible for the abnormal movement. A 27 year-old woman with well-controlled hyper-thyroidism presented with sudden involuntary movements in the right limbs and a mild headache. The movements were random, irregular, repetitive, and most prominent in the right hand and forearm, but also found in the right leg and face. She experienced no weaknesses in the contralateral limbs. A brain magnetic resonance imaging(MRI) taken after 7 days showed early subacute hematoma in the right basal ganglia. There were no lesions in the left hemisphere. In a cerebral angiography, the bilateral major cerebral vessels were narrowed around the circle of Willis. We critically review previous reports of and explanations for the development of ipsilateral hemichorea.
Adult ; Basal Ganglia Hemorrhage* ; Basal Ganglia* ; Brain ; Cerebral Angiography ; Cerebral Hemorrhage ; Circle of Willis ; Dyskinesias ; Extremities ; Female ; Forearm ; Hand ; Headache ; Hematoma ; Humans ; Leg ; Subthalamus

PURPOSE: Anemia of prematurity is frequent in preterm infants, for which red blood cell (RBC) transfusion remains the treatment of choice. In this study, we attempted to evaluate the characteristics and risk factors of anemia of prematurity, and suggest ways to reduce anemia and the need for multiple transfusions. MATERIALS AND METHODS: Preterm infants weighing less than 1500 g (May 2008-May 2009) were divided into two groups depending on whether they received RBC transfusions (transfusion group and non transfusion group). Hemoglobin (Hb) concentration, phlebotomy blood loss, and the amount of RBC transfusion were analyzed. Risk factors of anemia and RBC transfusions were analyzed. RESULTS: Fifty infants that survived were enrolled in the present study: 39 in the transfusion group and 11 in the non transfusion group. Hb concentrations gradually decreased by eight weeks. In the transfusion group, gestational age and birth weight were smaller, bronchopulmonary dysplasia and sepsis were more frequent, full feeding was delayed, parenteral nutrition and days spent in the hospital were prolonged, and phlebotomy blood loss was greater than that in the non transfusion group. CONCLUSION: Anemia of prematurity was correlated with increased laboratory blood loss, decreased birth weight, prolonged parenteral nutrition, and delayed body weight gain. Accordingly, reducing laboratory phlebotomy loss and parenteral nutrition, as well as improving body weight gain, may be beneficial to infants with anemia of prematurity.
Anemia, Neonatal/complications/*therapy ; Birth Weight ; Erythrocyte Transfusion/*adverse effects ; Gestational Age ; Hemoglobins/metabolism ; Humans ; Infant, Newborn ; *Infant, Premature ; *Infant, Very Low Birth Weight ; Retrospective Studies ; Risk Factors

No abstract available.
Cisplatin* ; Drug Therapy* ; Humans ; Ifosfamide* ; Paclitaxel*

During summer and fall months (from June to November), enteroviral infection is more common than group B streptococcal infection or herpes simplex viral infection in neonates. Enteroviruses are divided into polioviruses, coxsackieviruses A, coxsackieviruses B, and echoviruses. Enteroviruses can cause a wide spectrum of acute illnesses ranging from non-specific febrile illness, upper respiratory tract infection or gastroenteritis, to severe diseases such as myocarditis, and encephalitis. Coxsackieviruses B are important neonatal pathogens, which can cause meningoencephalitis, disseminated intravascular coagulopathy, and cardiomyopathy. Transplacental transmission of coxsackievirus or perinatal transmission by inhalation or swallowing of cervical secretion or feces during delivery causes more severe diseases than postnatal transmission by horizontal transmission in nursery or neonatal intensive care unit, due to larger load of viruses. Four preterm infants had severe coxsackieviral B infection with thrombocytopenia, meningitis, disseminated intravascular coagulopathy, and myocarditis within seven days of age during this June. Coxsackieviruses B were detected from their feces, cerebrospinal fluid, and blood. Viruses might be transmitted prenatally through placenta from mother to fetus, which caused severe disease. Coxsackieviruses B infections have to be considered in the neonates with sepsis-like illness during summer and fall months, or enteroviral seasons.
Cardiomyopathies ; Cerebrospinal Fluid ; Deglutition ; Encephalitis ; Enterovirus ; Enterovirus B, Human ; Feces ; Fetus ; Gastroenteritis ; Herpes Simplex ; Humans ; Infant, Newborn ; Infant, Premature ; Inhalation ; Intensive Care, Neonatal ; Meningitis ; Meningoencephalitis ; Mothers ; Myocarditis ; Nurseries ; Placenta ; Poliovirus ; Respiratory Tract Infections ; Seasons ; Streptococcal Infections ; Thrombocytopenia

PURPOSE: The purpose of this study was to investigate the clinical features of neonatal seizures and to identify prognostic factors of neurodevelopmental outcome in term infants who experienced clinical seizures. METHODS: A retrospective analysis was performed on 153full term and preterm infants with seizures from January 2008 to December 2013. Binary logistic regression analysis was applied to assess risk factors associated with neurological adverse outcomes using variables that were found to be significant on univariate analysis. RESULTS: During the study period, 102 (66.7%) term and 51 (33.3%) preterminfants were enrolled. The main cause of neonatal seizures was hypoxic ischemic encephalopathy (24.5%) in term infants and intracranial hemorrhage (74.5%) in preterm infants. The most common type of seizure was focal clonic seizure. Generalized tonic seizure was more commonly observed in preterm than in term infants. 39 out of 56 term infants with at least 12 months of neurologic follow-up showed normal outcomes while only one preterm infant showed normal development.Prognostic factors related to adverse neurodevelopmental outcomes in term infants were perinatal history of fetal distress, etiology of hypoxic ischemic encephalopathy, severity of EEG(Electroencephalogram) abnormality, evidence of hypoxic ischemic encephalopathy on brain magnetic resonance imaging, and the need for multiple antiepileptic drugs for seizure control. CONCLUSION: Preterm infants showed poorer neurodevelopmental outcomes compared to term infants. The etiology of seizures, treatment response, neuroimaging and electroencephalographic findings were important in predicting the developmental outcome in term infants with seizures.
Anticonvulsants ; Brain ; Epilepsy, Partial, Motor ; Fetal Distress ; Follow-Up Studies ; Humans ; Hypoxia-Ischemia, Brain ; Infant ; Infant, Newborn ; Infant, Premature ; Intracranial Hemorrhages ; Logistic Models ; Magnetic Resonance Imaging ; Neuroimaging ; Prognosis ; Retrospective Studies ; Risk Factors ; Seizures*

The 1q terminal deletion syndrome is a rare chromosomal disorder which was first reported by Mankinen et al. in 1976. This disorder has shown to have broad and diverse clinical phenotypes. Specific phenotypes of 1q terminal deletion syndrome include microcephaly, seizures, psychomotor retardation, growth retardation, abnormalities of extremities, corpus callosum, heart and genitalia. Although this disorder has diverse clinical manifestations, almost all cases of 1q44 deletion syndrome have growth, psychomotor, and mental retardation and progressive microcephaly. The first diagnosis of 1q44 deletion syndrome in Korea was made by fluorescent in situ hybridization analysis in a 4-month-old girl with craniofacial anomalies, multiple congenital anomalies, and growth and psychomotor retardation. We report the second domestic case of 1q44 deletion syndrome with cleft palate, facial dysmorphism, single umbilical artery, foot abnormality, progressive microcephaly, growth and psychomotor retardation which was confirmed by microarray for comparative genomic hybridization. We also compare this case with previously reported cases of 1q44 deletion syndrome.
Chromosome Disorders ; Chromosomes, Human, Pair 1 ; Cleft Palate ; Comparative Genomic Hybridization ; Corpus Callosum ; Developmental Disabilities ; Diagnosis ; Extremities ; Female ; Foot ; Genitalia ; Heart ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Intellectual Disability ; Korea ; Microcephaly* ; Oligonucleotide Array Sequence Analysis ; Phenotype ; Seizures ; Single Umbilical Artery