Hereditary hypohidrotic ectodermal dysplasia is a genodermatosis that demonstrates in its typical form a triad of hypohidrosis, hypotrichosis, and hypodontia Despite marked abnormalities of ectodermal structures, reports of cataract and corneal opacity have been conspicuously rare. This paper is a report of a case which shows the typical findings of HHED, congenital cataract, and corneal opacity.
Anodontia ; Cataract* ; Corneal Opacity* ; Ectoderm ; Ectodermal Dysplasia 1, Anhidrotic* ; Hypohidrosis ; Hypotrichosis

No abstract available.
Ascites* ; Gallbladder* ; Ultrasonography*

Hydrops of the endolymphatic space in the inner ear deteriorates hearing and balance function. This idiopathic syndrome of endolymphatic hydrops is Meniere's disease and is characterized by episodic vertigo, fluctuating hearing loss, tinnitus and ear fullness. For the pathophysiologic mechanisms of the episode, the progression of the hydrops leads to ruptures in the membranes separating endolymph from perilymph, producing a sudden increase in potassium concentration in the perilymph. Recurrent episodes may interfere with routine daily activities and sometimes accompany sudden drop attacks, so called Tumarkin's otolithic crisis, which may lead to serious injuries. Life style modification, low salt diet and prescription of diuretics have been traditionally tried in order to relieve endolymphatic hydrops. Surgical and destructive treatment options are necessary in selected intractable patients depending on the frequency of vertigo, severity of hearing loss and the possibility of bilateral involvement. However, a large proportion of these patients shows a spontaneous cure of vertigo with the aggravation of hearing loss (burnt out stage) over time. The goal of treatment is trying not to make the patient worse than this natural course of disease.
Diet ; Diuretics ; Dizziness ; Ear ; Ear, Inner ; Edema ; Endolymph ; Endolymphatic Hydrops ; Hearing ; Hearing Loss ; Humans ; Life Style ; Membranes ; Meniere Disease ; Otolithic Membrane ; Perilymph ; Potassium ; Prescriptions ; Rupture ; Syncope ; Tinnitus ; Vertigo

Benign epiepsy of childhood with centrotemporal spikes (BECCT) is an electroclinical syndrome characterized by noctural seizure that remit spontaneoully before adulthood, and belong to idiopathic age and location related epilepsies. We reviewed the medical records to analyse the seizure the seizure pattern, and also inspect the EEG recording to identify topography of the epileptiform discharge of 24 patient who met the following criteria: 1) presence of nocturnal seizure or partial seizure confined to the face, 2) normal intecual and development, 3) normal background EEG feature, 4) monomormhic spikes or sharp wave that increase in the frequency during sleep if those state were achieved. The result as follow: 1) The age of seizure onset were 3 to 11 years old (7.08 1.89) and male to female ratio was 1, 4:1. 2) Past history of birth trauma, CNS infection and other diseases involving CNS, were not found. There was past history of febrile convulsoin 33.3% of patient and epilepsy in 8.3%. One of paient's sister had childhood abscence epilepsy and never a nocturnal partial seizure, also and had centrotemporal spikes in EEG. 3) In 91.7% of Seizures occurred during sleep, especially short after sleep onset and the symptomatology of seizure was shown 66.7% of oropharyngeal sign, such as hypersalivation and gargle sound, and 54.2% of hemifacial involvement, 33.3% of speech arrest, 25.5% of upper limb involement, 18.3% of lower limb involvement, and 45.8% of general seizure. 4) In 91.5% of patients had on location of epileptiform discharge that located central (37.5%) midtemporal (33.3%), parietal and frontal. We could observe tangental dipole in 16.7% of patients.
Child ; Electroencephalography ; Epilepsy ; Epilepsy, Rolandic* ; Female ; Humans ; Lower Extremity ; Male ; Medical Records ; Parturition ; Rabeprazole ; Seizures ; Sialorrhea ; Siblings ; Upper Extremity

Three anopheline mosquitoes in Korea were studied for their abilities as vectors for Plasmodium vivax. The female mosquitoes of Anopheles lesteri, An. pullus and An. sinensis were allowed to suck malaria patient blood until fully fed, and they were then bred for 2 weeks to develop from malaria parasites to sporozoites. The result from the above confirmed the sporozoites in one An. lesteri of one individual and five An. sinensis of six individuals. We also reconfirmed that An. sinensis was the main vector to transmit malaria and An. lesteri as well as An. sinensis were able to carry Korean malaria parasites. Therefore, we propose that diversified study is needed to manage malaria projects.
Adult ; Animals ; Culicidae/*parasitology/*physiology ; Female ; Humans ; *Insect Vectors ; Korea ; Malaria/parasitology/transmission ; Male ; *Plasmodium vivax

No abstract available.
Drug Therapy*

BACKGROUND: Regular blood donation can lead to iron deficiency. Serum ferritin is sensitive indicator of body iron depletion. The aim of this study is to evaluate serum ferritin reagents using the turbidimetric immunoassay (TIA) and to establish a reference range in first time blood donors in Korea. METHODS: The study was prospectively conducted, between Feb. 2011 and Apr. 2011, on 120 male and 120 female blood donors at five blood centers. Serum ferritin was determined by TIA using two brands of reagents (Beckman Coulter Inc., USA; HBi, South Korea) and two automated chemistry analyzers (AU640, Beckman Coulter Inc.; Hitachi7180, Hitachi High-Technologies Corp., Japan). Precision, linearity, limit of detection, analytical measurement range and correlation with chemiluminescent immunoassay (CLIA) were evaluated. A reference range for serum ferritin in first time donors was established. RESULTS: The coefficients of variation of precision were less than 4%. Linearity was observed up to 312.7~450 microg/L depending on which reagent used. Both reagents had good correlation with CLIA results. Serum ferritin levels for first time donors showed left skewed distribution. The reference ranges for males and females were 34.1~385.9 microg/L and 6.8~121 microg/L using Beckman Coulter (AU) reagent, and 18.7~271.3 microg/L and 4~83.7 microg/L using HBi (AU) reagent, and 15.2~274.7 microg/L and 6~84 microg/L using HBi (Hitachi) reagent. CONCLUSION: A reference range for serum ferritin in first time donors in Korea was established using automated chemistry analyzers with inexpensive TIA reagents.
Blood Donors ; Female ; Ferritins ; Humans ; Immunoassay ; Indicators and Reagents ; Iron ; Korea ; Limit of Detection ; Male ; Prospective Studies ; Reference Values ; Tissue Donors

A case of poorly differentiated "insular" carcinoma of the thyroid is presented and discussed with references to the literature. In fine needle aspiration cytology of our case, the aspirates were highly cellular with tumor cells appearing as dispersed isolated cells as well as in dense clusters and syncytial formations. Occasional microfollicles containing colloid were evident. Most of nuclei were fairly uniform with considerable variability and a few showed definite atypical features. Nuclear grooving was additional features. Necrotic debris was not seen. Our cytologic findings were correlated well with histology, confirming typical insular pattern of tumor cells with the presence of occasional pleomorphic cells and papillary carcinoma-like features. With much attention to cytological features of insular carcinoma, it would be possible to diagnose a preoperative suggestive diagnosis, even though not definitive.
Biopsy, Fine-Needle* ; Colloids ; Diagnosis ; Thyroid Gland*

No abstract available.
Obesity, Morbid* ; Polycystic Ovary Syndrome*

We experienced an unusual case of acute encephalopathy in a 4 month-old boy He was admitted to our hospital because of lethargy and seizures after preceding symptoms of upper respiratory tract infection a few days before admission. On admission, he was in semicomatous mental state with decorticated rigidity. Laboratory tests showed normal blood sugar, ammonia, and transaminase levels. CSF was acellular and sterile. Brain MRI in both 71 and 72 weighted-image showed high signal density in both thalami and caudate nucleus head. After recovery, neurologic sequales of developmental delay, mental retardation, right hemiplegia and seizure remained. We report a case of acute encephalopathy that have clinical course similar to Reye syndrome but have specific brain image.
Ammonia ; Blood Glucose ; Brain ; Caudate Nucleus ; Head ; Hemiplegia ; Humans ; Infant ; Intellectual Disability ; Lethargy ; Magnetic Resonance Imaging ; Male ; Respiratory Tract Infections ; Reye Syndrome ; Seizures