No abstract available.
Dopamine Plasma Membrane Transport Proteins* ; Dopamine* ; Electrons* ; Humans ; Positron-Emission Tomography*

Background: Automated hematology analyzers report various research parameters. Certain parameters may have clinical implications, whereas others are used to set flags in automated hematology analyzers. In this study, we established sex-specific reference intervals for one reticulocyte parameter and two platelet clump parameters in Korean adults and examined the necessity of separate reference intervals for each sex. Methods: A total of 264 healthy adults (157 men and 107 women) aged between 18 and 65 years who underwent regular health check-ups were enrolled. Complete blood cell count was measured using Advia2120i (Siemens, Germany) within 4 hours of phlebotomy. Reference intervals were established according to the Clinical and Laboratory Standards Institute EP28-A3 guideline, and the necessity of separate sex-specific reference intervals was examined according to the method outlined by Harris and Boyd. Results: The reference intervals for each parameter were as follows:reticulocyte hemoglobin (g/L), 132.8–172.0 (men), 96.7–162.8 (women); the number of platelet clumps (# platelet clumps), 10.8–61.0 (men), －22.5–64.4 (women); and %platelet clumps, 0.20–1.49 (men), －0.57–1.53 (women).Reticulocyte hemoglobin showed a significant difference between men and women, whereas # platelet clumps and %platelet clumps did not; however, all three parameters needed separate sex-specific reference intervals. Conclusions We established sex-specific reference intervals for a reticulocyte parameter and platelet clumps parameters in Korean adults for the first time.The results could provide helpful information in clinical decision-making and instrument setting.

Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia. Familial hyperekplexia has a heterogeneous genetic background with several identified causative genes; it demonstrates both dominant and recessive inheritance in the α1 subunit of the glycine receptor (GLRA1), the β subunit of the glycine receptor and the presynaptic sodium and chloride-dependent glycine transporter 2 genes. Clonazepam is an effective medical treatment for hyperekplexia. Here, we report genetically confirmed familial hyperekplexia patients presenting early adult cautious gait. Additionally, we review clinical features, mode of inheritance, ethnicity and the types and locations of mutations of previously reported hyperekplexia cases with a GLRA1 gene mutation.
Accidental Falls ; Adult ; Apnea ; Clonazepam ; Gait* ; Genetic Background ; Glycine Plasma Membrane Transport Proteins ; Humans ; Nervous System Diseases ; Noise ; Phenotype* ; Pneumonia, Aspiration ; Receptors, Glycine ; Reflex, Startle ; Sodium ; Stiff-Person Syndrome* ; Wills