Twenty years old Korean male patient with Hallermann-Streiff syndrome who developed glaucoma is reported. The clinical features are dyscephalia with mandibulo-oculo-facial malformation, bilateral congenital cataract, dental anomalies, hypotrichosis, microphthalmia, nanism and the secondary complications. A brief review of literature is described.
Cataract ; Dwarfism ; Glaucoma ; Hallermann's Syndrome* ; Humans ; Hypotrichosis ; Male ; Microphthalmos

BACKGROUND: The study was designed to provide a comprehensive comparison of the nerve conduction velocities(NCVs) and current perception thresholds(CPTs) in evaluating the clinical severity of diabetic neuropathy. METHODS: The seventy-eight individuals(mean age : 43.5 years, M:F = 40:38) with diabetes neuropathy of varying degrees of severity were selected after exclusion of any other potential causes of peripheral neuropathies or radiculopathies. Detailed, scored neurological symptoms(symptom score . 0-10) and physical examination(physical score : 0-48), emphasizing sensory assessment, were performed in all subjects. In addition, NCVs of motor and sensory nerves, CPTs at 5, 250, 2000Hz of the upper and lower extremities were determined. Non-parametric correlation analysis(Spearman rho) was performed as a measure of association of symptoms and physical score with the various electrodiagnostic variables. RESULTS: Correlations between physical scores(PS) and symptom scores(55) and NCVs were significant. In most parameters, but their values of coefficients were relatively weak(rho = 0.12-0.41), particularly for the correlations of symptom scores with the motor NCVs. But, correlations of the 55 and PS with CPTs were higher than with NCVs[rho(ss): 0.25-0.38, rho(PS) : 0.32-0.60]. The correlations between PS and subgroups of CPTs were significant, but those between SS, PS and NCV were insignificant. Among the 3 types of frequencies, CPTs at 5Hz was the most effective discriminator in the lowest physical and symptom scores. CONCLUSIONS: CPT measurements were more effective as discriminators of both symptomatic and physical status than NCV measurements. So, the supplementary use of CPT testing may improve the quantitative assessment of this condition.
Diabetic Neuropathies* ; Lower Extremity ; Neural Conduction ; Peripheral Nervous System Diseases ; Radiculopathy

Steroid myopathy is one of the most common drug-induced myopathy. We report a case of iatrogenic steroid myopathy in a 61-year-old female who had taken herb medication more than 2 months. She presented a slowly progressive proximal muscle weakness and wasting with typical features of cushing syndrome. Needle EMG showed typical myopathic patterns. The muscle biopsy revealed a pronounced muscle fiber atrophy and fatty degenerative change without inflammation. In addition, there was a selective type 2 fiber depletion on ATPase staining in pH 9.4 buffer. Her muscle powers and bulks were slowly improved after discontinuation of herb medication with phenytoin and physical therapy.
Adenosine Triphosphatases ; Atrophy ; Biopsy ; Cushing Syndrome* ; Female ; Humans ; Hydrogen-Ion Concentration ; Inflammation ; Middle Aged ; Muscle Weakness ; Muscular Diseases* ; Needles ; Phenytoin

In recent years, next-generation sequencing (NGS)–based genetic testing has become crucial in cancer care. While its primary objective is to identify actionable genetic alterations to guide treatment decisions, its scope has broadened to encompass aiding in pathological diagnosis and exploring resistance mechanisms. With the ongoing expansion in NGS application and reliance, a compelling necessity arises for expert consensus on its application in solid cancers. To address this demand, the forthcoming recommendations not only provide pragmatic guidance for the clinical use of NGS but also systematically classify actionable genes based on specific cancer types. Additionally, these recommendations will incorporate expert perspectives on crucial biomarkers, ensuring informed decisions regarding circulating tumor DNA panel testing.

In recent years, next-generation sequencing (NGS)–based genetic testing has become crucial in cancer care. While its primary objective is to identify actionable genetic alterations to guide treatment decisions, its scope has broadened to encompass aiding in pathological diagnosis and exploring resistance mechanisms. With the ongoing expansion in NGS application and reliance, a compelling necessity arises for expert consensus on its application in solid cancers. To address this demand, the forthcoming recommendations not only provide pragmatic guidance for the clinical use of NGS but also systematically classify actionable genes based on specific cancer types. Additionally, these recommendations will incorporate expert perspectives on crucial biomarkers, ensuring informed decisions regarding circulating tumor DNA panel testing.