PURPOSE:Hypochondroplasia is a skeletal dysplasia characterized by poor childhood growth and an inadequate pubertal growth spurt. Final height attainment of hypochondroplasia has been reported to range between 120 and 152cm. Increased availability of growth hormone with the introduction of recombinant human growth hormone has allowed for clinical trials in a number of growth hormone sufficient children with growth problems. The purpose of this study was to assess the growth promoting effect of human growth hormone in children with hypochondroplasia. METHODS:Five patients with hypochondroplasia diagnosed by clinical and radiological findings between 1993 and 1997 at our hospital was aged 3 and 1/2 -11 and 1/2 years. Each patients continuously received human growth hormone 0.6-0.7U/Kg/week, intramuscularly or subcutaneously in 6-7 divided dose for 2 years. Standard auxologic assessment was carried out every 3 month interval in the first year after commencement of therapy and then same assessment was 6 monthly. Bone age was assessed 6 monthly using Gleurich-Pyle method. RESULTS:Mean height velocity of pretreatment and year 1 and 2 of GH treatment were 3.9+/-0.7, 6.5+/-1.8 and 5.7+/-1.5cm/year, respectively. Mean height standard deviation score for chronological age of pretreatment and year 1 and 2 of GH treatment were -2.7+/-0.3, -2.4+/-0.3 and -2.2+/-0.4, respectively. The increase in the height velocity diminishes over the subsequent year. The increment of bone age after GH treatment were same as the increments of chronological age. CONCLUSION: Short-term GH therapy increases the height velocity of children with hypochondroplasia, but the effect of GH therapy on final height remains unknown.
Child* ; Growth Hormone* ; Human Growth Hormone ; Humans

Purpose: To evaluate the changes in peripapillary retinal nerve fiber layer (pRNFL) thickness and macular ganglion cell-inner plexiform layer (mGC-IPL) thickness measured by swept source optical coherence tomography (SS-OCT) following cataract surgery in patients with glaucoma. Methods: We included 42 glaucoma eyes and 42 case-matched normal eyes that underwent cataract surgery without complications. One matching set included one glaucoma eye and one case-matched normal eye. The age, sex, and cataract subtype scores were similar for each group. Before and within 3 months of surgery, we measured the pRNFL thickness and mGCIPL thickness by SS-OCT. Results: Following cataract surgery, the image quality (IQ) of SS-OCT improved in both groups. The thickness of the pRNFL and mGC-IPL increased in the mean values and all areas, except for pRNFL from 1 to 4 o’clock in the glaucoma group and at 1 o’clock in the normal group. Posterior subcapsular cataract was related to the change in IQ following surgery. The glaucoma and normal group showed greater pRNFL thickness change due to lesser preoperative pRNFL thickness. Furthermore, the mGC-IPL thickness change was greater in the glaucoma group because of lesser preoperative mGC-IPL thickness. By contrast, the normal group demonstrated greater mGC-IPL thickness change due to higher cortical cataract scores. Conclusions Cataracts caused the deterioration of the IQ in SS-OCT, thereby resulting in an undermeasurement of the pRNFL and mGC-IPL thickness. Preoperative pRNFL and mGC-IPL were negatively associated with postoperative pRNFL and mGCIPL thickness change in the glaucoma and normal groups. Therefore, ophthalmologists should particularly consider the effect of cataract while diagnosing glaucoma using SS-OCT.

Cowden's disease (CD) is rare multiple hamartoma-neoplasia syndrome. Lhermitte-Duclos disease (LDD) is well known to be a hamartoma of the cerebellum. CD may be accompanied with LDD and other multiple systemic neoplasias. We report here on a case of CD-LDD complex with multiple systemic neoplasia.
Brain ; Cerebellum ; Hamartoma ; Hamartoma Syndrome, Multiple*

Purpose: This study aimed to determine whether limited T2-weighted-only lumbar spine MRI is clinically available to patients visiting pain intervention clinic for radicular pain. Materials and Methods: A total of 110 patients (mean age: 63.5 ± 16.1 years) with low back pain (LBP) or sciatica who underwent limited T2-weighted-only lumbar MRI using T2-weighted sagittal and axial sequences were enrolled. All MRI scans were reviewed by two radiologists for degenerative spinal lesions that most correlated with each patient’s symptoms. All patients received spinal injections. Treatment response was recorded based on patients’ subjective evaluations and an 11-point numerical rating scale. Clinical characteristics and changes in the diagnosis of patients who had undergone previous MRI or additional MRI within six months were also analyzed. Results: Using limited T2-weighted-only lumbar spine MRI, acquisition time and cost for imaging examinations were effectively reduced. Pathologic lesions corresponding to clinical symptoms were detected in most (95%) patients. Symptoms had improved in 78.1% of patients at the 6-month follow-up. Further imaging work-up was not performed for any subject during the study period because there was clear indication (no doubt) for other diagnoses on the limited T2-weighted-only lumbar spine MRI or during the clinical follow-up. Conclusion Limited T2-weighted-only lumbar spine MRI comprising T2-weighted sagittal and axial images may sufficiently detect degenerative changes of the lumbar spine in patients with LBP and sciatica. Treatment responses are satisfactory, effectively reducing scan time and costs.

Orofacial granulomatosis (OFG) is a rare chronic granulomatous disease of oral mucosa and maxillofacial region that clinically presents recurrent or persistent orofacial swelling. OFG may exist as an integration of the spectrum of various disorders, including Melkersson-Rosenthal syndrome, granulomatous cheilitis, Crohn’s disease, sarcoidosis, infectious diseases and delayed hypersensitivity reaction to food additives, dental materials. Precise etiology is not yet to be elucidated. Herein, we report two rare cases of orofacial granulomatosis who presented similar clinical manifestation of lip swelling but was diagnosed as a sarcoidosis and as a granulomatous cheilitis.

PURPOSE: This study was performed to examine the effects of image filter on observer performance by counting the number of holes at each wedge step on a radiographic image. MATERIALS AND METHODS: An aluminum step wedge with 11 steps ranged in thickness from 1.5 mm to 16.5 mm in 1.5 mm increments was fabricated for this study. Each step had 10 notched holes with 1.0 mm diameter on the bottom of the step wedge which were ranged in depths from 0.1 mm to 1.0 mm in 0.1 mm increments. Digital radiographic raw images of the aluminum step wedge were acquired by using CCD intraoral sensor. The images were processed using several types of noise reduction filters and kernel sizes. Three observers counted the number of holes which could be discriminated on each step. The data were analyzed by ANOVA. RESULTS: The number of holes at each step was decreased as the thickness of step was increased. The number of holes at each step on the raw images was significantly higher than that on the processed images. The number of holes was different according to the types and kernel sizes of the image filters. CONCLUSION: The types and kernel sizes of image filters on observer performance were important, therefore, they should be standardized for commercial digital imaging systems.
Aluminum ; Noise ; Radiographic Image Enhancement ; Radiography, Dental ; Task Performance and Analysis

Brown tumor is a histologically benign lesion that is a serious complication of renal osteodystrophy because it may result in severe deformity and discomfort. We report a case of brown tumor, which occurred in a 35-year-old woman with chronic renal failure, who had been treated with hemodialysis for 14 years. The lesion was found on the lingual side of the mandible. Standard panoramic radiograph showed generally decreased bone mineral density, loss of lamina dura, and thin cortical plates. Computed tomography (CT) revealed multilocular expansile lesions with heterogeneous attenuation in the anterior mandible, as well as generalized trabecular alteration with homogeneous sclerosis, and thinning or obliteration of cortical plates. Excision of the mandibular lesion and curettage of the affected bone were performed.
Adult ; Bone Density ; Congenital Abnormalities ; Curettage ; Female ; Humans ; Kidney Failure, Chronic ; Mandible ; Renal Dialysis ; Renal Osteodystrophy ; Sclerosis

A 44-year-old male presented with 7 months history of nonpruritic round oozing plaques on the extremities and red papules on the trunk. The lesions were resistant to topical and oral steroid prescribed at the other local clinics. Histopathological examination showed parakeratosis with acanthosis and rete ridge elongation as well as spongiotic intraepidermal blisters and dense dermal infiltration of small to medium sized atypical lymphoid cells. Immunohistochemical analysis revealed the lymphocyte infiltrate to be predominantly CD4 + T cells, with CD4/CD8 ratio to be greater than 10:1. Infiltration of large cells that were CD30 + were also noted. This histopathologic findings are consistent with vesicular mycosis fungoides (MF). He was prescribed with narrow-band ultraviolet B twice per week and topical steroid, combined with interferon-α injection for 5 weeks, and his skin lesions significantly faded and were flattened. Vesicular MF is associated with poor prognosis, but our patient was able to show benign course of disease thanks to timely diagnosis. One must consider vesicular MF as a differential for recalcitrant eczematous lesions.

PURPOSE: To investigate the association between corneal biomechanical properties and initial visual field defect pattern in normal tension glaucoma using an Ocular Response Analyzer (ORA; Reichert Instruments, Depew, NY, USA). METHODS: Forty-one patients with normal tension glaucoma were divided into 2 subgroups, 21 patients with initial paracentral scotomas and 20 patients with initial peripheral scotomas. The corneal biomechanical properties of corneal hysteresis (CH), corneal resistance factor (CRF), Goldmann-correlated intraocular pressure (IOPg), corneal-compensated IOP (IOPcc) measured by the ORA, central corneal thickness, and Goldmann applanation tonometry were comparatively analyzed between the 2 groups. RESULTS: The patients with initial peripheral scotomas were significantly younger than those with initial paracentral scotomas (49.45 ± 13.33 years vs. 58.14 ± 12.49 years, p = 0.035) and showed more myopia (− 2.42 ± 2.22 diopter vs. − 0.89 ± 2.22 diopter, p = 0.034). The mean CRF was significantly lower in the initial paracentral scotoma group than in the initial peripheral scotoma group. (9.45 ± 1.95 mmHg vs. 10.58 ± 2.05 mmHg; p = 0.041). No significant difference in CH, IOPg, or IOPcc was seen between the groups. CONCLUSIONS: CRF was significantly different between the initial paracentral scotoma group and initial peripheral scotoma group in normal tension glaucoma. Thus, CRF may be useful to predict initial central field loss in normal tension glaucoma.
Humans ; Intraocular Pressure ; Low Tension Glaucoma* ; Manometry ; Myopia ; Scotoma ; Visual Fields*

A factor VII gene -401 G/A polymorphism was identified in a patient with a pulmonary embolism. The patient was a 71-year-old woman who presented with acute-onset dyspnea. A chest CT scan revealed a pulmonary embolism. Despite the administration of low-dose warfarin as anticoagulation therapy, there was an excessively prolonged prothrombin time (PT). The blood tests revealed lower factor VII activity than normal. Full factor VII gene sequencing revealed a G to A substitution at ?401 in the promoter region. There were no other gene sequence anomalies. PCR-based analysis indicated lower factor VII gene expression in the patient than in a control subject. The data suggested the promoter polymorphism to be responsible for the lower transcription level. In conclusion, we encountered a case of Factor VII DNA polymorphism in a patient with a pulmonary embolism showing significantly reduced Factor VII activity.
Aged ; DNA ; Dyspnea ; Factor VII ; Female ; Gene Expression ; Hematologic Tests ; Humans ; Polymorphism, Genetic ; Promoter Regions, Genetic ; Prothrombin Time ; Pulmonary Embolism ; Thorax ; Warfarin