Purpose: In this study, subjects with femoral anterior glide type were examined to investigate the effects of femoral head anterior glide fixation during active straight leg raise on the strength of the hip flexor in a supine position. Methods: Fifteen subjects participated in this study. All subjects were classified through an evaluation form for femoral anterior glide type (FAGT). The strength of the hip flexor was measured during active straight leg raise test (ASLR test), and compared with and without femoral anterior glide fixation in a supine position. The fixation of the femoral head was achieved as per the therapist’s manual guidelines. Paired t-test was applied to compare changes in the strength of the hip flexor according to fixation conditions. The level of statistical significance was set at α= 0.05. Results: The strength of the hip flexor was lesser during the ASLR test with fixation compared to without fixation (p= 0.007). Conclusion The strength of the hip flexor decreases with fixation. Results of this study revealed a difference between hip flexor strength, with and without femoral anterior glide fixation during ASLR, in subjects with femoral anterior glide type.

Background: Gaucher disease (GD) is an autosomal recessive disorder characterized by excessive accumulation of glucosylceramide in multiple organs. This study was performed to determine the detection rate of GD in a selected patient population with unexplained splenomegaly in Korea. Methods: This was a multicenter, observational study conducted at 18 sites in Korea between December 2016 and February 2020. Adult patients with unexplained splenomegaly were enrolled and tested for β-glucosidase enzyme activity on dried blood spots (DBS) and in peripheral blood leukocytes. Mutation analysis was performed if the test was positive or indeterminate for the enzyme assay. The primary endpoint was the percentage of patients with GD in patients with unexplained splenomegaly. Results: A total of 352 patients were enrolled in this study (male patients, 199; mean age, 48.42 yr). Amongst them, 14.77% of patients had concomitant hepatomegaly. The most common sign related to GD was splenomegaly (100%), followed by thrombocytopenia (44.32%) and, anemia (40.91%). The β-glucosidase activity assay on DBS and peripheral leukocytes showed abnormal results in sixteen and six patients, respectively. Eight patients were tested for the mutation, seven of whom were negative and one patient showed a positive mutation analysis result. One female patient who presented with splenomegaly and thrombocytopenia was diagnosed with type 1 GD. The detection rate of GD was 0.2841% (exact 95% CI, 0.0072‒). Conclusion The detection rate of GD in probable high-risk patients in Korea was lower than expected.However, the role of hemato-oncologists is still important in the diagnosis of GD.

The Carney complex (CNC) is an autosomal dominant disorder characterized by endocrine and nonendocrine tumors. Loss-of-function variants of protein kinase A regulatory subunit 1 alpha (PRKAR1A) are common causes of CNC. Here, we present the case of a patient with CNC with a novel PRKAR1A missense variant. A 21-year-old woman was diagnosed with CNC secondary to acromegaly and adrenal Cushing syndrome. Genetic analysis revealed a novel missense heterozygous variant of PRKAR1A (c.176A>T). Her relatives, suspected of having CNC, also carried the same variant. RNA analysis revealed that this variant led to nonsense-mediated mRNA decay. In vitro functional analysis of the variant confirmed its role in increasing protein kinase A activity and cyclic adenosine monophosphate levels. This study broadens our understanding of the genetic spectrum of CNC. We suggest that PRKAR1A genetic testing and counseling be recommended for patients with CNC and their families.

PURPOSE: To compare changes in anterior segment parameters after Nd:YAG laser capsulotomy in eyes that underwent either combined phacovitrectomy or cataract surgery. METHODS: This retrospective study enrolled 37 eyes of 35 patients with posterior capsular opacification treated with combined phacovitrectomy (group A), and 35 eyes of 32 patients with posterior capsular opacification treated with cataract surgery (group B). Anterior segment parameters, including anterior chamber depth (ACD), anterior chamber angle, and anterior chamber volume, were measured by a Pentacam before Nd:YAG laser capsulotomy and 1 hour, 1 day, 1 week, 1 month, and 3 months after this treatment. RESULTS: In the cataract surgery group, the ACD was significantly lower 1 day (3.75 ± 0.74 mm), 1 week (3.73 ± 0.24 mm), and 3 months (3.74 ± 0.33 mm) after Nd:YAG laser capsulotomy compared with the pretreatment value (4.20 ± 0.62 mm, p = 0.002). By contrast, the ACD did not change significantly over time in the combined phacovitrectomy group. The ACD differed significantly between the two groups at 1 week, 1 month, and 3 months after capsulotomy. There were no significant changes in the anterior chamber volume, anterior chamber angle, central corneal thickness, or pupil size from before to after capsulotomy in either group. A non-significant trend toward myopic shift was observed in group A (p = 0.072) and B (p = 0.055). CONCLUSIONS: The results of the present study may help determine the power of the intraocular lens in patients who underwent combined surgery or cataract surgery and who will receive Nd:YAG laser capsulotomy.
Anterior Chamber ; Cataract ; Humans ; Lenses, Intraocular ; Pupil ; Retrospective Studies

PURPOSE: To report the first case of cystoid macular edema in a retinitis pigmentosa patient with pars plana vitrectomy. CASE SUMMARY: A 43-year-old female visited our hospital with visual disturbances of both eyes. Corrected visual acuity was 20/22 in the right eye and 20/25 in the left eye. Peripheral depigmentation and atrophy of the retinal pigment epithelium, pigmentary retinal degeneration, and attenuated arterioles were observed in both eyes. Cystoid macular edema was observed on optical coherence tomography which showed that the central macular thickness was 308 µm in the right eye and 422 µm in left eye. Intravitreal aflibercept was injected into the left eye. One month after injection, the central macular thickness showed no response with a thickness of 449 µm. An intravitreal dexamethasone implant was then injected, 1 month after injection, the central macular thickness was 367 µm. Six months after injection, the patient again complained of visual disturbance of the left eye with a corrected visual acuity of 20/70. Vitreous opacity was observed and the central macular thickness was 501 µm. The patient underwent pars plana vitrectomy. Three days after surgery, the central macular thickness was 320 µm. One year after surgery, the corrected visual acuity was 20/33 and the central macular thickness was 311 µm. CONCLUSIONS: Pars plana vitrectomy due to cystoid macular edema in a retinitis pigmentosa patient has not been previously reported in the Republic of Korea. Pars plana vitrectomy can therefore be an effective treatment for cystoid macular edema in retinitis pigmentosa patients.
Adult ; Arterioles ; Atrophy ; Dexamethasone ; Female ; Humans ; Macular Edema ; Republic of Korea ; Retinal Degeneration ; Retinal Pigment Epithelium ; Retinitis Pigmentosa ; Retinitis ; Tomography, Optical Coherence ; Visual Acuity ; Vitrectomy