A Case of Orbital Infarction Syndrome in a Patient with Hemophagocytic Lymphohistiocytosis

Purpose@#To report a case of orbital infarction syndrome in a patient with hemophagocytic lymphohistiocytosis (HLH).Case summary: A 70-year-old woman with diabetes mellitus and hypertension was referred to the Department of Ophthalmology for sudden-onset left upper eyelid ptosis after being diagnosed with HLH. After 3 days, the best corrected visual acuity in the right eye was 0.8, while there was no light perception in the left eye. In the left eye, the ocular motility examination showed limitations in all fields of gaze. On fundus examination, optic disc pallor, retinal hemorrhage, and narrowed retinal arteries were observed in the left eye. Fluorescein angiography showed no blood flow in the retinal arteries and veins in the left eye. On neck computed tomography angiography, the left distal internal carotid artery was narrowed. Orbit computed tomography showed exophthalmos and extraocular muscle hypertrophy in the left eye. Orbit magnetic resonance imaging confirmed optic nerve edema, enhancement of the optic nerve sheath, and high signal intensity of the intraocular fat in the left eye. Slit-lamp examination revealed ischemia of the anterior segment and ischemic necrosis of the eyelid in the left eye. The patient was diagnosed with orbital infarction syndrome. @*Conclusions@#Several factors may lead to ischemia of the orbital tissues in patients with HLH, including coagulopathy, an increased incidence of blood clots, and inflammation in the orbit. It is necessary to consider the possibility of orbital infarction syndrome when HLH patients present with visual loss, ocular movement limitations, and anterior segment ischemia.

Hyperviscosity Syndrome-related Retinopathy in a Patient with Waldenström Macroglobulinemia

Purpose@#We report a case of retinopathy related to bilateral hyperviscosity syndrome in a patient with Waldenström macroglobulinemia.Case summary: A 77-year-old male presented with reduced visual acuities of both eyes 2 months in duration. Fundus examination revealed extensive flame-shaped retinal hemorrhages and venous congestion. Optical coherence tomography (OCT) evidenced macular edema and OCT angiography (OCTA) indicated damage to the superficial and deep capillary plexi of retina and choriocapillaris and dilated large choroidal vessels. We diagnosed central retinal vein occlusion with macular edema and prescribed intravitreal bevacizumab and posterior subtenon triamcinolone injections, however, the edema did not improve. As retinopathy associated with hematological disease was thus suspected, we referred the patient to our department of hematology and oncology for further assessment. He was diagnosed with Waldenström macroglobulinemia. After initiation of chemotherapy, the retinal hemorrhage in and macular edema of both eyes decreased. After six chemotherapy cycles, the retinal hemorrhages resolved and the macular edema improved in both eyes. OCTA revealed that the choroidal vessel dilation also improved. @*Conclusions@#In elderly patients presenting with central retinal vein occlusions and macular edema of both eyes, it is important to assess whether the retinopathy is associated with a hyperviscosity syndrome linked to a hematological disease.

Comparison of Intraocular Pressure Measurements Obtained Using Three Tonometers after Descemet Membrane Stripping Endothelial Keratoplasty

Purpose@#To compare the level of agreement between the Goldmann applanation tonometer (GAT), iCare IC200 rebound tonometer (IRT), and noncontact tonometer (NCT) in patients who underwent Descemet membrane stripping endothelial keratoplasty (DSEK), and to identify factors contributing to variations in intraocular pressure (IOP) measurements among the three tonometers. @*Methods@#We retrospectively analyzed the medical records of 41 patients who underwent DSEK. IOP was measured using NCT, IRT, and GAT, in this order. We evaluated the level of agreement among IOP measurements using the three tonometers, and analyzed whether clinical factors affected the results. @*Results@#We analyzed 49 eyes of 41 patients (average age: 62.0 years). The IOP values measured by IRT and NCT were lower than those measured by GAT, although the difference was not significant (p = 0.098 and p = 0.320, respectively). A Bland-Altman plot showed greater agreement between IOP measurements obtained by IRT and GAT than those obtained by NCT and GAT. In multivariate regression analysis, the IOP measured by GAT (β = 0.215, p = 0.022), corneal curvature (β = -1.692, p = 0.037), and postoperative duration (β = 0.042, p = 0.018) affected the difference in IOPs measured by GAT and IRT. The IOP measured by GAT (β = 0.301, p = 0.013) and corneal curvature (β = -2.670, p = 0.010) affected the difference in IOP measurements obtained by GAT and NCT. @*Conclusions@#In DSEK eyes, IRT showed good agreement and high correlation with GAT, suggesting that it is useful for IOP measurement. However, the IOP measured by GAT, corneal curvature, and postoperative duration should be considered when measuring IOP with an IRT.

Exogenous Fungal Endophthalmitis by Exophiala xenobiotica Infection after Cataract Surgery

Purpose@#To report a case of fungal endophthalmitis secondary to Exophiala xenobiotica after cataract surgery.Case summary: A 79-year-old male presented with decreased visual acuity in the left eye 8 months after cataract surgery. He was diagnosed with uveitis and received subtenon triamcinolone injection, which has a temporary effect. Three months after the injection, his visual acuity had decreased, such that best-corrected visual acuity (BCVA) of the left eye was hand motion. Anterior chamber cells with hypopyon and severe vitritis with vitreous haze were observed in the left eye. We considered the possibility of endophthalmitis after cataract surgery, and repetitive anterior chamber irrigation with culture was conducted to identify pathogens. Systemic and intravitreal antifungal agents were injected after the isolation of Exophiala xenobiotica. However, there was no improvement of the endophthalmitis, and he underwent pars plana vitrectomy. Although inflammatory symptoms disappeared after surgery, black lesions in the corneal incision site were identified 3 months postoperatively. Ultimately, surgical debridement and anterior chamber injections of antifungal agents were performed for recurring endophthalmitis. After the surgery, there was no inflammation of the anterior chamber or vitreous cavity. The BCVA of the left eye improved to 0.5. @*Conclusions@#Ophthalmologists should consider the possibility of fungal endophthalmitis in patients who suffer from uveitis-like symptoms after cataract surgery.

Two Cases of Tacrolimus-related Transplant-associated Thrombotic Microangiopathy Retinopathy after Allogenic Peripheral Blood Stem Cell Transplantation

Purpose@#We report two cases of tacrolimus-related transplant-associated thrombotic microangiopathy (TA-TMA) retinopathy in leukemia patients who had undergone allogenic peripheral blood stem cell transplantation (PBSCT).Case summary: (Case 1) A 58-year-old woman with a history of PBSCT due to acute myelocytic leukemia and taking tacrolimus was referred to the ophthalmology clinic with visual disturbance. Her visual acuity (VA) was 0.4 in the right eye and 0.5 in the left eye. Multiple cotton wool spots and retinal hemorrhages were found in both eyes on fundus examination. Multiple capillary non-perfusions were seen on fluorescein angiography (FA). Tacrolimus-related TA-TMA retinopathy was suspected. Tacrolimus was discontinued and plasmapheresis was performed. After 3 months, neovascular glaucoma developed and her VA became “counting fingers” at 20 cm in both eyes. (Case 2) A 20-year-old man with a history of PBSCT due to acute lymphocytic leukemia and taking tacrolimus was referred to our clinic because of decreased VA in both eyes. His VA was 0.05 in the right eye and 0.025 in the left eye. Fundus and FA findings were the same as in Case 1, and the patient was suspected to have tacrolimus-related TA-TMA retinopathy. Tacrolimus was discontinued and plasmapheresis was performed. His VA was 0.2 in the right eye and 0.4 in the left eye at 1 month after treatment. @*Conclusions@#It is necessary to consider TA-TMA retinopathy in leukemia patients taking calcineurin inhibitors, such as tacrolimus, who have decreased VA. Early diagnosis and treatment are important.

Parosteal Lipoma Associated with a Growing Osteochondroma of the Right Ilium

Parosteal lipoma is a rare type of lipoma, the incidence being approximately 0.3% of all lipomas. Moreover, parosteal lipoma coexisting with osteochondroma is extremely rare. A few cases with coexistence of osteochondroma and parosteal lipoma have been reported and they were thought to be reactive changes of adjacent bone by parosteal lipoma. However, temporal relationship of these tumors could not be explained. Here, we report a case of parosteal lipoma associated with osteochondroma of the right ilium developed over 6 years, with follow-up radiographs.

Changes in Iridocorneal Angle Configuration and Intraocular Pressure during Smartphone Use under Room Light

Purpose@#To investigate changes in intraocular pressure (IOP) and iridocorneal angle (ICA) configuration during smartphone use under room light. @*Methods@#We included healthy adults aged 19-35 years with no ophthalmological abnormalities. All read text on a smartphone for 6 minutes under room light. IOP was measured via rebound tonometry at baseline and at 2, 4, and 6 minutes. ICA images were obtained via anterior segment optical coherence tomography after each IOP measurement. After 6 minutes, participants stopped reading text and rested for 2 minutes. IOP was then measured again. @*Results@#The IOP significantly increased at 2, 4, and 6 minutes of reading compared to baseline (p < 0.001) but recovered to baseline after 2 minutes of rest (p = 1.000). The anterior chamber depth decreased significantly, and the anterior chamber angle width increased after 6 minutes of smartphone reading (both p < 0.05). @*Conclusions@#IOP increased when reading smartphone text under room light but the ICA did not change. Prolonged smartphone reading is inappropriate for a patient at risk of glaucoma or glaucoma progression. Such patients should be cautioned.

Parosteal Lipoma Associated with a Growing Osteochondroma of the Right Ilium

Parosteal lipoma is a rare type of lipoma, the incidence being approximately 0.3% of all lipomas. Moreover, parosteal lipoma coexisting with osteochondroma is extremely rare. A few cases with coexistence of osteochondroma and parosteal lipoma have been reported and they were thought to be reactive changes of adjacent bone by parosteal lipoma. However, temporal relationship of these tumors could not be explained. Here, we report a case of parosteal lipoma associated with osteochondroma of the right ilium developed over 6 years, with follow-up radiographs.

Changes in Iridocorneal Angle Configuration and Intraocular Pressure during Smartphone Use under Room Light

Purpose@#To investigate changes in intraocular pressure (IOP) and iridocorneal angle (ICA) configuration during smartphone use under room light. @*Methods@#We included healthy adults aged 19-35 years with no ophthalmological abnormalities. All read text on a smartphone for 6 minutes under room light. IOP was measured via rebound tonometry at baseline and at 2, 4, and 6 minutes. ICA images were obtained via anterior segment optical coherence tomography after each IOP measurement. After 6 minutes, participants stopped reading text and rested for 2 minutes. IOP was then measured again. @*Results@#The IOP significantly increased at 2, 4, and 6 minutes of reading compared to baseline (p < 0.001) but recovered to baseline after 2 minutes of rest (p = 1.000). The anterior chamber depth decreased significantly, and the anterior chamber angle width increased after 6 minutes of smartphone reading (both p < 0.05). @*Conclusions@#IOP increased when reading smartphone text under room light but the ICA did not change. Prolonged smartphone reading is inappropriate for a patient at risk of glaucoma or glaucoma progression. Such patients should be cautioned.

Short-term Changes in Ocular Surface pH after 23-gauge Microincision Vitrectomy Surgery

Purpose@#This study aimed to investigate changes in ocular surface pH after 23-gauge microincision vitrectomy surgery. @*Methods@#This retrospective study included 42 patients who underwent 23-gauge microincision vitrectomy. Best-corrected visual acuity and intraocular pressure were measured. Fundus examination, color fundus photography, and spectral-domain optical coherence tomography were performed. Chemosis was evaluated once a day after surgery, and the ocular surface pH was measured using a microelectrode on the day before surgery and every day up to day 5 after surgery. @*Results@#A total of 42 eyes in 42 patients were examined. The average age was 63.7 years. The indications for surgery included epiretinal membrane in 14 eyes (33.3%), vitreous hemorrhage in 11 eyes (26.2%), macular hole in 11 eyes (26.2%), and rhegmatogenous retinal detachment in six eyes (14.3%). Although the mean ocular surface pH increased from 7.12 ± 0.04 to 7.55 ± 0.04 on the first day after surgery (p < 0.001), it gradually decreased to 7.41 ± 0.03 from the second day postoperatively (p < 0.001). It was subsequently measured as 7.33 ± 0.04 on the third day (p < 0.001) and 7.23 ± 0.03 on the fourth day (p < 0.001) postoperatively. On the fifth postoperative day, the ocular surface pH further decreased to 7.15 ± 0.03 (p = 0.152) and recovered to the preoperative state. A statistically significant correlation was found between the change in ocular surface pH and the chemosis grade (p = 0.001). @*Conclusions@#After 23-gauge microincision vitrectomy surgery, the ocular surface pH shifted temporarily in the alkaline direction within a physiological range correlated with chemosis and intravitreal tamponade usage.

Choroidal Neovascularization in a Patient with Best Disease

PURPOSE: To report a case of choroidal neovascularization in a Best disease patient treated with intravitreal bevacizumab injection and followed up with optical coherence tomography angiography (OCTA). CASE SUMMARY: A 20-year-old female visited our clinic with decreased visual acuity of the left eye for 6 months. On optical coherence tomography (OCT), subretinal fluid and hyperreflective subretinal clumps were observed in the macula of the right eye. Subretinal hemorrhage and subretinal fluid were observed in the left eye. Choroidal neovascularization in the left eye was observed using OCTA, fluorescein angiography, and indocyanine green angiography. A full-field electroretinogram was normal in both eyes, but an electrooculogram revealed that the Arden ratio was 1.564 in the right eye and 1.081 in the left eye. Intravitreal bevacizumab injection was performed in the left eye. At 6 months after the intravitreal injection, the best-corrected visual acuity of the left eye had recovered to 20/20. OCT revealed that subretinal fluid reduced and choroidal neovascularization was stable. After 12 months, visual acuity of the left eye was maintained at 20/20, but OCTA revealed that choroidal neovascularization had increased. CONCLUSIONS: Choroidal neovascularization associated with Best disease can improve by intravitreal bevacizumab injection, and the changes in choroidal neovascularization can be followed using OCTA.

Anterior Uveitis Caused by Listeria Monocytogenes Infection

PURPOSE: To report a case of anterior uveitis secondary to Listeria monocytogenes infection. CASE SUMMARY: A 57-year-old male presented to our clinic with ocular pain and decreased vision in the right eye for 2 days. The patient had a history of liver transplantation 2 years prior and used immunosuppressive agents. Listeria monocytogenes was identified in blood cultures 1 month before his visit. At presentation, best-corrected visual acuity (BCVA) of the right eye was counting fingers at 20 cm and the intraocular pressure (IOP) was 50 mmHg. Conjunctival hyperemia, corneal edema, keratic precipitates, and cells in the anterior chamber were observed in the right eye. The patient was diagnosed as anterior uveitis in the right eye. Conventional uveitis treatment was initiated but clinical features did not improve and black hypopyon appeared. The possibility of anterior uveitis caused by Listeria monocytogenes infection was considered. An anterior chamber tap and culture were conducted to identify pathogens. Anterior chamber antibiotic injections and systemic antibiotic injections were performed. One week after injection, the BCVA of the right eye improved to 0.4 and the IOP decreased to 14 mmHg. One month after injection, the BCVA of the right eye improved to 1.0 and the IOP decreased to 16 mmHg. No inflammation of the anterior chamber was observed. CONCLUSIONS: When nonspecific uveitis occurs in immunosuppressed patients, cultures and appropriate antibiotics should be considered because of the possibility of infection.

The Role of Beta-Tricalcium Phosphate-Hydrogel Scaffold and Mesenchymal Stem Cells on Neogenic Bone Formation / 대한정형외과학회잡지

PURPOSE: The purpose of this paper was to determine the ability of a mixture consisting of mesenchymal stem cells, beta-tricalcium phosphate β-TCP), and hydrogel, to support cells and form new tissue. MATERIALS AND METHODS: A composite was produced by adding β-TCP to hydrogel, and mesenchymal stem cells were cultivated in the composite. Then, reverse transcription polymerase chain reaction (RT-PCR) was conducted to measure the level of gene expression for the new bone formation in the cells. Moreover, a composite in which the mesenchymal stem cells were added was injected into the subcutaneous fat of sprague-dawley rats. After four weeks, H&E, Masson trichrome, silver nitrate staining, and osterix immunohistochemical staining were conducted by taking the tissue to evaluate whether the composite supported mesenchymal stem cells and formed new tissue. RESULTS: By using RT-PCR, we found that the level of gene expression became significantly higher in 3-dimensional gel culture with RUNX2 by 1.26 times, with osteopontin by 1.23 times, transforming growth factor-β by 2.12 times, osterix by 1.07 times, type I collagen by 1.3 times, and fibronectin by 1.3 times. In the animal experiment in which a composite was transplanted into the subcutaneous fat, newly formed tissue was observed. Also, it was found that the composite prevented mesenchymal stem cells from leaving and formed new tissue. Osteogenic differentiation cells in the tissue was observed through osterix immunostaining. CONCLUSION: It was identified that the composite prevented mesenchymal stem cells dispersal and contributed to the formation of neogenic tissue. Therefore we conclude that the composite plays a role of a scaffold to support the implanted cells and form neogenic tissue more effectively.

Origin of Satellite Ganglion Cysts with Effusion in the Flexor Hallucis Longus Tendon Sheath around the Hallux

BACKGROUND: To describe the clinical and magnetic resonance imaging findings of ganglion cysts with effusion in the flexor hallucis longus tendon sheath around the hallux to evaluate their origin. METHODS: Patients with recurrent or painful ganglion cysts around the hallux with effusion in the flexor hallucis longus tendon sheath who underwent surgical treatment at St. Vincent's Hospital from February 2007 to August 2016 were investigated. Surgical indication was a painful or recurrent mass caused by the cystic lesions. Those without effusion of the flexor hallucis longus tendon sheath were excluded. We assessed the clinical and magnetic resonance imaging findings. RESULTS: Magnetic resonance imaging findings in all patients showed several ganglion cysts around the hallux and large fluid accumulations within the flexor hallucis longus tendon sheath. Regarding the location, six ganglion cysts were on the dorsomedial aspect, one on the plantar medial aspect, seven on the plantar lateral aspect, and one in the toe pulp. Ten patients showed joint effusions in both the metatarsophalangeal and interphalangeal joints, two in the metatarsophalangeal joints, and three in the interphalangeal joints. There were communication stalks with a tail shape or abutment between ganglion cysts with surrounding joint effusions. Intraoperatively, connections between ganglion cysts, the synovial cyst of the flexor hallucis longus tendon sheath, and surrounding joints were seen. CONCLUSIONS: Synovial fluid accumulation in the metatarsophalangeal or interphalangeal joint supplies the synovial cyst of the flexor hallucis longus tendon sheath and subsequently ganglion cysts in the hallux. In clinical practice, the surgeon should carefully check surrounding joints with tendon sheaths to prevent recurrence of the ganglion cysts around the hallux.

Toxic Optic Neuropathy Caused by Chlorfenapyr Poisoning

PURPOSE: To report a case of toxic optic neuropathy caused by chlorfenapyr ingestion accompanied by central nervous system involvement. CASE SUMMARY: A 44-year-old female visited our clinic complaining of reduced visual acuity in both eyes for 7 days. She had ingested a mouthful of chlorfenapyr for a suicide attempt 2 weeks prior to the visit. Gastric lavage was performed immediately after ingestion at the other hospital. Her best-corrected visual acuity was finger count 30 cm in the right eye and hand motion in the left eye. Both pupils were dilated by 5.0 mm and the response to light was sluggish in both eyes. A relative afferent pupillary defect was detected in her left eye. Funduscopy revealed optic disc swelling in both eyes. Magnetic resonance imaging of the brain showed a symmetric hyper-intense signal in the white matter tract including the internal capsule, corpus callosum, middle cerebellar peduncle, and brainstem. The patient was diagnosed with toxic optic neuropathy induced by chlorfenapyr ingestion, and underwent high-dose intravenous corticosteroid pulse therapy. Three days later, the best-corrected visual acuity was no light perception in both eyes. Three months later, optic atrophy was observed in both eyes. Optical coherence tomography revealed a reduction in the thicknesses of the retinal nerve fiber layer and ganglion cell and inner plexiform layer in the macular area. CONCLUSIONS: Ingestion of even a small amount of chlorfenapyr can cause severe optic nerve damage through the latent period, despite prompt lavage and high-dose steroid treatment.

Short-term Analysis of the Residual Volume of an Eye Drop Following 23-Gauge Microincision Vitrectomy Surgery

PURPOSE: To evaluate the change of residual volume of eye drop after instillation in patients with 23-gauge microincision vitrectomy surgery (MIVS). METHODS: Patient who were treated 23-gauge MIVS from November 2014 to July 2015 were included. The residual volume was defined as the amount of remnant eye drop in patient's eyes after instillation, calculated as the difference between instillation volume and spilled volume of eye drop. Calculation of residual volume of eye drop was performed one day before surgery, and daily from postoperative day 1 to day 5. RESULTS: Forty consecutive patients were included. The residual volume of eye drop decreased from 30.3 ± 1.4 µL at baseline to 13.0 ± 1.5 µL at day 1, 18.3 ± 1.6 µL at day 2, 24.7 ± 1.5 µL at day 3, and 27.9 ± 1.4 µL in day 4, postoperatively (p < 0.001, respectively). The volume at postoperative day 5 was 29.4 ± 1.3 µL, but it was not different from the volume at baseline (p = 0.105). The change of residual volume was significantly correlated with postoperative chemosis (r = 0.672, p < 0.001) and effected by the number of quadrant with postoperative chemosis (p < 0.05). CONCLUSIONS: This study shows that postoperative residual volume of eye drop after instillation decreased until postoperative day 4, and postoperative chemosis affects the change of residual volume. Thus, checking proper use of eye drops and teaching about instillation technique by physician is necessary for patients with 23-gauge MIVS.

An Intraosseous Schwannoma Combined with a Subchondral Fracture of the Femoral Head: a Case Report and Literature Review

Schwannomas are benign nerve sheath tumors that are typically located in soft tissue. Occasionally, schwannomas involve osseous structures. These intraosseous schwannomas are generally benign neoplasms that account for less than 0.2% of primary bone tumors. Schwannomas are very rarely observed in long bones. We present a case of a schwannoma affecting the proximal femur with a coincident subchondral fracture of the femoral head. A 38-year-old-male presented with left hip pain without deteriorating locomotor function. Plain film radiographs displayed a lobulating contoured lesion within the intertrochanteric portion of the femur. The magnetic resonance imaging (MRI) scans showed a tumor occupying the intertrochanteric region. Diffuse bone marrow edema, especially in the subchondral and head portions of the femur that was possibly due to the subchondral insufficiency fracture was also noted. The lesion was surgically excised and bone grafting was performed. Histologically, there was diffuse infiltrative growth of the elongated, wavy, and tapered cells with collagen fibers, which are findings that are characteristic of intraosseous schwannoma. Although very rare, intraosseous schwannoma should be included in the differential diagnosis of radiographically benign-appearing, non-aggressive lesions arising in the femur. The concomitant subchondral fracture of the femoral head confounded the correct diagnosis of intraosseous schwannoma in this case.

A Case of Endothelial Keratitis Associated with Immunosuppressant in Kaposi's Varicelliform Eruption

PURPOSE: To report a case of endothelial keratitis occurred after reactivation of herpes simplex virus following immunosuppressant therapy for Kaposi's varicelliform eruption. CASE SUMMARY: A 23-year-old female was referred for ocular pain and blurred vision. She had atopic dermatitis and was diagnosed with Kaposi's varicelliform eruption on her face after using an immunosuppressant. Slit lamp examination revealed central corneal edema in the right eye. She was initially diagnosed with contact lens-induced keratitis. Subsequently, the contact lens was removed and topical antiviral agent used for prevention of ocular involvement. Four days after treatment, Wesseley immune ring of deep stromal haze and cells in the anterior chamber were present. She was diagnosed with endothelial keratitis caused by reactivation of herpes simplex virus after using an immunosuppressant. Topical steroid, hypertonic saline eye drops and cycloplegic eye drops were added to the treatment for the progression of endothelial keratitis. Corneal edema was decreased 2 weeks after treatment and anterior chamber cells decreased 1 month after treatment. There was no recurrence during the follow-up period. CONCLUSIONS: Patients diagnosed with Kaposi's varicelliform eruption after using immunosuppressants should have an ophthalmic examination to confirm ocular involvement; use of appropriate eye drops is necessary for the treatment of corneal involvement.

Amyloid Arthropathy of the Hip Joint Associated with Multiple Myeloma: A Case Report / 대한고관절학회지

Amyloidosis is a disease characterized by the deposition of non-soluble fibrous protein in multiple tissues with a number of possible causes. This protein deposition can occur in any tissue, yet is most commonly seen in kidneys, heart, and gastrointestinal tracts. However, invasion to bone tissues is not often reported. The deposition of amyloid proteins in bone tissues may result in joint pain and pathological fractures; it is important to elucidate the causes and detect early to determine prognosis and treat optimally. In the present case report, with relevant literature review, the authors report a case of total hip arthroplasty in an amyloidosis patient.

IDH Mutation Analysis in Ewing Sarcoma Family Tumors

BACKGROUND: Isocitrate dehydrogenase (IDH) catalyzes the oxidative decarboxylation of isocitrate to yield alpha-ketoglutarate (alpha-KG) with production of reduced nicotinamide adenine dinucleotide (NADH). Dysfunctional IDH leads to reduced production of alpha-KG and NADH and increased production of 2-hydroxyglutarate, an oncometabolite. This results in increased oxidative damage and stabilization of hypoxia-inducible factor alpha, causing cells to be prone to tumorigenesis. METHODS: This study investigated IDH mutations in 61 Ewing sarcoma family tumors (ESFTs), using a pentose nucleic acid clamping method and direct sequencing. RESULTS: We identified four cases of ESFTs harboring IDH mutations. The number of IDH1 and IDH2 mutations was equal and the subtype of IDH mutations was variable. Clinicopathologic analysis according to IDH mutation status did not reveal significant results. CONCLUSIONS: This study is the first to report IDH mutations in ESFTs. The results indicate that ESFTs can harbor IDH mutations in previously known hot-spot regions, although their incidence is rare. Further validation with a larger case-based study would establish more reliable and significant data on prevalence rate and the biological significance of IDH mutations in ESFTs.