Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase (α-Gal A), affecting multiple organs including kidney. In this study, we aimed to determine the prevalence of FD in patients with chronic kidney disease (CKD) including those on renal replacement therapy in Korea. Methods: This is a national, multicenter, observational study performed between August 24, 2017 and February 28, 2020. Patients with the presence of proteinuria or treated on dialysis were screened by measuring the α-Gal A enzyme activity using either dried blood spot or whole blood, and plasma globotriaosylsphingosine (lyso-GL3) concentration. A GLA gene analysis was performed in patients with low α-Gal A enzyme activity or increased plasma lyso-GL3 concentration. Results: Of 897 screened patients, 405 (45.2%) were male and 279 (31.1%) were on dialysis. The α-Gal A enzyme activity was measured in 891 patients (99.3%), and plasma lyso-GL3 concentration was measured in all patients. Ten patients were eligible for a GLA gene analysis: eight with low α-Gal A enzyme activity and two with increased plasma lyso-GL3 concentration. The GLA mutations were analyzed in nine patients and one patient was found with a pathogenic mutation. Therefore, one patient was identified with FD, giving a prevalence of 0.1% (1 of 897) in this CKD population. Conclusion: Although the prevalence of FD in the CKD population was low (0.1%), screening tests are crucial to detect potential diseases in patients with relatives who can benefit from early treatment.

Background: The optimal level of glycosylated hemoglobin (HbA1c) to prevent adverse clinical outcomes is unknown in patients with chronic kidney disease (CKD) and type 2 diabetes mellitus (T2DM). Methods: We analyzed 707 patients with CKD G1-G5 without kidney replacement therapy and T2DM from the KoreaN Cohort Study for Outcome in Patients With Chronic Kidney Disease (KNOW-CKD), a nationwide prospective cohort study. The main predictor was time-varying HbA1c level at each visit. The primary outcome was a composite of development of major adverse cardiovascular events (MACEs) or all-cause mortality. Secondary outcomes included the individual endpoint of MACEs, all-cause mortality, and CKD progression. CKD progression was defined as a ≥50% decline in the estimated glomerular filtration rate from baseline or the onset of end-stage kidney disease. Results: During a median follow-up of 4.8 years, the primary outcome occurred in 129 (18.2%) patients. In time-varying Cox model, the adjusted hazard ratios (aHRs) for the primary outcome were 1.59 (95% confidence interval [CI], 1.01 to 2.49) and 1.99 (95% CI, 1.24 to 3.19) for HbA1c levels of 7.0%–7.9% and ≥8.0%, respectively, compared with <7.0%. Additional analysis of baseline HbA1c levels yielded a similar graded association. In secondary outcome analyses, the aHRs for the corresponding HbA1c categories were 2.17 (95% CI, 1.20 to 3.95) and 2.26 (95% CI, 1.17 to 4.37) for MACE, and 1.36 (95% CI, 0.68 to 2.72) and 2.08 (95% CI, 1.06 to 4.05) for all-cause mortality. However, the risk of CKD progression did not differ between the three groups. Conclusion This study showed that higher HbA1c levels were associated with an increased risk of MACE and mortality in patients with CKD and T2DM.

Intramuscular hemangioma is a rare vascular benign proliferation that can occur within any muscle, particularly in the trunk and extremities. In the head and neck region, the masseter muscle is most commonly involved, followed by the periorbital and sternocleidomastoid muscles. Diagnosing intramuscular hemangioma is challenging because there are no characteristic symptoms; instead, magnetic resonance imaging is the best imaging modality to diagnose these lesions. Complete surgical resection is the treatment of choice, although the local recurrence rate is high. Herein, we report a rare case of intramuscular hemangioma located in the zygomaticus minor muscle, which is related to smiling and usually runs along the orbicularis oculi muscle. Distinguishing or separating these two muscles is challenging. However, based on the muscle vector of the midface and radiological findings, the two muscles were successfully separated. The zygomaticus minor was cut very slightly to approach to the lesion and the muscle fibers were split to excise it. A follow-up examination revealed no nerve damage or muscle dysfunction at 4 weeks postoperatively. This rare case may serve as a reference for managing intramuscular hemangioma in the head and neck region.

Intramuscular hemangioma is a rare vascular benign proliferation that can occur within any muscle, particularly in the trunk and extremities. In the head and neck region, the masseter muscle is most commonly involved, followed by the periorbital and sternocleidomastoid muscles. Diagnosing intramuscular hemangioma is challenging because there are no characteristic symptoms; instead, magnetic resonance imaging is the best imaging modality to diagnose these lesions. Complete surgical resection is the treatment of choice, although the local recurrence rate is high. Herein, we report a rare case of intramuscular hemangioma located in the zygomaticus minor muscle, which is related to smiling and usually runs along the orbicularis oculi muscle. Distinguishing or separating these two muscles is challenging. However, based on the muscle vector of the midface and radiological findings, the two muscles were successfully separated. The zygomaticus minor was cut very slightly to approach to the lesion and the muscle fibers were split to excise it. A follow-up examination revealed no nerve damage or muscle dysfunction at 4 weeks postoperatively. This rare case may serve as a reference for managing intramuscular hemangioma in the head and neck region.

Background: Higher statin intensity is associated with a lower risk of mortality in patients with cardiovascular disease. However, little is known about the relationship between statin intensity and chronic kidney disease (CKD) progression. Methods: We studied whether statin intensity affects kidney function decline in 1,073 patients from the Korean Cohort Study for Outcome in Patients With Chronic Kidney Disease. The participants were classified based on statin intensity as low, moderate, and high. The study endpoint was CKD progression (composite of doubling of serum creatinine, ≥ 50% decrease in estimated glomerular filtration rate [eGFR] from baseline, or end-stage renal disease). Results: The mean age was 56.0 ± 11.4 years, and 665 (62.0%) participants were male. The mean eGFR was 51.7 ± 26.7 mL/min/1.73 m2; there were no differences in baseline eGFR among statin intensity groups. During the median follow-up of 39.9 (25.4-61.6) months, 255 (23.8%) patients reached the study endpoint. In multivariable Cox model after adjustment of confounders, the hazard ratios (95% confidence interval) for adverse kidney outcome were 0.97 (0.72-1.30) and 1.15 (0.60-2.20) in moderate and high statin intensity groups, respectively, compared with the low intensity group. In addition, no significant association was observed in subgroups stratified by age, sex, eGFR, and atherosclerotic cardiovascular disease risk scores. Conclusion We did not observe any significant association between intensity of statin therapy and progression of CKD. Long-term kidney outcomes may not be affected by statin intensity.

The specialized structure of the upper eyelid ensures complete closure of the eye and eyeball sealing. An upper eyelid injury can cause various symptoms associated with eyeball trauma, not just scar formation or eyelid deformity. In this report, we describe a case of lagophthalmos observed after wound repair in a patient with a crushing injury caused by a grinder. Several surgical techniques are used to treat lagophthalmos or scar contracture. In most cases, a releasing procedure is performed after 6 months of initial repair. However, if the patient has severe symptoms that are not relieved by conservative care, early revision is inevitable. We describe a case of early lagophthalmos successfully resolved with pentagonal wedge resection, fat redistribution, and full-thickness skin grafting. After the revisional surgery, we observed that the patient regained the ability to completely close the injured eyelid, with restoration of function and favorable cosmetic outcomes. Pentagonal wedge resection to release a retracted structure, fat redistribution to prevent readhesion, and full-thickness skin grafting for enough amount of skin to regain upper eyelid function is useful for scar release and lagophthalmos following crushing injuries of the upper eyelid.

Congenital cystic lymphatic malformations on the extremities are very rare. The patient described in this case study presented with a cutaneous and pedicled macrocystic lymphatic malformation that was eliminated by electrocauterization. A 4-day-old female infant with a congenital cutaneous mass on the dorsal area of her left first metacarpophalangeal joint presented to an outpatient clinic. An electrocautery device was used to cut the pedicle gently with minimal bleeding to avoid mass rupture and to minimize morbidity. A simple wet dressing was applied for 1 week, and the wound subsequently healed completely. Cutaneous macrocystic lymphatic malformations are very rare, especially on the extremities, and no consensus exists on their treatment, which has not been previously described. This report presents this rare case, along with a review of the literature.
Ambulatory Care Facilities ; Bandages ; Consensus ; Electrocoagulation ; Extremities ; Female ; Hemorrhage ; Humans ; Infant ; Lymphatic Abnormalities ; Lymphocele ; Metacarpophalangeal Joint ; Rupture ; Skin Neoplasms ; Upper Extremity ; Wounds and Injuries

BACKGROUND: Some parts of a maxillary fracture—for example, the medial and posterior walls—may remain unreduced because they are unapproachable or hard to deal with. This study aimed to investigate the self-healing process of unreduced maxillary membranous parts of fractures through a longitudinal computed tomography (CT) analysis of cases of unilateral facial bone injuries involving the maxillary sinus walls.METHODS: Thirty-two patients who had undergone unilateral facial bone reduction surgery involving the maxillary sinus walls without reduction of the medial and posterior walls were analyzed in this retrospective chart review. Preoperative, immediate postoperative, and 3-month postoperative CT scans were analyzed. The maxillary sinus volume was calculated and improvements in bone continuity and alignment were evaluated.RESULTS: The volume of the traumatized maxillary sinuses increased after surgery, and expanded significantly by 3 months postoperatively (p< 0.05). The significant preoperative volume difference between the normal and traumatized sides (p= 0.024) resolved after surgery (p> 0.05), and this resolution was maintained at 3 months postoperatively (p > 0.05). The unreduced parts of the maxillary bone showed improved alignment and continuity (in 75.0% and 90.6% of cases, respectively), and improvements in bone alignment and bone continuity were found to be correlated using the Pearson chi-square test (p= 0.002).CONCLUSION: Maxillary wall remodeling through self-healing occurred concomitantly with an increase in sinus volume and simultaneous improvements in bone alignment and continuity. Midfacial surgeons should be aware of the natural course of unreduced fractured medial and posterior maxillary walls in complex maxillary fractures.
Facial Bones ; Fracture Healing ; Fractures, Bone ; Humans ; Maxilla ; Maxillary Fractures ; Maxillary Sinus ; Periosteum ; Retrospective Studies ; Surgeons ; Tomography, X-Ray Computed

BACKGROUND/AIMS: This study evaluated the clinical outcomes of balloon-occluded retrograde transvenous obliteration (BRTO) for the treatment of hemorrhage from gastric varices (GV) in Korean patients with liver cirrhosis (LC). METHODS: We retrospectively analyzed data from 183 LC patients who underwent BRTO for GV bleeding in 6 university-based hospitals between January 2001 and December 2010. RESULTS: Of the 183 enrolled patients, 49 patients had Child-Pugh (CP) class A LC, 105 had CP class B, and 30 had CP class C at the time of BRTO. BRTO was successfully performed in 177 patients (96.7%). Procedure-related complications (e.g., pulmonary thromboembolism and renal infarction) occurred in eight patients (4.4%). Among 151 patients who underwent follow-up examinations of GV, 79 patients (52.3%) achieved eradication of GV, and 110 patients (72.8%) exhibited marked shrinkage of the treated GV to grade 0 or I. Meanwhile, new-appearance or aggravation of esophageal varices (EV) occurred in 54 out of 136 patients who underwent follow-up endoscopy (41.2%). During the 36.0+/-29.2 months (mean+/-SD) of follow-up, 39 patients rebled (hemorrhage from GV in 7, EV in 18, nonvariceal origin in 4, and unknown in 10 patients). The estimated 3-year rebleeding-free rate was 74.8%, and multivariate analysis showed that CP class C was associated with rebleeding (odds ratio, 2.404; 95% confidence-interval, 1.013-5.704; P=0.047). CONCLUSIONS: BRTO can be performed safely and effectively for the treatment of GV bleeding. However, aggravation of EV or bleeding from EV is not uncommon after BRTO; thus, periodic endoscopy to follow-up of EV with or without prophylactic treatment might be necessary in LC patients undergoing BRTO.
Adult ; Aged ; Asian Continental Ancestry Group ; *Balloon Occlusion/adverse effects ; Endoscopy, Gastrointestinal ; Esophageal and Gastric Varices/*complications ; Female ; Follow-Up Studies ; Gastrointestinal Hemorrhage/etiology/prevention & control/*therapy ; Humans ; Liver Cirrhosis/*complications ; Male ; Middle Aged ; Odds Ratio ; Pulmonary Embolism/etiology ; Recurrence ; Republic of Korea ; Retrospective Studies ; Severity of Illness Index ; Treatment Outcome

Baker's cysts are one of the most common cystic lesions around the knee joint and mainly caused by fluid distension of the gastrocnemius-semimembranous bursa that is situated along the medial side of the popliteal fossa. Typically, a Baker's cyst extends along the intermuscular planes around the knee joint and may enlarge any direction. However, it is mostly located in the inferomedial or superficial layers of the knee joint and less commonly extends laterally or proximally. Expansion of the cyst tends to respect the intermuscular planes, and Baker's cysts along the intramuscular route have been rarely reported. Thus, we report a case of Baker's cyst with intramuscular extension into the vastus medialis muscle.
Knee Joint ; Muscles ; Popliteal Cyst ; Quadriceps Muscle