Purpose: Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by arylsulfatase A deficiency, which leads to progressive demyelination in both the central and peripheral nervous systems, resulting in significant gross motor deterioration. This study aimed to analyze data concerning neuroimaging and clinical phenotypes of MLD patients, categorized by disease subtype. Methods: Patients diagnosed with MLD based on arylsulfatase A enzymatic activity, demyelination observed in brain magnetic resonance images, and/or pathogenic mutations were included in this study. The medical charts of 10 patients with confirmed MLD were retrospectively reviewed. We used a simplified magnetic resonance imaging (MRI) scoring system and clinical status, including survival. We analyzed the correlations between the scores of specific neuroimaging lesions and clinical status in two groups, categorized as late-infantile and juvenile types based on the age at symptom onset. Results: We detected a positive relationship between clinical function deterioration and MRI score (rho=0.59, P=0.002) in patients with MLD. This correlation was stronger in the late-infantile type (rho=0.700, P=0.003) than in the juvenile type (rho=0.513, P=0.029). A strong relationship was also noted in patients with high signal intensities in the pons and basal ganglia, and cerebellar atrophy, but not in those with lesions in the midbrain. MLD with a high MRI score was associated with poor clinical function. Conclusion The identified correlations between modified MRI scores and clinical function scales may help predict the prognosis of patients with MLD, thereby aiding in the identification of treatment options and enhancing the quality of life for these patients.

PURPOSE: Minimally invasive central pancreatectomy has rarely performed because of its technical difficulty. Robot system enhances surgical dexterity to perform such complex procedures. METHODS: A 29-year-old woman was admitted with acute cholecystitis and an 1.4 cm enhancing mass was incidentally found at the pancreatic proximal body on computed tomography. Preoperative image studies suggested a neuroendocrine tumor or solid pseudopapillary neoplasm. The patient underwent robotic cholecystectomy and central pancreatectomy with pancreaticojejunostomy. RESULTS: The total operation time was 280 minutes and the estimated amount of intraoperative bleeding was 100 ml. The postoperative recovery was uneventful and she was discharged on the 7(th) postoperative day. Pathologic examination reported a solid pseudopapillary neoplasm. CONCLUSION: The technical difficulties associated with the procedure can be overcome with the help of the wrist-like movement of the robotic instruments, especially for the preservation of splenic vessels and for creating precise anastomoses in narrow spaces.
Adult ; Cholecystectomy ; Cholecystitis, Acute ; Female ; Hemorrhage ; Humans ; Neuroendocrine Tumors ; Pancreatectomy* ; Pancreatic Neoplasms ; Pancreaticojejunostomy* ; Robotic Surgical Procedures

X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder is most often complicated by respiratory failure. Herein, we describe a family with 2 infants with XLMTM which was diagnosed by gene analysis and muscle biopsy. In both cases, histological findings of muscle showed severely hypoplastic muscle fibers with centrally placed nuclei. From the family gene analysis, the Arg486STOP mutation in the MTM1 gene was confirmed.
*Codon, Nonsense ; Humans ; Male ; Muscle Hypotonia/genetics/pathology ; Myopathies, Structural, Congenital/*genetics/pathology ; Pedigree ; Protein Tyrosine Phosphatases, Non-Receptor/*genetics

Fibroepithelial polyp (FEP) and lymphangioma circumscriptum (LC) of the vulva are rare diseases that occur generally in young to middle-aged women. The pathogenesis of FEP is not clearly understood. Several previous cases have suggested that a hormonal influence may be a predisposing condition for developing FEP with or without chronic inflammation. A 68-year-old postmenopausal woman presented with a history of multiple raised lesions on the vulva with a 1-year duration. Additionally, a pedunculated mass had appeared 6 months earlier in the left lower labia minora. The patient underwent simple excision by electrocautery. The final pathological diagnosis was FEP with LC. In this case, the development of FEP was associated only with chronic inflammation induced by LC. Therefore, the case supports the hypothesis that a chronic inflammatory process may be related to the development of FEP even without hormonal influence.
Aged ; Diagnosis ; Electrocoagulation ; Female ; Humans ; Inflammation ; Lymphangioma* ; Neoplasms, Fibroepithelial ; Polyps* ; Polytetrafluoroethylene ; Postmenopause ; Rare Diseases ; Vulva*

OBJECTIVE: The purpose of this study was to evaluate the impact of pelvic organ prolapse (POP) repair on overactive bladder (OAB) symptoms in women with POP and the effect of baseline POP severity on improvement in OAB after surgical repair of POP. And we also tried to identify any preoperative factors for persistent postoperative OAB symptoms. METHODS: A total of 87 patients with coexisting POP and OAB who underwent surgical correction of POP were included and retrospectively analyzed and postoperative data was obtained by telephone interview. OAB was defined as an affirmative response to item no. 15 (urinary frequency) and item no. 16 (urge incontinence) of the Pelvic Floor Distress Inventory. POP severity was dichotomized by Pelvic Organ Prolapse Quantification stage 1 to 2 (n=22) versus stage 3 to 4 (n=65). RESULTS: OAB symptoms were significantly improved after surgical treatment (P<0.001). But there was no significant differences in postoperative improvement of frequency and urge incontinence between stage 1 to 2 group versus stage 3 to 4 group. Preoperative demographic factors (age, parity, and POP stage) were not significantly related to persistent postoperative OAB symptoms. CONCLUSION: Women with coexisting POP and OAB who undergo surgical repair experience significant improvement in OAB symptoms after surgery, but severity of POP had no significant difference in improvement of OAB symptoms. Postoperative persistent OAB symptoms were not related to age, parity, body mass index, and POP stage.
Body Mass Index ; Demography ; Female ; Humans ; Interviews as Topic ; Parity ; Pelvic Floor ; Pelvic Organ Prolapse* ; Retrospective Studies ; Urinary Bladder, Overactive* ; Urinary Incontinence, Urge

PURPOSE: To compare and analyze length change of patella tendon after intramedullary nailing of tibial shaft fracture using transtendinous approach. MATERIALS AND METHODS: Thirty-two cases were analyzed from December, 1999 to December, 2005. Insall Salvati ratios were estimated. Severity of initial trauma, duration of nail retension, knee function and pain on change of length of patellar tendon was evaluated. RESULTS: Mean duration of nail retention was twenty-two months. The shortening of patella tendon was observed in 25 cases (p<0.001). The effect of AO type and the duration of nail retension on the decrease of Insall Salvati ratio was not significant (p>0.05, p=0.778). Lysholom score decrease to 89.5. There was no significant difference between the shortening of patellar tendon length and knee pain (p=0.058). CONCLUSION: After intramedullary nailing for closed tibia fracture, shortening of patellar tendon length is observed. That is irrelevant to the fracture type and the duration of nail retension. The shortening of patella tendon length may contribute to decreasing of knee function, but it was no significance of knee pain after intramedullary nailing.
Fracture Fixation, Intramedullary ; Knee ; Nails ; Patella ; Patellar Ligament ; Retention (Psychology) ; Tibia ; Tibial Fractures

Purpose: Despite enzyme replacement therapy (ERT) and/or allogeneic hematopoietic stem cell transplantation, individuals with mucopolysaccharidosis (MPS) I or II often experience significant growth deficiencies. This study aimed to assess the safety and efficacy of recombinant human growth hormone (hGH) treatment in children diagnosed with MPS I or II. Materials and Methods: A total of nine pediatric patients—four with MPS I and five with MPS II—underwent treatment with ERT and hGH at Samsung Medical Center. Results: The mean hGH dose administered was 0.26±0.03 mg/kg/week. In the MPS I group, three patients showed an increase in height Z-score from –4.09±0.83 to –3.68±0.43 after 1 year of hGH treatment, and to –3.10±0.72 by the end of the hGH regimen. In the MPS II group, while the height Z-score of four patients decreased according to standard growth charts, it improved from 1.61±1.79 to 2.71±1.68 based on the disease-specific growth chart through hGH treatment. Two patients discontinued hGH treatment due to lack of efficacy after 22 and 6 months each of treatment, respectively. No new-onset neurological symptoms or necessity for prosthetic or orthopedic surgery were reported during hGH treatment. Conclusion This study provides insights into the impact of hGH on MPS patients, demonstrating its potential to reverse growth deceleration in some cases. Further research is needed to explore the long-term effects of hGH on changes in body composition, muscle strength, and bone health in this population.

Aspirin has been used for decades for the primary and secondary prevention of cardiovascular disease (CVD). The effect of aspirin in secondary prevention is well-known but is still debatable for primary prevention. Despite the controversy, aspirin is believed to have a beneficial effect in primary prevention and has been widely used. However, whether the doubts concerning the wide use of aspirin are correct has resulted in the publication of data from several large clinical trials recently. There are several clinical guidelines from various international organizations on the use of aspirin for the primary prevention of CVD, and they offer some conflicting recommendations. A reduction in the overall incidence of CVD with the development of modern prevention therapies has weakened the impact of aspirin in primary prevention. Large randomized clinical trials have found decreased or no difference in CVD events but a significant increase in the risk of bleeding. Taking aspirin for the primary prevention of CVD is no longer recommended, especially for patients who have a low to moderate risk. An assessment of the balance between the benefits and risks of aspirin use should be considered.
Aspirin ; Cardiovascular Diseases ; Hemorrhage ; Humans ; Incidence ; Primary Prevention ; Publications ; Risk Assessment ; Secondary Prevention

Objective: Gastrointestinal perforation (GIP) is a life-threatening disease with a high mortality rate. The neutrophil to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) are recognized markers of inflammation associated with poor outcomes in a range of clinical situations. The study aimed to identify the independent risk factors with in-hospital mortality and examine the association of initial NLR and PLR with mortality in adult patients with GIP undergoing surgery. Methods: This was a multi-center retrospective observational study. This study reviewed the electronic medical records of adult patients with GIP admitted to three academic hospitals between January 2009 and December 2018, who underwent surgery. The demographic and clinical data of the GIP patients were obtained. A multivariate logistic regression model was used to evaluate the risk factors associated with in-hospital mortality and to determine the association between the initial NLR and PLR and in-hospital mortality. The primary outcome was all-cause in-hospital mortality. Results: Among the 9,279 patients, 879 adult patients with GIP underwent surgery. Seventy-eight patients (8.9%) died and 801 (91.1%) survived. Multivariate logistic regression analysis revealed female, underlying chronic renal failure, Creactive protein≥100 mg/L, and albumin<3.5 g/dL to be factors associated with in-hospital mortality (adjusted odds ratio [95% confidence interval], 2.73 [1.07-6.97], 4.20 [1.83-9.68], 8.43 [2.29-31.03], and 5.36 [2.29-12.59], respectively). Conclusion In adult patients with GIP receiving surgery, female, underlying chronic renal failure, initial high C-reactive protein, and low albumin might be independent risk factors associated with in-hospital mortality. The initial NLR and PLR were not found to be associated with mortality.

Langerhans cell histiocytosis (LCH) is a rare condition that usually occurs in children and commonly affects the skeletal system. It is extremely rare in adults, especially in the clavicles. In this report, we describe a pathologically confirmed case of LCH in the clavicle of a 50-year-old male. We report various radiological findings, such as plain radiography, CT, MR, and PET-CT, along with a review of the literature.