X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX.Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter.The female has a history of multiple surgical treatments because of lower limb deformities. Her biochemical findings revealed low serum phosphorus levels with elevated serum alkaline phosphatase activity and normal serum calcium levels, suggesting presence of hypophosphatemic rickets. To identify the molecular causes, we used a multigene testing panel and found a mutation, c.667dup (p.Asp223GlyfsTer15), in PHEX gene. To the best of our knowledge, this is a novel mutation. A heterozygous form of the same variant was detected in daughter, who showed no typical symptoms such as bow legs, frontal bossing, or waddling gate, but presented early signs of impaired mineralization in both X-ray and biochemical findings. The daughter was initiated onto early medical treatment with oral phosphate supplementation and an active vitamin D analog. Because the daughter was genetically diagnosed based on a family history before the onset of symptoms, appropriate medical management was possible from early infancy.

PURPOSE: Owing to increased life expectancy, the number of elderly patients with gastric cancer has increased. This study aimed to identify the outcomes of gastric cancer patients aged 80 years or older through comparison of their clinicopathological characteristics, surgical outcomes, and oncologic outcomes. MATERIALS AND METHODS: Between January 2006 and December 2013, the records of 478 patients who underwent surgery for gastric cancer were retrospectively evaluated. Patients were divided into two groups: patients <80 years old (n=446) and patients ≥80 years old (n=32). RESULTS: There were no significant differences in sex, body mass index, length of hospital stay, duration of surgery, depth of invasion, nodal metastasis, histologic type, or tumor size between the two groups. However, significant differences were found for the American Society of Anesthesiologist score and the serum albumin level between the two groups. Postoperative morbidity, mortality, disease-free survival, and recurrence rate did not differ between curatively resected patients in the two groups. CONCLUSIONS: In elderly patients with gastric cancer, active treatment including radical gastrectomy is necessary.
Aged* ; Body Mass Index ; Disease-Free Survival ; Gastrectomy ; Humans ; Length of Stay ; Life Expectancy ; Mortality ; Neoplasm Metastasis ; Recurrence ; Retrospective Studies ; Serum Albumin ; Stomach Neoplasms* ; Treatment Outcome

Purpose: As the number of gastric cancer survivors is increasing and their quality of life after surgery is being emphasized, single-port surgery is emerging as an alternative to conventional gastrectomy. A novel multi-degree-of-freedom (DOF) articulating device, the ArtiSential ® device (LivsMed, Seongnam, Korea), was designed to allow more intuitive and meticulous control for surgeons facing ergonomic difficulties with conventional tools. In this study, we evaluated the feasibility of this new device during single-port laparoscopic distal gastrectomy (SP-LDG) for early gastric cancer (EGC) patients. Materials and Methods: Consecutive patients diagnosed with EGC who underwent SP-LDG with ArtiSential ® (LivsMed) graspers between April 2018 and August 2020 were enrolled in the study. The clinical outcomes were compared with those of a control group, in which prebent graspers (Olympus Medical Systems Corp) were used for the same procedures. Results: Seventeen patients were enrolled in the ArtiSential ® group. There was no significant difference in operative time (205.4±6.0 vs. 218.1±9.9 minutes, P= 0.270) or the quality of surgery, in terms of the number of retrieved lymph nodes (49.5±3.5 vs. 45.9±4.0, P=0.473), length of hospital stay (15.4±2.0 vs. 12.4±1.3 days, P=0.588), and postoperative complications (40.0% vs. 41.2%, P=0.595), between the ArtiSential ® group and the control group. Conclusions The new multi-DOF articulating grasper is feasible and can be used as an alternative for prebent graspers during SP-LDG.

PURPOSE: The aim of this study is to evaluate the feasibility and safety of cardia preserving proximal gastrectomy, in early gastric cancer of the upper third. MATERIALS AND METHODS: A total of 10 patients were diagnosed with early gastric cancer of the upper third through endoscopic biopsy. The operation time, length of resection free margin, number of resected lymph nodes and postoperative complications, gastrointestinal symptoms, nutritional status, anastomotic stricture, and recurrence were examined. RESULTS: There were 5 males and 5 females. The mean age was 56.5+/-0.5 years. The mean operation time was 188.5+/-0.5 minutes (laparoscopic operation was 270 minutes). Nine patients were T1 stage (T2 : 1), and N stage was all N0. The mean number of resected lymph nodes was 25.2+/-0.5. The length of proximal resection free margin was 3.1+/-0.1 cm and distal was 3.7+/-0.1 cm. Early complications were surgical site infection (1), bleeding (1), and gastro-esophageal reflux disease (1) (this symptom was improved with medication). Late complications were dyspepsia (3) (this symptom was improved without any treatment), and others were nonspecific results of endoscopy or symptom. CONCLUSIONS: Cardia preserving proximal gastrectomy was feasible for early gastric cancer of the upper third. Further evaluation and prospective research will be required.
Biopsy ; Cardia ; Constriction, Pathologic ; Dyspepsia ; Endoscopy ; Female ; Gastrectomy ; Gastroesophageal Reflux ; Hemorrhage ; Humans ; Lymph Nodes ; Male ; Nutritional Status ; Postoperative Complications ; Recurrence ; Stomach Neoplasms

PURPOSE: Laparoscopic total fundoplication is the standard surgery for gastroesophageal reflux disease. However, partial fundoplication may be a viable alternative. Here, we conducted a nationwide survey of partial fundoplication in Korea. METHODS: The Korean Anti-Reflux Surgery study group recorded 32 cases of partial fundoplication at eight hospitals between September 2009 and January 2016. The surgical outcomes and postoperative adverse symptoms in these cases were evaluated and compared with 86 cases of total fundoplication. RESULTS: Anterior partial fundoplication was performed in 20 cases (62.5%) and posterior in 12 (37.5%). In most cases, partial fundoplication was a secondary procedure after operations for other conditions. Half of patients who underwent partial fundoplication had typical symptoms at the time of initial diagnosis, and most of them showed excellent (68.8%), good (25.0%), or fair (6.3%) symptom resolution at discharge. Compared to total fundoplication, partial fundoplication showed no difference in the resolution rate of typical and atypical symptoms. However, adverse symptoms such as dysphagia, difficult belching, gas bloating and flatulence were less common after partial fundoplication. CONCLUSION: Although antireflux surgery is not popular in Korea and total fundoplication is the primary surgical choice for gastroesophageal reflux disease, partial fundoplication may be useful in certain conditions because it has less postoperative adverse symptoms but similar efficacy to total fundoplication.
Deglutition Disorders ; Diagnosis ; Eructation ; Flatulence ; Fundoplication* ; Gastroesophageal Reflux ; Humans ; Korea*

No abstract available.
Adenocarcinoma* ; Cervix Uteri* ; Female ; Humans

Bridging bronchus (BB) is an extremely rare tracheobronchial anomaly. This anomaly is often associated with a sling left pulmonary artery (SLPA) and is diagnosed in infancy or at autopsy. A 29-year-old female patient with previous history of pulmonary tuberculosis was admitted because of persistent fever, cough and sputum. Fiberoptic bronchoscope and chest computed tomography revealed a bridging bronchus and associated atelectasis. The right middle and lower lobe was supplied by a bronchus which originates from the left main bronchus and bridges the mediastinum. There was no anomaly of a left pulmonary artery. Right middle and lower bilobectomy was performed.
Adult* ; Autopsy ; Bronchi* ; Bronchoscopes ; Cough ; Female ; Fever ; Humans ; Mediastinum ; Pulmonary Artery ; Pulmonary Atelectasis ; Sputum ; Thorax ; Tuberculosis, Pulmonary

BACKGROUND: The huge improvements in the speed of data transmission and the increasing amount of data available as the Internet has expanded have made it easy to obtain information about any disease. Since pneumothorax frequently occurs in young adolescents, patients often search the Internet for information on pneumothorax. METHODS: This study analyzed an Internet community for exchanging information on pneumothorax, with an emphasis on the importance of accurate information and doctors’ role in providing such information. RESULTS: This study assessed 599,178 visitors to the Internet community from June 2008 to April 2017. There was an average of 190 visitors, 2.2 posts, and 4.5 replies per day. A total of 6,513 posts were made, and 63.3% of them included questions about the disease. The visitors mostly searched for terms such as ‘pneumothorax,’‘recurrent pneumothorax,’‘pneumothorax operation,’ and ‘obtaining a medical certification of having been diagnosed with pneumothorax.’ However, 22% of the pneumothorax-related posts by visitors contained inaccurate information. CONCLUSION: Internet communities can be an important source of information. However, incorrect information about a disease can be harmful for patients. We, as doctors, should try to provide more in-depth information about diseases to patients and to disseminate accurate information about diseases in Internet communities.
Adolescent ; Certification ; Humans ; Internet* ; Pneumothorax*

Objectives: Public healthcare data have become crucial to the advancement of medicine, and recent changes in legal structure on privacy protection have expanded access to these data with pseudonymization. Recent debates on public healthcare data use by private insurance companies have shown large discrepancies in perceptions among the general public, healthcare professionals, private companies, and lawmakers. This study examined public attitudes toward the secondary use of public data, focusing on differences between public and private entities. Methods: An online survey was conducted from January 11 to 24, 2022, involving a random sample of adults between 19 and 65 of age in 17 provinces, guided by the August 2021 census. Results: The final survey analysis included 1,370 participants. Most participants were aware of health data collection (72.5%) and recent changes in legal structures (61.4%) but were reluctant to share their pseudonymized raw data (51.8%). Overall, they were favorable toward data use by public agencies but disfavored use by private entities, notably marketing and private insurance companies. Concerns were frequently noted regarding commercial use of data and data breaches. Among the respondents, 50.9% were negative about the use of public healthcare data by private insurance companies, 22.9% favored this use, and 1.9% were “very positive.” Conclusions This survey revealed a low understanding among key stakeholders regarding digital health data use, which is hindering the realization of the full potential of public healthcare data. This survey provides a basis for future policy developments and advocacy for the secondary use of health data.

BACKGROUND: The aim of this study is to evaluate whether the optimal vitamin D level is achieved after taking recommended dose in vitamin D deficient patients. METHODS: This was a retrospective study. Women (n=52) first diagnosed with osteoporosis were recruited in outpatient clinic. They were recommended to be exposed to sun light for more than 30 min a day. Subjects were divided into 3 groups according to serum 25-hydroxy-vitamin D3 (25-[OH]D3) status: deficiency (less than 20 ng/mL), insufficiency (20-30 ng/mL) and sufficiency (30 ng/mL or more). Insufficient and sufficient patients received the recommended dose (1,000 IU/day) but deficient patients received recommended or double dose (1,800-2,000 IU/day). We compared 25-(OH)D levels at baseline and after vitamin D supplementation for 3 months. RESULTS: Median (interquartile range) serum 25-(OH)D concentration at baseline was 15.10 (13.30-16.97) ng/mL and the proportion of deficient, insufficient and sufficient groups were 69.2%, 23.1%, and 7.7% respectively. The optimal 25-(OH)D level (30 ng/mL or more) was achieved in 83.3% of insufficient patients with the recommended dose and was did in 55.6% of deficient patients with recommended dose (P=0.117). However, 88.9% of the deficient patient with double dose achieved optimal level (P=0.030). CONCLUSIONS: About 44% of vitamin D deficient patients did not attain the optimal level of serum 25-(OH)D despite recommended daily intake of vitamin D to 1,000 IU in patients with osteoporosis. Follow-up of serum 25-(OH)D levels may be required for vitamin D supplementation in vitamin D deficient patients with osteoporosis.
Ambulatory Care Facilities ; Calcifediol ; Female ; Follow-Up Studies ; Humans ; Osteoporosis* ; Recommended Dietary Allowances ; Retrospective Studies ; Solar System ; Vitamin D*