Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features

Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and airway obstruction. PRS does not have a single pathogenesis, but rather is associated with multiple syndromes. This report presents the case of a 35-year-old woman with PRS and scoliosis. Among the syndromes related to PRS, cerebro-costo-mandibular syndrome (CCMS), which is characterized by posterior rib gap defects and vertebral anomalies, was suspected in this patient. However, no posterior rib gap defect was detected on radiological examinations. Although over 80 cases of CCMS have been reported to date, few cases of PRS with scoliosis alone have been reported. Therefore, this report demonstrated the clinical, radiological, and cephalometric characteristics of an adult patient with PRS and scoliosis, but without rib anomalies.

Long-Term Clinical Outcomes of Endoscopic Submucosal Dissection in Patients with Early Gastric Cancer: A Prospective Multicenter Cohort Study

BACKGROUND/AIMS: Endoscopic submucosal dissection (ESD) has been regarded as a curative treatment for early gastric cancer (EGC) in indicated cases. The aim of this study was to evaluate the nationwide long-term clinical outcomes of ESD for EGC in Korea. METHODS: A prospective multicenter cohort study was performed to evaluate the long-term efficacy of ESD for EGC within pre-defined indications at 12 institutes in Korea. The cases that met the expanded criteria upon pathological review after ESD were followed for 5 years. The primary outcome was 5-year disease specific free survival. RESULTS: Six hundred ninety-seven patients with 722 EGCs treated with ESD were prospectively enrolled and followed for 5 years. Complete resection was achieved in 81.3% of the cases, and curative resection was achieved in 86.1%. During the 5-year follow-up, the overall survival rate was 96.6%, and the disease specific free survival rate was 90.6%. Local recurrence developed in 0.9%, and metachronous tumor development occurred in 7.8%; both conditions were treated by endoscopic or surgical treatment. Distant metastasis developed in 0.5% during follow-up. CONCLUSIONS: ESD showed excellent long-term clinical outcomes and can be accepted as a curative treatment for patients with EGC who meet the expanded criteria in final pathology studies.

The Relationship between the Amisulpride-Induced Hyperprolactinemia and Taq1A Polymorphism of the Dopamine D2 Receptor Gene in Schizophrenia Patients

OBJECTIVES: This study was aimed to investigate the association between amisulpride-induced hyperprolactinemia and the Taq1A polymorphism in the D2 dopamine receptor gene (DRD2) in schizophrenic patients. METHODS: The plasma concentrations of prolactin were measured before and after treatment with amisulpride in one hundred and twenty-five schizophrenic patients. The effect of the Taq1A variants of the DRD2 on the risk of amisulpride-induced hyperprolac-tinemia was the main the outcome measure. The genotyping for Taq1A (rs1800497) polymorphism was performed using TaqMan single nucleotide polymorphism (SNP) genotyping assay. RESULTS: There was a significant difference between the prolactin level at baseline and the 6th week after treatment with amisulpride in all the subjects. However, there were no significant correlations between ΔProlactin (the difference between prolactin level at baseline and the 6th week after treatment) and the Taq1A genotypes. CONCLUSIONS: This is the first study to investigate the-correlations between the Taq1A polymorphism and the amisulpride-induced hyperprolactinemia in Korean schizophrenic patients. The current results suggested the further large-scale researches on various SNPs in the DRD2 gene will establish clear goals and provide answers to the unanswered questions described in this study.

Inhibition by miR-410 facilitates direct retinal pigment epithelium differentiation of umbilical cord blood-derived mesenchymal stem cells

Retinal pigment epithelium (RPE) is a major component of the eye. This highly specialized cell type facilitates maintenance of the visual system. Because RPE loss induces an irreversible visual impairment, RPE generation techniques have recently been investigated as a potential therapeutic approach to RPE degeneration. The microRNA-based technique is a new strategy for producing RPE cells from adult stem cell sources. Previously, we identified that antisense microRNA-410 (anti-miR-410) induces RPE differentiation from amniotic epithelial stem cells. In this study, we investigated RPE differentiation from umbilical cord blood-derived mesenchymal stem cells (UCB-MSCs) via anti-miR-410 treatment. We identified miR-410 as a RPE-relevant microRNA in UCB-MSCs from among 21 putative human RPE-depleted microRNAs. Inhibition of miR-410 induces overexpression of immature and mature RPE-specific factors, including MITF, LRAT, RPE65, Bestrophin, and EMMPRIN. The RPE-induced cells were able to phagocytize microbeads. Results of our microRNA-based strategy demonstrated proof-of-principle for RPE differentiation in UCB-MSCs by using anti-miR-410 treatment without the use of additional factors or exogenous transduction.

Direct Conversion of Human Umbilical Cord Blood into Induced Neural Stem Cells with SOX2 and HMGA2

Recent advances have shown the direct reprogramming of mouse and human fibroblasts into induced neural stem cells (iNSCs) without passing through an intermediate pluripotent state. Thus, direct reprogramming strategy possibly provides a safe and homogeneous cellular platform. However, the applications of iNSCs for regenerative medicine are limited by the restricted availability of cell sources. Human umbilical cord blood (hUCB) cells hold great potential in that immunotyped hUCB units can be immediately obtained from public banks. Moreover, hUCB samples do not require invasive procedures during collection or an extensive culture period prior to reprogramming. We recently reported that somatic cells can be directly converted into iNSCs with high efficiency and a short turnaround time. Here, we describe the detailed method for the generation of iNSCs derived from hUCB (hUCB iNSCs) using the lineage-specific transcription factors SOX2 and HMGA2. The protocol for deriving iNSC-like colonies takes 1~2 weeks and establishment of homogenous hUCB iNSCs takes additional 2 weeks. Established hUCB iNSCs are clonally expandable and multipotent producing neurons and glia. Our study provides an accessible method for generating hUCB iNSCs, contributing development of in vitro neuropathological model systems.

Risk of Bacterial Infection from Proton Pump Inhibitor Use

Currently, proton pump inhibitors are used in a wide range of patients with gastroesophageal reflux disease, peptic ulcer, and upper gastrointestinal symptoms such as dyspepsia. In addition, the application of proton pump inhibitors for prevention of gastrointestinal complications induced by non-steroidal anti-inflammatory drugs is expected to increase their use in the future. The use of proton pump inhibitors promotes bacterial growth by reducing gastric acid concentration. If the acidity (pH) of the stomach fluid is lower than 4, most pathogens can be sterilized. However, patients who need to use a proton pump inhibitor should maintain a gastric acidity of at least 5 or 6, and can be at risk of infections such as pneumonia and Clostridium difficile infection. Several infectious diseases associated with the use of proton pump inhibitors were reviewed.

Gastric Duplication Cysts in Adults: A Report of Three Cases

Gastric duplication cyst is a rare congenital anomaly of the gastrointestinal tract and is especially uncommon in adults. Most cases in adults are discovered incidentally on radiological examination or gastric endoscopy. Accurate diagnosis of these cysts before resection is difficult. Differential diagnoses are varied. Malignant transformation of a gastric duplication cyst is very rare. We present three cases of asymptomatic noncommunicating gastric duplication cysts in adults.

The Significance of Serum Carcinoembryonic Antigen in Lung Adenocarcinoma

BACKGROUND: A raised carcinoembryonic antigen (CEA) may be associated with significant pathology during the postoperative follow-up of lung adenocarcinoma. METHODS: We reviewed the medical records of 305 patients who underwent surgical resections for primary lung adenocarcinoma at a single institution between April 2006 and February 2013. RESULTS: Preoperative CEA levels were significantly associated with age, smoking history, pathologic stage including pT (pathologic tumor stge), pN (pathologic nodal stage) and overall pathological stage, tumor size and differentiation, pathologically positive total lymph node, N1 and N2 lymph node, N2 nodal station (0/1/2=1.83/2.94/7.21 ng/mL, p=0.019), and 5-year disease-free survival (0.591 in group with normal preoperative CEA levels vs. 0.40 in group with high preoperative CEA levels, p=0.001). Preoperative CEA levels were significantly higher than postoperative CEA levels (p2.57 ng/mL was found to be the appropriate cutoff value for the prediction of cancer recurrence with sensitivity and specificity of 71.4% and 72.3%, respectively. Twenty percent of patients who had recurrence of disease had a CEA level elevated above this cutoff value prior to radiographic evidence of recurrence. Postoperative CEA, pathologic stage, differentiation, vascular invasion, and neoadjuvant therapy were identified as independent predictors of 5-year disease-free survival in a multivariate analysis. CONCLUSION: The follow-up CEA level can be a useful tool for detecting early recurrence undetected by postoperative imaging studies. The perioperative follow-up CEA levels may be helpful for providing personalized evaluation of lung adenocarcinoma.

Rotational pectoral musculocutaneous flap for the repair of gastric conduit necrosis in cervical esophagogastrostomy / 대한외과학회지

We experienced a case of wide necrosis of the cervical gastric conduit during esophageal cancer surgery. We attempted to repair this defect with various methods including conservative care, stents two times, and sternocleidomastoid muscle flap without successful results. Finally, we were able to reconstruct the gastric conduit defect with rotational pectoralis major musculocutaneous (PMM) flap. PMM flap is thought to be a reconstruction method applicable to the intractable gastric conduit defect.

Total Gastrectomy in Gastric Conduit Cancer

We report a very rare case of surgery on gastric conduit cancer. A 67-year-old male patient underwent esophagectomy and intrathoracic esophagogastrostomy for squamous cell carcinoma of the lower thoracic esophagus 27 months ago. Upon follow-up, a gastric carcinoma at the intra-abdominal part of the gastric conduit was found on an esophagogastroduodenoscopy. We performed total gastrectomy and esophagocolonojejunostomy in the manner of Roux-en-Y anastomosis. The postoperative course was not eventful and an esophagogram on the 10th postoperative day showed no leakage or stenosis of the passage. The patient was discharged on the 17th day with no complications.

A Case of Cap Polyposis Complicated with Idiopathic Retroperitoneal Fibrosis / 대한소화기학회지

An optimal treatment for cap polyposis has not been established. Several treatment approaches, including anti-inflammatory agents, antibiotics, immunomodulators, and endoscopic therapy have been described. Surgical resection of the affected colon and rectum may be indicated for patients with persistent disease. Repeat surgery is indicated in cases of recurrence after surgery. However, symptomatic polyposis may still recur, and spontaneous resolution of cap polyposis is possible. We report a case of recurrent cap polyposis complicated with retroperitoneal fibrosis after inadequate low anterior resection with a positive resection margin. Surgical approaches for the treatment of cap polyposis should be carefully considered before treatment.

Lung Cancer Associated with Sarcoidosis: A case report

Sarcoidosis is a somewhat common pulmonary disease, but the concurrence of lung cancer and sarcoidosis in the same patient is very rare. Because sarcoidosis usually presents as mediastinal lymphadenopathies, this concurrence in a lung cancer patient detected radiologically is apt to be misunderstood to be mediastinal metastases, and it is thus considered to be an unresectable disease. We report a case of lung cancer associated with sarcoidosis that developed in a 65-year-old woman who underwent surgery. Radiological studies revealed a 1.9x1.7 cm mass in the left upper lobe with multiple enlarged bilateral mediastinal lymph nodes (2R, 3a, 4R, 4L, 5, 6, 7, 8R). Pathologic findings showed that the mass was a well-differentiated adenocarcinoma and all of the enlarged mediastinal lymph nodes were granulomas without cancer metastasis. We report this case with a review of the literature.

Lung Cancer Associated with Sarcoidosis: A case report

Sarcoidosis is a somewhat common pulmonary disease, but the concurrence of lung cancer and sarcoidosis in the same patient is very rare. Because sarcoidosis usually presents as mediastinal lymphadenopathies, this concurrence in a lung cancer patient detected radiologically is apt to be misunderstood to be mediastinal metastases, and it is thus considered to be an unresectable disease. We report a case of lung cancer associated with sarcoidosis that developed in a 65-year-old woman who underwent surgery. Radiological studies revealed a 1.9x1.7 cm mass in the left upper lobe with multiple enlarged bilateral mediastinal lymph nodes (2R, 3a, 4R, 4L, 5, 6, 7, 8R). Pathologic findings showed that the mass was a well-differentiated adenocarcinoma and all of the enlarged mediastinal lymph nodes were granulomas without cancer metastasis. We report this case with a review of the literature.

Surgical Resection of Pulmonary Metastasis from Renal Cell Carcinoma

BACKGROUND: Renal cell carcinoma has shown less response to systemic therapies including chemotherapy, radiation, and immunotherapy than other cancers. Surgery has therefore become an important treatment tool. The protocol for treatment is the same for pulmonary metastasis of renal cell carcinoma. We performed surgery for pulmonary metastatic renal cell carcinomas and analyzed the results. MATERIALS AND METHODS: We retrospectively analyzed 15 patients who had undergone pulmonary metastasectomy from renal cell carcinoma at our hospital from January 2005 to December 2009. RESULTS: No patients had extrathoracic metastatsis. The mean age was 60.2 years (range 35~73). There were 12 male and 3 female patients. The number of synchronous and metachronous patients were 8 and 7, respectively. The mean survival times of synchronous and metachronous patients were 32.6 and 42.9 months, respectively. 6 patients had single lesions and 9 patients had multiple (more than 3) lesions. The surgical procedures included wedge resection (10), lobectomy (2), wedge resection with segmentectomy (2), and segmentectomy (1). Median observation and survival time were 54.1 and 34.9 months. The 1-year and 3-year survival rates were 80% and 50%, respectively. CONCLUSION: Pulmonary resection for pulmonary metastatic renal cell carcinoma was found to be a safe and effective treatment modality when complete resection was performed.

Complete Resection of Pulmonary Metastatic Melanoma

BACKGROUND: The prognosis of melanoma metastasized to other organs is very poor. There have been many studies on metastatic melanoma in Western society, but there have been few studies done in Korea because of the small number of cases. MATERIALS AND METHODS: A retrospective review of 7 patients who underwent complete resection of pulmonary metastases from melanoma from January 2005 to December 2009 was performed. When the primary lesion was controlled or simultaneously controllable and no other metastatic lesion was found, pulmonary resections were performed. We analyzed the clinical prognoses after the initial melanoma diagnosis. RESULTS: Of the seven patients, one was male and six were female. The mean age was 58.2 years (range 45~71). Six patients had a single pulmonary lesion and one patient had three lesions confined to the same lobe. The mean disease-free interval was 43.5 months (0~146 months). Before pulmonary resection, 4 patients had received systemic therapy. After pulmonary resection, 6 patients received systemic therapy. Complete resection was confirmed histologically. The metastasectomy was performed by wedge resection (6 patients) or lobectomy (1 patient). There were no mortalities or complications. After pulmonary resection, 1 patient had recurrent multiple lesions in the lung and 4 patients had metastases to other organs. The organs were the liver, brain, pleura, and lymph nodes. The mean observation time was 31.6 months and 3 patients died during observation. The mean survival was 27.7 months (14~60 months) and the 1-year and 3-year survival rates were 100% and 42%, respectively. CONCLUSION: When patients were selected carefully, the complete resection of pulmonary metastatic lesions was considered a major therapeutic tool.

Diffuse Alveolar Hemorrhage in a 39-year-old Woman: Unusual Initial Presentation of Microscopic Polyangiitis

Microscopic polyangiitis (MPA) is a necrotizing vasculitis involving the small vessels without granulomatous inflammation. Most MPA initially presents with renal involvement without pulmonary involvement. Isolated and initially presenting alveolar hemorrhage is very rare. The patient was a 39-year-old female with a progressive cough, dyspnea, and blood-tinged sputum for the previous 5 days. We determined that her condition was MPA though VATS lung biopsy and renal biopsy. After 2 months of steroid therapy, the chest lesions had improved. We report here a rare case of MPA with isolated and initial involvement of the lung with a review of the literature.

Expression of the survivin-2B splice variant related to the progression of colorectal carcinoma / 대한외과학회지

PURPOSE: Recently, two alternatively spliced survivin variants, survivin-DeltaEx3 and survivin-2B, were identified in a single copy of the survivin gene. It has been reported that the expressions of survivin splice variants significantly correlates with the clinical results in many types of human carcinoma. We investigated the transcription levels of survivin and its splice variants in human colorectal carcinomas, and analyzed correlations between survivin expression levels and clinicopathologic features. METHODS: We used Western blot and real-time quantitative reverse transcription polymerase chain reaction (RT-PCR) to analyze the protein and mRNA expression levels of survivin variants in 51 colorectal carcinomas. The quantitative RT-PCR was performed using primer pairs specific for survivin and each of its splice variants, then normalized for the gene that encodes glyceraldehydes-3-phosphate dehydrogenase. RESULTS: In Western blotting, the protein levels of survivin were higher in the tumor tissue than in normal tissue. The expression of survivin, survivin-2B and survivin-DeltaEx3 mRNA was present in 96%, 64.7%, and 82.4% of the samples, respectively. When the pathologic parameters were compared, colorectal cancers of advanced pT stages showed significant decrease in survivin-2B mRNA expression by the quantitative RT-PCR (P < 0.001). CONCLUSION: The decreased expression of survivin-2B might be related to tumor progression in colorectal cancers. This finding indicates that alternatively spliced variants of survivin may be involved in refining the functions of survivin during tumor progression.

Primary Pleural Small Cell Carcinoma: A case report / 대한흉부외과학회지

A primary pleural small cell carcinoma is an extremely rare disease. Because of a newly developed metastatic lesion, we performed an operation on a patient who had undergone a right upper lobe lobectomy for adenocarcinoma 3 years previously. We resected the pleural lesion and the pathology report showed that it was not a metastatic lesion, but rather, it was a primary pleural small cell carcinoma. So we reported this case and we review the relevant literature.

Open Embolectomy of an Acute Pulmonary Artery Embolism after Pulmonary Lobectomy / 대한흉부외과학회지

Acute massive pulmonary artery embolism after pulmonary resection is very rare, but has a high mortality rate. This is one of the most severe complications after pulmonary resection. Acute pulmonary artery embolism developed suddenly in a patient who underwent lobectomy and was recovering without complications. Because the patient's condition was aggravated after conservative treatment, we did emergency open embolectomy which was successful. Hence, we report this case with a literature review.

Simple Congenital Cystic Adenomatoid Malformation with a Feeding Artery: A case report / 대한흉부외과학회지

CCAM with no other anomalies such as sequestration receives its blood supply from the pulmonary artery. Our case presented with a simple CCAM and no other anomalies but with a feeding artery. Although preoperative evaluation may not show feeding arteries, they may exist in congenital cystic lung diseases.