Living donor liver transplantation for myocerebrohepatopathy spectrum due to POLG mutations.

BACKGROUND: POLG is one of several nuclear genes associated with mitochondrial DNA maintenance defects and is a group of diseases caused by mitochondrial DNA deficiency that results in impaired adenosine triphosphate production and organ dysfunction. Myocerebrohepatopathy spectrum (MCHS) is the most severe and earliest presentation of POLG mutations, and liver transplantation (LT) for MCHS has never been reported. CASE PRESENTATION: The patient was a 3-month-old boy with acute liver failure and no neurological manifestations (e.g., seizures). We performed a living donor LT using a left lateral segment graft from his father. The postoperative course was uneventful. Subsequently, a homozygous POLG mutation (c.2890C>T, p. R964C) was identified by multigene analysis of neonatal/infantile intrahepatic cholestasis. Moreover, respiratory chain complex I, II, and III enzyme activities and the ratio of mtDNA to nuclear DNA in the liver were reduced. Therefore, we considered that these clinical manifestations and examination findings met the definition for MCHS. During meticulous follow-up, the patient had shown satisfactory physical growth and mental development until the time of writing this report. CONCLUSION: We presumed that the absence of remarkable neurologic manifestations prior to LT in patients with MCHS is a good indication for LT and contributes to a better prognosis in the present case.

The association of ectopic craniopharyngioma in the fourth ventricle with familial adenomatous polyposis: illustrative case.

BACKGROUND: Craniopharyngioma (CP) often arises in the sellar and suprasellar areas; ectopic CP in the posterior fossa is rare. Familial adenomatous polyposis (FAP) is a genetic disorder involving the formation of numerous adenomatous polyps in the gastrointestinal tract, and it is associated with other extraintestinal manifestations. OBSERVATIONS: The authors reported the case of a 63-year-old woman with FAP who presented with headache and harbored a growing mass in the fourth ventricle. Magnetic resonance imaging (MRI) findings revealed a well-circumscribed mass with high intensity on T1-weighted images and low intensity on T2-weighted images and exhibited no contrast enhancement. Gross total resection was performed and histopathology revealed an adamantinomatous CP (aCP). The authors also reviewed the previous reports of ectopic CP in the posterior fossa and found a high percentage of FAP cases among the ectopic CP group, thus suggesting a possible association between the two diseases. LESSONS: An ectopic CP may be reasonably included in the differential diagnosis in patients with FAP who present with well-circumscribed tumors in the posterior fossa.

Mortality and morbidity of infants with trisomy 21, weighing 1500 grams or less, in Japan.

Although very low birth weight (VLBW) is well studied in neonatology and the perinatal prognosis of VLBW infants has improved over time, little is known about the prognosis of VLBW infants with trisomy 21 (T21). We aimed to investigate the mortality and morbidity of VLBW infants with T21 during NICU admission in Japan, in comparison to those of infants without birth defects (BD-). Maternal and neonatal data of infants weighing 1500 grams or less admitted to the centers of the Neonatal Research Network of Japan from 2003 to 2016 were collected prospectively. Of 60,136 infants, 328 (0.55%) had T21. Although maternal age in the case of T21 infants was higher, maternal complications tended to be less frequent than in those with BD-. Multivariable analysis revealed that morbidities were higher in infants with T21 than in those with BD- but respiratory distress syndrome and retinopathy of prematurity were less frequent in those with T21 (p < 0.001, and p = 0.014, respectively), and no significant difference was observed between the two groups in the proportion of late-onset circulatory collapse of prematurity as well as cystic periventricular leukomalacia (p = 0.739 and p = 0.733, respectively). The survival rate at discharge from the NICU was 77% and 94% for T21 and BD-, respectively. This was the first nationwide survey of VLBW infants with T21 in Japan. Although there were no data regarding the timing of diagnosis, these data will aid prenatal genetic counseling and perinatal management of T21 infants.

[Ectopic Adrenocorticotropic Hormone-Producing Pulmonary Carcinoid Presenting as Cushing's Syndrome after Intrapleural Hyperthermic Chemotherapy].

The patient was a woman in her 70's was referred to our hospital because of an abnormal shadow on chest roentgenogram at an annual medical checkup. Since preoperative examinations suggested lung cancer in the right middle lobe, thoracoscopic right middle lobectomy was planned. However, pleural dissemination was detected at surgery and we changed the treatment plan to the intrapleural hyperthermic chemotherapy. During the postoperative course, facial edema, hypokalemia, and hyperglycemia developed, and the diagnosis of Cushing's syndrome was suggested based on an increase in serum level of adrenocorticotropic hormone (ACTH) and cortisol, and was confirmed by a dexamethasone suppression test. Intrapleural hyperthermic chemotherapy was likely to collapse the ACTH-producing tumor leading Cushing's syndrome.

A familial case of alveolar capillary dysplasia with misalignment of the pulmonary veins: the clinicopathological features and unusual glomeruloid endothelial proliferation.

BACKGROUND: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare disorder of pulmonary vascular abnormality with persistent pulmonary hypertension of the newborn. The symptom usually presents within hours after birth, leading to an early demise. Heterozygous de novo point mutations and genomic deletions of the FOXF1 (forkhead box F1) gene or its upstream enhancer have been identified in most patients with ACD/MPV. Most cases of ACD/MPV are sporadic; however, familial cases are also reported in 10% of patients. CASE PRESENTATION: We herein report a case of familial ACD/MPV that showed unusual glomeruloid proliferation of endothelial cells. In this family, three of the four siblings died within two to 3 days after birth because of persistent pulmonary hypertension and respiratory failure. Only the second child remains alive and healthy. An autopsy was performed for the third and fourth children, resulting in a diagnosis of ACD/MPV based on the characteristic features, including misalignment of smaller pulmonary veins and lymphangiectasis. In both of these children, glomeruloid endothelial proliferation of vessels was noted in the interlobular septa. The vessels were immunohistochemically positive for D2-40, CD31, Factor VIII, and ERG, suggestive of differentiation for both lymphatic and blood vessels. CONCLUSIONS: Unusual glomeruloid endothelial proliferation was observed in a familial ACD/MPV case. This histologic feature has not been described previously in ACD/MPV or any other pulmonary disease. Although the histogenesis of this histologic feature is unclear, this finding may suggest that ACD/MPV is a compound vascular and lymphovascular system disorder that exhibits various histologic features.

What echocardiographic indices are predictive of patent ductus arteriosus surgical closure in early preterm infants? A prospective multicenter cohort study.

BACKGROUND: No echocardiographic indices for predicting the need for preterm patent ductus arteriosus (PDA) surgery have been tested with an adequate sample size. We tested the hypothesis that some echocardiographic indices have better predictive ability for the need for PDA surgery. METHODS: We prospectively collected data from infants with gestational ages between 23 and 29 weeks at 34 Japanese neonatal intensive care units over 14 months. Data points were 1, 3, 7, and 14 days of age and, if applicable, before PDA surgery. We assessed five echocardiographic indices. Volume and dimension indices were adjusted for birth body weight (BBW). For each echocardiographic index, the worst value among all data points in nonsurgical patients or the value just before surgery in surgical patients was used. Multivariate logistic regression was applied with adjustment for clinical status. RESULTS: In total, 691 patients were analyzed, of whom 61 (8.8%) underwent surgery, as guided using the criteria in the protocol. The areas under the receiver-operating characteristic curve for PDA diameter (0.86) and PDA diameter/BBW (0.86) were the largest, followed by those of left pulmonary artery end-diastolic velocity (LPAedv) (0.80), and left atrial volume/BBW (0.80). CONCLUSIONS: Considering the measurement's easiness and independence of body size, PDA diameter and LPAedv may serve as useful indices for assessing the need for PDA surgery in early preterm infants.

Thirteen cases of pulmonary dirofilariasis in a single institution in Okinawa Island.

Pulmonary dirofilariasis is an infection caused by Dirofilaria immitis, which is an endemic parasite in Japan. We experienced 13 surgical cases of pulmonary dirofilariasis in our hospital. Of the 13 patients, 61.5% were men. The responsible lesions were located in the right lung in all cases, and 76.9% of them were in the lower lobe. Histologically, 12 cases showed necrotic nodules with peripheral granuloma with worms inside the pulmonary artery. One case did not show a necrotic nodule but showed only thickening and hyalinization of the pulmonary artery wall with a degenerated worm inside. Eosinophils were found histologically in all cases. Thirteen cases of dirofilariasis in one institution seem to be the largest number in Japan, based on previous reports. One reason for this increased prevalence may be the hot and humid climate of our prefecture considering the ecology of the mosquito as a vector. Elastic staining and eosinophils in peripheral granulomatous areas can contribute to the diagnosis when the worms are degenerated.

First Pediatric Case of Infective Endocarditis Caused by Serratia Liquefaciens.

Infective endocarditis (IE) caused by Serratia liquefaciens has been reported in only 2 adults. We experienced the first pediatric (neonatal) case of IE caused by S. liquefaciens, with mitral valve vegetation 4 days after a palliative heart surgery. This report underscores the importance of treating for both gram-positive and gram-negative bacteria in IE cases until the blood cultures elucidate the details.

Comparison of GLUT-1, SGLT-1, and SGLT-2 expression in false-negative and true-positive lymph nodes during the 18F-FDG PET/CT mediastinal nodal staging of non-small cell lung cancer.

INTRODUCTION: Although positron emission tomography (PET) with 2-deoxy-2-[fluorine-18]fluoro-d-glucose integrated with computed tomography (CT), (18F-FDG PET/CT), has recently improved the mediastinal nodal staging of non-small cell lung cancer (NSCLC), this method can show false negativity. We immunohistochemically investigated the expression of glucose transporters (GLUT-1, SGLT-1, and SGLT-2) in false negative and true positive mediastinal nodes via 18F-FDG PET/CT. METHODS: We investigated patients with clinically-diagnosed N0/pathological N2 diseases and patients with clinically-diagnosed N2/pathological N2 disease. The patients who were included in this study were evaluated using 18F-FDG PET/CT followed by surgical resection between January 2004 and December 2015. The expression of GLUT-1, SGLT-1, and SGLT-2 in the metastatic mediastinal lymph nodes, and clinicopathological variables such as primary tumor size, lymph node size, histological type, and SUVmax of the primary lesion, were compared between false negative nodes and true positive nodes. RESULTS: The total number of PET false negative metastatic mediastinal lymph nodes was 22 in the 17 patients who were clinical N0/pathological N2, and the number of PET true positives was 15 in the 11 patients who were clinical N2/pathological N2. GLUT-1 expression was positive in five false negative nodes and 10 true positive nodes. SGLT-2 expression was positive in 12 false negative nodes and one true positive node, whereas both false negative and true positive nodes showed no SGLT-1 staining. Univariate analysis showed that the reduced expression of GLUT-1 (P = 0.015), and overexpression of SGLT-2 (P = 0.004) were the significant causative factors for false negative nodes. Multivariate analysis also showed that the reduced expression of GLUT-1 (P = 0.012) and overexpression of SGLT-2 (P = 0.006) were the significant causative factors for false negative nodes. CONCLUSION: It suggests that the reduced expression of GLUT-1 and overexpression of SGLT-2 are associated with false-negative lymph node metastases in NSCLC.

The Presence of Coexisting Lung Cancer and Non-Tuberculous Mycobacterium in a Solitary Mass.

BACKGROUND Whereas non-tuberculous mycobacterium (NTM) pulmonary disease can mimic lung cancer as a solitary pulmonary nodule or mass, the coexistence of lung cancer and NTM pulmonary disease in a single nodule or mass is rare. We report such a rare case, highlighting that during a bronchoscopes examination which comprises taking a transbronchial lung biopsy (TBLB), bronchial brushing, and bronchial lavage, a positive mycobacterium culture result for sputum or bronchial lavage fluid does not exclude the possibility of a concomitant lung cancer. CASE REPORT An 87-year-old male was referred to our institution for evaluation of an abnormal shadow on a chest x-ray scan. He had been previously healthy with no symptoms and an unremarkable medical history. A contrast-enhanced CT scan showed a cavitating mass measuring 20×40 mm with a thick ring-enhancing irregular wall in the left lower lobe. Although the TBLB of the lesion showed no malignant cells, sputum acid-fast bacilli smear and culture of the bronchial lavage fluid yielded positive results. An NTM infection, instead of lung cancer was suspected to have caused the mass because a Mycobacterium tuberculosis polymerase chain reaction showed negative results. However, we performed the surgery because NTM pulmonary disease and lung cancer cannot be differentiated. The results of a pathological examination of the mass showed an adenocarcinoma, and M. avium complex was detected in the cancer tissue culture. CONCLUSIONS Physicians should suspect the co-existent lung cancer and NTM infection in patients with solitary lung masses that yield a positive mycobacterium culture result for sputum or bronchial lavage fluid.

Mucoepidermoid Carcinoma of Arising from a Bronchogenic Cyst of the Diaphragm.

INTRODUCTION: Bronchogenic cysts may rupture or become infected, and malignant degeneration may occur. Although various types of malignant degeneration have been described, only a few reports of mucoepidermoid carcinoma arising from a bronchogenic cyst have been published. We report such a case. CASE: A 77-year-old female was referred to our institution for evaluation of left chest pain. A computed tomography scan showed an enhancing 65 × 70 mm mass of the left diaphragm. Based on the intraoperative findings of an intradiaphragmatic tumor involving the lower lobe of the left lung, the resection of the tumor with the wedge resection of left lower lobe and partial resection of the left diaphragm was performed. Histopathologic examination revealed a mucoepidermoid carcinoma arising from a bronchogenic cyst of the diaphragm with the presence of fibrous adhesion to the lower lobe. CONCLUSION: We believe that complete resection of any bronchogenic cyst is justified.

Postoperative Lung Torsion With Retained Viability: The Presentation and Surgical Indications.

BACKGROUND: We review our experience with postoperative lung torsion with retained viability. METHODS: A total of 2165 patients underwent pulmonary resection (lobectomy or segmentectomy) at our institution between 1 January, 1986, and 31 March, 2017. Eight (0.3%, six males and two females: median age, 68 years) had lung torsion with retained viability. RESULTS: The right upper lobe was resected in seven patients, while the left upper segment was resected in one patient. The lung torsion with retained viability was the right middle lobe in seven patients and the left lingular segment in one patient. A bronchoscopic examination was performed in four patients to diagnose the pulmonary torsion; however, it demonstrated no specific findings. Subsequently, computed tomography (CT) was performed in all the patients, and lung torsion was diagnosed in all the patients based on the CT findings. None of the patients showed any symptoms when lung torsion was diagnosed in them. The diagnosis of pulmonary torsion was made at a median of 4 days (range, 1-22 days) after the initial surgery. Six patients underwent detorsion of the affected lung, while one patient had a lobectomy, and one patient received conservative management. The lungs of all patients in which detorsion was performed adequately re-expanded. Frequent pneumonia in the viable torsed lung was diagnosed as a cause of death in the one patient who received conservative management. CONCLUSION: The timely decision to follow a surgical approach for lung torsion with retained viability can lead to a satisfactory outcome.

Analysis of gastrointestinal metastasis of primary lung cancer: Clinical characteristics and prognosis.

The prevalence of gastrointestinal metastasis of lung cancer is low. The aim of the present study was to analyze the frequency and clinical characteristics of metastases to the gastrointestinal tract by retrospectively assessing the clinical records of 2,066 patients with lung cancer. A total of 7 patients (0.33%) were diagnosed with gastrointestinal metastasis, including 4 patients with adenocarcinoma, 1 patient with large cell carcinoma and 2 patients with pleomorphic carcinoma. Furthermore, 3 of the patients presented with small bowel metastases, 2 with gastric metastases, 1 with large bowel metastasis and 1 with metastasis of the appendix. The mean time between the diagnosis of the lung tumors and the identification of gastrointestinal metastasis was 13.5 months (range, 3-49 months). The mean time between the identification of the gastrointestinal metastasis and mortality was 100.6 days (range, 21-145 days). In conclusion, the prognosis of patients with recurrence in distant organs, including the gastrointestinal tract, may be worse than patients with recurrence in distant organs, excluding the gastrointestinal tract, particularly those with symptomatic gastrointestinal metastasis. Therefore, the presence of clinical gastrointestinal metastasis may be life threatening; comprehensive evaluations are required to detect and monitor gastrointestinal metastasis during follow-up.

Lingular segment torsion following a left upper division segmentectomy.

INTRODUCTION: Numerous publications regarding lung torsion have reported lobar torsion after lobectomy. On the other hand, torsion of the remaining segment after segmentectomy is extremely rare. We herein report a rare case of lingular segment torsion following a left upper division segmentectomy. CASE: A 68-year old female underwent thoracoscopic segmentectomy of the left upper division. She underwent chest radiography immediately after the initial surgery, which revealed complete expansion on the operated side. Routine chest radiograph findings on postoperative day 1 demonstrated atelectasis on the operated side, although she did not have any symptoms. Chest computed tomography was conducted because a follow-up chest radiograph on postoperative day 5 showed no improvement, and she was diagnosed with torsion of the lingular segment. We performed an exploratory thoracotomy. Based on intraoperative findings, the lingular segment was found to have a 90° clockwise torsion along the pedicle axis, although the segment was viable. We straightened the kinked lingular segment and affixed the lingular segment to the left lower lobe. The postoperative course was uneventful. CONCLUSION: Although lobectomy is the most common cause of lung torsion, physicians should check for lung segment torsion when performing segmentectomy.

The long-term prognosis of induction chemotherapy followed by surgery for N2 non-small cell lung cancer: A retrospective case series study.

INTRODUCTION: The long-term prognosis of induction chemotherapy followed by surgery for N2 non-small lung cell cancer (NSCLC) remains controversial. PATIENTS AND METHODS: We retrospectively reviewed the data and assessed the prognosis of 31 N2-NSCLC patients who underwent induction chemotherapy followed by surgery at our institution between January 1999 and December 2013. Potential prognostic factors, such as age, gender, tumor histology, tumor marker levels, tumor size, the number of N2 lymph nodes, the time from the last induction chemotherapy to the date of surgery, induction chemotherapy, RECIST response, downstaging status, pathological stage, adjuvant chemotherapy, and EF, were analyzed. RESULTS: The chemotherapy regimens of 30 of the 31 patients included a platinum agent. Complete resection was performed in 96.7% of the cases. Pathological downstaging was induced in 9 (29%) of the 31 patients. The median follow-up period was 7.89 years. The median DFI was 13.9 months. The recurrence rate was 74.2%. The 5-year OS was 56.9%. Univariate analyses revealed that none of the factors significantly affected OS, while the tumor histology had a significant effect on the DFI. CONCLUSION: Although the recurrence rate in our study was similar to previous studies, our survival data were much better than those of past reports. Although the tumor histology was the only factor that had a significant association with DFI in the current study, the possibility of bias exists.

A rare case of congenital bronchoesophageal fistula in an adult.

INTRODUCTION: When congenital bronchoesophageal fistulas exist without atresia of the esophagus, the diagnosis can be delayed, although symptoms may occur early following fistula development. Therefore, while they are usually found in infants, they can be extremely rarely found in adults. We herein report a rare case of bronchoesophageal fistula without atresia in an adult. CASE: An 69-year-old male presented to the outpatient clinic with a decades-long history of cough with expectoration immediately after taking food, especially liquids. Computed tomograph, esophagoscopy, and esophagography revealed the fistulous communication between the mid-esophagus and right lower lobe bronchus, with consolidation in the right lower lobe. We performed right lower lobectomy with the closure and excision of the fistula. The histopathology of the fistula revealed the mucosa to be lined by stratified squamous epithelium. There was no evidence of inflammation, granuloma, or carcinoma. CONCLUSION: In conclusion, despite the benign nature of this malformation, if left untreated, it can cause long-term debilitating respiratory symptoms associated with the fistula. Therefore, the diagnosis should be considered in the evaluation of recurrent lung infection.

Partial Anomalous Pulmonary Venous Connection Coexisting with Lung Cancer: A Case Report and Review of Relevant Cases from the Literature.

A 45-year-old man had an abnormal shadow in the right lung field on an annual screening chest X-ray. He was diagnosed with Stage IA (cT1bN0M0) lung cancer. Initially, we did not notice an anomalous vein on non-contrast computed tomography. However, we found that the right upper lobe bronchus branched from the lateral wall of the right main bronchial orifice, above the level of the common right upper lobe bronchus. Therefore, the bronchus was thought to be a tracheal bronchus. We carefully reevaluated the patient using three-dimensional computed tomography angiography. This technique showed that the anomalous right superior pulmonary vein drained into the azygos vein along the superior vena cava. These findings confirmed a partial anomalous pulmonary venous connection of the right upper lobe. We performed video-assisted thoracoscopic right upper lobectomy and mediastinal lymph node dissection for definitive treatment for lung cancer and partial anomalous pulmonary venous connection. No hemodynamic problems occurred in the postoperative course.

Giant pedunclated lipoma of the esophagus: A case report.

INTRODUCTION: Although Esophageal lipoma is extremely rare and pathologically benign, surgical excision of the lipoma is recommended when symptomatic or uncertain biological behavior. In general, some of the esophageal lipoma has a stalk. The pedunclated non-invasive tumor can be removed by stalk ligation, which is either endoscopic or surgical approache. Therefore, the preoperative evaluation is essential. We herein present a case of a huge esophageal lipoma. CASE REPORT: A 82-year-old man, with a wet cough and dyspnea for 6 months, who had the huge mass that almost completely occupied the esophageal lumen, was referred to our institution for the treatment.We diagnosed the mass as non-invasive tumor that has a stalk at the close to the esophageal orifice, by the CT image using air injection into esophageal lumen. We performed excision of the pedunclated huge mobile mass by esophagotomy via right thoracic approach with use of endoloop. Pathological examination showed a lipoma. CONCLUSION: In conclusion, an adequate preoperative evaluation to identify the correct origin of the stalk is mandatory for a successful treatment. In order to do the adequate preoperative evaluation and successful surgery, our diagnostic method of CT image can be effective.