Poor Myocardial Compaction in a Patient with Recessive MYL2 Myopathy.

Recessive mutations in the Myosin regulatory light chain 2 (MYL2) gene are the cause of an infantile-onset myopathy, associated with fatal myocardial disease of variable macromorphology. We here present the first Japanese family affected with recessive MYL2 myopathy. Affected siblings manifested typical features and the proband's autopsy findings were compatible with the diagnosis of noncompaction cardiomyopathy. The rapidly progressive clinical course of this recessive MYL2 cardiomyopathy highlights the crucial role of c-terminal tails in MYL2 protein in maintaining cardiac morphology and function.

[A Case of Advanced Rectal Cancer with the Metastatic Abdominal Aortic Bifurcation Lymph Node Performed by Laparoscopic Surgery after Chemotherapy].

A 63-year-old underwent examination for constipation and was found to have an unresectable advanced rectal cancer. Metastatic abdominal aortic bifurcation lymph node and lung metastasis were suspected upon CT(cT3N3M1a[PUL1], cStage Ⅳa), and chemotherapy was administered(CapeOX plus Bmab). After 4 courses of chemotherapy, the size of the primary tumor and the lymph nodes decreased(PR). We performed laparoscopic rectum resection and abdominal aortic bifurcation lymph node. The pathological diagnosis indicated partial response(residual cancer cells)(Grade 1a). After 4 courses of chemotherapy(CapeOX), we performed pulmonary partial resection for metastatic lung cancer. This case suggests that laparoscopic resection of rectum after chemotherapy with CapeOX plus Bmab for locally advanced rectal cancer is a potential- ly effective procedure.

[Palliative Laparoscopic Operation for an Extremely Elderly Patient with Cecum Cancer].

Symptomatic colorectal cancer in extremely elderly patients is difficult to treat. A 97-year-old woman was initially suspected of having appendicitis because of worsening right lower abdominal pain with persistent fatigue. After antimicrobial therapy, advanced cecum cancer with lymph node involvement was found. Palliative laparoscopy-assisted ileocecal resection without radical lymph node dissection was performed to prevent further inflammation. The patient was transferred to another hospital for rehabilitation on postoperative day 24, when she regained walking function. This palliative procedure can be an effective treatment for elderly patients with symptomatic advanced colon cancer.

Vascular ring associated with d-transposition of the great arteries: when should we suspect aortic arch anomalies?

A male neonate with d-transposition of the great arteries was diagnosed with the concomitant anomaly of left circumflex aortic arch and right-sided ductus arteriosus, which formed a vascular ring. Initial postnatal echocardiography had demonstrated an obscured aortic isthmus mimicking coarctation of the aorta, which could be a diagnostic clue to circumflex aortic arch.

[A Case of Laparoscopic Surgery for Advanced Rectal Cancer with Lateral Lymph Node Metastasis Resected after Neoadjuvant Chemotherapy].

A 62-year-old man with diarrhea and metastases was found to harbor 2 rectal cancers. Both lateral lymph nodes were suspected based on CT and PET-CT(cT3N3M0, cStage Ⅲb). We planned to administer neoadjuvant chemotherapy(NAC) (CapeOX plus Bmab). After 4 courses of NAC, the sizes of both the primary tumor and lymph nodes decreased(partial response: PR). We performed laparoscopic abdominoperineal resection of the rectum(APR)with dissection of both lateral lymph nodes. The therapeutic effect was PR(few residual cancer cells)(Grade 2). After 4 courses of adjuvant chemotherapy (CapeOX), there have been no signs of recurrence for 8 months. This case suggests that laparoscopic APR after NAC with CapeOX plus Bmab for locally advanced rectal cancer is a potentially effective procedure.

Heart failure in dilated cardiomyopathy mimicking asthma triggered by pneumonia.

Heart failure is a rare cause of wheezing and may develop into a critical condition in children. Few cases report patients with heart failure, secondary to dilated cardiomyopathy, with high fever. A 23-month-old girl visited the emergency department with high fever, cough, first wheezing episode, chest retraction and tachycardia. The chest X-ray revealed consolidation on the left lower lung field; the cardiothoracic ratio was 60%. She was diagnosed with bronchial asthma triggered by pneumonia, which remained unchanged during four visits. Subsequently, she was diagnosed with heart failure in idiopathic dilated cardiomyopathy and discharged without sequelae. During the first wheezing episode in children with abnormal vital signs, heart failure should be considered in the differential diagnosis, and a chest X-ray should be performed. Additionally, when the cardiothoracic ratio is greater than 50%, 12-lead ECG and echocardiography should be performed. Moreover, cognitive bias should be considered in all emergency care unit situations.

[A case of metastatic gastric cancer originating from transverse colon cancer].

Metastatic gastric cancer is uncommon, and metastasis of colorectal cancer to the stomach is extremely rare. We report a case of metastatic gastric cancer that originated from transverse colon cancer. A 52-year-old woman underwent a left hemicolectomy and D3 lymph node dissection based on a diagnosis of transverse colon cancer. The pathology results were as follows: mucinous adenocarcinoma, type 2, 6 × 11 cm, ss, ly1 v1, pm (-), dm (-), n1 (+), P0, H0, M0, Stage IIIa. The patient received XELOX as postoperative adjuvant therapy for 6 months. One year and 3 months after the left hemicolectomy, gastroscopy revealed a submucosal tumor in the lower body of the stomach and an incipient cancer in the cardia of the stomach, and a colonoscopy revealed an incipient cancer in the transverse colon. An endoscopic ultrasonography fine needle aspiration biopsy of the submucosal tumor in the lower body of the stomach was performed. Histology showed that this tumor was a mucinous adenocarcinoma similar to the primary transverse colon cancer, which led to a diagnosis of metastatic gastric cancer originating from transverse colon cancer. Distant metastasis was not detected. Endoscopic submucosal dissection of the incipient gastric cancer was performed, as were distal gastrectomy and partial colectomy. Peritoneal dissemination and para-aortic lymph node recurrence were detected 7 months after the second surgery.

[A case of primary carcinoma associated with anal fistula].

A 47-year-old man with no history of anal fistula was admitted to our hospital with a complaint of perianal pain. Computed tomography (CT) imaging revealed perianal abscess. Incision and drainage were performed under spinal anesthesia. Ten months after drainage, magnetic resonance imaging revealed anal fistula on the left side of the anus. Subsequently, core-out and seton procedures were performed for ischiorectalis type III anal fistula. Pathological examination of the resected specimen of anal fistula revealed a moderately differentiated adenocarcinoma, leading to the diagnosis of carcinoma associated with anal fistula. No distant metastases or enlarged lymph nodes were observed on positron emission tomography (PET)/CT. We performed abdominoperineal resection with wide resection of ischiorectalis fat tissue. The pathology results were tub2, A, ly0, v0, n0, PM0, DM0, RM0, H0, P0, M0, Stage II. Negative pressure wound therapy was performed for perineum deficiency, after which rapid wound healing was observed. Left inguinal lymph node recurrence was detected 8 months after surgery, for which radiotherapy was administered. Distant metastasis was detected 11 months after surgery. The patient died 21 months after surgery.

[A case of hemobilia developing after radiofrequency ablation (RFA) for hepatocellular carcinoma].

We report a case of hemobilia developing after RFA for hepatocellular carcinoma. A 75-year-old woman with hepatitis C was diagnosed as hepatocellular carcinoma (d=15 mm) located in subsegment 7. Laboratory data on admission are AFP 37.3 ng/mL, PIVKA-II 20 mAU/mL, GOT/GPT 84/52 IU/L, T-Bil 1.1 mg/dL, Alb 3.8 g/dL, Plt 8.9x104/microL, and PT 11.8 seconds (INR 1.28) "Child classification A". Under general anesthesia, percutaneous RFA (Cool-tip radionics 10 minutes) was performed. Tumor appeared to be well treated, but on day 5 after the procedure, the patient had sudden upper abdominal pain, followed by the elevation of total bilirubin conc. (3.3 mg/dL) and decrease of Hb. Abdominal ultrasonography showed a debris-like shadow in the gall bladder. Hemobilia was confirmed because endoscopic examination revealed blood contaminated bile from the papilla Vater. Since spontaneous thrombolysis is known to occur in the bile, the patient was only followed by MRI. Symptoms were subsided in a week without any treatment. Obstructive jaundice due to hemobilia is a rare complication of RFA, and may be followed without any treatment.

[Repeated resections of asynchronous liver metastases after pancreatomy for pancreatic cancer--a case report].

The prognosis of pancreatic cancer is most dismal in all gastrointestinal cancers, because the patients with pancreatic cancer are vulnerable for recurrence such as local relapse and liver metastasis even after a complete surgical resection. We herein report a case of pancreatic cancer, which underwent resection of local relapse and multiresections of liver metastases, resulting in a relatively longer survival. A 71-year-old woman was referred to our hospital for a local recurrence in the tail of the pancreas in October 2006, 17 months after the first distal pancreatectomy. A second distal pancreatectomy was curatively performed on this patient. After the second surgery, sequent solitary liver metastases appeared, and we then performed partial hepatectomies repeatedly in August 2007, December 2007 and December 2008. The histopathological findings of each specimen from the resected liver showed tubular adenocarcinoma, same as the original pancreatic tumor obtained from the first surgery. Although chemotherapy was not permitted due to gemcitabine-induced interstitial pneumonitis, the patient is still alive over 4 years after the first operation under palliative care. This study discusses a controversial issue about the resection of the liver metastases from pancreatic cancer, along with the necessity for careful selection of the patients before attempting the operation.

[Advanced lung cancer with mediastinal lymph node metastasis and recurrence of brain metastasis completely responsive to combination chemotherapy and gamma knife radiosurgery--a case report].

We report a case in which advanced lung cancer with mediastinal lymph node metastasis and recurrence of brain metastasis was completely responsive to combination chemotherapy and gamma knife radiosurgery. The patient was a 61-year-old woman, who suffered from advanced lung cancer (SCC) with bilateral mediastinal lymph node metastasis and contralateral lung nodule. She was treated with CBDCA combined with PTX. Bilateral lung nodules were surgically resected. Seven months after resection, solitary brain metastasis appeared, and gamma knife radiosurgery was performed. Histological efficacy of both primary lung tumor (SCC) and metastatic brain tumor was evaluated as Ef 3 (pCR). She has had no recurrence for 3 years after radiosurgery.

[A case of nonfunctioning islet cell tumor with extensive calcification].

A 52-year-old man was admitted for detailed examination of a mass with extensive calcification in the tail of the pancreas by fluoro-deoxy glucose-positron emission tomography/computed tomography (FDG-PET/CT). Abdominal CT and magnetic resonance imaging (MRI) findings showed a calcified tumor 5 cm in diameter with a smooth surface. The tumor mainly showed calcification at it center and a partially solid element around it margin which was enhanced in the early phase. With no definiture preoperative diagnossi, we performed distal pancreatectomy and splenectomy. Pathological and immunohistochemical studies revealed a nonfunctioning islet cell tumor with calcification. A nonfunctioning islet cell tumor with central calcification formation as it grew to a maximum diameter of 7 cm is rare. When diagnosing pancreatic tumors it must be kept in mind that some nonfunctioning islet cell tumors of the pancreas can show nontypical features such as calcification formation.

[A case of metastases of umbilicus (Sister Mary Joseph's nodule)].

We report a case of advanced unresectable pancreatic cancer (cT4N1M0/stage IVa). The patient was a 68-year-old man. Chemo-radiation therapy (CRT) with GEM (1,000 mg/body) was administered once a week on days 1, 8 and 15 for 3 weeks. The radiotherapy dose was 45 Gy (1.5 Gy x 2/day, 15 days). After CRT, the patient was treated with a GEM+ UFT-E combination chemotherapy. When that was done, CT scan revealed metastases of umbilicus (Sister Mary Joseph's nodule) and the liver. Microwave Coagulation Therapy for the liver metastasis and tumorectomy for metastasis of umbilicus were performed. But he died after 4 months from the therapies.

[A case of gemcitabine-based chemo-radiation therapy for unresectable pancreatic cancer with liver metastases].

We report a case of advanced unresectable pancreatic cancer with multiple liver metastases (cT4N x M1, stage IVb). The patient is a 68-year-old man. Serum DUPAN-2 was 15,800 U/mL. Abdominal CT scan revealed the body and tail of pancreatic cancer and multiple liver metastases. Chemo-radiation therapy (CRT) with GEM 1000 mg/body was given once a week on days 1, 8 and 15 for 3 weeks. The radiotherapy dose was 45 Gy (1.5 Gy x 2/day, 15 days). Hematological side effect such as anemia (grade 3) and thrombopenia (grade 2) appeared, but could be well controlled. Abdominal CT scan revealed no change in size, but serum DUPAN-2 decreased up to 4590 U/mL. After CRT, the patient was treated thereafter by the combination chemotherapy with GEM and S-1. After 7 months, CT scan revealed no change in tumor size.