A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.

HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism (H), deafness (D), and renal dysplasia (R) caused by genetic variants of the GATA3 gene. We present the case of a 38-year-old Japanese man with HDR syndrome who exhibited hypoparathyroidism, sensorineural deafness, renal dysfunction, severe symptomatic hypocalcemia with Chvostek's and Trousseau's signs, and QT prolongation on electrocardiography. He had a family history of deafness and hypocalcemia. Genetic testing revealed a novel GATA3 gene variant at exon 2 (c.48delC), which induces a frameshift resulting in termination at codon 178, causing HDR syndrome. We summarized 45 Japanese cases of HDR syndrome with regard to the mode of onset (familial or sporadic) and the age at diagnosis. In addition, we summarized all previous cases of HDR syndrome with GATA3 gene variants. Mapping of previously reported genetic variants in HDR syndrome revealed that most missense variants were observed at exons 4 and 5 regions in the GATA3 gene. These two regions contain zinc finger domains, demonstrating their functional importance in GATA3 transcription. This review of literature provides a useful reference for diagnosing HDR syndrome and predicting the related future manifestations.

[Surgical Treatment for Ruptured Thoracoabdominal Aneurysm Following Descending Aortic Replacement with Double Barrel Anastomosis].

A 75-year-old woman was diagnosed with type B acute aortic dissection 14 years ago and 3-channeled aortic dissection 7 years ago. She received total arch replacement 6 years ago and descending aortic replacement with double barrel anastomosis technique for distal anastomosis 5 years ago. Computed tomography( CT) revealed giant thyroid tumor and thoracoabdominal aortic aneurysm( 58 mm in diameter). She suffered from back pain during her follow-up period. CT revealed ruptured thoracoabdominal aortic aneurysm. First, the false lumen of descending aorta was closed by thoracic endovascular aortic repair, and then thoracoabdominal aortic replacement was performed uneventfully.

[Right Atrial Myxoma After Catheter Ablation:Report of a Case].

An 81-year-old man underwent total arch replacement for thoracic aortic aneurysm 8 years ago and catheter ablation for paroxysmal atrial fibrillation 1 year ago. Transthoracic echocardiography revealed a mass in the right atrium, and the patient was admitted for close examination and treatment. Transesophageal echocardiography revealed a 23×17 mm large well-defined mass above the cavotricuspid isthmus. Two venous drainage cannulas were inserted directly to the superior vena cava and to the inferior vena cava via the right femoral vein, in order to avoid the direct contact with the right atrium prior to institution of cardiopulmonary bypass. The right atrial tumor was found attached to the cavotricuspid isthmus, and was resected together with the right atrial wall. Pathological examination showed myxomatous tissue. Postoperative course was uneventful. He was discharged 23 days after the operation.

Relationship between the changes in hepatokine levels and metabolic effects after laparoscopic sleeve gastrectomy in severely obese patients.

PURPOSE: To clarify the relationships between the changes in hepatokines and weight loss, and between these changes and the metabolic effects, and the roles played by these changes, after laparoscopic sleeve gastrectomy (LSG). METHODS: We recruited 25 Japanese patients with severe obesity, who underwent LSG. We measured two hepatokines: selenoprotein P (SeP) and leukocyte cell-derived chemotaxin 2 (LECT2), at the baseline, and then 6 months and 1 year after LSG. Finally, we compared the changes in the hepatokines with the parameters of type 2 diabetes (T2D) and non-alcoholic steatohepatitis (NASH). RESULTS: Changes in LECT2 were correlated with the percentage of total weight loss (ρ = - 0.499, P = 0.024) and the decrease in total fat area (ρ = 0.559, P = 0.003). The changes in SeP were correlated with those in hemoglobin A1c (ρ = 0.526, P = 0.043) and the insulinogenic index (ρ = 0.638, P = 0.010) in T2D patients. In patients with NASH, the LECT2 levels were correlated with liver steatosis (ρ = 0.601). CONCLUSIONS: SeP levels decrease in association with HbA1c reduction, whereas LECT2 levels are associated with reductions in fat mass and NASH scores after LSG. Hepatokines may be involved in the pathology of obesity and its complications.

[Very Late Stent Thrombosis during Perioperative Period of Aortic Valve Replacement:Report of a Case].

A 73-year-old man underwent drug eluting stent (DES) implantation in the left anterior descending artery (LAD) 11 years ago and in the right coronary artery (RCA) 8 years ago. He suffered from chest tightness and was diagnosed with severe aortic valve stenosis. Perioperative coronary angiography revealed no significant stenosis and thrombotic occlusion of the DES. Five days before operation, antiplatelet therapy was discontinued. Aortic valve replacement was performed uneventfully. But he developed chest pain and transient loss of consciousness, electrocardiographic changes were observed on the 8th postoperative day. Emergency coronary angiography revealed thrombotic occlusion of the drug eluting stent in the RCA, despite the postoperative oral adoministration of warfarin and aspirin. Percutaneous catheter intervention (PCI) restored the stent patency. Dual antiplatelet therapy (DAPT) was initiated immediately after the PCI, and anticoagulation therapy with warfarin was continued. Clinical symptons of stent thrombosis disappeared immediately after the PCI. He was discharged 7 days after the PCI.

[Amyloidosis Diagnosed Following Aortic Valve Replacement:Report of a Case].

A 76-year-old man had been under observation for nephrotic syndrome. He suffered from hypotension and transient loss of consciousness. He was diagnosed with thoracic aortic aneurysm and severe aortic valve stenosis. Ascending aorta replacement concomitant with aortic valve replacement was performed uneventfully. He was diagnosed with light chain amyloidosis by pathological examination of the resected ascending aorta. He was received referral treatment for amyloidosis.

[Stanford Type A Acute Aortic Dissection Complicated by Right Lung Hemorrhage:Report of a Case].

A 59-year-old woman was transferred to our hospital because of a sudden onset of chest and back pain. Computed tomography (CT) demonstrated Stanford type A acute aortic dissection with cardiac tamponade and right airway bleeding. Hemorrhage from ruptured false lumen extended along the pulmonary artery (PA), compression of the right PA were recognized due to hematoma surrounding the PA. An emergency operation was performed. The primary tear was located at the distal aortic arch, and total arch replacement with frozen elephant trunk was performed. During the operation, she had airway bleeding. The bleeding was thought to be due to the hematoma extending along the pulmonary artery. She was extubated 7th postopratively. She was discharged 44 days after the operation.

[Delayed Type â ¢b Endoleak After Thoracic Endovascular Aortic Repair for Thoracic Aortic Aneurysm: Report of a Case].

An 85-year-old woman underwent aortic arch replacement and thoracic endovascular aortic repair (TEVAR) 5 years ago. She suffered from chest and back pain. Computed tomography (CT) demonstrated enlargement of the aortic aneurysm by a type Ⅲb endoleak. TEVAR was performed to close a type Ⅲb endoleak with a relining technique uneventfully. Intraoperative completion aortography and postoperative CT confirmed the disappearance of a type Ⅲb endoleak. She was discharged 27 days after the treatment.

[Surgical Treatment of the Perforation of the Right Ventricle and Diaphragm by a Permanent Pacing Lead:Report of a Case].

An 97-year-old woman was diagnosed with complete atrioventricular block and underwent pacemaker implantation( PMI). Three days after the PMI, computed tomography revealed cardiac perforation and migration of the lead to the abdominal cavity. Surgical procedure through median sternotomy was performed, and the penetrated lead was removed. The holes of the right ventricle and diaphragm were repaired. Abdominal organ was not injured. She was discharged 14 days after the surgical procedure.

[Acute Type A Aortic Dissection Complicated by Cerebral Malperfusion and Leg Ischemia:Report of a Case].

An 82-year-old woman suddenly developed chest pain and apoplexy. Computed tomography (CT) showed acute type A aortic dissection, the true lumen in the brachicephalic artery was severely compressed by the faulse lumen. Pulsation in the either leg was not detected during induction of anesthesia. We evaluated the cerebral blood flow and lower extremity blood flow using near infrared spectroscopy (NIRS) during the operation, tissue oxygenation index (TOI) was continuously monitored during the operation. Cardiopulmonary bypass( CPB) was established by puncturing the true lumen in the ascending aorta and bicaval venous drainage. TOI was returned to normal range by CPB. Although the central repair (ascending aorta replacement) was performed, leg ischemia persisted. We performed ascending aorta-bifemoral bypass. After the operation, leg ischemia disappeared and CT revealed patency of the bypass graft. Postoperative course was uneventful without deterioration of neurological function. She was discharged 49 days after the operation.

[Gallbladder Necrosis after Surgery for Stanford Type A Aortic Dissection in an Elderly Patient:Report of a Case].

An 86-year-old woman who suffered from cardiac tamponade due to acute Stanford type A aortic dissection was admitted to our hospital. An emergency operation was performed uneventfully. She suffered from abdominal pain 13 days after the operation. Computed tomography( CT) scan revealed pericholecystic fluid and unclear gallbladder wall, revealing acalculous necrotizing cholecystitis. We performed open cholecystectomy and abdominal cavity drainage. No gallstones were observed. She underwent intensive treatment. She was discharged without complications 44 days after the cholecystectomy.

[Compartment Syndrome After Stanford Type A Acute Aortic Dissection Surgery:Report of a Case].

A 53-year-old man presented to the emergency department with chest and back pain. Contrast-enhanced computed tomography( CT) revealed a Stanford type A acute aortic dissection with a pseudo-lumen occlusion. On the same day, the patient underwent emergent aortic arch replacement with frozen elephant trunk. When introducing cardiopulmonary bypass, arterial cannula was inserted into the right femoral artery. The day after surgery, swelling of the right lower leg appeared with CK and intramuscular compartment pressure elevation. Thus, the patient was diagnosed with compartment syndrome and decompressive fasciotomy was performed. Although there was no preoperative blood flow disturbance in the lower extremities on preoperative CT, lower limbs ischemia happened. Necrotic muscles in his right leg required debridement, but amputation was not needed. The patient was discharged unaided utilising orthotics on the day 120. In muscular, young male patients, care should be taken in the method of blood delivery.

New perspectives on obesity-induced adipose tissue fibrosis and related clinical manifestations.

Adipose tissue is a complex heterogeneous tissue composed of adipocytes along with several non-adipocyte populations, including blood, stromal, endothelial, and progenitor cells, as well as extracellular matrix (ECM) components. As obesity progresses, the adipose tissue expands dynamically through adipocyte hypertrophy and/or hyperplasia. This expansion requires continuous ECM remodeling to properly accommodate the size increase as well as functional changes. Upon reaching a hypertrophic threshold beyond the adipocyte buffering capacity, excess ECM components are deposited, causing fibrosis and ultimately resulting in unhealthy metabolic maladaptation. These complex ECM remodeling processes in adipose tissues are regulated by the local environment, several key mediators, and genetic factors that are closely linked to insulin sensitivity. It is crucial to understand how adipocytes interact with nonadipocyte populations and various mediators (i.e., immune cells, ECM components, and adipokines) during these processes. This mini-review provides an overview of the latest research into the biology of obesity-induced adipose tissue fibrosis and its related clinical manifestations, providing insight for further studies aimed at controlling metabolic syndrome and its comorbidities.

[Hybrid Treatment of the Intrathoracic Right Subclavian Artery Aneurysm:Report of a Case].

A 78-years-old woman was referred to our institution for the treatment of right subclavian artery (SCA) aneurysm. She previously underwent total arch replacement via median sternotomy approach. Preoperative computed tomography revealed a 55 mm sized SCA aneurysm. Stent graft was inserted from brachiocephalic artery to right common carotid artery via the graft anastomosed. The orifice of the right SCA was covered with stent graft inserted into the right common carotid artery-brachiocephalic artery and the right SCA was occluded with coils distal to the aneurysm, carotid-SCA bypass was performed with 8 mm ePTFE graft. Postoperative examination confirmed complete exclusion of the aneurysm and patency of the bypass graft. We thought that hybrid treatment for this patient was a less invasive alternative to conventional surgical procedure.

[Aortic Valve Replacement for Libman-Sacks Endocarditis:Report of a Case].

A 36-year-old woman with severe aortic valve stenosis was admitted to our hospital. She had been diagnosed with antiphospholipid syndrome complicated with systemic lupus erythematosus (SLE) and had been taking prednisolone( 10 mg/day) for 22 years. As SLE patients with prolonged steroid use are known to be at risk of an aortic dissection and aneurysm, femoral artery was chosen for arterial perfusion to reduce a risk of aortic dissection. Aortic valve replacement was performed uneventfully, because the aorta was treated carefully during the operation. Negative microbial culture and pathological examination of the resected aortic valve demonstrated an atypical vegetation, the findings of which were typically characteristic of Libman-Sacks endocarditis in SLE. She was discharged without complications 23 days after the operation.

[Localized Stenosis in a Non-anastomotic Site of the Ascending Aorta to Bifemoral Bypass Graft:Report of a Case].

An 85-year-old man received simultaneous coronary artery bypass grafting (CABG) and the ascending aorta to bifemoral bypass with a Dacron graft 11 years ago. He suffered from intermittent claudication. Angiography demonstrated a localized stenosis in a non-anastomotic site, straight portion of the graft. He received percutaneous transluminal angioplasty. The right ankle-brachial pressure index (ABI) improved from 0.58 to 0.74 and left ABI improved from 0.52 to 0.71. One year later, intermittent claudication appeared again, right ABI decreased to 0.53 and left ABI decreased to 0.52. Computed tomography( CT) demonstrated restenosis at the same portion of the graft. A re-do operation was performed, stenotic portion was removed and replaced by a new ePTFE graft. No restenosis was seen three years after the second operation. We thought that repeated temporary compression of the graft might have led to a clot formation in the non-anastomotic site.

[Internal Hernia Accompanying Intestinal Necrosis after Aortic Arch Replacement:Report of a Case].

A 76-year-old man with thoracic aortic aneurysm was admitted to our hospital. Aortic arch replacement was performed uneventfully. He suffered from abdominal pain 17 days after the operation. Computed tomography (CT) scan revealed a strangulated bowel obstruction, and we performed emergent open abdominal surgery. During the operation, we found an adhesion between the greater omentum and the retroperitoneum. The small intestine was intussuscepted into this site, and strangulated with necrosis of a 35-cm length. We performed a partial resection of the small intestine. We encountered rare strangulated bowel obstruction after open heart surgery due to adhesion of the great omentum in a patient without a history of abdominal surgery.

[Surgical Treatment of Ventricular Perforation and Left Lung Injury by a Permanent Pacing Lead:Report of a Case].

A 84-year-old man was diagnosed with complete atrioventricular block and underwent pacemaker implantation( PMI). Two days after the PMI, chest X-ray revealed left pneumothorax, and a chest tube was inserted. The pneumothorax did not improve, and computed tomography revealed left lung injury by the right ventricular lead. Surgical procedure through median sternotomy was performed, and the penetrated lead was removed. The injured right ventricle and left lung were repaired. Ten days after the surgical procedure, intravenous implantation of new right ventricular lead was performed. He was discharged 38 days after the surgical procedure.

[Aortic Valve Replacement Combined with Ablation for Outflow Tract Premature Ventricular Contraction:Report of a Case].

A 73-year-old woman suffered from premature ventricular contraction( PVC) which could not be controlled by medications. Holter 24-hour continuous recording electrocardiogram (Holter ECG) revealed 22,706 PVC beats/day. Upon further examination, she was found to have severe aortic stenosis and mild insufficiency. Preoperative electro-physiological study and standard 12-lead electrocardiogram revealed that the PVC originated from myocardium under the left coronary cusp. Aortic valve replacement and intraoperative cryoablation were performed. Her postoperative course was uneventful, Holter ECG revealed 638 PVC beats/day. Clinical symptons of PVC disappeared immediately after surgery. She was discharged 19 days after the operation.

Fight against fibrosis in adipose tissue remodeling.

Adipose is a key tissue regulating energy homeostasis. In states of obesity, caloric intake exceeds energy expenditure, thereby accelerating lipid accumulation with ongoing extracellular matrix (ECM) remodeling. Excess deposition of lipids and expansion of adipocytes potentially decrease ECM flexibility with local hypoxia and inflammation. Hypoxia and chronic low-grade inflammation accelerate the development of adipose tissue fibrosis and related metabolic dysfunctions. Recent research investigated that some cytokines and proteins are functional in regulating energy homeostasis, meanwhile, are potential targets to fight against adipose tissue fibrosis and insulin resistance. In this review, we focused on the regulatory mechanisms and mediators in remodeling of adipose tissue fibrosis, along with their relevance to clinical manifestations.