Case report of mild TCIRG1-associated autosomal recessive osteopetrosis in Vietnam.

Autosomal recessive osteopetrosis (ARO) is a group of disease characterized by osteoclast dysfunction inhibiting bone resorption and bone turnover, with TCIRG1-associated ARO being more common leading to autosomal recessive infantile malignant osteopetrosis (OPTB1, MIM entry number # 259700). While most patients with TCIRG1-associated osteopetrosis present a malignant clinical course and shortened lifespan, a few cases of non-malignant TCIRG1-associated osteopetrosis have been reported. 24-year-old female patient came to us with limp gait, hip pain in both sides, and severe stiffness. She had suffered many fractures, bilateral hip osteoarthritis, right leg was 2 cm shorter compared with left leg. Whole Exome Sequencing was conducted, the result and subsequent Sanger's sequencing shown the patient had a compound heterozygous genotype at TCIRG1 (c.1194dup, p.Gly399ArgTer and c.334G>A, p.Gly112Arg), these two variants found were not previously reported. Sanger's sequencing revealed two other siblings whom suffer the same disorder had similar genotype to the proband; the parents were found to be heterozygous. This is the first case of TCIRG1-associated osteopetrosis reported in Vietnam and one of the few cases of nonmalignant TCIRG1-associated osteopetrosis, in which detailed clinical and genetic work-up were performed.

ELN missense variant in patient with mid-aortic syndrome case report.

BACKGROUND: Mid-aortic syndrome (MAS) is characterized by the congenital coarctation of the abdominal aorta, abdominal and limb claudication, and hypertension. The etiology of this disorder is very diverse and often manifests in conjunction with Takayasu's arteritis, Williams-Beurens syndrome, and neurofibromatosis. The isolated mid-aortic syndrome is very rare with only a few cases reported in the literature. CASE PRESENTATION: A 45 years old man was admitted to the Emergency Department with sudden muscle weakness and facial paralysis on the left side. Imaging studies reveal right middle cerebral artery infarction at the M1 section. Incidental findings include multiple moderate to severe stenoses in the right internal carotid artery, and total abdominal aorta occlusion. A variant at the ELN gene (Elastin, OMIM*130,160): c.1768G > A/wt (p.Ala590Thr) was identified. CONCLUSION: This is the first reported case of ELN related mid-aortic syndrome in Vietnam which was diagnosed through careful clinical and genetic workup. The finding of mid-aortic syndrome, in this case, was incidental and the decision to reverse the occlusion was postponed as there was no immediate risk of renal failure or reduced blood flow to the lower limb.

Dental Trauma in a Pediatric Emergency Department Referral Center.

OBJECTIVE: The purpose of this study was to describe dental and associated oral injuries in a pediatric population that presents to an emergency department. METHODS: We performed a retrospective study and identified children from January 2007 to September 2011. Charts were reviewed for any subject, age from newborn to younger than 19 years, based on International Classification of Diseases, Ninth Revision codes for any dental or oral injury. Data abstraction included demographics, time of day of presentation, location and identification of tooth (s) injured, management, and disposition. RESULTS: We identified 108 children with dental and if present, associated oral injuries. The median age was 12.3 years, the most common tooth injured were the primary (25.9%) or permanent (62%) upper central incisors, and the majority of subjects presented in the afternoon (mean time was 3:50 PM, SD ±24 minutes). A large proportion of dental injuries occurred in patients with permanent dentation (62%) and half of all children had more than 1 tooth injury. The majority of children (75%) were evaluated by either pediatric dental, oral surgery, or otolaryngology services, whereas 3.7% of the cases required multiple services. Twenty-five percent of children had an associated jaw fracture. Eighty-three percent of children were discharged home, of those, 49.1% were prescribed opioids, and 38.3% oral antibiotics. CONCLUSIONS: Emergency departments are often relied upon to evaluate and treat simple and complex dental and oral injuries. The ability to use a multidisciplinary team to manage pediatric oral and dental trauma is essential for care.

Bidirectional Glenn operation without cardiopulmonary bypass: Single center experience and results.

BACKGROUND: The bidirectional Glenn (BDG) shunt operation serves as temporary surgery for the treatment of single-ventricle physiology with the eventual Fontan procedure. In some cases, the procedure can be performed without the support of a cardiopulmonary bypass (CPB) machine. In this study, we present the surgical outcomes of off-pump BDG operation with the use of a temporary veno-atrial shunt to decompress the superior vena cava (SVC) during clamping time. METHODS: A cohort of 23 patients underwent off-pump BDG operations at Cardiovascular Center, E Hospital. All patients were operated on using a veno-atrial shunt to decompress the SVC. RESULTS: Satisfactory results with mean oxygen saturation increased from 79.6 ± 11.2% to 87.2 ± 4.7%. The SVC clamping time was 14 ± 2.4 min (ranging from 12 to 21 min). Among 23 patients, only six patients required blood transfusion, 17 patients had BDG without blood transfusion. No neurological complications or deaths occurred after the surgery, and the post-operative period was uneventful. CONCLUSIONS: The use of veno-atrial shunts to decompress SVC during off-pump BDG operation is safe with good surgical outcomes and can avoid the deleterious effects caused by CPB. It is easily reproducible, at low cost and economically effective.

Results of Vertical Infra-Axillary Thoracotomy for Total Repair of Tetralogy of Fallot.

OBJECTIVE: To demonstrate the efficacy of minimally invasive surgery via a vertical infra-axillary incision for complete tetralogy of Fallot (TOF) correction. METHODS: In a study conducted from April to October 2023, 33 patients with TOF underwent total repair using this approach. On average, the patient age was 5.94 ± 2.68 months, weight was 6.49 ± 0.97 kg, and mean z-score index for the pulmonary valve annulus was -1.38 ± 0.92. Results also highlighted abnormal coronary artery pathways in 18.2% of cases, including 1 patient with dextrocardia and situs inversus. RESULTS: The average incision length was 4.01 ± 0.6 cm, with bypass and clamping times of 95.42 ± 33.19 min and 69.24 ± 28.15 min, respectively. Preservation of the pulmonary valve annulus was achieved in 67% of patients. No postoperative deaths occurred, and there were no significant ventilation differences between groups. After surgery, no severe pulmonary valve regurgitation was observed, with patients remaining in excellent condition throughout the 7-month follow-up. The pulmonary valve pressure gradient after the procedure was 23.97 ± 10.65 mm Hg, and no heart failure cases were reported per the Ross classification at the latest follow-up. CONCLUSIONS: The vertical infra-axillary incision approach for total TOF repair is safe, effective, and cosmetically advantageous.

Total femur replacement in a patient with chronic persistence osteomyelitis - A case report.

INTRODUCTION AND IMPORTANCE: Total femoral replacement (TFR) is a salvage surgical procedure that has been indicated mainly for oncologic indication to avoid lower limb amputation but has recently been indicated for non-oncological disorders. CASE PRESENTATION: We report the case of a 63-year-old male with chronic osteomyelitis of the left femur, severe pain and bone deformation, the risk of amputation in this patient was very high. The patient underwent total femur replacement (TFR) with a modular mega-prosthesis. TFR was conducted in two phases. The first one consists of femur resection followed by placement of antibiotic cement; and the second operation was performed after 7 weeks, in which a modular mega-prosthesis was implanted. After a 2-month rehabilitation period, the patient recovered basic ambulation without any complaint of pain or detectable residual infection. The 1-year follow-up was uneventful, with no residual pain or infection. The patient retains normal ambulation and daily function. CLINICAL DISCUSSION: Chronic persistent osteomyelitis is a hard to manage non-neoplastic disorder that leads to amputation in severe cases. In such patients, TFR would be considered as a salvage therapy that could preserve the patient's anatomical integrity and ambulation. CONCLUSION: To the best of our knowledge, this is the first case of TFR for treatment of chronic persistent osteomyelitis in Vietnam. While TFR are still mainly indicated for oncology patients, TFR is anticipated to be performed more frequently for non-oncological disorders where there are extensive femoral bone loss and risk of amputation.

White out left hemithorax: A chronic expanding hematoma after blunt chest trauma.

A chronic expanding hematoma of the chest is rare after blunt chest trauma. Chest radiography and computed tomography showed a huge mass with focal calcification within the mass. Surgical removal is the main treatment for thoracic hematomas.

Tetralogy of Fallot With Dextrocardia and Anomalous Coronary Artery: A Case Report.

We report a rare case of tetralogy of Fallot with dextrocardia and anomalous coronary artery. Although this is an unusual complex disease, we have successfully repaired it with a combination of transatrial/transpulmonary and trans-right ventricle techniques.

Bicuspid reconstruction surgery in a patient suffering from aortic valve infective endocarditis with annular abscess using Ozaki's procedure: A case report.

INTRODUCTION: Aortic valve infective endocarditis with annular abscess is associated with high mortality rate and surgery is usually the choice of treatment. Plasty or reconstruction of aortic valve is being performed more widely. PRESENTATION OF CASE: We report a case study of a 56-year-old male who was diagnosed with congenital bicuspid aortic valve, severe aortic stenosis and regurgitation, and annular abscess. This patient underwent operation in december 2019 and Ozaki's procedure was used to measure the distance between two commissures to reconstruct new leaflets and close the abscess using autologous pericardium. A bicuspid valve was reconstructed based on the anatomical feature of the patient. 6 months after surgery, aortic valve function was good with no residual insufficiency, maximum gradient was 8 mmHg. DISCUSSION: Reconstruction of aortic valve by Ozaki's procedure has been reported with many advantages for the patient. In case of infectious endocarditis, this technique helps avoid the use of artificial materials. Bicuspid aortic valve reconstruction surgery following the novel methods of reconstructing three leaflets or maintaining the bicuspid morphology could both be performed with good results. CONCLUSION: Reconstruction of aortic valve by Ozaki's procedure in infectious endocarditis has good results. In case of true bicuspid aortic valve, reconstruction bi-leaflets can be performed.

Reduction of paediatric head CT utilisation at a rural general hospital emergency department.

BACKGROUND: Blunt head injury is a common pediatric injury and often evaluated in general emergency departments. It estimated that 50% of children will undergo a head computed tomography (CT), often unnecessarily exposing the child to ionizing radiation. Pediatric academic centers have shown quality improvement (QI) measures can reduce head CT rates within their emergency departments. We aimed to reduce head CT utilization at a rural community emergency department. METHODS: Children presenting with a complaint of blunt head injury and were evaluated with or without a head CT. Head CT rate was the primary outcome. We developed a series of interventions and presented these to the general emergency department over the duration of the study. The pre and intervention data was analysed with control charts. RESULTS: The preintervention and intervention groups consisted of 576 children: 237 patients with a median age of 8.0 years and 339 patients with a median age of 9.00 years (p=0.54), respectively. The preintervention HCT rate was 41.8% (95% CI 35.6% to 48.1%) and the postintervention rate was 27.7% (95% CI 23.3% to 32.7%), a decrease of 14.1% (95% CI 6.2% to 21.9%, p=0.0004). During the intervention period, there was a decrease in HCT rate of one per month (OR 0.96, 95% CI 0.92 to 1.00, p=0.07). The initial series of interventions demonstrated an incremental decrease in HCT rates corresponding with a special cause variation. CONCLUSION: The series of interventions dispersed over the intervention period was an effective methodology and successfully reduced HCT utilisation among children with blunt head injury at a rural community emergency department.

Chronic contained abdominal aortic aneurysm rupture causing vertebral erosion.

Erosion of vertebral bodies by an abdominal aortic aneurysm is extremely rare. Chronic contained rupture can cause difficulties in diagnosis because there are many clinical presentations: back pain, sciatic pain, or an expansive abdominal mass. Computed tomography is the gold-standard diagnostic tool. We report the case of a 49-year-old man who suffered from back pain because of a chronic ruptured aortic aneurysm.

St Elevation Myocardial Infarction in a Patient with an Anomalous Right Coronary Artery Originating from the Distal Left Circumflex.

A single coronary artery (SCA) is a rare congenital anomaly that occurs in isolation without associated structural heart disease. Reports of a SCA with acute myocardial infarction are very rare in medical literature. This case study examines a patient with a right coronary artery that originated as a branch of the distal left circumflex artery, which had a total occlusion.

The Effects of Adipocytes on the Regulation of Breast Cancer in the Tumor Microenvironment: An Update.

Obesity is a global pandemic and it is well evident that obesity is associated with the development of many disorders including many cancer types. Breast cancer is one of that associated with a high mortality rate. Adipocytes, a major cellular component in adipose tissue, are dysfunctional during obesity and also known to promote breast cancer development both in vitro and in vivo. Dysfunctional adipocytes can release metabolic substrates, adipokines, and cytokines, which promote proliferation, progression, invasion, and migration of breast cancer cells. The secretion of adipocytes can alter gene expression profile, induce inflammation and hypoxia, as well as inhibit apoptosis. It is known that excessive free fatty acids, cholesterol, triglycerides, hormones, leptin, interleukins, and chemokines upregulate breast cancer development. Interestingly, adiponectin is the only adipokine that has anti-tumor properties. Moreover, adipocytes are also related to chemotherapeutic resistance, resulting in the poorer outcome of treatment and advanced stages in breast cancer. Evaluation of the adipocyte secretion levels in the circulation can be useful for prognosis and evaluation of the effectiveness of cancer therapy in the patients. Therefore, understanding about functions of adipocytes as well as obesity in breast cancer may reveal novel targets that support the development of new anti-tumor therapy. In this systemic review, we summarize and update the effects of secreted factors by adipocytes on the regulation of breast cancer in the tumor microenvironment.

Whole exome sequencing revealed a pathogenic variant in a gene related to malignant hyperthermia in a Vietnamese cardiac surgical patient: A case report.

INTRODUCTION: Malignant hyperthermia (MH) is a rare autosomal dominant pharmacogenetic disorder which known associated with some genes such as CACNA1S and RYR1. Using whole exome analysis, we aimed to find out the genetic variant data in a malignant hyperthermia patient undergoing cardiac surgery. PRESENTATION OF CASE: Patient was 59 years old male with dull left chest pain, mild breathing difficulty, thrombosis in the left atrium, mitral valve stenosis that needed a surgery to remove the thrombus and replace the mitral valve. After 5-h operation of left mitral heart valve replacement using both intravenous and inhaled anaesthetics, the patient showed suddenly hyperthermia (39.5 °C), low blood pressure (90/50 mmHg), heavy sweating, 1 mm dilated pupils on both sides, positive light reflection. Whole exome analysis showed 96,286 of SNPs including 11,705 of synonymous variants, 11,388 of missense variants, 106 of stop gained, and 39 of stop lost. One variant of RYR1 gene was found as mutation point at c.7048G > A (p.Ala2350Thr) known related to MH. DISCUSSION: This was a rare case of MH during cardiac surgery reported in Vietnam that might related to mutation point at c.7048G > A (p.Ala2350Thr) of RYR1 gene. CONCLUSION: Patient carried a mutant of RYR1 gene could possibly lead to MH development post anaesthesia of cardiac surgery.

Superior Cavopulmonary Anastomosis in Patients With Bilateral Superior Caval Veins: Use of a Rolled Pericardial Graft to Create a Single Caval Vein.

We propose a new surgical technique for superior cavopulmonary anastomosis in patients with functionally univentricular heart and bilateral superior caval veins. One of the reasons for failure of bidirectional Glenn shunts in patients with bilateral superior caval veins is the small caliber of one or both veins, with limited flow through each cavopulmonary anastomosis that can easily result in torsion, blockage, or clot formation. The conversion of two small superior caval veins into a single confluence which is large enough to connect with the pulmonary artery (PA) can resolve this problem. We present our experience with two cases in which a rolled pericardial graft was used to create a single caval vein to provide balanced pulmonary blood flow and yield growth of the central PA as well as reducing the likelihood of thrombus formation.