Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.

Incidence and Management of Thromboembolism in Patients with Acute Leukemia.

Thromboembolic events (TE) in childhood are relatively rare but, serious complications of acute leukemia. The aim was to define the incidence and risk factors of thrombosis in children with leukemias. The electronic files of pediatric denovo/relapsed acute leukemia patients aged below 18 years, treated between 2011 and 2021 were retrospectively evaluated for thrombotic attacks. Thirty out of 469 patients developed 35 thrombotic events. The median age at the time of the TE was 11.8 (2-17.6) years, and the median time from diagnosis to TE was 9 (0-58) months. The frequency of TE was found at 7.4% (n = 35/469). When catheter related (n = 13) events, superficial venous events (n = 10), and arterial central nervous system thrombosis (n = 1) were excluded, the frequency of TE was decreased to 2.3% (n = 11/469). Children older than 10 years old (13.8%; n = 21/152) had significantly higher thromboembolic events than the others (4.4%; n = 14/317) (p = 0.03). The majority of attacks were symptomatic 66% (n = 23/35). The most common complaints were local pain, swelling, and redness 52% (n = 12/23). The majority of attacks in patients with relapsed (75%; 6/8) and newly diagnosed acute lymphoblastic leukemia (40%; 10/25%) developed during the induction phase. Thrombosis recurred in 13.3% (n = 4/30) of cases more than once. Thrombotic attacks were successfully treated with low molecular weight heparin 60% (n = 21/35), and recombinant tissue plasminogen activator 17% (n = 6/35). None of the children were lost due to thrombosis. Thrombosis is an important complication during acute leukemia treatment. Successful results are obtained with early diagnosis and treatment attempts by creating awareness.

Impact of Indexed Effective Orifice Area on the Quality of Life of Patients after Aortic Valve Replacement.

BACKGROUND: Improving health related quality of life is an important goal of aortic valve replacement. Inadequate effective orifice area of prosthesis according to the patient's body surface area may be associated with poor outcomes. In this study, we aimed to analyze impact of indexed effective orifice area (iEOA) on patients' quality of life after aortic valve replacement. METHODS: A total of 138 patients who underwent isolated aortic valve replacement were included to the study. Quality of life assessment was performed with EuroQol Group EQ-5D-5L questionnaire. Patients were divided into three groups based on iEOA (Group 1 had an iEOA of <0.65 cm2/m2 (19 patients), Group 2 had an iEOA between 0.65-0.85 cm2/m2 (71 patients), and Group 3 had an iEOA of >0.85 cm2/m2). Mean EQ-5D-5L scores were compared among the groups statistically. RESULTS: Mean EQ-5D-5L scores were lower in Group 1 than in Groups 2 and 3 (Group 1: 0.72 ± 0.18, Group 2: 0.83 ± 0.20, and Group 3: 0.86 ± 0.9, p = 0.044 and p = 0.014). The EQ-5D-5L score was significantly lower in patients with a ≥20 mmHg transvalvular gradient than those with a <20 mmHg (0.74 ± 0.25 vs. 0.84 ± 0.18, p = 0.014). CONCLUSIONS: Our results show that an iEOA <0.65 cm2/m2 is significantly associated with impaired postoperative health-related quality of life. Newer generation prostheses, transcatheter valve implantation, and root enlargement techniques should be kept in mind in preoperative planning.

Successful Treatment of Central Nervous System Involvement in Posttransplant EBV-related Lymphoproliferative Disease With Intrathecal Rituximab Therapy.

The posttransplant lymphoproliferative disease is a severe cause of morbidity and mortality following allogeneic hematopoietic stem cell transplantation. Central Nervous System involvement in EBV-related PTLD is rare, and there is no standard treatment recommendation. We present our patient and discuss other previously reported cases of EBV-associated PTLD with CNS involvement.

The Evaluation of Central Venous Catheter-related Complications in Pediatric Acute Leukemia Patients: Single Center Experience.

Central venous catheters (CVCs) are important for maintenance of childhood leukemia treatment but CVCs may develop complications. The aim of this study was to retrospectively evaluate the CVC-related complication rate, complication types, and outcome in children with acute leukemia. Complications developing in 310 CVCs (ports n=250, Hickman catheters n=60) inserted in 262 patients were evaluated. A total of 225,296 catheter days were screened. Median (range) CVC in-dwelling time was 661.5 (1 to 2636) days. In total, 157 complications developed of which 91 (58%) were infectious complications, 35 (22.3%) were vascular, 19 (12.1%) were surgical, and 12 (7.6%) were mechanical. Hickman catheters had a higher complication rate and were more prone to mechanical complications ( P <0.01) but there was no difference for other complications. A lower absolute neutrophil count at insertion was observed in children with infectious complications ( P <0.01). Seventy-eight of 136 catheters (57.3%) had to be removed prematurely. The overall complication rate was 0.65 per 1000 catheter days. In multivariate analysis, relapse leukemia, Hickman catheter and low absolute neutrophil count increased complication risk by 4.00, 1.97, and 1.92 times, respectively. Five (1.9%) deaths occurred because of catheter complications. Safe use of CVCs can be improved by early detection of complications and an experienced catheter care team.

Custodiol versus Blood Cardioplegia: Comparison of Myocardial Immunohistochemical Analysis and Clinical Outcomes

ABSTRACT Introduction: Custodiol (histidine-tryptophan-ketoglutarate) and repetitive blood cardioplegia are the solutions for myocardial protection and cardiac arrest. In this study, we aimed to compare immunohistochemical analysis, clinical outcomes, and cardiac enzyme values of Custodiol and blood cardioplegia groups. Methods: This was a randomized prospective study consisting of 2 groups and 20 patients, 10 patients for each group, who underwent mitral and mitral/tricuspid valve surgery. Group 1 was formed for Custodiol cardioplegia and group 2 for blood cardioplegia. Perioperative and postoperative cardiac events were recorded, cardiac enzymes were analyzed with intervals, and myocardial samples were taken for immunohistochemical analysis. Recorded data were statistically evaluated. Results: There was no significant difference for the Custodiol and blood cardioplegia groups in perioperative and postoperative cardiac performance and adverse events. Cardiac enzyme analysis showed no significant difference between groups. However, two parameters (eNOS, Bcl-2) were in favor of the Custodiol group in immunohistochemical studies. Custodiol performed better in cellular oxidative stress resistance and cellular viability. Conclusion: Clinical outcomes and cardiac enzyme analysis results were similar regarding myocardial protection. However, Custodiol performed better in the immunohistochemical analysis.

Custodiol versus Blood Cardioplegia: Comparison of Myocardial Immunohistochemical Analysis and Clinical Outcomes.

INTRODUCTION: Custodiol (histidine-tryptophan-ketoglutarate) and repetitive blood cardioplegia are the solutions for myocardial protection and cardiac arrest. In this study, we aimed to compare immunohistochemical analysis, clinical outcomes, and cardiac enzyme values of Custodiol and blood cardioplegia groups. METHODS: This was a randomized prospective study consisting of 2 groups and 20 patients, 10 patients for each group, who underwent mitral and mitral/tricuspid valve surgery. Group 1 was formed for Custodiol cardioplegia and group 2 for blood cardioplegia. Perioperative and postoperative cardiac events were recorded, cardiac enzymes were analyzed with intervals, and myocardial samples were taken for immunohistochemical analysis. Recorded data were statistically evaluated. RESULTS: There was no significant difference for the Custodiol and blood cardioplegia groups in perioperative and postoperative cardiac performance and adverse events. Cardiac enzyme analysis showed no significant difference between groups. However, two parameters (eNOS, Bcl-2) were in favor of the Custodiol group in immunohistochemical studies. Custodiol performed better in cellular oxidative stress resistance and cellular viability. CONCLUSION: Clinical outcomes and cardiac enzyme analysis results were similar regarding myocardial protection. However, Custodiol performed better in the immunohistochemical analysis.

A rare condition secondary to aberrant right subclavian artery syndrome: Aphagia lusoria.

Dysphagia lusoria is a well-described clinical entity caused by aberrant right subclavian artery. Herein, we present a 42-yearold male case with aberrant right subclavian artery-associated aphagia and progressed to aphagia lusoria presentation. To the best of our knowledge, this is the first associated case presented with aphagia.

The effect of maternal depression symptoms on the outcomes of infant care.

PURPOSE: This study evaluated the effect of the maternal risk of depression on the outcomes of infant care. DESIGN AND METHODS: This study was conducted as a cross-sectional and analytical study with 229 mothers who had 6-month-old infants and who were enrolled in a family health center. FINDINGS: The results show that mothers at risk of depression have a negative impact on the care and growth of their infants. PRACTICE IMPLICATIONS: Providing support to the mothers is suggested for preventive infant health behaviors and monitoring their infants.

Impact of additional annuloplasty on tricuspid valve and cardiac functions after atrial septal defect closure in adults.

BACKGROUND: Surgical indications for moderate to severe tricuspid regurgitation (TR) during atrial septal defect (ASD) closure are still unclear. Additional tricuspid valve annuloplasty (TVP) can be beneficial to avoid postoperative persistent TR. Therefore, we compared the results of surgical ASD closure with or without additional TVP in patients who presented with moderate-to-severe TR. METHODS: Between November 2009 and June 2016, 103 patients with ASD and moderate-to-severe TR underwent surgical ASD closure without (n = 76, group 1) and with additional TVP (n = 27, group 2). Clinical outcomes and echocardiographic data were analyzed. RESULTS: There was no mortality. Postoperative outcomes were similar despite significantly longer aortic clamping time in group 2 (P = .003). Mean TR grade, right atrial diameter, right ventricular end-diastolic diameter, pulmonary artery pressure, and Qp/Qs ratio decreased significantly in both groups (P < .05). Mean follow-up time was 5.3 months (range: 1 month-6.2 years) in group 1 and 6.1 months (range: 1 month-4.1 years) in group 2 (P = .66). Echocardiography results showed significant decrease in TR grade in both groups (P = .93). The incidence of persistent moderate to severe TR was higher in isolated ASD closure group (14.4% vs 3.7%, P = .086). Additional TVP provided greater regression in TR grade (-1.49 ± 0.9 vs -1.89 ± 0.8, P = .041). CONCLUSION: Despite TVP being associated with longer ischemic time, postoperative outcomes were comparable to ASD closure alone. Both approach demonstrated an effective decrease in TR, but TVP provided greater regression and lower incidence of persistent TR. Therefore, additional TVP should be considered in patients undergoing ASD closure with moderate-to-severe TR.

Port-a-cath and ventriculoatrial shunt at the same atrium: technical note.

Hydrocephalus is a rare complication of brain involving acute lymphoblastic leukemia (ALL). The standard treatment is ventriculoperitoneal (VP) shunting, while ventriculoatrial (VA) shunting is the second option in a case of VP shunt failure in young children. But the presence of port catheter at the right atrium restricts and makes a VA shunt difficult to place in the same atrium. We presented a 4-year-old boy who had the diagnoses of ALL and underwent chemotherapy through a port-a-cath. He also had hydrocephalus due to the brain invasion of the ALL. He firstly underwent VP shunting for the treatment of hydrocephalus, but it failed due to an intraabdominal cyst. Then, he underwent VA shunting through the left internal jugular vein. This is the first case in the literature showing both catheters in the right atrium.

Comparison of Continuous and Interrupted Suturing Techniques in Ventricular Septal Defect Closure.

BACKGROUND: Our goal is to evaluate postoperative outcomes of continuous versus interrupted suturing techniques in ventricular septal defect (VSD) closure surgery. METHODS: The study included 286 patients with isolated VSD who underwent VSD closure surgery between June 2010 and April 2017. VSD closure was performed by using the interrupted suturing technique in group 1 (n = 74, 25.9%) and the continuous suturing technique in group 2 (n = 212, 74.1%). The groups were compared in terms of mortality and rates of clinical morbidities such as infection and complete atrioventricular (AV) block. RESULTS: Early mortality occurred in 3 cases in group 1 (4.0%) and 5 cases in group 2 (2.3%). There was no late mortality in either group. One patient from both groups required extracorporeal membrane oxygenation (ECMO) at postoperative 48 hours. Five patients in group 1 (6.8%) and 11 patients in group 2 (5.2%) developed complete AV block postoperatively and received permanent pacemaker implants. CONCLUSION: Complication rates were similar between the patient groups operated on by using continuous and interrupted suturing techniques in our study, suggesting that neither technique is superior for VSD closure surgery.

Late effects in patients with sacrococcygeal teratoma: A single center series.

INTRODUCTION: The aim of this study is to evaluate late side effects that affect quality of life in children with sacrococcygeal teratoma (SCT). PATIENTS AND METHODS: The patients with SCT were evaluated retrospectively. The data were expressed by percentage and the subgroups were compared statistically. RESULTS: A total of 40 children with SCT were identified with median age 12 days (range: 1 day-14.6 years), 27 of whom were analyzed in this study with urodynamic data available for 24 and anal manometric evaluations for 20. Chronic constipation with need for laxative was reported in (7/27) 25.9%, fecal incontinence was present in (1/27) 3.7%, and urodynamic abnormalities were reported in (16/24) 66%. Among those with urodynamic abnormalities, low bladder capacity, dyssyergia and neurogenic bladder were observed in (21/24) 87.5% and anticholinergic treatment was applied. Urinary incontinence was present in (2/27) 7%, with clean intermittent catheterization utilized in (7/27) 25.9%. While defecation was observed more in the patients with Altman types II, III, and IV, micturation problems were observed more in the patients with Altman types II and IV. It was found that urodynamic dysfunctions were more frequent in the patients with increased number of operations. DISCUSSION: Although the rate of symptomatic patients was low, abnormalities determined by radiological and urodynamic evaluations were high.

Robotic-assisted removal of an Amplatzer atrial septal occluder device for residual shunting, closure of septal defect and simultaneous tricuspid annuloplasty.

Complications after percutaneous atrial septal defect closure such as residual shunting or device-related events are generally treated using conventional sternotomy or thoracotomy incisions. In these cases, minimally invasive approaches including mini-sternotomy, mini-thoracotomy or endoscopic techniques can also be used in the management of complications, residual defects and concomitant procedures. However, robotic surgery is a reasonable alternative for removal of septal occluder devices and concomitant repair procedures to prevent cardiopulmonary morbidities. Herein, we report an adult, who underwent a totally endoscopic robotic removal of septal occluder device, closure of septal defect with autologous pericardial patch and tricuspid valve annuloplasty through a right atriotomy approach.

A prospective follow-up of quality of life, depression, and anxiety in children with lymphoma and solid tumors

Background/aim: The aim of this study was the determination and prospective follow-up of quality of life, depression, and anxiety in pediatric patients with cancer under chemotherapy, as well as the evaluation of related factors. Materials and methods: Fifty newly diagnosed pediatric cancer patients and their parents were prospectively monitored before, during, and after therapy, and tests were used. Results: Significantly lower quality of life scores were recorded during treatment, in the group with CNS tumors, in the group receiving chemotherapy plus radiotherapy plus surgery, in the inpatient-only treatment group, in the group receiving treatment for longer than 6 months, and in the group of patients whose diagnosis was delayed for more than 3 months. Total quality of life scores for children and their parents were 82.95 ± 14.59 vs. 83.61 ± 14.60 before, 54.69 ± 16.51 vs. 55.78 ± 16.05 during, and 83.88 ± 12.44 vs. 84.19 ± 13.22 at the end of treatment (P < 0.05). Anxiety and depression scores were significantly higher during treatment, in patients whose diagnoses were delayed for more than 3 months, and among inpatients. Conclusion: The quality of life of a majority of our patients was severely affected, and depression and anxiety were more frequently seen especially during treatment.

Leptomeningeal dissemination and vertebral bone involvement in a child with pilocytic astrocytoma.

In low-grade glioma, metastasis is rarely seen. Few cases of leptomeningeal dissemination have been reported in children. Vertebral bone metastasis has not been reported so far. Herein is described the case of a pediatric patient with the diagnosis of pilocytic astrocytoma, and leptomeningeal dissemination detected at the time of diagnosis, who then received radiotherapy and chemotherapy upon development of vertebral bone metastasis during treatment.

The Preventive Effects of Posterior Pericardiotomy with Intrapericardial Tube on the Development of Pericardial Effusion, Atrial Fibrillation, and Acute Kidney Injury after Coronary Artery Surgery: A Prospective, Randomized, Controlled Trial.

BACKGROUND: Pericardial effusion (PE), atrial fibrillation (AF), and acute kidney injury (AKI) are commonly found after coronary artery surgery. These adverse events may also be interwoven in the postoperative period. In this prospective study, we investigated whether posterior pericardiotomy (PP) with intrapericardial tube positioned along the right atrium (pericardial space intervention) is effective in the prevention of these adverse events. METHODS: The patients were randomly distributed to the study and control groups. The study group consisted of patients with pericardial space intervention, whereas the control group consisted of patients without pericardial space interventions. In all patients, a straight tube was placed in the anterior mediastinum and an angled tube was placed into the left hemithorax. RESULTS: A total of 210 patients were studied: 107 in the control group and 103 in the study group. Statistically significant results were obtained in the amount of PE, cardiac tamponade, AF (p = 0.019), and AKI during the postoperative period, in favor of the study group. Length of hospital stay was significantly shorter in the study group (6.11 ± 2.31, p = 0.009). CONCLUSION: The PP with intrapericardial tube approach is safe, easy, and effective in the prevention of PE, cardiac tamponade, and AF. The use of this approach may reduce the risk of developing AKI during the postoperative period. Besides, this technique also reduces the length of hospital stay.