Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance.

Dietary lipid manipulation has recently been proposed for managing glycogen storage disease (GSD) type IIIa. This study aimed to evaluate the myopathic, cardiac, and metabolic status, physical activity, growth, and dietary compliance of a personalized diet high in protein and fat for 24 months. Of 31 patients with type IIIa GSD, 12 met the inclusion criteria. Of these, 10 patients (mean age 11.2 ± 7.4 years) completed the study. Patients were prescribed a personalized high-protein, high-fat diet, comprising 3.0-3.5 g/kg/day of protein and 3.0-4.5 g/kg/day of fat, constituting 18.5%-28% and 70.5%-75.7% of daily energy, respectively. Dietary compliance was ensured and assessed via the regular administration of questionnaires. Our results revealed consistent and significant decreases of 22%, 54%, and 30% in the creatinine kinase, creatine kinase-myocardial band, and lactate dehydrogenase levels, respectively. Echocardiography revealed improvements in the Z-scores of the left ventricular mass and interventricular septum thickness. A significant increase in body muscle mass was observed, and a higher score was achieved using the Daily Activity Questionnaire. Growth monitoring revealed an arrest in the height-SDS at the 6th and 12th months, followed by subsequent improvement at the end of the second year. A gradual and persistent decline in the periods of hypo- and hyperglycemia has been reported. Biotinidase activity decreased, whereas hepatosteatosis increased and then decreased by the end of the study. Implementing a high-protein, high-fat diet and monitoring key parameters in patients with type IIIa GSD can lead to myopathic and cardiac improvements and increased physical activity.

Arrhythmias in children undergoing orthotopic heart transplantation.

Introduction: Heart transplantation (HT) is the only treatment option in children with heart failure secondary to cardiomyopathies and non-reparable congenital heart diseases. Methods: We performed a retrospective clinical data review of all consecutive pediatric patients (aged 2-18 years) who underwent orthotopic HT for advanced heart failure at our institution between January 2007 and January 2023. Clinical, procedural, and follow-up data were collected and comprehensively analyzed. Results: We identified 27 children (66.7% males) with a median age of 15 years (IQR: 7-16) and a median weight of 45 kg (IQR: 22-66) at the time of the intervention. 24 patients (88.8%) were diagnosed with dilated cardiomyopathy, 2 (7.4%) with restrictive cardiomyopathy, and 1 (3.7%) with hypertrophic cardiomyopathy. On a median follow-up of 35.07 months (IQR: 13.13-111.87), arrhythmias were detected in 9 (33%) patients. Three patients developed symptomatic sinus node dysfunction at 18, 25, and 38 days and received permanent pacemakers. One patient developed a complete AV block during acute rejection at 76 months and received a temporary pacemaker. Two patients developed chronic sinus tachycardia at 4 and 16 months and were treated with Beta-blockers after eliminating all causes of sinus tachycardia. One patient developed a complete right bundle branch block at 12 months. One patient developed ventricular extrasystole at 10 months and was found to have grade 2 rejection. An Atrial extrasystole was detected in one patient at 96 months. We did not identify significant risk factors for arrhythmias post-HT. Discussion: After pediatric HT, early-onset rhythm disturbances, often attributed to surgery-related issues such as sinus node dysfunction, may necessitate invasive treatments like permanent pacemaker therapy. Close monitoring post-transplantation is crucial, and routine follow-up with Holter ECG is necessary to identify potential rhythm disorders even in the absence of symptoms. Rhythm disturbances that develop during follow-up can serve as early indicators of graft rejection and should be carefully evaluated.

Association between caregivers' coping and children's psychiatric symptoms in the heart transplantation process: A pilot study.

Our aim was to investigate whether there is an association between caregivers' coping and children's psychiatric symptoms and quality of life in adolescent heart transplant (HTx) recipients and HTx candidates with left ventricular assist device (LVAD). Fourteen patients were recruited for this pilot study (HTx (n = 8), LVAD (n = 6)). Schedule for Affective Disorders and Schizophrenia for School Aged Children, Present and Lifetime Version (K-SADS) was administered to detect the psychiatric diagnosis of patients. Children's Depression Inventory (CDI), State-Trait Anxiety Inventory, and Pediatric Quality of Life Inventory (PedsQL) were completed by adolescents; Brief Coping Styles Inventory by their caregivers. Six of the participants had an internalizing disorder. Optimistic coping strategy score was significantly higher in the caregivers of adolescents without an internalizing disorder than caregivers of those with an internalizing disorder (U = 2.500, P = .005). Utilizing Spearman's correlation, caregivers' optimistic approach (rho = -0.736, P = .004), and self-confident approach (rho = -0.634, P = .020) had significant negative correlations with children's CDI scores. Moreover, caregivers' optimistic approach score had a significant positive correlation with children's PedsQL score (rho = 0.563, P = .045). According to our preliminary results, it seems that caregivers' optimistic and self-confident coping strategies may be associated with fewer internalizing symptoms and a better quality of life in adolescents in the HTx process. A future multicentered longitudinal study will be planned to assess the effect of caregivers' coping strategies on the psychological adjustment of these children.

Infections in children with left ventricular assist device.

BACKGROUND: There are limited data about pediatric left ventricular assist device (VAD) infections in developing countries. This study aimed to investigate device postimplantation infectious complications and their pathogenic profile. METHODS: Data were analyzed from patient charts involving 27 patients with dilated cardiomyopathy who underwent left VAD implantation at a leading tertiary care center in Turkey. RESULTS: The study included 17 boys and ten girls with a median age of 12.22 years (range 17 months to 18 years). Nineteen patients were diagnosed with idiopathic, and three were diagnosed with familial dilated cardiomyopathy. Twenty-two out of 27 subjects (%81.48) developed 80 infection episodes in total. The most common type of left VAD-specific infection was the exit site of the driveline. Infected patients with left VAD had a significantly prolonged hospitalization compared with the patients without infection (P = .014). Infection-induced pediatric intensive care unit (ICU) admission was higher in patients with fungal infection(P = .023). Gram-positive staphylococci were the most commonly isolated bacterial pathogens, followed by Gram-negative bacteria. Five patients developed fungal infections. None of the fungal infection patients underwent transplantation(P = .035). Seven deaths occurred in our study group. All deaths were in the infected group. Mortality was associated with the presence of multidrug-resistant Gram-negative bacterial infections (P = .015), an increased number of infection episodes (P = .003), and hospitalization due to infection (P = .003). CONCLUSION: Ventricular assist device-related infections were frequent among our study patients. The predominantly isolated agents were Gram-positive bacterial pathogens. However, the emergence of relatively high rate of Gram-negative bacterial and fungal infections was associated with mortality before the transplantation. Establishing local programs for surveillance data, controlling for infection rates, and antibiotic stewardship are essential to reduce mortality of VAD patients in developing countries.

The serial changes of perfusion index in preterm infants with patent ductus arteriosus: is perfusion index clinically significant?

BACKGROUND: Perfusion Index (PI) which reflects the peripheral blood flow may help early detection and treatment decision of hemodynamically significant patent ductus arteriosus (hsPDA) in preterm infants. The present study is designed to analyze the usefulness of PI level in early detection of hsPDA in preterm infants. METHODS: Preterm infants born before 36 gestational weeks were assessed for PI and simultaneous echocardiography. Based on echocardiography, each infant is categorized into no-PDA (group 1), non-hsPDA (group 2) and hsPDA (group 3). Heart rate (HR), mean arterial pressure (MAP), body temperature and oxygen saturation (SpO2) and concomitant PI were measured on days 1, 2, 3 and 4. RESULTS: In all preterm infants (N.=42) PI significantly increased from 0.7 on day 1 to 1.4 on day 4. The HR did not change by the days; however, the MAP increased on days 3 and 4 compared to day 1. In hsPDA group, the median PI was 0.7 (IQR, 0.4) on day 1 compared to 0.9 (IQR, 0.2) on day 2. PI is significantly lower in hsPDA group compared to no-PDA group on day 1 and 2; however, this difference disappeared at 48 hour on the intravenous ibuprofen treatment (on day 3 and 4). CONCLUSIONS: PI may predict the perfusion disorder and help to decide for treatment of hsPDA and was also helpful to monitor the response to treatment in hsPDA patients.

Treatment of Congenital Complete Atrioventricular Heart Block With Permanent Epicardial Pacemaker in Neonatal Lupus Syndrome.

INTRODUCTION: Neonatal lupus syndrome (NLS) is a passively acquired autoimmune condition due to the transplacental passage of maternal anti-Ro/SSA and anti-La/SSB antibodies in mothers with systemic lupus erythematosus (SLE), and congenital complete heart block (CHB) is its most serious manifestation. Skin and hepatic involvement may occur in later infancy. CASE PRESENTATION: A term infant with fetal bradycardia, detected at the 23rd gestational age, was diagnosed with CHB due to NLS and was successfully treated with a permanent epicardial pacemaker. The patient was reported here due to rarity of the procedure in neonatal period. CONCLUSIONS: Mothers with SLE should be screened and closely followed up during pregnancy for the development of fetal atrioventricular (AV) block.

New era of pediatric ventricular assist devices: let us go to school.

As there is still a shortage of pediatric donor hearts, several techniques have been used to assist pediatric patients to survive until transplantation. VADs provide long-term support and ability of mobilization for children before a suitable heart becomes available. Several devices such as paracorporeal pumps have been used for this purpose, with acceptable morbidity and mortality rates. However, discharge is not possible, as there is no mobile drive unit for these small-sized pumps. The possible negative psychosocial impact of long-term hospitalization, away from home and school, may cause some adjustment problems in the future. In this case series, three pediatric patients that underwent intracorporeal LVAD implantation and returned to school are presented to share clinical experience and also to attract attention to the potential social and psychiatric implications.

Abdominal aortic stiffness as a marker of atherosclerosis in childhood-onset asthma: a case-control study.

BACKGROUND: Asthma is one of the chronic inflammatory diseases. It is known that chronic inflammation accelerates atherosclerosis. Abdominal aortic stiffness parameters can be used to detect the early development of atherosclerosis. AIM: In this study, we aimed to evaluate abdominal aortic stiffness parameters in childhood-onset asthma compared with a control group. METHODS: In this cross-sectional, case-control study, we evaluated 50 patients with childhood-onset asthma, and 57 healthy children as controls. Patients with a diagnosis of asthma of at least three years' duration were included in the study. Children with hypertension, hyperlipidaemia, diabetes, a history of smoking contact, or systemic disease were excluded. The study and control groups were evaluated with transthoracic echocardiography, and abdominal aorta diameters were measured. Using the measured data, abdominal aortic stiffness parameters (aortic distensibility: DIS, aortic strain: S, pressure strain elastic modulus: Ep, and pressure strain normalised by diastolic pressure: Ep*) were calculated. Statistical evaluation was done with the Student's t-test, chisquared test and Pearson's correlation test. RESULTS: The study group consisted of 50 children (24 female, 26 male) with asthma. According to the GINA guidelines, 26 of the patients had mild intermittant asthma, six had mild persistent asthma and 18 had intermediate persistent asthma. None of the patients had severe asthma. In 37 of the asthma patients, spIgE was positive and these patients were accepted as having atopic asthma; 27 of these patients received immunotherapy. We did not detect any differences between the study and control groups in terms of gender, age and body mass index. No differences were evident between the groups with regard to systolic and diastolic blood pressure, heart rate, blood cholesterol levels and respiratory function test parameters. There was no difference between the asthma and control groups in the measurement of abdominal aortic stiffness parameters. There was no significant correlation between aortic stiffness parameters and high-sensitivity C-reactive protein, blood total cholesterol, LDL cholesterol and HDL cholesterol levels. CONCLUSION: We did not find any difference between the asthma patients and control group with regard to aortic stiffness parameters (DIS, S, Ep and Ep*) and there was no difference in these parameters when we compared patients with mild asthma with those with moderate asthma. These results may be due to the anti-inflamatory effect of inhaled steroids. Further studies are needed to validate these results.

Medical closure of patent ductus arteriosus does not reduce mortality and development of bronchopulmonary dysplasia in preterm infants.

BACKGROUND: Although, patent ductus arteriosus (PDA) is associated with significant morbidity due to hemodynamic instability in preterm infants, the effect of ductus closure on mortality and morbidity is a controversial issue. The aim is to evaluate the efficacy of oral and intravenous (IV) ibuprofen treatment on ductal closure and effects on mortality and bronchoplumonary dysplasia. MATERIALS AND METHODS: The medical records of 292 premature infants treated at Ege University Neonatal Intensive Care Unit were retrospectively evaluated. Patients were classified into 3 groups as; No PDA, hemodynamically insignificant PDA (hiPDA) and hemodynamically significant PDA (hsPDA) according to the presence and hemodynamical significance of PDA by echocardiography. hsPDA group was treated with IV or oral ibuprofen. RESULTS: Patent ductus arteriosus was diagnosed by routine echocardiography in 145 patients, of whom 78 (53.7%) had hsPDA. All 65 infants with hiPDA had spontaneous PDA closure. Echocardiographic measurements were similar to those patients treated with oral or IV ibuprofen, as in the response rate to treatment without serious adverse effects. The presence of respiratory distress syndrome, surfactant therapy, late sepsis, bronchopulmonary dysplasia (BPD) and mortality rates were significantly higher in patients with hsPDA. However, with stepwise logistic regression; 5(th) min Apgar score (odds ratio [OR], 1.321, 95% confidence interval [CI], 1.063-1.641, P = 0.012) and gestational age (OR, 1.422, 95% CI, 1.212-1.662, P < 0.001) were the only significant variables associated with mortality. Gestational age (OR, 0.680, 95% CI, 0.531-0.871, P = 0.002) was the only significant variable associated with BPD shown with logistic regression. CONCLUSION: Ibuprofen treatment is effective for hsPDA closure with minimal side effects. HiPDA can close spontaneously; therefore treatment decision should be individualized. However, medical treatment of PDA does not reduce mortality and BPD.

Percutaneous retrieval of a chronic catheter fragment from the left ventricle in a child.

Embolization of a catheter fragment is a very rarely seen complication, and few cases have been reported in children. Catheter fragments must be urgently extracted due to life-threatening complications. Most catheter fragments are removed very soon after being lost in the cardiovascular system, including the venous system and right side of the heart. In our report, we describe a child with catheter fragment, which was removed from the left ventricle 32 days after embolization. This catheter fragment was successfully retrieved percutaneously using a gooseneck snare catheter through the femoral artery.

Psychiatric evaluation of children and adolescents with left ventricular assist devices.

OBJECTIVES: To evaluate the psychiatric symptoms of children equipped with a ventricular assist device (VAD) and follow them up for 6 months. With the shortage of donor hearts available for the treatment of end-stage heart failure, VADs have been used to provide temporary treatment until a heart becomes available. VADs provide external sources of power for mechanical circulatory support and are capable of sustaining life over weeks and months. This study provides preliminary details about the psychiatric symptoms and disorders of the first eight children equipped with a VAD in Turkey. METHODS: Eight pediatric patients who recently underwent VAD implantation, aged 1 to 16 years, were evaluated using the Kiddie Schedule for Affective Disorders and Schizophrenia, Child Behavior Checklist, Children's Depression Inventory, Beck Depression Inventory, and State-Trait Anxiety Inventory for Children and followed up for 6 months. RESULTS: In the first evaluation, five participants had a psychiatric disorder diagnosis. Two patients had adjustment disorder with depressive and anxiety symptoms; one had anxiety disorder, not otherwise specified; and two had major depressive disorder. The anxiety and depressive symptom levels in questionnaires were consistent with psychiatric diagnoses. Two patients had heart transplantation during the follow-up period. CONCLUSIONS: To determine and treat psychiatric symptoms and disorders at an earlier stage, it is important for children and adolescents with a VAD and those who have undergone heart transplantation to be evaluated by a multidisciplinary consultation liaison team including psychiatrists, psychologists, consultant nurses, and counselors.

Elastic properties of the abdominal aorta in the children with bicuspid aortic valve: an observational study.

OBJECTIVE: Abnormalities of the aortic root and ascending aorta are common in patients with a bicuspid aortic valve (BAV). The aim of this study was to evaluate the stiffness of the abdominal aorta in children with BAV. METHODS: In this cross-sectional observational study, we evaluated 35 children with normally functioning or mildly regurgitant BAV and 35 healthy children as controls. All children were noninvasively evaluated with transthoracic echocardiography. Annulus of aorta and abdominal aorta diameters were measured. Aortic strain (S), pressure strain elastic modulus (Ep), pressure strain normalized by diastolic pressure (Ep*), aortic stiffness ß index (ßSI) and, aortic distensibility (DIS) were calculated using the measured data. In evaluation of the data Student's t-test, Chi-square test, Pearson's correlation and multivariate linear regression analysis were used. RESULTS: Diameter of the aortic annulus was found significantly larger in the children with BAV than the control group (p<0.05). The abdominal aorta systolic and diastolic diameters were similar in the two groups (p>0.05). The children with BAV exhibited significantly lower S (0.210 ± 0.04/0.267 ± 0.07, p<0.001) and DIS (1.04 ± 0.2/1.4 ± 0.4 10(-6) cm(2) dyne(-1), p<0.001); and higher Ep (200 ± 39/153 ± 47 N/m(-2), p<0.001), Ep* (3.42 ± 0.9/2.5 ± 0.9, p<0.001) and ßSI (1.1 ± 0.3/0.84 ± 0.3, p<0.001) than the control group. There was no correlation between the systolic and diastolic diameters of abdominal aorta and aortic elasticity parameters (p>0.05). CONCLUSION: Bicuspid aortic valve is associated with an increased abdominal aortic stiffness in children. However, impaired abdominal aortic elasticity is not due to abdominal aortic dilatation. These findings require validation by further studies.

A rare cause of recurrent stroke in childhood: left atrial rhabdomyosarcoma.

UNLABELLED: We present a case of recurrent stroke secondary to cardiac rhabdomyosarcoma. The detected prothrombotic mutations at the first attack had seemed to be the main cause, but the echocardiography performed at the recurrence revealed the actual underlying cause of stroke. CONCLUSION: The aetiological investigation into childhood stroke should absolutely include echocardiography regardless of the presence of other risk factors.

Eponym. Scimitar syndrome.

Scimitar syndrome is a rare congenital anomaly, characterized by partial or complete anomalous pulmonary venous drainage of the right or left lung into the inferior vena cava. The syndrome is commonly associated with hypoplasia of the right lung, pulmonary sequestration, persisting left superior vena cava, and dextroposition of the heart. The pathogenesis of the syndrome is unclear, but it seems to originate from a basic developmental disorder of the entire lung bud early in embryogenesis. Two main forms of scimitar syndrome have been described. Signs and symptoms can start during infancy (infantile form) or beyond (childhood/adult form). The infantile form generally presents within the first 2 months of life with tachypnea, recurrent pneumonia, failure to thrive, and signs of heart failure. The diagnosis of scimitar syndrome is usually made based on the characteristic chest X-ray films and can be confirmed by angiography; however, it is now done mostly by transthoracic or transesophageal echocardiography, noninvasive computed tomography, or magnetic resonance angiography. Fetal echocardiography using three-dimensional power Doppler imaging permits prenatal diagnosis. Most frequently, patients are asymptomatic in the absence of associated abnormalities and can be followed conservatively. For patients with congestive heart failure, repeated pneumonia, or pulmonary-to-systemic blood flow ratios greater than 1.5 and pulmonary hypertension, it is important to reroute the anomalous right pulmonary veins and repair the associated cardiac defects in order to avoid progression to right ventricular failure. The triad of respiratory distress, right lung hypoplasia, and dextroposition of the heart should alert the clinician to think of scimitar syndrome.

Scimitar syndrome associated with partial anomalous pulmonary venous draining into superior vena cava.

Scimitar syndrome is a rare congenital cardiopulmonary malformation characterized by hypoplasia of the right lung and drainage of the right pulmonary veins into the vena cava inferior. It may also be associated with cardiac dextroversion and anomalies of the tracheobronchial system, cardiovascular system, and diaphragm. Some cases are asymptomatic with others diagnosed in early-childhood period with pulmonary hypoplasia and other associated malformations. We present here a patient whose venous return of the middle and lower lobes of the right lung is into the superior vena cava, which is a very unusual finding for this disorder.

The relation of arterial stiffness with intrauterine growth retardation.

BACKGROUND: Much epidemiological evidence has linked low birthweight with late cardiovascular risk. Intrauterine growth retardation (IUGR) is associated with the increased risk of cardiovascular disease in adult life; it is unclear whether the relationship is present at younger ages. We evaluated whether abdominal aortic stiffness was altered in patients with IUGR (born at term with birthweight small for gestational age) in younger ages. METHODS: Thirty-two (24 girls and eight boys) IUGR children aged 8.77 +/- 2.05 years were enrolled in the study. The birthweight was traced from the medical records. Their gestational ages were 38.9 +/- 0.85 weeks and birthweights 2130 +/- 198 g, respectively. Thirty-one healthy subjects who had normal gestational age and birthweight, matched for age and sex were recruited as a control group. Aortic strain, pressure strain elastic modulus (Ep), and normalized Ep and aortic distensibility were measured by a sphygmomanometer and transthoracic echocardiography in all subjects from the abdominal aorta. RESULTS: There was no statistically significant difference between the study and the control groups in sex, mean age, body mass index, lipid profile, leptin, insulin-like growth factor-1 or insulin-like growth factor binding protein 3. In IUGR children, aortic strain (0.201 +/- 0.027 vs 0.254 +/- 0.031, P < 0.001) and aortic distensibility (1.08 +/- 0.19 vs 1.42 +/- 0.24, P < 0.001) were significantly lower compared with the control group. However Ep (188 +/- 36.2 vs 146 +/- 27.1, P < 0.001) and normalized Ep (2.97 +/- 0.40 vs 2.1 +/- 0.39, P < 0.001) were significantly higher in IUGR patients. CONCLUSIONS: This study demonstrates that abdominal aortic stiffness is increased in IUGR patients. These data suggest that prenatal events could be related to cardiovascular risk in later life.

Acquired partial lipodystrophy associated with varicella.

Acquired partial lipodystrophy (Barraquer-Simons syndrome) is a rare condition with onset in childhood, and it is characterized by progressive loss of subcutaneous fat in a cephalocaudal fashion. Although it is known that acquired partial lipodystrophy usually follows acute febrile illness, it is very rarely reported to occur in association with varicella. In this case report, we present a seven-year-old girl with progressive loss of fat in her face just after varicella who was diagnosed as acquired partial lipodystrophy.

Plasma natriuretic peptides levels and echocardiographic findings in late subclinical anthracycline toxicity.

The purpose of this study was to evaluate late cardiac toxicity by comprehensive echocardiographic study, and to determine whether plasma atrial natriuretic peptide and brain natriuretic peptide levels might be indicators of neurohumoral activation. The study included 49 long-term survivors and 21 controls. A wide variety of echocardiographic parameters were measured or calculated. Plasma peptide levels were determined. Patients had significant changes in different echocardiographic parameters that are suggestive of LV systolic and diastolic dysfunction. Plasma peptide levels were not increased. The authors have found significant subclinic cardiotoxicity by echocardiography. Survivors seem to have normal plasma natriuretic peptide levels in long-term period.