Severe adrenal insufficiency in six neonates with normal newborn screening for CAH.

BACKGROUND: Newborn screening (NBS) reduces the risk of mortality in congenital adrenal hyperplasia (CAH), mainly due to the salt-wasting form of 21-hydroxylase deficiency. There is limited knowledge regarding the results of NBS in non-CAH primary adrenal insufficiency (non-CAH PAI). PATIENTS AND METHODS: Clinical and NBS for CAH data of neonates who were diagnosed with non-CAH PAI between January and December 2022 were examined. RESULTS: Patients (n = 6, 4 females) were presented with severe hyperpigmentation (n = 6), hypoglycemia (n = 4), hyponatremia (n = 3), hyperkalemia (n = 1), respiratory distress syndrome (n = 1) between 3rd hour to 2 months of life. All had normal NBS results. The median first-tier 17-hydroxyprogesterone (17OHP) concentration in NBS for CAH was 0.14 ng/mL (range; 0.05-0.85). Molecular studies revealed biallelic mutations in the MC2R (n = 4; 3 homozygous, 1 compound heterozygous), MRAP (n = 1) and STAR (n = 1) genes. Glucocorticoid with or without mineralocorticoid replacement was initiated once the diagnosis of non-CAH PAI was established. CONCLUSION: Neonates with non-CAH PAI have always normal NBS due to persistently low 17OHP, even when these newborn infants are severely symptomatic for adrenal insufficiency. Clinicians should be alert for signs of adrenal insufficiency in neonates, even if the patient has a 'normal' screening for CAH, so as not to delay diagnosis and treatment. This fact should be kept in mind particularly in countries where these conditions are more common than elsewhere.

The impact of fragmented QRS on clinical findings and outcomes in children with dilated cardiomyopathy with or without left ventricular non-compaction.

OBJECTIVE: The aim of this study is to investigate the frequency of fragmented QRS and its associations with clinical findings and prognosis in children diagnosed with dilated cardiomyopathy with or without left ventricular non-compaction. METHODS: This retrospective study was conducted between 2010 and 2020. Patients with dilated cardiomyopathy were classified into two groups according to the presence of left ventricular non-compaction: Dilated cardiomyopathy with left ventricular non-compaction and dilated cardiomyopathy without left ventricular non-compaction. Patients were also divided into two groups according to the presence of fragmented QRS (fragmented QRS group and non-fragmented QRS group). RESULTS: Twenty-three of 44 patients (52.3%) were male. Among left ventricular non-compaction patients, the fragmented QRS group had more complex ventricular arrhythmias (p = 0.003). Patients with fragmented QRS had a significantly higher rate of major adverse cardiac events and/or cardiac death in both cardiomyopathy groups (p = 0.003 and p = 0.005). However, the rate of major adverse cardiac events and/or cardiac death was similar between dilated cardiomyopathy patients with and without left ventricular non-compaction. Multivariate logistic regression analysis showed that the presence of fragmented QRS strongly predicts major adverse cardiac events and/or cardiac death (odds ratio, 31.186; 95% confidence interval, 2.347-414.307). Although the survival rates between cardiomyopathy groups were similar, patients with fragmented QRS had a markedly lower survival rate during the follow-up period, as mean of 15 months (p = 0.001). CONCLUSION: Our study showed that the presence of fragmented QRS may be an important ECG sign predicting an major adverse cardiac event and/or cardiac death in patients with dilated cardiomyopathy. We believe that recognising fragmented QRS could be valuable in forecasting patient prognosis and identifying high-risk patients who require additional support.

Cardiovascular manifestations and cardiac magnetic resonance follow-up of multisystem inflammatory syndrome in children (MIS-C).

OBJECTIVE: This study aimed to evaluate the cardiovascular manifestations and surveillance of multisystem inflammatory syndrome in children (MIS-C) and to determine the correlation of echocardiographic findings with cardiac magnetic resonance imaging findings. METHODS: Forty-four children diagnosed as MIS-C with cardiac involvement were enrolled in this observational descriptive study. The diagnosis of MIS-C was made according to the criteria of Centers for Disease Control and Prevention. Clinical findings, laboratory parameters, and electrocardiographic and echocardiographic findings at the time of diagnosis and during follow-up were evaluated. Cardiac magnetic resonance was performed on 28 (64%) cases. The 1-year follow-up imaging was performed in all cases with abnormal initial cardiac magnetic resonance findings. RESULTS: Forty-four patients (56.8% male) with a mean age of 8.5 ± 4.8 years were enrolled in this study. There was a significant positive correlation between high-sensitivity cardiac troponin T (mean: 162 ± 444.4 pg/ml) and N-terminal pro b-type natriuretic peptide (mean: 10,054 ± 11,604 pg/ml) (p < 0.01). Number of cases with an electrocardiographic and echocardiographic abnormality was 34 (77%) and 31 (70%), respectively. Twelve cases (45%) had left ventricular systolic dysfunction and 14 (32%) cases had pericardial effusion on admission. Three cases (11%) had cardiac magnetic resonance findings that may be attributed to the presence of myocardial inflammation, and pericardial effusion was present in seven (25%) cases. Follow-up cardiac magnetic resonances of all cases were normal. Cardiac abnormalities were completely resolved in all except two cases. CONCLUSIONS: Myocardial involvement can be seen during acute disease, but MIS-C generally does not lead to prominent damage during a year of surveillance. Cardiac magnetic resonance is a valuable tool to evaluate the degree of myocardial involvement in cases with MIS-C.

Hybrid extracorporeal membrane oxynegation in pediatric intensive care patients: A single center experience: More is better?

BACKGROUND: The initial extracorporeal membrane oxygenation (ECMO) configuration is inefficient for patient oxygenation and flow, but by adding a Y-connector, a third or fourth cannula can be used to support the system, which is called hybrid ECMO. METHODS: This was a single-center retrospective study consisting of patients receiving hybrid and standard ECMO in our PICU between January 2014 and January 2022. RESULTS: The median age of the 12 patients who received hybrid ECMO and were followed up with hybrid ECMO was 140 (range, 82-213) months. The total median ECMO duration of the patients who received hybrid ECMO was 23 (8-72) days, and the median follow-up time on hybrid ECMO was 18 (range, 3-46) days. The mean duration of follow-up in the PICU was 34 (range, 14-184) days. PICU length of stay was found to be statistically significant and was found to be longer in the hybrid ECMO group (p = 0.01). Eight (67%) patients died during follow-up with ECMO. Twenty-eight-day mortality was found to be statistically significant and was found to be higher in the standard ECMO group (p = 0.03). The hybrid ECMO mortality rate was 66% (decannulation from ECMO). The hybrid ECMO hospital mortality rate was 75%. The standard ECMO mortality rate was 52% (decannulation from ECMO). The standard ECMO hospital mortality rate was 65%. CONCLUSIONS: Even though hybrid ECMO use is rare, with increasing experience and new methods, more successful experience will be gained. Switching to hybrid ECMO from standard ECMO at the right time with the right technique can increase treatment success and survival.

Multisystem Inflammatory Syndrome in Children Admitted to a Tertiary Pediatric Intensive Care Unit.

Background Multisystem inflammatory syndrome in children (MIS-C) is characterized by persistent fever, abdominal pain, vomiting, diarrhea, rash, conjunctivitis, headaches, and mucocutaneous manifestations and it can cause circulatory dysfunction, resulting in hypotension, shock, and end-organ injury in the heart and other organs and possibly death. In this study, we aimed to analyze the clinical spectrum, treatment options and outcomes of children with MIS-C who were admitted to our pediatric intensive care (PICU). Materials and Methods Clinical and laboratory findings and treatment of the patients admitted to the PICU with MIS-C between April 2020 and January 2021 were recorded, and their outcomes were evaluated. Results Nineteen patients with a median age of 12.5 years (interquartile range (IQR): 5.8-14.0 years) were admitted. Eleven (57.8%) were males. The most frequent clinical and laboratory features were fever (100%), abdominal pain (94.7%), rash (63.1%), headache (68.4%), diarrhea (47.3%), seizure (10.5%), cardiac dysfunction (52.6%), acute kidney injury (26.3%), lymphopenia (84.2%), and thrombocytopenia (36.8%). However, 8 patients needed mechanical respiratory support, 11 patients needed inotropes, 2 patients needed plasma exchange, and 1 patient needed continuous renal replacement therapy. All patients received corticosteroids, 17 patients (89.2%) received intravenous immunoglobulin, 2 patients received anakinra, 10 patients received acetylsalicylic acid, and 6 patients received enoxaparin. Median PICU length of stay was 3 days (IQR: 2-5) and only one patient died. Conclusion In conclusion, MIS-C may present with a variety of clinical manifestations, and it can lead to life-threatening critical illness. Most children need intensive care and the response to immunomodulation is usually favorable.

Evaluation of the Performance of Vasoactive Ventilation Renal Score in Predicting the Duration of Mechanical Ventilation and Intensive Care Hospitalization After Pediatric Cardiac Surgery.

Various methods have been used to evaluate the predictivity of some markers during the recovery process after cardiac surgery in children. The aim herein was to evaluate the vasoactive ventilation renal (VVR) score in predicting the clinical outcomes of children who underwent congenital cardiac surgery within the early period in the pediatric intensive care unit (PICU). Patients who underwent congenital heart surgery (CHS) between November 2016 and March 2020 were enrolled and evaluated prospectively. The VVR score was calculated as follows: vasoactive inotrope score (VIS) + ventilation index + (change in serum creatinine level based on the baseline value × 10). The relationship between the duration of mechanical ventilation and the length of stay (LOS) in the PICU was evaluated via receiver operating characteristic (ROC) curve analysis and the cut-off values were calculated. At all of the time points identified in the study, the VVR score had a higher area under the ROC curve (AUC) when compared to the VIS and serum lactate levels, and the 48-h VVR score had the highest AUC (AUC 0.851, 95% confidence interval (CI) 0.761-0.942/LOS in the PICU; AUC 0.946, 95% CI 0.885-1.000/duration of mechanical ventilation). The 48-h VVR score for the LOS in the PICU was 6.7 (sensitivity 70%, specificity 92%) and that for the duration of mechanical ventilation was 9.1 (sensitivity 87%, specificity 97%). As a result, in our study, it was found that the VVR score is a new and effective predictor of the duration of mechanical ventilation and LOS in the PICU in postoperative CHS patients.

The role and efficacy of routine high-sensitivity troponin T screening in paediatric COVID-19.

OBJECTIVE: We aimed to evaluate the efficacy and role of high-sensitivity troponin T in children with a confirmed SARS-CoV-2 infection and also the correlation of troponin T levels with symptoms, and echocardiographic findings were analysed. METHODS: Two hundred and fourteen patients with a confirmed SARS-CoV-2 infection between the dates of 28 March and 15 August 12020 were enrolled in this retrospective single-centre study. Patients with comorbidities and diagnosed as multisystem inflammatory syndrome in children were excluded. Demographic data, clinical and laboratory parameters were evaluated. The patients were classified and compared according to the troponin positivity. The correlation of troponin T with symptoms and echocardiographic findings was analysed. RESULTS: The most common symptoms in the whole study group were fever (53.3%) and cough (24.8%). Troponin T levels were elevated in 15 (7%) patients. The most common symptom in patients with troponin positivity was also fever (73.3%). Troponin T positivity was significantly higher in patients under the age of 12 months and troponin T levels were negatively correlated with age. C-reactive protein levels were elevated in 77 (36%) of the patients in the whole group and 7 (46.7%) of 15 patients with troponin positivity. C-reactive protein levels were similar between groups. CONCLUSION: Routine troponin screening does not yield much information in previously healthy paediatric COVID-19 patients without any sign of myocardial dysfunction. Elevated troponin levels may be observed but it is mostly a sign of myocardial injury without detectable myocardial dysfunction in this group of patients.

The Relationship of Severity of Autism with Gastrointestinal Symptoms and Serum Zonulin Levels in Autistic Children.

To evaluate the relationship between the severity of autism, severity of gastrointestinal symptoms and serum zonulin levels as a marker of increased intestinal permeability in children. Serum zonulin levels were determined in 56 children with ASDs and 55 healthy children. The severity of gastrointestinal symptoms and ASD symptoms was assessed with the Gastrointestinal Symptom Rating Scale (GSRS) and Childhood Autism Rating Scale (CARS), respectively. Serum zonulin levels were significantly higher than healthy controls in children with severe autism. A positive correlation was found between the CARS score, GSRS score and serum zonulin levels (r = ; P < .001). Our findings suggest that the severity of gastrointestinal symptoms and severity of autism might be related to increased intestinal permeability in ASDs children.

Long-term follow-up of subvalvular aortic stenosis in children: a single-centre experience.

OBJECTIVE: The aim of this study is to evaluate clinical and surgical outcomes of children with subaortic stenosis, to determine the risk factors for surgery and reoperation and to compare isolated subaortic stenosis and those concomitant with CHDs. METHODS: The study involved 80 children with subaortic stenosis. The patients were first classified as isolated and CHD group, and the isolated group was further classified as membranous/fibromuscular group. The initial, pre-operative, post-operative and the most recent echocardiographic data, demographic properties and follow-up results of the groups were analysed and compared. The correlation of echocardiographic parameters with surgery and reoperation was evaluated. RESULTS: There was a significant male predominance in all groups. The frequency of the membranous type was higher than the fibromuscular type in the whole and the CHD group. The median time to the first operation was 4.6 years. Thirty-five (43.7%) patients underwent surgery, 5 of 35 (14%) patients required reoperation. The rate of surgery was similar between groups, but reoperation was significantly higher in the isolated group. The gradient was the most important factor for surgery and reoperation in both groups. In the isolated group besides gradient, mitral-aortic separation was the only echocardiographic parameter correlated with surgery and reoperation. CONCLUSION: Reoperation is higher in isolated subaortic stenosis but similar in membranous and fibromuscular types. Early surgery may be beneficial in preventing aortic insufficiency but does not affect the rate of reoperation. Higher initial gradients are associated with adverse outcomes, recurrence and reoperation.

Aborted cardiac arrest during sport activity in a teenager diagnosed with short QT syndrome.

Short QT syndrome is a malignant repolarisation disorder characterised by short QT intervals. We present a previously asymptomatic 14-year-old male patient with negative family history, who suffered a sudden cardiac arrest while playing basketball and diagnosed with short QT syndrome to make emphasis on the fact that although very rare patients with this syndrome may experience cardiac arrest during exercise.

Giant intracardiac blood cyst of the mitral valve in a pediatric patient: A case report.

Intracardiac blood cysts are rare congenital malformations most commonly located in the endocardium of semilunar or atrioventricular valves. They are predominantly seen in infants, especially below 2 months of age, and disappear spontaneously in the first 6 months of life making the detection of blood cysts a rare finding in the adult population. Although most patients are asymptomatic, they may occasionally present with obstruction, valvular dysfunction, or embolism. Herein, we present a 2.5-year-old female patient, who was successfully treated with surgical excision of an intracardiac blood cyst causing mild-to-moderate mitral regurgitation and obstruction.

Transcatheter closure of aortopulmonary window with Amplatzer duct occluder II: additional size.

Aortopulmonary window is a rare cardiac defect, and early management with surgery or transcatheter closure is lifesaving. Here, a 9-month-old patient, who underwent a successful device closure with additional size-Amplatzer duct occlude, is presented to make emphasis that it may be considered as the device of choice for defects in close proximity to aortic valve and/or coronary ostium.

Factors influencing the contraceptive method choice: a university hospital experience.

OBJECTIVE: To analyze the factors influencing behavior of women in choosing contraceptive methods. MATERIAL AND METHODS: A total of 4022 women who were admitted to our clinic in a year, were the subjects in this current study for contraception choices. Relationship between the current contraceptive choice and the age, marital status, educational level, gravidity and induced abortions were evaluated. RESULTS: Current users of any contraceptive methods were found to make up thirty-three percent of the entire study population. The most preferred method of contraception was an intrauterine device (46.4%), followed by, condom (19.2%), coitus interruptus (16.4%), tubal sterilization (11%), oral contraceptives (5.7%) and lastly the "other methods" that consisted of depot injectables and implants (1.2%). Among other contraceptive methods, the condom was found to be used mostly by the younger age group (OR:0.956, 95% CI:0.936-0.976, p<0.001), while tubal sterilization was preferred mainly by the elderly population (p<0.001, OR:1.091, 95% CI:1.062-1.122). Women that have a higher educational level, were found to use OC (76.3%, OR:5.970, 95% CI:3.233-11.022), tubal sterilization (59.6%, OR:4.110, 95% CI:2.694-6.271) and other methods (62.5%, OR:3.279, 95% CI:1.033-10.402) more commonly than the low educational group (p<0.001). CONCLUSION: These results demonstrated that the rates of both contraception utilization and the usage of more effective methods of contraception need to be increased by providing better family planning systems and counselling opportunities.