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1.
J Clin Ultrasound ; 52(4): 415-425, 2024 May.
Article in English | MEDLINE | ID: mdl-38385619

ABSTRACT

PURPOSE: We aimed to investigate the role of lung ultrasound (LUS) score in the closure of hemodynamically insignificant patent ductus arteriosus (PDA) and the clinical findings of the patients before and after closure. METHODS: The study groups (107 preterm neonates under 34 gestational weeks) were classified as hemodynamically significant PDA (group 1), hemodynamically insignificant PDA with closure therapy (group 2), hemodynamically insignificant PDA without closure therapy (group 3), and no PDA group (group 4) based on the echocardiography. 6- and 10-region LUS scores were compared for each group. RESULTS: There was a significant difference between groups 1 and 3 on first, third, and seventh days. In contrast, groups 1 and 2 had similar LUS scores on the first, third, and seventh days. There was a negative correlation between LUS scores on the first and third days and gestational age, birth weight, the first- and fifth-minute APGAR scores, and there was a positive correlation between aortic root to left atrium ratio, and PDA diameter/weight ratio. CONCLUSION: We observed that LUS scores in patients with hemodynamically insignificant PDA treated with closure therapy were similar to in patients with hemodynamically significant PDA. Thus, LUS score can have role in PDA closure in preterm neonates. However, more comprehensive studies are needed.


Subject(s)
Ductus Arteriosus, Patent , Lung , Humans , Ductus Arteriosus, Patent/diagnostic imaging , Ductus Arteriosus, Patent/physiopathology , Infant, Newborn , Female , Male , Lung/diagnostic imaging , Lung/physiopathology , Infant, Premature , Echocardiography/methods , Ultrasonography/methods , Treatment Outcome
2.
Am J Med Genet A ; 194(6): e63545, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38264826

ABSTRACT

Mucolipidosis type-II (ML-II) is an ultra-rare disorder caused by deficiency of N-acetylglucosaminyl-1-phosphotransferase enzyme due to biallelic pathogenic variants in GNPTAB gene. There are a few known about the natural history of ML-II. In this study, we presented the natural course of 24 patients diagnosed with ML-II. Mean age at diagnosis was 9.3 ± 5.7 months. All patients had coarse face, developmental delay, and hypotonia. The mean survival time was 3.01 ± 1.4 years. The oldest patient was 6.5 years old. Twelve patients died due to lung infection and respiratory failure. We observed early and significant radiological findings of ML-II were different from typical dysostosis multiplex such as femoral cloaking, rickets-like changes, and talocalcaneal stippling. These are significant findings observed in the fetal or newborn period which is considered to be highly characteristic of ML-II and disappears in the first year. Cloaking, rickets-like changes, and stippling were not observed in patients older than three months of age and this suggests that these findings disappear within the first year. These radiological features can be used as important clues for diagnosis. We detected eight different pathogenic variants in GNPTAB gene, three of them were novel.


Subject(s)
Mucolipidoses , Humans , Mucolipidoses/genetics , Mucolipidoses/diagnosis , Mucolipidoses/diagnostic imaging , Mucolipidoses/pathology , Male , Female , Infant , Child, Preschool , Child , Transferases (Other Substituted Phosphate Groups)/genetics , Mutation/genetics , Radiography , Early Diagnosis , Infant, Newborn , Phenotype
3.
J Paediatr Child Health ; 59(4): 637-643, 2023 04.
Article in English | MEDLINE | ID: mdl-36786503

ABSTRACT

AIM: Cardiovascular involvement is common among children with multisystem inflammatory syndrome (MIS-C) and can cause shock and death. In this study, we evaluated the early and long-term cardiac effects of MIS-C. METHODS: In this observational cohort study, we included all children treated for MIS-C from October 2020 to November 2021 in the Department of Paediatric Infectious Disease at Cukurova University School of Medicine Hospital. The patients underwent serial echocardiographical evaluation during hospitalisation and at 1, 3, 6 and 12 months after discharge. The patients were evaluated using Holter monitorisation between 4 and 6 months and using cardiac magnetic resonance imaging at 6 months and thereafter. RESULTS: Twenty-six patients diagnosed with MIS-C and with a median age of 84 months were included. Cardiac involvement was found in 19 (73.1%) patients. At initial echocardiographic evaluation, the mean ejection fraction value of the patients was 56.7% (range: 30-75). Coronary artery dilatation was detected in two (7.7%) patients, and mitral regurgitation persisted in only one patient by month 3. Treatment was started in two (7.7%) patients due to ventricular arrhythmia. Cardiac magnetic resonance imaging was performed in 13 (50%) patients at a median of 6 months (range: 5-9). The cardiac magnetic resonance imaging findings were consistent with possible interstitial fibrosis in two (7.7%) patients. CONCLUSION: Our results showed that cardiac involvement of patients improved rapidly with treatment, as indicated by previous studies. However, during the 1-year follow-up, frequent extraventricular systole was detected in two patients, one of whom initially did not show cardiac involvement. Moreover, possible interstitial fibrosis was detected in the cardiac magnetic resonance imaging (MRI) evaluation of two patients. In particular, we believe that these findings may be useful to evaluate critically ill paediatric patients and patients with severely low EF with cardiac MRI in their follow-up.


Subject(s)
Coronary Aneurysm , Heart , Humans , Child , Follow-Up Studies , Fibrosis
4.
Cardiol Young ; 33(10): 1950-1955, 2023 Oct.
Article in English | MEDLINE | ID: mdl-36419327

ABSTRACT

The aim of this study was to present the clinical and microbiological characteristics of patients with infective endocarditis.A retrospective evaluation was made of patients diagnosed with infective endocarditis between 1995 and 2021. The clinical and laboratory characteristics of the patients were recorded together with conditions constituting a risk for the development of endocarditis, treatment, and surgical outcomes.Evaluation was made of 68 patients with a mean age of 7.3 years (3 months-17 years), diagnosed with infective endocarditis. An underlying cause of CHD was determined in 47 (69%) patients and rheumatic valve disease in 3 (4.4%). There was no structural heart disease in 18 (26%) patients of whom 13 of them had other risk factors. A causative organism was found in 41 (60%) cases, and the microorganism most often determined was viridans group streptococcus. No difference was determined between the patients diagnosed before and after 2007 in respect of the frequency of viridans streptococcus (p > 0.05). Septic emboli were seen in 18 (26%) patients, of which 17 required surgical treatments. In 5 of 11 (16.6%) patients with mortality, the agent was S. aureus. Of the total 28 (41%) patients were evaluated as hospital-acquired endocarditis. The most frequently determined agents in this group were staphylococcus epidermidis and S. aureus.Although CHDs continue to be the greatest risk factor for endocarditis, there is an increasing frequency of endocarditis in patients with no structural heart disease. Mortality rates are still high in infective endocarditis, especially in S. aureus endocarditis.


Subject(s)
Endocarditis, Bacterial , Endocarditis , Heart Diseases , Humans , Child , Staphylococcus aureus , Retrospective Studies , Endocarditis, Bacterial/complications , Endocarditis, Bacterial/epidemiology , Endocarditis, Bacterial/diagnosis , Endocarditis/complications , Endocarditis/epidemiology , Endocarditis/microbiology
5.
World Neurosurg ; 131: 108-111, 2019 Nov.
Article in English | MEDLINE | ID: mdl-31323407

ABSTRACT

BACKGROUND: Atlantoaxial subluxation caused by Brucella infection is rarely seen in children. CASE DESCRIPTION: C1-C2 dislocation, erosion in the odontoid bone, and compression to the brainstem were detected on cervical computed tomography and magnetic resonance imaging in a 6-year-old patient who suffered neck pain, deviation to the right in the neck, fever, and pain in his extremities. He was hospitalized in the Clinic of Pediatric Infectious Diseases. Positive Brucella agglutination tests were obtained, so C1-C2 stabilization and fusion were performed. Antibrucellosis antibiotic treatment was administered for 6 months. It was suggested that the dislocation was related to odontoid erosion and laxity of the atlantoaxial ligamentous structures during Brucella infection. CONCLUSIONS: Atlantoaxial dislocation and instability develops secondarily to paravertebral abscesses, only rarely. Like brucellosis of childhood, granulomatous infectious diseases rarely cause atlantoaxial subluxation or dislocation. Torticollis and neck pains should be taken seriously for the purpose of early diagnosis of patients at risk in endemic regions. Stabilization and fusion should be performed when instability is detected, and these patients should be assessed with both pediatric infectious diseases and neurosurgery clinics. Our case is the first one in the literature in which atlantoaxial instability developed due to Brucella infection and stabilization was performed.


Subject(s)
Atlanto-Axial Joint/diagnostic imaging , Brucellosis/complications , Joint Dislocations/etiology , Joint Instability/etiology , Anti-Bacterial Agents/therapeutic use , Atlanto-Axial Joint/surgery , Brucellosis/diagnosis , Brucellosis/drug therapy , Child , Humans , Imaging, Three-Dimensional , Joint Dislocations/diagnostic imaging , Joint Dislocations/surgery , Magnetic Resonance Imaging , Male , Odontoid Process/diagnostic imaging , Spinal Fusion , Tomography, X-Ray Computed
6.
J Pediatr Endocrinol Metab ; 29(7): 863-6, 2016 Jul 01.
Article in English | MEDLINE | ID: mdl-27089410

ABSTRACT

Although propionic acidemia (PA) is a devastating inherited metabolic disease, with early diagnosis and advanced treatment strategies prognosis gets better and girls can survive to child-bearing ages. We share the detailed follow-up data of the pregnancy, successful labor with cesarean section and a healthy baby of a Turkish patient with PA.


Subject(s)
Lactation , Methylmalonyl-CoA Decarboxylase/genetics , Mutation , Pregnancy Complications/genetics , Propionic Acidemia/genetics , Adult , Cesarean Section , Child Development , Diet, Vegetarian , Female , Homozygote , Humans , Infant, Low Birth Weight , Infant, Newborn , Pregnancy , Pregnancy Complications/diet therapy , Pregnancy Complications/physiopathology , Propionic Acidemia/diet therapy , Propionic Acidemia/physiopathology , Term Birth , Turkey
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