The Turkish journal of pediatrics最新文献

Background: Polyarteritis nodosa (PAN) is a rare and serious form of systemic necrotizing vasculitis that predominantly affects medium and small-sized arteries, with central nervous system involvement being particularly uncommon. Treatment strategies are tailored according to the extent and severity of the disease. While conventional therapy includes glucocorticoids and conventional disease-modifying-rheumatic drugs (cDMARDs), biologic agents may be critical for severe and refractory cases.

Case: We report a case of systemic PAN in a 7-year-old girl with no prior medical history, who presented with fever, abdominal pain, and altered mental status. Initial investigations with cranial MRI and echocardiography suggested encephalitis and myocarditis, respectively. Positive SARS-CoV-2 antibodies in both cerebrospinal fluid and serum oriented the diagnosis towards multisystem inflammatory syndrome in children. Despite intensive conventional therapies with glucocorticoids, cDMARDs, and intravenous immunoglobulins, the patient's condition deteriorated. Elevated von Willebrand factor levels, hypertension, and proteinuria emerged, along with stable intracranial hemorrhage and abdominal organ infarctions on imaging, leading to the diagnosis of PAN. Cyclophosphamide was added to the treatment regimen. Three cranial aneurysms were identified on selective conventional cranial angiography. Following angiography, severe intraparenchymal bleeding was detected, leading to emergency cranial surgery. Unresponsiveness to conventional therapeutics led to treatment escalation with a tumor necrosis factor inhibitor, infliximab, resulting in clinical stabilization and allowing for successful endovascular coil embolization.

Conclusion: This case highlights the importance of considering a tumor necrosis factor inhibitor, infliximab, in severe PAN with involvement of intracranial aneurysm.

Background: Understanding the outcome of functional constipation (FC) for both patients and physicians is essential, yet it has been infrequently reported worldwide. The objective of this report was to update the outcomes of FC in Saudi children.

Methods: Clinical data including age, sex, response to management, duration of follow up, and type of management were collected from the notes of each clinic visits and phone call follow-ups.

Results: The study included 268 children followed up for a 7 year duration. The median age of onset was 4 (0.1 to 13) years, and 123/268 (46%) were male. There was an increasing recovery rate with increasing duration of follow up with an overall recovery rate of 79%. There was no significant association between recovery and age at onset (p=0.0860) or duration of constipation (P=0.124). Management by pediatric gastroenterologists did not increase rate of recovery (81% vs. 77%, p=0.432) or being cured (47% vs. 36%, p=0.108) significantly. According to the parents of children who recovered, diet in association with polyethylene glycol (PEG) and toilet training were most helpful. Poor diet and nonadherence to medications were the most common causes of lack of recovery.

Conclusions: The higher rates of recovery in this Middle Eastern childhood population than other populations are possibly related to cultural characteristics. The parents' views support the importance of diet associated with other modalities as important parts of management.  Further research is needed to identify correctable causes of nonadherence to treatment to improve recovery.

Background: Bronchopulmonary dysplasia (BPD) is a chronic lung disease in premature infants caused by an imbalance between lung injury and lung repair in the developing immature lungs of the newborn. Pulmonary inflammation is an important feature in the pathogenesis of BPD. The aim of this study was to evaluate the relationship between the inflammatory microenvironment and the levels of visfatin and nesfatin-1, which are among the new adipocytokines, in BPD patients.

Methods: The groups consisted of 30 patients with BPD and 30 healthy children. Plasma levels of visfatin and nesfatin-1 and inflammation-related markers including interleukin-4 (IL-4), interleukin-10 (IL-10), nuclear factor kappa B (Nf-κB) and matrix metalloproteinase-9 (MMP-9) were determined by enzyme-linked immunosorbent assay (ELISA). RT-PCR was performed to evaluate the change in mRNA expression of visfatin and nesfatin-1 in the groups.

Results: Visfatin levels were significantly higher in the BPD group compared to the healthy control (7.05±4.07 ng/ml vs. 2.13±1.66 ng/ml, p<0.0001). There was a 1.36±0.12 fold increase in visfatin mRNA expression (p<0.05) in the BPD group. There was no significant difference in plasma levels of nesfatin-1, IL-4, and IL-10 between the groups. Although MMP-9 and Nf-κB levels were significantly higher in the BPD group (p<0.0001), there was no correlation between visfatin levels and MMP-9 and Nf-κB levels in BPD patients.

Conclusions: This study showed that significant changes in visfatin levels in BPD patients might be associated with the risk of developing inflammation in BPD.

Objectives: To evaluate the role of serum procalcitonin (PCT) as a diagnostic tool to differentiate bacterial sepsis from flare-ups during febrile episodes in children with known rheumatic disorders compared to other inflammatory markers like C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR).

Methods: Previously diagnosed patients with known rheumatic disorders presenting in emergency or outpatient departments with febrile episodes were included in the study. Blood samples were collected upon admission to test for signs of infection, including serum PCT levels with routine laboratory and radiological tests. Patients with juvenile idiopathic arthritis (JIA) and systemic lupus erythematosus (SLE) were stratified using the Juvenile Arthritis Disease Activity Score (JADAS-27) and SLE Disease Activity Index (SLEDAI) respectively. Patients without bacterial focus with high disease activity were included in the flare-up group and the rest in the sepsis cohort. The diagnostic value of PCT was calculated using receiver operating characteristic (ROC) curve analysis.

Results: In the study (N=73), 41 (56.2%) patients were previously diagnosed with JIA and 28 (38.3%) had SLE. 38 patients had definite evidence of sepsis and 35 had disease flare-ups as per respective disease activity scores. There was a significant difference in PCT and CRP among the flare-up and sepsis groups. For detecting sepsis, the area under curve (0.959), sensitivity (94.7%), and specificity (74.3%) of PCT at a cut-off of 0.275 ng/mL were significantly better than those of CRP.

Conclusion: PCT is a better diagnostic test than CRP or ESR during febrile episodes in differentiating flare-ups from infection and PCT >0.275 ng/mL indicates bacterial infection with good specificity and sensitivity in children with low disease activity.

Background: Primary breast lymphoma is extremely rare and constitutes approximately 1% of all non-Hodgkin's lymphomas (NHL). Only 1-5% of them are Burkitt type. We present a case of childhood primary breast Burkitt lymphoma (BL).

Case presentation: A 16-year-old female patient was referred to our hospital for bilateral breast swelling and respiratory distress. She had lactic acidosis. Despite aggressive dialysis support, lactic acid levels started to decrease only after the combination chemotherapy treatment was started and returned to normal. Histopathological examination of the biopsy was consistent with the diagnosis of BL. The case was classified as stage 4 disease. EICNHL Mature B NHL protocol, Group C3 chemotherapy was given and a very good partial response was achieved. However, the patient died due to fungal septicemia.

Conclusion: Type B lactic acidosis in aggressive malignancies indicates a poor prognosis. In such cases, as in our case, lactic acidosis improves only with appropriate and sufficient chemotherapy, and its improvement is an important indicator that the case is responsive to treatment.

Background: Idiopathic nephrotic syndrome (NS) is the most prevalent glomerular disease in children. Heat shock protein 70 (HSP70) is synthesized in response to diverse stress factors like infections and oxidative stress. We aimed to evaluate serum and urine levels of HSP70 in children with steroid-sensitive nephrotic syndrome (SSNS) and to assess changes in HSP70 levels with prednisolone treatment. Additionally, we seek to determine whether serum and urine levels of HSP70 can differentiate between frequently relapsing and infrequently relapsing cases in children with SSNS.

Methods: A total of 36 patients with SSNS and 35 healthy children were included in the study. Samples were taken from all patients at four time points; before corticosteroid treatment (day 0) and on days 15, 30, and 90 after the initiation of corticosteroid treatment. Serum and urine levels of HSP70 were measured by enzyme-linked immunosorbent assay (ELISA).

Results: In the NS group before steroid treatment (day 0), urine HSP70 (uHSP70) levels and urine HSP70/creatinine (uHSP70/Cre) ratios were significantly higher (p<0.0001), whereas serum HSP70 (sHSP70) levels were lower (p=0.002), compared to the healthy group. uHSP70 levels decreased gradually during prednisolone treatment in the patient group (p<0.0001). There was no difference in terms of sHSP70, uHSP70, and uHSP70/Cre ratios between patients with frequently relapsing and infrequently relapsing.

Conclusions: Our study demonstrates that uHSP70 levels are elevated in SSNS prior to treatment and decrease with prednisolone therapy, reflecting reduced renal stress and damage. uHSP70 may be a useful biomarker for monitoring renal damage and treatment response. Serum and urine levels of HSP70, as well as uHSP70/Cre ratios, did not differentiate between frequent and infrequent relapses.

Background: Any impediment to the development of midline structures i.e. hypothalamus, pituitary and oral cavity may cause anatomical and functional issues. We aimed to determine the association of endocrine disorders with anatomic defects of midline structures i.e. cleft types and syndromes, as well as their impact on postoperative intensive care unit (ICU) admissions and complications.

Methods: A total of 6000 patients from the Cleft Lip and/or Palate (CLP) Treatment Center between September 2014 - February 2022 were included. Patients with physical findings or biochemistry that may indicate endocrine disorders were examined by the Division of Pediatric Endocrinology. Data concerning sex, operation age, cleft types, coexisting endocrine disorders, syndromes, echocardiography, postoperative complications as well as postoperative intensive care unit (ICU) admissions were recorded.

Results: The study group consisted of 78 patients with endocrine disorders, with a mean follow-up time of 59±7 months. One hundred and nine CLP operations were performed. The most common endocrine disorders coexisting in CLP patients were hypothyroidism (44.8%) and growth hormone (GH) deficiency (14.1%). Of the patients, 29.4% had genetic syndromes. The median age of operation in patients with endocrine disorders was 5 months (Q1-Q3: 4-8 months) for cleft lip and 15 months (Q1-Q3: 12-20 months) for cleft palate repair. Of the patients with CLP and endocrine disorders, 24% required postoperative ICU admission. Age of operation and ICU admission rates were higher compared to the general population of patients with CLP in our center (p<0.01).

Conclusions: Endocrine disorders, particularly hypothyroidism and GH deficiency, are frequent in CLP. Furthermore, our data suggest that endocrine disorders may complicate the postoperative course. Thus, investigation of these problems is crucial for appropriate treatment as well as adopting measures to successfully manage the postoperative course.

Background: Patients with hemophilia should be evaluated for joint health and overall health in their visits. The aims of this study were to evaluate joint health and health-related quality of life (HRQoL) in patients with mild, moderate, and severe hemophilia; determine which patient groups to focus on and whether there are any neglected patient groups.

Methods: This was a single-center, cross-sectional study. Patients were evaluated by ultrasonography (Hemophilia Early Arthropathy Detection with Ultrasound [HEAD-US]), physical examination (Hemophilia Joint Health Score version 2.1 [HJHS-2.1]), and HRQoL scales (EQ-5D/EQ-VAS and Haemo-QoL).

Results: Thirty-nine patients with regular follow-up were evaluated for a total of 234 joints. When hemophilia severity was compared with the HEAD-US and HJHS-2.1, a significant difference was found between severe and non-severe hemophilia. On the other hand, when patients' total HEAD-US scores were compared with total HJHS-2.1 scores, no statistically significant correlations were found; only a statistically significant but negligible correlation was detected when HEAD-US and HJHS-2.1 scores were examined at joint level. No significant difference was found when mild, moderate or severe hemophilia were compared with the HRQoL scores. Also, HEAD-US scores and HRQoL scores were not correlated, showing that the HRQoL score did not change whether the patient has arthropathy or not.

Conclusion: Despite recent advances in treatment options for hemophilia, arthropathy in patients with severe hemophilia remains challenging. For the follow-up of pediatric hemophilia, the HEAD-US and HJHS should be used together because their correlation was weak. Although patients with severe hemophilia are at higher risk in terms of arthropathy, patients with mild/moderate hemophilia should not be ignored because their HRQoL is not different from that of severe hemophilia.

Background: We aimed to evaluate how the parameters used in the diagnosis of metabolic syndrome (MetS) and parameters such as epicardial adipose tissue (EAT) thickness, insulin resistance (IR), and serum uric acid (SUA) are affected according to the severity of obesity.

Methods: A total of 120 obese patients aged 10-18 years were classified as class 1-2-3 according to their body mass index (BMI) score. SUA was measured and oral glucose tolerance tests were performed on all patients. MetS components were determined according to the International Diabetes Federation 2007 criteria. IR was calculated using homeostatic model assessment for insulin resistance (HOMA-IR) and whole body insulin sensitivity index (WBISI).

Results: HOMA-IR was higher in the class 3 group than in the class 1 (p<0.001) and class 2 groups (p<0.01). WBISI was lower in the class 3 group than in the class 1 (p=0.015) and class 2 groups (p<0.01). EAT thickness was higher in the class 3 group than in the class 1 (p<0.01) and class 2 groups (p<0.01). No significant difference was found between class 1 and 2 groups for HOMA-IR, WBISI, and EAT thickness variables. The frequency of the MetS components was similar between the class of obesity groups (p=0.702). SUA and EAT thickness were significantly higher in the group with 2 and/or more MetS components than in the group with no MetS component. EAT thickness was positively and moderately correlated with SUA levels (Rho=0.319, p<0.001).

Conclusions: A more significant increase in cardiovascular disease risk factors, especially after class 2 obesity suggests that obese people should be followed closely and necessary interventions made for the prevention and progression of obesity. SUA and EAT thickness, an important risk factor affecting the obesity-related comorbidities, are positively correlated with each other and can be used in the follow-up of obese children.

Background: Pneumatosis intestinalis (PI) is a rare radiological finding that may be associated with various diseases. In the neonatal period, it is considered pathognomonic for necrotizing enterocolitis (NEC). Cow's milk protein allergy (CMA) is the main cause of allergy especially in term infants appearing following breastfeeding or consumption of milk-based formulas.

Case report: We report three neonates presenting with PI and diagnosed with CMA and/or NEC. Case 1 was a 44-day-old preterm infant admitted to the hospital for nutritional deficiency and jaundice, who later developed PI and a NEC-like appearance (NEC-LA). Case 2 was born at 28 weeks' gestation and developed PI and NEC-LA five times. Case 3 was a 24-day-old term neonate who was admitted to the hospital due to acute gastroenteritis and developed PI and NEC-LA. Only case three required a surgical intervention. After feeding the infants an amino acid-based formula, clinical manifestations improved quickly, and the disease did not relapse. In our opinion, CMA was the correct diagnosis for cases 1 and 3. However, case 2 developed two NEC episodes and three NEC-LA episodes, which were thought to be related to CMA.

Conclusions: In addition to NEC, CMA should be considered in every PI, and recurrent NEC feeding should begin in accordance with a CMA management protocol.