Evaluation of newborn hearing screening results of infants with phenylketonuria.

OBJECTIVE: The purpose of this study is comparing the newborn hearing screening failure rate between phenylketonuria (PKU) infants and matched healthy control infants. PATIENTS AND METHODS: Between April 2021 and April 2023, data obtained from the national newborn hearing screening program were examined for patients who presented to the pediatric metabolism clinic of Konya City Hospital with a clinical and genetic diagnosis of PKU. A healthy control group, matched for age and gender, was established. The newborn hearing screening test results, demographic information, and pregnancy data of infants with PKU and the control group were compared to assess risk factors. RESULTS: In the initial screening test, 23 out of 73 PKU infants (31.5%) and 12 out of 73 infants in the control group (16.4%) failed the test (p = 0.033). Among the 23 PKU infants who did not pass the first test, 9 (35%) also failed the second test and were referred. In contrast, all 12 infants in the control group who did not pass the first test passed the second test. The failure rate in the second test was significantly higher in PKU infants compared to the control group (p = 0.003). It was observed that the maternal age of PKU infants who underwent the second test was significantly higher than that of the control group (p < 0.029). Diagnostic hearing test results were found to be normal in all nine PKU patients who failed the secondary screening test and were referred to a tertiary center. CONCLUSION: In our study, it was determined that infants with phenylketonuria (PKU) who did not have any risk factors for hearing loss failed the hearing screening test significantly more than healthy infants.

Are decreased cocaine- and amphetamine regulated transcript and Agouti- related peptide levels associated Eating behavior in medication-free children with attention deficit and hyperactivity disorder?

This study aimed to investigate plasma levels of cocaine- and amphetamine-regulated transcript (CART), agouti-related protein (AgRP), cholecystokinin (CCK) and peptide YY (PYY) and their relationship with eating behaviors among children with attention deficit hyperactivity disorder (ADHD) and healthy controls. A total of 94 medication-free children with ADHD and 82 controls aged 8-14 years were included in this study. The Plasma levels of CART, AgRP, CCK and PYY were measured using enzyme-linked immunosorbent assay kits. The Children's Eating Behavior Questionnaire (CEBQ) was used to assess eating behaviors in children. CART and AgRP levels were found to be significantly lower in the ADHD group than in the control group, while CCK levels were found to be significantly higher in the ADHD group than in the control group. However, there was no significant difference in PYY levels between the groups. Compared to controls, those with ADHD demonstrated significantly higher scores on the CEBQ subscales of food responsiveness, emotional overeating, desire to drink, enjoyment of food, and food fussiness, and significantly lower scores on the slowness of eating subscale. CART was significantly correlated with emotional overeating and enjoyment of food scores, while AgRP was significantly correlated with emotional undereating scores. Covariance analysis was performed by controlling potential confounders such as body mass index, age and sex, and the results were found to be unchanged. It was concluded that CART, AgRP, and CCK may play a potential role in the pathogenesis of ADHD.

Evaluation of 601 children with multisystem inflammatory syndrome (Turk MISC study).

PURPOSE: Due to its link with the 2019 coronavirus, the multisystem inflammatory syndrome in children (MISC) has garnered considerable international interest. The aim of this study, in which MISC patients were evaluated multicenter, and the data of the third period of the Turk-MISC study group, to compare the clinical and laboratory characteristics and outcomes of MISC patients who did and did not require admission to an intensive care unit (ICU). METHODS: This retrospective multicenter observational study was carried out between June 11, 2021, and January 01, 2022. The demographics, complaints, laboratory results, system involvements, and outcomes of the patients were documented. RESULTS: A total of 601 patients were enrolled; 157 patients (26.1%) required hospitalization in the intensive care unit (ICU). Median age was 8 years (interquartile range (IQR) 4.5-11.3 years. The proportion of Kawasaki disease-like features in the ICU group was significantly higher than in the non-ICU group (56.1% vs. 43.2% p = 0.006). The ICU group had considerably lower counts of both lymphocytes and platelets (lymphocyte count 900 vs. 1280 cells × µL, platelet count 153 vs. 212 cells × 103/ µL, all for p< 0.001). C-reactive protein, procalcitonin, and ferritin levels were significantly higher in the ICU group (CRP 164 vs. 129 mg/L, procalcitonin 9.2 vs. 2.2 µg/L, ferritin 644 vs. 334 µg/L, all for p< 0.001). Being between ages 5-12 and older than 12 increased the likelihood of hospitalization in the ICU by four [95% confidence intervals (CI)1.971-8.627] and six times (95% CI 2.575-14.654), respectively, compared to being between the ages 0-5. A one-unit increase in log D-dimer (µg/L) and log troponin (ng/L) was also demonstrated to increase the need for intensive care by 1.8 (95% CI 1.079-3.233) and 1.4 times (95% CI 1.133-1.789), respectively.     Conclusion: By comparing this study to our other studies, we found that the median age of MISC patients has been rising. Patients requiring an ICU stay had considerably higher levels of procalcitonin, CRP, and ferritin but significantly lower levels of lymphocyte and thrombocyte. In particular, high levels of procalcitonin in the serum might serve as a valuable laboratory marker for anticipating the need for intensive care. WHAT IS KNOWN: • Lymphopenia and thrombocytopenia were an independent predictor factors in patients with MISC who needed to stay in intensive care unit. • The possibility of the need to stay in the intensive care unit in patients with MISC who had Kawasaki disease-like findings was controversial compared with those who did not. WHAT IS NEW: • A one-unit increase log D dimer and log troponin was demonstrated to require for intensive care unit by 1.8 and 1.4 times, respectively. • Serum procalcitonin levels had the best performance to predict stay in the intensive care unit stay.

Analysis of Ear Nose Throat Consultations Requested From the Pediatric Emergency Service in a Tertiary Hospital.

OBJECTIVE: The aim of this study is to examine the reasons and the methods of approach to the patients for the ear nose and throat (ENT) consultations requested from the patients who applied to the pediatric emergency department. METHODS: The files of 351 patients who applied to the pediatric emergency outpatient clinic and were asked for consultation from the ENT clinic were reviewed retrospectively. Demographic data, complaints on admission, diagnostic examinations, diagnoses, treatment methods, and hospitalizations were recorded. RESULTS: Of the patients included in the study, 190 (54.1%) were female and 161 (45.9%) were male. The median age of the patients was 4.0 years (3.0-8.0 years). The most common diagnoses after ENT examination are; 120 patients (34.2%) had foreign body (FB) in the nose, 58 patients (16.5%) had FB in the ear, 16 patients (4.6%) had FB in the throat, 16 patients (4.6%) had epistaxis, and 15 patients (4.3%) had Bell's palsy. According to age group, it was determined that FB in the nose and ear was more common in the 0- to 5- and 6- to 11-year age group, and Bell's palsy, FB in the ear and epistaxis were more common in the 12- to 17-year age group. A normal examination was also an important finding in 83 of the patients (23.6%). CONCLUSIONS: Foreign bodies are the most common reason for admission to the emergency services in children, and it is frequently seen between 0 and 5 years of age. Informing and raising awareness of parents on this topic will reduce both unwanted complications and ENT consultations along with admission to pediatric emergency services.

Our Neonatal Surgery Experiences in Somalia.

Purpose: The aim of this study is to report surgical outcomes of the neonates who have undergone various surgical procedures. Materials and Methods: In this retrospective study, 39 neonates who have undergone a surgical procedure in Mogadishu Somalia Turkey Recep Tayyip Erdogan Training and Research Hospital, between October 2018 and March 2019 were included. Data regarding age, gender, diagnosis, surgical procedure, length of hospital stay, mortality, and cause of mortality were recorded. Results: Of 39 neonates, 12 were female (30.7%) and 27 were male (69.3%). The mean age of the neonates at admission was 7.7 ± 7.6 days (1-30 days) days. The most common diagnoses were anal atresia (n = 12, 30.8%), esophageal atresia (n = 9, 23.1%), and pyloric stenosis (n = 5, 12.8%). The most common surgical procedures were colostomy creation (n = 10, 25.6%), esophageal anastomosis (n = 9, 20.5%), primary closure of anterior abdominal wall defects including bladder exstrophy (n = 6, 15.4%), and pyloromyotomy (n = 5, 12.8%). Mortality rate was 17.9%, and mortality causes were sepsis (n = 4, 57.1%) and congenital heart disease (n = 3, 42.9%). Neonates with the highest mortality by underlying primary surgical diagnosis were esophageal atresia (n=4, 57.1%). Conclusion: The mortality rate from the surgical procedures of the neonates in Somalia is extremely high when compared with the developed countries. Employment of experienced pediatric surgeons and well-trained nurses, strict attention to the sanitary measures and shortening the time from birth to presentation might improve the surgical outcomes of the neonates in Somalia.

Retrospective evaluation of inpatients admitted to a tertiary hospital in Somalia for Pediatric surgery.

Objective: The aim is to reflect on the epidemiology of the patient population at a tertiary hospital for pediatric surgery, diagnostic pattern, and mortality in Somalia retrospectively. Methods: In this study, 163 patient who were hospitalized to Pediatric Surgery Clinic of Mogadishu Somalia Turkey Recep Tayyip Erdogan Training and Research Hospital in 2018 were included. Data regarding age, gender, diagnosis, surgical condition, mortality rate and cause of the death were recorded from the patient charts and the institutional digital database. Results: Of 163 patients 47 were female (28.8%) and 116 were male (71.2%). The mean age of the patients was 6.4 ± 4.8 years. The main diagnoses were congenital malformation (34.4%), acute abdomen (25.8%), traumatic injury (23.3%), infection (9.8%) and neoplasm (6.1%). Mortality rate was 9.8% and the leading cause of death was sepsis by 87.5%. Perforated appendicitis, intestinal obstruction and intussusception were creating the 68.7% of the diseases that result in death. Conclusions: Our results show that two-thirds of the surgical deaths could be prevented with timely presentation. We think that the health policymakers in Somalia should focus on how to improve the access to surgical care, patient transfer, timely presentation, and training of pediatric surgeons and to overcome the poor surgical outcomes.

A Case of Multisystem Inflammatory Syndrome Due to SARS-CoV-2 Presenting With Acute Appendicitis Symptoms.

Multisystem Inflammatory Syndrome (MIS-C) in children associated with SARS-CoV-2 infection has a variable clinical presentation because it affects many systems. It can affect the cardiac, renal, respiratory, hematological, gastrointestinal, dermatological, and neurological systems. If left untreated, it causes fatal complications. In this case report, a five-year-old male patient was admitted to the pediatric emergency service with complaints of fever, nausea, vomiting, abdominal pain, and loss of appetite. Physical examination revealed tenderness, defense, and rebound in the right lower quadrant of the abdomen. On ultrasound, the diameter of the appendix was determined as 6.8 mm. The patient, who was operated on for acute appendicitis (AA), was re-evaluated after fever and vomiting did not resolve, and he was diagnosed with MIS-C. This case was presented to remind that MIS-C should be excluded before the diagnosis of AA in patients with fever for more than 24 hours, gastrointestinal symptoms, and findings of AA.

COVID-19 associated multisystemic inflammatory syndrome in 614 children with and without overlap with Kawasaki disease-Turk MIS-C study group.

Multisystemic inflammatory syndrome (MIS-C) diagnosis remains difficult because the clinical features overlap with Kawasaki disease (KD). The study aims to highlight the clinical and laboratory features and outcomes of patients with MISC whose clinical manifestations overlap with or without KD. This study is a retrospective analysis of a case series designed for patients aged 1 month to 18 years in 28 hospitals between November 1, 2020, and June 9, 2021. Patient demographics, complaints, laboratory results, echocardiographic results, system involvement, and outcomes were recorded. A total of 614 patients were enrolled; the median age was 7.4 years (interquartile range (IQR) 3.9-12 years). A total of 277 (45.1%) patients with MIS-C had manifestations that overlapped with KD, including 92 (33.3%) patients with complete KD and 185 (66.7%) with incomplete KD. Lymphocyte and platelet counts were significantly lower in patients with MISC, overlapped with KD (lymphocyte count 1080 vs. 1280 cells × µL, p = 0.028; platelet count 166 vs. 216 cells × 103/µL, p < 0.001). The median serum procalcitonin levels were statistically higher in patients overlapped with KD (3.18 vs. 1.68 µg/L, p = 0.001). Coronary artery dilatation was statistically significant in patients with overlap with KD (13.4% vs. 6.8%, p = 0.007), while myocarditis was significantly more common in patients without overlap with KD features (2.6% vs 7.4%, p = 0.009). The association between clinical and laboratory findings and overlap with KD was investigated. Age > 12 years reduced the risk of overlap with KD by 66% (p < 0.001, 95% CI 0.217-0.550), lethargy increased the risk of overlap with KD by 2.6-fold (p = 0.011, 95% CI 1.244-5.439), and each unit more albumin (g/dl) reduced the risk of overlap with KD by 60% (p < 0.001, 95% CI 0.298-0.559). CONCLUSION: Almost half of the patients with MISC had clinical features that overlapped with KD; in particular, incomplete KD was present. The median age was lower in patients with KD-like features. Lymphocyte and platelet counts were lower, and ferritin and procalcitonin levels were significantly higher in patients with overlap with KD. WHAT IS KNOWN: • In some cases of MIS-C, the clinical symptoms overlap with Kawasaki disease. • Compared to Kawasaki disease, lymphopenia was an independent predictor of MIS-C. WHAT IS NEW: • Half of the patients had clinical features that overlapped with Kawasaki disease. • In patients whose clinical features overlapped with KD, procalcitonin levels were almost 15 times higher than normal. • Lethargy increased the risk of overlap with KD by 2.6-fold in MIS-C patients. • Transient bradycardia was noted in approximately 10% of our patients after initiation of treatment.

Analysis of Newborn Hearing Screening Test Results of Children with Down Syndrome.

AIM: The aim of this study was to analyze newborn hearing screening test results of children with Down syndrome (DS). METHODS: The files of 84 children with DS and 84 healthy children (control group) admitted to the Pediatrics Polyclinics of the Konya Training and Research Hospital between January 2017 and June 2020 were retrospectively reviewed. RESULTS: Thirty-one of the 84 babies with DS were female (36.9%), and 53 were male (63.1%); 37 of the 84 babies in the control group were female (44%), and and 47 were male (56%) (P = .346). Fortty-eight (57.1%) of the 84 babies with DS and 17 (20.2%) of the 84 babies in the control group failed the first screening test (P < .001). It was determined that 24 (50%) of the 48 infants with DS who failed the first test also failed the second test and were referred, and all 17 infants in the control group who failed the first test passed the second test (P < .001). There was no significant difference in terms of birth weight, gestational week, and maternal age between infants with DS who failed and passed after the second screening test (P > .05 for all). CONCLUSION: Our study shows that birth weight, gestational age, and maternal age do not pose an additional risk for hearing loss in DS babies who do not have known risk factors for hearing loss.

Ischemic Stroke in a 6-Month-Old Child Presenting with Hemiplegia: A Rare Case Report.

Ischemic stroke is a clinical condition resulting from a decrease in blood flow to the brain. It is rare in children, especially more rare in infants. The symptoms in the patients vary according to the age of the patient and the affected vessel. Diagnosis of pediatric stroke is not simple and requires neuroimaging reference. If the diagnosis is delayed and the treatment is not started as soon as possible, the probability of disability or death of the patient increases. In this report, we present a 6-month-old girl with hemiplegia, who was admitted to the emergency department with a complaint of not able to move her left side and who was diagnosed as ischemic stroke. Our case is the youngest ischemic stroke detected in infant period that we know of in the literature. In this case report, we aimed to remind that ischemic stroke is one of the causes of neurological symptoms occurring during infant period.

Newborn hearing screening results of refugees living in our city and the factors affecting the results.

OBJECTIVES: To investigate the changes in the risk factors affecting the results of the Newborn Hearing Screening (NHS) and the hearing test results of the Syrian refugees in our city. METHODS: Syrian and Turkish newborns, born in our hospital between 01.01.2016 and 31.12.2017 and referred to our hospital from environmental hospitals for NHS, were included in this study. NHS results and risk factors were analyzed. RESULTS: 786 Syrian and 7230 Turkish newborns were included in this study. 53 (6,74%) infants referred in both ears, 26 (3,30%) infants in the one ear. There was a significant relationship between the presence of hearing loss and the history of intensive care unit admittance, presence and absence of low birth weight and neonatal icterus at Syrian newborns. In the same period, 20 (0,3%) Turkish infants referred bilaterally and 45 (0,6%) newborns unilaterally (25 right ear, 20 left ear). There was a significant difference between Turkish and Syrian newborns in terms of very low and low birth weight and intensive care unit admittance. CONCLUSIONS: The rate of hearing loss in Syrian refugee patients is quite high. Pregnant refugee women who are forced to migrate because of war face many risk factors and these people need to be included into the newborn hearing screening programs in the country where they took refuge in.