Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.

BACKGROUND: Trichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral nutrition (TPN). In addition, other characteristic findings of the syndrome include growth retardation, facial dysmorphism, hair abnormalities, various immunological problems and other rare system findings. Two genes and their associated pathogenic variants have been associated with this syndrome: SKIC3 and SKIC2. METHODS AND RESULTS: In this case series, the clinical findings and molecular analysis results of a total of 8 patients from 5 different families who presented with persistent diarrhea and were diagnosed with THES were shared. Pathogenic variants were detected in the SKIC3 gene in 6 of our patients and in the SKIC2 gene in 2 patients. It was planned to compare the clinical findings of our patients with other patients, together with literature data, and to present yet-undefined phenotypic features that may be related to THES. In our case series, in addition to our patients with a novel variant, patient number 2 had a dual phenotype (THES and Spondyloepimetaphyseal dysplasia, sponastrime type) that has not been reported yet. Delay in gross motor skills, mild cognitive impairment, radioulnar synostosis, osteoporosis, nephropathy and cystic lesions (renal and liver) were observed as unreported phenotypic findings. CONCLUSIONS: We are expanding the clinical and molecular repertoire of the syndrome regarding patients diagnosed with THES. We recommend that the NGS (next-generation sequencing) multigene panel should be used as a diagnostic tool in cases with persistent diarrhea.

Molsidomine decreases hyperoxia-induced lung injury in neonatal rats.

BACKGROUND: The study's objective is to evaluate if Molsidomine (MOL), an anti-oxidant, anti-inflammatory, and anti-apoptotic drug, is effective in treating hyperoxic lung injury (HLI). METHODS: The study consisted of four groups of neonatal rats characterized as the Control, Control+MOL, HLI, HLI + MOL groups. Near the end of the study, the lung tissue of the rats were evaluated with respect to apoptosis, histopathological damage, anti-oxidant and oxidant capacity as well as degree of inflammation. RESULTS: Compared to the HLI group, malondialdehyde and total oxidant status levels in lung tissue were notably reduced in the HLI + MOL group. Furthermore, mean superoxide dismutase, glutathione peroxidase, and glutathione activities/levels in lung tissue were significantly higher in the HLI + MOL group as compared to the HLI group. Tumor necrosis factor-α and interleukin-1ß elevations associated with hyperoxia were significantly reduced following MOL treatment. Median histopathological damage and mean alveolar macrophage numbers were found to be higher in the HLI and HLI + MOL groups when compared to the Control and Control+MOL groups. Both values were increased in the HLI group when compared to the HLI + MOL group. CONCLUSIONS: Our research is the first to demonstrate that bronchopulmonary dysplasia may be prevented through the protective characteristics of MOL, an anti-inflammatory, anti-oxidant, and anti-apoptotic drug. IMPACT: Molsidomine prophylaxis significantly decreased the level of oxidative stress markers. Molsidomine administration restored the activities of antioxidant enzymes. Molsidomine prophylaxis significantly reduced the levels of inflammatory cytokines. Molsidomine may provide a new and promising therapy for BPD in the future. Molsidomine prophylaxis decreased lung damage and macrophage infiltration in the tissue.

Combined (dual) drug therapy for the treatment of patent ductus arteriosus: last approach prior to ligation.

OBJECTIVE: We aimed to evaluate the efficacy of combined (ibuprofen+paracetamol) medical therapy in cases of persistent haemodynamically significant patent ductus arteriosus that are resistant to standard medical monotherapy (ibuprofen and/or paracetamol) in this retrospective multi-centre study. METHODS: The combined therapy included the administration of 15mg/kg/dose of paracetamol every 6 h for 3 days and ibuprofen at an initial dose of 10mg/kg/dose followed by 5 mg/kg/dose every 24 h. After 2 days following the administration of the last dose, the researchers evaluated the efficacy of combined treatment by conducting an echocardiographic examination. RESULTS: Of all 42 patients who received combined therapy, 37 (88.1%) patients exhibited closure of the haemodynamically significant patent ductus arteriosus without requiring surgical ligation. Patients who did not respond to combined therapy had a higher mean birth weight and gestational age compared to those who responded (p < 0.05). CONCLUSION: The researchers believe the success of ibuprofen and paracetamol in haemodynamically significant patent ductus arteriosus treatment may be due to their synergistic efficacy and inhibition of the prostaglandin synthesis pathway through different enzymes. The results of our retrospective trial suggest that combination therapy with paracetamol and ibuprofen can be attempted when monotherapy is unsuccessful in treating haemodynamically significant patent ductus arteriosus, especially in centres without a surgical department.

Neurodevelopmental evaluation of newborns who underwent hypothermia with a diagnosis of hypoxic ischemic encephalopathy based on the Bayley-III scale.

Background/aim: Hypoxic ischemic encephalopathy (HIE) is one of the common causes of mortality and morbidity in newborns. Despite therapeutic hypothermia, an important treatment with proven efficacy, the morbidity and mortality rates remain high. The aim of this study was to neurodevelopmentally evaluate patients who underwent therapeutic hypothermia. Material and method: Included herein were patients who underwent hypothermia between 2018 and 2020. Their medical files were reviewed retrospectively, and their demographic and clinical information was recorded. Patients whose contact information was available were called to the developmental pediatrics outpatient clinic for a neurodevelopmental evaluation. The Bayley Scales of Infant and Toddler Development 3rd Edition (Bayley-III) was used as the evaluation tool. Laboratory values and clinical parameters of the patients were further analyzed. Results: It was found that 42 patients underwent hypothermia in 3 years, of whom 14 (33.3%) had died. Of the 28 patients who were discharged, 20 children could be reached, and a neurodevelopmental evaluation was performed. Developmental delay in the cognitive area was detected in 11 (55%) patients, delay in the language area was found in 9 (45%) patients, and delay in the motor area was found in 11 (55%) patients. The correlation and regression analysis results determined that the time to start cooling was the most effective common factor in all 3 fields of scoring. Conclusion: The time to start cooling is related to the neurodevelopmental outcomes of patients with HIE. The earlier cooling is started, the better the neurodevelopmental results. Despite therapeutic hypothermia, the neurodevelopmental development of infants may be adversely affected. These patients should be followed-up neurodevelopmentally for a long time.

Impact of atrial flow regulator (AFR) implantation on 12-month mortality in heart failure : Insights from a single site in the PRELIEVE study.

BACKGROUND: Implantation of the atrial flow regulator (AFR) to create an interatrial left-to-right shunt has been shown to be safe and feasible to reduce intracardiac filling pressures in patients with heart failure (HF). OBJECTIVES: We aimed to assess the effect of AFR implantation on 12-month mortality and hospitalization rates in patients with reduced (HFrEF) or preserved HF (HFpEF). METHODS: One-year follow-up data from 34 subjects enrolled at a single PRELIEVE center were analyzed. The 12-month predicted mortality was calculated using the Meta-Analysis Global Group in Chronic Heart Failure (MAGGIC) risk score. Patients were divided into two groups, according to their history of hospitalizations for HF. RESULTS: Study data of 34 patients (HFrEF: 24 [70.6%]; HFpEF: 10 [29.4%]) were assessed. Median follow-up duration was 355 days. In total, 14 (41.2%) patients were hospitalized during the follow-up period and 6 (17.6%) of these patients were hospitalization for HF (HHF). A total of 24 hospitalizations occurred in this period and 8 (33%) hospitalizations were for HHF. The median baseline MAGGIC score was 23 and the median predicted mortality was 13.4/100 patient years. Observed mortality was 3.1/100 patient years. The observed survival (97%) was 10.3% (95% confidence interval 3.6-17.5%, p = 0.004) better than the predicted survival (86.6%). CONCLUSION: Our results suggest that AFR implantation has favorable effects on mortality in patients with heart failure, regardless of ejection fraction. Furthermore, compared to baseline, left ventricular filling pressure (assessed by echocardiography) decreased significantly without right side volume overload at the 1­year follow-up.

Mortality related factors on hypoxic ischemic encephalopathic patients treated with therapeutic hypothermia: an 11-year single-center experience.

BACKGROUND: Hypoxic-ischemic encephalopathy (HIE) is a condition that may cause multiple organ dysfunction and has a high rate of mortality and morbidity. Therapeutic hypothermia is the only proven treatment that decreases the sequel and mortality rate of neonates that are born after 36 weeks of pregnancy and have moderate-severe HIE. METHODS: Our study was a single-center, retrospective study that includes newborns (gestational age ≥ 36 weeks) who underwent therapeutic hypothermia due to hypoxic-ischemic encephalopathy between 2010 and 2020. We evaluated 125 patients who were diagnosed with moderate to severe HIE and received therapeutic hypothermia. Demographic and clinical data were obtained from electronic medical records and patient files. The patients were separated into two groups as exitus group (n = 39) and discharged group (n = 86). We aimed to evaluate factors affecting mortality. RESULTS: We determined that the median resuscitation times were longer in the delivery room [retrospectively, 10th minutes (0-30) vs. 1 min (0-20), p < 0.05], the tenth min APGAR scores were lower [respectively, 4 (0-7) vs. 6 (3-10), p < 0.05], and the median pH value in the first blood gas taken was lower [respectively, 6.87 (6.4-7.14) vs. 6.90 (6.58-7.12), p < 0.05] in the exitus group. We also determined that multiple organ dysfunction is seen more often in the exitus group. DISCUSSION: This study demonstrated that the depth of acidosis in the blood gas, multiple organ dysfunction, and the existence of early-onset seizures are the signs of poor prognosis. Therefore, physicians need to be aware of such prognostic factors to follow these patients more closely in terms of possible complications and to inform their parents.

The impact of hydroxychloroquine-azithromycin combination on Tpeak-to-end and Tpeak-to-end/QT ratio during a short treatment course.

BACKGROUND: Since there was no proven treatment of coronavirus disease 2019 (COVID-19), hydroxychloroquine-azithromycin (HCQ-AZM) combination is being used in different countries as a treatment option. Many controversies exist related to the safety and effectiveness of this combination, and questions about how HCQ-AZM combination affects the ventricular repolarization are still unknown. OBJECTIVE: The aim of the study was to show whether the hydroxychloroquine-azithromycin (HCQ-AZM) combination prolonged Tpeak-to-end (TpTe) duration and TpTe/QT interval ratio or not. METHODS: One hundred and twenty-six consequent COVID-19(+) patients meeting the study criteria were enrolled in this study. Baseline ECGs were obtained immediately after hospitalization and before commencing the HCQ-AZM combination. On-treatment ECG was obtained 24-48 hr after the loading dose of HCQ/AZM. ECG parameters including PR interval, QRS duration, QT interval, QTc interval, TpTe duration, and TpTe/QT interval ratio were assessed. Demographic and laboratory findings were collected from an electronic recording system. RESULTS: ECGs of 126 COVID-19(+) patients who received HCQ-AZM combination were assessed. Mean baseline QTc (by Fridericia formula), TpTe, and TpTe/QT ratio were 420.0 ± 26.5 ms, 82.43 ± 9.77 ms, and 0.22 ± 0.02, respectively. On-treatment QTc, TpTe and TpTe/QT ratio were 425.7 ± 27.18 ms, 85.17 ± 11.17 ms, and 0.22 ± 0.03, respectively. No statistically significant acute impacts of HCQ-AZM combination on TpTe duration and TpTe/QT interval ratio were observed compared with baseline values. No ventricular tachycardia/fibrillation and the significant conduction delays were seen during in-hospital follow-up. CONCLUSION: HCQ-AZM combination increased TpTe duration. However, no significant impact on TpTe/QT interval ratio was observed.

Neurological Manifestations of Pediatric Acute COVID Infections: A Single Center Experience.

BACKGROUND: Coronavirus disease 2019 (COVID-19) usually leads to a mild infectious disease course in children, while serious complications may occur in conjunction with both acute infection and neurological symptoms, which have been predominantly reported in adults. The neurological complications in these patients vary based on patient age and underlying comorbidities. Data on clinical features, particularly neurological features, and prognostic factors in children and adolescents are limited. This study provides a concise overview of neurological complications in pediatric COVID-19 cases. MATERIALS AND METHODS: The retrospective study reviewed medical records of all patients who were admitted to our hospital and were diagnosed with COVID-19 by real-time reverse-transcription polymerase-chain-reaction (RT-PCR) assay between 11 March 2020 and 30 January 2021. Patients with a positive PCR result were categorized into two groups: outpatient departments patients and inpatient departments (IPD). RESULTS: Of the 2530 children who underwent RT-PCR during the study period, 382 (8.6%) were confirmed as COVID-19 positive, comprising 188 (49.2%) girls and 194 (50.8%) boys with a mean age of 7.14±5.84 (range, 0-17) years. Neurological complications that required hospitalization were present in 34 (8.9%) patients, including seizure (52.9%), headache (38.2%), dizziness (11.1%) and meningoencephalitis (5.8%). CONCLUSION: The results indicated that neurological manifestations are not rare in children suffering from COVID-19. Seizures, headaches, dizziness, anosmia, ageusia and meningoencephalitis are major neurological manifestations during acute COVID-19 disease. Although seizures were the most common cause of hospitalization in IPD patients, the frequency of meningoencephalitis was quite high. Seizures were observed as febrile seizures for children under 6 years of age and afebrile seizures for those over 6 years of age. Febrile seizure accounted for half of all seizure children.

The impact of atrial flow regulator implantation on hemodynamic parameters in patients with heart failure.

Background    Left atrial decompression has emerged a new option to treat patients with heart failure and dyspnea at rest or during exercise. Here we report the impact of atrial flow regulator (AFR) implantation on hemodynamic parameters in patients at our center with heart failure and with reduced (HFrEF) or with preserved left ventricular ejection fraction (HFpEF).Material and methods    The PRELIEVE trial is designed to assess the safety and efficacy of the AFR in patients with HFrEF or HFpEF. Patients with left ventricular end-diastolic pressure ≥15 mmHg at rest or ≥25 mmHg during exercise and with an ejection fraction ≥15 % were enrolled. Echocardiographic data, 6­min walking distance, Kansas City Cardiomyopathy Questionnaire, and brain natriuretic peptide levels were assessed pre- and post-AFR implantation and at 3 mos. Invasive hemodynamic assessments were also performed pre- and post-AFR implantation and at 3 mos.Results    27 (69.2 %) patients with HFrEF and 12 (30.8 %) patients with HFpEF at our center were enrolled in this study. A significant decrease was observed in pulmonary arterial wedge pressure regardless of EF (p=0.007 for HFrEF and p=0.03 for HFpEF). No significant difference of mean pulmonary arterial pressure, right arterial pressure and cardiac output (CO) existed at 3 months compared with pre-implantation baseline values.Conclusion    AFR implantation led to decrease in left ventricle filling pressure without the deleterious impact on CO and right heart function regardless of ejection fraction.

The effect of 5-day course of hydroxychloroquine and azithromycin combination on QT interval in non-ICU COVID19(+) patients.

BACKGROUND: The combination of Hydroxychloroquine (HCQ) and azithromycin showed effectiveness as a treatment for COVID-19 and is being used widely all around the world. Despite that those drugs are known to cause prolonged QT interval individually there is no study assessing the impact of this combination on electrocardiography (ECG). This study aimed to assess the impact of a 5-day course of HCQ and azithromycin combination on ECG in non-ICU COVID19(+) patients. METHODS: In this retrospective observational study, we enrolled 109 COVID19(+) patients who required non-ICU hospitalization. All patients received 5-day protocol of HCQ and azithromycin combination. On-treatment ECGs were repeated 3-6 h after the second HCQ loading dose and 48-72 h after the first dose of the combination. ECGs were assessed in terms of rhythm, PR interval, QRS duration, QT and QTc intervals. Baseline and on-treatment ECG findings were compared. Demographic characteristics, laboratory results were recorded. Daily phone call-visit or bed-side visit were performed by attending physician. RESULTS: Of the 109 patients included in the study, the mean age was 57.3 ± 14.4 years and 48 (44%) were male. Mean baseline PR interval was 158.47 ± 25.10 ms, QRS duration was 94.00 ± 20.55 ms, QTc interval was 435.28 ± 32.78 ms, 415.67 ± 28.51, 412.07 ± 25.65 according to Bazett's, Fridericia's and Framingham Heart Study formulas respectively. ∆PR was -2.94 ± 19.93 ms (p = .55), ∆QRS duration was 5.18 ± 8.94 ms (p = .03). ∆QTc interval was 6.64 ± 9.60 ms (p = .5), 10.67 ± 9.9 ms (p = .19), 14.14 ± 9.68 ms (p = .16) according to Bazett's, Fridericia's and Framingham Heart Study formulas respectively. There were no statistically significant differences between QTc intervals. No ventricular tachycardia, ventricular fibrillation or significant conduction delay was seen during follow-up. There was no death or worsening heart function. CONCLUSION: The 5-day course of HCQ- AZM combination did not lead to clinically significant QT prolongation and other conduction delays compared to baseline ECG in non-ICU COVID19(+) patients.

MicroRNA 199a Is Downregulated in Patients After Coronary Artery Bypass Graft Surgery and Is Associated with Increased Levels of Sirtuin 1 (SIRT 1) Protein and Major Adverse Cardiovascular Events at 3-Year Follow-Up.

BACKGROUND The cardioprotective protein SIRT1 is elevated in patients with coronary artery disease (CAD) to compensate for the disease-related adverse effects, but less is known about the prognostic role of SIRT 1 regulating microRNAs in patients after coronary artery bypass graft (CABG) surgery. MATERIAL AND METHODS The expression of the SIRT 1-specific microRNAs miR-199a and miR-195 was analyzed using real-time PCR in 68 patients referred for CABG surgery and 34 control patients undergoing heart valve surgery. In CABG patients, major adverse cardiac and cerebrovascular events (MACCEs), including all-cause death, myocardial infarction (MI), re-vascularization, heart failure symptoms ≥NYHA II, re-hospitalization for any cardiovascular reason, and stroke, were analyzed at a median follow-up (FU) of 3.2 years (range: 3.0-3.6). RESULTS The level of miR-199a in patients with CAD was significantly reduced compared to the control group (relative expression: 0.89±0.49 vs. 1.90±0.90, p=0.001), while SIRT 1 protein was markedly enhanced (p<0.001). In patients undergoing CABG who had MACCEs, miR-199a was significantly lower compared to patients with an uneventful FU (0.71±0.25 vs. 0.98±0.53, p=0.007). Heart failure status, death, and total MACCEs rate were inversely correlated with the amount of miR-199a (p=0.039) at 3-year FU. CONCLUSIONS Altered expression of miR-199a in myocardial tissue was found to be associated with SIRT 1 upregulation in patients with CAD undergoing CABG and was associated with an increased MACCEs rate at mid-term follow-up.

Risk factors and mortality rate in premature babies with acute kidney injury.

BACKGROUND: Acute kidney injury (AKI) is a common morbidity in neonatal intensive care units and associated with poor outcome. This study aimed to determine the prevalence of AKI and provide a demographic data and risk factors associated with the mortality and morbidity. METHODS: This is a retrospective study included 105 premature babies. Diagnosis of AKI was based on neonatal KDIGO classification criteria. The babies were stratified into two groups according to AKI status during the hospitalization. Clinical and laboratory characteristics of the AKI group were compared to non-AKI group. RESULTS: AKI occurred in 21 (20.0%) of 105 premature babies, and mortality rate in these babies was 61.9%. Lower gestational weeks, lower Apgar scores at 5 minutes, lower systolic blood pressures, and inotropic supports were independent risk factors for the development of AKI in preterm babies (P < .05, for each). Oliguria, preeclampsia/eclampsia, resuscitation at birth, lower diastolic blood pressure, patent ductus arteriosus (PDA), inotropic support, and furosemide treatment were associated with the mortality (P < .05, for each). CONCLUSIONS: Prenatal risk factors and medical interventions are associated with AKI, and AKI is associated with increased morbidity and mortality. Therefore, identification of AKI is very important in this vulnerable population and it should be performed as quickly as possible in all babies who are at high risk for developing of AKI.

The evaluation of non-ischemic dilated cardiomyopathy with T1 mapping and ECV methods using 3T cardiac MRI.

PURPOSE: The aim of this study was to examine the correlation between ventricular function and the extracellular volume fraction (ECV) in patients with non-ischemic dilated cardiomyopathy (NIDCM) using 3.0 T magnetic resonance imaging (MRI). We also hypothesized that native T1 and ECV values would be increased in patients with NIDCM, independent of the left ventricular ejection fraction (LVEF). The findings of our study could lead to further studies of the follow-up protocols. MATERIALS AND METHODS: In total, 53 consecutive dilated cardiomyopathy patients who had undergone cardiac MRI were functionally evaluated and underwent tissue characterization. RESULTS: The mean native T1 value was 1235 ± 10 ms, and the mean ECV value was 35.4 ± 2.7% in the myocardia. The LVEF values ranged from 29 to 44%. No significant correlations were observed between functional analysis measurements and native T1 or ECV values. CONCLUSIONS: Our results showed that myocardial fibrosis is unrelated to cardiac functional findings in NIDCM patients. Therefore, we propose that these patients should be evaluated using MRI and tissue characterization techniques, in addition to cardiac functional analysis.

Patient characteristics and statin discontinuation-related factors during treatment of hypercholesterolemia: an observational non-interventional study in patients with statin discontinuation (STAY study).

OBJECTIVE: The purpose of this study was to identify patient characteristics and statin discontinuation-related factors in patients with hypercholesterolemia. METHODS: A total of 532 patients (age mean±SD: 57.4±11.5 years; 52.4% women, 47.6% men) with hypercholesterolemia and statin discontinuation were included in this national cross-sectional non-interventional observational study. Data on socio-demographic characteristics of patients, cardiovascular risk factors, past treatment with and discontinuation of statin treatment were collected in one visit. RESULTS: Mean±SD duration of hypercholesterolemia was 4.9±4.2 years at time of discontinuation of statin treatment. Statin treatment was initiated by cardiologists in the majority of cases (55.8%), whereas discontinuation of statin treatment was decided by patients in the majority of cases (73.7%), with patients with higher (at least secondary education, 80.4%) more likely than those with lower (only primary education, 69.7%) to decide to discontinue treatment (p=0.022). Negative information about statin treatment disseminated by TV programs-mostly regarding coverage of hepatic (38.0%), renal (33.8%), and muscular (32.9%) side effects (32.9%)-was the most common reason for treatment discontinuation. CONCLUSION: The decision to discontinue statin treatment was made at the patient's discretion in 74% of cases, with higher likelihood of patients with higher educational status deciding to discontinue treatment and switch to non-drug lipid-lowering alternatives. Cardiologists were the physicians most frequently responsible for the initiation of the statin treatment; coverage of several non-life-threatening statin side effects by TV programs and patients' lack of information regarding high cholesterol and related risks were the leading factors predisposing to treatment discontinuation.

Human milk banking and milk kinship: Perspectives of mothers in a Muslim country.

AIM: The present study aims to determine the knowledge, attitudes and views of mothers regarding infant feeding, breast milk, wet-nursing, milk kinship and human milk banks. METHODS: This descriptive cross-sectional study was composed of 1042 mothers who delivered at two different hospitals in Turkey. RESULTS: Almost half of the participating mothers, 49.9%, agreed with the establishment of alternative HMBs in Turkey. Only 7.7% of the mothers in this study expressed views in favour of the establishment of Western-style HMBs. Approximately half of the mothers (42.4%) indicated that they were against the establishment of any kind of HMBs in Turkey. Only 9.2% of the mothers in this study stated that they would volunteer to donate their breast milk to the Western-style HMBs, and only 6.9% of the mothers approved obtaining milk from this type of HMB. Finally, 44.2% of the mothers stated that they would donate their breast milk to the alternative HMBs, and 31.9% of the mothers approved obtaining milk from this type of HMB. CONCLUSION: This is the first study conducted among mothers in a Muslim community about issues such as infant feeding, breast milk, wet-nursing, milk kinship and HMBs. The majority of the mothers in this study are against the establishment of Western-style HMBs, whereas they have a more positive response to an alternative HMB when their religious concerns are relieved.

Is folic acid supplementation really necessary in preterm infants ≤ 32 weeks of gestation?

OBJECTIVES: The aim of this study was to define whether there was folate deficiency in hospitalized preterm infants, and, second, to define the effect of feeding modalities on serum folate levels. METHODS: Infants born ≤ 32 weeks of gestation were included in the study. Blood samples for the determination of serum folate levels were obtained on days 14 and 28 postnatally, as well as 36 weeks postconceptionally (or just before discharge if patients are discharged <36 weeks)--samples A, B, and C, respectively. Infants were divided into 3 groups based on mode of feeding; human breast milk (HBM), fortified HBM (fHBM), or preterm formula (PF). RESULTS: A total of 162 preterm infants were enrolled: 17 (10.5%) of whom received HBM alone, 94 (58%) received fHBM, and 51 (31.5%) were fed with PF. None of the preterm infants developed folate deficiency during the study period. Preterm infants in the fHBM and PF groups had significant higher serum folate levels in samples C when compared with those receiving HBM alone (P < 0.001 for both). Multivariate analysis to evaluate the effects of maternal supplementation, smoking habit, gestational age, birth weight, and cumulative folic acid intake in samples A, B, and C suggested that maternal smoking and maternal folic acid supplementation had significant effects on serum folate levels in sample A and B. CONCLUSIONS: Preterm infants receiving parenteral nutrition with high folic acid content have no risk of folate deficiency during the 2 months of age; however, preterm infants fed orally from birth with HBM or PF with a low folic acid content could be at risk for folate deficiency, especially when mothers are smokers and/or do not receive folic acid supplementation during pregnancy.

Beneficial effects of Etanercept on experimental necrotizing enterocolitis.

PURPOSE: Tissue damage in necrotizing enterocolitis (NEC) of infants occurs as a result of an uncontrolled inflammatory response. The aim of this study was to investigate any potential anti-inflammatory effects that Etanercept may have on the inflammatory response in an experimental NEC model in newborn rats. METHODS: Newborn pups were randomized into three groups immediately after birth (Control, NEC + Placebo and NEC + Etanercept). Pups in the NEC + Placebo and NEC + Etanercept groups were subjected to an NEC-inducing protocol (hypercarbia, hypothermia and hyperoxia) twice a day for 3 days. Pups in the NEC + Etanercept group were given an intraperitoneal injection of Etanercept. Rats were harvested for biochemical and histopathological examinations. RESULTS: The histopathological injury score of rats in the NEC + Placebo group was significantly higher compared to the NEC + Etanercept and Control groups (p < 0.05 for both comparisons). Tissue levels of tumor necrosis factor-α, interleukin-1ß, and malondialdehyde were higher in the placebo group compared to the Etanercept group. CONCLUSION: Our results suggest that Etanercept attenuates intestinal tissue damage in NEC by reducing inflammation and blocking the production of free-oxygen radicals, while also reducing tissue levels of tumor necrosis factor-α and interleukin-1ß.

A preliminary comparison of fluent and non-fluent speech through Turkish predictive cluttering inventory-revised.

PURPOSE: The aim of this study is to compare the speech fluency performance of non-fluent participants namely people with stuttering (PWS), people with cluttering (PWC) and people with cluttering and stuttering (PWCS) with a fluent control group using the Turkish version of Predictive Cluttering Inventory-revised (TR-PCI-r). METHODS: The study recruited non-fluent individuals (n = 60) and fluent controls (n = 60) between the ages of 6 and 55. The non-fluent group was perceptually evaluated by two speech and language pathologists (SLP). The speaking, reading and retelling samples were collected from 18 PWC, 17 PWCS, 25 PWS and 60 controls. The scores of each factor were compared. Age and gender differences were analyzed. Validity and reliability were calculated. RESULTS: The agreement between two SLPs was found to be at the barely acceptable level (κ = 0.378). PWC and PWCS produced parallel outcomes in the speech motor area. In every other domain and in total scores, PWC were different from PWCS, PWS, and the controls. There was a variation in the total scores obtained by the children and adolescents in the PWS and between males and females in the controls. Except for three items (namely items 8, 22, 27), TR-PCI-r met the content validity criterion. Furthermore, TR-PCI-r was found to be a reliable tool as shown by ɑ> 0.70 and ICC values of between 0.75 and 0.90. CONCLUSION: The scores from TR-PCI-r indicated that, speech motor characteristics of PWC and PWCS were similar. Other features assessed by the tool seemed to distinguish PWC from PWCS, PWS and controls.

Long-term mortality outcomes and mortality predictors in patients with myelomeningocele.

OBJECTIVE: Despite advances, myelomeningocele remains a major cause of mortality and disability. This study aims to analyze factors influencing mortality and suggest ways to reduce it. METHODS: We reviewed 173 patients who underwent surgery for myelomeningocele from January 2010 to December 2021. Variables affecting mortality were categorized into patient-related and indirectly related factors. Data were collected through patient file reviews and phone interviews with parents. RESULTS: Mortality is influenced by multiple factors: female gender (3.2-fold increase), paraplegia (3.1-fold increase), absence of tethered cord release surgery (9.4-fold increase), scoliosis (4.2-fold increase), and renal failure (5.28-fold increase). Defect size and father's education level also significantly impact mortality. The overall mortality rate was 20.8 %, with hydrocephalus being the leading cause. CONCLUSION: Mortality and disability in myelomeningocele patients remain high, with over 50 % of deaths being preventable. Effective management could significantly improve mortality rates. Long-term studies are crucial for advancing research in this field.

Comparison of two different Nasal Interfaces used in Non-Invasive Respiratory support in terms of Neonate comfort.

Background: Non-Invasive Ventilation (NIV) is the first choice approach in neonates with sufficient respiratory effort that require respiratory support. The type of nasal interface used in NIV affects both efficacy and patient comfort. The aim of this study is to investigate the effects of different nasal interfaces used in NIV support on neonatal patient comfort. Methods: Our study evaluated patients who received NIV support for 24 hours. The patients were randomly divided into two groups according to the type of nasal interface used, which were RAM cannula and short binasal prong (SBP). The patients' demographic and clinical data were noted. Their sleep was monitored for 24 hours with an actigraphy device. Results: A total of 82 patients were evaluated. The sleep efficiency in the RAM cannula group was significantly higher (respectively, 65.7% [10.22-95.25] vs. 57.81% [2.49-77], p=0.004). Although not statistically significant, the neonates in the RAM cannula group exhibited longer total sleep time (respectively, 10.4 ± 4.28 hours vs. 9.02 ± 3.73 hours, p=0.161). Comparison of heart rates and respiratory rates indicate that the patients in the RAM cannula group were more comfortable. Conclusions: Our study found that infants who received NIV support through a RAM cannula experienced more efficient sleep. Holistic approaches in neonatal intensive care units are vital for better neurodevelopmental outcomes in newborns. Although non-invasive, the interface used in NIV should also be a part of this holistic approach.