The effect of non-invasive high-frequency oscillatory ventilation on the duration of non-invasive respiratory support in late preterm and term infants with transient tachypnea of the newborn: a randomized controlled trial.

Nasal continuous positive airway pressure (nCPAP) is one of the most commonly used non-invasive respiratory support modes in neonates with transient tachypnea of the newborn (TTN). Non-invasive high-frequency oscillatory ventilation (nHFOV) is a non-invasive respiratory support mode that has been increasingly used in neonatal respiratory disorders. This prospective randomized controlled study compared the efficacy of nHFOV and nCPAP in reducing the duration of non-invasive respiratory support. Late preterm and term infants > 34 weeks' gestation were included in the study. The infants were randomly assigned to receive either nHFOV or nCPAP. Treatment was started with standard settings in both groups. Infants who met treatment failure criteria were switched to nasal intermittent mandatory ventilation for further positive-pressure support. A total of 60 infants were included in the study. Thirty of these infants were included in the nHFOV group and 30 were included in the nCPAP group. The median duration of non-invasive respiratory support was not significantly different between the two groups (21 h [IQR: 16-68] for nHFOV vs 15 h [IQR: 11-33] for nCPAP; p = 0.09). However, after adjusting for potential confounders, nHFOV was associated with a shorter duration of non-invasive respiratory support than nCPAP (adjusted mean difference: 16.3 h; 95% CI: 0.7 to 31.9; p = 0.04). nHFOV was well tolerated and did not increase the risk of complications.    Conclusion: Our findings suggest that nHFOV is an effective and safe ventilation mode for late preterm and term neonates with TTN.   Trial registry: Clinicaltrials.gov (NCT03006354). Date of registration: December 30, 2016. What is Known: • nHFOV is a ventilation model that has been increasingly used for the management of RDS. • TTN is one of the most common causes of neonatal respiratory distress. What is New: • nHFOV is associated with shorter duration of non-invasive respiratory support and duration of oxygen support. • nHFOV may be a safe and effective alternative to nCPAP for neonates with TTN.

Risk of skin cancers in mycosis fungoides patients receiving PUVA therapy: A real-life experience from a single tertiary center.

BACKGROUND: Mycosis fungoides (MF) is the most common cutaneous T-cell lymphoma. Skin-directed therapies, including phototherapy, are the first-line treatment modalities. Psoralen plus ultraviolet A light photochemotherapy (PUVA) is quite effective in controlling the disease; however, long-term adverse effects, particularly carcinogenesis, are the cons of this treatment. OBJECTIVE: There are various studies on the negative impact of PUVA on skin cancer in patients with autoimmune skin diseases. The data on the long-term effects of phototherapy on MF patients are scarce. METHODS: All MF cases that received PUVA alone or combined with other treatments at a single tertiary center were analyzed. This study compared the development of non-melanoma skin cancers, melanoma, and solid organ tumors in MF patients with at least 5-year follow-up data with age- and sex-matched controls. RESULTS: A total of 104 patients were included in the study. Ninety-two malignancies were detected in 16 (15.4%) patients, and six developed multiple malignancies. Skin cancers consisted of 56 basal cell carcinomas, 16 Bowen's disease, four squamous cell carcinomas, three melanomas, two basosquamous cell carcinomas, one Kaposi sarcoma, and one keratoacanthoma were found in nine (8.7%) patients. Eight patients developed three solid cancers and six lymphomas. The risk of developing skin cancer was associated with the total number of PUVA sessions (<250 vs ≥250 sessions; hazard ratio (HR) 4.44, 95% confidence interval (CI) 1.033-19.068; p = .045). 9 (13.2%) of 68 patients who had follow-ups for at least 5 years developed skin cancer. Compared to an age- and sex-matched cohort, the prevalence of new skin cancer was considerably greater (p = .009). CONCLUSIONS: Patients with MF are predisposed to develop secondary malignancies, and continual exposure to PUVA may potentiate this risk. Annual digital dermoscopic follow-up in MF patients treated with UVA is advised for early diagnosis and treatment of secondary cutaneous malignancies.

Mean Platelet Volume and Mean Platelet Volume/Platelet Count Ratio Are Predictors of Late-Onset Sepsis in Preterm Infants: A Case-Control Study.

Objective: Our aim was to assess mean platelet volume (MPV) and mean platelet volume to platelet count ratio (MPR) in the setting of late-onset sepsis (LOS) and their association with the type of bacteria causing LOS. Study design: The MPV and MPR levels were obtained at the onset of LOS and then assessed in intra/inter group analyses in preterm infants. Results: Overall, 136 preterm infants were enrolled. The MPV and MPR levels were higher during a LOS event (P < 0.001). A MPV cutoff of >9.2 was related with a sensitivity of 63% and a specificity of 73% for predicting LOS (P < 0.001). A MPR cutoff of >0.15 was related with a sensitivity of 88% and a specificity of 63% for predicting gram negative LOS (P < 0.001). Conclusion: Elevated MPV values and MPR ratios may be helpful in assessing LOS.

Tyrosine kinase inhibitor nilotinib induced palmoplantar erythrodysesthesia: A rare case.

INTRODUCTION: Nilotinib is a second generation Tyrosine Kinase inhibitor (TKI) used in the treatment of Chronic Myeloid Leukemia (CML). The development of tyrosine kinase inhibitors has transformed chronic phase chronic myeloid leukemia from a disease with a poor prognosis to a treatable chronic disease. Long-term treatment with tyrosine kinase inhibitors means that patients must be clinically managed and monitored for years. While under Nilotinib tretament, the development of palmoplantar erythrodyesthesia is a very rare condition compared to other oncological drugs. CASE REPORT: A 66-year-old male patient, who was diagnosed with chronic phase CML in 2019 had been placed under imatinib treatment . He had major molecular response loss in 2021, and was started on second generation TKI nilotinib 2 × 400mg/day, considering his comorbidities. We present a case of a 66-year-old patient with CML who developed palmoplantar erythrodysesthesia on the 21st day starting nilotinib treatment. CONCLUSION: It is important to manage the side effects that develop in long-term treatments. Adverse events can have a negative impact on patient compliance and quality of life and lead to poor clinical outcomes Our case is the first to develop PPE after beginning nilotinib use. We present this phenomenon to raise awareness and ignite a review of management strategies.In this case, we wanted to emphasize the importance of managing side effects.

Dermatoscopic findings and dermatopathological correlates in clinical variants of actinic keratosis, Bowen's disease, keratoacanthoma, and squamous cell carcinoma.

Non-melanoma skin cancer (NMSC), predominantly squamous cell carcinoma (SCC) and basal cell carcinoma, is increasing worldwide. Dermatoscopy, which is one of the non-invasive diagnostic techniques, is important for early diagnosis of NMSC. In this study we aimed to determine dermatoscopic features of keratinocyte derived tumors including actinic keratosis (AK), Bowen's disease (BD), keratoacanthoma (KA), and SCC and correlate the dermatoscopic findings with pathology. A total of 242 lesions from 169 patients were included in the study and dermatoscopic and dermatopathological findings of the lesions were retrospectively studied. Revised pattern analysis was used for the dermatoscopic evaluation. Among 242 lesions, 145 were clinically flat (86 AK, 30 BD, and 29 SCC). Presence of vessels, ulceration, fiber sign, keratin mass, and blood spots decreased the probability of a lesion being AK. When the differential diagnosis was considered between KA and SCC vs AK and BD; vessel presence, ulceration, fiber sign, blood spots, white structureless, keratin, and centred vessels favored the diagnosis of KA and SCC. Our results may contribute to the determination of the lesions to be biopsied in patients with multiple AK on chronically sun damaged skin. In non-pigmented lesions when a final diagnosis cannot be established, knowledge of dermatopathologic and dermatoscopic correlation may significantly assist interpretation of dermatoscopic patterns and clues.

The Role of Low 25-Hydroxyvitamin D Levels in Preterm Infants with Late-Onset Sepsis.

IntroductionWe investigated the association between low 25-hydroxyvitamin D (25-OHD) levels and late-onset sepsis (LOS) in preterm infants (<37 weeks). Methods: Infants with culture-proven LOS were the study group, infants without LOS were the controls. 25-OHD levels were compared between these groups. Low vitamin D was defined as 25-OHD ≤15 ng/ml. Maternal 25-OHD levels were compared to their infant's level. Results: 108 infants were included. The study group was significantly younger (p = 0.02) with significantly lower 25-OHD levels (p < 0.001). Multivariable logistic regression analyses revealed that infants with low 25-OHD levels were 7.159 (95%CI: 1.402-36.553, p = 0.018) times more likely to develop LOS. A positive correlation was detected between maternal and neonatal 25-OHD levels for both study and control groups (r = 0.425, p = 0.009; r = 0.739, p < 0.001, respectively). Conclusions: Low 25-OHD levels are associated with an increased risk of developing LOS development in preterm infants.

Red cell distribution width as a predictor of late-onset Gram-negative sepsis.

BACKGROUND: Late-onset sepsis (LOS) remains an important cause of morbidity and mortality in preterm infants. In this study, our aim was to investigate the red-cell distribution width (RDW) levels during a LOS episode, and its association with the type of growing microorganism and mortality. METHODS: Preterm infants with culture-proven sepsis during their neonatal intensive care unit stay were enrolled. Red-cell distribution width levels were obtained in the first 4 h of postnatal life and at the onset of the LOS episode, and compared for these time frames. The study cohort was divided into two groups according to the type of the growing microorganism. The RDW levels were then assessed in intra- and inter-group analyses. RESULTS: Eighty-six infants were included in the final analysis. RDW levels were increased in the study cohort after a LOS attack (P < 0.001). Infants with Gram-negative sepsis showed a significant increase in their RDW levels, but they remained unchanged in infants with Gram-positive sepsis (P < 0.001 and P = 0.4, respectively). An RDW cut-off of >19.50% was related with a sensitivity of 87% and a specificity of 81% for predicting late-onset Gram-negative sepsis (P < 0.001). Logistic regression analysis showed a positive association of RDW with mortality when adjusted for covariants (adjusted odds ratio: 1.40; 95% confidence interval: 1.02-1.80; P = 0.03). CONCLUSIONS: Our findings show that RDW levels increased during a LOS episode in preterm infants, which was especially evident in Gram-negative infections. We believe that these findings may be of importance in the early diagnosis and prognosis of LOS in preterm infants.

Serial Carboxyhemoglobin Levels and Its Relationship with Late Onset Sepsis in Preterm Infants: An Observational Cohort Study.

Objective: This study aimed at assessing the serial carboxyhemoglobin (COHb) levels in preterm infants during the first week of life and their variation with late-onset sepsis (LOS). Study Design: Infants with <37 gestational weeks were categorized into two groups according to the presence of culture proven LOS. Serial COHb levels were obtained during the first week of life, at the onset of the LOS episode, and upon blood culture negativity with response to antibiotics. Result: Overall 207 infants were enrolled. A LOS episode resulted in a significant increase in COHb levels (p < 0.001), which decreased to normal levels when the blood cultures were sterile (p < 0.001). At a cut of level of 1.35% COHb had a sensitivity of 56% and a specificity of 90% to confirm LOS (p < 0.001). Conclusion: In this study, we demonstrated an increase in COHb levels at the onset of LOS and a decrease with response to antibiotherapy.

Glutathione synthetase deficiency: a novel mutation with femur agenesis.

Introduction: Glutathione synthetase (GSS) deficiency is an autosomal recessive disorder (frequency < 1/1,000,000) with different varyingly severe clinical manifestations that include metabolic acidosis, hemolytic anemia, hyperbilirubinemia, neurological disorders and sepsis. Case report: This infant was small for gestational age, had hemolytic anemia, metabolic acidosis, bilateral subependymal pseudocysts and increased echogenicity of the basal ganglia. GSS deficiency was confirmed by genetic analysis. The patient also had unilateral right femur agenesis. Conclusion: By using next generation sequencing analysis, we identified a novel homozygous variant c.800G > A, p.Arg267Gln in the GSS gene of this patient. Femur agenesis had not previously been associated with GSS.

Mannose-Binding Lectin Levels in Late-Onset Sepsis in Preterm Infants: Results from a Prospective Study in a Tertiary Care Center.

Introduction: This study aimed to determine the association between serum mannose-binding lectin (MBL) levels, gene polymorphisms and late-onset sepsis (LOS) in preterm infants. Methods: Infants with <37 gestational weeks were categorized into two groups according to the presence of LOS during their hospitalization. An MBL level <700 ng/ml was defined as deficiency, <400 ng/ml as severe deficiency. Codon 54 and 57 polymorphisms of MBL2 gene were analyzed. Results: Overall, 153 preterm infants were included. MBL deficiency was found to be more common in the LOS group (p = 0.02). The rate of Gram-negative sepsis was higher in MBL2 variant-type (p = 0.01). In the logistic regression analysis, MBL levels <700 ng/ml were found to have a significant effect on LOS development (odds ratio: 2.692, 95% confidence interval 1.196-5.8, p = 0.02). Conclusions: MBL deficiency is an important risk factor for the development of LOS. Furthermore, there is an association between MBL2 gene polymorphism and Gram-negative sepsis.

New-generation fish oil and olive oil lipid for prevention of oxidative damage in preterm infants: Single center clinical trial at university hospital in Turkey.

BACKGROUND: Parenteral nutrition (PN) has been widely used in preterm infants. The lipid solutions used for PN, however, are associated with oxidative stress and morbidity. The aim of this study was to compare the effectiveness of a new-generation lipid emulsion (SMOFLipid) and olive-oil based lipid emulsion for prevention of PN-associated oxidative damage. METHODS: Preterm infants < 32 weeks of gestational age were included in this prospective randomized study. All infants were randomized to SMOFlipid or olive-oil based lipid emulsion (ClinOleic). Lipid peroxidation products were evaluated in all infants. In addition, total antioxidant capacity (TAC), and both pro- and anti-inflammatory cytokines were studied at days 0, 7 and 14. RESULTS: A total of 89 infants (SMOFlipid, n = 42; ClinOleic, n = 47) were enrolled. TAC was higher in the SMOFlipid group compared with the ClinOleic group at all time points, and the difference on day 7 was statistically significant. Although the anti-inflammatory cytokine interleukin-10 was higher in the SMOFlipid group, this difference was not significant. Bronchopulmonary dysplasia (BPD) was lower in the SMOFlipid group (14.1%) than in the ClinOleic group (31.2%), but this finding was non-significant p > 0.05. The rate of severe BPD was significantly lower in the SMOFlipid group. CONCLUSION: To our best of knowledge, this is the first study to suggest that SMOFlipid might decrease oxidative damage and oxidative-stress-associated morbidity compared with olive oil-based emulsion in preterm infants.

Potential use of multi-strain synbiotics for improving postnatal head circumference.

Background & Objective: Preterm infants need nutritional and medical requirements in accordance with the physiologic maturity at birth and maintaining optimal postnatal corporal and cerebral growth is one of the main targets of medical caregivers. However, only a few strategies exist to improve the outcomes of infants in a pathogen-rich and nutrient-poor neonatal intensive care unit environment. In this pilot study, we hypothesize that synbiotics may enhance brain growth, which is reflected indirectly by an increase in head circumference through several signalling molecules. Methods: A pilot study was conducted in preterm infants with a gestational age of ≤32 weeks and a birth weight of ≤1500 grams at neonatal intensive care unit of Uludag Univeristy Medical Faculty (NICU) for one-year period. Following the randomization of the infants, a prepared commercial synbiotic solution containing multi-combined probiotics and prebiotics was administered enterally to the study group. Results: The odds of a patient having a lower body weight and head circumference below the 10th percentile were significantly lower in the probiotic group (p=0.001, p=0.03, respectively). Moreover, the infants in the synbiotics group had a more optimal head circumference (between the 50th and 90th percentiles, p=0.001). Conclusions: Our results show that if we can maintain optimal gut microbiota, we might achieve better neuro-development via the beneficial effects of synbiotics on cytokines, neurotransmitters, and the cellular immunity of the nervous system. Further investigational models are needed to demonstrate the beneficial effects of synbiotics on the central nervous system.

Correlation between systemic immune-inflammation index and routine hemogram-related inflammatory markers in the prognosis of retinopathy of prematurity.

Purpose: To evaluate the prognostic potential of systemic inflammatory index in the course of retinopathy of prematurity (ROP). Methods: This is a retrospective case-control study. 303 infants with a gestational age of ≤35 weeks were screened with and without ROP at birth and 1 month after the birth of complete blood counts (CBC) were included in this study. Serum neutrophil-to-lymphocyte ratio (NLR), lymphocyte-to-monocyte ratio (LMR), platelet-to-lymphocyte (PLR), and systemic immune-inflammation index (SII) was calculated at birth and one month after. LMR was calculated by dividing the absolute lymphocyte count by the absolute monocyte count. NLR and PLR were determined by dividing the absolute neutrophil count or the absolute platelet count by the absolute lymphocyte count, respectively. The SII was calculated by the formula = neutrophilxplatelet/lymphocyte. All statistical analyses were performed using SPSS 22 (SPSS for Windows, version 22.0; SPSS, Inc. Chicago, IL, USA). Results: A total of 303 infants were included 145 with ROP and 158 without ROP. The NLR, LMR, PLR and SII values were 0.56 ± 1.17/0.51 ± 1.04 (P = 0.997), 13.7 ± 18/9.49 ± 13.1 (P = 0.014), 31.69 ± 68/24.1 ± 37.7 (P = 0.268), 131.42 ± 326/124.66 ± 267 (P = 0.935) in with ROP and without ROP infant at birth respectively. The NLR, LMR, PLR, and SII values were 0.68 ± 1.27/0.34 ± 0.99 (P = 0.001), 2.58 ± 6.01/2.46 ± 14.5 (P = 0.706), 47.5 ± 78.33/33.55 ± 42.4 (P = 0.035), and 253 ± 681/114 ± 345 (P = 0.001), respectively in with ROP and without ROP infant at 1 month after birth. Conclusion: The NLR, PLR, and SII seem an independent predictor of the development of ROP.

Vitamin D deficiency and its effect on respiratory distress syndrome in premature infants: results from a prospective study in a tertiary care centre.

BACKGROUND: The positive effects of steroids on lung development are well known, and 1,25-dihydroxy vitamin D3 has been shown to exert positive effects on fetal lung development. OBJECTIVE: We aimed to investigate the relationship between 25-hydroxyvitamin D [25(OH)D] levels and respiratory distress syndrome (RDS) in premature infants. METHODS: Infants aged ≤32 gestational weeks who were admitted to the neonatal intensive care unit (NICU) during 1 year were enrolled in this prospective study. 25(OH)D levels were obtained at the time of admission to NICU. Patients were divided into three groups according to their 25(OH)D levels: severe (group 1), moderate (group 2), and mild (group 3) 25(OH)D deficiencies. RESULTS: The study comprised 72 patients; of them, RDS was observed in 49 and not observed in 23 patients. The mean 25(OH)D levels were significantly lower in RDS patients (p=0.04). Multivariate analysis showed that patients with higher 25(OH)D levels can be preventive for the development of RDS (odds ratio 0.89; 95% confidence interval 0.8-0.99; p=0.04). CONCLUSION: Our study revealed that 25(OH)D deficiency is an independent risk factor for RDS in premature infants. However, further studies are necessary to explore the association between 25(OH)D deficiency and RDS.

The effect of Yakson and Gentle Human Touch methods on pain and physiological parameters in preterm infants during heel lancing.

BACKGROUND: Various non-pharmacologic methods are used to alleviate pain in preterm infants who spend their first days in neonatal intensive care units (NICU) because they are exposed to numerous painful interventions. OBJECTIVE: To determine the effects of Yakson and Gentle Human Touch (GHT) methods on pain and physiologic parameters during heel lancing procedures in preterm infants. DESIGN AND METHODS: This was a randomised controlled trial. The study was conducted in a NICU between June 2018 and June 2019. A total of 90 preterm infants were divided into three groups: 30 infants in the Yakson group, 30 infants in the GHT group, and 30 infants in the control group. All preterm infants were randomly divided into groups. Pain responses were evaluated using the Neonatal Infant Pain Scale. RESULTS: It was found that pain scores and heart rates were significantly lower during and after heel lancing in preterm infants in the Yakson and GHT groups than in the control group, the difference was statistically significant (p < .001). PRACTICAL IMPLICATIONS: Yakson and GHT applied to preterm infants during heel lancing has positive effects on pain and physiologic parameters.

Mannose-binding lectin gene polymorphism and its effect on short term outcomes in preterm infants.

OBJECTIVE: Mannose-binding lectin, which belongs to the collectin family, is an acute-phase reactant that activates the complement system. This study aimed to investigate the effect of MBL2 gene polymorphism on short-term outcomes in preterm infants. METHOD: Infants of <37 gestational weeks who were admitted to the neonatal intensive care unit during a two-year period were enrolled in this prospective study. The neonates were categorized into two groups according to their MBL2 genotypes. Normal MBL2 genotype was defined as MBL2 wild-type (AA genotype), whereas mutant MBL2 genotype was defined as MBL2 variant-type (AO/OO genotype). The relationship between MBL2 genotype and short-term morbidity and mortality was evaluated. RESULTS: During the two-year study period, 116 preterm infants were enrolled in this study. In MBL2 variant-type, mannose-binding lectin levels were significantly lower and incidences of mannose-binding lectin deficiency (MBL level<700ng/mL) were higher (p<0.001). In this group, the prevalence of respiratory distress syndrome and mortality was significantly higher (p<0.001, p=0.03 respectively). In the MBL2 wild-type group, the prevalence of necrotizing enterocolitis (NEC) was higher (p=0.01). Logistic regression analyses revealed that MBL2 variant-type had a significant effect on respiratory distress syndrome development (odds ratio, 5.1; 95% confidence interval, 2.2-11.9; p<0.001). CONCLUSIONS: MBL2 variant-type and mannose-binding lectin deficiency are important risk factors for respiratory distress syndrome development in preterm infants. Additionally, there is an association between MBL2 wild-type and NEC. Further studies on this subject are needed.

Elevated blood carboxyhemoglobin levels as an early predictor of phototherapy requirement in moderate and late preterm infants.

Objective: Preterm infants are prone to increased bilirubin burden and display adverse outcomes if left unmonitored; therefore, predicting an increased bilirubin production is of paramount importance.Methods: We aimed to evaluate carboxyhemoglobin (COHb) levels in moderate (GA: 320/7-336/7) and late preterm (GA: 340/7-366/7) infants to assess whether this molecule could be used as an early predictor of phototherapy requirement.Results: A total of 221 infants were enrolled in the study. On admission, carboxyhemoglobin levels of infants who received phototherapy were significantly higher than that of infants who did not require this treatment, and this difference persisted in the consecutive hours (median (min-max): 1.2% (0.3-1.7) versus 0.8% (0.4-1.1); p < .001). The initial and consecutive COHb levels showed positive correlation (r = 0.77, p < .001). In the post-hoc analysis, direct antiglobulin test positivity significantly affected phototherapy requirement (p < .001). Receiver operating characteristics analysis showed that a COHb level of ≥0.95% was found to have a sensitivity of 90% and a specificity of 88%. Multinomial logistic regression analysis demonstrated that high COHb levels on admission significantly increased the likelihood of phototherapy requirement when adjusted for covariants (adjusted odds ratio: 2.2; 95% confidence interval: 1.4-3.5; p < .001).Conclusion: Carboxyhemoglobin measurement can be simply used to predict preterm infants who will require phototherapy.

The effectiveness of serum amyloid A for prediction of neonatal cholestasis associated with parenteral nutrition in premature infants.

Özkan H, Köksal N, Dogan P, Güney-Varal I, Bagci O, Özgür T. The effectiveness of serum amyloid A for prediction of neonatal cholestasis associated with parenteral nutrition in premature infants. Turk J Pediatr 2019; 61: 26-33. Parenteral nutrition (PN) has been widely used in premature infants untill enteral feeding can be tolerated. Cholestasis is an important complication of PN. The objective of this study was to evaluate the role of serial measurements of serum amyloid A (SAA) during PN and compare its` effectiveness with C-reactive protein (CRP) and procalcitonin (PCT). We also aimed to determine the risk factors for PN associated cholestasis (PNAC). Premature infants ( < 34 weeks` gestational age) who were started on PN during hospitalization were included in this prospective study. SAA, CRP and PCT levels were measured on days 0, 3, 7, 14, and 21 of PN in all infants. Infants who had PN for less than 2 weeks, who developed sepsis and/or necrotizing enterocolitis were excluded. A total of 85 infants were included. The mean birth weight was 1226±329 g, and the mean gestational age was 29.4±1.8 weeks. The birth weight of infants who developed cholestasis were significantly lower. Enteral nutrition was started significantly later in infants with cholestasis. CRP and PCT did not correlate with conjugated bilirubin levels at any time point. SAA levels on days 7 and 14 showed a significant correlation with conjugated bilirubin levels. SAA levels on day 7 was found to have the highest sensitivity for prediction of PNAC. Low birth weight, late commencement of enteral feeding, and prolonged PN were the main risk factors for PNAC development. This is the first study that shows the predictive value of SAA for PNAC development. We suggest that SAA may be used as an accurate and useful biomarker for prediction of PNAC in high risk premature infants receiving PN.

A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency.

Background The clinical phenotypes of carnitine palmitoyltransferase type-2 deficiency (CPT2D) are classified into lethal neonatal, severe infantile and muscle forms. The rarest form is the lethal neonatal form. Case presentation The patient was hypotonic and bradycardic at admission. Blood urea nitrogen and creatinine were high. He had polycystic kidneys, patent foramen ovale and aortic valve insufficiency. Cranial magnetic resonance imaging (MRI) revealed increased signal intensities in the periventricular white matter. Tandem mass spectrometry (MS) analysis was compatible with CPT2D. We found a homozygous in-frame deletion in the CPT2 gene using next-generation sequencing. Conclusions We identified a novel mutation leading to the lethal form of CPT2D with polycystic kidney, cardiac malformation and cranial MRI findings. Our findings expand the spectrum of causative mutations and clinical findings in CPT2D.