Do preterm infants with Bronchopulmonary dysplasia have a unique postnatal weight gain pattern?

Objectives To investigate the weight gain pattern of preterm infants with bronchopulmonary dysplasia (BPD) during the hospital stay using weekly weight assessment methods. Methods This single-center, retrospective, cohort study was carried out in Zekai Tahir Burak Maternal Health Education and Research Hospital between 2014 and 2018. One hundred fifty-one preterm infants <32 weeks of gestation and <1500 g of birth weight with BPD were compared to 251 babies without BPD in terms of weekly weight gain, standard deviation score (SDS), and fall in weight SDS till discharge. Results Mean body weight was significantly lower in babies with BPD in all weeks except postnatal week (PW) 8. The groups had similar daily weight gain between birth and discharge (p = .78). Infants with BPD had lower weight SDS on postnatal day (PD) 14 and 21, and discharge, however similar on PD 28. The fall in SDS between PW 4 and discharge was significantly higher in the BPD group. Infants with BPD had higher fall in weight SDS between birth and discharge (p = .022). Discharge weight SDS was associated with gestational age and weight SDS on PW 4 in the whole cohort. Conclusion Infants with BPD showed a unique and unsteady pattern of growth compromise during the NICU course, most explicitly in early postnatal life and between PD 28-discharge. Future studies should consider not only the early postnatal life but also the period after four weeks of life till discharge to design an optimal nutrition strategy and decent growth for preterm infants with BPD

Silver-Russell Sendromu Bulunan Hastalarda Epigenotip ve Fenotip İlişkisinin Araştırılması

Silver-Russell Syndrome (SRS) is a heterogenous disease in terms of clinical and genetic features, characterised by intrauterine and postnatal growth restriction, poor postnatal growth, relative macrocephaly, triangular face, asymmetry and feeding difficulties. SRS is a relatively 'young' imprinting disorder compared to Prader-Willi and Angelman disorders. As many of these wide range of the features are non-specific and clinical severity is highly variable, clinical diagnosis of SRS remains difficult and frequency is not known exactly. Pediatricians could face this syndrome during their medical practice. The diagnosis is likely to be skipped due to these characteristics, so knowledge and experience is necessary about SRS. Various previous investigations showed that heterogeneous molecular etiology may contribute to clinical variability and epigenotype-phenotype correlation exists in SRS. This study was performed to detect the molecular etiology in our patients with SRS, in order to search for epigenotype-phenotype correlation and to provide appropriate individualized multidisciplinary approach. The epigenotype was determined using MS-MLPA for copy number and methylation status of 11p15 and 24 patients were evaluated for epigenotype-phenotype correlations. Different molecular etiology groups were evaluated for prematurity, conception with assisted reproductive techniques, low birth weight, low postnatal weight, short stature, relative macrocephaly, excessive sweating, different facial characteristics, skeletal anomalies, feeding difficulties, fifth finger clinodactyly, other congenital anomalies, developmental delay and consanguinity between parents. Differences between groups were not statistically significant owing to the small number of patients in individual groups. All patients clinically suggestive of SRS should be followed-up in a multidisciplinary approach for all possible manifestations of the disorder.Silver-Russell Sendromu (SRS) ciddi büyüme geriliği ile karakterli, klinik ve genetik özellikleri açısından oldukça heterojen bir hastalıktır. Prader-Willi ve Angelman sendromuna kıyasla nispeten daha ‘genç’ bir imprinting bozukluğudur. Silver- Russell Sendromu; intrauterin ve postnatal büyüme geriliği, rölatif makrosefali, üçgen yüz görünümü, vücut asimetrisi, beşinci falanksta klinodaktili ve beslenme problemleri ile karakterlidir. Özelliklerin sendroma özgü olmaması ve şiddetindeki farklılıklar nedeniyle bu sendromun sıklığını saptamak oldukça zordur. Buna ek olarak bulgular en çok bebeklik ve erken çocukluk döneminde belirgin olduğu için daha büyük çocukların değerlendirilmesi güç olabilir. Bu özellikler SRS’ye özgü olmadığı için güvenilir bir klinik tanı koymak oldukça zordur ve tanı sıklıkla atlanabilmektedir. SRS’deki klinik seyir değişkenliğinin moleküler etiyolojinin heterojenitesiyle ilişkili olabileceği düşünülerek birçok çalışmada epigenotip-fenotip ilişkisi kurulmaya çalışılmış, moleküler temele bağlı fenotipik farklılıklar bildirilmiştir. Moleküler etiyolojinin saptanmasının, epigenotip-fenotip ilişkisi kurulmasında, sendromun erken tanısında ve uygun multidisipliner yaklaşım sağlanmasında önemli olacağı düşünülerek, bu çalışmada SRS ile klinik yönden uyumlu 24 hastanın DNA örneğinden MS-MLPA yöntemiyle 11p15 bölgesinde metilasyon değişikliği ve kopya sayısı değişiklikleri araştırılmıştır. 11p15 bölgesinde hipometilasyon saptanan ve saptanmayan olmak üzere iki grupta sınıflanan hastalarda epigenotip-fenotip ilişkisi kurulmaya çalışılmıştır. Hastalar prematürite, yardımcı üreme teknikleri ile doğum öyküsü, düşük doğum ağırlığı, düşük vücut ağırlığı, boy kısalığı, rölatif makrosefali, fazla terleme, çeşitli yüz görünümü bulguları, iskelet anomalileri, beslenme problemleri, beşinci falanksta klinodaktili, diğer konjenital anomaliler, gelişme geriliği, anne baba arasında akrabalık yönünden incelenmişler, ancak gruplara dağılan hasta sayılarının az olması nedeniyle bu değişkenlerin çoğunda istatistiksel olarak anlamlı farklar bulunmamıştır. SRS’nin fenotipik ve moleküler olarak çok v heterojen bir hastalık olması nedeniyle, hastaların olası tüm klinik bulgular yönünden yakın ve multidisipliner izlemi sağlanmalıdır

Glucocorticoids in a neonatal hyperoxic lung injury model: Pulmonary and neurotoxic effects

Background We aimed to compare the effect of dexamethasone (Dex), hydrocortisone (Hc), and methylprednisolone (Mpz) at equivalent doses on somatic growth, lung healing, and neurotoxicity in a hyperoxic rat model. We hypothesized that Mpz and Hc would be superior to Dex with less neurotoxicity by exerting similar therapeutic efficacy on the injured lung. Methods Neonatal rats were randomized to control, bronchopulmonary dysplasia (BPD), Dex, Hc, and Mpz groups. All drugs were administered daily following day 15 over 7 days. Histopathological and immunohistochemical analyses of the lung and brain were performed on day 22. Results All types had much the same impact on lung repair. Oxidative markers in the lung were similar in the steroid groups. While nuclear factor erythroid 2-related factor and heat-shock protein 70 dropped following steroid treatment, no difference was noted in other biochemical markers in the brain between the study groups. Apoptotic activity and neuron loss in the parietal cortex and hippocampus were noted utmost in Dex, but alike in other BPD groups. Conclusions Mpz does not appear to be superior to Dex or Hc in terms of pulmonary outcomes and oxidative damage in the brain, but safer than Dex regarding apoptotic neuron loss. Impact This is the first study that compared the pulmonary efficacy and neurotoxic effects of Dex, Hc, and Mpz simultaneously in an established BPD model. This study adds to the literature on the importance of possible antioxidant and protective effects of glucocorticoid therapy in an oxidative stress-exposed brain. Mpz ended up with no more additional neuron loss or apoptosis risk by having interchangeable effects with others for the treatment of established BPD. Mpz and Hc seem safe as a rescue therapy in terms of adverse outcomes for established BPD in which lung and brain tissue is already impaired

An Important Finding of Systemic Aspergillosis: Skin Involvement and Amphotericin B Resistance in an Adolescent

Invasive aspergillosis is a life-threatening infectious complication in immunocompromised patients, especially with malignancy, and in some cases, it causes extensive tissue destruction and subsequent systemic illness, leading to multiorgan failure and death. Skin involvement and amphotericin B resistance are very rare findings of aspergillosis. Herein, we report the case of a primary hemophagocytic syndrome patient who developed subcutaneous nodules in the 3rd month of bone marrow transplantation from which Aspergillus fumigatus was cultivated despite the fact that she was under antifungal therapy. In immunocompromised patients with prolonged fever, atypical presentations of invasive mycosis should be kept in mind, and early appropriate therapy should be initiated promptly to decrease morbidity and mortality. Copyright (C) 2013, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC.WoSScopu