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Introduction: Pompe disease (PD) is a disease caused by pathogenic variations in the GAA gene known as glycogen storage disease type II, characterized by heart hypertrophy, respiratory failure, and muscle hypotonia, leading to premature death if not treated early. The only treatment option, enzyme replacement therapy (ERT), significantly improves the prognosis for some patients while failing to help others. In this study, the determination of key genes involved in the response to ERT and potential molecular mechanisms were investigated. Methods: Gene Expression Omnibus (GEO) data, accession number GSE38680, containing samples of biceps and quadriceps muscles was used. Expression array data were analyzed using BRB-Array Tools. Biceps group patients did not receive ERT, while quadriceps received treatment with rhGAA at 0, 12, and 52 weeks. Differentially expressed genes (DEGs) were deeply analyzed by DAVID, GO, KEGG and STRING online analyses, respectively. Results: A total of 1727 genes in the biceps group and 1198 genes in the quadriceps group are expressed differently. It was observed that DEGs were enriched in the group that responded poorly to ERT in the 52nd week. Genes frequently changed in the weak response group; the expression of 530 genes increased and 1245 genes decreased compared to 0 and 12 weeks. The GO analysis demonstrated that the DEGs were mainly involved in vascular smooth muscle contraction, lysosomes, autophagy, regulation of actin cytoskeleton, inflammatory response, and the WNT signaling pathway. We also discovered that the WNT signaling pathway is highly correlated with DEGs. Several DEGs, such as WNT11, WNT5A, CTNNB1, M6PR, MYL12A, VCL, TLN, FYN, YES1, and BCL2, may be important in elucidating the mechanisms underlying poor response to ERT. Conclusion: Early diagnosis and treatment of PD are very important for the clinic of the disease. As a result, it suggests that the enriched genes and new pathways emerging as a result of the analysis may help identify the group that responds poorly to treatment and the outcome of the treatment. Obtained genes and pathways in neonatal screening will guide diagnosis and treatment.

Background: Oxidative stress is a pathogenic stress factor in preterm infants. Dynamic thiol/disulphide balance has a critical role in antioxidant defense, detoxification, apoptosis, transcription and cellular signal transport mechanisms. Oxidant/antioxidant balance state is a process beginning before birth and premature infants are especially vulnerable to oxidative stress. Objectives: In this study, we aimed to evaluate dynamic thiol/disulphide homeostasis by umbilical blood gas analysis, compare term and preterm infants, evaluate its relation with Apgar score, perinatal risks with mother and occurrence of NEC (necrotizing enterocolitis), sepsis and ROP (Retinopathy of Prematurity). Methods: A total of 108 (51 female and 57 male) newborn infants were included in this prospective cohort study. Of them, 31 were term and 77 were preterm. Demographic variables, Apgar score, NEC, sepsis and ROP intervention data were collected. Disulfide, native thiol, total thiol, index 1 (disulphide/native thiol × 100), index 2 (disulphide/total thiol × 100) and index 3 (native thiol/total thiol × 100) were calculated. Serum total ischemic modified albumin (IMA) and albumin were measured. Bloodgas analysis was performed within 2 minutes following birth. Results: Preterm infants had lower disulphide levels and index 1 and 2 ratios, but higher index 3 ratios. Acidotic infants, index 1 and 2 and disulphide levels were higher and index 3 was lower than patients with normal pH. Disulphide, index 1 and 2 were lower in patients taken to NICU (Neonatal Intensive Care Unit) compared to ones who were not, whereas index 3 values were higher, twenty one patients (19.4%) with scores < 7 had higher index 3 values at 5th minute. Disulphide levels, index 1 and 2 levels were lower in patients with NEC and index 3 levels were higher. Index 3 ratios were higher in septic infants. Index 3 was higher in patients born from preeclamptic mothers compared to ones without preeclampsia. Albumin levels were higher in patients with maternal placental anomalies. Conclusions: We believe that evaluation of thiol-disulphide homeostasis in preterm and term infants may be demonstrative for oxidant capacity of the newborn, hence the oxidative stress.

ÖZETSolunum zorluğu, bir bebeğin yenidoğan yoğun bakım ünitesine kabul edilmesinin en yaygın nedenlerinden biridir. Bütün dönem yenidoğanların % 7'sini etkileyen, prematürelerde daha yaygın ve yüksek oranda görülen bir durumdur. Yenidoğan yoğun bakım ünitesine başvuran bebeklerin% 15'inde ve geç preterm bebeklerin% 29'unda önemli solunum yolu morbiditesi gelişmektedir. Yenidoğanda solunum sıkıntısı, takipne, burun akıntısı, çekilme veya inleme gibi artan solunum eforunda bir veya daha fazlasında artış olarak kabul edilir.Yenidoğanda solunum sıkıntısı nedenleri çeşitli ve multisistemiktir. Pulmoner nedenler normal akciğer gelişimi veya ekstrauterin hayata geçiş sırasında değişiklikler ile ilişkili olabilir. Yenidoğanda solunum sıkıntısının altta yatan nedeni değişmektedir ve her zaman akciğer kaynaklı değildir. Bu nedenle, ilk resüsitasyon ve stabilizasyondan sonra, daha spesifik bir tanı ve uygun yönetimi belirlemek için ayrıntılı bir öykü, fizik muayene, radyografik ve laboratuvar bulgularının kullanılması önemlidir.Yenidoğanda solunum sıkıntısını kolayca tanımayı ve çeşitli nedenlerin her biri ile ilişkili fizyolojik anormallikleri anlamayı öğrenmek optimal yönetime rehberlik edecektir.. ABSTRACTRespiratory distress is one of the most common causes of neonatal intensive care unit admittance. In the whole newborn period the incidence is 7%, but is becoming more common and is even more common in premature babies. Fifteen percent of babies admitted to neonatal intensive care unit and 29% of late preterm infants develop significant airway morbidity. Respiratory distress in newborn is considered as an increase in one or more following factors designating increased respiratory effort; tachypnea, runny nose, nasal flaring, retraction or grunting.The causes of respiratory distress in the newborn are diverse and multi-systemic. Pulmonary causes may be associated with changes in normal lung development or during extra uterine life. The underlying cause of respiratory distress varies in the newborn and is not always caused by respiratory system. It is therefore important to use a detailed history, physical examination, radiographic and laboratory findings to determine a more specific diagnosis and appropriate management after initial resuscitation and stabilization.Understanding respiratory distress in newborn is easy and understanding physiological abnormalities associated with each of the various causes will guide the optimal management.

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