World Journal of Peri & Neonatology https://publish.kne-publishing.com/index.php/WJPN <p><strong>World Journal of Peri &amp; Neonatology (WJPN)</strong>&nbsp;is a peer-reviewed and free-access journal founded in 2017, by Mother and Newborn Health Care Center, Yazd, Iran. The Journal publishes articles in English across on all aspects of preconceptional, perinatal, and postpartum periods; and of fetuses and newborn infants during and beyond their initial hospital stay.&nbsp;The Editorial Board is comprised of an Editor-in-Chief and Associate Editors, highly qualified scientists of different institutions across Iran or overseas. The WJPN audience includes specialist in obstetrics, neonatology, perinatology, maternal/fetal medicine, and neonatal and perinatal nurses. It publishes peer-reviewed clinical research articles, review or update articles, case reports, commentaries,editorials and letters to the Editor. However, other types of articles may be included depending on the interest of the Journal or the need to&nbsp;publish relevant subject matters not suitable for the categories above.</p> <p><strong data-stringify-type="bold">All the manuscripts should be submitted through the Journal Primary Website at <a href="https://wjpn.ssu.ac.ir/contacts?_action=loginForm">https://wjpn.ssu.ac.ir/contacts?_action=loginForm</a></strong></p> Shahid Sadoughi University of Medical Scienses en-US World Journal of Peri & Neonatology 2645-4068 Reflections on the Efficacy of QF-PCR for Prenatal Screening in the Iranian Population: Implications for Global Practices https://publish.kne-publishing.com/index.php/WJPN/article/view/17321 <div id="1667106617.716519" class="c-virtual_list__item" tabindex="0" role="listitem" aria-setsize="-1" data-qa="virtual-list-item" data-item-key="1667106617.716519"> <div class="c-message_kit__background p-message_pane_message__message c-message_kit__message" role="presentation" data-qa="message_container" data-qa-unprocessed="false" data-qa-placeholder="false"> <div class="c-message_kit__hover" role="document" aria-roledescription="message" data-qa-hover="true"> <div class="c-message_kit__actions c-message_kit__actions--above"> <div class="c-message_kit__gutter"> <div class="c-message_kit__gutter__right" role="presentation" data-qa="message_content"> <div class="c-message_kit__blocks c-message_kit__blocks--rich_text"> <div class="c-message__message_blocks c-message__message_blocks--rich_text" data-qa="message-text"> <div class="p-block_kit_renderer" data-qa="block-kit-renderer"> <div class="p-block_kit_renderer__block_wrapper p-block_kit_renderer__block_wrapper--first"> <div class="p-rich_text_block" dir="auto"> <div class="p-rich_text_section">The Article Abstract is not available.</div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div id="1669062600000divider" class="c-virtual_list__item" tabindex="-1" role="presentation" aria-setsize="-1" data-qa="virtual-list-item" data-item-key="1669062600000divider"> <div class="c-message_list__day_divider" data-stringify-ignore="true">&nbsp;</div> </div> Hossein Neamatzadeh Seyed Alireza Dastgheib Copyright (c) 2024 World Journal of Peri & Neonatology 2024-12-23 2024-12-23 10.18502/wjpn.v7i1.17321 Is There a Substantive Association between Turner Syndrome and Beta Thalassemia Major? https://publish.kne-publishing.com/index.php/WJPN/article/view/17322 <div id="1667106617.716519" class="c-virtual_list__item" tabindex="0" role="listitem" aria-setsize="-1" data-qa="virtual-list-item" data-item-key="1667106617.716519"> <div class="c-message_kit__background c-message_kit__background--hovered p-message_pane_message__message c-message_kit__message" role="presentation" data-qa="message_container" data-qa-unprocessed="false" data-qa-placeholder="false"> <div class="c-message_kit__hover c-message_kit__hover--hovered" role="document" aria-roledescription="message" data-qa-hover="true"> <div class="c-message_kit__actions c-message_kit__actions--above"> <div class="c-message_kit__gutter"> <div class="c-message_kit__gutter__right" role="presentation" data-qa="message_content"> <div class="c-message_kit__blocks c-message_kit__blocks--rich_text"> <div class="c-message__message_blocks c-message__message_blocks--rich_text" data-qa="message-text"> <div class="p-block_kit_renderer" data-qa="block-kit-renderer"> <div class="p-block_kit_renderer__block_wrapper p-block_kit_renderer__block_wrapper--first"> <div class="p-rich_text_block" dir="auto"> <div class="p-rich_text_section">The Article Abstract is not available.</div> </div> </div> </div> </div> </div> </div> </div> <div class="c-message_actions__container c-message__actions" role="group"> <div class="c-message_actions__group" role="group" aria-label="Message actions" data-qa="message-actions">&nbsp;</div> </div> </div> </div> </div> </div> <div id="1669062600000divider" class="c-virtual_list__item" tabindex="-1" role="presentation" aria-setsize="-1" data-qa="virtual-list-item" data-item-key="1669062600000divider"> <div class="c-message_list__day_divider" data-stringify-ignore="true">&nbsp;</div> </div> Hossein Neamatzadeh Seyed Alireza Dastgheib Reza Bahrami Copyright (c) 2024 World Journal of Peri & Neonatology 2024-12-23 2024-12-23 10.18502/wjpn.v7i1.17322 Applications of Artificial Intelligence Chatbots in Congenital Diplopodia: A Real-World Perspective on a Rare Case of Duplicated Lower Limb https://publish.kne-publishing.com/index.php/WJPN/article/view/17323 <p>Background: This study examines the effectiveness of AI chatbot technology in assisting patients with congenital diplopia, focusing on a case study of a 16-month-old boy with duplicated lower limbs.</p> <p>Methods: We assessed the performance of two AI chatbots—Sider Fusion AI and Perplexity AI—by analyzing their discharge summaries against a previously published clinical scenario. An orthopedic specialist, geneticist, and neonatologist evaluated the summaries for competence, accuracy, relevance, informativeness, support capabilities, and overall communication effectiveness.</p> <p>Results: Both chatbots produced organized summaries that accurately reflected the diagnosis and surgical procedure outlined by Dr. Kitta. However, Sider Fusion AI surpassed Perplexity AI in organization and detail, offering structured summaries with clear headings and bullet points. It included comprehensive information on patient care, dietary advice, genetic testing, family support, follow-up instructions, pain management, and Ankle-Foot Orthosis (AFO) guidelines. In contrast, Perplexity AI's summary, while accurate, was less specific and clear, conflating care instructions with vague mobility information.</p> <p>Conclusion: The findings suggest that while AI chatbots can aid in clinical documentation, their effectiveness varies significantly, with Sider Fusion AI providing a more structured and practical resource for families and practitioners dealing with congenital orthopedic disorders.</p> Ali Masoudi Amirhossein Omidi Seyedeh Elham Shams Maryam Yeganegi Mahsa Danaei Amirmasoud Shiri Maryam Aghasipour Kazem Aghili Hossein Neamatzadeh Copyright (c) 2024 World Journal of Peri & Neonatology 2024-12-23 2024-12-23 10.18502/wjpn.v7i1.17323 Budesonide-Surfactant Therapy for Neonatal Respiratory Distress Syndrome in Preterm Infants: A Systematic Review and Meta-Analysis of Respiratory Outcomes https://publish.kne-publishing.com/index.php/WJPN/article/view/17324 <p><strong>Background:</strong> Neonatal respiratory distress syndrome (NRDS) in preterm infants is a critical condition often necessitating urgent medical intervention. This meta-analysis assesses the efficacy and safety of combining surfactant with budesonide for treating NRDS in preterm neonates, emphasizing respiratory outcomes.</p> <p><strong>Methods:</strong> We performed a systematic review of databases (PubMed, Embase, Cochrane Library) following PRISMA guidelines from inception to July 30, 2024. Studies comparing budesonide-surfactant combination therapy to surfactant alone in NRDS were included. Respiratory outcomes evaluated included duration of mechanical ventilation, continuous positive airway pressure (CPAP), length of hospitalization, and frequency of a second surfactant dose. The outcomes were the incidence of bronchopulmonary dysplasia (BPD) and mortality rates. Data from eligible studies were pooled for meta-analysis using a random-effects model.</p> <p><strong>Results:</strong> Ten articles involving 920 infants in the treatment group and 1167 in the control group were analyzed. The combination therapy significantly reduced mechanical ventilation time, hospitalization duration, and CPAP use and decreased the need for a second surfactant dose. The treatment group also showed significantly lower mortality rates (OR = 0.694, 95% CI: 0.52, 0.927, P &lt; 0.05) and BPD incidence (OR = 0.639, 95% CI: 0.525, 0.778, P &lt; 0.001) compared to controls.</p> <p><strong>Conclusion:</strong> Budesonide-surfactant therapy for NRDS in preterm infants effectively reduces mechanical ventilation time and hospitalization. It also significantly lowers mortality rates, the need for a second surfactant dose, and BPD incidence, indicating its potential for widespread application in NICUs. Further large-scale trials are needed to validate these findings and <br>assess long-term outcomes.</p> Mahmood Noorishadkam Sedigheh Ekraminasab Seyedeh Elham Shams Hossein Neamatzadeh Copyright (c) 2024 World Journal of Peri & Neonatology 2024-12-23 2024-12-23 10.18502/wjpn.v7i1.17324 Evaluating Developmental Progress in Preterm Infants (4-12 Months) Following NICU Stay: An ASQ Analysis https://publish.kne-publishing.com/index.php/WJPN/article/view/17325 <p><strong>Background:</strong> Premature birth is a principal risk factor for developmental delay in infants. Infants born with a history of hospitalization in the neonatal intensive care unit (NICU) are at higher risk of developmental delay and require close monitoring. This study aimed to investigate and compare the developmental status of preterm infants (4-12 months old) with a history of hospitalization in the NICU using the Ages and Stages Questionnaire (ASQ).</p> <p><strong>Methods:</strong> This cross-sectional study was conducted from October 2016 to September 2020 in the NICU of Shahid Sadoughi Hospital in Yazd, Iran. One hundred preterm infants with a history of hospitalization in the NICU were selected using non-random sampling and were assessed at corrected ages of 4, 8, and 12 months. The data collection tool consisted of demographic information questionnaires and ASQ forms. The data were analyzed using SPSS 22 software and Excel.</p> <p><strong>Results:</strong> Of the 100 infants studied, 55% were boys and 45% were girls. The mean birth weight was 65.1480 ± 59.501 grams, and the mean discharge weight was 35.1746 ± 94.335 grams. At 4, 8, and 12 months, 16%, 14%, and 13% of the infants, respectively, had developmental delays in at least one domain. The mean length of hospital stay after birth was 83.35 ± 43.26 days, and the mean gestational age was 84.30 ± 97.20 weeks. These means differed significantly between infants with and without developmental delay in at least one domain at 12 months.</p> <p><strong>Conclusion:</strong> The presence of developmental delay in preterm infants with a history of NICU hospitalization increases the number of required interventions for these infants. Therefore, regular developmental assessments are essential in the first year of life to detect developmental delay early and provide timely interventions. Moreover, the continuation of growth and development in these infants should be evaluated.</p> Azam Dehghan Sepideh Golmohammadi Zahra Ghafarian Homa Moazen Copyright (c) 2024 World Journal of Peri & Neonatology 2024-12-23 2024-12-23 10.18502/wjpn.v7i1.17325 The Complex Relationship between Stress and Gestational Diabetes: Mechanisms and Interventions for Maternal and Fetal Health https://publish.kne-publishing.com/index.php/WJPN/article/view/17326 <p>Gestational diabetes mellitus (GDM) is a prevalent complication during pregnancy that poses risks to both maternal and fetal health. This study aims to elucidate the intricate relationship between stress and the development of GDM, highlighting how stress-related hormonal fluctuations and behavioral changes—such as increased cortisol levels, inflammation, disrupted sleep patterns, and poor dietary choices— contribute to insulin resistance and glucose dysregulation. We examine the influence of stress on hormonal and lifestyle factors associated with GDM and evaluate interventions that manage stress-related metabolic disturbances. Elevated levels of stress hormones (like cortisol and adrenaline) and inflammatory markers (such as IL-6 and TNF-α) are linked to an increased risk of GDM due to their detrimental effects on insulin sensitivity. Our findings suggest that effective interventions, including mindfulness practices, cognitive-behavioral therapy, and regular physical activity, can reduce cortisol levels and enhance glucose regulation. This underscores the necessity of addressing both the metabolic and psychological dimensions of GDM. Current evidence supports the integration of stress-reduction strategies—such as mindfulness, cognitive-behavioral therapy, and exercise—into GDM management, as they can improve glycemic control by lowering cortisol and enhancing insulin sensitivity. Recognizing stress as a modifiable risk factor for GDM is crucial for improving maternal and fetal outcomes, emphasizing the importance of incorporating stress management into GDM prevention and treatment protocols.</p> Atiyeh Javaheri Sedigheh Ekraminasab Seyedeh Elham Shams Hossein Neamatzadeh Copyright (c) 2024 World Journal of Peri & Neonatology 2024-12-23 2024-12-23 10.18502/wjpn.v7i1.17326 A Case Report on a Patient with Glutathione Synthetase Deficiency and Her Outcomes https://publish.kne-publishing.com/index.php/WJPN/article/view/17327 <p><strong>Background:</strong> Glutathione synthetase deficiency (GSSD) is a rare autosomal recessive disorder linked to glutathione metabolism. In severe cases, it is characterized by significant metabolic acidosis, hemolytic anemia, and various neurological complications. Biochemical analyses typically reveal considerable urinary excretion of 5-oxoproline.</p> <p><strong>Case Presentation:</strong> Here, we present a case involving a three-day-old infant with a birth weight of 3.3 kg, who was admitted due to cyanosis and grunting. The infant’s parents were consanguineous. The family had a history of a previous child who succumbed at the age of 2 months with similar symptoms and high anion gap metabolic acidosis. Laboratory tests indicated severe metabolic acidosis along with a marked increase in 5-oxoproline among the organic acids in the urine. The infant received treatment with vitamins C and E. On follow-up at 7 years and 6 months of age, the child demonstrated expected normal developmental progress but was prescribed anti-epileptic medications due to recurrent seizures, occurring four times.</p> <p><strong>Conclusion:</strong> We recommend that GSSD be considered in cases of metabolic acidosis and hemolytic anemia in neonates. Early diagnosis and timely therapeutic interventions may lead to improved clinical outcomes.</p> Naser Ali Mirhossein Hosein Eslamiyeh Shima Mirhosseini Copyright (c) 2024 World Journal of Peri & Neonatology 2024-12-23 2024-12-23 10.18502/wjpn.v7i1.17327 A Case Report on the Outcome of Infantile Pompe Disease https://publish.kne-publishing.com/index.php/WJPN/article/view/17328 <p><strong>Background:</strong> Pompe disease, or glycogen storage disease Type II, is an autosomal recessive disorder caused by a deficiency of acid α-1,4- glucosidase, leading to lysosomal glycogen accumulation in muscle tissues. Infantile Pompe disease (IPD) typically presents within the first weeks of life and is often fatal without enzyme replacement therapy (ERT). This report details the clinical course and outcome of a sevenmonth-old male diagnosed with IPD.</p> <p><strong>Case Presentation:</strong> A seven-month-old male infant, born full-term to consanguineous parents, was admitted due to a severe respiratory infection. Clinical features included hypotonia, swallowing difficulties, and failure to thrive (weight: 6 kg, &lt;5th percentile). Laboratory tests showed elevated SGOT (95), SGPT (235), and CPK (700). An ECG revealed a short PR interval and prolonged QRS duration. Echocardiography indicated severe hypertrophic cardiomyopathy with systolic dysfunction. Enzyme assays confirmed critically low α-1,4- glucosidase levels (0.1 μmol/L/h), and genetic testing identified a homozygous mutation (c.1942 G &gt; C), confirming Pompe disease. The infant passed away before ERT could be initiated.</p> <p><strong>Conclusion:</strong> This case highlights the challenges in diagnosing and managing Pompe disease in infants. The child's symptoms and lab results indicated a metabolic disorder, underscoring the multisystem impact of IPD. Rapid disease progression and consanguinity were significant factors. The delayed diagnosis led to a tragic outcome, emphasizing the need for early recognition and intervention. Timely ERT is crucial, as IPD can be fatal without it. This case underscores the importance of increased awareness and improved diagnostic protocols, particularly in consanguineous families and atypical presentations. Early diagnosis and intervention are essential for better outcomes.</p> Naser Ali Mirhosseini Mostafa Behjati-Ardakani Parisa Sadat Fakhimpour Copyright (c) 2024 World Journal of Peri & Neonatology 2024-12-23 2024-12-23 10.18502/wjpn.v7i1.17328