N. Mirhosseini, S. Taghiyar, M. Saatchi, Zeynab Eshaghiyeh
Background: Inborn errors of metabolism can cause a number of morbidities and mortality in pediatric population. Glutaric aciduria II (GAII) or multiple acyl-CoA dehydrogenase deficiency (MADD) is an ultra-rare (i.e. <1:50 000) disorder of mitochondrial fatty acid oxidation (FAO) and amino acid metabolism. It is inherited in an autosomal recessive manner. Congenital deficiency of electron transfer flavoproteins and ETF dehydrogenase genes cause an illness that combines the features of impaired fatty acid oxidation and impaired oxidation of several aminoacides. Newborn screening (NBS) using tandem mass spectrometry (MS/MS) permits detection of neonates with glutaricaciduria-Type II. Case Presentation: We reported a five-year-old boy with muscle weakness of lower limb and inability to walk (myopathy), seizure due to hypoglycemia (as a result of prolonged fasting), hepatomegaly and rhabdomyolysis that treated with high dose riboflavin and he is well in follow up. Conclusion: Early diagnosis of mild cases and treatment with high dose riboflavin may have better prognosis.
{"title":"A Five-Year-Old Boy with GAII Administered with High-Dose Riboflavin: A Case Report","authors":"N. Mirhosseini, S. Taghiyar, M. Saatchi, Zeynab Eshaghiyeh","doi":"10.18502/WJPN.V3I1.5065","DOIUrl":"https://doi.org/10.18502/WJPN.V3I1.5065","url":null,"abstract":"Background: Inborn errors of metabolism can cause a number of morbidities and mortality in pediatric population. Glutaric aciduria II (GAII) or multiple acyl-CoA dehydrogenase deficiency (MADD) is an ultra-rare (i.e. <1:50 000) disorder of mitochondrial fatty acid oxidation (FAO) and amino acid metabolism. It is inherited in an autosomal recessive manner. Congenital deficiency of electron transfer flavoproteins and ETF dehydrogenase genes cause an illness that combines the features of impaired fatty acid oxidation and impaired oxidation of several aminoacides. Newborn screening (NBS) using tandem mass spectrometry (MS/MS) permits detection of neonates with glutaricaciduria-Type II. \u0000Case Presentation: We reported a five-year-old boy with muscle weakness of lower limb and inability to walk (myopathy), seizure due to hypoglycemia (as a result of prolonged fasting), hepatomegaly and rhabdomyolysis that treated with high dose riboflavin and he is well in follow up. \u0000Conclusion: Early diagnosis of mild cases and treatment with high dose riboflavin may have better prognosis.","PeriodicalId":328568,"journal":{"name":"World Journal of Peri & Neonatology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133013647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cigarettes contain many toxic and harmful compounds. There are approximately 600 substances in cigarette that produce more than 7,000 chemicals when burned. In general, these compounds are hazardous either for smokers or both smokers and passive smokers. Today, due to the increasing number of female smokers, especially mothers who smoke during pregnancy, fetuses and children are faced with serious and irreparable consequences. Nicotine (the addictive substance in cigarettes), carbon monoxide, and numerous other poisons inhaled from cigarettes are transported through the bloodstream, which can be harmful to health of the fetus and the development of its organs, such as the fetal brain. Smoking has consequences not only during pregnancy but also during breastfeeding. In addition to the aforementioned, smoking is considered as one of the most concerning teratogens which can cause structural or functional abnormality, growth restriction, birth defects, and so on. These consequences can have dramatic and significant effects on infancy, childhood, and adulthood. According to the contents, in this review we try to discuss influences of smoking on the development of the fetus, growth of children, and eventually its effects on the development of congenital disorders.
{"title":"Effects of Smoking on the Health of Children from Embryonic Period to Adulthood: A Review Article","authors":"Haniye Alihoseini","doi":"10.18502/WJPN.V3I1.5062","DOIUrl":"https://doi.org/10.18502/WJPN.V3I1.5062","url":null,"abstract":"Cigarettes contain many toxic and harmful compounds. There are approximately 600 substances in cigarette that produce more than 7,000 chemicals when burned. In general, these compounds are hazardous either for smokers or both smokers and passive smokers. Today, due to the increasing number of female smokers, especially mothers who smoke during pregnancy, fetuses and children are faced with serious and irreparable consequences. Nicotine (the addictive substance in cigarettes), carbon monoxide, and numerous other poisons inhaled from cigarettes are transported through the bloodstream, which can be harmful to health of the fetus and the development of its organs, such as the fetal brain. Smoking has consequences not only during pregnancy but also during breastfeeding. In addition to the aforementioned, smoking is considered as one of the most concerning teratogens which can cause structural or functional abnormality, growth restriction, birth defects, and so on. These consequences can have dramatic and significant effects on infancy, childhood, and adulthood. According to the contents, in this review we try to discuss influences of smoking on the development of the fetus, growth of children, and eventually its effects on the development of congenital disorders.","PeriodicalId":328568,"journal":{"name":"World Journal of Peri & Neonatology","volume":"21 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132959878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Noorishadkam, S. Savabieh, Mohammadreza Sharifi
Biomarkers are particles that are released from target organs during tissue hypoxia injury. Recognizing biomarkers released from the damaged brain helps physicians determine the extent of tissue damage and the use of protective techniques in clinical treatment. Previous studies revealed that biomarkers such as brain-specific proteins (neuron-specific enolase (NSE), S100B, ubiquitincarboxy-terminal hydrolase-L1, total Tau) and cytokines, including IL-6, IL-1β, IL-10, IL-13, interferon-gamma, TNF alpha and brain-derived neurotrophic factor are useful in diagnosing hypoxic-ischemic encephalopathy (HIE) and predicting nerve growth outcomes. However, optimal sensitivity and specificity of these biomarkers have not been achieved, which has limited their clinical application. This review focuses on biomarkers such as lactate, LDH, NRBC, NSE, S100B, GFAP, CPK-BB, IL-6, NPBI, UCHL-1. More sensitive and accurate instruments such as brain imaging (such as brain MRI), brain function (such as NIRS, aEEG), and long-term neuroassay should be used in the future to confirm biomarkers of neonatal brain damage.
{"title":"Biomarkers of Hypoxic-Ischemic Encephalopathy in Newborns","authors":"M. Noorishadkam, S. Savabieh, Mohammadreza Sharifi","doi":"10.18502/WJPN.V3I1.5063","DOIUrl":"https://doi.org/10.18502/WJPN.V3I1.5063","url":null,"abstract":"Biomarkers are particles that are released from target organs during tissue hypoxia injury. Recognizing biomarkers released from the damaged brain helps physicians determine the extent of tissue damage and the use of protective techniques in clinical treatment. Previous studies revealed that biomarkers such as brain-specific proteins (neuron-specific enolase (NSE), S100B, ubiquitincarboxy-terminal hydrolase-L1, total Tau) and cytokines, including IL-6, IL-1β, IL-10, IL-13, interferon-gamma, TNF alpha and brain-derived neurotrophic factor are useful in diagnosing hypoxic-ischemic encephalopathy (HIE) and predicting nerve growth outcomes. However, optimal sensitivity and specificity of these biomarkers have not been achieved, which has limited their clinical application. This review focuses on biomarkers such as lactate, LDH, NRBC, NSE, S100B, GFAP, CPK-BB, IL-6, NPBI, UCHL-1. More sensitive and accurate instruments such as brain imaging (such as brain MRI), brain function (such as NIRS, aEEG), and long-term neuroassay should be used in the future to confirm biomarkers of neonatal brain damage.","PeriodicalId":328568,"journal":{"name":"World Journal of Peri & Neonatology","volume":"195 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123086326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Ghadyani, M. Noorishadkam, Seyed Hamed Hosseini-Jangjou, R. Bahrami, E. Akbarian, Maryam Saeida-Ardekani, H. Neamatzadeh, Zahra Zare
Background: Retinopathy of prematurity (ROP) is a major cause of blindness in newborn infants worldwide. It is well known that neovascularization of the retina is prominent in the proliferative stages of ROP. It is suggested that vascular endothelial growth factor (VEGF) may play a role in the development of ROP. The aim of this study was to evaluate the association of the VEGF -634C/G polymorphism at VEGF with risk of ROP. Methods: In the study 54 neonates diagnosed with ROP and 55 healthy neonates served as controls. The VEGF -634 C/G polymorphism was genotyped by restriction fragment length polymorphism (PCR-RFLP) technique. Results: The CC, CG, and GG genotypes of VEGF -634C/G polymorphism were found in 33.3%, 38.9%, and 27.8% of neonates with ROP, respectively. In controls, CC, CG, and GG genotypes were seen in 43.6%, 45.4%, and 10.9%, respectively. Frequency of mutant allele (C) was 52.8% in neonates with ROP and 66.4% in healthy neonates. There was a significant difference in the distribution of VEGF -634C/G polymorphisms between cases and controls. Moreover, there was a significant association between VEGF -634C/G polymorphisms and ROP risk (OR = 3.141, 95% CI 1.115-8.851, P = 0.030). Conclusion: This study results revealed that VEGF -634C/G polymorphism might serve as a risk factor for development of ROP. Thus, clinicians should be aware of the ROP risk in infant with the VEGF -634C/G polymorphism and ROP risk in infants. However, large sample size and well-designed studies are necessary to validate our findings.
背景:早产儿视网膜病变(ROP)是全世界新生儿失明的主要原因。众所周知，视网膜新生血管的形成在ROP的增殖阶段是突出的。提示血管内皮生长因子(VEGF)可能参与了ROP的发生发展。本研究的目的是评估VEGF -634C/G多态性与ROP风险的关系。方法:以54例诊断为ROP的新生儿和55例健康新生儿为对照。采用限制性内切片段长度多态性(PCR-RFLP)技术对VEGF -634 C/G多态性进行基因分型。结果:在ROP新生儿中，VEGF -634C/G多态性基因型分别为CC、CG、GG，分别为33.3%、38.9%、27.8%。在对照组中，CC、CG和GG基因型分别占43.6%、45.4%和10.9%。突变等位基因(C)的频率在ROP新生儿中为52.8%，在健康新生儿中为66.4%。VEGF -634C/G多态性在病例和对照组之间的分布差异有统计学意义。此外，VEGF -634C/G多态性与ROP风险之间存在显著相关性(OR = 3.141, 95% CI 1.115-8.851, P = 0.030)。结论:VEGF -634C/G多态性可能是发生ROP的危险因素。因此，临床医生应该了解VEGF -634C/G多态性婴儿的ROP风险和婴儿的ROP风险。然而，为了验证我们的发现，需要大量的样本和精心设计的研究。
{"title":"Association of -634 C/G Polymorphism at Vascular Endothelial Growth Factor Gene with Risk Retinopathy of Prematurity","authors":"M. Ghadyani, M. Noorishadkam, Seyed Hamed Hosseini-Jangjou, R. Bahrami, E. Akbarian, Maryam Saeida-Ardekani, H. Neamatzadeh, Zahra Zare","doi":"10.18502/WJPN.V3I1.5060","DOIUrl":"https://doi.org/10.18502/WJPN.V3I1.5060","url":null,"abstract":"Background: Retinopathy of prematurity (ROP) is a major cause of blindness in newborn infants worldwide. It is well known that neovascularization of the retina is prominent in the proliferative stages of ROP. It is suggested that vascular endothelial growth factor (VEGF) may play a role in the development of ROP. The aim of this study was to evaluate the association of the VEGF -634C/G polymorphism at VEGF with risk of ROP. \u0000Methods: In the study 54 neonates diagnosed with ROP and 55 healthy neonates served as controls. The VEGF -634 C/G polymorphism was genotyped by restriction fragment length polymorphism (PCR-RFLP) technique. \u0000Results: The CC, CG, and GG genotypes of VEGF -634C/G polymorphism were found in 33.3%, 38.9%, and 27.8% of neonates with ROP, respectively. In controls, CC, CG, and GG genotypes were seen in 43.6%, 45.4%, and 10.9%, respectively. Frequency of mutant allele (C) was 52.8% in neonates with ROP and 66.4% in healthy neonates. There was a significant difference in the distribution of VEGF -634C/G polymorphisms between cases and controls. Moreover, there was a significant association between VEGF -634C/G polymorphisms and ROP risk (OR = 3.141, 95% CI 1.115-8.851, P = 0.030). \u0000Conclusion: This study results revealed that VEGF -634C/G polymorphism might serve as a risk factor for development of ROP. Thus, clinicians should be aware of the ROP risk in infant with the VEGF -634C/G polymorphism and ROP risk in infants. However, large sample size and well-designed studies are necessary to validate our findings.","PeriodicalId":328568,"journal":{"name":"World Journal of Peri & Neonatology","volume":"48 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117282038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease due to a lack of β-galactosidase activity, exactly because of mutations in the GLB1 gene. GM1 gangliosidosis is a rare disease that could occur either during infancy (infantile type 1), as a juvenile (type 2), or in adulthood (type 3) in both nervous and skeletal systems. Type 1 is characterized by premature psychomotor deterioration, visceromegaly, macular cherry-red spot, skeletal deformities, and death in the first 2 years of life. Case Presentation: We reported an Iranian infant who, on initial check-up, had coarse face, visceromegaly, dystonia, and hepatosplenomegaly that increased at 15 months of age. At the initial check-up, a genetic test was performed and GM1 gangliosidosis type 1 was diagnosed. Conclusion: infant form is characterized by early-onset before the age of 6 months and rapidly progressive psychomotor deterioration, facial abnormalities, and visceromegaly.
{"title":"Clinical Features of Infantile GM1 Gangliosidosis: Report of an Iranian Patient","authors":"M. Ordooei, R. Fallah, F. Abdi, F. Soheilipour","doi":"10.18502/WJPN.V3I1.5066","DOIUrl":"https://doi.org/10.18502/WJPN.V3I1.5066","url":null,"abstract":"Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease due to a lack of β-galactosidase activity, exactly because of mutations in the GLB1 gene. GM1 gangliosidosis is a rare disease that could occur either during infancy (infantile type 1), as a juvenile (type 2), or in adulthood (type 3) in both nervous and skeletal systems. Type 1 is characterized by premature psychomotor deterioration, visceromegaly, macular cherry-red spot, skeletal deformities, and death in the first 2 years of life. \u0000Case Presentation: We reported an Iranian infant who, on initial check-up, had coarse face, visceromegaly, dystonia, and hepatosplenomegaly that increased at 15 months of age. At the initial check-up, a genetic test was performed and GM1 gangliosidosis type 1 was diagnosed. \u0000Conclusion: infant form is characterized by early-onset before the age of 6 months and rapidly progressive psychomotor deterioration, facial abnormalities, and visceromegaly.","PeriodicalId":328568,"journal":{"name":"World Journal of Peri & Neonatology","volume":"51 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130842096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Carnitine palmitoyltransferase 1A deficiency is a rare genetic disorder with autosomal recessive inheritance pattern of fatty acid metabolism secondary to CPT1A mutation. Several dozen infants and children have been described with a deficiency of the liver and kidney CPT1 isoenzyme (CPT1-A). Clinical manifestation includes fasting-induced hypoketotic hypoglycemia, occasionally with extremely abnormal liver function test (LFT) and rarely with renal tubular acidosis. Acyl carnitine analysis has been the main method for the diagnosis of CPT1A deficiency. Prompt treatment of hypoglycemia includes intravenous fluid containing 10% dextrose. To prevent hypoglycemia, infants should eat frequently during the day and have cornstarch continuously at night. Fasting should not last more than 12 hours during illness, surgery, or medical procedures. Case Presentation: We reported three patients with CPT1A deficiency presented with hypoglycemia and Reye like syndrome in early childhood that with early diagnosis and treatment they are well in follow-up. Conclusion: Prognosis of this genetic disorder will be good with appropriate treatment.
{"title":"Three Patients with CPT1A Deficiency: Literature Review and Case Series","authors":"N. Mirhosseini, M. Saatchi, S. Taghiyar","doi":"10.18502/WJPN.V3I1.5064","DOIUrl":"https://doi.org/10.18502/WJPN.V3I1.5064","url":null,"abstract":"Background: Carnitine palmitoyltransferase 1A deficiency is a rare genetic disorder with autosomal recessive inheritance pattern of fatty acid metabolism secondary to CPT1A mutation. Several dozen infants and children have been described with a deficiency of the liver and kidney CPT1 isoenzyme (CPT1-A). Clinical manifestation includes fasting-induced hypoketotic hypoglycemia, occasionally with extremely abnormal liver function test (LFT) and rarely with renal tubular acidosis. Acyl carnitine analysis has been the main method for the diagnosis of CPT1A deficiency. Prompt treatment of hypoglycemia includes intravenous fluid containing 10% dextrose. To prevent hypoglycemia, infants should eat frequently during the day and have cornstarch continuously at night. Fasting should not last more than 12 hours during illness, surgery, or medical procedures. \u0000Case Presentation: We reported three patients with CPT1A deficiency presented with hypoglycemia and Reye like syndrome in early childhood that with early diagnosis and treatment they are well in follow-up. \u0000Conclusion: Prognosis of this genetic disorder will be good with appropriate treatment.","PeriodicalId":328568,"journal":{"name":"World Journal of Peri & Neonatology","volume":"63 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131244702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Esmat Sadeghifar, Mehrdad Salari, Frahnaz Farnia, S. Mirzae, K. Nasiriani
Background: Human resources, especially nurses, have a significant role in health care services due to the nature of their service and their direct relationships with patients. In this regard, nurses are encountered with higher stressful factors resulting from their responsibilities in providing ease and comfort for patients. Resiliency is one of the main purposes of health promotion and is considered to be a protective agent. Moreover, psychological well-being refers to striving for perfection in order to realize the potential and real individual talents and abilities. This study aims to determine the relationship between resiliency and psychological well-being of nurses in ICU & NICU of Shiraz in 2017. Methods: This is a descriptive-correlational research. The statistical society consists of 150 nurses working in ICU & NICU of university hospitals in Shiraz. The tools of data collection were psychological well-being and resiliency questionnaires. The collected data were analyzed via SPSS software and descriptive-inferential statistics. Results: According to the Table, 86% of the subjects are females, and 14% are males; 53.4% of them are single, and 44.6% of them are married; 84% of them have bachelor degree, and 16% of them have master degree. Average age and work experience of the subjects are 31.38 and 4.79 years, respectively. Average resiliency and psychological well-being scores of the nurses are estimated to be 66.03 ± 16.72 and 119.55 ± 24.35, respectively. Their significant relationship was approved by Pearson test P = 0.002). Conclusions: The results indicated that resiliency and psychological well-being of the nurses have significant relationship; with an increase in resiliency, their psychological and mental health increases. Therefore, some programs and interventions are recommended for nurses in order to improve their resiliency, and consequently, promote their psychological well-being.
{"title":"Investigating the Relationship between Resiliency and Psychological Well-Being of Nurses in ICU & NICU of University Hospitals of Shiraz in 2012","authors":"Esmat Sadeghifar, Mehrdad Salari, Frahnaz Farnia, S. Mirzae, K. Nasiriani","doi":"10.18502/wjpn.v2i1.2808","DOIUrl":"https://doi.org/10.18502/wjpn.v2i1.2808","url":null,"abstract":"Background: Human resources, especially nurses, have a significant role in health care services due to the nature of their service and their direct relationships with patients. In this regard, nurses are encountered with higher stressful factors resulting from their responsibilities in providing ease and comfort for patients. Resiliency is one of the main purposes of health promotion and is considered to be a protective agent. Moreover, psychological well-being refers to striving for perfection in order to realize the potential and real individual talents and abilities. This study aims to determine the relationship between resiliency and psychological well-being of nurses in ICU & NICU of Shiraz in 2017. \u0000 \u0000Methods: This is a descriptive-correlational research. The statistical society consists of 150 nurses working in ICU & NICU of university hospitals in Shiraz. The tools of data collection were psychological well-being and resiliency questionnaires. The collected data were analyzed via SPSS software and descriptive-inferential statistics. \u0000 \u0000Results: According to the Table, 86% of the subjects are females, and 14% are males; 53.4% of them are single, and 44.6% of them are married; 84% of them have bachelor degree, and 16% of them have master degree. Average age and work experience of the subjects are 31.38 and 4.79 years, respectively. Average resiliency and psychological well-being scores of the nurses are estimated to be 66.03 ± 16.72 and 119.55 ± 24.35, respectively. Their significant relationship was approved by Pearson test P = 0.002). \u0000 \u0000Conclusions: The results indicated that resiliency and psychological well-being of the nurses have significant relationship; with an increase in resiliency, their psychological and mental health increases. Therefore, some programs and interventions are recommended for nurses in order to improve their resiliency, and consequently, promote their psychological well-being.","PeriodicalId":328568,"journal":{"name":"World Journal of Peri & Neonatology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129250524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mojtaba Jahantiq, M. Mazaheri, Tayebeh Rabaninia, A. Javaheri, Nooshin Amjadi
Background: Congenital anomalies are conditions of prenatal origin that are present at birth, potentially impacting an infant's health, development and survival. The birth of a newborn with congenital anomalies imposes financial and emotional burdens on families. The aim of this study was to investigate the epidemiology of congenital anomalies in 2014 in Zabol, Iran. Methods: This cross-sectional study was carried out in the Amir Al-Momenin Hospital between May of 2013 and April 2014. All the live born were included, and we have examined all newborns for the presence of congenital anomalies. Results: During the twelve months, 9,309 newborns were included to the study. Of them, 72 (0.8%) newborns were affected with a congenital malformation. The congenital anomalies affected significantly higher proportion of male newborns (66.7%) than female newborns (33.3%). Among of them, musculoskeletal system abnormalities account for 45.9% of the total abnormalities allocating the highest frequency to itself. Subsequently, central nervous system abnormality (19.4%), gastrointestinal anomaly (15.3%), urinary tract abnormality (9.7%), chromosomal abnormality (2.8%), and multiple anomalies (1.4%) were frequent, respectively. Conclusion: This study showed that prevalence of congenital anomalies is restively high in Zabol city. The results of this study identify the necessity of genetic counseling and early diagnosis to prevention, care and surveillance.
{"title":"Prevalence of Congenital Anomalies in Newborns in Zabol: A Single Hospital Based Study","authors":"Mojtaba Jahantiq, M. Mazaheri, Tayebeh Rabaninia, A. Javaheri, Nooshin Amjadi","doi":"10.18502/wjpn.v1i1.2780","DOIUrl":"https://doi.org/10.18502/wjpn.v1i1.2780","url":null,"abstract":"Background: Congenital anomalies are conditions of prenatal origin that are present at birth, potentially impacting an infant's health, development and survival. The birth of a newborn with congenital anomalies imposes financial and emotional burdens on families. The aim of this study was to investigate the epidemiology of congenital anomalies in 2014 in Zabol, Iran. \u0000 \u0000Methods: This cross-sectional study was carried out in the Amir Al-Momenin Hospital between May of 2013 and April 2014. All the live born were included, and we have examined all newborns for the presence of congenital anomalies. \u0000 \u0000Results: During the twelve months, 9,309 newborns were included to the study. Of them, 72 (0.8%) newborns were affected with a congenital malformation. The congenital anomalies affected significantly higher proportion of male newborns (66.7%) than female newborns (33.3%). Among of them, musculoskeletal system abnormalities account for 45.9% of the total abnormalities allocating the highest frequency to itself. Subsequently, central nervous system abnormality (19.4%), gastrointestinal anomaly (15.3%), urinary tract abnormality (9.7%), chromosomal abnormality (2.8%), and multiple anomalies (1.4%) were frequent, respectively. \u0000 \u0000Conclusion: This study showed that prevalence of congenital anomalies is restively high in Zabol city. The results of this study identify the necessity of genetic counseling and early diagnosis to prevention, care and surveillance.","PeriodicalId":328568,"journal":{"name":"World Journal of Peri & Neonatology","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125672383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kolsoum Rezaie Kahkhaie, Ashrafali Rezaie Kehkhaie, Leili Rezaie Kahkhaie, Maryam Koochakzai, K. R. Keikhaie, Maryam Nakhaee Moghaddam
Background: The aim of this study was to determine the relationship between ages above 35 years old and gestational diabetes mellitus in Zabol. Methods: This study was conducted in Zabol city during 2016-2017. Analyzing the data to check the validity of the hypothesis in any type of research is of particular importance and is performed nowadays in most research studies based on the data gathered from the subjects under study. Data analysis is one of the main and most important parts of any research. Raw data is analyzed using statistical software. Results: The results of this study showed that according to the gestational diabetes mellitus score of 150 mothers, about gestational diabetes, 11 cases (7.3%) had gestational diabetes, and 132 (92.7%) others have not experienced gestational diabetes. Generally, according to the average score (1.92), there is no gestational diabetes in mothers. Conclusion: The most important risk factors for gestational diabetes are age-obesity and familial history, respectively.
{"title":"A Survey on the Relationship between Ages above 35 Years and Gestational Diabetes Mellitus","authors":"Kolsoum Rezaie Kahkhaie, Ashrafali Rezaie Kehkhaie, Leili Rezaie Kahkhaie, Maryam Koochakzai, K. R. Keikhaie, Maryam Nakhaee Moghaddam","doi":"10.18502/wjpn.v1i1.2781","DOIUrl":"https://doi.org/10.18502/wjpn.v1i1.2781","url":null,"abstract":"Background: The aim of this study was to determine the relationship between ages above 35 years old and gestational diabetes mellitus in Zabol. \u0000 \u0000Methods: This study was conducted in Zabol city during 2016-2017. Analyzing the data to check the validity of the hypothesis in any type of research is of particular importance and is performed nowadays in most research studies based on the data gathered from the subjects under study. Data analysis is one of the main and most important parts of any research. Raw data is analyzed using statistical software. \u0000 \u0000Results: The results of this study showed that according to the gestational diabetes mellitus score of 150 mothers, about gestational diabetes, 11 cases (7.3%) had gestational diabetes, and 132 (92.7%) others have not experienced gestational diabetes. Generally, according to the average score (1.92), there is no gestational diabetes in mothers. \u0000 \u0000Conclusion: The most important risk factors for gestational diabetes are age-obesity and familial history, respectively.","PeriodicalId":328568,"journal":{"name":"World Journal of Peri & Neonatology","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125111395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Farber disease is a very rare autosomal recessive disease of lipid metabolism caused by deficient activity of lysosomal acid ceramidase. Symptoms can begin in the first year of life by a triad of painful and swollen joints and subcutaneous nodules, progressive hoarseness and variable central nervous system involvement. Case Report: A 5 months old girl with subcutaneous nodules in limbs, pain and swelling in her fingers, Knees, elbow and hoarseness was referred to our clinic. She had neurodevelopment delay in walking and talking. Genetic analysis was reported homozygosity for a c.830C>A mutation in exon 11 of N-Acylsphingosine Amidohydrolase 1 (ASAH1) gene. She diagnosed with Farber disease and treated with bone marrow transplantation. After that her signs and symptoms were improved and she could to walk. Conclusion: Farber disease is associated with characteristics including swollen joints, subcutaneous nodules, progressive hoarseness and variable CNS involvement. Moreover, bone marrow transplantation improved these symptoms.
{"title":"A Girl with Farber Disease Treated with Bone Marrow Transplantation","authors":"N. Mirhosseini, Elham Farasat, E. Sheikhpour","doi":"10.18502/wjpn.v1i1.2786","DOIUrl":"https://doi.org/10.18502/wjpn.v1i1.2786","url":null,"abstract":"Background: Farber disease is a very rare autosomal recessive disease of lipid metabolism caused by deficient activity of lysosomal acid ceramidase. Symptoms can begin in the first year of life by a triad of painful and swollen joints and subcutaneous nodules, progressive hoarseness and variable central nervous system involvement. \u0000 \u0000Case Report: A 5 months old girl with subcutaneous nodules in limbs, pain and swelling in her fingers, Knees, elbow and hoarseness was referred to our clinic. She had neurodevelopment delay in walking and talking. Genetic analysis was reported homozygosity for a c.830C>A mutation in exon 11 of N-Acylsphingosine Amidohydrolase 1 (ASAH1) gene. She diagnosed with Farber disease and treated with bone marrow transplantation. After that her signs and symptoms were improved and she could to walk. \u0000 \u0000Conclusion: Farber disease is associated with characteristics including swollen joints, subcutaneous nodules, progressive hoarseness and variable CNS involvement. Moreover, bone marrow transplantation improved these symptoms.","PeriodicalId":328568,"journal":{"name":"World Journal of Peri & Neonatology","volume":"15 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126461889","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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