Abstract Lowe syndrome (LS) is a rare X-linked condition having a clinical triad of congenital cataracts, intellectual disability, and progressive tubular nephropathy. Although the easily recognizable symptom complex usually evolves by infancy, a unifying diagnosis is often missed. We present a young boy with a prolonged history of multisystem affection, finally leading to the clinical suspicion of LS. The diagnosis was confirmed on genetic analysis as well as a previously unreported mutation in the OCRL gene was discovered. A 9-year-old boy with intellectual disability and recent onset seizures was referred for the evaluation of rickets. In addition, there was a significant past history of neonatal cataracts, infantile glaucoma, persistent albuminuria, and severe short stature with growth hormone deficiency. The characteristic involvement of eyes, brain, and kidneys along with a family history of a maternal uncle being similarly affected led to the clinical suspicion of LS. A whole exome sequencing was performed, which not only confirmed a nonsense mutation, c.2530C > T, in exon 23 of the Lowe gene (OCRL) but also revealed it to be a novel pathogenic variant. This case highlights the importance of piecing together the different facets of a complex clinical syndrome in reaching a challenging diagnosis. Also, LS must be kept as a differential in any child with neonatal cataracts and intellectual disability. Genetic confirmation of LS in our patient partly relieved the parental anxiety, and the child continued to remain under follow-up with multiple specialists, only now with a definite diagnosis.
{"title":"Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene","authors":"A. Parikh, P. Gadgil","doi":"10.1055/s-0041-1724042","DOIUrl":"https://doi.org/10.1055/s-0041-1724042","url":null,"abstract":"Abstract Lowe syndrome (LS) is a rare X-linked condition having a clinical triad of congenital cataracts, intellectual disability, and progressive tubular nephropathy. Although the easily recognizable symptom complex usually evolves by infancy, a unifying diagnosis is often missed. We present a young boy with a prolonged history of multisystem affection, finally leading to the clinical suspicion of LS. The diagnosis was confirmed on genetic analysis as well as a previously unreported mutation in the OCRL gene was discovered. A 9-year-old boy with intellectual disability and recent onset seizures was referred for the evaluation of rickets. In addition, there was a significant past history of neonatal cataracts, infantile glaucoma, persistent albuminuria, and severe short stature with growth hormone deficiency. The characteristic involvement of eyes, brain, and kidneys along with a family history of a maternal uncle being similarly affected led to the clinical suspicion of LS. A whole exome sequencing was performed, which not only confirmed a nonsense mutation, c.2530C > T, in exon 23 of the Lowe gene (OCRL) but also revealed it to be a novel pathogenic variant. This case highlights the importance of piecing together the different facets of a complex clinical syndrome in reaching a challenging diagnosis. Also, LS must be kept as a differential in any child with neonatal cataracts and intellectual disability. Genetic confirmation of LS in our patient partly relieved the parental anxiety, and the child continued to remain under follow-up with multiple specialists, only now with a definite diagnosis.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0041-1724042","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45191425","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}
Abstract Multisystem inflammatory syndrome in children (MIS-C) is a systemic disorder that seems to be associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Since April 2020, there have been multiple reports about children with this new condition worldwide, including Europe, Asia, Latin America, and North America. The symptoms of this syndrome mimic the clinical manifestations of Kawasaki disease; therefore, the treatment of Kawasaki disease, as well as supportive care, was the management of choice in children with MIS-C in the early days of recognizing it. It is important to precisely ascertain the risk of COVID-19 infection and its severity in children and to acknowledge the management of this syndrome, with reliable data from cohorts, trials, and experts' opinions. In the current review, we summarize the current management guidelines for MIS-C and present our own protocol to answer some clinical questions regarding MIS-C management during the COVID-19 pandemic.
{"title":"Current Treatment Guidelines of SARS-CoV-2 Related Multisystem Inflammatory Syndrome in Children: A Literature Review and Expert Opinion","authors":"A. Ghodsi, Mehrdad Sarabi, A. Malek, A. Khakshour","doi":"10.1055/s-0041-1731077","DOIUrl":"https://doi.org/10.1055/s-0041-1731077","url":null,"abstract":"Abstract Multisystem inflammatory syndrome in children (MIS-C) is a systemic disorder that seems to be associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Since April 2020, there have been multiple reports about children with this new condition worldwide, including Europe, Asia, Latin America, and North America. The symptoms of this syndrome mimic the clinical manifestations of Kawasaki disease; therefore, the treatment of Kawasaki disease, as well as supportive care, was the management of choice in children with MIS-C in the early days of recognizing it. It is important to precisely ascertain the risk of COVID-19 infection and its severity in children and to acknowledge the management of this syndrome, with reliable data from cohorts, trials, and experts' opinions. In the current review, we summarize the current management guidelines for MIS-C and present our own protocol to answer some clinical questions regarding MIS-C management during the COVID-19 pandemic.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0041-1731077","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42461995","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}
Abstract Hypertension is a silent threat to the developing countries in recent times. The aim of this article was to determine the burden of prehypertension and hypertension among school-going children and the risk factors associated with those conditions. A cross-sectional study was conducted among school-going children (6–18 years) in seven schools of Burdwan, West Bengal, India, selected by stratified random sampling from March 2017 to August 2018. Anthropometric and blood pressure measurements were obtained along with sociodemographic parameters. Prehypertension and hypertension were defined as per American Pediatric Society's definition. Mean age of the study population was 11.3 ± 3.8 years (n = 604). Prevalence of prehypertension and hypertension was estimated to be 5% and 4.6%, respectively. Both prehypertension and hypertension were more common among children aged > 15 years (10.3% and 15.5%). In logistic regression, the independent determinants of hypertension were higher socioeconomic condition, increasing age, obesity, increased intake of junk food, parental hypertension, and obesity among first-degree relatives. Proper preventive measures are the need of the hour to tackle the emerging epidemic at its root. Periodic measurements of blood pressure at regular intervals are advisable at community levels to recognize high-risk children, control obesity, and prevent irreversible end organ damages.
{"title":"A Study on Burden of Prehypertension in Youth (or Pediatric Hypertension) in West Bengal, India","authors":"S. RoyChoudhury, K. Nayek, Jinia Saha","doi":"10.1055/s-0041-1736240","DOIUrl":"https://doi.org/10.1055/s-0041-1736240","url":null,"abstract":"Abstract Hypertension is a silent threat to the developing countries in recent times. The aim of this article was to determine the burden of prehypertension and hypertension among school-going children and the risk factors associated with those conditions. A cross-sectional study was conducted among school-going children (6–18 years) in seven schools of Burdwan, West Bengal, India, selected by stratified random sampling from March 2017 to August 2018. Anthropometric and blood pressure measurements were obtained along with sociodemographic parameters. Prehypertension and hypertension were defined as per American Pediatric Society's definition. Mean age of the study population was 11.3 ± 3.8 years (n = 604). Prevalence of prehypertension and hypertension was estimated to be 5% and 4.6%, respectively. Both prehypertension and hypertension were more common among children aged > 15 years (10.3% and 15.5%). In logistic regression, the independent determinants of hypertension were higher socioeconomic condition, increasing age, obesity, increased intake of junk food, parental hypertension, and obesity among first-degree relatives. Proper preventive measures are the need of the hour to tackle the emerging epidemic at its root. Periodic measurements of blood pressure at regular intervals are advisable at community levels to recognize high-risk children, control obesity, and prevent irreversible end organ damages.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42517844","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}
Abstract The aim of this study is to find out the frequency of anisometropic amblyopia in children and to increase awareness about this disease. All children between the ages of 4 and 10 years who were attending 11 kindergarten and primary schools determined by provincial directorate for national education in the center of Malatya were included. A screening team including interns and a resident from the Department of Pediatrics have used Plusoptix A09 handheld photo-refractometer device for detecting amblyopia and its reasons. A total of 7,000 students were screened. The mean age of the students was 7.4 ± 2 years. Amblyopia was suspected in 357 cases with the Plusoptix S09 screening. After eye examinations performed by an ophthalmologist, 303 cases were found to have pathologic eye examination. Amblyopia was found in 67 (18.8%) of the 303 cases, and anisometropic amblyopia was found in 59 of 67 cases. As a result of the screening, sensitivity of Plusoptix A09 was found to be 88.1%, while its specificity was found to be 88.6%. Its positive predictive value was found to be 64.0% and its negative predictive value was found to be 97.0%. We believe that with screenings performed by health professionals who are given short-term training by using a device that can conduct remote measurements, detection of anisometropic amblyopia, which is the most frequent reason for amblyopia, can be done in a fast and relatively less expensive way and with the minimum number of specialist physician required. This way, children with amblyopia can reach the ophthalmologist earlier for treatment.
{"title":"Assessment of the Utility of Plusoptix A09 Handheld Photo-refractometer in Screening Refractory Errors and Amblyopia in Children","authors":"M. S. Sinanoglu, Y. Cengiz, S. Demirel","doi":"10.1055/s-0041-1728731","DOIUrl":"https://doi.org/10.1055/s-0041-1728731","url":null,"abstract":"Abstract The aim of this study is to find out the frequency of anisometropic amblyopia in children and to increase awareness about this disease. All children between the ages of 4 and 10 years who were attending 11 kindergarten and primary schools determined by provincial directorate for national education in the center of Malatya were included. A screening team including interns and a resident from the Department of Pediatrics have used Plusoptix A09 handheld photo-refractometer device for detecting amblyopia and its reasons. A total of 7,000 students were screened. The mean age of the students was 7.4 ± 2 years. Amblyopia was suspected in 357 cases with the Plusoptix S09 screening. After eye examinations performed by an ophthalmologist, 303 cases were found to have pathologic eye examination. Amblyopia was found in 67 (18.8%) of the 303 cases, and anisometropic amblyopia was found in 59 of 67 cases. As a result of the screening, sensitivity of Plusoptix A09 was found to be 88.1%, while its specificity was found to be 88.6%. Its positive predictive value was found to be 64.0% and its negative predictive value was found to be 97.0%. We believe that with screenings performed by health professionals who are given short-term training by using a device that can conduct remote measurements, detection of anisometropic amblyopia, which is the most frequent reason for amblyopia, can be done in a fast and relatively less expensive way and with the minimum number of specialist physician required. This way, children with amblyopia can reach the ophthalmologist earlier for treatment.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0041-1728731","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42817613","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}
Abstract Pediatric patients are referred for multiple reasons, either for better therapeutic services or diagnostic purposes. The clinical condition of patients at the time of referral can significantly affect the outcome of such patients and there is not much data on this aspect. The overall objective of this study was to study the demographic and clinical profile, the causes for referral, and the outcome of pediatric patients being referred to a single tertiary care hospital. This was a prospective observational study done in the Department of Pediatrics of a single tertiary care hospital in North India over the course of 1 year. Patients referred from other health facilities in the age group 0 to 12 years who were admitted in the pediatric ward of the hospital were enrolled. The primary objective was to study the clinical profile and outcome (mortality) of these patients. The secondary objectives were to study the referral pattern of the referred patients, causes for referral, and the severity of illness at the time of admission as assessed by Irish Pediatric Early Warning Score (PEWS) and its correlation with the outcome. The outcomes were categorized as: discharge, death, left against medical advice, referred to other centers, others. Early warning scores are useful to measure the severity of disease and to follow patients' progress. The Irish PEWS score was used in this study to provide a rapid measure of the degree of sickness. Respiratory system disorders and neonatal illnesses were the most common illnesses observed. Most patients had low disease severity as per Irish PEWS score. The overall mortality rate among the referred patients was 19.25%. Patients with younger age, higher scores, neonatal illnesses, and neurological disorders had higher risk of mortality. Training of health personnel at primary and secondary levels in the commonly encountered illnesses will improve provision of care at the local level and decrease low risk referrals.
{"title":"The Clinical Profile, Early Warning Score, and Outcome of Children Aged 0–12 Years Referred to a Tertiary Care Hospital in North India","authors":"B. Eswaramoorthy, R. Gupta, M. Bhatt, M. Roy","doi":"10.1055/s-0041-1731334","DOIUrl":"https://doi.org/10.1055/s-0041-1731334","url":null,"abstract":"Abstract Pediatric patients are referred for multiple reasons, either for better therapeutic services or diagnostic purposes. The clinical condition of patients at the time of referral can significantly affect the outcome of such patients and there is not much data on this aspect. The overall objective of this study was to study the demographic and clinical profile, the causes for referral, and the outcome of pediatric patients being referred to a single tertiary care hospital. This was a prospective observational study done in the Department of Pediatrics of a single tertiary care hospital in North India over the course of 1 year. Patients referred from other health facilities in the age group 0 to 12 years who were admitted in the pediatric ward of the hospital were enrolled. The primary objective was to study the clinical profile and outcome (mortality) of these patients. The secondary objectives were to study the referral pattern of the referred patients, causes for referral, and the severity of illness at the time of admission as assessed by Irish Pediatric Early Warning Score (PEWS) and its correlation with the outcome. The outcomes were categorized as: discharge, death, left against medical advice, referred to other centers, others. Early warning scores are useful to measure the severity of disease and to follow patients' progress. The Irish PEWS score was used in this study to provide a rapid measure of the degree of sickness. Respiratory system disorders and neonatal illnesses were the most common illnesses observed. Most patients had low disease severity as per Irish PEWS score. The overall mortality rate among the referred patients was 19.25%. Patients with younger age, higher scores, neonatal illnesses, and neurological disorders had higher risk of mortality. Training of health personnel at primary and secondary levels in the commonly encountered illnesses will improve provision of care at the local level and decrease low risk referrals.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0041-1731334","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44368364","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}
Abstract Unilateral absence of pulmonary artery (UAPA) is a rare entity. Diagnosis is often incidental based on echocardiography (ECHO)/computed tomography (CT) findings done for a cardiac evaluation or recurrent pulmonary pathology not responding to conventional treatment. Childhood-onset symptoms are often rare, and most of these cases are reported in adulthood or postpuberty. Here, we present a 5-month-old child with an isolated absence of right pulmonary artery without even an arterial stump or collaterals. Treatment options depend on the severity of symptoms and anatomy of the abnormal vessels, and in some cases, patients get better, if not completely well with the available medical and surgical treatments.
{"title":"Infantile Isolated Absence of Right Pulmonary Artery with an Absent Stump and No Collaterals","authors":"S. Patil, Sayantan Ghoshbag, U. Pillay","doi":"10.1055/s-0040-1722567","DOIUrl":"https://doi.org/10.1055/s-0040-1722567","url":null,"abstract":"Abstract Unilateral absence of pulmonary artery (UAPA) is a rare entity. Diagnosis is often incidental based on echocardiography (ECHO)/computed tomography (CT) findings done for a cardiac evaluation or recurrent pulmonary pathology not responding to conventional treatment. Childhood-onset symptoms are often rare, and most of these cases are reported in adulthood or postpuberty. Here, we present a 5-month-old child with an isolated absence of right pulmonary artery without even an arterial stump or collaterals. Treatment options depend on the severity of symptoms and anatomy of the abnormal vessels, and in some cases, patients get better, if not completely well with the available medical and surgical treatments.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1722567","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44160437","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}
Abstract The current review assesses the literature concerning the etiology of primary teeth staining and discoloration. The appearance of the dentition is of concern to many children and their caregivers seeking dental treatment as the color of the teeth is of aesthetic importance. The correct diagnosis of the cause of the discoloration is important as, invariably, it has a profound effect on treatment outcomes. It would seem reasonable, therefore, that dental practitioners understand the etiology of tooth discoloration to make a diagnosis and enable appropriate treatment to be conducted. Knowledge of the etiology of tooth staining is of importance to the dental practitioner to explain the patient the exact nature of the condition. In some instances, the mechanism of staining affects the outcome of the treatment and influences the options the dentist will be able to offer. Many of these contributing factors are preventable if parents are educated, managed by professional interventions, or provide a multidisciplinary approach. In this review, we highlight the importance of children smiles and the difference between primary and permanent teeth. We discuss the different types of primary teeth staining and discoloration and whether it is intrinsic or extrinsic, as well as the different impacts of some conditions on primary teeth compared with permanent teeth.
{"title":"Primary Teeth Stains and Discoloration: A Review","authors":"Abdulfatah Alazmah","doi":"10.1055/s-0040-1722276","DOIUrl":"https://doi.org/10.1055/s-0040-1722276","url":null,"abstract":"Abstract The current review assesses the literature concerning the etiology of primary teeth staining and discoloration. The appearance of the dentition is of concern to many children and their caregivers seeking dental treatment as the color of the teeth is of aesthetic importance. The correct diagnosis of the cause of the discoloration is important as, invariably, it has a profound effect on treatment outcomes. It would seem reasonable, therefore, that dental practitioners understand the etiology of tooth discoloration to make a diagnosis and enable appropriate treatment to be conducted. Knowledge of the etiology of tooth staining is of importance to the dental practitioner to explain the patient the exact nature of the condition. In some instances, the mechanism of staining affects the outcome of the treatment and influences the options the dentist will be able to offer. Many of these contributing factors are preventable if parents are educated, managed by professional interventions, or provide a multidisciplinary approach. In this review, we highlight the importance of children smiles and the difference between primary and permanent teeth. We discuss the different types of primary teeth staining and discoloration and whether it is intrinsic or extrinsic, as well as the different impacts of some conditions on primary teeth compared with permanent teeth.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1722276","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46695120","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}
O. El-Asheer, Ahmed G. Ahmed, Z. Hafez, M. Dahpy, Amal A. S. Soliman
Abstract Lactoferrin (LF) is an iron-binding globular glycoprotein that is structurally and chemically similar to serum transferrin. Many studies have been done to evaluate the effect of oral LF administration on iron deficiency anemia (IDA) with controversial results. This study was designed to compare the efficacy of LF versus oral ferrous sulfate (OFS) therapy in the treatment of children with IDA. A significant increase in mean hemoglobin and serum iron concentrations was noted in the group that received oral bovine LF (11.06 ± 0.96 and 42.79 ± 6.14, respectively) versus the group that received OFS (10.24 ± 0.57 and 28.94 ± 5.05, respectively, with p < 0.001 for each) after 30 days of the treatment with fewer side effects (9.3 vs. 33.3% with p = 0.043). Oral bovine LF is a more effective and safer alternative in treating iron deficiency and IDA compared with OFS with clinical benefits of fewer side effects and better patient compliance.
{"title":"Lactoferrin Efficacy versus Ferrous Sulfate in Treatment of Children with Iron Deficiency Anemia","authors":"O. El-Asheer, Ahmed G. Ahmed, Z. Hafez, M. Dahpy, Amal A. S. Soliman","doi":"10.1055/s-0041-1731073","DOIUrl":"https://doi.org/10.1055/s-0041-1731073","url":null,"abstract":"Abstract Lactoferrin (LF) is an iron-binding globular glycoprotein that is structurally and chemically similar to serum transferrin. Many studies have been done to evaluate the effect of oral LF administration on iron deficiency anemia (IDA) with controversial results. This study was designed to compare the efficacy of LF versus oral ferrous sulfate (OFS) therapy in the treatment of children with IDA. A significant increase in mean hemoglobin and serum iron concentrations was noted in the group that received oral bovine LF (11.06 ± 0.96 and 42.79 ± 6.14, respectively) versus the group that received OFS (10.24 ± 0.57 and 28.94 ± 5.05, respectively, with p < 0.001 for each) after 30 days of the treatment with fewer side effects (9.3 vs. 33.3% with p = 0.043). Oral bovine LF is a more effective and safer alternative in treating iron deficiency and IDA compared with OFS with clinical benefits of fewer side effects and better patient compliance.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0041-1731073","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41645278","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}
S. Abdelmaksoud, Heba Elsayed Abdelraziq, R. Khashaba, A. Diab
Abstract The aim of this study was to compare the effects of delayed cord clamping (DCC) and early cord clamping (ECC) on venous hematocrit (htc) and clinical outcomes in infants of diabetic mothers (IDMs). This prospective randomized study included 157 term IDMs. The umbilical cords of these infants were clamped at least 60 seconds in group I (DCC group, n = 79) and as soon as possible after birth in group II (ECC group, n = 78). The two groups were compared regarding neonatal venous htc levels, hypoglycemia rates, jaundice requiring phototherapy, respiratory distress, and admission to the neonatal intensive care unit (NICU). Hematocrit levels were significantly higher in the DCC group, both at 6 and 24 hours postnatally (p = 0.039 and 0.01), respectively. Polycythemia frequency was higher in DCC than the ECC group, but no patient in either group needed partial exchange transfusion (PET). Rates of jaundice were significantly higher in the DCC group (p = 0.028), but there was no significant difference between the two groups regarding jaundice requiring phototherapy (p = 0.681). There were no differences between the groups regarding hypoglycemia rates, need for glucose infusion, or respiratory distress. The incidence of admission to NICU was lower in the DCC group (p = 0.005). Early clamping was a significant predictor for increased risk of NICU admission. DCC increased polycythemia and jaundice rates but did not increase the need for PET or phototherapy. Also, DCC reduced the severity of respiratory distress and the subsequent need for NICU admission.
{"title":"Delayed Cord Clamping in Infants of Diabetic Mothers: Laboratory and Clinical Outcomes","authors":"S. Abdelmaksoud, Heba Elsayed Abdelraziq, R. Khashaba, A. Diab","doi":"10.1055/s-0041-1726460","DOIUrl":"https://doi.org/10.1055/s-0041-1726460","url":null,"abstract":"Abstract The aim of this study was to compare the effects of delayed cord clamping (DCC) and early cord clamping (ECC) on venous hematocrit (htc) and clinical outcomes in infants of diabetic mothers (IDMs). This prospective randomized study included 157 term IDMs. The umbilical cords of these infants were clamped at least 60 seconds in group I (DCC group, n = 79) and as soon as possible after birth in group II (ECC group, n = 78). The two groups were compared regarding neonatal venous htc levels, hypoglycemia rates, jaundice requiring phototherapy, respiratory distress, and admission to the neonatal intensive care unit (NICU). Hematocrit levels were significantly higher in the DCC group, both at 6 and 24 hours postnatally (p = 0.039 and 0.01), respectively. Polycythemia frequency was higher in DCC than the ECC group, but no patient in either group needed partial exchange transfusion (PET). Rates of jaundice were significantly higher in the DCC group (p = 0.028), but there was no significant difference between the two groups regarding jaundice requiring phototherapy (p = 0.681). There were no differences between the groups regarding hypoglycemia rates, need for glucose infusion, or respiratory distress. The incidence of admission to NICU was lower in the DCC group (p = 0.005). Early clamping was a significant predictor for increased risk of NICU admission. DCC increased polycythemia and jaundice rates but did not increase the need for PET or phototherapy. Also, DCC reduced the severity of respiratory distress and the subsequent need for NICU admission.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0041-1726460","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47797356","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}
S. Maheshwari, S. Yangzom, K. Bhanu, U. Rajesh, Ashok Narayan
Abstract Van Buchem disease is a rare autosomal recessive genetic disorder that causes a compromised inhibitory feedback mechanism resulting in increased bone formation and overgrowth of the skeleton leading to a variety of neurological symptoms. It has been reported in less than 50 patients most of which were in western Europe. We report the first case of this condition from the Indian subcontinent with an early presentation. This patient presented with a global delay in attaining the developmental milestones and progressive reduction in visual acuity and loss of hearing. He had dysmorphic facies, multiple cranial nerve palsies, and severe visual and auditory deficits. Imaging revealed sclerosing bone dysplasia. This case illustrates the clinical and imaging findings of this rare condition.
{"title":"Van Buchem Disease: First Case Report from the Indian Subcontinent with an Early Presentation","authors":"S. Maheshwari, S. Yangzom, K. Bhanu, U. Rajesh, Ashok Narayan","doi":"10.1055/s-0041-1723956","DOIUrl":"https://doi.org/10.1055/s-0041-1723956","url":null,"abstract":"Abstract Van Buchem disease is a rare autosomal recessive genetic disorder that causes a compromised inhibitory feedback mechanism resulting in increased bone formation and overgrowth of the skeleton leading to a variety of neurological symptoms. It has been reported in less than 50 patients most of which were in western Europe. We report the first case of this condition from the Indian subcontinent with an early presentation. This patient presented with a global delay in attaining the developmental milestones and progressive reduction in visual acuity and loss of hearing. He had dysmorphic facies, multiple cranial nerve palsies, and severe visual and auditory deficits. Imaging revealed sclerosing bone dysplasia. This case illustrates the clinical and imaging findings of this rare condition.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0041-1723956","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49184019","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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