BACKGROUND Neonatal screening(NS)is a public health policy to identify genetic pathologies such as cystic fibrosis(CF),sickle cell disease,and other diseases.Sickle cell disea-se is the comprehensive term for a group ...BACKGROUND Neonatal screening(NS)is a public health policy to identify genetic pathologies such as cystic fibrosis(CF),sickle cell disease,and other diseases.Sickle cell disea-se is the comprehensive term for a group of hemoglobinopathies characterized by the presence of hemoglobin S.CF is an autosomal recessive multisystemic disease with pathophysiology involving deleterious mutations in the transmembrane re-gulatory gene that encodes a protein that regulates the activity of chloride and sodium channels in the cell surface epithelium.NS is crucial for early diagnosis and management,which ensures a better quality of life.AIM To report a case of the coexistence of sickle cell anemia(SCA)and CF and perform an integrative literature review.METHODS This is an observational study and a review of the literature focusing on two rare genetic pathologies identified simultaneously in NS from the perspective of a clinical case.The authors identified only 5 cases of SCA associated with CF.No clinical trials or review articles were identified considering the rarity of the coexistence of these two pathologies.RESULTS Herein,the authors reported the case of a girl who after undergoing NS on day 8 of life was diagnosed with SCA with an alteration in the dosage of immunoreactive trypsin.The diagnosis of CF was confirmed by the Coulometry Sweat Test.The rarity of the co-occurrence of these two severe genetic pathologies(CF and SCA)is a challenge for medical science.CONCLUSION This study adds to the few case reports present in the literature that highlight the identification of two severe diseases via NS.展开更多
AIM： To detect the incidence of retinopathy of prematurity （ROP） in a tertiary referral neonatal intensive care unit in upper Egypt and to describe the obstacles faced during implementing the screening protocol for...AIM： To detect the incidence of retinopathy of prematurity （ROP） in a tertiary referral neonatal intensive care unit in upper Egypt and to describe the obstacles faced during implementing the screening protocol for the first time. METHODS： Consecutive infants were enrolled at birth and screened for ROP. We used the UK ROP guideline （May 2008） for infant selection, follow up and treatment. Repeat examinations were performed until retinal vascularisation was complete. RESULTS： Fifty-two infants were enrolled： 24 males and 28 females. Mean gestational age was 31.3wk （±2.8 SD） and mean birth weight was 1234,6 g （±221.1 SD）. Incidence of ROP was 36.5% （stages 1, 2, 3 and 4a were 9.6%, 9.6%, 15.4% and 1.9% respectively）, no stages 4b or 5 were found in this series. Six infants （11.5%） died during screening without ROP, 25 infants （48.1%） were discharged from screening with retinal vascularisation reaching zone III, 5 infants （9.6%） were treated with indirect diode with or without additional cryotherapy and 16 infants （30.8%） were lost to follow up. In this series gestational age rather than birth weight was found significantly correlated and predictive （P〈0.05） with ROP stages. CONCLUSION： ROP in a single site in upper Egypt appears to have comparable incidence to other areas worldwide. The main screening obstacle was missing cases due to the absence of a national ROP screening protocol.展开更多
Background Pulse oximetry screening（POS） has been proposed as an effective,noninvasive,inexpensive tool allowing earlier diagnosis of critical congenital heart disease（CCHD）.However,most neonates are discharged fr...Background Pulse oximetry screening（POS） has been proposed as an effective,noninvasive,inexpensive tool allowing earlier diagnosis of critical congenital heart disease（CCHD）.However,most neonates are discharged from the hospital without this evaluation in China.This study aimed at assessing the feasibility of POS for newborns in detecting CCHD in the department of obstetrics and neonatal intensive care unit（NICU）.Methods POS was performed in 355 neonates born in the department of obstetrics or admitted to the NICU between January 2015 and June 2015.These neonates were divided into normal group,mild congenital heart disease group（MCHD） and CCHD group,according to the result of echocardiography or computerized tomography（CT）.The gestational age,birth weight and arterial oxygen saturation（SpO_2） were compared among the three groups.The SpO_2 value and diagnosis time of the CCHD cases were classified and analyzed.Results The premature birth and low birth weight were the high risk factors of mild congenital heart disease.There was no difference（P 〉 0.05） in SpO_2 between the MCHD group and the normal group.Significant difference in the SpO_2 appeared between the CCHD group and the normal group（P 〈 0.05）.Combination of POS and clinical examination can reduce the missing diagnosis rate in screening for CCHD.Conclusions POS incurs very low cost and risk of harm and is not required for special training,therefore,an effective way to identify CCHD in neonates.展开更多
Juvenile hypothyroidism is an unfrequent form of hypothyroidism that affects children. If not diagnosed and treated properly, it may cause severe neurological disorders during growth. The most frequent difficulties ar...Juvenile hypothyroidism is an unfrequent form of hypothyroidism that affects children. If not diagnosed and treated properly, it may cause severe neurological disorders during growth. The most frequent difficulties are found in school performance, difficulties in concentration, hyperactivity or fatigue and damage on the onset of puberty. Starting levothyroxine as a drug of choice is essential, and it should be made according to the age and weight of the child. Laboratory tests for control should be requested periodically, along with a strict control of the child’s development and growth. The family-doctor relationship, along with a clear guidance on the importance of treatment, is critical to achieve a successful treatment. This article is a review about the main clinical features of hypothyroidism in childhood, especially in developing countries, providing key aspects of adherence and characteristics of its follow-up.展开更多
Abstract Objectives To assess the incidence of tetrahydrobiopterin (BH4)deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese and evaluate clinical outcome and gene mutations in tetrahydrobi...Abstract Objectives To assess the incidence of tetrahydrobiopterin (BH4)deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese and evaluate clinical outcome and gene mutations in tetrahydrobiopterin deficient patients.Methods Urinary neopterin (N) and biopterin (B) was analyzed in 87 patients with hyperphenylalaninemia by high-performance liquid chromatography. Further combined loading tests with phenylalanine(Phe) (100*!mg/kg) and tetrahydrobiopterin (BH4) (7.5*!mg/kg) were performed in suspected patients with abnormal urinary pterin profiles. Gene mutation analysis was performed for patients with BH4 deficiency and their parents. BH4 deficient patients were treated with BH4 and neurotransmitter precursors after diagnosis. Blood phenylalanine levels, clinical symptoms and mental development were followed up.Results Eleven patients were diagnosed as having BH4 deficiency caused by 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency. The incidence of tetrahydrobiopterin (BH4) deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese was 10%. Combined loading tests with phenylalanine and oral BH4 were done in 4 of 11 patients and their phenylalanine levels were decreased to normal 4-6h after BH4 administration. Four different mutations (P87S, N52S, D96N and G144R) in the PTPS gene were detected in 5 families. Five PTPS-deficient patients were treated with synthetic BH4, neurotransmitter precursors (L-dopa plus carbidopa, and 5-hydroxytryptophan). They had satisfactory physical and mental development after treatment. One patient with partial PTPS deficiency had normal growth and mental development without treatment. Conclusions Our results emphasize that screening for BH4 deficiency should be carried out in all patients with hyperphenylalaninemia in order to minimize the misdiagnosis. Patients with BH4 deficiency should be treated early with BH4 and a combination of neurotransmitter precursors.展开更多
Objective To summarizethe status of screening of developmental dysplasia of the hip(DDH)in infants and young children 0-36 months of age and to generate a standardized process for DDH screening in infants and young ch...Objective To summarizethe status of screening of developmental dysplasia of the hip(DDH)in infants and young children 0-36 months of age and to generate a standardized process for DDH screening in infants and young children.Methods Preliminary DDH screening was carried out by obstetricians for newborns,and by pediatricians for infants and young children 0-36 months inpatients in ward,and by pediatric surgeon for infants and young children 0-36 months of age outpatient.Secondary screening was performed by pediatric orthopedic surgeons.In addition,ultrasound or radiograph examination of bilateral hip joints was performed.Suspected cases were followed up regularly until patients were diagnosed with DDH or excluded.Results From January2012 to December 2014,22396 infants and young children were screened at the First Affiliated Hospital of Zhengzhou University,Zhengzhou,China.Ultrasound examination was performed for 2669 patients,591 of whom(775 hips)with suspected and abnormal findings were transferred to the Department of Pediatric Orthopedics.Among the referrals,a positive Ortolani or Barlow test was observed in 61 patients(89 hips).Anteroposterior hip radiography showed acetabular dysplasia in 94 cases(131 hips).Finally,76 patients(121 hips)were diagnosed with DDH.Among them,21(29 hips)were males and 55(92 hips)were females.The left side was involved in 91 hips,and the right side was involved in 30 hips.Thirteen cases(including 3 newborns)were 1-6 months old(1.95%,13/6676),49 cases were 7-18 months old(7.09%,49/6909),and 14 cases were 19-36 months old(1.59%o,14/8811).Among the 76 cases of DDH,49(64.47%)were 7-18 months old.The incidence of hip dysplasia was 3.39%(76/22396).Conclusions During the present study,we screened infants and young children 0-36 months old for early detection and diagnosis of DDH and generated a standardized screening process based on the actual status of patients in our district.展开更多
文摘BACKGROUND Neonatal screening(NS)is a public health policy to identify genetic pathologies such as cystic fibrosis(CF),sickle cell disease,and other diseases.Sickle cell disea-se is the comprehensive term for a group of hemoglobinopathies characterized by the presence of hemoglobin S.CF is an autosomal recessive multisystemic disease with pathophysiology involving deleterious mutations in the transmembrane re-gulatory gene that encodes a protein that regulates the activity of chloride and sodium channels in the cell surface epithelium.NS is crucial for early diagnosis and management,which ensures a better quality of life.AIM To report a case of the coexistence of sickle cell anemia(SCA)and CF and perform an integrative literature review.METHODS This is an observational study and a review of the literature focusing on two rare genetic pathologies identified simultaneously in NS from the perspective of a clinical case.The authors identified only 5 cases of SCA associated with CF.No clinical trials or review articles were identified considering the rarity of the coexistence of these two pathologies.RESULTS Herein,the authors reported the case of a girl who after undergoing NS on day 8 of life was diagnosed with SCA with an alteration in the dosage of immunoreactive trypsin.The diagnosis of CF was confirmed by the Coulometry Sweat Test.The rarity of the co-occurrence of these two severe genetic pathologies(CF and SCA)is a challenge for medical science.CONCLUSION This study adds to the few case reports present in the literature that highlight the identification of two severe diseases via NS.
文摘AIM： To detect the incidence of retinopathy of prematurity （ROP） in a tertiary referral neonatal intensive care unit in upper Egypt and to describe the obstacles faced during implementing the screening protocol for the first time. METHODS： Consecutive infants were enrolled at birth and screened for ROP. We used the UK ROP guideline （May 2008） for infant selection, follow up and treatment. Repeat examinations were performed until retinal vascularisation was complete. RESULTS： Fifty-two infants were enrolled： 24 males and 28 females. Mean gestational age was 31.3wk （±2.8 SD） and mean birth weight was 1234,6 g （±221.1 SD）. Incidence of ROP was 36.5% （stages 1, 2, 3 and 4a were 9.6%, 9.6%, 15.4% and 1.9% respectively）, no stages 4b or 5 were found in this series. Six infants （11.5%） died during screening without ROP, 25 infants （48.1%） were discharged from screening with retinal vascularisation reaching zone III, 5 infants （9.6%） were treated with indirect diode with or without additional cryotherapy and 16 infants （30.8%） were lost to follow up. In this series gestational age rather than birth weight was found significantly correlated and predictive （P〈0.05） with ROP stages. CONCLUSION： ROP in a single site in upper Egypt appears to have comparable incidence to other areas worldwide. The main screening obstacle was missing cases due to the absence of a national ROP screening protocol.
文摘Background Pulse oximetry screening（POS） has been proposed as an effective,noninvasive,inexpensive tool allowing earlier diagnosis of critical congenital heart disease（CCHD）.However,most neonates are discharged from the hospital without this evaluation in China.This study aimed at assessing the feasibility of POS for newborns in detecting CCHD in the department of obstetrics and neonatal intensive care unit（NICU）.Methods POS was performed in 355 neonates born in the department of obstetrics or admitted to the NICU between January 2015 and June 2015.These neonates were divided into normal group,mild congenital heart disease group（MCHD） and CCHD group,according to the result of echocardiography or computerized tomography（CT）.The gestational age,birth weight and arterial oxygen saturation（SpO_2） were compared among the three groups.The SpO_2 value and diagnosis time of the CCHD cases were classified and analyzed.Results The premature birth and low birth weight were the high risk factors of mild congenital heart disease.There was no difference（P 〉 0.05） in SpO_2 between the MCHD group and the normal group.Significant difference in the SpO_2 appeared between the CCHD group and the normal group（P 〈 0.05）.Combination of POS and clinical examination can reduce the missing diagnosis rate in screening for CCHD.Conclusions POS incurs very low cost and risk of harm and is not required for special training,therefore,an effective way to identify CCHD in neonates.
文摘Juvenile hypothyroidism is an unfrequent form of hypothyroidism that affects children. If not diagnosed and treated properly, it may cause severe neurological disorders during growth. The most frequent difficulties are found in school performance, difficulties in concentration, hyperactivity or fatigue and damage on the onset of puberty. Starting levothyroxine as a drug of choice is essential, and it should be made according to the age and weight of the child. Laboratory tests for control should be requested periodically, along with a strict control of the child’s development and growth. The family-doctor relationship, along with a clear guidance on the importance of treatment, is critical to achieve a successful treatment. This article is a review about the main clinical features of hypothyroidism in childhood, especially in developing countries, providing key aspects of adherence and characteristics of its follow-up.
基金theShanghaiScientificandTechnologyCommittee (No .95 41190 3)
文摘Abstract Objectives To assess the incidence of tetrahydrobiopterin (BH4)deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese and evaluate clinical outcome and gene mutations in tetrahydrobiopterin deficient patients.Methods Urinary neopterin (N) and biopterin (B) was analyzed in 87 patients with hyperphenylalaninemia by high-performance liquid chromatography. Further combined loading tests with phenylalanine(Phe) (100*!mg/kg) and tetrahydrobiopterin (BH4) (7.5*!mg/kg) were performed in suspected patients with abnormal urinary pterin profiles. Gene mutation analysis was performed for patients with BH4 deficiency and their parents. BH4 deficient patients were treated with BH4 and neurotransmitter precursors after diagnosis. Blood phenylalanine levels, clinical symptoms and mental development were followed up.Results Eleven patients were diagnosed as having BH4 deficiency caused by 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency. The incidence of tetrahydrobiopterin (BH4) deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese was 10%. Combined loading tests with phenylalanine and oral BH4 were done in 4 of 11 patients and their phenylalanine levels were decreased to normal 4-6h after BH4 administration. Four different mutations (P87S, N52S, D96N and G144R) in the PTPS gene were detected in 5 families. Five PTPS-deficient patients were treated with synthetic BH4, neurotransmitter precursors (L-dopa plus carbidopa, and 5-hydroxytryptophan). They had satisfactory physical and mental development after treatment. One patient with partial PTPS deficiency had normal growth and mental development without treatment. Conclusions Our results emphasize that screening for BH4 deficiency should be carried out in all patients with hyperphenylalaninemia in order to minimize the misdiagnosis. Patients with BH4 deficiency should be treated early with BH4 and a combination of neurotransmitter precursors.
基金Provincial Joint Project by the National Health and Family Planning Commission with Henan Province Health and Family Planning Commission(201401007)the Scientific and Technological Key Project by Zhengzhou Science and Technology Bureau(131PPTGG409-23)
文摘Objective To summarizethe status of screening of developmental dysplasia of the hip(DDH)in infants and young children 0-36 months of age and to generate a standardized process for DDH screening in infants and young children.Methods Preliminary DDH screening was carried out by obstetricians for newborns,and by pediatricians for infants and young children 0-36 months inpatients in ward,and by pediatric surgeon for infants and young children 0-36 months of age outpatient.Secondary screening was performed by pediatric orthopedic surgeons.In addition,ultrasound or radiograph examination of bilateral hip joints was performed.Suspected cases were followed up regularly until patients were diagnosed with DDH or excluded.Results From January2012 to December 2014,22396 infants and young children were screened at the First Affiliated Hospital of Zhengzhou University,Zhengzhou,China.Ultrasound examination was performed for 2669 patients,591 of whom(775 hips)with suspected and abnormal findings were transferred to the Department of Pediatric Orthopedics.Among the referrals,a positive Ortolani or Barlow test was observed in 61 patients(89 hips).Anteroposterior hip radiography showed acetabular dysplasia in 94 cases(131 hips).Finally,76 patients(121 hips)were diagnosed with DDH.Among them,21(29 hips)were males and 55(92 hips)were females.The left side was involved in 91 hips,and the right side was involved in 30 hips.Thirteen cases(including 3 newborns)were 1-6 months old(1.95%,13/6676),49 cases were 7-18 months old(7.09%,49/6909),and 14 cases were 19-36 months old(1.59%o,14/8811).Among the 76 cases of DDH,49(64.47%)were 7-18 months old.The incidence of hip dysplasia was 3.39%(76/22396).Conclusions During the present study,we screened infants and young children 0-36 months old for early detection and diagnosis of DDH and generated a standardized screening process based on the actual status of patients in our district.
