Pub Date : 2019-01-01DOI: 10.15406/jpnc.2019.09.00377
María Inguanzo-Ortiz
We present the case of a previously healthy 9-month-old infant who went to the Emergency Department due to a 7-hour evolution of paroxysms of abdominal pain with vegetative symptoms that alternated with hypoactivity and progressive lethargy. Anorexia and vomiting were also associated, fever was absent and the last stool was 12 hours prior, with normal characteristics. Vital signs were normal. On physical examination, the involvement of the general state with obtundation was noteworthy. The meningeal signs were negative, and there was no neurological focality. The abdomen was painful and presented tenderness on the right flank without signs of peritonism. Blood analysis was normal, and urine was negative for toxins. Abdominal radiograph revealed abundant radiopaque material in the small and large intestines without signs of intestinal perforation or pneumatosis (Figure 1). Abdominal ultrasonography confirmed ileocolic invagination. The parents denied the administration of contrast but reported copious sand intake 10 hours before the onset of symptoms. In view of the clinical suspicion of intestinal invagination secondary to massive sand intake, ultrasound guided hydrostatic reduction was performed. During the procedure, the symptoms suddenly ceased and the patient became asymptomatic. A large amount of sand was removed. Sand enteropathy due to ingestion of sand is rather common in horses.1 Geophagia is a form of pica considered normal in some cultures. Its aetiology is multifactorial and has been postulated as a marker of possible micronutrient deficit.2 One of its complications is intestinal obstruction and may be the point of origin of an intestinal intussusception.3-5
{"title":"Intestinal intussusception secondary to massives and intake","authors":"María Inguanzo-Ortiz","doi":"10.15406/jpnc.2019.09.00377","DOIUrl":"https://doi.org/10.15406/jpnc.2019.09.00377","url":null,"abstract":"We present the case of a previously healthy 9-month-old infant who went to the Emergency Department due to a 7-hour evolution of paroxysms of abdominal pain with vegetative symptoms that alternated with hypoactivity and progressive lethargy. Anorexia and vomiting were also associated, fever was absent and the last stool was 12 hours prior, with normal characteristics. Vital signs were normal. On physical examination, the involvement of the general state with obtundation was noteworthy. The meningeal signs were negative, and there was no neurological focality. The abdomen was painful and presented tenderness on the right flank without signs of peritonism. Blood analysis was normal, and urine was negative for toxins. Abdominal radiograph revealed abundant radiopaque material in the small and large intestines without signs of intestinal perforation or pneumatosis (Figure 1). Abdominal ultrasonography confirmed ileocolic invagination. The parents denied the administration of contrast but reported copious sand intake 10 hours before the onset of symptoms. In view of the clinical suspicion of intestinal invagination secondary to massive sand intake, ultrasound guided hydrostatic reduction was performed. During the procedure, the symptoms suddenly ceased and the patient became asymptomatic. A large amount of sand was removed. Sand enteropathy due to ingestion of sand is rather common in horses.1 Geophagia is a form of pica considered normal in some cultures. Its aetiology is multifactorial and has been postulated as a marker of possible micronutrient deficit.2 One of its complications is intestinal obstruction and may be the point of origin of an intestinal intussusception.3-5","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67080816","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}
Pub Date : 2019-01-01DOI: 10.15406/JPNC.2019.09.00376
Many Mashako Ruhanga
The millennium Development Goals (MDGs) in 2015 have not been achieved.1 Neonatal death is defined as newborn death occurring within the first four weeks after birth.2,3 The first 28 days of life or the neonatal period is most vulnerable time for child’s survival. Globally 2.5 million children died in the first month of life in 2017. 1 million dying on the first day and close to 1 million dying within the next six days.4 A vast majority of global neonatal deaths take place in the in developing countries while approximately 70% of these deaths occur in just two World Health Organization: Africa and south-East Asian.5,6 In Sub-Saharan Africa alone 1.2 million newborns died every year equivalent to 13 000 deaths per days or almost nine death every minutes.7,8 50% of neonatal deaths occur in just five countries: Nigeria, Democratic, Republic of Congo, Ethiopia, Tanzania and Uganda. Majority of neonatal deaths in this party of Africa occur at home,9 in rural communities,10 among the poor and poorest,11 less educated,12,13 and in war regions.14‒16 Also causes and risk factors of neonatal death vary by country with the availability in relation with quality of health care.13 Democratic Republic of Congo, ranks second among Africa countries with higher neonatal mortality rate more than 28 per 1000 live births.17,18 Understanding those neonatal mortality factors is crucial to realize sustainable development goal in this country. Objective of this study was undertaken to assess maternal and neonatal risk factors of neonate’s deaths in Goma, East Democratic Republic of Congo. Methods and material
{"title":"Predictive factors of neonatal mortality in intensive neonatal care unit at Goma Eastern Democratic Republic of Congo","authors":"Many Mashako Ruhanga","doi":"10.15406/JPNC.2019.09.00376","DOIUrl":"https://doi.org/10.15406/JPNC.2019.09.00376","url":null,"abstract":"The millennium Development Goals (MDGs) in 2015 have not been achieved.1 Neonatal death is defined as newborn death occurring within the first four weeks after birth.2,3 The first 28 days of life or the neonatal period is most vulnerable time for child’s survival. Globally 2.5 million children died in the first month of life in 2017. 1 million dying on the first day and close to 1 million dying within the next six days.4 A vast majority of global neonatal deaths take place in the in developing countries while approximately 70% of these deaths occur in just two World Health Organization: Africa and south-East Asian.5,6 In Sub-Saharan Africa alone 1.2 million newborns died every year equivalent to 13 000 deaths per days or almost nine death every minutes.7,8 50% of neonatal deaths occur in just five countries: Nigeria, Democratic, Republic of Congo, Ethiopia, Tanzania and Uganda. Majority of neonatal deaths in this party of Africa occur at home,9 in rural communities,10 among the poor and poorest,11 less educated,12,13 and in war regions.14‒16 Also causes and risk factors of neonatal death vary by country with the availability in relation with quality of health care.13 Democratic Republic of Congo, ranks second among Africa countries with higher neonatal mortality rate more than 28 per 1000 live births.17,18 Understanding those neonatal mortality factors is crucial to realize sustainable development goal in this country. Objective of this study was undertaken to assess maternal and neonatal risk factors of neonate’s deaths in Goma, East Democratic Republic of Congo. Methods and material","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67080811","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}
Pub Date : 2019-01-01DOI: 10.15406/jpnc.2019.09.00378
D. Hamod
The presence of abnormal numbers of a chromosome, known as Aneuploidy, is commonly encountered in the clinical practice of Pediatrics. Although Down syndrome (Trisomy 21) is still the most common example of aneuploidy, rarer forms include Patau syndrome (Trisomy 13), Edward syndrome (Trisomy 18), Turner syndrome (45X0) and Klinefelter syndrome (47XXY). Double aneuploidy, is a rare chromosomal abnormality detected after birth since most reported cases are presented in the form of one lethal aneuploidy and end in early miscarriage.1–3 It is extremely rare to find living newborn cases with double autosomal trisomy or autosomal trisomy with sex chromosome monosomy or trisomy.4,5 Knowing that Edward syndrome and Klinefelter syndrome are relatively common aneuploidies, to date, scant published cases of the double aneuploidy Trisomy 18/XXY have been described in the literature.6 This case report describes a new occurrence of double aneuploidy Edward syndrome/Klinefelter syndrome in a Lebanese baby boy. The present case is the first reported case of double aneuploidy in Lebanon.
{"title":"When Edwards meets Klinefelter: a new case of double Aneuploidy","authors":"D. Hamod","doi":"10.15406/jpnc.2019.09.00378","DOIUrl":"https://doi.org/10.15406/jpnc.2019.09.00378","url":null,"abstract":"The presence of abnormal numbers of a chromosome, known as Aneuploidy, is commonly encountered in the clinical practice of Pediatrics. Although Down syndrome (Trisomy 21) is still the most common example of aneuploidy, rarer forms include Patau syndrome (Trisomy 13), Edward syndrome (Trisomy 18), Turner syndrome (45X0) and Klinefelter syndrome (47XXY). Double aneuploidy, is a rare chromosomal abnormality detected after birth since most reported cases are presented in the form of one lethal aneuploidy and end in early miscarriage.1–3 It is extremely rare to find living newborn cases with double autosomal trisomy or autosomal trisomy with sex chromosome monosomy or trisomy.4,5 Knowing that Edward syndrome and Klinefelter syndrome are relatively common aneuploidies, to date, scant published cases of the double aneuploidy Trisomy 18/XXY have been described in the literature.6 This case report describes a new occurrence of double aneuploidy Edward syndrome/Klinefelter syndrome in a Lebanese baby boy. The present case is the first reported case of double aneuploidy in Lebanon.","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67080820","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}
Pub Date : 2019-01-01DOI: 10.15406/jpnc.2019.09.00379
H. Sv
A 14-year-old boy with history of generalized joint hypermobility and ongoing genetics work-up for connective tissue disorder presented to our hospital for one day of acute left-sided chest pain and shortness of breath after feeling a “pop” in his chest while trying to put on a jacket. He was tachycardic and had absent breath sounds in the left lobe. A chest X-ray showed a large left pleural effusion and a subsequent CT chest demonstrated a large left hemothorax with a psuedoaneurysm of the left subclavian artery (LSCA) at the base of the vertebral artery. Angiography confirmed the presence of a LSCA pseudoaneurysm that measured 15 by 8mm (Figure 1A video/Panel A). A 5mm by 3 cm Cordis OptaPro balloon was then placed in the LSCA just distal to the vertebral artery and proximal angiogram demonstrating that the bleed could be occluded without obstructing flow to the vertebral artery. Subsequently, the patient underwent successful placement of a 6 mm Gore VBX stent (Figure 1B video/Panel B) via positioning with an Amplatz Extra Stiff wire in the distal LSCA without obstruction to flow to the vertebral artery. At follow-up, the patient is doing well and was recently confirmed to have PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (1902+1G>T variant). Causes of subclavian artery pseudoaneurysms include connective-tissue disorders, congenital defects and infections.
一名14岁男孩，有广泛性关节活动过度病史，正在进行结缔组织疾病遗传学检查，在试图穿夹克时感到胸部“啪”的一声后，因急性左侧胸痛和呼吸短促来到我院。他心跳过速左肺叶无呼吸音。胸部x光片显示左侧大量胸腔积液，随后的胸部CT显示左侧大量血胸并在椎动脉底部左侧锁骨下动脉(LSCA)出现假性动脉瘤。血管造影证实LSCA假性动脉瘤的存在，尺寸为15 × 8mm(图1A视频/面板a)。然后将5mm × 3cm的Cordis OptaPro球囊放置在LSCA椎动脉远端，近端血管造影显示出血可以被阻塞，而不会阻塞椎动脉的血流。随后，患者通过Amplatz Extra Stiff金属丝在LSCA远端定位成功放置了6mm Gore vx支架(图1B视频/面板B)，没有阻碍椎动脉的血流。在随访中，患者情况良好，最近被证实患有plod1相关的后凸性Ehlers-Danlos综合征(1902+1G >t变体)。锁骨下动脉假性动脉瘤的病因包括结缔组织紊乱、先天性缺陷和感染。
{"title":"Spontaneous rupture of a left subclavian artery pseudoaneurysm in a child","authors":"H. Sv","doi":"10.15406/jpnc.2019.09.00379","DOIUrl":"https://doi.org/10.15406/jpnc.2019.09.00379","url":null,"abstract":"A 14-year-old boy with history of generalized joint hypermobility and ongoing genetics work-up for connective tissue disorder presented to our hospital for one day of acute left-sided chest pain and shortness of breath after feeling a “pop” in his chest while trying to put on a jacket. He was tachycardic and had absent breath sounds in the left lobe. A chest X-ray showed a large left pleural effusion and a subsequent CT chest demonstrated a large left hemothorax with a psuedoaneurysm of the left subclavian artery (LSCA) at the base of the vertebral artery. Angiography confirmed the presence of a LSCA pseudoaneurysm that measured 15 by 8mm (Figure 1A video/Panel A). A 5mm by 3 cm Cordis OptaPro balloon was then placed in the LSCA just distal to the vertebral artery and proximal angiogram demonstrating that the bleed could be occluded without obstructing flow to the vertebral artery. Subsequently, the patient underwent successful placement of a 6 mm Gore VBX stent (Figure 1B video/Panel B) via positioning with an Amplatz Extra Stiff wire in the distal LSCA without obstruction to flow to the vertebral artery. At follow-up, the patient is doing well and was recently confirmed to have PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (1902+1G>T variant). Causes of subclavian artery pseudoaneurysms include connective-tissue disorders, congenital defects and infections.","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67080825","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}
Pub Date : 2019-01-01DOI: 10.15406/JPNC.2019.09.00369
M. Acosta
Rey Manuel Hurtado Llamas,1 María Elena Haro Acosta,2 Joan Dautt Silva3 1Pediatric Hematologist, Gynecology-Pediatrics and Family Medicine Hospital No. 31 of the Mexican Institute of Social Security (IMSS). Mexico 2D.C. and Pediatrician, Coordinator of Health Research, Baja California Delegation of IMSS, México 3Medical intern, Gynecology-Pediatrics and Family Medicine Hospital No. 31 of IMSS, Mexico
Rey Manuel Hurtado Llamas,1 María Elena Haro Acosta,2 Joan Dautt Silva3 1儿科血液学家，墨西哥社会保障研究所(IMSS)第31妇科儿科和家庭医学医院。墨西哥2特区。IMSS下加利福尼亚州代表团卫生研究协调员、儿科医生，墨西哥IMSS第31妇科、儿科和家庭医学医院医学实习生
{"title":"Management of febrile neutropenia in pediatric cancer patients","authors":"M. Acosta","doi":"10.15406/JPNC.2019.09.00369","DOIUrl":"https://doi.org/10.15406/JPNC.2019.09.00369","url":null,"abstract":"Rey Manuel Hurtado Llamas,1 María Elena Haro Acosta,2 Joan Dautt Silva3 1Pediatric Hematologist, Gynecology-Pediatrics and Family Medicine Hospital No. 31 of the Mexican Institute of Social Security (IMSS). Mexico 2D.C. and Pediatrician, Coordinator of Health Research, Baja California Delegation of IMSS, México 3Medical intern, Gynecology-Pediatrics and Family Medicine Hospital No. 31 of IMSS, Mexico","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67080744","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}
Pub Date : 2019-01-01DOI: 10.15406/JPNC.2019.09.00373
Masresha Leta
Abbreviations: AIDS, acquired immunodeficiency syndrome; ANC, antenatal care; CI, confidence interval; CSA, central statistics agency; EDHS, Ethiopian demographic and health survey; ETB, Ethiopian birr; EONS, early onset of neonatal sepsis; FMOH, federal ministry of health; HIV, human immune deficiency virus; HIE, hypoxic-ischemic-encephalopathy; IEC, information education and communication; MAS, meconium aspiration syndrome; MMR, maternal mortality ratio; MSc, master of science; NICU, neonatal intensive care unit; PI, principal investigato; SGH, subgalian hemorrhage; STI, sexually transmitted infection; UN, united nation; UNICEF, united nations children’s fund; WHO, world health organization
{"title":"Diagnose at admission and factors associated with management outcome of neonate in ayder referral hospital, Northern Ethiopia: institutional based cross-sectional record review study","authors":"Masresha Leta","doi":"10.15406/JPNC.2019.09.00373","DOIUrl":"https://doi.org/10.15406/JPNC.2019.09.00373","url":null,"abstract":"Abbreviations: AIDS, acquired immunodeficiency syndrome; ANC, antenatal care; CI, confidence interval; CSA, central statistics agency; EDHS, Ethiopian demographic and health survey; ETB, Ethiopian birr; EONS, early onset of neonatal sepsis; FMOH, federal ministry of health; HIV, human immune deficiency virus; HIE, hypoxic-ischemic-encephalopathy; IEC, information education and communication; MAS, meconium aspiration syndrome; MMR, maternal mortality ratio; MSc, master of science; NICU, neonatal intensive care unit; PI, principal investigato; SGH, subgalian hemorrhage; STI, sexually transmitted infection; UN, united nation; UNICEF, united nations children’s fund; WHO, world health organization","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67080759","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}
Pub Date : 2019-01-01DOI: 10.15406/JPNC.2019.09.00375
M. Acosta
{"title":"Periodontal condition in children with hemato-oncological diseases","authors":"M. Acosta","doi":"10.15406/JPNC.2019.09.00375","DOIUrl":"https://doi.org/10.15406/JPNC.2019.09.00375","url":null,"abstract":"","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67080766","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}
Pub Date : 2019-01-01DOI: 10.15406/JPNC.2019.09.00380
J. Shrestha
Cough is an important defensive reflex that enhances the clearance of secretions and particles from the airways and helps to protect the lower airways from the aspiration of foreign material.1 It can be of infectious origin i.e. bacterial or viral and/or due to irritant or allergen in the respiratory tract.2 Acute cough in majority of children is from Upper Respiratory Tract Infection (URTI) i.e. common cold. Hallmarks of the common cold include runny nose, cough, and congestion. Mostly cough from acute URTIs are due to viral infections.3 Cough can be distressing for parents especially when it interferes with child’s daily activities and disturb parents and child’s sleep. It also results in absenteeism from school. As it is a major concern for parents, it is the most common presenting symptom to the general practitioners.4 Though an immediate remedy is usually sought by the caregiver, there is no effective treatment beyond ordinary supportive care. American Academy of Pediatrics (AAP) strongly recommends against the use of over-the-counter cough and cold medications in infants and children below two years of age. It also highlights that cold and cough products do not work in children younger than 6 years and can have potentially serious side effects.5 The World Health Organization (WHO) has noted honey as a potential treatment of cough and cold symptoms, and it is considered as a demulcent that is inexpensive, popular, and safe(outside of the infant population).6 The objective of this trial was to compare the effects of a single nocturnal dose of honey to placebo on nocturnal cough and the sleep difficulty associated with URTI.
{"title":"Role of honey in children with acute cough in upper respiratory tract infection: randomized, placebo-controlled study","authors":"J. Shrestha","doi":"10.15406/JPNC.2019.09.00380","DOIUrl":"https://doi.org/10.15406/JPNC.2019.09.00380","url":null,"abstract":"Cough is an important defensive reflex that enhances the clearance of secretions and particles from the airways and helps to protect the lower airways from the aspiration of foreign material.1 It can be of infectious origin i.e. bacterial or viral and/or due to irritant or allergen in the respiratory tract.2 Acute cough in majority of children is from Upper Respiratory Tract Infection (URTI) i.e. common cold. Hallmarks of the common cold include runny nose, cough, and congestion. Mostly cough from acute URTIs are due to viral infections.3 Cough can be distressing for parents especially when it interferes with child’s daily activities and disturb parents and child’s sleep. It also results in absenteeism from school. As it is a major concern for parents, it is the most common presenting symptom to the general practitioners.4 Though an immediate remedy is usually sought by the caregiver, there is no effective treatment beyond ordinary supportive care. American Academy of Pediatrics (AAP) strongly recommends against the use of over-the-counter cough and cold medications in infants and children below two years of age. It also highlights that cold and cough products do not work in children younger than 6 years and can have potentially serious side effects.5 The World Health Organization (WHO) has noted honey as a potential treatment of cough and cold symptoms, and it is considered as a demulcent that is inexpensive, popular, and safe(outside of the infant population).6 The objective of this trial was to compare the effects of a single nocturnal dose of honey to placebo on nocturnal cough and the sleep difficulty associated with URTI.","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67080833","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}
Pub Date : 2019-01-01DOI: 10.15406/jpnc.2019.09.00368
M. Hussain
Inborn errors of metabolism are a common cause of inherited disease1 of which lysosomal storage diseases (LSDs) are a significant subgroup.2,3 Although the first clinical descriptions of patients with lysosomal storage disorders (LSDs) were reported at the end of the nineteenth century by Warren Tay,4 Bernard Sachs (1887; Tay-Sachs disease)5, and by PhillipeGaucher (1882; Gaucher disease)6,the biochemical nature of the accumulated products was only elucidated some 50 years later7. Considerably more time was then required for the demonstration by Hers that there was a link between an enzyme deficiency and a storage disorder (Pompe disease).8
先天性代谢错误是遗传性疾病的常见原因1，其中溶酶体贮积病(lsd)是一个重要的亚群。2,3虽然溶酶体贮积症(lsd)患者的第一个临床描述是在19世纪末由Warren Tay,4 Bernard Sachs (1887;5，由PhillipeGaucher (1882;戈谢病)6，积累产物的生化性质直到大约50年后才被阐明7。随后，她花了相当多的时间来证明酶缺乏和储存障碍(庞贝病)之间存在联系
{"title":"Current status and challenges for LSDs in Bangladesh","authors":"M. Hussain","doi":"10.15406/jpnc.2019.09.00368","DOIUrl":"https://doi.org/10.15406/jpnc.2019.09.00368","url":null,"abstract":"Inborn errors of metabolism are a common cause of inherited disease1 of which lysosomal storage diseases (LSDs) are a significant subgroup.2,3 Although the first clinical descriptions of patients with lysosomal storage disorders (LSDs) were reported at the end of the nineteenth century by Warren Tay,4 Bernard Sachs (1887; Tay-Sachs disease)5, and by PhillipeGaucher (1882; Gaucher disease)6,the biochemical nature of the accumulated products was only elucidated some 50 years later7. Considerably more time was then required for the demonstration by Hers that there was a link between an enzyme deficiency and a storage disorder (Pompe disease).8","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67080699","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}
Pub Date : 2019-01-01DOI: 10.15406/JPNC.2019.09.00381
Farida Ambusaidi
Lymphatic malformations are type of congenital vascular malformations. It is commonly seen in head and neck area.1,2 It can be seen in the abdomen in the liver, spleen, pancreas, mesentery and retroperitoneam. Retroperitoneal location is very rare with cases compromised less than 1% from all abdominal cases.1 Most of the patients are asymptomatic, however minority may present with abdominal distension or pain, intestinal or uretric obstruction or hematuria, cyst infection or hemorrhage.2–4 The cases usually present in the first two years of life and the initial investigation include ultrasound which shows multicystic lesion crossing multiple compartments. Retroperitoneal extension is better assessed by CT scan or MRI studies. There are multiple options to significantly reduce the size of lesion, including aspiration and Sclerotherapy, however both have high recurrence rate.1,5 The radical surgical excision is still by far the treatment of choice with low recurrence rate and less complications.1,4,5
{"title":"Retroperitoneal lymphatic malformation: a case report","authors":"Farida Ambusaidi","doi":"10.15406/JPNC.2019.09.00381","DOIUrl":"https://doi.org/10.15406/JPNC.2019.09.00381","url":null,"abstract":"Lymphatic malformations are type of congenital vascular malformations. It is commonly seen in head and neck area.1,2 It can be seen in the abdomen in the liver, spleen, pancreas, mesentery and retroperitoneam. Retroperitoneal location is very rare with cases compromised less than 1% from all abdominal cases.1 Most of the patients are asymptomatic, however minority may present with abdominal distension or pain, intestinal or uretric obstruction or hematuria, cyst infection or hemorrhage.2–4 The cases usually present in the first two years of life and the initial investigation include ultrasound which shows multicystic lesion crossing multiple compartments. Retroperitoneal extension is better assessed by CT scan or MRI studies. There are multiple options to significantly reduce the size of lesion, including aspiration and Sclerotherapy, however both have high recurrence rate.1,5 The radical surgical excision is still by far the treatment of choice with low recurrence rate and less complications.1,4,5","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67080872","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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