Pub Date : 2020-02-25DOI: 10.15406/JPNC.2019.09.00374
María Teresa Braña-Ruiz
Introduction: Antiphospholipid syndrome (APS) is an autoimmune, multisystemic disease characterized by the presence of thrombotic events, gestational morbidity, as well as hematological, dermatological and neurological manifestations, in the presence of high titers of antiphospholipid antibodies. It can present as primary, an isolated clinical entity, or secondary, as a manifestation of a rheumatologic disease, primarily systemic lupus erythematosus. 35 years after its first description, the understanding of this pathology is still evolving and even more so in the presentation in children. Objective: To do a demographic description of pediatric population with APS in our hospital, allowing us to establish diagnostic criteria and targeted therapeutic management. It will also allow a prompt diagnosis, avoiding the morbidity and mortality associated with this pathology. Materials and Methods: We performed a descriptive cross-sectional study. We searched in our archives for patients under 16 years of age, evaluated at the Hospital Infantil de Mexico Federico Gomez from March 2000 to March 2018 that met Sapporo criteria for classification of antiphospholipid syndrome. Results: By reviewing the archives, we documented 29 patients were met Sapporo criteria for classification of APS from March 2000 to March 2018 at Hospital Infantil de Mexico Federico Gomez. 52% of the patients were female, while 48% male. The average age of patients was 9.8 years, with a minimum of 2.2 and a maximum of 16 years. The mean age at diagnosis was 14.8 years, with a standard deviation of 4.56 (range from 6.2 to 14.2 years). Of the 29 patients, 48% were diagnosed with primary APS, while 52% with secondary. Systemic Lupus Erythematosus was the primary rheumatologic disease in all the cases of secondary APS. Conclusion: Antiphospholipid syndrome is a complex and not well described pathology in pediatric population. Its variable presentation and unpredictable nature implies a diagnostic and treatment challenge for pediatricians. Epidemiological description of the pediatric population with APS at our hospital is very valuable for the development of diagnostic and therapeutic guidelines. Future reviews, in correlation with reviews from tertiary international rheumatologic centers are needed.
{"title":"Antiphospholipid syndrome in Mexican children: evolution, laboratory and clinical characteristics: a 10-year experience","authors":"María Teresa Braña-Ruiz","doi":"10.15406/JPNC.2019.09.00374","DOIUrl":"https://doi.org/10.15406/JPNC.2019.09.00374","url":null,"abstract":"Introduction: Antiphospholipid syndrome (APS) is an autoimmune, multisystemic disease characterized by the presence of thrombotic events, gestational morbidity, as well as hematological, dermatological and neurological manifestations, in the presence of high titers of antiphospholipid antibodies. It can present as primary, an isolated clinical entity, or secondary, as a manifestation of a rheumatologic disease, primarily systemic lupus erythematosus. 35 years after its first description, the understanding of this pathology is still evolving and even more so in the presentation in children. Objective: To do a demographic description of pediatric population with APS in our hospital, allowing us to establish diagnostic criteria and targeted therapeutic management. It will also allow a prompt diagnosis, avoiding the morbidity and mortality associated with this pathology. Materials and Methods: We performed a descriptive cross-sectional study. We searched in our archives for patients under 16 years of age, evaluated at the Hospital Infantil de Mexico Federico Gomez from March 2000 to March 2018 that met Sapporo criteria for classification of antiphospholipid syndrome. Results: By reviewing the archives, we documented 29 patients were met Sapporo criteria for classification of APS from March 2000 to March 2018 at Hospital Infantil de Mexico Federico Gomez. 52% of the patients were female, while 48% male. The average age of patients was 9.8 years, with a minimum of 2.2 and a maximum of 16 years. The mean age at diagnosis was 14.8 years, with a standard deviation of 4.56 (range from 6.2 to 14.2 years). Of the 29 patients, 48% were diagnosed with primary APS, while 52% with secondary. Systemic Lupus Erythematosus was the primary rheumatologic disease in all the cases of secondary APS. Conclusion: Antiphospholipid syndrome is a complex and not well described pathology in pediatric population. Its variable presentation and unpredictable nature implies a diagnostic and treatment challenge for pediatricians. Epidemiological description of the pediatric population with APS at our hospital is very valuable for the development of diagnostic and therapeutic guidelines. Future reviews, in correlation with reviews from tertiary international rheumatologic centers are needed.","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41933204","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 : 2020-01-04DOI: 10.15344/2455-2364/2020/161
L. Wason-Ellam
Research Methodology: The purpose of this qualitative research was to use ethnography, a naturalistic inquiry (studying interventions for readers and writers in an everyday environment) and by observing and listening to how a child learned. All the children diagnosed with FASD experienced difficulty with integrating components of comprehension during reading and had trouble in writing. (1) Participant observation was used to view these readers and writers who struggled to meet grade level expectations especially in reading as schools participated in differentiating students and questioning their underachievement rather than question how practices can be adapted to meet the learners’ needs. Reading comprehension depends upon field text techniques used for documenting in-school literacy interventions which are diagnostic tools applied during reading, drawing or writing tasks. Having a solid foundation in oral language and a large vocabulary will help children become successful readers and strong communicators as well as build their confidence and overall sense of well-being. Proficient readers have a large vocabulary and a wide-range experience. They are aware of why they are reading a text, as the gain an overview of the text before reading to stimulate prior knowledge, make predictions about the upcoming text, read selectively based on their overview, associate ideas in text to what they already know, note whether their predictions and expectations about text content are being making sense. If not, they revise their prior knowledge when compelling new ideas conflicting with prior knowledge are encountered, figure out the meanings of the text. While less-skilled readers are often bogged down in the reading process and are placed in resource rooms working on a workbook curriculum and misses the social connections that are paramount in the classroom [4]. (2) Field notes were collected from general observations which are the written account of what the researcher sees, hears, experiences, and thinks in the course of collecting and reflecting on reading and writing skills and how the child responds were collected over seven to ten-years. (3) Teacher interviews on the formative progress of their students about reading were conferenced. One of which was word recognition and the other was reading comprehension throughout the reading process and learning about dynamic assessment as a measure using rubrics rather than using grade levels. There is a sizable volume of research on how children learn to read and write on their educational journey. Unfortunately, the development of these skills and assessments that are predecessors to conventional reading and writing abilities for learners are absent for readers with Fetal Alcohol Spectrum Disorder (FASD). Due to the range of effects that can occur in an individual whose mother consumed alcohol during pregnancy children with a diagnosis of FASD often lack the implicit processes and tacit knowledge that underpin
{"title":"Interactive Dynamic Assessment, A Diagnostic Tool For Children with Fetal Alcohol Spectrum Disorder","authors":"L. Wason-Ellam","doi":"10.15344/2455-2364/2020/161","DOIUrl":"https://doi.org/10.15344/2455-2364/2020/161","url":null,"abstract":"Research Methodology: The purpose of this qualitative research was to use ethnography, a naturalistic inquiry (studying interventions for readers and writers in an everyday environment) and by observing and listening to how a child learned. All the children diagnosed with FASD experienced difficulty with integrating components of comprehension during reading and had trouble in writing. (1) Participant observation was used to view these readers and writers who struggled to meet grade level expectations especially in reading as schools participated in differentiating students and questioning their underachievement rather than question how practices can be adapted to meet the learners’ needs. Reading comprehension depends upon field text techniques used for documenting in-school literacy interventions which are diagnostic tools applied during reading, drawing or writing tasks. Having a solid foundation in oral language and a large vocabulary will help children become successful readers and strong communicators as well as build their confidence and overall sense of well-being. Proficient readers have a large vocabulary and a wide-range experience. They are aware of why they are reading a text, as the gain an overview of the text before reading to stimulate prior knowledge, make predictions about the upcoming text, read selectively based on their overview, associate ideas in text to what they already know, note whether their predictions and expectations about text content are being making sense. If not, they revise their prior knowledge when compelling new ideas conflicting with prior knowledge are encountered, figure out the meanings of the text. While less-skilled readers are often bogged down in the reading process and are placed in resource rooms working on a workbook curriculum and misses the social connections that are paramount in the classroom [4]. (2) Field notes were collected from general observations which are the written account of what the researcher sees, hears, experiences, and thinks in the course of collecting and reflecting on reading and writing skills and how the child responds were collected over seven to ten-years. (3) Teacher interviews on the formative progress of their students about reading were conferenced. One of which was word recognition and the other was reading comprehension throughout the reading process and learning about dynamic assessment as a measure using rubrics rather than using grade levels. There is a sizable volume of research on how children learn to read and write on their educational journey. Unfortunately, the development of these skills and assessments that are predecessors to conventional reading and writing abilities for learners are absent for readers with Fetal Alcohol Spectrum Disorder (FASD). Due to the range of effects that can occur in an individual whose mother consumed alcohol during pregnancy children with a diagnosis of FASD often lack the implicit processes and tacit knowledge that underpin","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41535970","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 : 2020-01-01DOI: 10.15406/jpnc.2020.10.00406
M. Khadora
Autoimmune thyroiditis (Hashimoto thyroiditis) is the commonest thyroid disorder in childhood. It is associated with antibodies against thyroglobulin and thyroperoxidase with lymphocytic infiltration in the thyroid tissue. It may be associated with primary hypothyroidism, transient hyperthyroidism or an euthyroid state. It typically affects females-5 times more commonly than males. We aim to describe three rare presentations of a common disease (Hashimoto thyroiditis) in the same child and to discuss its clinical course and response to L-Thyroxin replacement during two years of treatment. We report an eleven years six months old female child, with severe long standing acquired primary hypothyroidism due to Hashimoto thyroiditis, who had, in addition to the typical hypothyroidism symptoms, three rare presentations at the same time including Hashimoto encephalopathy, gonadotropin independent precocious puberty and pituitary adenoma. She was treated with L-Thyroxin only with significant improvement and regression of her symptoms.
{"title":"A child with three rare presentations of a common disease","authors":"M. Khadora","doi":"10.15406/jpnc.2020.10.00406","DOIUrl":"https://doi.org/10.15406/jpnc.2020.10.00406","url":null,"abstract":"Autoimmune thyroiditis (Hashimoto thyroiditis) is the commonest thyroid disorder in childhood. It is associated with antibodies against thyroglobulin and thyroperoxidase with lymphocytic infiltration in the thyroid tissue. It may be associated with primary hypothyroidism, transient hyperthyroidism or an euthyroid state. It typically affects females-5 times more commonly than males. We aim to describe three rare presentations of a common disease (Hashimoto thyroiditis) in the same child and to discuss its clinical course and response to L-Thyroxin replacement during two years of treatment. We report an eleven years six months old female child, with severe long standing acquired primary hypothyroidism due to Hashimoto thyroiditis, who had, in addition to the typical hypothyroidism symptoms, three rare presentations at the same time including Hashimoto encephalopathy, gonadotropin independent precocious puberty and pituitary adenoma. She was treated with L-Thyroxin only with significant improvement and regression of her symptoms.","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67080880","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 : 2020-01-01DOI: 10.36648/2471-805X.6.2.42
Kevin G. Couloures
Introduction: Procedural Pediatric Sedation (PPS) has been increasingly provided by pediatric intensivists over the past decade. Pediatric Critical Care Medicine fellowship guidelines require that fellows become proficient in PPS but do not state how this proficiency should be attained. A national survey confirmed that training in procedural sedation was not standardized. A structured PPS curriculum has been created that ensures fellows receive appropriate didactic, clinical practice and simulation experience to prepare them for PPS credentialing and practice. Methods: 4-week curriculum encompassed structured readings from a variety of clinical references. Fellows observed and then performed PPS under direct attending guidance using the Entrustable Practice principles. Fellows also participated in 1 high-acuity/low-frequency simulation session during their rotation with another 3 sessions scheduled throughout their 2nd and 3rd year of fellowship. Rotation concluded with an exam covering sedation principles that demonstrated knowledge as part of the credentialing process. Results: Implementation of mandatory rotation in PPS resulted in PCCM fellows feeling much more comfortable in performing this procedure. All recent graduates have been credentialed in PPS without additional training (4). Fellows have become involved in PPS research resulting in 2 poster presentations at national conferences, 1 article published in PCCM, 2 textbook chapters and 3 CME webinar presentations. PPS training also resulted in job offers of first choice for all recent graduates. Discussion: Implementation of a standardized curriculum facilitated learning of a new procedural skill by PCCM fellows. Completion of the proctored PPS curriculum provided documentation that allowed fellows to obtain sedation credentials during fellowship and in their future positions.
{"title":"A Need Identified...A Curriculum Created...Improving Procedural SedationTraining","authors":"Kevin G. Couloures","doi":"10.36648/2471-805X.6.2.42","DOIUrl":"https://doi.org/10.36648/2471-805X.6.2.42","url":null,"abstract":"Introduction: Procedural Pediatric Sedation (PPS) has been increasingly provided by pediatric intensivists over the past decade. Pediatric Critical Care Medicine fellowship guidelines require that fellows become proficient in PPS but do not state how this proficiency should be attained. A national survey confirmed that training in procedural sedation was not standardized. A structured PPS curriculum has been created that ensures fellows receive appropriate didactic, clinical practice and simulation experience to prepare them for PPS credentialing and practice. Methods: 4-week curriculum encompassed structured readings from a variety of clinical references. Fellows observed and then performed PPS under direct attending guidance using the Entrustable Practice principles. Fellows also participated in 1 high-acuity/low-frequency simulation session during their rotation with another 3 sessions scheduled throughout their 2nd and 3rd year of fellowship. Rotation concluded with an exam covering sedation principles that demonstrated knowledge as part of the credentialing process. Results: Implementation of mandatory rotation in PPS resulted in PCCM fellows feeling much more comfortable in performing this procedure. All recent graduates have been credentialed in PPS without additional training (4). Fellows have become involved in PPS research resulting in 2 poster presentations at national conferences, 1 article published in PCCM, 2 textbook chapters and 3 CME webinar presentations. PPS training also resulted in job offers of first choice for all recent graduates. Discussion: Implementation of a standardized curriculum facilitated learning of a new procedural skill by PCCM fellows. Completion of the proctored PPS curriculum provided documentation that allowed fellows to obtain sedation credentials during fellowship and in their future positions.","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69703921","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 : 2019-07-29DOI: 10.15406/JPNC.2019.09.00387
K. El-Atawi
Patent ductus arteriosus (PDA) is a common complication in preterm infants, especially in extremely low birth weight (ELBW) infants with an incidence of 80-90%.1 The current body of evidence showed a significant association between PDA and neonatal mortality and morbidities, mainly due the presence of left to right shunt -ductal steal phenomenaand consequent hypoperfusion to vital organs.2,3 However, there is a growing controversy about the role of aggressive therapeutic interventions in the management of PDA, previous reports indicated that 73% of preterm infants with PDA will show spontaneous closure of the duct by the end of first week and that the beneficial role of medical/surgical treatment is questionable.4,5 Thus, it is important to identify and discriminate infants with hemodynamically significant ductus arteriosus (hsPDA). A growing body of evidence has investigated the role of several methods in the identification of hsPDA. Biomarkers, as natriuretic peptides and ischemia-modified albumin, were reported to significantly correlated with early hsPDA and have a good predictive value.6,7 Other reports showed high diagnostic accuracy of clinical scores for the detection of hsPDA infants who needs treatment.8 However, there is no consensus about a grading system for hsPDA; functional echocardiography is considered as gold standard in the early diagnosis of significant PDA and focus on early targeted treatment.9 McNamara & Sehgal,10 proposed a staging system with a comparison between clinical and echocardiographic criteria of hsPDA.
{"title":"Patent ductus arteriosus (PDA) staging and splanchnic circulation in high risk preterm infants","authors":"K. El-Atawi","doi":"10.15406/JPNC.2019.09.00387","DOIUrl":"https://doi.org/10.15406/JPNC.2019.09.00387","url":null,"abstract":"Patent ductus arteriosus (PDA) is a common complication in preterm infants, especially in extremely low birth weight (ELBW) infants with an incidence of 80-90%.1 The current body of evidence showed a significant association between PDA and neonatal mortality and morbidities, mainly due the presence of left to right shunt -ductal steal phenomenaand consequent hypoperfusion to vital organs.2,3 However, there is a growing controversy about the role of aggressive therapeutic interventions in the management of PDA, previous reports indicated that 73% of preterm infants with PDA will show spontaneous closure of the duct by the end of first week and that the beneficial role of medical/surgical treatment is questionable.4,5 Thus, it is important to identify and discriminate infants with hemodynamically significant ductus arteriosus (hsPDA). A growing body of evidence has investigated the role of several methods in the identification of hsPDA. Biomarkers, as natriuretic peptides and ischemia-modified albumin, were reported to significantly correlated with early hsPDA and have a good predictive value.6,7 Other reports showed high diagnostic accuracy of clinical scores for the detection of hsPDA infants who needs treatment.8 However, there is no consensus about a grading system for hsPDA; functional echocardiography is considered as gold standard in the early diagnosis of significant PDA and focus on early targeted treatment.9 McNamara & Sehgal,10 proposed a staging system with a comparison between clinical and echocardiographic criteria of hsPDA.","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43618152","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 : 2019-03-13DOI: 10.15406/JPNC.2019.09.00372
K. El-Atawi, M. Elhalik, T. Kulkarni, A. Abdelsamad, L. Alex, er, A. Satyan, Ahmed Zakareya
The terms metabolic bone disorder(MBD), osteopenia of prematurity, or rickets are used interchangeably to indicate the decrease in bone mineral density status in preterm neonates. Despite, the lack of consensus over the definition of MBD, it is generally accepted that MBD represents a significant decrease in the bone mineral content relative to size or gestational age with associated biochemical and/or radiographic changes.1,2 As a result of different definitions, the reported incidence of MBD varies greatly across the published studies. However, the incidence of MBD is inversely correlated with gestational age and neonatal weight.3 It has been found to occur at a rate of 23% and 60% in neonates whose weight is less than 1500g and 1000g respectively.4,5 This estimation was reported to be even higher in infants who are exclusively breast-fed since 16% and 40 % of formula-fed and breast-fed infants, respectively have been found to experience MBD.6 Regarding the long-term effects of low birth weight and preterm birth, it has been shown that preterm neonates whose birth weight is < 1500 g are more likely to have less bone mineral density at the age of 7years than their peers.7 This was confirmed by another study which indicated that Dual-energy X-ray absorptiometry (DEXA) scan that was performed at around the age of 7years on children who were born at 40weeks of gestation, denoted more bone mass than those who were preterm.8
{"title":"Metabolic bone disease in preterm babies: are we underestimating it?”","authors":"K. El-Atawi, M. Elhalik, T. Kulkarni, A. Abdelsamad, L. Alex, er, A. Satyan, Ahmed Zakareya","doi":"10.15406/JPNC.2019.09.00372","DOIUrl":"https://doi.org/10.15406/JPNC.2019.09.00372","url":null,"abstract":"The terms metabolic bone disorder(MBD), osteopenia of prematurity, or rickets are used interchangeably to indicate the decrease in bone mineral density status in preterm neonates. Despite, the lack of consensus over the definition of MBD, it is generally accepted that MBD represents a significant decrease in the bone mineral content relative to size or gestational age with associated biochemical and/or radiographic changes.1,2 As a result of different definitions, the reported incidence of MBD varies greatly across the published studies. However, the incidence of MBD is inversely correlated with gestational age and neonatal weight.3 It has been found to occur at a rate of 23% and 60% in neonates whose weight is less than 1500g and 1000g respectively.4,5 This estimation was reported to be even higher in infants who are exclusively breast-fed since 16% and 40 % of formula-fed and breast-fed infants, respectively have been found to experience MBD.6 Regarding the long-term effects of low birth weight and preterm birth, it has been shown that preterm neonates whose birth weight is < 1500 g are more likely to have less bone mineral density at the age of 7years than their peers.7 This was confirmed by another study which indicated that Dual-energy X-ray absorptiometry (DEXA) scan that was performed at around the age of 7years on children who were born at 40weeks of gestation, denoted more bone mass than those who were preterm.8","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45764118","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 : 2019-02-04DOI: 10.15406/JPNC.2019.09.00367
K. El-Atawi, M. Mustafa, A. Zakaria, M. Elhalik, F. Bastaki
While the early onset of NDM in the first six months of life rarely occurs as a result of autoimmune disorder, genetic mutations and chromosomal abnormalities are recognizable causes of NDM.17 Mutations in KCNJ11 or ABCC8 gene, that encode for subunits of the ATP sensitive potassium channel, are the most commonly encountered mutations in permanent NDM.8 Previous reports showed thet permanent NDM may result from mutations in insulin or glucokinase (GCK) genes as well.9,10 Homozygous GCK-related permanent NDM is associated with complete GCK deficiency and severe hyperglycemia.11,12
{"title":"Neonate with permanent neonatal diabetes mellitus; a very rare homozygous missense mutation in the glucokinase gene","authors":"K. El-Atawi, M. Mustafa, A. Zakaria, M. Elhalik, F. Bastaki","doi":"10.15406/JPNC.2019.09.00367","DOIUrl":"https://doi.org/10.15406/JPNC.2019.09.00367","url":null,"abstract":"While the early onset of NDM in the first six months of life rarely occurs as a result of autoimmune disorder, genetic mutations and chromosomal abnormalities are recognizable causes of NDM.17 Mutations in KCNJ11 or ABCC8 gene, that encode for subunits of the ATP sensitive potassium channel, are the most commonly encountered mutations in permanent NDM.8 Previous reports showed thet permanent NDM may result from mutations in insulin or glucokinase (GCK) genes as well.9,10 Homozygous GCK-related permanent NDM is associated with complete GCK deficiency and severe hyperglycemia.11,12","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47311710","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 : 2019-01-03DOI: 10.15406/JPNC.2019.09.00366
K. El-Atawi, M. Elhalik, S. Dash
Neonatal morbidity and mortality are recognized as a global public health challenge in developing countries, with the highest rate of mortality found in the poorest countries.1 The first four weeks of an infant’s life is their most vulnerable period, during which they are prone to significant morbidity and mortality. The NICU did not exist until the early 1960s, and the specialty of neonatology did not begin until the 1970s. These special units were established soon after the death of President John F. Kennedy’s newborn son, who died of respiratory distress and immature lungs. He was born prematurely after just thirty-four weeks of gestation. His death brought increased awareness in the United States to the numbers of preterm infants who were dying because of immature lung development shortly after their births. Knowledge and expert care of these infants increased, and by the early 1990s, more than 90 percent of these premature infants were surviving, including those infants born as early after just twenty-four weeks of gestation. Exposure of neonates to infections, birth asphyxia, and birth before term are considered as the most common causes of neonatal deaths. However, these common causes of the neonatal mortality in the neonatal intensive care units are mostly preventable.2
{"title":"\"Quality improvement initiatives in neonatal intensive care unit (NICU) for improved care outcomes- a review of evidence\"","authors":"K. El-Atawi, M. Elhalik, S. Dash","doi":"10.15406/JPNC.2019.09.00366","DOIUrl":"https://doi.org/10.15406/JPNC.2019.09.00366","url":null,"abstract":"Neonatal morbidity and mortality are recognized as a global public health challenge in developing countries, with the highest rate of mortality found in the poorest countries.1 The first four weeks of an infant’s life is their most vulnerable period, during which they are prone to significant morbidity and mortality. The NICU did not exist until the early 1960s, and the specialty of neonatology did not begin until the 1970s. These special units were established soon after the death of President John F. Kennedy’s newborn son, who died of respiratory distress and immature lungs. He was born prematurely after just thirty-four weeks of gestation. His death brought increased awareness in the United States to the numbers of preterm infants who were dying because of immature lung development shortly after their births. Knowledge and expert care of these infants increased, and by the early 1990s, more than 90 percent of these premature infants were surviving, including those infants born as early after just twenty-four weeks of gestation. Exposure of neonates to infections, birth asphyxia, and birth before term are considered as the most common causes of neonatal deaths. However, these common causes of the neonatal mortality in the neonatal intensive care units are mostly preventable.2","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43011934","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.2019.09.00371
M. Acosta
Human Granulocytic Anaplasmosis (HGA) (previously known as Human Granulocytic Ehrlichiosis, or HGE) is an infectious disease caused by Anaplasma phagocytophilum (previously Rickettsia phagocytophilum in the 1950s, then Ehrlichia phagocytophilum until 2001), a gram-negative obligate intracellular bacteria that is typically transmitted to humans by at least three kinds of ticks, including Ixodes scapularis, Ixodes pacificus, and Dermacentor variabilis, which also transmit Lyme Disease.1 Cases reported to the Centers for Disease Control and Prevention (CDC) have increased steadily since it became a notifiable disease in 2000. The disease is curable if treatment is administered timely, and doxycycline is the number one choice of treatment even in pediatric patients.2
{"title":"Human granulocytic Anaplasmosis: a case report in Mexico","authors":"M. Acosta","doi":"10.15406/jpnc.2019.09.00371","DOIUrl":"https://doi.org/10.15406/jpnc.2019.09.00371","url":null,"abstract":"Human Granulocytic Anaplasmosis (HGA) (previously known as Human Granulocytic Ehrlichiosis, or HGE) is an infectious disease caused by Anaplasma phagocytophilum (previously Rickettsia phagocytophilum in the 1950s, then Ehrlichia phagocytophilum until 2001), a gram-negative obligate intracellular bacteria that is typically transmitted to humans by at least three kinds of ticks, including Ixodes scapularis, Ixodes pacificus, and Dermacentor variabilis, which also transmit Lyme Disease.1 Cases reported to the Centers for Disease Control and Prevention (CDC) have increased steadily since it became a notifiable disease in 2000. The disease is curable if treatment is administered timely, and doxycycline is the number one choice of treatment even in pediatric patients.2","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67080752","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.2019.09.00370
S. Rainey
Intussusception is the most common bowel emergency and most common cause of intestinal obstruction in early childhood. It is caused by an invagination of a proximal intestinal segment into its distal counterpart, most commonly at the ileocecal junction. While commonly thought to be associated with a pathological lead point, the majority of cases are idiopathic, and a lead point is only identified in approximately 25 percent of pediatric cases.1 We present a case of an undiagnosed intussusception secondary to a necrotic Meckel’s diverticulum masquerading as viral gastroenteritis in a 6-month-old infant. He failed air enema reduction and required open laparotomy and 15 cm of bowel resection for correction. Clinicians should be mindful of intussusception when developing their differential diagnosis for the child with vomiting and abdominal pain.
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