Pub Date : 2023-05-03DOI: 10.15406/jpnc.2023.13.00494
Mary de Assis Carvalho, Juliana Tedesco Dias, Andrea Catherine Quiroz Gamarra, Cristian E Moreno Sandoval, José Hermann Avendaño Caraballo, Nilton Carlos Machado
Purpose: To assess and compares sociodemographic, clinical, anthropometric, and treatment characteristics in two subgroups of children with FC: 1) with onset in the first 12 months old and 2) with onset after 13 months old. Methods: Observational, retrospective cohort study, including consecutive cases of children/adolescents for initial evaluation of constipation. Data were collected in a pre-designed standard protocol, and the parents answered all the questions during the first visit. Inclusion criteria: age between 01 month to 15 years of age, with a diagnosis of FC defined according to the Rome Criteria III and Rome IV criteria. Exclusion criteria: constipation of organic etiology; other chronic health problems such as neurological, genetic, mental/psychiatric disorders or growth and development disorders. The stool form was evaluated according to Bristol Stool Form Scale. Two experienced pediatric gastroenterologists determined the patients' final diagnoses of FC. Approval was obtained from the ethics committee. Results: Five hundred and four children were identified with constipation at their initial visit. Thirty-two were excluded based on the inclusion and exclusion criteria. The remaining 472 children (225 with onset within the first 12 months and 247 after 13 months) were included. There was a long time to first visit in those with onset in the first 12 months of life. There is no difference in BMI/age scores between the two groups. FC onset in the first 12 months has more scybalous stools, painful defecation, bloody stools, a lower proportion with bowel toilet training, and bladder control. In FC starting in the first 12 months of life, only half of the children (55%) were treated with laxatives, and an entire group used rectal treatment. Conclusion: FC is a common Functional Gastrointestinal Disorder affecting infants during the first months of life. The primary inadequate treatment and referral delay implies worsening symptoms, chronicity, and non-implementing North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines.
{"title":"Functional constipation in the first-year-old onset at the first visit to a specialized clinic elicits a delay in referrals, the worst symptoms, and the excessive use of rectal laxatives","authors":"Mary de Assis Carvalho, Juliana Tedesco Dias, Andrea Catherine Quiroz Gamarra, Cristian E Moreno Sandoval, José Hermann Avendaño Caraballo, Nilton Carlos Machado","doi":"10.15406/jpnc.2023.13.00494","DOIUrl":"https://doi.org/10.15406/jpnc.2023.13.00494","url":null,"abstract":"Purpose: To assess and compares sociodemographic, clinical, anthropometric, and treatment characteristics in two subgroups of children with FC: 1) with onset in the first 12 months old and 2) with onset after 13 months old. Methods: Observational, retrospective cohort study, including consecutive cases of children/adolescents for initial evaluation of constipation. Data were collected in a pre-designed standard protocol, and the parents answered all the questions during the first visit. Inclusion criteria: age between 01 month to 15 years of age, with a diagnosis of FC defined according to the Rome Criteria III and Rome IV criteria. Exclusion criteria: constipation of organic etiology; other chronic health problems such as neurological, genetic, mental/psychiatric disorders or growth and development disorders. The stool form was evaluated according to Bristol Stool Form Scale. Two experienced pediatric gastroenterologists determined the patients' final diagnoses of FC. Approval was obtained from the ethics committee. Results: Five hundred and four children were identified with constipation at their initial visit. Thirty-two were excluded based on the inclusion and exclusion criteria. The remaining 472 children (225 with onset within the first 12 months and 247 after 13 months) were included. There was a long time to first visit in those with onset in the first 12 months of life. There is no difference in BMI/age scores between the two groups. FC onset in the first 12 months has more scybalous stools, painful defecation, bloody stools, a lower proportion with bowel toilet training, and bladder control. In FC starting in the first 12 months of life, only half of the children (55%) were treated with laxatives, and an entire group used rectal treatment. Conclusion: FC is a common Functional Gastrointestinal Disorder affecting infants during the first months of life. The primary inadequate treatment and referral delay implies worsening symptoms, chronicity, and non-implementing North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines.","PeriodicalId":388959,"journal":{"name":"Journal of Pediatrics & Neonatal Care","volume":"47 20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132818431","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 : 2023-05-03DOI: 10.15406/jpnc.2023.13.00493
Sierra B Kreft, Alex E. Brown, S. Semenko, Pawe l Ziȩba
Vancomycin, a glycopeptide, is a first-line agent in the neonatal population for the treatment of suspected or confirmed Gram-positive infections, including methicillin-resistant Staphylococcus aureus (MRSA) and coagulase-negative Staphylococci (CoNS).1,2 Vancomycin dosing strategies vary greatly and are generally based on factors such as post-menstrual age (PMA), post-natal age (PNA), and serum creatinine (SCr). Recommended starting doses can range from 10 to 15 mg/kg/dose every 6 to 48 hours, depending upon infection site, suspected organism, desired serum vancomycin trough concentration/area under the curve (AUC), and/or minimal inhibitory concentration (MIC) to vancomycin. Nephrotoxicity in patients receiving vancomycin has been systematically documented in adults and less often in neonates, with a reported occurrence of 1-9% when receiving recommended dosing.1 Risk of toxicity can be minimized through dosage modifications and close monitoring of SCr and urine output at baseline and throughout therapy.2 This case report describes the use of vancomycin, dosed at 10 mg/kg, in a premature infant born at 26 weeks and 4 days gestation for CoNS pneumonia. The infant showed signs of renal dysfunction, prompting a pre-steady state vancomycin serum concentration lab draw, resulting in a concentration of 102.2 µg/mL. Serial repeat vancomycin serum concentrations showed a linear excretion pattern and an ARCHITECT iVancomycin assay completed by medical laboratory scientists confirmed the concentration of the vancomycin aliquot prepared by the inpatient pharmacy department. Renal ultrasound established return to normal renal function; however, the infant failed routine newborn hearing screening upon NICU (neonatal intensive care unit) discharge due to suspected vancomycin-induced ototoxicity.
{"title":"Acute supratherapeutic vancomycin serum concentration in a premature neonate: a case report ","authors":"Sierra B Kreft, Alex E. Brown, S. Semenko, Pawe l Ziȩba","doi":"10.15406/jpnc.2023.13.00493","DOIUrl":"https://doi.org/10.15406/jpnc.2023.13.00493","url":null,"abstract":"Vancomycin, a glycopeptide, is a first-line agent in the neonatal population for the treatment of suspected or confirmed Gram-positive infections, including methicillin-resistant Staphylococcus aureus (MRSA) and coagulase-negative Staphylococci (CoNS).1,2 Vancomycin dosing strategies vary greatly and are generally based on factors such as post-menstrual age (PMA), post-natal age (PNA), and serum creatinine (SCr). Recommended starting doses can range from 10 to 15 mg/kg/dose every 6 to 48 hours, depending upon infection site, suspected organism, desired serum vancomycin trough concentration/area under the curve (AUC), and/or minimal inhibitory concentration (MIC) to vancomycin. Nephrotoxicity in patients receiving vancomycin has been systematically documented in adults and less often in neonates, with a reported occurrence of 1-9% when receiving recommended dosing.1 Risk of toxicity can be minimized through dosage modifications and close monitoring of SCr and urine output at baseline and throughout therapy.2 This case report describes the use of vancomycin, dosed at 10 mg/kg, in a premature infant born at 26 weeks and 4 days gestation for CoNS pneumonia. The infant showed signs of renal dysfunction, prompting a pre-steady state vancomycin serum concentration lab draw, resulting in a concentration of 102.2 µg/mL. Serial repeat vancomycin serum concentrations showed a linear excretion pattern and an ARCHITECT iVancomycin assay completed by medical laboratory scientists confirmed the concentration of the vancomycin aliquot prepared by the inpatient pharmacy department. Renal ultrasound established return to normal renal function; however, the infant failed routine newborn hearing screening upon NICU (neonatal intensive care unit) discharge due to suspected vancomycin-induced ototoxicity.","PeriodicalId":388959,"journal":{"name":"Journal of Pediatrics & Neonatal Care","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130685599","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}
Introduction: The increase in survival rates of preterm newborns, especially newborns of very low birth weight and extreme low birth weight, has brought challenges to clinical practice: promoting adequate nutritional support to this population, to favor future neuropsychomotor growth and development, since the interaction between nutrition, growth, metabolic and genetic phenomena are determinant in subsequent health and quality of life. Objectives: Evaluate the incidence of extrauterine growth restriction (EUGR) in preterm newborns and describe the evolution of anthropometric parameters during hospitalization in the neonatal unit. Methods: Prospective cohort study included patients with birth weight ≤1500g and/or gestational age ≤32 weeks. Data collection of anthropometric parameters at birth and at hospital discharge, as well as data regarding clinical evolution and nutritional support. Descriptive statistics were used; comparisons of non-parametric data were used by the Mann-Whitney test and comparison of data matched by the Wilcoxon test, with a significance level of 5%. Results: The incidence of EUGR was 60.5%. There was a decrease in the Z score of weight (p<0.0001), length (p<0.0001) and head circumference (p<0.0001), comparing birth and hospital discharge. The evolution of weight was similar to that described in the literature and nutritional management showed late onset of parenteral and enteral nutrition. Patients with complications related to prematurity had a greater difference in Z-score of weight between birth and discharge. Conclusion: EUGR has a high incidence in preterm newborns, as a consequence of the impact of preterm birth, complications related to prematurity and nutritional practices implemented.
{"title":"Assessment of nutritional status in preterm newborns admitted to a tertiary neonatal intensive care unit","authors":"Patrícia Fernanda Carrenho Ruiz, Ana Carolina Ferreira Bertonha, Gabriela Bastos Virgilio, Jéssica Ribeiro Paiva, R. Stabenow, Raquel Ângelo Ribeiro Barbosa Imediato","doi":"10.15406/jpnc.2023.13.00491","DOIUrl":"https://doi.org/10.15406/jpnc.2023.13.00491","url":null,"abstract":"Introduction: The increase in survival rates of preterm newborns, especially newborns of very low birth weight and extreme low birth weight, has brought challenges to clinical practice: promoting adequate nutritional support to this population, to favor future neuropsychomotor growth and development, since the interaction between nutrition, growth, metabolic and genetic phenomena are determinant in subsequent health and quality of life. Objectives: Evaluate the incidence of extrauterine growth restriction (EUGR) in preterm newborns and describe the evolution of anthropometric parameters during hospitalization in the neonatal unit. Methods: Prospective cohort study included patients with birth weight ≤1500g and/or gestational age ≤32 weeks. Data collection of anthropometric parameters at birth and at hospital discharge, as well as data regarding clinical evolution and nutritional support. Descriptive statistics were used; comparisons of non-parametric data were used by the Mann-Whitney test and comparison of data matched by the Wilcoxon test, with a significance level of 5%. Results: The incidence of EUGR was 60.5%. There was a decrease in the Z score of weight (p<0.0001), length (p<0.0001) and head circumference (p<0.0001), comparing birth and hospital discharge. The evolution of weight was similar to that described in the literature and nutritional management showed late onset of parenteral and enteral nutrition. Patients with complications related to prematurity had a greater difference in Z-score of weight between birth and discharge. Conclusion: EUGR has a high incidence in preterm newborns, as a consequence of the impact of preterm birth, complications related to prematurity and nutritional practices implemented.","PeriodicalId":388959,"journal":{"name":"Journal of Pediatrics & Neonatal Care","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114268086","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 : 2023-04-11DOI: 10.15406/jpnc.2023.13.00490
Mahmoud Saleh ElHalik, J. Habibullah, Swarup Kumar Dash, Amany Abdelsamed Taha Elsayed
Introduction: Neonatal sepsis is a global burden on the health and wellbeing of the neonates. It mounts too many neonatal mortality and morbidity. However, rational use of antimicrobial therapy and aggressive supportive management has modified the outcome over the past few decades. A good knowledge of locally prevalent microbes and antibiotics sensitivity pattern help in formulating antibiotics regimen. Methodology: This study is a retrospective analysis of prevalent microorganisms isolated from various culture samples collected from neonates aged 0 - 90 days, suspected to have early or late onset neonatal sepsis. All the neonates were admitted to Neonatal intensive care unit (NICU) of Latifa Women and Children Hospital (LWCH) over an 11 year period (from January 2011 till December 2021). Descriptive analyses were used with results presented as proportions. Data were analyzed using Microsoft excel 2016 and online calculators. Results: A total of 4849 microbial culture positive isolates were identified from our NICU. These isolates included samples taken from, blood, cerebrospinal fluid, endotracheal aspirates, throat/nasopharynx, urine, rectal, stool, eyes and superficial cultures. Gram-negative bacteria were isolated in 56.3% (n= 2730). Gram positive bacteria accounted for 43.7% (n=2119) of isolates. Most common isolated bacterial species were Klebsiella pneumoniae (15.7%), Coagulase Negative Staphylococcus (CONS) (14.6%), Stenotrophomonas maltophilia (11.5%) and Pseudomonas aeruginosa (11.1%). Among the multidrug resistant organism (MDRO), Extended spectrum beta lactamase (ESBL) K. pneumoniae (n=208, 4.3%) and Methicillin resistant staphylococcus aureus (MRSA) (n=145, 3%) are the predominant strain. Over the study period, there is a significant reduction in both gram positive and gram negative bacterias (n=1055 in 2011 to 226 in 2021). Discussion/conclusion: The need of the hour is implementation of strict infection control measures and rationalized use of broad-spectrum antibiotics and continuous surveillance of emergence of MDROs. Regular tracking of the microbiological prevalence pattern kept us updated regarding prevailing organisms and emergence of MDROs. Our NICU antimicrobial policy modified in accordance with the surveillance data.
{"title":"Pattern of microbial profile and their susceptibility pattern in a tertiary level neonatal intensive care unit, Dubai, UAE: 11 years surveillance study","authors":"Mahmoud Saleh ElHalik, J. Habibullah, Swarup Kumar Dash, Amany Abdelsamed Taha Elsayed","doi":"10.15406/jpnc.2023.13.00490","DOIUrl":"https://doi.org/10.15406/jpnc.2023.13.00490","url":null,"abstract":"Introduction: Neonatal sepsis is a global burden on the health and wellbeing of the neonates. It mounts too many neonatal mortality and morbidity. However, rational use of antimicrobial therapy and aggressive supportive management has modified the outcome over the past few decades. A good knowledge of locally prevalent microbes and antibiotics sensitivity pattern help in formulating antibiotics regimen. Methodology: This study is a retrospective analysis of prevalent microorganisms isolated from various culture samples collected from neonates aged 0 - 90 days, suspected to have early or late onset neonatal sepsis. All the neonates were admitted to Neonatal intensive care unit (NICU) of Latifa Women and Children Hospital (LWCH) over an 11 year period (from January 2011 till December 2021). Descriptive analyses were used with results presented as proportions. Data were analyzed using Microsoft excel 2016 and online calculators. Results: A total of 4849 microbial culture positive isolates were identified from our NICU. These isolates included samples taken from, blood, cerebrospinal fluid, endotracheal aspirates, throat/nasopharynx, urine, rectal, stool, eyes and superficial cultures. Gram-negative bacteria were isolated in 56.3% (n= 2730). Gram positive bacteria accounted for 43.7% (n=2119) of isolates. Most common isolated bacterial species were Klebsiella pneumoniae (15.7%), Coagulase Negative Staphylococcus (CONS) (14.6%), Stenotrophomonas maltophilia (11.5%) and Pseudomonas aeruginosa (11.1%). Among the multidrug resistant organism (MDRO), Extended spectrum beta lactamase (ESBL) K. pneumoniae (n=208, 4.3%) and Methicillin resistant staphylococcus aureus (MRSA) (n=145, 3%) are the predominant strain. Over the study period, there is a significant reduction in both gram positive and gram negative bacterias (n=1055 in 2011 to 226 in 2021). Discussion/conclusion: The need of the hour is implementation of strict infection control measures and rationalized use of broad-spectrum antibiotics and continuous surveillance of emergence of MDROs. Regular tracking of the microbiological prevalence pattern kept us updated regarding prevailing organisms and emergence of MDROs. Our NICU antimicrobial policy modified in accordance with the surveillance data.","PeriodicalId":388959,"journal":{"name":"Journal of Pediatrics & Neonatal Care","volume":"48 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116530675","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 : 2023-04-04DOI: 10.15406/jpnc.2023.13.00489
Halimic Mirza, Kadic A, Begic Z, Dizdar S, Cepic-Kapic S
Right-side endocarditis is a well-defined clinical entity, rarer than left-side endocarditis. Infective endocarditis in children has multiple challenges. A history of congenital heart disease is the most common risk factor, although other emerging predisposing conditions have important relevance. We report the clinical presentation, diagnosis and management in a pediatric patient with isolated native pulmonary valve endocarditis one year after surgical treatment of Tetralogy Fallot.
{"title":"Case report: right sided endocarditis in pediatric patient after surgical treatment of tetralogy Fallot","authors":"Halimic Mirza, Kadic A, Begic Z, Dizdar S, Cepic-Kapic S","doi":"10.15406/jpnc.2023.13.00489","DOIUrl":"https://doi.org/10.15406/jpnc.2023.13.00489","url":null,"abstract":"Right-side endocarditis is a well-defined clinical entity, rarer than left-side endocarditis. Infective endocarditis in children has multiple challenges. A history of congenital heart disease is the most common risk factor, although other emerging predisposing conditions have important relevance. We report the clinical presentation, diagnosis and management in a pediatric patient with isolated native pulmonary valve endocarditis one year after surgical treatment of Tetralogy Fallot.","PeriodicalId":388959,"journal":{"name":"Journal of Pediatrics & Neonatal Care","volume":"91 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129362980","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 : 2023-03-20DOI: 10.15406/jpnc.2023.13.00488
Luíza Piletti Plucenio, Christy Hannah Sanini Belin, Paula Ruffoni Moreira, Roberta Aguiar Sarmento, Juliana Rombaldi Bernardi
Objective: The objective of this systematic review is to discuss the feeding difficulties (FD) in premature infant (PI), the factors involved, and, when applicable, to compare these FD with full-term infants. Method: Articles were considered eligible in the databases Pubmed, Lilacs, and Scopus, published until March 2020, in Portuguese or English. Results: 11 studies were included. FD mentioned was food selectivity, food refusal, and vomiting. In studies comparing IP with full-term children, PI showed less impulse to eat, a tendency to have less food variety, less appetite, and less pleasure with food. Discussion: It is still inconclusive whether there is a pattern of FD related to prematurity and which may be associated with their involved factors in PI. Therefore, we highlighted the importance of clarifying how to promote healthy feeding, observing families that have PI, as well as the need for further studies that can better elucidate the occurrence of FD in PI.
{"title":"Feeding difficulties in premature children: a systematic review","authors":"Luíza Piletti Plucenio, Christy Hannah Sanini Belin, Paula Ruffoni Moreira, Roberta Aguiar Sarmento, Juliana Rombaldi Bernardi","doi":"10.15406/jpnc.2023.13.00488","DOIUrl":"https://doi.org/10.15406/jpnc.2023.13.00488","url":null,"abstract":"Objective: The objective of this systematic review is to discuss the feeding difficulties (FD) in premature infant (PI), the factors involved, and, when applicable, to compare these FD with full-term infants. Method: Articles were considered eligible in the databases Pubmed, Lilacs, and Scopus, published until March 2020, in Portuguese or English. Results: 11 studies were included. FD mentioned was food selectivity, food refusal, and vomiting. In studies comparing IP with full-term children, PI showed less impulse to eat, a tendency to have less food variety, less appetite, and less pleasure with food. Discussion: It is still inconclusive whether there is a pattern of FD related to prematurity and which may be associated with their involved factors in PI. Therefore, we highlighted the importance of clarifying how to promote healthy feeding, observing families that have PI, as well as the need for further studies that can better elucidate the occurrence of FD in PI.","PeriodicalId":388959,"journal":{"name":"Journal of Pediatrics & Neonatal Care","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130024864","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 : 2023-03-15DOI: 10.15406/jpnc.2023.13.00487
Sebastiana Gamboa, Victoriano dos Anjos, Joaquim Van-Dúnem, Ondina Cardoso
Because Milroy syndrome is a rare disease, it aroused interest among pediatricians at the David Bernardino Pediatric Hospital in Luanda and for this reason we present this clinical case.
{"title":"Milroy syndrome: apropos of a clinical case","authors":"Sebastiana Gamboa, Victoriano dos Anjos, Joaquim Van-Dúnem, Ondina Cardoso","doi":"10.15406/jpnc.2023.13.00487","DOIUrl":"https://doi.org/10.15406/jpnc.2023.13.00487","url":null,"abstract":"Because Milroy syndrome is a rare disease, it aroused interest among pediatricians at the David Bernardino Pediatric Hospital in Luanda and for this reason we present this clinical case.","PeriodicalId":388959,"journal":{"name":"Journal of Pediatrics & Neonatal Care","volume":"36 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123381444","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 : 2023-02-27DOI: 10.15406/jpnc.2023.13.00486
Praveen Jhanwar, A. Kawalkar, Pragya Singh
Leukocyte adhesion deficiency (LAD) Type 1 is a rare inborn error in infants characterized by delayed umbilical cord detachment, non-healing ulcers, and leukocytosis. Initially, knowledge of LAD was limited to the impairment of granulocyte function due to the scarcity of cases. However, as more and more cases are being reported, the knowledge of the bio-physiology of white blood cells, platelets, and various intercellular reactivity and signaling provides a new perception of this disease. We present a 17-day-old female child who presented with complaints of fever and redness in the perianal region and popliteal fossa. Investigations showed leukocytosis in blood and cerebrospinal fluid (CSF), raised C-Reactive Protein (CRP), and Pseudomonas-positive blood and CSF culture. Flow cytometry revealed the absence of CD18, CD11a, and CD11c. Aggressive antimicrobial agents were started; however, the baby died on day 30 of life. In this report, we emphasize the essential investigations needed for early diagnosis and effective precautions through which we can decrease the fatality rate of this rare disorder.
{"title":"A fatal yet salvageable inborn error – leukocyte adhesion deficiency","authors":"Praveen Jhanwar, A. Kawalkar, Pragya Singh","doi":"10.15406/jpnc.2023.13.00486","DOIUrl":"https://doi.org/10.15406/jpnc.2023.13.00486","url":null,"abstract":"Leukocyte adhesion deficiency (LAD) Type 1 is a rare inborn error in infants characterized by delayed umbilical cord detachment, non-healing ulcers, and leukocytosis. Initially, knowledge of LAD was limited to the impairment of granulocyte function due to the scarcity of cases. However, as more and more cases are being reported, the knowledge of the bio-physiology of white blood cells, platelets, and various intercellular reactivity and signaling provides a new perception of this disease. We present a 17-day-old female child who presented with complaints of fever and redness in the perianal region and popliteal fossa. Investigations showed leukocytosis in blood and cerebrospinal fluid (CSF), raised C-Reactive Protein (CRP), and Pseudomonas-positive blood and CSF culture. Flow cytometry revealed the absence of CD18, CD11a, and CD11c. Aggressive antimicrobial agents were started; however, the baby died on day 30 of life. In this report, we emphasize the essential investigations needed for early diagnosis and effective precautions through which we can decrease the fatality rate of this rare disorder.","PeriodicalId":388959,"journal":{"name":"Journal of Pediatrics & Neonatal Care","volume":"16 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130700455","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 : 2023-02-20DOI: 10.15406/jpnc.2023.13.00485
Enas S. Alharbi, Talal Saleh Alzahrani, Manal Mohammed Afqi, Ayman Elhomoudi
We report a rare case of a 14-year-old boy diagnosed with Activated phosphoinositide 3-kinase delta syndrome Type 2 (APDS2). Based on a typical clinical presentation (Delayed teething, Prominent lymphadenopathy and recurrent characteristic infections started early in life and including multiple episodes of bilateral conjunctivitis, an extensive herpes skin infection in addition to recurrent upper sinopulmonary infections) along with suggestive laboratory immunological findings, and positive confirmatory genetic testing. After diagnosis, the patient was commenced on prophylactic antibiotics which resulted in a reduction in the frequency of his infections and hospitalizations. The targeted therapy of mTOR inhibition with Sirolimus and the possibility of hematopoietic stem cells transplantation are considered and discussed with the family, and he is on regular follow-up with the Allergy/Immunology team. APDS is a rare but increasingly reported inborn error of immunity. Gain-of-function and loss-of-function mutations in phosphoinositide 3-kinase (PIK3CD (encoding P 110 δ ) and PIK3R1 (encoding p 85 α , p 55 α , a n d p 50 α )) lead to APDS1 and APDS2, respectively. Our aim in reporting our case is to allow room for more elaboration of the different genotypes and clinical presentations of both types of APDS, in which early and accurate diagnosis will subsequently help in the initiation of outcome-improving therapy.
{"title":"PIK3R1 mutation associated with primary immunodeficiency: a case of a 14-year-old male and review of the literature: case report","authors":"Enas S. Alharbi, Talal Saleh Alzahrani, Manal Mohammed Afqi, Ayman Elhomoudi","doi":"10.15406/jpnc.2023.13.00485","DOIUrl":"https://doi.org/10.15406/jpnc.2023.13.00485","url":null,"abstract":"We report a rare case of a 14-year-old boy diagnosed with Activated phosphoinositide 3-kinase delta syndrome Type 2 (APDS2). Based on a typical clinical presentation (Delayed teething, Prominent lymphadenopathy and recurrent characteristic infections started early in life and including multiple episodes of bilateral conjunctivitis, an extensive herpes skin infection in addition to recurrent upper sinopulmonary infections) along with suggestive laboratory immunological findings, and positive confirmatory genetic testing. After diagnosis, the patient was commenced on prophylactic antibiotics which resulted in a reduction in the frequency of his infections and hospitalizations. The targeted therapy of mTOR inhibition with Sirolimus and the possibility of hematopoietic stem cells transplantation are considered and discussed with the family, and he is on regular follow-up with the Allergy/Immunology team. APDS is a rare but increasingly reported inborn error of immunity. Gain-of-function and loss-of-function mutations in phosphoinositide 3-kinase (PIK3CD (encoding P 110 δ ) and PIK3R1 (encoding p 85 α , p 55 α , a n d p 50 α )) lead to APDS1 and APDS2, respectively. Our aim in reporting our case is to allow room for more elaboration of the different genotypes and clinical presentations of both types of APDS, in which early and accurate diagnosis will subsequently help in the initiation of outcome-improving therapy.","PeriodicalId":388959,"journal":{"name":"Journal of Pediatrics & Neonatal Care","volume":"41 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123545128","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 : 2023-02-06DOI: 10.15406/jpnc.2023.13.00484
Mohamed Lotfy Eldawy, Reda Elsayed Osman, M. Laban, Abdelhadi A Abdelhadi
Background: Arterial catheters are frequently needed to optimize the intensive care in the sick newborn. Umbilical Arterial Catheters (UAC) is more popular than peripheral arterial catheterization. They are utilized to provide continuous accurate arterial blood pressure monitoring, frequent assessment of gas exchange efficiency, frequent blood sampling and rarely for exchange blood transfusion. Umbilical Arterial Catheters may be used in emergencies to infuse fluids or medications in the absence of venous access. Malposition of the Umbilical Arterial Catheter requires immediate attention. The main complication of UAC malposition is obstruction of the arterial lumen of a small caliber branching artery. This may lead to impedance of arterial flow and predisposes to arterial thrombosis and embolism. Case Presentation: We present a rare case of bilateral UAC catheterization where the second umbilical artery was erroneously catheterized instead of the intended umbilical vein. Conclusion: This case reinforces the need for thorough assessment of the position and course of any recently inserted umbilical vascular catheter.
{"title":"A case report of mispositioned bilateral catheterization of the umbilical arteries in a neonate and review of the literature","authors":"Mohamed Lotfy Eldawy, Reda Elsayed Osman, M. Laban, Abdelhadi A Abdelhadi","doi":"10.15406/jpnc.2023.13.00484","DOIUrl":"https://doi.org/10.15406/jpnc.2023.13.00484","url":null,"abstract":"Background: Arterial catheters are frequently needed to optimize the intensive care in the sick newborn. Umbilical Arterial Catheters (UAC) is more popular than peripheral arterial catheterization. They are utilized to provide continuous accurate arterial blood pressure monitoring, frequent assessment of gas exchange efficiency, frequent blood sampling and rarely for exchange blood transfusion. Umbilical Arterial Catheters may be used in emergencies to infuse fluids or medications in the absence of venous access. Malposition of the Umbilical Arterial Catheter requires immediate attention. The main complication of UAC malposition is obstruction of the arterial lumen of a small caliber branching artery. This may lead to impedance of arterial flow and predisposes to arterial thrombosis and embolism. Case Presentation: We present a rare case of bilateral UAC catheterization where the second umbilical artery was erroneously catheterized instead of the intended umbilical vein. Conclusion: This case reinforces the need for thorough assessment of the position and course of any recently inserted umbilical vascular catheter.","PeriodicalId":388959,"journal":{"name":"Journal of Pediatrics & Neonatal Care","volume":"2016 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127471080","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}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：