Pub Date : 2019-04-03DOI: 10.4172/2572-4983-c1-012
A. D. Dhital, M. Pokharel, M. Shrestha
{"title":"Practice and problems associated with menstrual hygiene among homemaker women of reproductive age residing in a selected ward of Dharan, Sunsari, Nepal","authors":"A. D. Dhital, M. Pokharel, M. Shrestha","doi":"10.4172/2572-4983-c1-012","DOIUrl":"https://doi.org/10.4172/2572-4983-c1-012","url":null,"abstract":"","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":"22 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2019-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81669717","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}
Several herpesviruses can cause hepatic injury, but herpes simplex virus (HSV) is rarely involved in immune-competent patients, beyond the neonatal age. We report a rare case of acute hepatitis associated with primary HSV infection in a previously healthy child. Therefore, HSV infection should be actively investigated in healthy children developing acute hepatitis without acute liver failure, if the most common infectious agents have been excluded, despite the absence of the typical vesicular herpetic skin and/or mucosal manifestations.
{"title":"Acute hepatitis as a manifestation of primary HSV infection in a healthy child","authors":"E. Comi, P. Bruni, D. Poddighe","doi":"10.7363/080123","DOIUrl":"https://doi.org/10.7363/080123","url":null,"abstract":"Several herpesviruses can cause hepatic injury, but herpes simplex virus (HSV) is rarely involved in immune-competent patients, beyond the neonatal age. We report a rare case of acute hepatitis associated with primary HSV infection in a previously healthy child. Therefore, HSV infection should be actively investigated in healthy children developing acute hepatitis without acute liver failure, if the most common infectious agents have been excluded, despite the absence of the typical vesicular herpetic skin and/or mucosal manifestations.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2019-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46254930","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: 10.4172/2573-4571-c5-025
M. Parkin
This study was conducted to determine the effects of sound vibration on individuals with depression. The study also examined changes to the blood cells as observed through live blood analysis when the intervention of vibratory frequencies ranged from 64Hz to 600Hz. Variables consisted of a time frame of one hour of control group (n=17) listening to music from the position of a chair in a contained room, and experimental group (n=27) positioned on a sound vibrational treatment table. The random study was conducted on 7 males and 37 females with a minimal six-month diagnosis of depression. Measurement was accomplished through evaluation of live blood analysis level of aggregation and Profile of Mood States questionnaire for depression. A drop of blood from a finger puncture was obtained and examined through Darkfield microscopy for specific quality and level of visible clumping. Marilyn Parkin International College of Medical Intuition Inc, Canada Bio-Physical tendencies with applied methods of mind/body/soul techniques sound frequencies and including the art of intuition Post blood analysis determined less clumping and healthier activity of the cells after intervention in the experimental group. The live blood analysis of the control group remained unchanged. Profile of Mood States for Depression indicated there was no significant difference between the experimental and control groups. Results indicated an increase in mood state from the use of music and blood aggregation was reduced only with the sound vibrational treatment table.
{"title":"Bio-physical tendencies with applied methods of mind/body/soul techniques sound frequencies","authors":"M. Parkin","doi":"10.4172/2573-4571-c5-025","DOIUrl":"https://doi.org/10.4172/2573-4571-c5-025","url":null,"abstract":"This study was conducted to determine the effects of sound vibration on individuals with depression. The study also examined changes to the blood cells as observed through live blood analysis when the intervention of vibratory frequencies ranged from 64Hz to 600Hz. Variables consisted of a time frame of one hour of control group (n=17) listening to music from the position of a chair in a contained room, and experimental group (n=27) positioned on a sound vibrational treatment table. The random study was conducted on 7 males and 37 females with a minimal six-month diagnosis of depression. Measurement was accomplished through evaluation of live blood analysis level of aggregation and Profile of Mood States questionnaire for depression. A drop of blood from a finger puncture was obtained and examined through Darkfield microscopy for specific quality and level of visible clumping. Marilyn Parkin International College of Medical Intuition Inc, Canada Bio-Physical tendencies with applied methods of mind/body/soul techniques sound frequencies and including the art of intuition Post blood analysis determined less clumping and healthier activity of the cells after intervention in the experimental group. The live blood analysis of the control group remained unchanged. Profile of Mood States for Depression indicated there was no significant difference between the experimental and control groups. Results indicated an increase in mood state from the use of music and blood aggregation was reduced only with the sound vibrational treatment table.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":"17 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73293365","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}
F. Hagenbeek, J. Dongen, C. Kluft, T. Hankemeier, L. Ligthart, G. Willemsen, E. D. Geus, J. Vink, M. Bartels, D. Boomsma
Aggression shows large variation between individuals, with about 50% explained by genetic factors. Biomarkers related to aggression have been reported for lipid metabolism and for epigenetic marks. Methylation and blood lipid levels are not independent and differential methylation can be a consequence of variation in blood lipid levels. We hypothesized that the methylation level of such loci in blood can inform us if aggression is associated with long-term exposure to lipid levels. If this is the case, we expect to find that loci where methylation levels are influenced by lipid levels to show differential methylation in aggressive individuals. Such loci might complement classic lipid level measures as a biomarker for lipid-related disturbances in aggression. As a first step, we examined the association of lipid levels and related biomarkers with aggression in a large adult population cohort (N = 5,588) and in 31 monozygotic (MZ) twin pairs who were discordant for aggression, as well as 12 extremely discordant MZ pairs. Biomarkers were not significantly associated with aggression in the population cohort. In the discordant MZ pairs we identified significant within-pair differences for glucose and marginally significant differences for lipids and cytokines, with the more aggressive twin showing lower levels of glucose and low density lipoprotein cholesterol and higher levels of fibrinogen, C-reactive protein and interleukin-6. The analysis of epigenetic data in the MZ pairs discordant for aggression did not show enrichment for lipid cytosine guanine dinucleotides (CpGs) and we observed no enrichment of lipid CpGs in an epigenome-wide association study of aggression in the population cohort. These results did not support the hypothesis that lipid CpGs show differential methylation in adult aggression. A next step will be to examine the role of biomarkers in aggression across the lifespan, including childhood, and to explore a more holistic biomarker approach, such as offered by metabolomics.
{"title":"Adult aggressive behavior in humans and biomarkers: a focus on lipids and methylation","authors":"F. Hagenbeek, J. Dongen, C. Kluft, T. Hankemeier, L. Ligthart, G. Willemsen, E. D. Geus, J. Vink, M. Bartels, D. Boomsma","doi":"10.7363/070204","DOIUrl":"https://doi.org/10.7363/070204","url":null,"abstract":"Aggression shows large variation between individuals, with about 50% explained by genetic factors. Biomarkers related to aggression have been reported for lipid metabolism and for epigenetic marks. Methylation and blood lipid levels are not independent and differential methylation can be a consequence of variation in blood lipid levels. We hypothesized that the methylation level of such loci in blood can inform us if aggression is associated with long-term exposure to lipid levels. If this is the case, we expect to find that loci where methylation levels are influenced by lipid levels to show differential methylation in aggressive individuals. Such loci might complement classic lipid level measures as a biomarker for lipid-related disturbances in aggression. As a first step, we examined the association of lipid levels and related biomarkers with aggression in a large adult population cohort (N = 5,588) and in 31 monozygotic (MZ) twin pairs who were discordant for aggression, as well as 12 extremely discordant MZ pairs. Biomarkers were not significantly associated with aggression in the population cohort. In the discordant MZ pairs we identified significant within-pair differences for glucose and marginally significant differences for lipids and cytokines, with the more aggressive twin showing lower levels of glucose and low density lipoprotein cholesterol and higher levels of fibrinogen, C-reactive protein and interleukin-6. The analysis of epigenetic data in the MZ pairs discordant for aggression did not show enrichment for lipid cytosine guanine dinucleotides (CpGs) and we observed no enrichment of lipid CpGs in an epigenome-wide association study of aggression in the population cohort. These results did not support the hypothesis that lipid CpGs show differential methylation in adult aggression. A next step will be to examine the role of biomarkers in aggression across the lifespan, including childhood, and to explore a more holistic biomarker approach, such as offered by metabolomics.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":"7 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2018-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48216120","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}
M. Rodrigues, Miguel Costa, J. Teixeira, C. Sá, Liliana Pinheiro, Eduarda Abreu, Albina Silva, Nicole Silva, Matos Marques, M. Rocha, A. Pereira
The “floppy infant” is a well-recognized entity characterized by generalized hypotonia presenting at birth or in early life. Hypotonia represents a diagnostic challenge because it may be the presentation sign of numerous diseases, as central or peripheral nervous system abnormalities, myopathies, genetic disorders, endocrinopathies, metabolic diseases and acute/chronic illness. Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder that results from an abnormality in chromosome 15. Diagnosis is often delayed because clinical findings are relatively nonspecific and the dysmorphism is often subtle. We describe three term male newborns admitted in the first day of life for hypotonia and feeding difficulties. Pregnancy and familiar history were unremarkable. Clinical examination revealed marked global hypotonia, few active movements, weak cry, poor suck reflex, micrognathia, cryptorchidism, facial dysmorphic features: almond-shaped eyes with short palpebral fissures, narrow bifrontal diameter and short neck. Laboratory evaluations were normal. Brain ultrasound and magnetic resonance had no alterations. Cardiac and metabolic evaluations were irrelevant. PWS was suspected and genetic evaluation was performed. The methylation analysis specific for PWS confirmed the diagnosis. In the three cases it was observed development milestones delay, with progressive improvement after multidisciplinary approach. At last follow-up visit, all of them walk alone, explore the surrounding environment, understand simple language and say some words. These reports reinforce the idea that PWS should be considered in the presence of newborn hypotonia, and feeding difficulties, even in absence of typical facial features. Detecting PWS at neonatal age is important because it allows early intervention and better management of such infants.
{"title":"Prader-Willi Syndrome: an under-recognized cause of hypotonia?","authors":"M. Rodrigues, Miguel Costa, J. Teixeira, C. Sá, Liliana Pinheiro, Eduarda Abreu, Albina Silva, Nicole Silva, Matos Marques, M. Rocha, A. Pereira","doi":"10.7363/070107","DOIUrl":"https://doi.org/10.7363/070107","url":null,"abstract":"The “floppy infant” is a well-recognized entity characterized by generalized hypotonia presenting at birth or in early life. Hypotonia represents a diagnostic challenge because it may be the presentation sign of numerous diseases, as central or peripheral nervous system abnormalities, myopathies, genetic disorders, endocrinopathies, metabolic diseases and acute/chronic illness. Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder that results from an abnormality in chromosome 15. Diagnosis is often delayed because clinical findings are relatively nonspecific and the dysmorphism is often subtle. We describe three term male newborns admitted in the first day of life for hypotonia and feeding difficulties. Pregnancy and familiar history were unremarkable. Clinical examination revealed marked global hypotonia, few active movements, weak cry, poor suck reflex, micrognathia, cryptorchidism, facial dysmorphic features: almond-shaped eyes with short palpebral fissures, narrow bifrontal diameter and short neck. Laboratory evaluations were normal. Brain ultrasound and magnetic resonance had no alterations. Cardiac and metabolic evaluations were irrelevant. PWS was suspected and genetic evaluation was performed. The methylation analysis specific for PWS confirmed the diagnosis. In the three cases it was observed development milestones delay, with progressive improvement after multidisciplinary approach. At last follow-up visit, all of them walk alone, explore the surrounding environment, understand simple language and say some words. These reports reinforce the idea that PWS should be considered in the presence of newborn hypotonia, and feeding difficulties, even in absence of typical facial features. Detecting PWS at neonatal age is important because it allows early intervention and better management of such infants.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2017-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46122058","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}
D. Poddighe, L. Castelli, E. Comi, I. Brambilla, P. Bruni
Dehydration with multiple salt abnormalities is frequently encountered in the paediatric emergency department, during acute illnesses complicated by loss of body fluids. Metabolic alkalosis is not a common finding in dehydrated children. The presence of unusual electrolyte unbalance, such as metabolic alkalosis, hyponatremia, hypochloremia and hypokalemia, without evidence of renal tubular defects, is named as pseudo-Bartter syndrome. It can occur in several clinical settings and, in infancy, it is described as a potential complication of cystic fibrosis. We report a case of pseudo-Bartter syndrome representing the onset of cystic fibrosis in childhood.
{"title":"Metabolic alkalosis with multiple salt unbalance: an atypical onset of cystic fibrosis in a child","authors":"D. Poddighe, L. Castelli, E. Comi, I. Brambilla, P. Bruni","doi":"10.7363/070105","DOIUrl":"https://doi.org/10.7363/070105","url":null,"abstract":"Dehydration with multiple salt abnormalities is frequently encountered in the paediatric emergency department, during acute illnesses complicated by loss of body fluids. Metabolic alkalosis is not a common finding in dehydrated children. The presence of unusual electrolyte unbalance, such as metabolic alkalosis, hyponatremia, hypochloremia and hypokalemia, without evidence of renal tubular defects, is named as pseudo-Bartter syndrome. It can occur in several clinical settings and, in infancy, it is described as a potential complication of cystic fibrosis. We report a case of pseudo-Bartter syndrome representing the onset of cystic fibrosis in childhood.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":"7 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2017-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46009432","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}
Huntington disease (HD) is a progressive neurodegenerative disorder, characterized by autosomal dominant inheritance, movement disorder, dementia, and behavioural disturbances. It is caused by a mutation in IT15 gene on chromosome 4p16.3, which leads to unstable CAG trinucleotide repeat expansion. The onset of juvenile HD occurs before the 2 nd decade of life and comprises approximately 10% of total HD patients. Juvenile HD differs in symptomatology and is usually transmitted from paternal side with genetic anticipation phenomenon. Magnetic resonance imaging (MRI) of the brain shows specific changes of early affection of caudate nucleus and putamen. Multidisciplinary approach with symptomatic treatment of specific symptoms is the current available management. Gene editing and gene silencing treatment are under trial. Hereby, we introduce a case of an 8-year-old boy, who presented with typical symptoms of juvenile HD, positive family history with genetic anticipation phenomenon and characteristic MRI findings.
{"title":"A case report of juvenile Huntington disease","authors":"A. Choudhary, Priyanka Minocha, S. Sitaraman","doi":"10.7363/060217","DOIUrl":"https://doi.org/10.7363/060217","url":null,"abstract":"Huntington disease (HD) is a progressive neurodegenerative disorder, characterized by autosomal dominant inheritance, movement disorder, dementia, and behavioural disturbances. It is caused by a mutation in IT15 gene on chromosome 4p16.3, which leads to unstable CAG trinucleotide repeat expansion. The onset of juvenile HD occurs before the 2 nd decade of life and comprises approximately 10% of total HD patients. Juvenile HD differs in symptomatology and is usually transmitted from paternal side with genetic anticipation phenomenon. Magnetic resonance imaging (MRI) of the brain shows specific changes of early affection of caudate nucleus and putamen. Multidisciplinary approach with symptomatic treatment of specific symptoms is the current available management. Gene editing and gene silencing treatment are under trial. Hereby, we introduce a case of an 8-year-old boy, who presented with typical symptoms of juvenile HD, positive family history with genetic anticipation phenomenon and characteristic MRI findings.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2017-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48231126","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}
Georgios Kouvelas, P. Bassareo, V. Pisano, L. Demelia, A. Nurchi, G. Mercuro
Introduction: Wilson’s disease (WD) is a genetically inherited pathology which leads to an excessive deposition of copper in the human tissues, most of all in those of liver and brain. Even the cardiovascular system may be involved, although heart and vessels in those suffering from WD were fleetingly studied. This research aimed at evaluating the autonomic control of blood pressure (BP) and the endothelial function in a sample of young WD subjects. Methods: Eleven WD individuals were recruited in the study (54% females; mean age and age at diagnosis: 16.3 ± 5.0 and 8.3 ± 4.0 years, respectively). BP was measured at the right arm (supine and upright after 3 minutes of standing) and ankle-brachial index (ABI) was evaluated as well. WD findings were compared with those of healthy peers (controls). Results: In those with WD, systolic BP in the upright position raised when compared to the value in the supine position (128 ± 2 vs 112 ± 3 mmHg, p < 0.002), while declined in the controls. ABI was significantly lower in WD group (0.9 ± 0.2 vs 1.1 ± 0.1 in the control group, p < 0.05) and an inverse correlation was found between the disease duration and ABI as well (r = -0.66, p < 0.03). Conclusions: These preliminary results suggest an early vascular deterioration in WD patients, notwithstanding their very young age and concomitant copper-chelating treatment. Although the heart and vessels are not the main target of WD, the detection of this unique population, potentially predisposed to cardiovascular accidents, suggests to enhance strategies of primary prevention.
威尔逊氏病(WD)是一种遗传性病理，导致铜在人体组织中过量沉积，主要是在肝脏和大脑中。即使心血管系统也可能参与其中，尽管对患有WD的人的心脏和血管进行了短暂的研究。本研究旨在评估年轻WD受试者血压(BP)和内皮功能的自主控制。方法:共招募11例WD患者(女性占54%;平均年龄:16.3±5.0岁，平均诊断年龄:8.3±4.0岁。测量右臂(仰卧和站立3分钟后直立)血压，并评估踝肱指数(ABI)。将WD结果与健康同龄人(对照组)进行比较。结果:与仰卧位相比，WD患者直立位收缩压升高(128±2 vs 112±3 mmHg, p < 0.002)，而对照组收缩压下降。WD组ABI明显低于对照组(0.9±0.2 vs 1.1±0.1,p < 0.05)，病程与ABI呈负相关(r = -0.66, p < 0.03)。结论:这些初步结果表明，尽管WD患者年龄很小且同时接受铜螯合治疗，但其早期血管恶化。虽然心脏和血管不是WD的主要目标，但检测到这一独特的人群，可能易患心血管事故，建议加强一级预防策略。
{"title":"Premature vascular deterioration in young patients affected by Wilson’s disease: a pilot study","authors":"Georgios Kouvelas, P. Bassareo, V. Pisano, L. Demelia, A. Nurchi, G. Mercuro","doi":"10.7363/060201","DOIUrl":"https://doi.org/10.7363/060201","url":null,"abstract":"Introduction: Wilson’s disease (WD) is a genetically inherited pathology which leads to an excessive deposition of copper in the human tissues, most of all in those of liver and brain. Even the cardiovascular system may be involved, although heart and vessels in those suffering from WD were fleetingly studied. This research aimed at evaluating the autonomic control of blood pressure (BP) and the endothelial function in a sample of young WD subjects. Methods: Eleven WD individuals were recruited in the study (54% females; mean age and age at diagnosis: 16.3 ± 5.0 and 8.3 ± 4.0 years, respectively). BP was measured at the right arm (supine and upright after 3 minutes of standing) and ankle-brachial index (ABI) was evaluated as well. WD findings were compared with those of healthy peers (controls). Results: In those with WD, systolic BP in the upright position raised when compared to the value in the supine position (128 ± 2 vs 112 ± 3 mmHg, p < 0.002), while declined in the controls. ABI was significantly lower in WD group (0.9 ± 0.2 vs 1.1 ± 0.1 in the control group, p < 0.05) and an inverse correlation was found between the disease duration and ABI as well (r = -0.66, p < 0.03). Conclusions: These preliminary results suggest an early vascular deterioration in WD patients, notwithstanding their very young age and concomitant copper-chelating treatment. Although the heart and vessels are not the main target of WD, the detection of this unique population, potentially predisposed to cardiovascular accidents, suggests to enhance strategies of primary prevention.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2017-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42890593","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: Increase in blood pressure, probably due to an impairment in arterial elasticity, is frequent in patients affected by Anderson-Fabry disease (FD). The purpose of this study was to evaluate arterial distensibility in a group of children or adolescent with FD before and after enzyme replacement therapy and compare after enzyme replacement therapy findings with those of healthy controls (C). Material and methods: Sixteen FD patients were recruited (87.5% male; mean age at diagnosis: 13.5 ± 1.5 years; mean age at study: 15.7 ± 2.1 years; mean treatment length: 2.2 ± 0.6 years). Arterial distensibility was evaluated by means of the previously validated non-invasive QKd 100-60 method, coupled with a 24-h ambulatory blood pressure monitoring (ABPM). Results: FD subjects before therapy vs after therapy – systolic ABPM: p < 0.05; diastolic ABPM: p < 0.05; mean ABPM: p < 0.05; QKd 100-60 : p < 0.009. FD subjects after therapy vs C – systolic ABPM: p < 0.01; diastolic ABPM: p < 0.03; mean ABPM: p < 0.02; QKd 100-60 : p < 0.04. Conclusions: Impaired arterial distensibility in paediatric FD patients implies an early vascular involvement even in these still so young subjects. Enzyme replacement therapy resulted in a significant improvement in arterial elasticity when compared with before treatment findings, but was not able to normalize it. It may explain the differences in ABPM levels.
{"title":"Enzyme replacement therapy in paediatric patients affected by Anderson-Fabry disease leads to improvement in arterial elasticity, but not normalization","authors":"P. Bassareo, C. Barbanti, A. Marras, G. Mercuro","doi":"10.7363/060211","DOIUrl":"https://doi.org/10.7363/060211","url":null,"abstract":"Introduction: Increase in blood pressure, probably due to an impairment in arterial elasticity, is frequent in patients affected by Anderson-Fabry disease (FD). The purpose of this study was to evaluate arterial distensibility in a group of children or adolescent with FD before and after enzyme replacement therapy and compare after enzyme replacement therapy findings with those of healthy controls (C). Material and methods: Sixteen FD patients were recruited (87.5% male; mean age at diagnosis: 13.5 ± 1.5 years; mean age at study: 15.7 ± 2.1 years; mean treatment length: 2.2 ± 0.6 years). Arterial distensibility was evaluated by means of the previously validated non-invasive QKd 100-60 method, coupled with a 24-h ambulatory blood pressure monitoring (ABPM). Results: FD subjects before therapy vs after therapy – systolic ABPM: p < 0.05; diastolic ABPM: p < 0.05; mean ABPM: p < 0.05; QKd 100-60 : p < 0.009. FD subjects after therapy vs C – systolic ABPM: p < 0.01; diastolic ABPM: p < 0.03; mean ABPM: p < 0.02; QKd 100-60 : p < 0.04. Conclusions: Impaired arterial distensibility in paediatric FD patients implies an early vascular involvement even in these still so young subjects. Enzyme replacement therapy resulted in a significant improvement in arterial elasticity when compared with before treatment findings, but was not able to normalize it. It may explain the differences in ABPM levels.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2017-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43328923","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}
F. Carta, R. Caria, C. Gerosa, S. Sionis, M. Puddu, G. Ottonello, R. Puxeddu
Neonatal respiratory distress is a potentially life-threatening condition, representing a diagnostic and therapeutic challenge for physicians, especially when it is caused by rare pathologies. Head and neck remnants are benign congenital neoplasms rarely observed in newborns. Teratoma is the most common congenital tumor in childhood, while head and neck epithelial and mesenchymal hamartomas are uncommon. We report three cases of pharyngeal congenital remnants presenting with neonatal airway obstruction. We observed a 9-month-old, 35-day-old, and 15-hour-old patients, who have been referred to our Department of Otorhinolaryngology with acute airway distress. All the patients showed a pharyngeal benign lesion, since teratomas originated from the left lateral wall of the pharynx in two cases and one “fibrovascular” hamartoma originated from the base of the tongue. Timely surgical excision through transoral CO 2 laser microsurgery was curative in all the cases. Dyspnoea in newborns is a challenging condition and must be managed, when possible, by a well-trained paediatric team. When clinicians face obstructive airway congenital remnants, a timely and radical surgical excision is necessary to avoid potentially lethal asphyxia.
{"title":"Congenital remnants as a cause of neonatal respiratory impairment","authors":"F. Carta, R. Caria, C. Gerosa, S. Sionis, M. Puddu, G. Ottonello, R. Puxeddu","doi":"10.7363/060206","DOIUrl":"https://doi.org/10.7363/060206","url":null,"abstract":"Neonatal respiratory distress is a potentially life-threatening condition, representing a diagnostic and therapeutic challenge for physicians, especially when it is caused by rare pathologies. Head and neck remnants are benign congenital neoplasms rarely observed in newborns. Teratoma is the most common congenital tumor in childhood, while head and neck epithelial and mesenchymal hamartomas are uncommon. We report three cases of pharyngeal congenital remnants presenting with neonatal airway obstruction. We observed a 9-month-old, 35-day-old, and 15-hour-old patients, who have been referred to our Department of Otorhinolaryngology with acute airway distress. All the patients showed a pharyngeal benign lesion, since teratomas originated from the left lateral wall of the pharynx in two cases and one “fibrovascular” hamartoma originated from the base of the tongue. Timely surgical excision through transoral CO 2 laser microsurgery was curative in all the cases. Dyspnoea in newborns is a challenging condition and must be managed, when possible, by a well-trained paediatric team. When clinicians face obstructive airway congenital remnants, a timely and radical surgical excision is necessary to avoid potentially lethal asphyxia.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":"6 1","pages":"1-6"},"PeriodicalIF":0.4,"publicationDate":"2017-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44467286","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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