Multiple sclerosis (MS) is one of the most common nontraumatic disabling neurological disorders to affect young adults. It is a chronic autoimmune disease of the central nervous system presented with multifocal clinical findings modulated by various external factors.1,2 The cause of MS is unknown, but it has historically been classified as an organspecific T-cell mediated autoimmune disease. Additionally, many genes may increase disease susceptibility in addition to several well-defined environmental factors such as low serum levels of vitamin D, smoking, ultraviolet B light exposure, childhood obesity, and infection with the Epstein–Barr virus.1 However, considerably less attention is focused on supernatural causes in MS.3 Herein, we discussed patients’ supernatural beliefs on cause of MS to attract attention to the importance of plausible supernatural causes in MS. “Supernatural” refers to a phenomenon or entity that is beyond the laws of nature. It is featured in folklore and religious contexts. It can also feature as an explanation in more secular contexts, as in the cases of superstitions or belief in the paranormal. The term is attributed to nonphysical entities, such as angels, demons, gods, and spirits.4 Frequent supernatural causes linked to illness in many cultures are fate (qadar), Allah’s will, a gift from Allah, test from Allah, punishment from Allah, Nazar (evil eye), Sihr (magic or sorcery), Jinn possession, lack of faith, payback for things done wrong, disobeying family, sinful acts, sinful thoughts, etc.5,6 Koffman et al3 explored meanings of illness causation amongMSpatients. Three central themes emerged from their interviews: uncertainty, logical and scientific, and supernatural explanations. The supernatural theme comprised of three subcategories: “my challenge, my test,” “punishment,” and “fate, destiny, or just bad luck.” The belief that MS could be associated with a “challenge” or “test” was deeply embedded within religious belief system of black Caribbeanparticipants. The categoryof fate, destiny, or bad luck was also specific to black Caribbean participants, a number of whom drew on biblical phrases to help convey their thoughts. They provided accounts where theirMSwas viewed an inevitable part of Allah’s life plan for them. Punishment was characterized by wrongdoing that in some instances justified as a retribution. It was voiced by participants across both black CaribbeanandwhiteBritish ethnic groupswhoeither perceived their punishment as being justified, leveled at them personally or more widely at humankind. Most of the participants in both groups were Christian.3 Obiwuru et al7 noted that of Hispanic Americans participants more than half expressed sociocultural factors such as supernatural events (a gift from Allah) and experiencing strong emotions (fright and sadness) as the perceived cause of MS. Chen et al8 found a negative connection between spirituality and disability in MS patients on the following items: “I be
{"title":"Patients' Supernatural Beliefs on Cause of Multiple Sclerosis","authors":"H. Çaksen","doi":"10.1055/s-0043-57006","DOIUrl":"https://doi.org/10.1055/s-0043-57006","url":null,"abstract":"Multiple sclerosis (MS) is one of the most common nontraumatic disabling neurological disorders to affect young adults. It is a chronic autoimmune disease of the central nervous system presented with multifocal clinical findings modulated by various external factors.1,2 The cause of MS is unknown, but it has historically been classified as an organspecific T-cell mediated autoimmune disease. Additionally, many genes may increase disease susceptibility in addition to several well-defined environmental factors such as low serum levels of vitamin D, smoking, ultraviolet B light exposure, childhood obesity, and infection with the Epstein–Barr virus.1 However, considerably less attention is focused on supernatural causes in MS.3 Herein, we discussed patients’ supernatural beliefs on cause of MS to attract attention to the importance of plausible supernatural causes in MS. “Supernatural” refers to a phenomenon or entity that is beyond the laws of nature. It is featured in folklore and religious contexts. It can also feature as an explanation in more secular contexts, as in the cases of superstitions or belief in the paranormal. The term is attributed to nonphysical entities, such as angels, demons, gods, and spirits.4 Frequent supernatural causes linked to illness in many cultures are fate (qadar), Allah’s will, a gift from Allah, test from Allah, punishment from Allah, Nazar (evil eye), Sihr (magic or sorcery), Jinn possession, lack of faith, payback for things done wrong, disobeying family, sinful acts, sinful thoughts, etc.5,6 Koffman et al3 explored meanings of illness causation amongMSpatients. Three central themes emerged from their interviews: uncertainty, logical and scientific, and supernatural explanations. The supernatural theme comprised of three subcategories: “my challenge, my test,” “punishment,” and “fate, destiny, or just bad luck.” The belief that MS could be associated with a “challenge” or “test” was deeply embedded within religious belief system of black Caribbeanparticipants. The categoryof fate, destiny, or bad luck was also specific to black Caribbean participants, a number of whom drew on biblical phrases to help convey their thoughts. They provided accounts where theirMSwas viewed an inevitable part of Allah’s life plan for them. Punishment was characterized by wrongdoing that in some instances justified as a retribution. It was voiced by participants across both black CaribbeanandwhiteBritish ethnic groupswhoeither perceived their punishment as being justified, leveled at them personally or more widely at humankind. Most of the participants in both groups were Christian.3 Obiwuru et al7 noted that of Hispanic Americans participants more than half expressed sociocultural factors such as supernatural events (a gift from Allah) and experiencing strong emotions (fright and sadness) as the perceived cause of MS. Chen et al8 found a negative connection between spirituality and disability in MS patients on the following items: “I be","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"104 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75907981","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}
S. Hassanein, I. Elagouza, H. Sakr, Maha Z Mohammed, Ahmed Rihan, S. Deifalla
Abstract Our aim was to establish correlations between GSGC (Gait, Stairs, Gower, Chair) scores and ultrasonographic (US) findings of rectus femoris muscle (RF) and to study correlation between pulmonary function tests (PFT) and diaphragmatic muscles thickness in ambulatory boys with Duchenne muscular dystrophy (DMD). Twenty-four ambulatory boys with DMD were included. Their motor functions were assessed using GSGC scale. All the participants underwent PFT. US was used to assess RF quantitatively (gray scale analysis) and semiquantitatively (modified Heckmatt score) besides assessment of diaphragmatic muscle thickness. Patients with grade IV modified Heckmatt scale had the worst functional performance compared with grade III and II evidenced by having the highest total GSGC score ( p < 0.01), worst gait, stairs climbing, chair rising scores, and the longest time for rising from floor ( p < 0.05). A significant positive correlation was detected between forced expiratory volume in 1s/ forced vital capacity and right diaphragmatic muscle thickness. GSGC score positively correlated with RF US findings (quantitative gray scale analysis). GSGC score is a successful tool that could be used for clinical evaluation of patients with DMD. Diaphragmatic US introduces an option for screening and monitoring of restrictive respiratory pattern in patients with DMD after determining the reference values of diaphragmatic muscle thickness in different ages.
{"title":"Diaphragmatic and Rectus Femoris Muscles Ultrasonography in Relation to Motor and Respiratory Functions in Ambulatory Boys with Duchenne Muscular Dystrophy","authors":"S. Hassanein, I. Elagouza, H. Sakr, Maha Z Mohammed, Ahmed Rihan, S. Deifalla","doi":"10.1055/s-0043-1769477","DOIUrl":"https://doi.org/10.1055/s-0043-1769477","url":null,"abstract":"Abstract Our aim was to establish correlations between GSGC (Gait, Stairs, Gower, Chair) scores and ultrasonographic (US) findings of rectus femoris muscle (RF) and to study correlation between pulmonary function tests (PFT) and diaphragmatic muscles thickness in ambulatory boys with Duchenne muscular dystrophy (DMD). Twenty-four ambulatory boys with DMD were included. Their motor functions were assessed using GSGC scale. All the participants underwent PFT. US was used to assess RF quantitatively (gray scale analysis) and semiquantitatively (modified Heckmatt score) besides assessment of diaphragmatic muscle thickness. Patients with grade IV modified Heckmatt scale had the worst functional performance compared with grade III and II evidenced by having the highest total GSGC score ( p < 0.01), worst gait, stairs climbing, chair rising scores, and the longest time for rising from floor ( p < 0.05). A significant positive correlation was detected between forced expiratory volume in 1s/ forced vital capacity and right diaphragmatic muscle thickness. GSGC score positively correlated with RF US findings (quantitative gray scale analysis). GSGC score is a successful tool that could be used for clinical evaluation of patients with DMD. Diaphragmatic US introduces an option for screening and monitoring of restrictive respiratory pattern in patients with DMD after determining the reference values of diaphragmatic muscle thickness in different ages.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"1 1","pages":"352 - 359"},"PeriodicalIF":0.2,"publicationDate":"2022-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90090144","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}
N. Krothapalli, David S. Hersh, W. Yorns, G. Acsadi, F. DiMario
Abstract Epidural cerebrospinal fluid (CSF) collections after lumbar puncture are a rare and underdiagnosed entity in the pediatric population. Physicians should maintain vigilance about warning signs of severe progressive back pain extending beyond the puncture site and new neurological symptoms after lumbar puncture. Extensive symptomatic epidural collections, which may be dorsal and compromise the thecal sac, can be secondary to CSF leakage. Early diagnosis with spinal magnetic resonance imaging and prompt treatment is vital in reducing morbidity and mortality. These collections typically resolve with conservative management and no serious sequelae. We report a rare case of spinal epidural collection following a lumbar puncture in a patient with idiopathic intracranial hypertension that was successfully treated with a blood patch and surgical decompression in the setting of significant neurological deterioration.
{"title":"Spinal Epidural Collection following Lumbar Puncture in a Patient with Idiopathic Intracranial Hypertension","authors":"N. Krothapalli, David S. Hersh, W. Yorns, G. Acsadi, F. DiMario","doi":"10.1055/s-0043-57012","DOIUrl":"https://doi.org/10.1055/s-0043-57012","url":null,"abstract":"Abstract Epidural cerebrospinal fluid (CSF) collections after lumbar puncture are a rare and underdiagnosed entity in the pediatric population. Physicians should maintain vigilance about warning signs of severe progressive back pain extending beyond the puncture site and new neurological symptoms after lumbar puncture. Extensive symptomatic epidural collections, which may be dorsal and compromise the thecal sac, can be secondary to CSF leakage. Early diagnosis with spinal magnetic resonance imaging and prompt treatment is vital in reducing morbidity and mortality. These collections typically resolve with conservative management and no serious sequelae. We report a rare case of spinal epidural collection following a lumbar puncture in a patient with idiopathic intracranial hypertension that was successfully treated with a blood patch and surgical decompression in the setting of significant neurological deterioration.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"32 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89441782","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}
Shingo Kanatani, H. Yamaguchi, Shizuka Oikawa, Shoichi Tokumoto, Kazumi Tomioka, Masahiro Nishiyama, K. Nozu, H. Nagase
Abstract Myasthenia gravis (MG) is a rare, long-term neuromuscular disorder that can affect individuals of any age. In Japan, the Omicron variant of coronavirus disease 2019 (COVID-19) began spreading in 2022, and many cases of neurological symptoms caused by the virus have been reported. Although COVID-19 has been reported to exacerbate MG in adults, there are no reports on the effects of COVID-19 on the MG symptoms of pediatric patients. We report the case of a 6-year-old girl with a 3-year history of MG who presented to our hospital with symptom exacerbation after COVID-19 infection. Four days before admission, she developed fever with a runny nose and cough. Three days before admission, she developed severe bilateral blepharoptosis and progressive limb weakness, and 2 days before admission, she was diagnosed with COVID-19 by SARS-CoV-2 antigen test. Physical examination revealed moderate blepharoptosis and mild bilateral upper and lower limb weakness. We diagnosed her with worsening MG due to COVID-19, and she was administered 400 mg/kg intravenous immunoglobulin (IVIG) daily for 5 days with continued oral corticosteroids and tacrolimus. The patient's symptoms improved promptly after admission and, at discharge 7 days after admission, her symptoms had significantly improved. During the 1-month outpatient follow-up period, she remained stable and the anti-acetylcholine receptor (AchR) antibody level was reduced to 14.6 nmol/L (from 18.5 nmol/L on admission). Our case suggests that COVID-19 exacerbates MG in both children and adults.
{"title":"A Case of Generalized Myasthenia Gravis Exacerbated by COVID-19","authors":"Shingo Kanatani, H. Yamaguchi, Shizuka Oikawa, Shoichi Tokumoto, Kazumi Tomioka, Masahiro Nishiyama, K. Nozu, H. Nagase","doi":"10.1055/s-0043-1761932","DOIUrl":"https://doi.org/10.1055/s-0043-1761932","url":null,"abstract":"Abstract Myasthenia gravis (MG) is a rare, long-term neuromuscular disorder that can affect individuals of any age. In Japan, the Omicron variant of coronavirus disease 2019 (COVID-19) began spreading in 2022, and many cases of neurological symptoms caused by the virus have been reported. Although COVID-19 has been reported to exacerbate MG in adults, there are no reports on the effects of COVID-19 on the MG symptoms of pediatric patients. We report the case of a 6-year-old girl with a 3-year history of MG who presented to our hospital with symptom exacerbation after COVID-19 infection. Four days before admission, she developed fever with a runny nose and cough. Three days before admission, she developed severe bilateral blepharoptosis and progressive limb weakness, and 2 days before admission, she was diagnosed with COVID-19 by SARS-CoV-2 antigen test. Physical examination revealed moderate blepharoptosis and mild bilateral upper and lower limb weakness. We diagnosed her with worsening MG due to COVID-19, and she was administered 400 mg/kg intravenous immunoglobulin (IVIG) daily for 5 days with continued oral corticosteroids and tacrolimus. The patient's symptoms improved promptly after admission and, at discharge 7 days after admission, her symptoms had significantly improved. During the 1-month outpatient follow-up period, she remained stable and the anti-acetylcholine receptor (AchR) antibody level was reduced to 14.6 nmol/L (from 18.5 nmol/L on admission). Our case suggests that COVID-19 exacerbates MG in both children and adults.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"31 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80873480","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}
To the Editor: More than 1 in 10 babies worldwide are born prematurely every year. Although the survival rates have improved over the past two decades, especially for babies born extremely prematurely, over three-quarters of extremely preterm infants have at least one chronic health condition as adolescents or adults.1 Examples include various neurodevelopment disorders that can make school/work performance more challenging. We need to determine how premature birth leads to these disabilities later in life and ultimately help preterm babies face these complications when they occur. Very preterm birth could be associated with long-standing brainmetabolite alterations, which appear responsible for the deficits reported in executive functions at school age. For instance, very preterm children aged 8 to 13 years exhibit higher choline-to-creatine ratio and myoinositol-to-creatine ratio and lower glutamate plus glutamine-to-creatine ratio in frontal white matter, as compared with term-born peers.2 Lower executive function abilities (including inhibition and interference, working memory, cognitive flexibility, fluency, and planning) were associated with lower frontal glutamate plus glutamine-to-creatine ratios in both groups and higher myoinositol-to-creatine ratio only in children born very preterm.2Assessingbrainmetabolism inpretermbabiesmay thus allow for the early identification of children at risk of developingdeficits and evenprovide avehicle for innovativemetabolic interventions. This approach should blend state-of-the-art neuroimaging techniques (such as magnetic resonance spectroscopy [MRS]) to study brainmetabolismwith the expertise of longitudinal neurodevelopmental evaluation. An assessment of crucial brain metabolites (such as creatine, choline, and N-acetyl aspartate) could perhaps become an adjunct component of routine screening in preterm children following clinical findings, biochemical profiling, and other imaging studies. This would lead to developing a diagnostic (and prognostic) testing algorithm in a child born very preterm suspected of having indicative neurodevelopmental findings and impaired brain metabolism. Building an international database that collects metabolic signatures of preterm babies from birth to adulthood, complemented by developmental screening upshots, would enable better predictionof long-termoutcomes after prematurebirth. In addition, data should be made available to navigate future therapeutic regimensandperhaps tacklepossibledisabilitiesof verypretermchildren in later life. Inaperfectworld, allpreterm children should receiveMRS andbe enrolled into this database. This initiative should follow thestepsofneonatalneuroimaging for hypoxic-ischemic injury (and therapeutic hypothermia) in which magnetic resonance imaging with MRS shifted from experimental diagnostics into a critical component of standard practice for this subpopulation andhas already been integrated into routineprotocol, at least in theUnited State
{"title":"Preterm Babies: Predicting the Consequences","authors":"S. Ostojić","doi":"10.1055/s-0043-1761933","DOIUrl":"https://doi.org/10.1055/s-0043-1761933","url":null,"abstract":"To the Editor: More than 1 in 10 babies worldwide are born prematurely every year. Although the survival rates have improved over the past two decades, especially for babies born extremely prematurely, over three-quarters of extremely preterm infants have at least one chronic health condition as adolescents or adults.1 Examples include various neurodevelopment disorders that can make school/work performance more challenging. We need to determine how premature birth leads to these disabilities later in life and ultimately help preterm babies face these complications when they occur. Very preterm birth could be associated with long-standing brainmetabolite alterations, which appear responsible for the deficits reported in executive functions at school age. For instance, very preterm children aged 8 to 13 years exhibit higher choline-to-creatine ratio and myoinositol-to-creatine ratio and lower glutamate plus glutamine-to-creatine ratio in frontal white matter, as compared with term-born peers.2 Lower executive function abilities (including inhibition and interference, working memory, cognitive flexibility, fluency, and planning) were associated with lower frontal glutamate plus glutamine-to-creatine ratios in both groups and higher myoinositol-to-creatine ratio only in children born very preterm.2Assessingbrainmetabolism inpretermbabiesmay thus allow for the early identification of children at risk of developingdeficits and evenprovide avehicle for innovativemetabolic interventions. This approach should blend state-of-the-art neuroimaging techniques (such as magnetic resonance spectroscopy [MRS]) to study brainmetabolismwith the expertise of longitudinal neurodevelopmental evaluation. An assessment of crucial brain metabolites (such as creatine, choline, and N-acetyl aspartate) could perhaps become an adjunct component of routine screening in preterm children following clinical findings, biochemical profiling, and other imaging studies. This would lead to developing a diagnostic (and prognostic) testing algorithm in a child born very preterm suspected of having indicative neurodevelopmental findings and impaired brain metabolism. Building an international database that collects metabolic signatures of preterm babies from birth to adulthood, complemented by developmental screening upshots, would enable better predictionof long-termoutcomes after prematurebirth. In addition, data should be made available to navigate future therapeutic regimensandperhaps tacklepossibledisabilitiesof verypretermchildren in later life. Inaperfectworld, allpreterm children should receiveMRS andbe enrolled into this database. This initiative should follow thestepsofneonatalneuroimaging for hypoxic-ischemic injury (and therapeutic hypothermia) in which magnetic resonance imaging with MRS shifted from experimental diagnostics into a critical component of standard practice for this subpopulation andhas already been integrated into routineprotocol, at least in theUnited State","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"198 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79975515","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}
Islamic psychology, the science of the nafs (“self” or “psyche”), is the medical and philosophical study of the psyche from an Islamic perspective and addresses topics in psychology, neuroscience, philosophy of mind, and psychiatry as well as psychosomatic medicine. There are many studies of many early Muslim and non-Muslim scholars on Islamic psychology. In this article, we present Herbert George Wells' (1866–1946) opinions about Islamic psychology to attract attention to the importance of Islamic psychology on human and community health. Wells wrote the following in his books: Islam was full of the spirit of kindliness, generosity, and brotherhood; it was a simple and understandable religion. Islam appeals to no revelation, no authoritative teaching, and no mystery. The statement it makes is, it declares, a mere statement of what we may all perceive and experience. Islam prevailed because it was the best social and political order the times could offer. It was the broadest, freshest, and cleanest political idea that had yet come into actual activity in the world, and it offered better terms than any other to the mass of mankind. Islam swept for a time across the Mediterranean scene, with very considerable reactions upon medieval science and thought. Islam was never saddled with a creed. With the very name “Islam” (submission to Allah), there is no quarrel for those who hold the new faith. Based on the studies of early Eastern and Western scholars, we strongly believe that Islamic psychology should be integrated with modern medical practices. For this purpose, we think that health professionals should be informed on Islamic psychology and it should raise awareness about the importance of Islamic psychology on human and community health.
{"title":"Islamic Psychology: Historical Notes from Herbert George Wells (1866–1946)","authors":"H. Çaksen, Feyza Çaksen","doi":"10.1055/s-0042-1758473","DOIUrl":"https://doi.org/10.1055/s-0042-1758473","url":null,"abstract":"Islamic psychology, the science of the nafs (“self” or “psyche”), is the medical and philosophical study of the psyche from an Islamic perspective and addresses topics in psychology, neuroscience, philosophy of mind, and psychiatry as well as psychosomatic medicine. There are many studies of many early Muslim and non-Muslim scholars on Islamic psychology. In this article, we present Herbert George Wells' (1866–1946) opinions about Islamic psychology to attract attention to the importance of Islamic psychology on human and community health. Wells wrote the following in his books: Islam was full of the spirit of kindliness, generosity, and brotherhood; it was a simple and understandable religion. Islam appeals to no revelation, no authoritative teaching, and no mystery. The statement it makes is, it declares, a mere statement of what we may all perceive and experience. Islam prevailed because it was the best social and political order the times could offer. It was the broadest, freshest, and cleanest political idea that had yet come into actual activity in the world, and it offered better terms than any other to the mass of mankind. Islam swept for a time across the Mediterranean scene, with very considerable reactions upon medieval science and thought. Islam was never saddled with a creed. With the very name “Islam” (submission to Allah), there is no quarrel for those who hold the new faith. Based on the studies of early Eastern and Western scholars, we strongly believe that Islamic psychology should be integrated with modern medical practices. For this purpose, we think that health professionals should be informed on Islamic psychology and it should raise awareness about the importance of Islamic psychology on human and community health.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"15 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74766602","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}
T. Nagpal, Manisha Goyal, P. Mathur, K. K. Agrawal, Ashok Gupta
Abstract A high index of suspicion is required to diagnose rare genetic disorders, such as Pompe disease, with common clinical manifestations in children. There is a need to sensitize physicians regarding cues to early screening and diagnosis of such patients. Minimal epidemiological data are available on Pompe disease in India. The aim of this study was to determine the prevalence of Pompe disease in high-risk pediatric populations and determine the appropriateness of screening dried blood spot (DBS) tests to facilitate the diagnosis of Pompe disease. We screened pediatric patients presented with (1) unexplained hypotonia, respiratory distress, cardiomyopathy, and elevated liver function tests; and (2) unexplained limb girdle muscle weakness through a DBS test for enzyme assay. Those patients found positive underwent acid alpha-glucosidase mutational analysis. This prospective cross-sectional study was conducted in 45 suspected patients after approval from the institutional ethical committee. Of the 45 suspected patients, 9 (20%) were found to be positive by DBS test. Out of these nine tested, four (44.4%) were positive, two (22.2%) were negative, and three (33.3%) could not be tested for mutation analysis. The prevalence of genetically confirmed Pompe disease in high-risk populations was 8.8%. The results of this study show that clinical suspicion and DBS filter paper test facilitate early diagnosis and management, thereby improving the quality of life in patients. DBS test acts as a robust, rapid first-tier screening test for Pompe disease.
{"title":"Screening for Pompe Disease in High-Risk Pediatric Patients: Experience from a Tertiary Care Center in Rajasthan","authors":"T. Nagpal, Manisha Goyal, P. Mathur, K. K. Agrawal, Ashok Gupta","doi":"10.1055/s-0043-57241","DOIUrl":"https://doi.org/10.1055/s-0043-57241","url":null,"abstract":"Abstract A high index of suspicion is required to diagnose rare genetic disorders, such as Pompe disease, with common clinical manifestations in children. There is a need to sensitize physicians regarding cues to early screening and diagnosis of such patients. Minimal epidemiological data are available on Pompe disease in India. The aim of this study was to determine the prevalence of Pompe disease in high-risk pediatric populations and determine the appropriateness of screening dried blood spot (DBS) tests to facilitate the diagnosis of Pompe disease. We screened pediatric patients presented with (1) unexplained hypotonia, respiratory distress, cardiomyopathy, and elevated liver function tests; and (2) unexplained limb girdle muscle weakness through a DBS test for enzyme assay. Those patients found positive underwent acid alpha-glucosidase mutational analysis. This prospective cross-sectional study was conducted in 45 suspected patients after approval from the institutional ethical committee. Of the 45 suspected patients, 9 (20%) were found to be positive by DBS test. Out of these nine tested, four (44.4%) were positive, two (22.2%) were negative, and three (33.3%) could not be tested for mutation analysis. The prevalence of genetically confirmed Pompe disease in high-risk populations was 8.8%. The results of this study show that clinical suspicion and DBS filter paper test facilitate early diagnosis and management, thereby improving the quality of life in patients. DBS test acts as a robust, rapid first-tier screening test for Pompe disease.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"16 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91210921","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}
Federico Baltar Yanes, Florencia Birriel, G. G. Rabelino
Abstract Although the association between basal ganglia (BG) stroke and mild traumatic brain injury (TBI) is well recognized, its association with lenticulostriate vasculopathy has only recently been described. We present the case of a 6-month-old female infant without personal or familiar relevant records who presented with left-sided hemiparesis and without altered consciousness after a mild TBI. An emergency computed tomography (CT) scan of the brain revealed bilateral linear calcifications along the course of the lenticulostriate arteries. Brain magnetic resonance imaging (MRI) revealed an ischemic lesion in the right BG and damage to the posterior limb of the right internal capsule. A few months after the ischemic event, the patient was asymptomatic. Given the clinical, radiological, and evolutionary characteristics of this group of patients, the term mineralizing angiopathy is proposed to define a specific clinical-imaging syndrome in infants who suffer a BG stroke after a mild TBI and present with the calcification of the lenticulostriate arteries.
{"title":"Basal Ganglia Stroke after Mild Traumatic Brain Injury in Mineralizing Lenticulostriate Vasculopathy","authors":"Federico Baltar Yanes, Florencia Birriel, G. G. Rabelino","doi":"10.1055/s-0043-1761486","DOIUrl":"https://doi.org/10.1055/s-0043-1761486","url":null,"abstract":"Abstract Although the association between basal ganglia (BG) stroke and mild traumatic brain injury (TBI) is well recognized, its association with lenticulostriate vasculopathy has only recently been described. We present the case of a 6-month-old female infant without personal or familiar relevant records who presented with left-sided hemiparesis and without altered consciousness after a mild TBI. An emergency computed tomography (CT) scan of the brain revealed bilateral linear calcifications along the course of the lenticulostriate arteries. Brain magnetic resonance imaging (MRI) revealed an ischemic lesion in the right BG and damage to the posterior limb of the right internal capsule. A few months after the ischemic event, the patient was asymptomatic. Given the clinical, radiological, and evolutionary characteristics of this group of patients, the term mineralizing angiopathy is proposed to define a specific clinical-imaging syndrome in infants who suffer a BG stroke after a mild TBI and present with the calcification of the lenticulostriate arteries.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"25 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76073251","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}
The Joubert syndrome (JS), Meckel syndrome (MKS), Bardet-Biedl syndrome (BBS), Alström syndrome (AS), and nephronophthisis (NPH) ciliopathy spectrum could represent one of the major examples for progresses and challenges in pediatric genetics and neurosciences during the last three decades. In fact, advancing in our understanding of these pediatric neurological diseases illustrates many central notions of human genetics. The JS phenotype itself is caused by mutations in at least 40 genes, all encoding critical components associated with the primary cilium. Primary cilia are microtubule-based organelles that play crucial roles in the development and homeostasis of different tissues and organs, within both the central nervous system and also in nearly all other systems. Protruding from the cells, these cellular antennae sense different signals and mediate Hedgehog as well as other important signaling pathways relevant to brain and different organs development and function, such as the Wnt signaling. Importantly, ciliary dysfunction causes several human genetic diseases known as “ciliopathies,” which encompass infantileand childhood-onset syndromes associated with multiple congenital anomalies and broad neurodevelopmental impairment as well as later onset conditions characterized by single-organ failure and less prominent neurological features. Progress of scientific research in the field of the JSMKS-BBS-AS-NPH phenotypic spectrum and its associated molecular mechanisms stimulated extensive functional (cellular and animal) studies that explored the overall crucial role of primary cilia in both humandevelopment and disease. This research shed a new light on the genetic mechanisms underlying the JS-MKS-BBS-AS-NPH spectrum in affected individuals carrying pathogenic mutations in central ciliarelated genes. This also allowed the identification of potentially promising etiologically targeted therapies across the different genetic causes, as well as the generation of a ranges of precision medicine approaches in the field of pediatric ciliopathies. In this special issue, clinicians and scientists from different universities and teaching hospitals contributed a number of original articles and in-depth reviews covering many aspects of the clinical assessment, associated genetic and molecular mechanisms, therapeutic management, and prevention and treatment of ciliopathies and ciliarelated neurodevelopmental conditions in children. In fact, a multidisciplinary approach to ciliopathies across different medical specialties is now essential. Pediatricians, neurologists, geneticists, nephrologists, and ophthalmologists all have valuable roles in clinically assessing and managing children diagnosed with ciliopathies and associated developmental diseases. In the last three decades, the primary cilium was considered to be a vestigial organelle, and ciliopathies were not considered as a coherent group of phenotypically and genetically distinct diseases. Thus, importa
{"title":"Ciliopathies in Children: Clinical and Translational Insights","authors":"R. Chimenz","doi":"10.1055/s-0042-1759537","DOIUrl":"https://doi.org/10.1055/s-0042-1759537","url":null,"abstract":"The Joubert syndrome (JS), Meckel syndrome (MKS), Bardet-Biedl syndrome (BBS), Alström syndrome (AS), and nephronophthisis (NPH) ciliopathy spectrum could represent one of the major examples for progresses and challenges in pediatric genetics and neurosciences during the last three decades. In fact, advancing in our understanding of these pediatric neurological diseases illustrates many central notions of human genetics. The JS phenotype itself is caused by mutations in at least 40 genes, all encoding critical components associated with the primary cilium. Primary cilia are microtubule-based organelles that play crucial roles in the development and homeostasis of different tissues and organs, within both the central nervous system and also in nearly all other systems. Protruding from the cells, these cellular antennae sense different signals and mediate Hedgehog as well as other important signaling pathways relevant to brain and different organs development and function, such as the Wnt signaling. Importantly, ciliary dysfunction causes several human genetic diseases known as “ciliopathies,” which encompass infantileand childhood-onset syndromes associated with multiple congenital anomalies and broad neurodevelopmental impairment as well as later onset conditions characterized by single-organ failure and less prominent neurological features. Progress of scientific research in the field of the JSMKS-BBS-AS-NPH phenotypic spectrum and its associated molecular mechanisms stimulated extensive functional (cellular and animal) studies that explored the overall crucial role of primary cilia in both humandevelopment and disease. This research shed a new light on the genetic mechanisms underlying the JS-MKS-BBS-AS-NPH spectrum in affected individuals carrying pathogenic mutations in central ciliarelated genes. This also allowed the identification of potentially promising etiologically targeted therapies across the different genetic causes, as well as the generation of a ranges of precision medicine approaches in the field of pediatric ciliopathies. In this special issue, clinicians and scientists from different universities and teaching hospitals contributed a number of original articles and in-depth reviews covering many aspects of the clinical assessment, associated genetic and molecular mechanisms, therapeutic management, and prevention and treatment of ciliopathies and ciliarelated neurodevelopmental conditions in children. In fact, a multidisciplinary approach to ciliopathies across different medical specialties is now essential. Pediatricians, neurologists, geneticists, nephrologists, and ophthalmologists all have valuable roles in clinically assessing and managing children diagnosed with ciliopathies and associated developmental diseases. In the last three decades, the primary cilium was considered to be a vestigial organelle, and ciliopathies were not considered as a coherent group of phenotypically and genetically distinct diseases. Thus, importa","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"1 1","pages":"001 - 002"},"PeriodicalIF":0.2,"publicationDate":"2022-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88335302","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}
Sixuan Wang, Zhenzhen Dou, W. Feng, B. Hu, Yan-hui Cui, Xiaojian Yang, Li Li, W. Ge, Gang Liu
Abstract In this article, we report a 10-year-old boy with acute bacteremia and left eye blindness. Culture from abscess drainage was positive for Streptococcus constellatus . Infection caused by S. constellatus is rare among children, and to our knowledge, this is the first report of this pathogen causing blindness. The rapidness of progression in this case is alarming. We also summarize other cases of S. constellatus infection.
{"title":"Streptococcus constellatus -Induced Blindness in a 10-Year-Old Boy: A Case Report","authors":"Sixuan Wang, Zhenzhen Dou, W. Feng, B. Hu, Yan-hui Cui, Xiaojian Yang, Li Li, W. Ge, Gang Liu","doi":"10.1055/s-0043-1768655","DOIUrl":"https://doi.org/10.1055/s-0043-1768655","url":null,"abstract":"Abstract In this article, we report a 10-year-old boy with acute bacteremia and left eye blindness. Culture from abscess drainage was positive for Streptococcus constellatus . Infection caused by S. constellatus is rare among children, and to our knowledge, this is the first report of this pathogen causing blindness. The rapidness of progression in this case is alarming. We also summarize other cases of S. constellatus infection.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"144 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78048359","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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