Severe acute malnutrition (SAM) is a major contributor to under-five mortality in developing countries such as India, where SAM children are susceptible to infections. However, there is inconsistent literature on the derangement of immune mechanisms and subsequent infection-related mounting of inflammatory responses in SAM cases compared to nutritionally-normal controls with infections. To address this, authors conducted a case–control study comparing serum inflammatory markers in 60 SAM children with systemic infections to nutritionally-normal children with infection. Cases had a lower mean serum C-reactive protein (CRP) on admission compared to controls (p-value <0.001), which continued during the follow-up (p-value <0.001). Cases also had a lower mean serum interleukin-6 (IL-6) on admission (p-value = 0.04). Baseline CRP, procalcitonin, and follow-up procalcitonin were positively correlated with antibiotic therapy duration (p-value = 0.018, 0.025, and 0.007, respectively). This study suggests that SAM children had some ability to mount an inflammatory response during a systemic infection, but it was weaker compared to nutritionally normal children with a systemic infection.
{"title":"Serum Inflammatory Markers in Children with Severe Acute Malnutrition with Systemic Infections: A Case–Control Study","authors":"Naznin Parvin, Virendra Kumar, Praveen Kumar, Rajeev Goyal","doi":"10.1007/s12098-023-04961-7","DOIUrl":"https://doi.org/10.1007/s12098-023-04961-7","url":null,"abstract":"<p>Severe acute malnutrition (SAM) is a major contributor to under-five mortality in developing countries such as India, where SAM children are susceptible to infections. However, there is inconsistent literature on the derangement of immune mechanisms and subsequent infection-related mounting of inflammatory responses in SAM cases compared to nutritionally-normal controls with infections. To address this, authors conducted a case–control study comparing serum inflammatory markers in 60 SAM children with systemic infections to nutritionally-normal children with infection. Cases had a lower mean serum C-reactive protein (CRP) on admission compared to controls (<i>p</i>-value <0.001), which continued during the follow-up (<i>p</i>-value <0.001). Cases also had a lower mean serum interleukin-6 (IL-6) on admission (<i>p</i>-value = 0.04). Baseline CRP, procalcitonin, and follow-up procalcitonin were positively correlated with antibiotic therapy duration (<i>p</i>-value = 0.018, 0.025, and 0.007, respectively). This study suggests that SAM children had some ability to mount an inflammatory response during a systemic infection, but it was weaker compared to nutritionally normal children with a systemic infection.</p>","PeriodicalId":22491,"journal":{"name":"The Indian Journal of Pediatrics","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138681907","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 : 2023-12-15DOI: 10.1007/s12098-023-04958-2
Abstract
Of the primary vasculitis pediatricians are familiar with, Kawasaki disease and IgA vasculitis are the most common. The other large, medium and small vessel vasculitis are seldom seen in practice. Though rare, early diagnosis and appropriate management is critical for the best outcome. Primary vasculitis in the pediatric age group have several differential diagnoses which range from infections to monogenic causes such as deficiency of Adenosine Deaminase -2. Each child, therefore, needs a careful systematic approach.
摘要 在儿科医生熟悉的原发性血管炎中,川崎病和 IgA 血管炎最为常见。其他大、中、小血管炎在临床上很少见。虽然罕见,但早期诊断和适当的治疗对获得最佳疗效至关重要。儿科原发性血管炎有多种鉴别诊断,从感染到单基因病因,如缺乏腺苷脱氨酶-2。
{"title":"Childhood Vasculitis","authors":"","doi":"10.1007/s12098-023-04958-2","DOIUrl":"https://doi.org/10.1007/s12098-023-04958-2","url":null,"abstract":"<h3>Abstract</h3> <p>Of the primary vasculitis pediatricians are familiar with, Kawasaki disease and IgA vasculitis are the most common. The other large, medium and small vessel vasculitis are seldom seen in practice. Though rare, early diagnosis and appropriate management is critical for the best outcome. Primary vasculitis in the pediatric age group have several differential diagnoses which range from infections to monogenic causes such as deficiency of Adenosine Deaminase -2. Each child, therefore, needs a careful systematic approach.</p>","PeriodicalId":22491,"journal":{"name":"The Indian Journal of Pediatrics","volume":"79 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138681551","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 review whether the periodic rotation of nasal mask with binasal prongs is superior to continuous application of either of the interfaces in preterm infants on non-invasive positive pressure respiratory support.
Method
The authors searched Medline, CINAHL, Embase, Web of Science, and CENTRAL for randomized controlled trials (RCTs) comparing periodic rotation of the two interfaces (mask or prongs) against the continuous application of either, in preterm infants on nasal continuous positive airway pressure (nCPAP) or nasal intermittent positive pressure ventilation (NIPPV). They performed a random-effects meta-analysis using RevMan 5.4. The primary outcome was the incidence of moderate to severe nasal injury. Other outcomes included any nasal injury, need for invasive ventilation, duration of respiratory support, hospital stay, and mortality.
Results
Four RCTs (520 participants) were included. There was no difference in the incidence of moderate to severe nasal injury between periodic rotation vs. continuous nasal mask (3 RCTs, 293 participants; RR: 1.75, 95% CI: 0.73–4.19), or periodic rotation vs. continuous binasal prongs (3 RCTs, 296 participants; RR: 0.40, 95% CI: 0.14–1.11). Periodic rotation lowered the incidence of any grade nasal injury compared to continuous binasal prongs (RR: 0.61, 95% CI: 0.49–0.75) but not compared to continuous nasal mask (RR: 1.38, 95% CI: 0.92–2.06). Periodic rotation was associated with longer non-invasive respiratory support (compared to prongs) and prolonged hospital stay (compared to masks). There were no significant differences in other clinical outcomes.
Conclusions
Among preterm infants receiving non-invasive respiratory support, periodically rotating a nasal mask with short binasal prongs may not be superior to the continuous application of nasal masks.
{"title":"Periodic Rotation versus Continuous Application of Same Nasal Interface for Non-invasive Respiratory Support in Preterm Neonates: A Systematic Review and Meta-analysis","authors":"Jogender Kumar, Bharti Yadav, Jitendra Meena, Venkataseshan Sundaram, Sourabh Dutta, Praveen Kumar","doi":"10.1007/s12098-023-04946-6","DOIUrl":"https://doi.org/10.1007/s12098-023-04946-6","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Objectives</h3><p>To review whether the periodic rotation of nasal mask with binasal prongs is superior to continuous application of either of the interfaces in preterm infants on non-invasive positive pressure respiratory support.</p><h3 data-test=\"abstract-sub-heading\">Method</h3><p>The authors searched Medline, CINAHL, Embase, Web of Science, and CENTRAL for randomized controlled trials (RCTs) comparing periodic rotation of the two interfaces (mask or prongs) against the continuous application of either, in preterm infants on nasal continuous positive airway pressure (nCPAP) or nasal intermittent positive pressure ventilation (NIPPV). They performed a random-effects meta-analysis using RevMan 5.4. The primary outcome was the incidence of moderate to severe nasal injury. Other outcomes included any nasal injury, need for invasive ventilation, duration of respiratory support, hospital stay, and mortality.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Four RCTs (520 participants) were included. There was no difference in the incidence of moderate to severe nasal injury between periodic rotation vs. continuous nasal mask (3 RCTs, 293 participants; RR: 1.75, 95% CI: 0.73–4.19), or periodic rotation vs. continuous binasal prongs (3 RCTs, 296 participants; RR: 0.40, 95% CI: 0.14–1.11). Periodic rotation lowered the incidence of any grade nasal injury compared to continuous binasal prongs (RR: 0.61, 95% CI: 0.49–0.75) but not compared to continuous nasal mask (RR: 1.38, 95% CI: 0.92–2.06). Periodic rotation was associated with longer non-invasive respiratory support (compared to prongs) and prolonged hospital stay (compared to masks). There were no significant differences in other clinical outcomes.</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>Among preterm infants receiving non-invasive respiratory support, periodically rotating a nasal mask with short binasal prongs may not be superior to the continuous application of nasal masks.</p>","PeriodicalId":22491,"journal":{"name":"The Indian Journal of Pediatrics","volume":"67 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138681543","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 investigate the barriers and facilitators involved in the back-referral process of newborns from a tertiary care centre to district Special Newborn Care Units (SNCUs) for step-down care.
Methods
The study employed mixed methods, including feedback questionnaires for parents of back-referred neonates, in-depth interviews with doctors and nurses from six SNCUs, and focused group discussions with medical staff at a tertiary-level institute. The study was conducted over a period of seven and a half months in a north Indian tertiary care centre.
Results
The back-referral process received positive acceptance from parents and healthcare personnel. Notable barriers included the lack of Retinopathy of Prematurity (ROP) screening services in some SNCUs, inadequate free transport facilities for back-referral, and deficiencies in two-way communication. Parents provided valuable feedback for improvement, suggesting back-referral to the SNCU nearest to their home, daytime back-referral with adequate prior notice, and the availability of post-partum obstetric care at SNCUs for the mother. Inadequate environmental hygiene and limited availability of ROP services were identified as concerns. Facilitators included effective communication, proximity-based back-referral, and ongoing mentoring of SNCUs by tertiary centres.
Conclusions
Establishing efficient two-way communication between tertiary centres and district SNCUs, provision of essential facilities at SNCUs, and ensuring a seamless continuum of care are pivotal for successful back-referral of convalescent neonates. Addressing these factors can contribute to improving the back-referral process, level 3 bed availability at the tertiary centres and neonatal health outcomes.
{"title":"Back-Referral of Convalescing Neonates: Challenges and Strategies in India","authors":"Soumalya Chakraborty, Suresh Kumar Angurana, Shiv Sajan Saini, Sundaram Venkataseshan, Praveen Kumar","doi":"10.1007/s12098-023-04942-w","DOIUrl":"https://doi.org/10.1007/s12098-023-04942-w","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Objectives</h3><p>To investigate the barriers and facilitators involved in the back-referral process of newborns from a tertiary care centre to district Special Newborn Care Units (SNCUs) for step-down care.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>The study employed mixed methods, including feedback questionnaires for parents of back-referred neonates, in-depth interviews with doctors and nurses from six SNCUs, and focused group discussions with medical staff at a tertiary-level institute. The study was conducted over a period of seven and a half months in a north Indian tertiary care centre.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>The back-referral process received positive acceptance from parents and healthcare personnel. Notable barriers included the lack of Retinopathy of Prematurity (ROP) screening services in some SNCUs, inadequate free transport facilities for back-referral, and deficiencies in two-way communication. Parents provided valuable feedback for improvement, suggesting back-referral to the SNCU nearest to their home, daytime back-referral with adequate prior notice, and the availability of post-partum obstetric care at SNCUs for the mother. Inadequate environmental hygiene and limited availability of ROP services were identified as concerns. Facilitators included effective communication, proximity-based back-referral, and ongoing mentoring of SNCUs by tertiary centres.</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>Establishing efficient two-way communication between tertiary centres and district SNCUs, provision of essential facilities at SNCUs, and ensuring a seamless continuum of care are pivotal for successful back-referral of convalescent neonates. Addressing these factors can contribute to improving the back-referral process, level 3 bed availability at the tertiary centres and neonatal health outcomes.</p>","PeriodicalId":22491,"journal":{"name":"The Indian Journal of Pediatrics","volume":"32 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138681549","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 : 2023-12-15DOI: 10.1007/s12098-023-04977-z
Diksha Gupta, Aman Elwadhi, Aditi Dhaka, Prateek Kumar Panda, Indar Kumar Sharawat
{"title":"Status Dystonicus: An Atypical Presentation of Subacute Sclerosing Panencephalitis","authors":"Diksha Gupta, Aman Elwadhi, Aditi Dhaka, Prateek Kumar Panda, Indar Kumar Sharawat","doi":"10.1007/s12098-023-04977-z","DOIUrl":"https://doi.org/10.1007/s12098-023-04977-z","url":null,"abstract":"","PeriodicalId":22491,"journal":{"name":"The Indian Journal of Pediatrics","volume":"234 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138681348","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 : 2023-12-15DOI: 10.1007/s12098-023-04943-9
Kamal Kumar Singhal, Milind Shinde
Tuberculosis (TB) has remained a global health challenge despite the availability of effective anti-tubercular drugs and various treatment strategies. Apart from the complications related to TB disease per se, adverse effects of antitubercular therapy (ATT) also contribute to morbidity. In addition to the adverse effects, the long duration of the treatment regimen also reduces the patient’s acceptability of ATT. The available “short-course treatment regimens” are still relatively long, thereby adversely affecting treatment compliance. There is a need for effective, safe, short and intensive regimens for TB which can reduce the treatment cost and adverse effects, thereby improving its acceptance. With the emergence of new evidence, the World Health Organization (WHO) has recently endorsed 4 mo short duration ATT regimen for non-severe, drug-sensitive cases of tuberculosis. Even in severe forms of disease like tubercular meningitis (TBM), trials are underway evaluating efficacy and safety of shorter regimens. Inclusion of fluroquinolones and rifapentine help shorten the regimens. These shortened regimens, however, need more close monitoring for adverse effects and may need to be converted to longer course if there is inadequate clinical response. Thus, shorter regimens for pediatric TB are likely to not only decrease the burden on patients and healthcare but also improve compliance and lower the side effects of the drugs due to prolonged exposure. This article reviews the current evidence and the guidelines pertaining to the shortened, intensive regimens for drug-sensitive tuberculosis.
尽管已经有了有效的抗结核药物和各种治疗策略,但结核病(TB)仍然是一个全球性的健康挑战。除了与结核病本身相关的并发症外,抗结核治疗(ATT)的不良反应也是导致发病的原因之一。除不良反应外,疗程过长也降低了患者对 ATT 的接受程度。现有的 "短程治疗方案 "疗程仍然相对较长,从而对治疗的依从性产生了不利影响。因此,我们需要有效、安全、短程和强化的结核病治疗方案,以降低治疗成本和不良反应,从而提高治疗的可接受性。随着新证据的出现,世界卫生组织(WHO)最近批准了针对非重症、对药物敏感的结核病病例的 4 个月短程 ATT 方案。即使对于结核性脑膜炎(TBM)等重症病例,目前也正在进行试验,评估短期治疗方案的疗效和安全性。加入氟喹诺酮类药物和利福喷丁有助于缩短疗程。然而,这些缩短的治疗方案需要更密切地监测不良反应,如果临床反应不充分,可能需要转为更长的疗程。因此,缩短小儿结核病的疗程不仅可能减轻患者和医护人员的负担,还能提高依从性,并降低因长时间接触药物而产生的副作用。本文回顾了与药物敏感型结核病缩短强化疗程相关的现有证据和指南。
{"title":"Shortened Treatment Regimens for Drug Sensitive TB","authors":"Kamal Kumar Singhal, Milind Shinde","doi":"10.1007/s12098-023-04943-9","DOIUrl":"https://doi.org/10.1007/s12098-023-04943-9","url":null,"abstract":"<p>Tuberculosis (TB) has remained a global health challenge despite the availability of effective anti-tubercular drugs and various treatment strategies. Apart from the complications related to TB disease per se, adverse effects of antitubercular therapy (ATT) also contribute to morbidity. In addition to the adverse effects, the long duration of the treatment regimen also reduces the patient’s acceptability of ATT. The available “short-course treatment regimens” are still relatively long, thereby adversely affecting treatment compliance. There is a need for effective, safe, short and intensive regimens for TB which can reduce the treatment cost and adverse effects, thereby improving its acceptance. With the emergence of new evidence, the World Health Organization (WHO) has recently endorsed 4 mo short duration ATT regimen for non-severe, drug-sensitive cases of tuberculosis. Even in severe forms of disease like tubercular meningitis (TBM), trials are underway evaluating efficacy and safety of shorter regimens. Inclusion of fluroquinolones and rifapentine help shorten the regimens. These shortened regimens, however, need more close monitoring for adverse effects and may need to be converted to longer course if there is inadequate clinical response. Thus, shorter regimens for pediatric TB are likely to not only decrease the burden on patients and healthcare but also improve compliance and lower the side effects of the drugs due to prolonged exposure. This article reviews the current evidence and the guidelines pertaining to the shortened, intensive regimens for drug-sensitive tuberculosis.</p>","PeriodicalId":22491,"journal":{"name":"The Indian Journal of Pediatrics","volume":"23 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138681620","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 : 2023-12-14DOI: 10.1007/s12098-023-04969-z
Anshula Tayal, S. K. Kabra
Some individuals exposed to Mycobacterium tuberculosis develop a latent infection and remain at a lifelong risk of developing tuberculosis (TB) disease, a state called as TB infection (TBI). TB preventive treatment (TPT) aims to treat TBI and prevent progression to active TB in an exposed or infected person. Currently, it is not possible to confirm TBI microbiologically, but can be identified indirectly by means of immune-based tests [Tuberculin skin test (TST), interferon-gamma release assays (IGRAs)]. It is crucial to rule out active TB before initiating TPT. TPT regimens have evolved with time. The most widely used regimen is 6 mo of daily Isoniazid (INH) (6H). Another regime in pipeline for persons >2 y, but not yet widely available, is 3HP (3 mo of weekly Isoniazid and Rifapentine). TPT to contacts of drug resistant TB (DR-TB) patients needs to be tailored depending on the resistance pattern in the index case, and relies on a bacteriological confirmation of the same. Individuals receiving TPT should be closely monitored for emergence of any signs or symptoms suggestive of active TB disease while on TPT.
{"title":"Tuberculosis Preventive Treatment","authors":"Anshula Tayal, S. K. Kabra","doi":"10.1007/s12098-023-04969-z","DOIUrl":"https://doi.org/10.1007/s12098-023-04969-z","url":null,"abstract":"<p>Some individuals exposed to <i>Mycobacterium tuberculosis</i> develop a latent infection and remain at a lifelong risk of developing tuberculosis (TB) disease, a state called as TB infection (TBI). TB preventive treatment (TPT) aims to treat TBI and prevent progression to active TB in an exposed or infected person. Currently, it is not possible to confirm TBI microbiologically, but can be identified indirectly by means of immune-based tests [Tuberculin skin test (TST), interferon-gamma release assays (IGRAs)]. It is crucial to rule out active TB before initiating TPT. TPT regimens have evolved with time. The most widely used regimen is 6 mo of daily Isoniazid (INH) (6H). Another regime in pipeline for persons >2 y, but not yet widely available, is 3HP (3 mo of weekly Isoniazid and Rifapentine). TPT to contacts of drug resistant TB (DR-TB) patients needs to be tailored depending on the resistance pattern in the index case, and relies on a bacteriological confirmation of the same. Individuals receiving TPT should be closely monitored for emergence of any signs or symptoms suggestive of active TB disease while on TPT.</p>","PeriodicalId":22491,"journal":{"name":"The Indian Journal of Pediatrics","volume":"101 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138629647","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 : 2023-12-12DOI: 10.1007/s12098-023-04927-9
Rochelle Natasha Gomes, Ramesh Bhat Y, Sandesh Kini, Pushpa G Kini, A Shrikiran, CM Suneel
Objectives
To study the clinical profile and role of metabolic evaluation in children aged 3 mo to 2 y with global developmental delay (GDD) of unclear etiology.
Methods
In this prospective study, demographic and clinical data along with first line metabolic test results [blood glucose, arterial blood sample analysis, renal function tests, uric acid, serum electrolytes, liver function tests (LFTs), plasma ammonia, arterial blood lactate and pyruvate, urine ketone/ reducing substances] were documented and analyzed. Tandem Mass Spectroscopy (TMS) and Gas Chromatography and Mass Spectrometry (GC-MS) data were also analysed.
Results
Of 101 eligible children, 48 were excluded. Among 53 children included in the study, 32 (60.3%) were less than 1 y and 21 (39.7%) were more than 1 y. Four major developmental domains were almost equally affected in 16 (30.1%), three domains in 4 (7.5%) and two domains in 33 (62.4%) children. Fourteen (26.4%) children were found to have a probable metabolic disorder based on initial tests- 10 mitochondrial disorders, 3 organic-acidemias and 1 fatty-acid-oxidation defect. Further, on TMS and GC-MS tests, 11 (20.7%) had a metabolic disorder- 7 mitochondriopathies, 2 methylmalonic-aciduria, 1 each with glutaric-acidemia and ethylmalonic-aciduria.
Conclusions
Among children with GDD of unclear etiology, metabolic errors constitute a small proportion of etiology. In this group early metabolic tests could identify potentially treatable conditions.
{"title":"Metabolic Evaluation in Children aged 3 months to 2 years with Global Developmental Delay","authors":"Rochelle Natasha Gomes, Ramesh Bhat Y, Sandesh Kini, Pushpa G Kini, A Shrikiran, CM Suneel","doi":"10.1007/s12098-023-04927-9","DOIUrl":"https://doi.org/10.1007/s12098-023-04927-9","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Objectives</h3><p>To study the clinical profile and role of metabolic evaluation in children aged 3 mo to 2 y with global developmental delay (GDD) of unclear etiology.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>In this prospective study, demographic and clinical data along with first line metabolic test results [blood glucose, arterial blood sample analysis, renal function tests, uric acid, serum electrolytes, liver function tests (LFTs), plasma ammonia, arterial blood lactate and pyruvate, urine ketone/ reducing substances] were documented and analyzed. Tandem Mass Spectroscopy (TMS) and Gas Chromatography and Mass Spectrometry (GC-MS) data were also analysed.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Of 101 eligible children, 48 were excluded. Among 53 children included in the study, 32 (60.3%) were less than 1 y and 21 (39.7%) were more than 1 y. Four major developmental domains were almost equally affected in 16 (30.1%), three domains in 4 (7.5%) and two domains in 33 (62.4%) children. Fourteen (26.4%) children were found to have a probable metabolic disorder based on initial tests- 10 mitochondrial disorders, 3 organic-acidemias and 1 fatty-acid-oxidation defect. Further, on TMS and GC-MS tests, 11 (20.7%) had a metabolic disorder- 7 mitochondriopathies, 2 methylmalonic-aciduria, 1 each with glutaric-acidemia and ethylmalonic-aciduria.</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>Among children with GDD of unclear etiology, metabolic errors constitute a small proportion of etiology. In this group early metabolic tests could identify potentially treatable conditions.</p>","PeriodicalId":22491,"journal":{"name":"The Indian Journal of Pediatrics","volume":"28 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138576862","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 : 2023-12-12DOI: 10.1007/s12098-023-04928-8
Anand Prahalad Rao, Debasis Patro
Besides genetic susceptibility, infections due to viruses, bacteria and protozoa have been implicated in the development of autoimmune diseases (AD). AD can be triggered in a genetically susceptible individual by infections that disrupt immunological tolerance towards self-antigens. Pathogens can initiate autoimmunity by way of molecular mimicry, bystander activation, epitope spreading or persistent infection with polyclonal activation. This review covers two main topics: (i) the mechanisms by which an infectious agent can trigger or worsen autoimmunity; and (ii) the correlation between specific infectious agents and AD in humans with special emphasis on multisystem inflammatory syndrome in children (MIS-C).
除遗传易感性外,病毒、细菌和原生动物感染也与自身免疫性疾病(AD)的发生有关。感染会破坏人体对自身抗原的免疫耐受,从而诱发自身免疫性疾病。病原体可通过分子模仿、旁观者激活、表位扩散或多克隆激活的持续感染等方式引发自身免疫。本综述涵盖两个主要议题:(i) 感染病原体引发或加重自身免疫的机制;(ii) 特定感染病原体与人类 AD 之间的相关性,特别强调儿童多系统炎症综合征(MIS-C)。
{"title":"The Intricate Dance of Infections and Autoimmunity: An Interesting Paradox","authors":"Anand Prahalad Rao, Debasis Patro","doi":"10.1007/s12098-023-04928-8","DOIUrl":"https://doi.org/10.1007/s12098-023-04928-8","url":null,"abstract":"<p>Besides genetic susceptibility, infections due to viruses, bacteria and protozoa have been implicated in the development of autoimmune diseases (AD). AD can be triggered in a genetically susceptible individual by infections that disrupt immunological tolerance towards self-antigens. Pathogens can initiate autoimmunity by way of molecular mimicry, bystander activation, epitope spreading or persistent infection with polyclonal activation. This review covers two main topics: (i) the mechanisms by which an infectious agent can trigger or worsen autoimmunity; and (ii) the correlation between specific infectious agents and AD in humans with special emphasis on multisystem inflammatory syndrome in children (MIS-C).</p>","PeriodicalId":22491,"journal":{"name":"The Indian Journal of Pediatrics","volume":"99 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138576897","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}
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disorder due to mutations in the ASAH1 gene. SMA-PME is characterized by progressive muscle weakness from three to seven years of age, drug refractory epilepsy, and variable degree of cognitive decline. Nearly 50 cases have been reported worldwide so far. Here the authors present a case of 9-y-old boy affected by SMA-PME characterized by progressive proximal weakness, and lower motor neuron disease, as proven by muscle biopsy, electro diagnostic studies and whole exome sequencing (WES). WES revealed compound heterozygous missense variant in exon 12 of ASAH1 gene (chr8: g.18059385G>C) and exon 2 of ASAH1 gene (chr8: g.18075542T>C). Patient did not have cognitive decline and epilepsy and EEG record obtained was normal. In addition to reporting a novel variant in the ASAH1 gene causing SMA-PME disease, this paper discusses previous reports and literature of the disease.
{"title":"ASAH1 Variants Causing Spinal Muscular Atrophy Phenotype","authors":"Arvinder Wander, Ankit Kumar Meena, Pawan Kumar Ghangoriya, Biswaroop Chakrabarty, Prashant Jauhari, Sheffali Gulati","doi":"10.1007/s12098-023-04957-3","DOIUrl":"https://doi.org/10.1007/s12098-023-04957-3","url":null,"abstract":"<p>Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disorder due to mutations in the <i>ASAH1</i> gene. SMA-PME is characterized by progressive muscle weakness from three to seven years of age, drug refractory epilepsy, and variable degree of cognitive decline. Nearly 50 cases have been reported worldwide so far. Here the authors present a case of 9-y-old boy affected by SMA-PME characterized by progressive proximal weakness, and lower motor neuron disease, as proven by muscle biopsy, electro diagnostic studies and whole exome sequencing (WES). WES revealed compound heterozygous missense variant in exon 12 of <i>ASAH1</i> gene (chr8: g.18059385G>C) and exon 2 of <i>ASAH1</i> gene (chr8: g.18075542T>C). Patient did not have cognitive decline and epilepsy and EEG record obtained was normal. In addition to reporting a novel variant in the <i>ASAH1</i> gene causing SMA-PME disease, this paper discusses previous reports and literature of the disease.</p>","PeriodicalId":22491,"journal":{"name":"The Indian Journal of Pediatrics","volume":"96 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138569175","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}