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2.
Indian J Pediatr ; 2021 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-33527338

RESUMEN

OBJECTIVE: To assess the safety of centrifugal therapeutic plasma exchange (TPE) in pediatric patients. METHODS: The authors did a retrospective analysis of all TPE procedures performed in pediatric patients over a period of 19 y (2001-2019). Procedures were done on different apheretic devices, daily or on alternate days depending on the clinical condition of the patient. Adverse events during the procedure were noted and analyzed. RESULTS: A total of 672 TPE (with mean of 6.77 ± 4.85) procedures were performed for 99 pediatric patients with different indications like hematological (n = 68), renal (n = 12), neurology (n = 18) and hepatology (n = 1). The mean age was 7.00 ± 3.11 y and weight was 20.72 ± 9.17 kg. Adverse events (AEs) were observed during 34 (5%) procedures, most common were allergic reactions to replacement fluid (2.24%) followed by hypotension (1.04%), symptomatic hypocalcemia (1.04%), line occlusion (0.59%), and febrile non hemolytic transfusion reaction (0.41%). A significant correlation of AEs was observed with weight (p = 0.045), total blood volume of the patient (p = 0.04), increasing number of procedures (p = 0.000) and replacement fluid [Fresh frozen plasma (FFP)] (p = 0.04). All AEs were managed as per departmental standard operating procedures (SOPs) completing procedures successfully except one which was abandoned. No mortality was observed during the procedures. CONCLUSION: TPE is a safe therapeutic modality in pediatric patients when performed under expert technical supervision with proper SOPs in place.

3.
CEN Case Rep ; 10(2): 255-260, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33386505

RESUMEN

Hemolytic uremic syndrome (HUS), a cause of pediatric acute kidney injury (AKI), has a spectrum of extra-renal manifestations. While neurological and gastrointestinal system involvement is common, cardiac involvement is rare. This is more so with pericardial involvement, though it has been reported in a handful of HUS cases associated with shiga toxin-producing Escherichia coli (STEC HUS). However, this complication has scarcely been reported in atypical HUS (aHUS) where there is alternate complement abnormality or DKGE (diacylglycerol kinase epsilon) mutation. We describe two children diagnosed with anti-complement factor H (CFH) antibody-associated aHUS who had pericardial involvement. Two boys, one 10-year-old and another 8-year-old, presented with pallor, oliguria and hypertension. They both had microangiopathic haemolytic anemia, thrombocytopenia and AKI suggestive of HUS. Complement workup revealed elevated anti-CFH antibody titres. With a diagnosis of anti-CFH antibody aHUS, they were started on plasmapheresis, pulse methylprednisolone and cyclophosphamide. The first case developed cardiac tamponade during the second week of hospital stay for which he needed pigtail drainage and further immunosuppression with rituximab. He gradually improved and pigtail was removed. The second case presented with pericardial effusion which subsequently resolved during the course of treatment. Thus, our patients developed pericardial effusion, with one of them progressing to life-threatening cardiac tamponade. Therefore, it is prudent that we are aware of this complication while treating children with aHUS.

4.
Seizure ; 85: 119-126, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33461030

RESUMEN

BACKGROUND: Dravet syndrome (DS) is an infantile-onset developmental and epileptic encephalopathy syndrome with limited treatment options. We aimed to evaluate the efficacy and tolerability of fenfluramine in patients with Dravet syndrome using meta-analytical techniques. METHODS: We searched for relevant randomized controlled trials and non-randomized studies involving children with Dravet syndrome on fenfluramine therapy in MEDLINE, CENTRAL, EMBASE, Google Scholar and Web of Science database (31 July 2020). The primary outcome for the efficacy of fenfluramine was reduction in monthly convulsive seizure frequency. We carried out a random effect meta-analysis focusing on efficacy and safety variables. Only Randomized Controlled Trials (RCT) were included in the meta-analysis. The risk of bias was assessed for each study, and GRADE was used to assess the quality of evidence for each outcome. RESULTS: Of 61 publications initially screened, 12 were reviewed as full-text. Seven articles including 2 RCTs, 4 uncontrolled studies (3 prospective and one retrospective study), and one case report described responses to fenfluramine in 144 DS patients (54 % male, mean age of 8.8 years, median dose of 0.4 mg/kg/day). Fenfluramine was found to be more efficacious than placebo, in terms of mean convulsive and total seizure frequency reduction (mean difference: -45.3 % (95 % CI: -48.1 %, -42.4 %, p < 0.00001) and -39.7 % (-46.7 %, -32.7 %, p < 0.00001)). A greater proportion of patients in the fenfluramine arm achieved >25 %, >50 %, >75 % and 100 % seizure reductions (odds ratios: 6.5 (3.7, 11.5, p < 0.00001), 10.6 (5.3, 21.3, p < 0.00001), 22.7(6.9, 75.3, p < 0.00001) and 9.3(1.7, 51.4, p = 0.01) respectively). The incidence of serious adverse events was not greater in the fenfluramine groups (OR: 1.02 (0.5, 2.19, p = 0.96)). CONCLUSION: Fenfluramine appears to be a safe and efficacious antiseizure medication in patients with Dravet syndrome.

6.
Clin Exp Nephrol ; 2020 Oct 06.
Artículo en Inglés | MEDLINE | ID: mdl-33025232

RESUMEN

BACKGROUND: Non-syndromic congenital anomalies of kidney and urinary tract (CAKUT) are usually sporadic in nature but familial clustering of cases have been observed suggesting a genetic predisposition to this condition. We aimed to determine the frequency and pattern of renal anomalies in first-degree relatives of children with non-syndromic CAKUT. METHODS: We screened all the first-degree relatives of children with CAKUT. A total of 149 first-degree relatives, belonging to 62 families were screened with ultrasonography. RESULTS: A renal anomaly was detected in 9 out of the 62 families. Two of these nine families had identical anomalies (child and a parent) indicating single-gene disorders with possible autosomal dominant inheritance, while the rest of families had a non-identical anomaly. The anomalies detected in the first-degree relatives were renal hypodysplasia (n = 2), multicystic dysplastic kidney (n = 3), pelviureteric junction obstruction (n = 2) and mild hydronephrosis (n = 2). The incidence of a sonographically detected anatomic renal anomaly in first-degree relatives of children with CAKUT was found to be 6.0%. Familial cystic kidney disease was found in two out of the 4 families with cystic kidney disease. CONCLUSION: Significant renal anomalies were identified in first-degree relatives of children with non-syndromic CAKUT and hence, attempts must be made to screen the family members of children with non-syndromic CAKUT.

7.
Neuropediatrics ; 2020 Oct 27.
Artículo en Inglés | MEDLINE | ID: mdl-33111303

RESUMEN

BACKGROUND: In recent years, many new candidate genes are being identified as putative pathogenic factors in children with developmental delay and autism. Recently, heterozygous mutations in the KMT2E gene have been identified as a cause of a unique neurodevelopmental disorder with variable combination of global developmental delay or isolated speech delay, intellectual disability, autistic features, and seizures. METHODS: Here, we present two new cases of KMT2E mutation-associated neurodevelopmental disorder in a 4-year-old girl and 5-year-old boy. We also performed a pooled review of the previously published cases of KMT2E-related neurodevelopmental disorder. Articles were identified through search engines using appropriate search terms. RESULTS: Along with the presented 2 cases, 40 cases were analyzed. Out of them, 30, 6, and 4 children had protein-truncating mutations, missense mutations, and copy number variants, respectively. The common features were global developmental delay (97%) followed by macrocephaly (35%), seizures (30%), and autism (25%). Children with missense variants had severe phenotype, with microcephaly, profound developmental delay, and increased frequency of seizures. Neuroimaging revealed nonspecific changes, including cerebral white matter signal abnormalities. CONCLUSION: KMT2E-related neurodevelopmental disorder remains one of the clinical differentials in children with global developmental delay and/or autistic features/seizure. With the reporting of more cases in the future, the already heterogeneous clinical spectrum of this disease is likely to be widened.

8.
J Trop Pediatr ; 2020 Sep 10.
Artículo en Inglés | MEDLINE | ID: mdl-32910826

RESUMEN

BACKGROUND: Knowledge about neurological complications of COVID-19 in children is limited due to the paucity of data in the existing literature. Some systematic reviews are available describing overall clinical features of COVID-19 in children and neurological complications of COVID-19 in adults. But to the best of our knowledge, no systematic review has been performed to determine neurological manifestations of COVID-19. METHODS: Six different electronic databases (MEDLINE, EMBASE, Web of Science, CENTRAL, medRxiv and bioRxiv) were searched for articles related to COVID-19 and neurological complications in children. Studies/case series reporting neurological manifestations of COVID-19 in patients aged ≤18 years, as well as case reports, as neurological complications appear to be rare. The pooled estimate of various non-specific and specific neurological manifestations was performed using a random effect meta-analysis. RESULTS: Twenty-one studies/case series and five case reports (3707 patients) fulfilled the eligibility criteria and were included in this systematic review, from a total of 460 records. Headache, myalgia and fatigue were predominant non-specific neurological manifestations, presenting altogether in 16.7% cases. Total of 42 children (1%) were found to have been reported with definite neurological complications, more in those suffering from a severe illness (encephalopathy-25, seizure-12, meningeal signs-17). Rare neurological complications were intracranial hemorrhage, cranial nerve palsy, Guillain-Barré syndrome and vision problems. All children with acute symptomatic seizures survived suggesting a favorable short-term prognosis. CONCLUSION: Neurological complications are rare in children suffering from COVID-19. Still, these children are at risk of developing seizures and encephalopathy, more in those suffering from severe illness.

9.
Immunobiology ; 225(5): 152000, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32962820

RESUMEN

Atypical hemolytic uremic syndrome (aHUS) is caused mainly by complement dysregulation. Although various defects in the complement system explaining pathophysiology have been described in recent years, the etiology still remains unclear in about thirty percent of cases. In exploring other causes, similar to anti- complement factor H (anti-CFH) antibody associated HUS, we hypothesized that anti-complement factor I (anti-CFI) antibody could play a role in aHUS. Further, we tried to describe the clinical profile and outcome of those with high anti CFI antibody titers. Eleven of thirty five children (31 %) diagnosed with aHUS from July 2017 to December 2018 had high IgG anti-CFI antibody titers. Median age was 10 months (6, 33) with no sex difference. Thirty-six percent (4/11) had nephrotic-range proteinuria. C3 was low in 8 children (72.7 %) with mean C3 (68.1 ±â€¯14.7 mg/dL). Plasmapheresis was done in 2 children who promptly responded, suggesting the possible role of anti-CFI antibody in pathogenesis of aHUS in these patients. Further studies examining role of anti-CFI antibodies in aHUS is warranted with longitudinal and genetic studies.

11.
Int J Lab Hematol ; 2020 Aug 27.
Artículo en Inglés | MEDLINE | ID: mdl-32851810

RESUMEN

INTRODUCTION: Presence of schistocytes in peripheral blood smear supporting haemolysis is important for diagnosis and decision-making in paediatric haemolytic uraemic syndrome (HUS). High observer dependency and requirement of expertise for peripheral smear evaluation propels us to think of other modalities to overcome these issues. We envisage that newer techniques like automated fragmented red blood cell percentage (FRC %), whose role has been described in transplant associated HUS and thrombotic thrombocytopenic purpura, can serve the purpose. METHODS: Twenty-eight children with HUS after excluding secondary causes were enrolled in this study. Blood samples were analysed for FRC% at admission, using SYSMEX XN-1000 (Japan) haematology analyser, and simultaneously, schistocytes in peripheral smear were reported by a single expert haematopathologist. RESULTS: Median age was 56 months ranging from 2 to 140 months. FRC% was elevated in 85.8% (n-24/28) with a mean of 4.56 ± 3.1%. FRC% had a sensitivity of 95.4% (C.I: 77.16% to 99.88%) in children who had FRC% >1.49% with an accuracy of 85.71% (C.I: 67.33% to 95.97%). However, specificity was only 50% (C.I: 11.81% to 88.19%) with a positive likelihood ratio of 1.91. Receiver-operator curve showed an AUC value of 0.841. CONCLUSION: We suggest automated FRC% as a rapid and highly sensitive index for screening of paediatric HUS; however, a peripheral blood film examination is a must in cases with count >2% to avoid false positives as the index has low specificity.

12.
Seizure ; 81: 29-35, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32712376

RESUMEN

INTRODUCTION: The ongoing COVID-19 pandemic and the lockdown measures employed by the government have forced neurologists across the world to look upon telemedicine as the only feasible and practical option to continue providing health care towards children with epilepsy in home isolation. Children with epilepsy are challenging for teleconsultation as direct information from the patient is missing, regarding seizures and adverse effects, especially behavioral and psychological side effects. METHODS: Clinical and epilepsy-related details of telephonic consultations for children 1 month-18 years, performed between 26th March and 17th May 2020 in a tertiary care teaching hospital in Uttarakhand (a state of India known for hilly terrains with low per capita income) were recorded. Suitable changes in the dose/commercial brand of antiepileptic drug (AED) regimen were performed, along with the addition of new AED and referral to local practitioners for immediate hospitalization, when urgent health care issues were detected. Voice call, text message, picture/video message, and all other possible measures were employed to accumulate maximum clinical information in real-time. RESULTS: A total of 153 children(95 males [62 %], 9.45 ±â€¯3.24 years, 140 lower/middle socioeconomic status) were enrolled after screening 237 children with various neurological disorders, whose caregivers contacted for teleconsultation. A total of 278 telephone consultations performed for these 153 children (1-5 telephone calls per patient). Hundred-thirteen children were identified to have a total of 152 significant clinical events (breakthrough seizure/uncontrolled epilepsy (108), AED related (13), and unrelated systemic adverse effects (24), worsening of associated co-morbidities (7). In rest of the patients, the query of the caregiver included unavailability of AED/prescribed commercial brand in the locality, query related to the dose of drugs, proxy for a scheduled routine visit (no active issues), and concern regarding COVID-19 related symptoms and effect of COVID-19 and lockdown in children with epilepsy. Ninety-three (60 %) patients required hiking up of AED dose, whereas 29 (17 %) patients required the addition of a new AED/commercial brand. Five children were advised immediate admission to a nearby hospital. Overall, 147 (96 %) caregivers were satisfied with the quality of medical advice. CONCLUSION: Teleconsultation is one of the few feasible options with good effectiveness for providing medical advice to children with epilepsy during pandemic times.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Infecciones por Coronavirus , Epilepsia/tratamiento farmacológico , Pandemias , Neumonía Viral , Telemedicina/métodos , Adolescente , Betacoronavirus , Niño , Preescolar , Manejo de la Enfermedad , Estudios de Factibilidad , Femenino , Recursos en Salud , Hospitalización , Hospitales de Enseñanza , Humanos , India , Lactante , Masculino , Neurología , Derivación y Consulta , Consulta Remota , Teléfono , Centros de Atención Terciaria , Envío de Mensajes de Texto , Comunicación por Videocoferencia
13.
Brain Dev ; 42(9): 646-654, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32600841

RESUMEN

BACKGROUND: In the last two decades, with the advent of whole-exome and whole-genome sequencing, supplemented with linkage analysis, more than 150 genes responsible for X-linked intellectual disability have been identified. Some genes like NEXMIF remain an enigmatic entity, as often the carrier females show wide phenotypic diversity ranging from completely asymptomatic to severe intellectual disability and drug-resistant epilepsy. METHODS: We report three patients with pathogenic NEXMIF variants from an Indian family. All of them had language predominant developmental delay and later progressed to moderate intellectual disability with autistic features. We also reviewed the previously published reports of patients with pathogenic NEXMIF variants. RESULTS: Together with the presented cases, 45 cases (24 symptomatic females) were identified from 15 relevant research items for analysis. Males have demonstrated a more severe intellectual disability and increasingly delayed walking age, autistic features, central hypotonia, and gastroesophageal reflux. In contrast, females have shown a predominant presentation with drug-resistant epilepsy and mild to moderate intellectual impairment. Notably, the affected females demonstrate a higher incidence of myoclonic, absence, and atonic seizures. The majority of the variants reported are nonsense or frameshift mutations, causing loss of function of the NEXMIF gene, while a considerable proportion possesses chromosomal translocations, microdeletions, and duplications. CONCLUSIONS: NEXMIF gene mutations should be suspected in all cases of X-linked ID and autism cases in males or even in refractory epilepsy cases in females.

14.
16.
Indian Pediatr ; 57(2): 119-123, 2020 02 15.
Artículo en Inglés | MEDLINE | ID: mdl-32060237

RESUMEN

BACKGROUND: Impulse oscillometry is an effort-independent technique of assessment of airway resistance and reactance, and can be performed in children unable to complete spirometry. OBJECTIVE: To evaluate the utility of impulse oscillometry and spirometry for assessing asthma control in children. STUDY DESIGN: Prospective cohort study. PARTICIPANTS: Children aged 5-15 years, with mild to severe persistent asthma. INTERVENTION: On each 3-monthly follow-up visit, clinical assessment, classification of control of asthma, impulse oscillometry and spirometry were performed. OUTCOME: Utility of impulse oscillometry parameters [impedance (Z5), resistance (R5), reactance (X5) at 5 Hz, and R5-20 (resistance at 20Hz -5Hz) (% predicted), and area of reactance (AX, actual values)] and FEV1 (% predicted) to discriminate between controlled and uncontrolled asthma was assessed by receiver operating characteristic (ROC) curve. Association of FEV1 and impulse oscillometry parameters over time with controlled asthma was evaluated by generalized estimating equation model. RESULTS: Number of visits in 256 children [mean (SD) age, 100 (41.6) mo; boys: 198 (77.3%)], where both impulse oscillometry and spirometry were performed was 2616; symptoms were controlled in 48.9% visits. Area under the curve for discrimination between controlled and uncontrolled asthma by FEV1, AX, R5-20, Z5, R5, and X5 were 0.58, 0.55, 0.55, 0.52, 0.52 and 0.52, respectively. FEV1 [OR (95% CI): 1.02 (1.01-1.03)] and AX [OR (95% CI): 0.88 (0.81-0.97)] measured over the duration of follow-up were significantly associated with controlled asthma. CONCLUSIONS: Spirometry and impulse oscillometry parameters are comparable in ascertaining controlled asthma. Impulse oscillometry being less effort-dependent may be performed for monitoring control of childhood asthma, especially in younger children.

17.
Indian J Nephrol ; 30(1): 32-34, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32015598

RESUMEN

Chylothorax is an uncommon presentation of venous thrombosis in nephrotic syndrome. We present a case of an 8-year-old boy with nephrotic syndrome who presented with prolonged respiratory difficulty and dry cough. A detailed evaluation revealed left chylothorax secondary to thrombosis of the left brachiocephalic vein. He improved with conservative management including anticoagulation therapy, intercostal chest tube drainage, and dietary modification. This case highlights the need to consider venous thrombosis as a cause of chylothorax in patients with nephrotic syndrome to institute appropriate treatment.

18.
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