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1.
Eur J Gastroenterol Hepatol ; 33(4): 595-596, 2021 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-33657606
2.
BMJ Case Rep ; 14(3)2021 Mar 04.
Artículo en Inglés | MEDLINE | ID: mdl-33664026

RESUMEN

Iron deficiency anaemia is a known complication of a large hiatal hernia in adults. It occurs as a result of erosions on the gastric mucosa secondary to traction at the hiatus during respiration and/or gastric acid-related injuries to the mucosa. Even though anaemia occurs as a result of chronic gastrointestinal blood loss, testing for faecal occult blood is often negative and upper gastrointestinal endoscopy normal as the bleeding is intermittent. In children, a hiatus hernia as a rare cause of iron deficiency anaemia and has been described only in case reports. Here, we describe a 5-year-old boy who presented with severe transfusion-dependent iron deficiency anaemia caused by a paraoesophageal hernia. Surgical repair of the hiatus hernia led to complete resolution of anaemia. One should consider a hiatus hernia as a diagnostic possibility when evaluating a child with refractory iron deficiency anaemia.

6.
Ther Drug Monit ; Publish Ahead of Print2020 Dec 17.
Artículo en Inglés | MEDLINE | ID: mdl-33346628

RESUMEN

OBJECTIVES: and study: The utility of measuring thiopurine metabolites (TM) to individualize therapy in autoimmune hepatitis (AIH) has not been defined, and the evidence regarding its use in clinical practice is heterogeneous. This systematic review and meta-analysis aimed to compare the mean concentration of TM between patients in biochemical remission and those not in remission. METHODS: A systematic literature search was conducted using PubMed, Scopus, the Cochrane Library, and Google Scholar for keywords related to TM and AIH. Two reviewers independently searched and selected studies comparing the levels of 6-methyl mercaptopurine (6-MMP) and 6-thioguanine nucleotide (6-TGN) and their ratio in cases of AIH in remission and otherwise. Meta-analysis was performed by calculating the weighted mean difference using the inverse variance heterogeneity model. RESULTS: A total of 1066 records were identified through systematic search, of which 7 (n = 3 pediatric, n = 4 adults) were considered for inclusion and 442 TM measurements (n = 128 in children) were analyzed. Mean 6-TGN levels were significantly higher among patients in remission than in those who were not, with a pooled weighted mean difference (WMD) of 15.67 [95% confidence interval (CI), 6.68-24.66] pmol/8 × 108 red blood cells (RBC). The difference was higher in the pediatric age group [WMD 56.11, 95% CI: 13.60-98.62] than in adults [WMD 13.77, 95% CI: 4.58-22.97]. There was no significant difference in the 6-MMP levels (WMD -431.7, 95% CI:-1237.4-373.9 pmol/8 × 108 RBC, I2 = 82%, n = 3 studies) or 6-MMP/6-TGN ratio among the patients who were in biochemical remission and those who were not (WMD -0.97, 95% CI: -5.77-3.84, I2 = 82%, n = 3 studies]. CONCLUSIONS: This meta-analysis suggests a link between 6-TGN levels and biochemical remission in AIH. Further high-quality studies are required to determine the therapeutic cut-off of 6-TGN.

7.
J Paediatr Child Health ; 56(11): 1708-1718, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-33197982

RESUMEN

Constipation is a common problem in childhood. The most common type of constipation is functional, accounting for 90-95% of all cases. The aim of this review is to provide clinical scenarios with treatment using evidence-based information, and management strategies and a clinical algorithm to guide the management of constipation in children. Recent guidelines and online information sites are detailed. Clinical red flags and organic causes of constipation are included. Four clinical scenarios are presented: case (1) 4-month-old child with constipation since birth and likely Hirschsprung disease; case (2) 6-month-old infant with infant dyschezia; case (3) 4-year old with functional constipation; and; case (4) 9-year old with treatment resistant constipation. Children with functional constipation need a thorough history and physical exam to rule out the presence of any 'red flags' but do not require laboratory investigations. Management includes education and demystification, disimpaction followed by maintenance therapy with oral laxatives, dietary counselling and toilet training. Treatment options differ between infants and children. Disimpaction and maintenance regimens for common laxatives are presented. On treatment failure or on suspicion of organic disease the patient should be referred for further evaluation. The radionuclide intestinal transit study (scintigraphy) is a useful modality for evaluation and planning of management in treatment-resistant children. Treatment options for treatment-resistant patients are presented. High-level evidence (meta-analyses) for pharmalogical and non-pharmalogical treatment modalities are reviewed and an algorithm for assessment and treatment are presented.

8.
ACG Case Rep J ; 7(11): e00476, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-33235886
10.
J Trop Pediatr ; 2020 Oct 22.
Artículo en Inglés | MEDLINE | ID: mdl-33089323

RESUMEN

Primary neuroleptospirosis although rare but has been reported in the literature in the form of case reports and case series. However, there are no reports of autoimmune encephalitis triggered by leptospirosis in the literature, although four cases of acute disseminated encephalomyelitis, which is also considered to have autoimmune etiology have been reported. We are reporting an adolescent girl, who developed anti-N-methyl-d-aspartate receptor encephalitis after the resolution of systemic symptoms of leptospirosis. Her symptoms including neuropsychiatric and extrapyramidal features and sleep disturbances resolved completely after immunotherapy. As recently autoimmune encephalitis triggered by various infections are getting reported more frequently around the world, the clinicians need to consider this clinical possibility, even in patients with leptospirosis, who develop neurological symptoms while systemic clinical features are subsiding. Early recognition and timely administration of immunotherapy have the potential to completely reverse the neurological symptoms.

14.
Eur J Gastroenterol Hepatol ; 32(10): 1305-1311, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32796356

RESUMEN

BACKGROUND: Paediatric inflammatory bowel disease (PIBD) is increasing across the world. However, information from India is sparse. This multicentre study evaluated the demographics, clinical phenotype and outcome of PIBD from India. METHODS: Data of children (≤18 years) with PIBD were collected using a proforma containing details of demographics, clinical profile, extraintestinal manifestations (EIM), investigations, disease extent and treatment. RESULTS: Three hundred twenty-five children [Crohn's disease: 65.2%, ulcerative colitis: 28.0%, IBD unclassified (IBDU): 6.7%, median age at diagnosis: 11 (interquartile range 6.3) years] were enrolled. 6.9% children had family history of IBD. Pancolitis (E4) was predominant in ulcerative colitis (57.8%) and ileocolonic (L3, 55.7%) in Crohn's disease. Perianal disease was present in 10.9% and growth failure in 20.9% of Crohn's disease cases. Steroids were the initial therapy in 84.2%, 5-amino salicylic acid in 67.3% and exclusive enteral nutrition (EEN) in 1.3% cases. Overall, immunomodulators and biologics were given to 84.3 and 17.9% cases, respectively, and 2.9% cases underwent surgery. Very early onset IBD (VEOIBD) was seen in 60 (19.2%) children. IBDU was commoner in the VEOIBD than the older-PIBD (18/60 vs 4/253; P < 0.001). VEOIBD-Crohn's disease patients more often had isolated colonic disease than the older Crohn's disease (45.4% vs 11.8%; P < 0.001). Prevalence of perianal disease, EIM, therapeutic requirements and outcome were not different between VEOIBD and older-PIBD. CONCLUSION: Disease location and phenotype of PIBD in Indian children is similar to the children from the west. However, the therapeutic options of EEN, biologics and surgery are underutilized. VEOIBD accounted for 19.2% of PIBD.

15.
18.
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.

20.
Am J Trop Med Hyg ; 103(2): 851-854, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32372748

RESUMEN

Dengue fever continues to be an important cause of morbidity and mortality in tropical and subtropical countries. A wide range of neurological manifestations including dengue encephalopathy, Guillain-Barre syndrome, acute disseminated encephalomyelitis, transverse myelitis, cranial nerve palsies, and myositis have been reported following dengue infection. But parkinsonism secondary to dengue virus infection is uncommon, with only three published case reports in adults and one in children. We describe a 13-year-old pre-morbidly normal boy, who presented with bradykinesia, bradyphonia, mask-like facies, and cogwheel rigidity while recovering from uncomplicated DF. He responded favorably to levodopa/carbidopa supplementation and had resolution of symptoms over the next 2 weeks. We also did a comparative review of all published cases of dengue-induced parkinsonism. Post-dengue, parkinsonism is uncommon, and treating clinicians should be aware of this uncommon but treatable neurological complication of a common arboviral infection.


Asunto(s)
Dengue/complicaciones , Enfermedad de Parkinson Secundaria/etiología , Adolescente , Antiparkinsonianos/uso terapéutico , Encéfalo/diagnóstico por imagen , Carbidopa/uso terapéutico , Imagen de Difusión por Resonancia Magnética , Combinación de Medicamentos , Electroencefalografía , Humanos , India , Levodopa/uso terapéutico , Imagen por Resonancia Magnética , Masculino , Enfermedad de Parkinson Secundaria/diagnóstico por imagen , Enfermedad de Parkinson Secundaria/tratamiento farmacológico , Enfermedad de Parkinson Secundaria/fisiopatología , Resultado del Tratamiento
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