Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 84
Filtrar
1.
Dig Liver Dis ; 2024 Feb 29.
Artigo em Inglês | MEDLINE | ID: mdl-38429139

RESUMO

BACKGROUND: Ascites in children is multifactorial and serum ascites albumin gradient (SAAG) ≥1.1 helps differentiate portal hypertension (PHTN) related from non-PHTN ascites. AIMS: We evaluated the aetiology and diagnostic accuracy of SAAG in children with ascites. METHODS: Children with ascites were retrospectively evaluated. Etiological diagnosis was based on clinical presentation and investigations. All cases with ascitic fluid analysis and a definite diagnosis were included for calculating the utility of SAAG. RESULTS: We enrolled 878 children (568[64.7%] boys). Majority were PHTN related (638[72.7%]) and secondary to acute viral hepatitis (98,15.4%), acute liver failure (185,29%), chronic liver disease (276,43.3%) and Budd-Chiari syndrome (79,12.4%). Other causes included tubercular (46,5.2%), pancreatic (32,3.6%), chylous (20,2.3%), biliary (12,1.4%), pseudoascites (16,1.8%), infections (46,5.2%), nephrotic (26,2.9%), malignancy (23,2.6%), cardiac (9,1.0%) and others (10,1%). SAAG (n = 305) correctly differentiated PHTN and non-PHTN ascites in 272 (89.2%) cases, with a high sensitivity (97%), specificity (93%) and diagnostic accuracy (95.8%). Reasons for inaccurate SAAG included mixed ascites (n = 9), different day serum and ascitic fluid albumin estimation (n = 5), serum albumin ≤1.1 g/dL (n = 2), chylous ascites (n = 3), hypergammaglobulinemia (n = 1), albumin infusions (n = 1) and unexplained (n = 12). CONCLUSIONS: Nearly 27% children had non-PHTN related ascites. SAAG differentiates PHTN from non-PHTN ascites with a diagnostic accuracy of 95%.

2.
J Pediatr Gastroenterol Nutr ; 78(1): 17-26, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38291698

RESUMO

OBJECTIVES: Radiological intervention (RI) is the preferred treatment in children with Budd-Chiari syndrome (BCS). We studied the comparative long-term outcome of BCS children, with and without RI and utility of liver and splenic stiffness measurement (LSM, SSM) by 2-dimensional shear wave elastography (2D-SWE) in assessing response. METHODS: Sixty children (40 boys, median age 10.5 [6.5-15.25] years) with BCS (29 newly diagnosed, 31 follow-up) were evaluated. LSM and SSM by 2D-SWE and vascular patency were monitored pre- and postprocedure (≥ 6 months postprocedure) in those undergoing RI. Medical therapy without anticoagulation and monitoring was done in subjects without RI. The RI and no-RI groups were compared. RESULTS: Ascites (54,90%), hepatomegaly (56,93%) and prominent abdominal-veins (42,70%), were the commonest features. The majority (46,78%) had isolated hepatic vein block. 44 (73%) cases underwent RI, while 16 (27%) were managed conservatively. Both groups were similar at baseline. Post-RI subjects showed significant improvement in clinical findings, liver functions and portal hypertension. LSM [33 (32-34.5) to 19.2 (18-20.67) kPa] and SSM [54.5 (52.3-57.6) to 28.9 (27.6-30.25) kPa] showed a significant decline from baseline value over a follow-up of 12 (6-13) months. Gradual reduction occurred in the LSM and SSM over 1-5 years, with near-normal LSM [10.2 (9.2-11.5) kPa] and SSM [22.3 (20.5-24.3) kPa] values in patients (n-16) with > 5 years follow-up. Patients without RI showed worsening in LSM and SSM. Hepatopulmonary syndrome and hepatocellular carcinoma developed in 4 (8%) and 1 (1.7%) cases respectively. CONCLUSION: RI leads to clinical recovery and reduction with near normalization of LSM and SSM over long-term follow-up in children with BCS. 2D-SWE is a promising tool to monitor outcomes.


Assuntos
Síndrome de Budd-Chiari , Técnicas de Imagem por Elasticidade , Hipertensão Portal , Neoplasias Hepáticas , Masculino , Criança , Humanos , Síndrome de Budd-Chiari/diagnóstico por imagem , Síndrome de Budd-Chiari/terapia , Técnicas de Imagem por Elasticidade/métodos , Fígado/patologia , Hipertensão Portal/patologia , Neoplasias Hepáticas/patologia , Cirrose Hepática/patologia
5.
J Clin Exp Hepatol ; 13(6): 997-1007, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37975042

RESUMO

Background: This exclusively surgical series on pediatric extrahepatic portal venous obstruction (EHPVO) defines surgical indications beyond endoscopic eradication of esophageal varices (EEEV), the selection of an appropriate surgical procedure, and the long-term post-surgical outcome. Methods: EHPVO management protocol at the reporting institute has been endotherapy until esophageal variceal eradication and surgery for select adverse sequelae manifesting after EEEV. Results: One hundred and thirty-nine EHPVO cases underwent surgery for the following indications in combination: i) massive splenomegaly with severe hypersplenism (n = 132, 95%); ii) growth retardation (GR, n = 95, 68%); iii) isolated gastric (IGV) and ectopic varices (n = 49, 35%); iv) Portal cavernoma cholangiopathy (PCC) (n = 07, 5%). A portosystemic shunt (PSS) was performed in 119 (86%) cases. Types of PSS performed were as follows: central end-to-side splenorenal shunt with splenectomy (n = 104); side-to-side splenorenal shunt (n = 4); mesocaval shunt (n = 1); inferior mesenteric vein (IMV) to left renal vein shunt (n = 2); IMV to inferior vena cava shunt (n = 3); H-graft interposition splenorenal shunt (n = 1); spleno-adrenal shunt (n = 3); makeshift shunt (n = 1). Esophagogastric devascularization (n = 20, 14%) was opted for only for non-shuntable anatomy. At a median follow-up (FU) of 41 (range: 6-228) months, PSS block was detected in 13 (11%) cases, with recurrent variceal bleeding in 4 cases. PCC-related cholestasis regressed in 5 of 7 cases. Issues of splenomegaly were resolved, and growth z-scores improved significantly. Conclusions: Endotherapy for secondary prophylaxis until EEEV has resulted in a shift in surgical indications for EHPVO. Beyond EEEV, surgery was indicated predominantly for non-variceal sequelae, namely massive splenomegaly with severe hypersplenism, GR, and PCC. Varices warranted surgery infrequently but more often from sites less amenable to endotherapy, i.e., IGV and ectopic varices. The selection of PSS was tailored to anatomy and surgical indications. On long-term FU post surgery, PSS block was detected in 13% of patients. PCC-related cholestasis regressed in 71%, and issues of splenomegaly resolved with significantly improved growth Z scores.

6.
JPGN Rep ; 4(4): e344, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38034424

RESUMO

Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder presenting with multifocal venous malformations of the skin, soft tissues, and gastrointestinal (GI) tract. Patients usually present with chronic anemia resulting from occult GI bleeding and sometimes with massive GI bleeding. We report 2 children with blue rubber bleb nevus syndrome with GI bleeding: 1 with obscure GI bleeding and the other with overt GI bleeding. In both cases, the presence of cutaneous lesions provided useful clues toward diagnosis. Colonoscopy and upper GI endoscopy revealed bluish polypoidal lesions in the GI tract. Capsule endoscopy helped in disease mapping. Both of them were successfully treated with endoscopic band ligation and nonselective beta-blockers, which resulted in an improvement in their hemoglobin levels. Our cases highlight the successful use of endoscopic band ligation of GI lesions as a therapeutic modality. It is important for gastroenterologists to be aware of this rare condition for current diagnosis.

7.
J Gastroenterol Hepatol ; 38(9): 1610-1617, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37407246

RESUMO

BACKGROUND AND AIM: Portal hypertension determines the outcome of children with biliary atresia (BA) and is common even after a successful Kasai portoenterostomy (KPE). However, there are no clear-cut guidelines on the age of starting surveillance and the modality (endoscopy vs non-invasive tests [NITs]). In this cohort study, we analyzed our database to find out the utility of NITs in detecting high-risk esophageal varices in BA. METHODS: From June 2010 to May 2022, consecutive children of BA who underwent upper gastrointestinal (UGI) endoscopy were included. Esophageal varices were classified as high-risk (grade II with red-color signs or grade III or IV irrespective of red-color signs. NITs such as splenomegaly (clinical and USG), platelet count, aspartate transaminase to platelet ratio index (APRI), and platelet-to-spleen diameter ratio were compared between cases with high-risk and low-risk varices. RESULTS: A total of 110 children, 75 boys (66 successful KPE and 44 failed/KPE not performed) were enrolled. The median age at KPE was 85 days (IQR 63-98). Thirteen (11.8%) children presented with UGI bleeding. The first endoscopy revealed gastroesophageal varices in 75.4% of cases, and 32% of them had high-risk varices. Multivariate analysis revealed failed KPE, history of UGI bleeding, bigger spleen size (> 3.5 cm), lower platelet count (< 150 000), and higher APRI (> 2) are independent predictors of the presence of high-risk esophageal varices. CONCLUSION: Endoscopy is the best in predicting the presence of high-risk varices that might bleed; hence, early surveillance endoscopy should be started in children with splenomegaly, thrombocytopenia, and high APRI score to prevent variceal bleeding.


Assuntos
Atresia Biliar , Varizes Esofágicas e Gástricas , Varizes , Masculino , Criança , Humanos , Lactente , Varizes Esofágicas e Gástricas/diagnóstico , Varizes Esofágicas e Gástricas/etiologia , Atresia Biliar/complicações , Atresia Biliar/diagnóstico , Atresia Biliar/cirurgia , Esplenomegalia/diagnóstico por imagem , Esplenomegalia/etiologia , Estudos de Coortes , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/etiologia , Hemorragia Gastrointestinal/prevenção & controle , Endoscopia Gastrointestinal , Cirrose Hepática
8.
Indian J Gastroenterol ; 42(4): 534-541, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37300794

RESUMO

BACKGROUND: Achalasia sub-types affect treatment response in adults, but there is no similar data in children. We studied the differences in clinico-laboratory features and response to therapy between achalasia sub-types in children. METHODS: Forty-eight children (boys:girls-25:23, 14 [0.9-18] years) with achalasia (clinical, barium, high-resolution manometry [HRM], gastroscopy) were evaluated. The sub-type was determined by Chicago classification at HRM. Pneumatic dilatation (PD) or surgery was the primary therapy. Success was defined as Eckhardt score of ≤ 3. RESULTS: Dysphagia (95.8%) and regurgitation (93.8%) were the most common symptoms. Forty of 48 cases had an adequate HRM study: Type I (n-19), II (n-19) and III (n-2). Types I and II had similar clinical profile. Type II had higher basal lower esophageal sphincter (LES) pressure (30.5 [16.5-46] vs. 22.5 [13-43] mmHg; p = 0.007) and less dilated esophagus on timed barium esophagogram (TBE, 25 [13-57] vs. 34.5 [20-81] mm; p = 0.006) than type I. Both types had similar success (86.6% [13/15] vs. 92.8% [13/14]; p = 1) after first PD and need of post-PD myotomy (5/17 vs. 1/16; p = 0.1) in follow-up. Twenty-three cases had TBE before and after PD; 15 (65.2%) had good clearance. These subjects required myotomy (1/15 vs. 4/8; p = 0.03) and repeat PD (5/15 vs. 4/8; p = 0.08) less often than those with poor clearance on TBE. CONCLUSION: Types I and II achalasia have similar frequency and clinical profile. Type II has higher LES pressure and less dilated esophagus than Type I. Both respond equally well to initial PD. Type I required post-PD myotomy more often, though not significantly. TBE is useful for assessing therapeutic response.


Assuntos
Acalasia Esofágica , Adulto , Masculino , Feminino , Humanos , Criança , Acalasia Esofágica/terapia , Acalasia Esofágica/cirurgia , Bário , Cárdia , Resultado do Tratamento , Manometria , Esfíncter Esofágico Inferior
9.
J Crohns Colitis ; 17(12): 2026-2032, 2023 Dec 30.
Artigo em Inglês | MEDLINE | ID: mdl-37390314

RESUMO

BACKGROUND AND AIMS: Crohn's disease [CD] and intestinal tuberculosis [ITB] are often difficult to differentiate. Mesenteric fat hypertrophy is a feature of CD. We evaluated the utility of fat indices (visceral fat [VF] and subcutaneous fat [SF]) in differentiating CD and ITB in children. METHODS: Symptomatic children diagnosed to have CD or ITB based on recommended criteria were enrolled. Clinical, anthropometric, and laboratory details were noted. Abdominal fat was measured on computed tomography in supine position at the level of L4 vertebrae. VF and SF area was measured separately by a radiologist, blinded to the diagnosis. The sum of VF and SF was taken as total fat [TF]. VF/SF and VF/TF ratios were calculated. RESULTS: Thirty-four (age 14 years [10.8-17.0], 14 boys) children were recruited: 12 had CD [seven boys, age 13.0 years] and 22 had ITB [seven boys, age 14.5 years]. VF area was higher in CD compared to ITB (18.34 cm2 [15.62-40.01] vs 6.48 cm2 [2.65-21.96]; p = 0.012). The SF and TF area was similar in ITB and CD. The ratios of VF/SF (0.82 [0.57-1.5] vs 0.33 [0.16-0.48]; p = 0.004) and VF/TF (0.45 [0.36-0.60] vs 0.25 [0.13-0.32]; p = 0.004) were significantly higher in CD. On comparing CD and ITB in boys and girls separately, the difference was significant for boys but not for girls. A VF/SF ratio of 0.609 predicted CD with a good sensitivity [75%] and specificity [86.4%] [area under the curve 0.795, 95% confidence interval 0.636-0.955; p = 0.005]. CONCLUSION: The VF/SF ratio is a simple, non-invasive, objective parameter to differentiate CD and ITB in children, particularly boys. Larger studies are needed to validate this in girls.


Assuntos
Doença de Crohn , Enterite , Tuberculose Gastrointestinal , Masculino , Feminino , Criança , Humanos , Adolescente , Doença de Crohn/diagnóstico , Gordura Intra-Abdominal/diagnóstico por imagem , Tuberculose Gastrointestinal/diagnóstico , Enterite/diagnóstico , Tomografia Computadorizada por Raios X , Diagnóstico Diferencial
10.
Inflamm Bowel Dis ; 29(10): 1572-1578, 2023 10 03.
Artigo em Inglês | MEDLINE | ID: mdl-36594920

RESUMO

BACKGROUND: Very early-onset inflammatory bowel disease (VEO-IBD) is generally defined as onset of IBD at <6 years of age. Up to 20% of VEO-IBD may have a monogenic cause; hence, next-generation sequencing is highly recommended for diagnostic accuracy. There remains a paucity of data on VEO-IBD and the proportion of monogeneic causes in South Asia. We analyzed our tertiary care center experience of monogenic VEO-IBD from Northern India and compared them with nonmonogenic VEO-IBD to find out the factors that differentiate monogenic from nonmonogenic VEO-IBD. METHODS: All children (<18 years of age) diagnosed with IBD between January 2010 to July 2021 were analyzed along with the next-generation sequencing data and functional assays when available. Clinical features and outcomes between monogenic and nonmonogenic VEO-IBD were compared. RESULTS: A total of 200 children with a median age of 15.3 (range, 0.17-17) years, 125 of whom were boys, were diagnosed to have IBD during the study period. VEO-IBD was seen in 48 (24%) children. Monogenic IBD was diagnosed in 15 (31%) children with VEO-IBD and 7.5% of all IBD cases. The causes of monogenic VEO-IBD included disorders of the immune system (including interleukin-10 receptor mutations) in 12 and epithelial barrier dysfunction in 3. Features that differentiated monogenic from nonmonogenic VEO-IBD were neonatal IBD, presence of perianal disease, IBD unclassified, history of consanguinity and sibling death, wasting, and stunting (P < .05). There were 6 deaths. CONCLUSIONS: One-third of participants were monogenic among Indian children with VEO-IBD, the highest proportion reported to date in the world. Next-generation (either exome or whole genome) sequencing should be recommended in a subset of VEO-IBD with neonatal onset, perianal disease, history of consanguinity and siblings' death, wasting, stunting, and IBD unclassified phenotype for an early diagnosis and referral to an appropriate center for hematopoietic stem cell transplantation for a better outcome.


Of 200 children with inflammatory bowel disease (IBD), 48 were very early-onset IBD (VEO-IBD) and 15 (32%) of them had monogenic VEO-IBD. Clinical features that differentiated monogenic from nonmonogenic VEO-IBD were neonatal onset, perianal disease, history of consanguinity and sibling death, wasting, stunting, and IBD unclassified phenotype.


Assuntos
Doenças Inflamatórias Intestinais , Masculino , Recém-Nascido , Criança , Humanos , Lactente , Pré-Escolar , Adolescente , Feminino , Centros de Atenção Terciária , Prevalência , Idade de Início , Doenças Inflamatórias Intestinais/epidemiologia , Doenças Inflamatórias Intestinais/genética , Doenças Inflamatórias Intestinais/diagnóstico , Índia/epidemiologia , Transtornos do Crescimento
11.
Am J Gastroenterol ; 117(1): 120-128, 2022 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-34506335

RESUMO

INTRODUCTION: Relative adrenal insufficiency (RAI) is associated with poor outcome in adult cirrhotics. So far, pediatric studies are not available on the same. We aimed to prospectively study the presence and outcome of RAI in children with decompensated cirrhosis over 180 days. METHODS: Hemodynamically stable children with decompensated cirrhosis were sampled for serum basal cortisol and peak cortisol (after 30 minutes of 1-µg intravenous Synacthen) at day 1 and day 21. RAI was diagnosed as peak cortisol <500 nmol/L. Serum cytokines (interleukin-6 and tumor necrosis factor-α) and lipid profile were correlated with RAI. Cohort was followed up for outcomes over 180 days for complications and survival. With the identified risk factors, prognostic models were derived and compared with pediatric end-stage liver disease (PELD) and Child-Turcotte-Pugh scores. RESULTS: Prevalence of RAI was 54% at baseline and 61% at day 21 in the enrolled patients (n = 63, aged 128 ± 48 months, male 78%). No significant differences in cytokines and serum lipid levels were seen between RAI and normal adrenal function groups. Patients with RAI at baseline (D1-RAI) developed higher complications at follow-up as compared to the normal adrenal function group (53% vs 24%, P = 0.02). The PELD score (odds ratio 1.08, confidence interval 1.05-1.12, P < 0.01) and D1-RAI (odds ratio 3.19, confidence interval 1.32-7.73, P = 0.01) were independent predictors of follow-up complications. The PELD-delta cortisol model (area under the receiver operating curve 0.84, P < 0.001, 92% sensitivity; 60% specificity) predicted morbidity better than isolated PELD or Child-Turcotte-Pugh scores. DISCUSSION: RAI is a risk factor for development of complications in pediatric cirrhosis over short-term follow-up. The PELD-delta cortisol score is a promising prognostic model for predicting follow-up complications.


Assuntos
Insuficiência Adrenal/etiologia , Cirrose Hepática/complicações , Adolescente , Insuficiência Adrenal/epidemiologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Índia/epidemiologia , Masculino , Prevalência , Prognóstico , Estudos Prospectivos , Fatores de Risco , Índice de Gravidade de Doença , Fatores de Tempo
12.
Eur J Pediatr ; 181(1): 235-243, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34263405

RESUMO

Radiological embolization is the treatment of choice in adults with visceral artery pseudoaneurysm (PSA) and gastrointestinal bleeding, but pediatric data is scanty. We analyzed the etiology, clinical presentation, and outcome of radiological intervention in children with PSA of celiac (CA) or superior mesenteric artery (SMA) branches. Electronic records of children with PSA of CA or SMA branches were reviewed and data on clinical and laboratory profile, radiological intervention, and outcome was recorded. Eleven children with PSA (5 boys, 11 [7-17] years) were studied. Etiology was liver abscess (n 4), abdominal trauma (n 3), pancreatitis (n 3), and indeterminate in 1 case. Ten (91%) patients were symptomatic: abdominal pain (10, 91%), hematemesis/melena (9, 81%), and Quincke's triad (1, 9%). One child with pancreatic pseudocyst was diagnosed incidentally on imaging. Doppler ultrasound identified PSA only in 3 cases, while computed tomography angiography (CTA) picked all cases. Children with liver abscess, trauma, and unknown etiology had PSA from CA (right hepatic artery 7, left hepatic artery 1). Of the 3 pancreatitis cases, 2 had PSA from SMA (inferior pancreatico-duodenal artery and ileal branch) and 1 from CA (left gastric artery). Radiological embolization was done in 9 (81%) cases (coil 6, glue 2, both 1), without any complications or failure. One case resolved spontaneously and 1 died pre-intervention. Nine intervened cases were asymptomatic in follow-up [6 (1-24) months].Conclusion: Liver abscess, trauma, and pancreatitis are causes of PSA of CA and SMA branches in children. A majority present with gastrointestinal bleeding and are identified on CTA. Radiological embolization was safe with 100% success. What is Known: • Pseudoaneurysm of visceral artery is an uncommon cause of gastrointestinal bleeding. • Endoluminal intervention is an established and efficacious treatment modality in adults and preferred over surgery. What is New: • Liver abscess, abdominal trauma and pancreatitis are common causes of celiac artery and superior mesenteric artery branch pseudoaneurysm in children and computed tomography angiography has high sensitivity in identifying these pseudoaneurysms. • Minimally invasive radiological angio-embolization, in the hands of trained radiologists, is a safe and successful modality of treatment in children.


Assuntos
Falso Aneurisma , Embolização Terapêutica , Adulto , Falso Aneurisma/diagnóstico , Falso Aneurisma/diagnóstico por imagem , Angiografia , Criança , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/etiologia , Hemorragia Gastrointestinal/terapia , Artéria Hepática , Humanos , Masculino
13.
Indian J Gastroenterol ; 40(4): 420-444, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34219211

RESUMO

The Indian Society of Gastroenterology (ISG) felt the need to organize a consensus on Helicobacter pylori (H. pylori) infection and to update the current management of H. pylori infection; hence, ISG constituted the ISG's Task Force on Helicobacter pylori. The Task Force on H. pylori undertook an exercise to produce consensus statements on H. pylori infection. Twenty-five experts from different parts of India, including gastroenterologists, pathologists, surgeons, epidemiologists, pediatricians, and microbiologists participated in the meeting. The participants were allocated to one of following sections for the meeting: Epidemiology of H. pylori infection in India and H. pylori associated conditions; diagnosis; treatment and retreatment; H. pylori and gastric cancer, and H. pylori prevention/public health. Each group reviewed all published literature on H. pylori infection with special reference to the Indian scenario and prepared appropriate statements on different aspects for voting and consensus development. This consensus, which was produced through a modified Delphi process including two rounds of face-to-face meetings, reflects our current understanding and recommendations for the diagnosis and management of H. pylori infection. These consensus should serve as a reference for not only guiding treatment of H. pylori infection but also to guide future research on the subject.


Assuntos
Antibacterianos/uso terapêutico , Gastroenterologia/normas , Infecções por Helicobacter/tratamento farmacológico , Helicobacter pylori/efeitos dos fármacos , Consenso , Resistência Microbiana a Medicamentos , Infecções por Helicobacter/diagnóstico , Infecções por Helicobacter/epidemiologia , Humanos , Terapia de Salvação , Sociedades Médicas , Neoplasias Gástricas/microbiologia , Falha de Tratamento , Resultado do Tratamento
14.
Front Immunol ; 12: 612583, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33746956

RESUMO

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of immune dysregulation characterized by hyperactivation of the immune system, excessive cytokine secretion and severe systemic inflammation. HLH is classified as familial (FHL) when associated with mutations in PRF1, UNC13D, STX11, and STXBP2 genes. There is limited information available about the clinical and mutational spectrum of FHL patients in Indian population. This study is a retrospective analysis of 101 molecularly characterized FHL patients over the last 10 years from 20 different referral centers in India. FHL2 and FHL3 together accounted for 84% of cases of FHL in our cohort. Patients belonging to different FHL subtypes were indistinguishable based on clinical and biochemical parameters. However, flow cytometry-based assays viz. perforin expression and degranulation assay were found to be specific and sensitive in diagnosis and classification of FHL patients. Molecular characterization of respective genes revealed 76 different disease-causing mutations including 39 (51%) novel mutations in PRF1, UNC13D, STX11, and STXBP2 genes. Overall, survival was poor (28%) irrespective of the age of onset or the type of mutation in our cohort. Altogether, this article sheds light on the current scenario of FHL in India. Our data reveal a wide genetic heterogeneity of FHL in the Indian population and confirms the poor prognosis of FHL. This study also emphasizes that though mutational analysis is important for diagnostic confirmation of FHL, flow cytometry based assays help significantly in rapid diagnosis and functional validation of novel variants identified.


Assuntos
Biomarcadores , Suscetibilidade a Doenças , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/etiologia , Fenótipo , Alelos , Criança , Pré-Escolar , Terapia Combinada , Biologia Computacional/métodos , Bases de Dados Genéticas , Gerenciamento Clínico , Suscetibilidade a Doenças/imunologia , Feminino , Predisposição Genética para Doença , Humanos , Índia , Lactente , Linfo-Histiocitose Hemofagocítica/metabolismo , Linfo-Histiocitose Hemofagocítica/terapia , Masculino , Mutação , Perforina/genética , Perforina/metabolismo , Subpopulações de Linfócitos T/imunologia , Subpopulações de Linfócitos T/metabolismo , Resultado do Tratamento
15.
Pancreatology ; 21(4): 812-818, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33602644

RESUMO

BACKGROUND/OBJECTIVES: Endoscopic transmural drainage is the preferred method of drainage of pancreatic fluid collections (PFCs) in adults; however, there is scant literature in children. We analyzed our experience of 33 endoscopic cystogastrostomies done in 29 children to find its efficacy and safety. METHODS: We retrospectively analyzed the prospectively collected database of 31 consecutive children (<18 years) who underwent endoscopic cystogastrostomy from June 2013 to December 2017. The procedure was done using the standard technique with an adult duodenoscope. Data related to clinical details, technical success, complications and follow-up were collected. RESULTS: The median age was 14 (3-17) years (22 males). Indications were early satiety in 28 (90%), vomiting in 15 (48%), and duodenal obstruction and infected pseudocyst in 2 children each. Etiology includes acute pancreatitis 22, post-traumatic 4 and chronic pancreatitis 5. The procedure was successful in 29 of 31 (93.5%) children with no mortality. Adverse events happened in four cases (12.9%); two infections, another with bleeding and another with pneumoperitonium, both of which resolved spontaneously. Incidents (minor bleeding) were noted in 6 (19%). Stents were removed in 26 (90%) after 12 (7-20) weeks and got spontaneously migrated out in 3 (10%) cases. Over a median follow-up of 26 (5-48) months, 26 (90%) had no recurrence of pseudocyst and 3 (10%) had recurrence of a small, asymptomatic pseudocyst. CONCLUSIONS: Endoscopic cystogastrostomy is a safe and effective method of draining bulging PFCs in children. The procedure carries acceptable morbidity with minimal recurrence. In younger children it may be the preferred method of drainage of PFCs.


Assuntos
Pseudocisto Pancreático , Pancreatite , Doença Aguda , Adolescente , Adulto , Criança , Drenagem , Humanos , Masculino , Pseudocisto Pancreático/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
16.
J Gastroenterol Hepatol ; 36(3): 680-686, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32710649

RESUMO

BACKGROUND AND AIM: Functional dyspepsia (FD) is common in children, and treatment targeted towards the altered pathophysiology can improve outcome. We evaluated FD children for abnormality of gastric accommodation and emptying, psychological stressors (PS), Helicobacter pylori (HP) infection, and post-infectious FD. METHODS: Diagnosis of FD was based on ROME III criteria. Clinical evaluation including dyspeptic symptom scoring and assessment for PS was performed. Satiety drink test for gastric accommodation, gastroscopy with biopsy for HP infection, and solid meal gastric emptying were performed. Sixty-seven healthy children were enrolled for assessing PS and satiety drink test. RESULTS: Fifty-five FD children (33 boys, age 12 [6-18] years) with symptoms for 4 (2-48) months and dyspeptic score of 5 (1-13) were enrolled. PS were more common in FD than in controls (46/55 vs 9/67; P < 0.001). Median satiety drink volume was 360 mL (180-1320 mL); no patients had satiety drink volume of < 5th centile of healthy children. The frequency (98% vs 85%; P = 0.01) and severity (65 [10-175] vs 50 [5-130]; P < 0.001) of postprandial symptoms were higher in FD than in controls. Of the postprandial symptoms, pain (20.3% vs 0%; P = 0.000) was present only in FD. Delayed gastric emptying was present in 6.5%, HP infection in 11%, and post-infectious FD in 13% cases. Etiological factor was identified in 87% children, with 20% having multiple factors. CONCLUSIONS: Abnormality of gastric sensorimotor function is seen in one-fourth of FD cases. HP infection and post-infectious FD are present in 11% and 13% cases, respectively.


Assuntos
Dispepsia/diagnóstico , Dispepsia/etiologia , Adolescente , Criança , Técnicas de Diagnóstico do Sistema Digestório , Dispepsia/fisiopatologia , Feminino , Esvaziamento Gástrico , Gastrite/complicações , Gastrite/microbiologia , Infecções por Helicobacter , Humanos , Masculino , Índice de Gravidade de Doença , Estresse Psicológico/complicações
17.
Dig Dis ; 39(1): 25-32, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32450557

RESUMO

INTRODUCTION: There are gaps in the literature regarding outcome of multiple polyps and dilemmas in the management issues in polyposis syndromes in children. OBJECTIVE: We aimed to study the clinical behaviour of gastrointestinal (GI) polyps with emphasis on therapeutic outcomes of polyposis syndrome. METHODS: Proven cases of GI polyp(s) on endoscopy were classified as single polyp, multiple polyps, and polyposis syndrome. Complex presentation was defined as 1 or more of the following: severe anaemia, anasarca, intussusception, rectal mucosal prolapse, and diarrhoea. A clinico-endoscopic criterion was applied in polyposis syndrome patients for the decision of surgery versus endoscopic therapy with surveillance. RESULTS: Of total 240 patients, there were no significant differences between single (52.5%, n = 126) versus multiple polyps (27.5%, n = 66) with respect to age, symptoms, histology, and recurrence. Polyposis syndrome (20%, n = 48) presented with complex symptoms (50%), higher family history, significantly lower haemoglobin, total protein, and albumin as compared to single and multiple polyps (p < 0.01). Nineteen polyposis patients with favourable clinico-endoscopic criteria were endoscopically eradicated for polyps in 3 (1-4) sessions with sustenance of laboratory parameters at 1 year and 30% symptomatic recurrence at follow-up of 23.5 (7-40) months. There were no major endoscopic complications. Nineteen patients required proctocolectomy with improvement in laboratory parameters 6 months post-surgery. CONCLUSIONS: Multiple polyps behave similar to single polyps in children. A clinico-endoscopic criterion may guide for optimal management of polyposis syndrome. Colectomy may be effectively deferred in a large proportion of polyposis syndrome patients if maintained on an endoscopic protocol.


Assuntos
Polipose Adenomatosa do Colo/cirurgia , Endoscopia , Pólipos/cirurgia , Polipose Adenomatosa do Colo/patologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pólipos/patologia , Resultado do Tratamento
19.
JGH Open ; 4(5): 860-866, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33102756

RESUMO

BACKGROUND/AIM: Inflammatory bowel disease (IBD) is said to be rare in Asian children, and there is scarce information from India. We therefore analyzed our experience of pediatric IBD. METHODS: Prospectively maintained data of 105 consecutive children [median age 12 (IQR:7-14) years, 71 males] with IBD from July 2001 through June 2016 were retrospectively analyzed. Their detailed clinical features, endoscopic appearance, histopathology, and treatment outcomes were recorded. For Crohn's disease (CD), disease phenotype and disease location were assessed as per Paris classification. RESULTS: Disease spectrum includes ulcerative colitis (UC), 55 (52%); CD, 43 (41%); and IBD-unclassified, 7 (7%). There was a significant increase in the number of cases in the last 5 years compared to the previous 10 years (63 vs. 42, r2 = 0.96). Most UC cases (75%) had extensive/pancolitis, 74% of CD had colonic/ileocolonic disease, and 65% had inflammatory phenotype. Fever, growth failure, pain in abdomen, and need for surgery were significantly more frequent in CD than in UC (P < 0.0001). Over a median follow up of 19 (IQR: 7-48) months, remission was achieved in 48 of 51 (94%) UC patients and in 24 of 34 (70.6%) CD patients; an immunomodulator was required to maintain remission in 67% of UC cases. In CD, there was a significant reduction in the use of empirical antitubercular therapy (76%, P = 0.008) with time, and disease progressed in three. CONCLUSIONS: IBD is not uncommon, and the incidence seems to be increasing among Indian children. UC is more common than CD and is more often an extensive disease. CD is mainly an inflammatory phenotype. The majority of children with IBD required an immunomodulator to maintain remission.

20.
Indian Pediatr ; 57(8): 723-729, 2020 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-32844758

RESUMO

JUSTIFICATION: Cow's milk protein allergy (CMPA) is increasingly being diagnosed in the West, while there is scant data on the subject from India. There is low awareness among pediatricians about its diagnosis and management; leading to improper diagnosis. PROCESS: A group of experts from the pediatric gastroenterology sub-specialty chapter of Indian Academy of Pediatrics (Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition) met at Mumbai on 26 October, 2018 and discussed various issues relating to the subject. A broad consensus was reached and a writing committee was formed. They met again on 11 August, 2019 at Chennai for a detailed discussion. The statement was sent to the entire group by e-mail and their approval obtained. OBJECTIVE: To formulate a consensus statement enable proper diagnosis and management of Cow's milk protein allergy. RECOMMENDATIONS: Cow's milk protein allergy is most common in the first year of life. Gastrointestinal manifestations are usually non-IgE mediated and therefore skin prick test and specific IgE levels are not useful in diagnosis. Clinical response to elimination diet followed by a positive oral food challenge is diagnostic. In patients with only gastrointestinal manifestations, sigmoidoscopy and rectal biopsy may be considered as an alternative. Management involves strict avoidance of all forms of bovine milk protein. For infants who are artificially fed, an extensively hydrolyzed formula is the first choice. Soy formula is an alternative in those above six months of age. Since most infants outgrow the allergy, elimination diet is only for a limited period and re-evaluation should be done periodically.


Assuntos
Gastroenterologia , Hipersensibilidade a Leite , Animais , Bovinos , Criança , Feminino , Humanos , Índia , Lactente , Hipersensibilidade a Leite/diagnóstico , Hipersensibilidade a Leite/terapia , Proteínas do Leite , Testes Cutâneos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA