in form of low set ears thin long neck and prominent eyeballs, multiple hyperpigmented patches ov... more in form of low set ears thin long neck and prominent eyeballs, multiple hyperpigmented patches over the body. Systemic examination revealed firm hepatomegaly. Child was treated with intravenous antibiotics for the persistent fever spikes. Hemogram revealed anemia (Hb:6 gm%) with thrombocytopenia (50000/mm 3) with low normal white cell counts (4.49 * 10 3 /mm 3). Serology was positive for hepatitis A IgM antibodies. In view of short stature, anemia and dysmorphism, Bloom's syndrome was suspected. Chromosomal breakage analysis studies and bone marrow were sent for which reports are awaited. Child is thriving well. Discussion: Blooms syndrome is characterized by severe pre and post natal growth retardation, erythematous skin lesions on the body and recurrent infections, caf e au liat spots. Due to the chromosomal instability there is a marked increase in the risk for leukemias and other cancers of the lymphoid tissue. Regular follow up is key to an early diagnosis of malignancies. Even with early diagnosis prognosis remains poor as these children do not tolerate chemotherapy well.
only 1 of these 4 patients had both IgG1 and IgG3 coating and rest 3 had only IgG1. Alloantibody ... more only 1 of these 4 patients had both IgG1 and IgG3 coating and rest 3 had only IgG1. Alloantibody screen was negative in all. Specificity of autoantibody was found only in one case(anti E). 3 children attained remission following a 4-6 weeks of steroids. In steroid dependent, cyclosporine was used as the second line agent in 2 and Rituximab was used in 3. Out of these children 5 children are in sustained remission and off any medication, whereas the rest are on low dose steroids with cyclosporine. Conclusion: AIHA in children can vary in its clinical severity. Efficient immuno-hematological evaluation can aid the treatment immensely.
Background: Patients with thalassemia often complain of pain, fatigue and breathlessness. Studies... more Background: Patients with thalassemia often complain of pain, fatigue and breathlessness. Studies have shown that these patients have reduced muscle mass, are at higher risk for osteoporosis and engage in significantly less physical activity. Significant cardiac iron overload also decreases their exercise capacity further. However, there is dearth of literature studying the impact of physiotherapy on bone health and overall wellbeing in thalassemia. Therefore the current study aimed at studying the impact of physiotherapy in management in individuals with thalassemia. Materials and Methods: The records of 160 patients reporting at Comprehensive Thalassemia Care Centre, from June 2017-June 2018 were retrospectively analysed. 145 of these were transfusion dependent thalassemia (TDT) and 15 were non-transfusion dependent thalassemia (NTDT) from 5 to 30 years of age. They underwent systemic examination (ROM, Tightness, Manual muscle testing) followed by management (pain management, strengthening exercises, aerobic exercises and pulmonary rehabilitation) as per their complaints. Assessment was done using Visual Analogue Scale (VAS) for pain and fatigue. Symptom of breathlessness was assessed by New York Heart Association (NYHA) grades. Effect of physiotherapy on categorical variables (pain, fatigue, dyspnea) was evaluated using paired't'test. Results: Of the 160 patients, 97 were males and 63 were females. Among the symptomatic patients, 92 had bony pains, 21 had dyspnea and 31 complained of fatigue. 16 patients were asymptomatic. After physiotherapy there was significant improvement in pain (p <0.001), dyspnea (p<0.001) and fatigue (p¼0.001) in TDT patients. Though the number of NTDT patients was small, NTDT patients too showed significant improvement in pain (p <0.001), dyspnea (p<0.05) and fatigue (p <0.001). Conclusion: Our study shows that inclusion of physiotherapy in management protocol of patients with thalassemia has significant positive impact on their symptoms. Thus, we recommend ongoing physiotherapy regime as an essential part of comprehensive thalassemia care.
disease and death. 2 children where TCR a/b depletion and CD3/19 selection was used died of progr... more disease and death. 2 children where TCR a/b depletion and CD3/19 selection was used died of progressive leukoencephalopathy probably of viral etiology. Conclusions: Haploidentical stem cell transplantation is a feasible option for cure in children with lifethreatening benign disorders where no compatible family or matched unrelated donor has been found with engraftment rates of 75% and overall survival of 55%. Up to 30% can develop CMV viral reactivation and acute GVHD. PTCY in infants caused lethal neurological side effects and mortality and should not be recommended. In our series, we have had superior outcome with the use of PTCy compared to ex vivo T depletion with survival rates of 55%. The cost of the monoclonal antibodies alone is about 12 lakhs making this procedure twice as expensive compared to PTCY. Careful patient selection will improve outcomes using this simple but cost effective method of treating children with benign haematological conditions in the future.
International Journal of Contemporary Pediatrics, 2016
Pulmonary hypertension (PHT) may develop in most forms of hereditary and chronic haemolytic anemi... more Pulmonary hypertension (PHT) may develop in most forms of hereditary and chronic haemolytic anemia during intravascular haemolysis including sickle cell anemia, thalassemia, hereditary spherocytosis and paroxysmal nocturnal haemoglobinuria. 3 Cross-sectional
Background: The objective of the study was to analyzethe clinical, laboratory parameters and trea... more Background: The objective of the study was to analyzethe clinical, laboratory parameters and treatment outcomes of children presenting with autoimmune hemolytic anemia (AIHA) at our tertiary care center. Design: This is a retrospective study of prospectively collected data on children diagnosed with AIHA aged 0-18yrsfrom January 2007-April 2019. AIHA was diagnosed based on clinical and lab evidence of autoimmune hemolysis with or without positive direct antiglobulin test (DAT). Response criteria used were previously defined by standards of diagnosis and therapeutic effect of hemopathy. Results: Fifty patients diagnosed with AIHA were enrolled in the study;three cases were excluded due to lack of follow up data. Median age at diagnosis was 3years (1.5month to 17years) with 32% being infants and 60% were males. Presenting features included fever (68%), pallor (100%), jaundice (60%), respiratory symptoms (20%), dark urine (26%), organomegaly (92%). Atypical features like negative DAT were seen in 6% and reticulocytopenia in 26% patients. Based on monospecific DAT and cold agglutinin used in 34 patients (2013 onwards), AIHA was categorized as warm (IgG+with/without C3+(36%)), cold (IgM+, C3+/cold agglutinin+(24%)), mixed(IgG+,IgM+,C3+(8%)). Primary AIHA accounted for 64% patients. Secondary (36%) causes included infection (10%), Evans syndrome(6%), malignancy(6%), autoimmune hepatitis(4%), SLE(4%), CVID(2%),Wiskott-aldrich syndrome(2%) and giant cell hepatitis(2%). Mean hemoglobin at presentation was 4.7gm/dl. Degree of anemia was more severe in children1yr(3.9 vs 5.2 mg/dl, p<0.015). Very severe anemia was seen in 12% patients, 28% children needed PICU admission due to varied causes. Treatment modalities included steroid only(66%), IVIg only(4%), steroid+IVIg (4%), steroid+rituximab (4%), steroid+ritux-imab+cyclosporine (2%) and steroid+other (3,14%). One patient improved spontaneously. Treatment duration was longer(11months) for secondary AIHA than primary(6.6months, p<0.017) and in patients needing polytherapy(13.3months) than steroids only(7.5months, p<0.006). During median follow up period of 73 months(1-150month), 29(58%) remained in continuous complete remission,16(32%) remained in complete remission. Despite a relapse in 26% cases, 61.5% still showed good response to steroids. One patient with secondary AIHA with underlying lymphoma died due to fulminant fungal sepsis and hemophagocytosis. Conclusion: Treating AIHA in children can be challenging and may need prolonged and complicated therapy especially in secondary AIHA. Infants have a more severe presentation. Monospecific DAT and a thorough search for an underlying cause help optimize therapy in most patients.
in form of low set ears thin long neck and prominent eyeballs, multiple hyperpigmented patches ov... more in form of low set ears thin long neck and prominent eyeballs, multiple hyperpigmented patches over the body. Systemic examination revealed firm hepatomegaly. Child was treated with intravenous antibiotics for the persistent fever spikes. Hemogram revealed anemia (Hb:6 gm%) with thrombocytopenia (50000/mm 3) with low normal white cell counts (4.49 * 10 3 /mm 3). Serology was positive for hepatitis A IgM antibodies. In view of short stature, anemia and dysmorphism, Bloom's syndrome was suspected. Chromosomal breakage analysis studies and bone marrow were sent for which reports are awaited. Child is thriving well. Discussion: Blooms syndrome is characterized by severe pre and post natal growth retardation, erythematous skin lesions on the body and recurrent infections, caf e au liat spots. Due to the chromosomal instability there is a marked increase in the risk for leukemias and other cancers of the lymphoid tissue. Regular follow up is key to an early diagnosis of malignancies. Even with early diagnosis prognosis remains poor as these children do not tolerate chemotherapy well.
only 1 of these 4 patients had both IgG1 and IgG3 coating and rest 3 had only IgG1. Alloantibody ... more only 1 of these 4 patients had both IgG1 and IgG3 coating and rest 3 had only IgG1. Alloantibody screen was negative in all. Specificity of autoantibody was found only in one case(anti E). 3 children attained remission following a 4-6 weeks of steroids. In steroid dependent, cyclosporine was used as the second line agent in 2 and Rituximab was used in 3. Out of these children 5 children are in sustained remission and off any medication, whereas the rest are on low dose steroids with cyclosporine. Conclusion: AIHA in children can vary in its clinical severity. Efficient immuno-hematological evaluation can aid the treatment immensely.
Background: Patients with thalassemia often complain of pain, fatigue and breathlessness. Studies... more Background: Patients with thalassemia often complain of pain, fatigue and breathlessness. Studies have shown that these patients have reduced muscle mass, are at higher risk for osteoporosis and engage in significantly less physical activity. Significant cardiac iron overload also decreases their exercise capacity further. However, there is dearth of literature studying the impact of physiotherapy on bone health and overall wellbeing in thalassemia. Therefore the current study aimed at studying the impact of physiotherapy in management in individuals with thalassemia. Materials and Methods: The records of 160 patients reporting at Comprehensive Thalassemia Care Centre, from June 2017-June 2018 were retrospectively analysed. 145 of these were transfusion dependent thalassemia (TDT) and 15 were non-transfusion dependent thalassemia (NTDT) from 5 to 30 years of age. They underwent systemic examination (ROM, Tightness, Manual muscle testing) followed by management (pain management, strengthening exercises, aerobic exercises and pulmonary rehabilitation) as per their complaints. Assessment was done using Visual Analogue Scale (VAS) for pain and fatigue. Symptom of breathlessness was assessed by New York Heart Association (NYHA) grades. Effect of physiotherapy on categorical variables (pain, fatigue, dyspnea) was evaluated using paired't'test. Results: Of the 160 patients, 97 were males and 63 were females. Among the symptomatic patients, 92 had bony pains, 21 had dyspnea and 31 complained of fatigue. 16 patients were asymptomatic. After physiotherapy there was significant improvement in pain (p <0.001), dyspnea (p<0.001) and fatigue (p¼0.001) in TDT patients. Though the number of NTDT patients was small, NTDT patients too showed significant improvement in pain (p <0.001), dyspnea (p<0.05) and fatigue (p <0.001). Conclusion: Our study shows that inclusion of physiotherapy in management protocol of patients with thalassemia has significant positive impact on their symptoms. Thus, we recommend ongoing physiotherapy regime as an essential part of comprehensive thalassemia care.
disease and death. 2 children where TCR a/b depletion and CD3/19 selection was used died of progr... more disease and death. 2 children where TCR a/b depletion and CD3/19 selection was used died of progressive leukoencephalopathy probably of viral etiology. Conclusions: Haploidentical stem cell transplantation is a feasible option for cure in children with lifethreatening benign disorders where no compatible family or matched unrelated donor has been found with engraftment rates of 75% and overall survival of 55%. Up to 30% can develop CMV viral reactivation and acute GVHD. PTCY in infants caused lethal neurological side effects and mortality and should not be recommended. In our series, we have had superior outcome with the use of PTCy compared to ex vivo T depletion with survival rates of 55%. The cost of the monoclonal antibodies alone is about 12 lakhs making this procedure twice as expensive compared to PTCY. Careful patient selection will improve outcomes using this simple but cost effective method of treating children with benign haematological conditions in the future.
International Journal of Contemporary Pediatrics, 2016
Pulmonary hypertension (PHT) may develop in most forms of hereditary and chronic haemolytic anemi... more Pulmonary hypertension (PHT) may develop in most forms of hereditary and chronic haemolytic anemia during intravascular haemolysis including sickle cell anemia, thalassemia, hereditary spherocytosis and paroxysmal nocturnal haemoglobinuria. 3 Cross-sectional
Background: The objective of the study was to analyzethe clinical, laboratory parameters and trea... more Background: The objective of the study was to analyzethe clinical, laboratory parameters and treatment outcomes of children presenting with autoimmune hemolytic anemia (AIHA) at our tertiary care center. Design: This is a retrospective study of prospectively collected data on children diagnosed with AIHA aged 0-18yrsfrom January 2007-April 2019. AIHA was diagnosed based on clinical and lab evidence of autoimmune hemolysis with or without positive direct antiglobulin test (DAT). Response criteria used were previously defined by standards of diagnosis and therapeutic effect of hemopathy. Results: Fifty patients diagnosed with AIHA were enrolled in the study;three cases were excluded due to lack of follow up data. Median age at diagnosis was 3years (1.5month to 17years) with 32% being infants and 60% were males. Presenting features included fever (68%), pallor (100%), jaundice (60%), respiratory symptoms (20%), dark urine (26%), organomegaly (92%). Atypical features like negative DAT were seen in 6% and reticulocytopenia in 26% patients. Based on monospecific DAT and cold agglutinin used in 34 patients (2013 onwards), AIHA was categorized as warm (IgG+with/without C3+(36%)), cold (IgM+, C3+/cold agglutinin+(24%)), mixed(IgG+,IgM+,C3+(8%)). Primary AIHA accounted for 64% patients. Secondary (36%) causes included infection (10%), Evans syndrome(6%), malignancy(6%), autoimmune hepatitis(4%), SLE(4%), CVID(2%),Wiskott-aldrich syndrome(2%) and giant cell hepatitis(2%). Mean hemoglobin at presentation was 4.7gm/dl. Degree of anemia was more severe in children1yr(3.9 vs 5.2 mg/dl, p<0.015). Very severe anemia was seen in 12% patients, 28% children needed PICU admission due to varied causes. Treatment modalities included steroid only(66%), IVIg only(4%), steroid+IVIg (4%), steroid+rituximab (4%), steroid+ritux-imab+cyclosporine (2%) and steroid+other (3,14%). One patient improved spontaneously. Treatment duration was longer(11months) for secondary AIHA than primary(6.6months, p<0.017) and in patients needing polytherapy(13.3months) than steroids only(7.5months, p<0.006). During median follow up period of 73 months(1-150month), 29(58%) remained in continuous complete remission,16(32%) remained in complete remission. Despite a relapse in 26% cases, 61.5% still showed good response to steroids. One patient with secondary AIHA with underlying lymphoma died due to fulminant fungal sepsis and hemophagocytosis. Conclusion: Treating AIHA in children can be challenging and may need prolonged and complicated therapy especially in secondary AIHA. Infants have a more severe presentation. Monospecific DAT and a thorough search for an underlying cause help optimize therapy in most patients.
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