Shruti Kakkar - Academia.edu (original) (raw)

Papers by Shruti Kakkar

Pediatric Hematology Oncology Journal

Pediatric Hematology Oncology Journal, 2020

American Journal of Medical Genetics Part A, 2013

Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare syndrome characterized by childhood o... more Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor convulsions, hemiplegia, and epilepsy in sequence. Exact pathogenesis is not clear. Here we are describing a 3-year-old girl with HHE syndrome with cytogenetic microarray (CMA) showing deletion of 1.8 Mb in 1q44 region. Along with HHE syndrome, the patient also had global developmental delay, subtle facial dysmorphism, and preaxial polydactyly. Clinical phenotype of 1q44 microdeletion syndrome is quite variable. Main clinical features are microcephaly, seizures, and abnormality of corpus callosum. We compared the patient's phenotype with other patients in 10 previously published papers of 1q44 microdeletion syndrome. HNRNPU and FAM36A are two important genes in the deleted region. HNRNPU gene mediate long range control of SHH gene which is likely explanation of preaxial polydactyly in the present patient. HHE may be a chance co-occurrence.

Pediatric Hematology Oncology Journal

Journal of Pediatric Hematology/Oncology

Acta Bio Medica : Atenei Parmensis, 2019

In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications... more In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications, such as: central hypothyroidism (CH), thyroid cancer, latent hypocortisolism, and growth hormone deficiency (GHD) have emerged and been reported. As the early detection of these complications is essential for appropriate treatment and follow-up, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) promoted a survey on these complications in adult TM patients, among physicians (pediatricians, hematologists and endocrinologists) caring for TM patients in different countries. The data reported by 15 countries are presented. The commonest endocrine complications registered in 3.114 TM adults are CH and GHD (4.6 % and 3.0 %, respectively), followed by latent hypocortisolism (1.2%). In 13 patients (0.41%) a cytological papillary or follicular thyroid carcinoma was diagnosed in 11 and 2 patients, respectively, and a lobectomy or thyroide...

Thalassemia, a genetic blood disorder, involves an inability to produce sufficient hemoglobin and... more Thalassemia, a genetic blood disorder, involves an inability to produce sufficient hemoglobin and comprises two types: alpha thalassemia and beta thalassemia. Beta thalassemia's immediate treatment measures include frequent blood transmissions, stem cell and bone marrow transplants; all capable of altering an individual's idea of body image, self-concept, growth, and socialization, resulting in several emotional, psychological, and behavioral concerns. This study aimed at comprehending the dilemmas of body image and self-concept encountered by adolescents with thalassemia, particularly the resulting influence on physical development and socialization. Using the phenomenological interpretivism approach of qualitative research, data was collected using purposive-convenient sampling from 11 adolescents, both boys and girls ranging from ages 12 to 18, living with thalassemia and undergoing treatment. The research highlights adolescent concerns with body image, specifically with ...

The first case of COVID 19 in India was reported on 30th January 2020 and it has affected approxi... more The first case of COVID 19 in India was reported on 30th January 2020 and it has affected approximately 82,29,313 people of which nearly 1,22,607 patients have succumbed to the illness and the count is only increasing (as per data accessed on 3/11/2020 from mygov.in). The Government of India announced a total lockdown on 25th March 2020 to prevent the spread of the infection. Many health care facilities in the government sector were converted to COVID 19 dedicated hospitals, shutting their doors to patients with non-COVID illnesses. The decision although necessary had a dire impact on patients with chronic diseases such as hemoglobin disorders in particular thalassemia as continued timely care is essential. Difficulties in getting drugs, transportations, and blood supply have been reported in the literature during the COVID-19 pandemic. Furthermore, many clinicians and patients with chronic diseases have highlighted the problem of access to and utilization of services1,2. A survey b...

Acta Bio Medica : Atenei Parmensis, 2019

Background: More than five decades ago, thalassemia major (TDT) was fatal in the first decade of ... more Background: More than five decades ago, thalassemia major (TDT) was fatal in the first decade of life. Survival and quality of life have improved progressively thanks to the implementation of a significant advance in diagnostic and therapeutic methods, consisting mainly of a frequent transfusion program combined with intensive chelation therapy. Improvement also includes imaging methods used to measure liver and cardiac iron overload. Improved survival has led to a growing number of adults requiring specialised care and counselling for specific life events, such as sexual maturity and acquisition of a family. Aims of the study: The main aim is to present the results of a survey on the marital and paternity status in a large population of adult males with TDT and NTDT living in countries with a high prevalence of thalassemia and a review of current literature using a systematic search for published studies. Results: Ten out of 16 Thalassemia Centres (62.5%) of the ICET-A Network, tre...

Indian Pediatrics

Objective: To identify clinical and laboratory features that differentiate dengue fever patients ... more Objective: To identify clinical and laboratory features that differentiate dengue fever patients from MIS-C patients and determine their outcomes. Methods: This comparative crosssectional study was done at a tertiary care teaching institute. We enrolled all hospitalized children aged 1 month-18 years and diagnosed with either MIS-C and/or dengue fever according to WHO criteria between June and December, 2020. Clinical and laboratory features and outcomes were recorded on a structured proforma. Results: During the study period 34 cases of MIS-C and 83 cases of Dengue fever were enrolled. Mean age of MIS-C cases (male, 86.3%) was 7.89 (4.61) years. MIS-C with shock was seen in 15 cases (44%), MIS-C without shock in 17 cases (50%) and Kawasaki disease-like presentation in 2 cases (6%). Patients of MIS-C were younger as compared to dengue fever (P=0.002). Abdominal pain and erythematous rash were more common in dengue fever. Of the inflammatory markers, mean C reactive protein was higher in MIS-C patients [100.2 (85.1) vs 16.9 (29.3) mg/dL] (P<0.001). In contrast, serum ferritin levels were higher in dengue fever patients (P=0.03). Mean hospital stay (patient days) was longer in MIS-C compared to dengue fever (8.6 vs 6.5 days; P=0.014). Conclusions: Clinical and laboratory features can give important clues to differentiate dengue fever and MIS-C and help initiate specific treatment.

In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications... more In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications, such as: central hypothyroidism (CH), thyroid cancer, latent hypocortisolism, and growth hormone deficiency (GHD) have emerged and been reported. As the early detection of these complications is essential for appropriate treatment and follow-up, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) promoted a survey on these complications in adult TM

International Journal of Hematology-Oncology and Stem Cell Research

Background: Thalassemia is a chronic disease requiring lifelong treatment. The adherence to regul... more Background: Thalassemia is a chronic disease requiring lifelong treatment. The adherence to regular iron chelation therapy is important to ensure complication-free survival and good quality of life. The study aim to assess the adherence to iron chelation therapy (ICT) in patients with transfusion-dependent thalassemia (TDT), evaluate various causes of non-adherence and study the impact of non-adherence on the prevalence of complications secondary to iron overload. Materials and Methods: Patients with TDT on ICT for > 6 months were enrolled in the study. Hospital records were reviewed for demographic details, iron overload status, treatment details, and the prevalence of complications. A study questionnaire was used to collect information on adherence to ICT, knowledge of patients, and the possible reasons for non-adherence. Results: A total of 215 patients with a mean age of 15.07+7.68 years and an M: F ratio of 2.2:1 were included in the study. Non-adherence to ICT was found in ...

Pediatric Hematology Oncology Journal

Pediatric Nephrology

Oral cyclophosphamide (CYP) is an important therapeutic agent in treatment of steroid-sensitive n... more Oral cyclophosphamide (CYP) is an important therapeutic agent in treatment of steroid-sensitive nephrotic syndrome having a steroid-dependent (SD) or frequent relapsing (FR) course. This retrospective observational study aimed to determine response to oral CYP and factors associated with positive response in these patients. We studied 100 children (male; 75) with FR (19%) and SD (81%) NS treated with CYP in the Pediatric Nephrology clinic. Responders were defined as children in whom steroids were stopped for at least 6 months following CYP and factors affecting response were analysed. Relapse-free survival was estimated by Kaplan–Meier method. Median age at onset of NS was 3 years (IQR 2–5.2). Median age at CYP was 5.7 years (IQR 3.7–7.9). Fifty percent of patients were in the responder group at 6 months of CYP. Relapse-free survival post CYP therapy was 31% at 1 year, 11% at 2 years. Factors predicting good response were age at onset of NS > 3 years with 61.2% response at 6 months (p = 0.028) and older age at CYP initiation (> 5 years) with 61% response (p = 0.008). Multivariate regression analysis showed age at start of CYP > 5 years was an independent factor for good response (p = 0.044, OR = 2.903, CI −1.03 to 8.18). Judicious selection of patients, especially with age of onset of NS more than 3 years and initiation of CYP after age of 5 years, can predict better response in this group of patents.

The Indian Journal of Pediatrics

Pediatric Hematology Oncology Journal

Pediatric Hematology Oncology Journal

Mediterranean Journal of Hematology and Infectious Diseases

Due to the recent alarming increase in the incidence of hepatocellular carcinoma (HCC) in thalass... more Due to the recent alarming increase in the incidence of hepatocellular carcinoma (HCC) in thalassemias, the aim of the present report is to review briefly the frequency, the major risk factors and the surveillance of HCC in β-thalassemias. Over the past 33 years, 153 cases of HCC were reported in patients with thalassemia, mainly in Italy, and Greece. Among HCV-infected patients additional factors promoting development of HCC, included: advanced age, male sex, chronic hepatitis B (CHB) coinfection, and iron overload. For early diagnosis of HCC sequential ultrasound screening is recommended especially for thalassemia patients with chronic hepatitis C (CHC), that coincide with (one or more) additional risk factors for HCC. Here we report also the preliminary data of thalassemic patients, above the age of 30 years, followed in 13 different centers. The total number of enrolled patients was 1,313 (males: 612 and 701 females). The prevalence of HCC in thalassemia major patients [char...

Pediatric Hematology Oncology Journal

Pediatric Hematology Oncology Journal, 2020

American Journal of Medical Genetics Part A, 2013

Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare syndrome characterized by childhood o... more Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor convulsions, hemiplegia, and epilepsy in sequence. Exact pathogenesis is not clear. Here we are describing a 3-year-old girl with HHE syndrome with cytogenetic microarray (CMA) showing deletion of 1.8 Mb in 1q44 region. Along with HHE syndrome, the patient also had global developmental delay, subtle facial dysmorphism, and preaxial polydactyly. Clinical phenotype of 1q44 microdeletion syndrome is quite variable. Main clinical features are microcephaly, seizures, and abnormality of corpus callosum. We compared the patient's phenotype with other patients in 10 previously published papers of 1q44 microdeletion syndrome. HNRNPU and FAM36A are two important genes in the deleted region. HNRNPU gene mediate long range control of SHH gene which is likely explanation of preaxial polydactyly in the present patient. HHE may be a chance co-occurrence.

Pediatric Hematology Oncology Journal

Journal of Pediatric Hematology/Oncology

Acta Bio Medica : Atenei Parmensis, 2019

In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications... more In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications, such as: central hypothyroidism (CH), thyroid cancer, latent hypocortisolism, and growth hormone deficiency (GHD) have emerged and been reported. As the early detection of these complications is essential for appropriate treatment and follow-up, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) promoted a survey on these complications in adult TM patients, among physicians (pediatricians, hematologists and endocrinologists) caring for TM patients in different countries. The data reported by 15 countries are presented. The commonest endocrine complications registered in 3.114 TM adults are CH and GHD (4.6 % and 3.0 %, respectively), followed by latent hypocortisolism (1.2%). In 13 patients (0.41%) a cytological papillary or follicular thyroid carcinoma was diagnosed in 11 and 2 patients, respectively, and a lobectomy or thyroide...

Thalassemia, a genetic blood disorder, involves an inability to produce sufficient hemoglobin and... more Thalassemia, a genetic blood disorder, involves an inability to produce sufficient hemoglobin and comprises two types: alpha thalassemia and beta thalassemia. Beta thalassemia's immediate treatment measures include frequent blood transmissions, stem cell and bone marrow transplants; all capable of altering an individual's idea of body image, self-concept, growth, and socialization, resulting in several emotional, psychological, and behavioral concerns. This study aimed at comprehending the dilemmas of body image and self-concept encountered by adolescents with thalassemia, particularly the resulting influence on physical development and socialization. Using the phenomenological interpretivism approach of qualitative research, data was collected using purposive-convenient sampling from 11 adolescents, both boys and girls ranging from ages 12 to 18, living with thalassemia and undergoing treatment. The research highlights adolescent concerns with body image, specifically with ...

The first case of COVID 19 in India was reported on 30th January 2020 and it has affected approxi... more The first case of COVID 19 in India was reported on 30th January 2020 and it has affected approximately 82,29,313 people of which nearly 1,22,607 patients have succumbed to the illness and the count is only increasing (as per data accessed on 3/11/2020 from mygov.in). The Government of India announced a total lockdown on 25th March 2020 to prevent the spread of the infection. Many health care facilities in the government sector were converted to COVID 19 dedicated hospitals, shutting their doors to patients with non-COVID illnesses. The decision although necessary had a dire impact on patients with chronic diseases such as hemoglobin disorders in particular thalassemia as continued timely care is essential. Difficulties in getting drugs, transportations, and blood supply have been reported in the literature during the COVID-19 pandemic. Furthermore, many clinicians and patients with chronic diseases have highlighted the problem of access to and utilization of services1,2. A survey b...

Acta Bio Medica : Atenei Parmensis, 2019

Background: More than five decades ago, thalassemia major (TDT) was fatal in the first decade of ... more Background: More than five decades ago, thalassemia major (TDT) was fatal in the first decade of life. Survival and quality of life have improved progressively thanks to the implementation of a significant advance in diagnostic and therapeutic methods, consisting mainly of a frequent transfusion program combined with intensive chelation therapy. Improvement also includes imaging methods used to measure liver and cardiac iron overload. Improved survival has led to a growing number of adults requiring specialised care and counselling for specific life events, such as sexual maturity and acquisition of a family. Aims of the study: The main aim is to present the results of a survey on the marital and paternity status in a large population of adult males with TDT and NTDT living in countries with a high prevalence of thalassemia and a review of current literature using a systematic search for published studies. Results: Ten out of 16 Thalassemia Centres (62.5%) of the ICET-A Network, tre...

Indian Pediatrics

Objective: To identify clinical and laboratory features that differentiate dengue fever patients ... more Objective: To identify clinical and laboratory features that differentiate dengue fever patients from MIS-C patients and determine their outcomes. Methods: This comparative crosssectional study was done at a tertiary care teaching institute. We enrolled all hospitalized children aged 1 month-18 years and diagnosed with either MIS-C and/or dengue fever according to WHO criteria between June and December, 2020. Clinical and laboratory features and outcomes were recorded on a structured proforma. Results: During the study period 34 cases of MIS-C and 83 cases of Dengue fever were enrolled. Mean age of MIS-C cases (male, 86.3%) was 7.89 (4.61) years. MIS-C with shock was seen in 15 cases (44%), MIS-C without shock in 17 cases (50%) and Kawasaki disease-like presentation in 2 cases (6%). Patients of MIS-C were younger as compared to dengue fever (P=0.002). Abdominal pain and erythematous rash were more common in dengue fever. Of the inflammatory markers, mean C reactive protein was higher in MIS-C patients [100.2 (85.1) vs 16.9 (29.3) mg/dL] (P<0.001). In contrast, serum ferritin levels were higher in dengue fever patients (P=0.03). Mean hospital stay (patient days) was longer in MIS-C compared to dengue fever (8.6 vs 6.5 days; P=0.014). Conclusions: Clinical and laboratory features can give important clues to differentiate dengue fever and MIS-C and help initiate specific treatment.

In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications... more In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications, such as: central hypothyroidism (CH), thyroid cancer, latent hypocortisolism, and growth hormone deficiency (GHD) have emerged and been reported. As the early detection of these complications is essential for appropriate treatment and follow-up, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) promoted a survey on these complications in adult TM

International Journal of Hematology-Oncology and Stem Cell Research

Background: Thalassemia is a chronic disease requiring lifelong treatment. The adherence to regul... more Background: Thalassemia is a chronic disease requiring lifelong treatment. The adherence to regular iron chelation therapy is important to ensure complication-free survival and good quality of life. The study aim to assess the adherence to iron chelation therapy (ICT) in patients with transfusion-dependent thalassemia (TDT), evaluate various causes of non-adherence and study the impact of non-adherence on the prevalence of complications secondary to iron overload. Materials and Methods: Patients with TDT on ICT for > 6 months were enrolled in the study. Hospital records were reviewed for demographic details, iron overload status, treatment details, and the prevalence of complications. A study questionnaire was used to collect information on adherence to ICT, knowledge of patients, and the possible reasons for non-adherence. Results: A total of 215 patients with a mean age of 15.07+7.68 years and an M: F ratio of 2.2:1 were included in the study. Non-adherence to ICT was found in ...

Pediatric Hematology Oncology Journal

Pediatric Nephrology

Oral cyclophosphamide (CYP) is an important therapeutic agent in treatment of steroid-sensitive n... more Oral cyclophosphamide (CYP) is an important therapeutic agent in treatment of steroid-sensitive nephrotic syndrome having a steroid-dependent (SD) or frequent relapsing (FR) course. This retrospective observational study aimed to determine response to oral CYP and factors associated with positive response in these patients. We studied 100 children (male; 75) with FR (19%) and SD (81%) NS treated with CYP in the Pediatric Nephrology clinic. Responders were defined as children in whom steroids were stopped for at least 6 months following CYP and factors affecting response were analysed. Relapse-free survival was estimated by Kaplan–Meier method. Median age at onset of NS was 3 years (IQR 2–5.2). Median age at CYP was 5.7 years (IQR 3.7–7.9). Fifty percent of patients were in the responder group at 6 months of CYP. Relapse-free survival post CYP therapy was 31% at 1 year, 11% at 2 years. Factors predicting good response were age at onset of NS > 3 years with 61.2% response at 6 months (p = 0.028) and older age at CYP initiation (> 5 years) with 61% response (p = 0.008). Multivariate regression analysis showed age at start of CYP > 5 years was an independent factor for good response (p = 0.044, OR = 2.903, CI −1.03 to 8.18). Judicious selection of patients, especially with age of onset of NS more than 3 years and initiation of CYP after age of 5 years, can predict better response in this group of patents.

The Indian Journal of Pediatrics

Pediatric Hematology Oncology Journal

Pediatric Hematology Oncology Journal

Mediterranean Journal of Hematology and Infectious Diseases

Due to the recent alarming increase in the incidence of hepatocellular carcinoma (HCC) in thalass... more Due to the recent alarming increase in the incidence of hepatocellular carcinoma (HCC) in thalassemias, the aim of the present report is to review briefly the frequency, the major risk factors and the surveillance of HCC in β-thalassemias. Over the past 33 years, 153 cases of HCC were reported in patients with thalassemia, mainly in Italy, and Greece. Among HCV-infected patients additional factors promoting development of HCC, included: advanced age, male sex, chronic hepatitis B (CHB) coinfection, and iron overload. For early diagnosis of HCC sequential ultrasound screening is recommended especially for thalassemia patients with chronic hepatitis C (CHC), that coincide with (one or more) additional risk factors for HCC. Here we report also the preliminary data of thalassemic patients, above the age of 30 years, followed in 13 different centers. The total number of enrolled patients was 1,313 (males: 612 and 701 females). The prevalence of HCC in thalassemia major patients [char...