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  1. Article ; Online: Glycogen Storage Disease Type IXb in a 3-y-old Child.

    Jain, Saumya / Tullu, Milind S / Muranjan, Mamta N / Karande, Sunil

    Indian journal of pediatrics

    2023  Volume 91, Issue 1, Page(s) 100

    MeSH term(s) Humans ; Glycogen Storage Disease ; Glycogen Storage Disease Type I/complications ; Glycogen Storage Disease Type I/diagnosis ; Child, Preschool
    Language English
    Publishing date 2023-06-23
    Publishing country India
    Document type Case Reports ; Letter
    ZDB-ID 218231-2
    ISSN 0973-7693 ; 0019-5456
    ISSN (online) 0973-7693
    ISSN 0019-5456
    DOI 10.1007/s12098-023-04718-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 826: Show issues Location:
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  2. Article ; Online: Economic Burden of Gaucher Disease at a Tertiary Care Public Hospital in Mumbai.

    Mhatre, Shweta P / Muranjan, Mamta / Gogtay, Nithya J

    Indian journal of pediatrics

    2023  Volume 91, Issue 5, Page(s) 463–469

    Abstract: Objectives: To estimate the economic burden of patients diagnosed with Gaucher disease at a public hospital from a societal perspective.: Methods: Data from 30 Gaucher patients visiting the Genetic Clinic of the Department of Pediatrics at the study ... ...

    Abstract Objectives: To estimate the economic burden of patients diagnosed with Gaucher disease at a public hospital from a societal perspective.
    Methods: Data from 30 Gaucher patients visiting the Genetic Clinic of the Department of Pediatrics at the study site in Mumbai was analyzed between January 2019 and January 2021. A cost of illness analysis was undertaken to estimate direct, indirect and intangible costs. Costs in treated and treatment naive groups were compared.
    Results: The total cost (direct and indirect) for 30 patients was ₹25,45,74,743/- (3440199.2 USD). Majority of this cost (99.8%) was due to direct costs of which medications [Enzyme replacement therapy (ERT) and Substrate reduction therapy (SRT)] constituted 98.8%. The notional cost was ₹1,43,94,695. Total costs of 14 treated patients were ₹25,29,67,279 and 16 treatment naive patients were ₹16,15,064 with a ratio of 157:1. Direct costs and cost of school absenteeism were significantly higher in the treated subgroup. Overall, direct, total costs and costs of school absenteeism were significantly associated with age and disease duration.
    Conclusions: The economic burden of Gaucher disease is a staggering amount. This is an underestimate, as the expenses are highly subsidized in a public health facility. The highest contributor to cost component was direct costs, especially medication costs. Against the backdrop of the National Policy for Rare Diseases, resource allocation towards Gaucher disease should consider short term measures for judicious funding or reimbursement of disease-specific therapy and long-term cost-effective measures for promoting preventive strategies as the most practically feasible solution to reduce this economic burden.
    MeSH term(s) Humans ; Child ; Gaucher Disease ; Financial Stress ; Tertiary Healthcare ; Cost of Illness ; Drug Costs ; Health Care Costs
    Language English
    Publishing date 2023-07-24
    Publishing country India
    Document type Journal Article
    ZDB-ID 218231-2
    ISSN 0973-7693 ; 0019-5456
    ISSN (online) 0973-7693
    ISSN 0019-5456
    DOI 10.1007/s12098-023-04740-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 826: Show issues Location:
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  3. Article: Economic burden of beta-thalassaemia major receiving hypertransfusion therapy at a public hospital in Mumbai.

    Uchil, Ashwija / Muranjan, Mamta / Gogtay, Nithya J

    The National medical journal of India

    2023  Volume 36, Issue 1, Page(s) 11–16

    Abstract: Background Treating beta-thalassaemia major may entail high costs with considerable out-of-pocket expenditure. Therefore, determination and valuation of the economic costs of a common haemoglobinopathy such as beta-thalassaemia major in India may provide ...

    Abstract Background Treating beta-thalassaemia major may entail high costs with considerable out-of-pocket expenditure. Therefore, determination and valuation of the economic costs of a common haemoglobinopathy such as beta-thalassaemia major in India may provide insights to evolve policies for reduction or elimination of the disease. We estimated economic burden of beta-thalassaemia major in Mumbai in terms of cost to the family and the healthcare system. Methods This single-centre, prospective, cross-sectional, non-interventional study included children <12 years of age treated at the thalassaemia day care centre of a public hospital in Mumbai. The demographic data and treatment-related information was recorded. Cost of illness was studied from a societal perspective by the prevalence-based approach. Direct (medical and non-medical), indirect (loss of wages and loss of school days) and intangible costs (closed-ended iterative bidding) were calculated for each patient by interview. Results The total annual cost of treating 130 children with beta-thalassaemia major in Mumbai was ₹86 72 412 (US$ 127 535) or ₹66 710 (US$ 981) per patient per year and ₹12 82 30 412 (US$ 1 885 741) including intangible costs. Direct costs contributed to 94% of the cost of illness with chelation therapy (23%) and blood investigations (21%) being major contributors. Direct and indirect costs correlated significantly with duration of blood transfusion (p<0.05 and p=0.006, respectively), whereas indirect costs correlated with socioeconomic status (rho=0.25). Conclusion The majority (94%) of costs incurred by families for treatment of beta-thalassaemia major are direct costs, especially expenses for chelation and blood investigations. Even at subsidized rates, financial burden to the families from lower socioeconomic strata is likely to be considerable as these are out-of-pocket expenses. In consideration of the economic impact of treating beta-thalassaemia major in individual families, the healthcare system and society, it is prudent to promote and pursue long-term and short-term measures with urgent emphasis on prevention as a public health activity at the national level in India.
    MeSH term(s) Child ; Humans ; Financial Stress ; beta-Thalassemia/epidemiology ; beta-Thalassemia/therapy ; Cross-Sectional Studies ; Prospective Studies ; Cost of Illness ; Hospitals, Public
    Language English
    Publishing date 2023-08-25
    Publishing country India
    Document type Journal Article
    ZDB-ID 645116-0
    ISSN 0970-258X
    ISSN 0970-258X
    DOI 10.25259/NMJI_580_20
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 2493: Show issues Location:
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  4. Article: Enzyme replacement therapy for lysosomal storage disorders in India.

    Muranjan, Mamta

    Molecular cytogenetics

    2014  Volume 7, Issue Suppl 1 Proceedings of the International Conference on Human, Page(s) I29

    Language English
    Publishing date 2014-01-21
    Publishing country England
    Document type Journal Article
    ZDB-ID 2420849-8
    ISSN 1755-8166
    ISSN 1755-8166
    DOI 10.1186/1755-8166-7-S1-I29
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Increased Nuchal Translucency Without Aneuploidy in a Fetus: Abnormal Postnatal Radiograph and a Novel Mutation.

    Dipak, Niraj Kumar / Muranjan, Mamta / Pandya, Shilpa / Naik, Manjusha Bhikurao

    NeoReviews

    2022  Volume 23, Issue 12, Page(s) e841–e844

    MeSH term(s) Humans ; Female ; Pregnancy ; Nuchal Translucency Measurement ; Aneuploidy ; Fetus ; Edema
    Language English
    Publishing date 2022-08-31
    Publishing country United States
    Document type Journal Article
    ISSN 1526-9906
    ISSN (online) 1526-9906
    DOI 10.1542/neo.23-12-e841
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Diagnosis is in the Eye of the Beholder: Barriers to Early Diagnosis of Mucopolysaccharidosis in Children in India.

    Grewal, Meenu / Muranjan, Mamta

    Journal of pediatric genetics

    2020  Volume 10, Issue 4, Page(s) 300–304

    Abstract: The present study examined referral pattern and diagnostic practices for mucopolysaccharidosis (MPS) in India in 40 patients with a confirmed diagnosis. Time lag between age of onset of symptoms and consultation with primary physician ranged from 0 to 84 ...

    Abstract The present study examined referral pattern and diagnostic practices for mucopolysaccharidosis (MPS) in India in 40 patients with a confirmed diagnosis. Time lag between age of onset of symptoms and consultation with primary physician ranged from 0 to 84 months, between consultation with primary physician and visit to genetic clinic of 0 to 128 months, from visit to genetic clinic and diagnosis of 1 to 111 months, and that between onset of symptoms and diagnosis 1 to 154 months. Major causes for delayed diagnosis were symptoms overlooked by physician (54%), late consultation by care giver (48.6%), late onset of symptoms (43.2%), and resource crunch (32.4%). Diagnosis at referral other than MPS was noted in 45%. Thus, diagnostic delay for MPS is common due to health seeking practices of parents, as well as physicians' clinical practices. Overcoming these barriers would necessitate strengthening awareness and educational activities for physicians and lay public.
    Language English
    Publishing date 2020-09-18
    Publishing country Germany
    Document type Journal Article
    ISSN 2146-4596
    ISSN 2146-4596
    DOI 10.1055/s-0040-1716707
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease.

    Mhatre, Shweta / Muranjan, Mamta / Karande, Sunil / Balaji, Harish

    BMJ case reports

    2021  Volume 14, Issue 5

    Abstract: Diagnosis of rare disorders requires heightened clinical acumen. When such disorders present with atypical or novel features, it adds to the diagnostic challenge. A 9-month-old female infant who had received a diagnosis of neonatal hepatitis due to ... ...

    Abstract Diagnosis of rare disorders requires heightened clinical acumen. When such disorders present with atypical or novel features, it adds to the diagnostic challenge. A 9-month-old female infant who had received a diagnosis of neonatal hepatitis due to cytomegalovirus infection at 2 months of age presented to our institute with developmental delay, fever, vomiting, feeding difficulty, breathlessness and features of elevated intracranial pressure due to hydrocephalus. Key examination findings with cholestatic jaundice as an early manifestation led to suspicion of type 4 Farber disease. Observation of hydrocephalus, hypertension, bilateral pinguecula and Erlenmeyer flask deformity of the femur were unusual findings for Farber disease. The child had few features (pinguecula, Erlenmeyer flask deformity and hydrocephalus) overlapping with Gaucher disease. Alternatively, prosaposin deficiency (Farber disease type 7) was another differential diagnosis. Diagnosis of Farber disease was confirmed by detection of foamy macrophages on skin biopsy and two homozygous missense variants in
    MeSH term(s) Child ; Farber Lipogranulomatosis ; Female ; Femur ; Gaucher Disease/complications ; Gaucher Disease/diagnosis ; Gaucher Disease/genetics ; Humans ; Infant ; Infant, Newborn ; Mutation, Missense ; Skin
    Language English
    Publishing date 2021-05-27
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2020-240742
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Diagnosis is in the Eye of the Beholder: Barriers to Early Diagnosis of Mucopolysaccharidosis in Children in India

    Grewal, Meenu / Muranjan, Mamta

    Journal of Pediatric Genetics

    2020  Volume 10, Issue 04, Page(s) 300–304

    Abstract: The present study examined referral pattern and diagnostic practices for mucopolysaccharidosis (MPS) in India in 40 patients with a confirmed diagnosis. Time lag between age of onset of symptoms and consultation with primary physician ranged from 0 to 84 ...

    Abstract The present study examined referral pattern and diagnostic practices for mucopolysaccharidosis (MPS) in India in 40 patients with a confirmed diagnosis. Time lag between age of onset of symptoms and consultation with primary physician ranged from 0 to 84 months, between consultation with primary physician and visit to genetic clinic of 0 to 128 months, from visit to genetic clinic and diagnosis of 1 to 111 months, and that between onset of symptoms and diagnosis 1 to 154 months. Major causes for delayed diagnosis were symptoms overlooked by physician (54%), late consultation by care giver (48.6%), late onset of symptoms (43.2%), and resource crunch (32.4%). Diagnosis at referral other than MPS was noted in 45%. Thus, diagnostic delay for MPS is common due to health seeking practices of parents, as well as physicians' clinical practices. Overcoming these barriers would necessitate strengthening awareness and educational activities for physicians and lay public.
    Keywords lysosomal storage disorders ; glycosaminoglycans ; inborn errors of metabolism
    Language English
    Publishing date 2020-09-18
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ISSN 2146-460X ; 2146-4596
    ISSN (online) 2146-460X
    ISSN 2146-4596
    DOI 10.1055/s-0040-1716707
    Database Thieme publisher's database

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  9. Article ; Online: Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.

    Singh, Swati / Jacob, Prince / Patil, Siddaramappa J / Muranjan, Mamta / Shah, Hitesh / Girisha, Katta M / Bhavani, Gandham SriLakshmi

    American journal of medical genetics. Part A

    2023  Volume 194, Issue 3, Page(s) e63422

    Abstract: CHST3-related chondrodysplasia with congenital joint dislocations (CDCJD, #MIM 143095), is a rare genetic skeletal disorder caused by biallelic loss of function variants in CHST3. CHST3 is critical for the sulfation of chondroitin sulfate. This study ... ...

    Abstract CHST3-related chondrodysplasia with congenital joint dislocations (CDCJD, #MIM 143095), is a rare genetic skeletal disorder caused by biallelic loss of function variants in CHST3. CHST3 is critical for the sulfation of chondroitin sulfate. This study delineates the clinical presentation of nine individuals featuring the key symptoms of CDCJD; congenital joint (knee and elbow) dislocations, short trunk short stature progressive vertebral anomalies, and metacarpal shortening. Additional manifestations include irregular distal femoral epiphysis, supernumerary carpal ossification centers, bifid humerus, club foot, and cardiac abnormalities. Sanger sequencing was carried out to investigate molecular etiology in eight patients and exome sequencing in one. Genetic testing revealed five homozygous variants in CHST3 (four were novel and one was previously reported). All these variants are located on sulfotransferase domain of CHST3 protein and were classified as pathogenic/ likely pathogenic. We thus report on nine individuals with CHST3-related chondrodysplasia with congenital joint dislocations from India and suggest monitoring the health of cardiac valves in this condition.
    MeSH term(s) Humans ; Dwarfism ; Joint Dislocations/diagnosis ; Joint Dislocations/genetics ; Musculoskeletal Abnormalities ; Mutation ; Osteochondrodysplasias/diagnosis ; Osteochondrodysplasias/genetics ; Sulfotransferases/genetics
    Chemical Substances Sulfotransferases (EC 2.8.2.-) ; CHST3 protein, human (EC 2.8.2.17)
    Language English
    Publishing date 2023-10-24
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63422
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1376/A: Show issues Location:
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  10. Article ; Online: Acute Paraparesis Due to Lumbosacral Radiculopathy With Concomitant Meningitis: Unusual Presentation of Scrub Typhus.

    Muranjan, Mamta / Karande, Sunil

    The Pediatric infectious disease journal

    2016  Volume 35, Issue 11, Page(s) 1279–1280

    Language English
    Publishing date 2016-11
    Publishing country United States
    Document type Journal Article
    ZDB-ID 392481-6
    ISSN 1532-0987 ; 0891-3668
    ISSN (online) 1532-0987
    ISSN 0891-3668
    DOI 10.1097/INF.0000000000001293
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