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  1. Article ; Online: Isochromosome Xq and the risk of metabolic comorbidities in Turner syndrome.

    Malhotra, Rakhi / Shukla, Rashmi / Rastogi, Vandana / Khadgawat, Rajesh

    Diabetes & metabolic syndrome

    2023  Volume 17, Issue 2, Page(s) 102708

    Abstract: Background and aim: Subjects with Turner syndrome (TS) are at increased risk of metabolic disorders. The objective of this study is to evaluate the prevalence of metabolic abnormalities in TS and compare the metabolic profiles of subjects with respect ... ...

    Abstract Background and aim: Subjects with Turner syndrome (TS) are at increased risk of metabolic disorders. The objective of this study is to evaluate the prevalence of metabolic abnormalities in TS and compare the metabolic profiles of subjects with respect to their X chromosome dosage.
    Methods: Sixty-four TS subjects with a mean age of 19 ± 4.9 years were included, and the prevalence of metabolic abnormalities was assessed. Out of these, 54 age and body mass index-matched TS subjects were divided into two groups based on karyotype: 45,X and 45,X/46,XX (group I; n = 33) and 46,X,i(X)(q10) and 45,X/46,X,i(X)(q10) (group II; n = 21). They were compared for blood pressure, fasting plasma glucose, homeostasis model assessment (HOMA) of insulin resistance (IR) and β cell function (HOMA-β), lipid profile, and percent total body fat mass (PTBFM) to assess if an extra copy of Xq contributes to a different metabolic profile.
    Results: The prevalence of impaired fasting glucose was 7.8%. 12% of subjects had higher systolic blood pressure (SBP), and 16% had higher diastolic blood pressure for age. 53% had a deranged lipid profile. Significant differences were noted in the two groups, with higher prevalence in group II vs. group I for SBP (p = 0.03), low-density lipoprotein cholesterol (LDL-c) (p = 0.03), and PTBFM (p = 0.02). When we applied a multiple regression analysis for these outcome variables while adjusting for potential confounders known to influence the cardiometabolic risk profile in TS, karyotype no longer remained a significant independent variable.
    Conclusion: Extra copies of Xq do not contribute to an adverse metabolic risk profile.
    MeSH term(s) Humans ; Adolescent ; Young Adult ; Adult ; Turner Syndrome/complications ; Turner Syndrome/epidemiology ; Turner Syndrome/genetics ; Isochromosomes ; Comorbidity ; Insulin Resistance/physiology ; Body Mass Index ; Lipids ; Metabolic Syndrome/epidemiology ; Metabolic Syndrome/genetics ; Metabolic Syndrome/metabolism ; Blood Glucose/metabolism
    Chemical Substances Lipids ; Blood Glucose
    Language English
    Publishing date 2023-01-14
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2273766-2
    ISSN 1878-0334 ; 1871-4021
    ISSN (online) 1878-0334
    ISSN 1871-4021
    DOI 10.1016/j.dsx.2023.102708
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  2. Article: A Case of Schimke Immunoosseous Dysplasia Caused by Large Deletion of

    Malhotra, Rakhi / Sharma, Mandeep / Dwivedi, Aradhana / Kalra, Suprita

    Indian journal of endocrinology and metabolism

    2021  Volume 25, Issue 4, Page(s) 358–360

    Language English
    Publishing date 2021-12-15
    Publishing country India
    Document type Journal Article
    ZDB-ID 2600211-5
    ISSN 2230-9500 ; 2230-8210
    ISSN (online) 2230-9500
    ISSN 2230-8210
    DOI 10.4103/ijem.ijem_148_21
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Idiopathic juvenile osteoporosis in a child: a four-year follow-up with review of literature.

    Dabas, Aashima / Malhotra, Rakhi / Kumar, Ravindra / Khadgawat, Rajesh

    Journal of pediatric endocrinology & metabolism : JPEM

    2021  Volume 34, Issue 11, Page(s) 1487–1490

    Abstract: Objectives: Childhood osteoporosis is an uncommon condition that usually develops secondary to underlying disease states. Idiopathic juvenile osteoporosis or early onset osteoporosis is a rare cause of primary osteoporosis in childhood associated with ... ...

    Abstract Objectives: Childhood osteoporosis is an uncommon condition that usually develops secondary to underlying disease states. Idiopathic juvenile osteoporosis or early onset osteoporosis is a rare cause of primary osteoporosis in childhood associated with mutations in "bone fragility" genes.
    Case presentation: The index case presented with upper back pain and was detected to have multiple vertebral fractures. Further workup for the cause revealed a homozygous benign mutation in low-density lipoprotein receptor-related protein 5, which was also detected in the mother who remained asymptomatic till presentation. The child was successfully treated with intravenous zoledronate.
    Conclusions: The case report describes the management approach and four-year follow-up of the child.
    MeSH term(s) Child ; Humans ; Low Density Lipoprotein Receptor-Related Protein-5/genetics ; Male ; Mutation ; Osteoporosis/diagnostic imaging ; Osteoporosis/genetics ; Osteoporotic Fractures/diagnostic imaging ; Osteoporotic Fractures/genetics ; Radiography
    Chemical Substances LRP5 protein, human ; Low Density Lipoprotein Receptor-Related Protein-5
    Language English
    Publishing date 2021-07-30
    Publishing country Germany
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 1231070-0
    ISSN 2191-0251 ; 0334-018X
    ISSN (online) 2191-0251
    ISSN 0334-018X
    DOI 10.1515/jpem-2021-0233
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 2258: Show issues Location:
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  4. Article ; Online: Continuous glucose monitoring and Rituximab treatment in insulin autoimmune syndrome.

    Boro, Hiya / Gupta, Uttio / Singh, Charandeep / Malhotra, Rakhi / Khadgawat, Rajesh

    Diabetes & metabolic syndrome

    2021  Volume 15, Issue 6, Page(s) 102294

    Abstract: Insulin autoimmune syndrome (IAS) or Hirata's disease is a rare cause of hypoglycemia. It is characterized by hyperinsulinemic hypoglycemia, elevated insulin autoantibody titers, no prior exposure to exogenous insulin and no pathological abnormalities of ...

    Abstract Insulin autoimmune syndrome (IAS) or Hirata's disease is a rare cause of hypoglycemia. It is characterized by hyperinsulinemic hypoglycemia, elevated insulin autoantibody titers, no prior exposure to exogenous insulin and no pathological abnormalities of pancreatic islets. Hypoglycemia usually occurs in the post prandial and post absorptive state. Most cases of IAS are self-limiting, with resolution of symptoms within six months to one year. In intractable cases, treatment modalities include low-carbohydrate meals; acarbose; diazoxide; glucocorticoids; immune-suppressants like Azathioprine, cyclophosphamide, mycophenolate mofetil; plasmapheresis and partial pancreatectomy. Rituximab, an anti CD20 monoclonal antibody, was first used in 2016 in a patient with IAS who did not respond to glucocorticoids. Subsequently, there have been three more case reports of IAS where Rituximab was used along with other modalities of treatment. Here, we report the case of a 64-year old Asian Indian woman who presented with recurrent episodes of severe post prandial hypoglycemia and was diagnosed with insulin autoimmune syndrome. She was managed with continuous glucose monitoring and two doses of Rituximab 10 weeks apart, that resulted in resolution of hypoglycemia. This case report underlies the role of Rituximab as a first line agent for treatment of hypoglycemia in IAS.
    MeSH term(s) Autoantibodies/blood ; Autoantibodies/immunology ; Autoimmune Diseases/blood ; Autoimmune Diseases/drug therapy ; Autoimmune Diseases/immunology ; Blood Glucose/analysis ; Blood Glucose Self-Monitoring/methods ; Female ; Humans ; Hyperinsulinism/physiopathology ; Immunologic Factors/therapeutic use ; Insulin Antibodies/blood ; Insulin Antibodies/immunology ; Middle Aged ; Rituximab/therapeutic use
    Chemical Substances Autoantibodies ; Blood Glucose ; Immunologic Factors ; Insulin Antibodies ; Rituximab (4F4X42SYQ6)
    Language English
    Publishing date 2021-09-20
    Publishing country Netherlands
    Document type Case Reports
    ZDB-ID 2273766-2
    ISSN 1878-0334 ; 1871-4021
    ISSN (online) 1878-0334
    ISSN 1871-4021
    DOI 10.1016/j.dsx.2021.102294
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  5. Article ; Online: Bone microarchitecture and bone mineral density in Graves' disease.

    Boro, Hiya / Malhotra, Rakhi / Kubihal, Suraj / Khatiwada, Saurav / Dogra, Vinay / Mannar, Velmurugan / Ahirwar, Ashok Kumar / Rastogi, Vandana

    Osteoporosis and sarcopenia

    2023  Volume 9, Issue 2, Page(s) 70–75

    Abstract: Objectives: Graves' disease (GD) is the most common cause of thyrotoxicosis. There are many studies that have evaluated bone mineral density (BMD) in Graves' disease. However, the strength of a bone also depends on its microarchitecture which can be ... ...

    Abstract Objectives: Graves' disease (GD) is the most common cause of thyrotoxicosis. There are many studies that have evaluated bone mineral density (BMD) in Graves' disease. However, the strength of a bone also depends on its microarchitecture which can be assessed by various techniques. Trabecular bone score (TBS) is a new method for assessing bone microarchitecture that is non-invasive and easily performed.
    Methods: The present study was a cross-sectional study that involved 50 patients with active GD and 50 healthy controls. Both groups were subjected to an assessment of biochemical parameters followed by measurement of BMD and TBS on the same dual energy X-ray absorptiometry (DXA) machine.
    Results: The mean age of patients with active GD (N = 50) was 31.9 ± 10.9 years while that of controls was 31.2 ± 4.9 years (P = 0.640). The female: male ratio was the same for both groups (F = 31, M = 19). The mean lumbar spine BMD, femoral neck BMD, total hip BMD, and distal radius BMD were significantly reduced in GD when compared to that in controls. The mean absolute lumbar spine TBS in GD was 1.263 ± 0.101 while that in controls was 1.368 ± 0.073 (P < 0.001). On multivariate regression analysis, the factors that predicted TBS were serum thyroxine (T4) and L
    Conclusions: Patients with Graves' disease had reduced bone density at all sites and degraded microarchitecture. Long-term studies are required to understand the pattern of recovery of bone microarchitecture after the restoration of euthyroidism.
    Language English
    Publishing date 2023-06-01
    Publishing country Netherlands
    Document type Journal Article
    ISSN 2405-5263
    ISSN (online) 2405-5263
    DOI 10.1016/j.afos.2023.05.001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Precocious pseudopuberty due to virilising adrenocortical carcinoma progressing to central precocious puberty after surgery.

    Goyal, Alpesh / Malhotra, Rakhi / Khadgawat, Rajesh

    BMJ case reports

    2019  Volume 12, Issue 3

    MeSH term(s) Adrenal Cortex Neoplasms/complications ; Adrenal Cortex Neoplasms/diagnostic imaging ; Adrenocortical Carcinoma/complications ; Adrenocortical Carcinoma/diagnostic imaging ; Child ; Humans ; Male ; Puberty, Precocious/etiology ; Tomography, X-Ray Computed
    Language English
    Publishing date 2019-03-12
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2019-229476
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  7. Article ; Online: Severe hyperandrogenism due to ovarian hyperthecosis in a young woman.

    Goyal, Alpesh / Malhotra, Rakhi / Kulshrestha, Vidushi / Kachhawa, Garima

    BMJ case reports

    2019  Volume 12, Issue 12

    Abstract: Hyperandrogenism is a relatively common clinical problem. However, severe hyperandrogenism causing virilisation is rare. A 27-year-old woman presented with generalised hirsutism, clitoromegaly, breast atrophy and secondary amenorrhoea. She had serum ... ...

    Abstract Hyperandrogenism is a relatively common clinical problem. However, severe hyperandrogenism causing virilisation is rare. A 27-year-old woman presented with generalised hirsutism, clitoromegaly, breast atrophy and secondary amenorrhoea. She had serum testosterone levels elevated to the adult male range. Administration of gonadotropin-releasing hormone (GnRH) analogue resulted in >50% suppression of serum testosterone which was suggestive of luteinising hormone-dependent ovarian hyperandrogenism. Imaging studies of abdomen and pelvis were normal, and ovarian venous sampling failed to show a gradient between the two sides. A presumptive diagnosis of ovarian hyperthecosis was, therefore, considered. Medical treatment with GnRH analogue and combined oral contraceptive pills was initiated to which an excellent clinical and biochemical response was noted. This case highlights a rare presentation of ovarian hyperthecosis in a young woman with severe hyperandrogenism mimicking a virilising neoplasm.
    MeSH term(s) Adult ; Amenorrhea/etiology ; Contraceptives, Oral/administration & dosage ; Contraceptives, Oral/therapeutic use ; Female ; Humans ; Hyperandrogenism/complications ; Hyperandrogenism/diagnosis ; Hyperandrogenism/drug therapy ; Hyperplasia ; Leuprolide/administration & dosage ; Leuprolide/therapeutic use ; Testosterone/blood ; Theca Cells/pathology ; Treatment Outcome
    Chemical Substances Contraceptives, Oral ; Testosterone (3XMK78S47O) ; Leuprolide (EFY6W0M8TG)
    Language English
    Publishing date 2019-12-17
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2019-232783
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Insulin Autoimmune Syndrome - A Case Series.

    Boro, Hiya / Gupta, Uttio / Singh, Charandeep / Malhotra, Rakhi / Khadgawat, Rajesh

    European endocrinology

    2020  Volume 16, Issue 2, Page(s) 168–171

    Abstract: Insulin autoimmune syndrome, or Hirata's disease, is a rare cause of hypoglycaemia. It is characterised by spontaneous episodes of hypoglycaemia, without any exposure to exogenous insulin. The majority of cases are seen in the Japanese population and it ... ...

    Abstract Insulin autoimmune syndrome, or Hirata's disease, is a rare cause of hypoglycaemia. It is characterised by spontaneous episodes of hypoglycaemia, without any exposure to exogenous insulin. The majority of cases are seen in the Japanese population and it is rarely found to affect other ethnicities. The recognition of this disease is important to avoid unnecessary investigations and procedures. Here, we report two cases of insulin autoimmune syndrome, which were diagnosed and managed in our institute.
    Language English
    Publishing date 2020-10-06
    Publishing country England
    Document type Case Reports
    ISSN 1758-3780
    ISSN (online) 1758-3780
    DOI 10.17925/EE.2020.16.2.168
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Multiple endocrine neoplasia type 2A with cutaneous lichen amyloidosis.

    Malhotra, Rakhi / Boro, Hiya / Shamim, Shamim Ahmed / Khadgawat, Rajesh

    BMJ case reports

    2020  Volume 13, Issue 8

    MeSH term(s) Adrenal Gland Neoplasms/complications ; Adrenal Gland Neoplasms/diagnosis ; Adrenal Gland Neoplasms/diagnostic imaging ; Adrenal Gland Neoplasms/surgery ; Adult ; Amyloidosis, Familial/complications ; Amyloidosis, Familial/diagnosis ; Diagnosis, Differential ; Female ; Headache/etiology ; Humans ; Lung Neoplasms/complications ; Lung Neoplasms/diagnosis ; Lung Neoplasms/diagnostic imaging ; Lung Neoplasms/surgery ; Multiple Endocrine Neoplasia Type 2a/complications ; Multiple Endocrine Neoplasia Type 2a/diagnosis ; Multiple Endocrine Neoplasia Type 2a/diagnostic imaging ; Multiple Endocrine Neoplasia Type 2a/surgery ; Neoplasm Metastasis ; Skin Diseases, Genetic/complications ; Skin Diseases, Genetic/diagnosis ; Thyroid Neoplasms/complications ; Thyroid Neoplasms/diagnosis ; Thyroid Neoplasms/diagnostic imaging ; Thyroid Neoplasms/surgery ; Thyroidectomy
    Language English
    Publishing date 2020-08-26
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2020-238423
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: A Case of Complicated Falciparum Malaria with Treatment Failure to Artemisinin Combination Therapy.

    Malhotra, Rakhi / Mutreja, Deepti

    The Journal of the Association of Physicians of India

    2015  Volume 62, Issue 9, Page(s) 861–863

    MeSH term(s) Adolescent ; Antimalarials/therapeutic use ; Artemisinins/therapeutic use ; Drug Resistance ; Drug Therapy, Combination ; Humans ; Malaria, Falciparum/drug therapy ; Male ; Treatment Failure
    Chemical Substances Antimalarials ; Artemisinins ; artemisinin (9RMU91N5K2)
    Language English
    Publishing date 2015-08-07
    Publishing country India
    Document type Case Reports ; Letter
    ZDB-ID 800766-4
    ISSN 0004-5772
    ISSN 0004-5772
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 313: Show issues Location:
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