Publications by authors named "Rajni Sharma"

Background: Caregivers of children with chronic kidney disease (CKD) often face significant psychological and social challenges. This study aimed to assess the extent of psychological distress, quality of life (QOL), coping strategies and associated risk factors among caregivers and to evaluate whether these issues intensify with advanced stages of CKD.

Methods: A cross-sectional observational study was conducted at a tertiary care centre in North India, enrolling 50 consecutive caregivers of children with CKD between July 2020 and June 2021.

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Objective: To assess the cognitive and behavioral outcomes of very low birth weight (VLBW) as compared to normal birth weight (NBW) neonates in middle childhood.

Methods: In this observational study, the first 50 VLBW (≤ 1250 g) children from an original cohort of 2009-2011, who agreed to participate, and 50 age and sex-matched NBW children were assessed at 6-11 years age. Cognitive function, behavior, psychopathology, self-concept, adjustment and memory parameters were assessed by a certified psychologist using Malin's Intelligence Scale for Indian Children (MISIC), Childhood Psychopathology Measurement Schedule, Children's Self-concept Scale, Preadolescent Adjustment Inventory, and PGI Memory Scale for Children (PGIMC), respectively.

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Background And Objectives: Early diagnosis of epilepsy is crucial for improving outcomes. However, access to specialized healthcare remains a challenge in many regions. This study aimed to adapt and validate the International Clinical Epidemiology Network Diagnostic Tool for Epilepsy (INDT-EPI) for screening childhood epilepsy in the Punjabi-speaking Indian population.

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Aim: To evaluate the frequency of monogenic diabetes mutations among individuals clinically suspected to have monogenic diabetes in India.

Methods: Participants (n = 774) were recruited from 65 diabetes centres across India (http://monogenicdiabetes.in/Collaborators.

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Adenoid cystic carcinoma (ACC) is a rare malignancy of the salivary glands with poor long-term outcomes and with a need for improved imaging and therapeutic options. Prostate-specific membrane antigen (PSMA) expression has been observed in ACC and preliminary studies have demonstrated PET imaging using Ga-functionalized PSMA agents for positron emission tomography (PET). We aimed to assess the extent of PSMA expression in a collection of archival ACC samples and demonstrate the feasibility of using F-DCFPyL for PSMA PET imaging of ACC.

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Background: Consumers have always anticipated and requested high-quality and safe food items, which is why food quality analyses and mandatory product inspections were introduced. Various novel techniques and analytical breakthroughs have emerged to cater to the problem of food authenticity. It is difficult to interpret and analyze large and complex data with traditional machine learning algorithms.

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Background: Adult solid organ transplant recipients (SOTRs) have decreased responsiveness to severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) vaccination and higher incidence of infection, but there are few data on the serological response in pediatric SOTR. The aim of this study was to determine serological response to SARS-CoV-2 vaccination in pediatric liver (LT) and kidney transplant (KT) recipients and compare it with adult SOTR.

Methods: A European, prospective, multicenter study was performed.

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Background: 46,XY gonadal dysgenesis is classified as complete (CGD) or partial (PGD) subtypes. The phenotype of PGD and the long-term outcome is not clearly defined.

Objective: To evaluate clinical features and pubertal outcome of PGD in a large cohort, using CGD as a comparator for diagnostic clarity.

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Background: The management of rare tumors at reference centers with specialized multidisciplinary tumor boards (MTBs) improves patient survival. No international standardized diagnostic and treatment recommendations for pediatric patients with adrenocortical carcinoma (ACC) exist so far. The aim of this case-based study is to determine how congruent treatment recommendations are in different specialized institutions in different countries.

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Background: Hereditary angioedema (HAE) is characterized by unpredictable acute attacks that impair the patient's quality of life (QoL) not only due to the impact on functional abilities caused by edema but also due to pain and other symptoms, including fatigue, nausea, and vomiting.

Objectives: QoL studies in patients with HAE have not been carried out in the Indian subcontinent. Hence, we carried out this study to assess the QoL and to identify factors associated with impaired QoL in patients with HAE.

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Objectives: To present authors' experience with congenital arginine vasopressin resistance (AVP-R) in children up to 12-y-old at a tertiary care center in Northern India.

Methods: An ambispective analysis was conducted, focusing on clinical, biochemical, genetic evaluations, treatments, renal and neurological outcomes.

Results: Data from 11 patients (two females) were included, with an average delay of 18 mo between symptom onset and diagnosis.

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Chronic low back pain (CLBP) is a major global health issue, particularly severe in low- and middle-income countries (LMICs), where health care resources and accessibility are limited. Mobile health (mHealth) interventions offer a promising solution by leveraging technology to deliver health care services remotely. This review aims to evaluate the effectiveness of mHealth interventions in managing CLBP in LMICs.

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Background: 46, XY disorders of sex development (DSD) are a group of highly heterogeneous conditions in which the molecular etiology remains unknown in a significant proportion of patients, even with massive parallel sequencing. Clinically significant copy number variants (CNVs) are identified in 20-30% of cases, particularly among those with gonadal dysgenesis (GD) and no molecular diagnosis.

Methods: Fourteen patients with 46, XY DSD due to GD in whom no pathogenic/likely pathogenic variants were found on next-generation sequencing using a targeted panel of 155 genes were screened for clinically significant CNVs using Affymetrix Comparative Genomic Hybridization (CGH).

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Background: To explore the utility of general movements assessment as a predictive tool of the neurological outcome in term-born infants with hypoxic-ischemic encephalopathy (HIE) at ages six and 12 months.

Methods: This prospective observational study was conducted for 18 months (August 2018 to December 2019). Term-born newborns with HIE were included.

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Objectives: To assess changes in body mass index (BMI), diet and physical activity (PA) of 8-15-y-old children with overweight/ obesity, following a smartphone applications-based intervention; and to understand facilitators and barriers for BMI reduction.

Methods: Children were enrolled through online sessions on childhood obesity for students, parents and teachers at five private schools in Delhi, and requesting parents who perceived their children as having obesity to contact the study team. Eligibility was confirmed through home visit by a technician.

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Glioblastoma (GBM) is foremost the most aggressive primary brain tumor, presenting extensive therapeutic challenges due to its high invasiveness, genetic complexity, and resistance to established treatments. Despite substantial advances in surgical and chemotherapeutic interventions, the median survival rate for patients is only 14.6 months, and the prognosis remains poor.

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Objectives: To present cases of rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) and discuss management insights.

Methods: Case records of patients fulfilling the criteria for ROHHAD and presenting to the Pediatric Endocrinology Division of All India Institute of Medical Sciences, New Delhi, between July 2019 and June 2024 were reviewed for clinical features, treatments, and outcomes.

Results: Five patients (4 boys, 1 girl) presented at a median age of 4 y (range 3.

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Objective: Management of Differences of Sex Development (DSD) is complex and in resource limited settings the psychosexual and psychosocial aspects of DSD care have received limited attention. This review aims to explore recent literature on psychosocial care of DSD in low and upper middle-income countries (L/UMIC).

Materials And Methods: Scientific databases were searched and papers on management of DSD were reviewed according to predefined inclusion criteria.

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A series of 1H-1,2,3-triazole-tethered spirocyclopropyl oxindole-isatin hybrids were synthesized using a copper-promoted click reaction and evaluated for their anti-proliferative activities against triple-negative breast cancer cell lines. The most potent compound in the series outperformed tamoxifen and 5-fluorouracil, with selectivity indices of 1.60 and 1.

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Article Synopsis
  • Ischemic acute kidney injury (AKI) is a frequent issue for hospitalized patients and increases the risk of developing chronic kidney disease (CKD).
  • The study identifies the importance of specific enzymes (PHD1, PHD2, and PHD3) in kidney repair after ischemia, revealing that altering these enzymes leads to worse kidney damage and inflammation.
  • Inhibiting a protein called MCT4 can improve kidney repair by reducing inflammation and preventing damage caused by a faulty metabolic response in endothelial cells, suggesting a potential treatment strategy for preventing the progression from AKI to CKD.
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