Deepa Krishnakumar
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Effectiveness of Blunt Pressure Technique on Level of Pain during Intramuscular Injection among Patients Attending Out Patient Department at Selected Tertiary Care Hospital, Coimbatore. Open
Introduction: Pain is a continuous, most complex and sensory response for every one life. It is defined as an unpleasant, subjective, sensory and emotional human experience. Many non- pharmacological techniques are used to reduce pain one …
View article: Paediatric Idiopathic Intracranial Hypertension: Presenting Features, Management, and Visual Outcomes in a Single Centre Cohort.
Paediatric Idiopathic Intracranial Hypertension: Presenting Features, Management, and Visual Outcomes in a Single Centre Cohort. Open
Purpose Idiopathic Intracranial Hypertension (IIH) is an important cause of papilloedema in children that can lead to visual loss. This study examined patient demographics combined with presenting signs and symptoms in paediatric patients …
View article: Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum Open
Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders. Objective To better understand the presentation and clinical needs of the under‐characterized extreme end of the congenital titinopathy seve…
View article: CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes Open
Cytoplasmic and nuclear iron-sulfur (Fe-S) enzymes that are essential for genome maintenance and replication depend on the cytoplasmic Fe-S assembly (CIA) machinery for cluster acquisition. The core of the CIA machinery consists of a compl…
View article: Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes Open
Cytoplasmic and nuclear iron-sulfur enzymes that are essential for genome maintenance and replication depend on the cytoplasmic iron-sulfur assembly (CIA) machinery for cluster acquisition. Here we report that patients with biallelic loss …
How to use lumbar puncture manometry in children Open
Measurement of cerebrospinal fluid pressure through lumbar puncture (LP) manometry is an essential practical skill all paediatricians should possess competency in. The ability to perform manometry is crucial in the diagnosis of idiopathic …
1158 Ethnicity, demographics and growth parameters of children referred to east of england idiopathic Intracranial Hypertension (IIH) service Open
Aims The primary aim of this study was to characterise the ethnicity, demographics and growth parameters of children referred to IIH clinic in the East of England. The secondary aim was to describe any association with IIH and obesity and …
View article: 397 Delphi consensus for the UK guideline for management and surveillance of Idiopathic Intracranial Hypertension in children and young people
397 Delphi consensus for the UK guideline for management and surveillance of Idiopathic Intracranial Hypertension in children and young people Open
Aims Idiopathic Intracranial Hypertension (IIH) is associated with headaches and a potential loss of vision. The prevalence may rise with childhood obesity. As there is no strong evidence to support the way IIH is diagnosed or treated, it …
Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature Open
Background Mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes (MELAS) syndrome is one of the most well‐known mitochondrial diseases, with most cases attributed to m.3243A>G. MELAS syndrome patients typically present …
View article: Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy
Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy Open
IMPORTANCE: Vamorolone is a synthetic steroidal drug with potent anti-inflammatory properties. Initial open-label, multiple ascending dose-finding studies of vamorolone among boys with Duchenne muscular dystrophy (DMD) found significant mo…
Clinical features, investigations, and outcomes of pediatric limbic encephalitis: A multicenter study Open
Objectives To describe the clinical presentation, investigations, management, and disease course in pediatric autoimmune limbic encephalitis (LE). Methods In this retrospective observational study, from the UK Childhood Neuroinflammatory D…
1465 Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome: the highly variable diagnostic journey Open
Background Introduction: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder with neurological manifestations. It is most commonly caused by the m.3243A>G mutation in t…
1614 Paediatric cerebral venous sinus thrombosis (CVST): a single-centre audit and discussion of best practice Open
Background Cerebral venous sinus thrombosis (CVST) is a rare but serious condition that typically affects children and young adults. Its presentation is variable and non-specific, making diagnosis difficult. Systemic anticoagulation is the…
1610 Paediatric cerebral venous sinus thrombosis (CVST): a single-centre audit and discussion of best practice Open
Background Cerebral venous sinus thrombosis (CVST) is a rare but serious condition that typically affects children and young adults. Its presentation is variable and non-specific, making diagnosis difficult. Systemic anticoagulation is the…
1605 Paediatric cerebral venous sinus thrombosis (CVST): a single-centre audit and discussion of best practice Open
Background Cerebral venous sinus thrombosis (CVST) is a rare but serious condition that typically affects children and young adults. Its presentation is variable and non-specific, making diagnosis difficult. Systemic anticoagulation is the…
G365(P) Retrospective cohort study of (p)ior reversible encephalopathy syndrome (pres) in paediatric oncology patients over a 10 year period Open
Aims Literature regarding (P)ior reversible encephalopathy syndrome (PRES) in paediatric oncology is limited. Clinical symptoms of PRES include seizures, headaches, altered consciousness, and visual disturbances. We describe the seizures i…
Development of nasal HPV vaccine formulations Open
Cervical cancer is the second most cancer in women worldwide with over 500000 new cases and 275000 deaths being registered every year. With nearly 73000 women dying every year, India now tops the world in cervical cancer deaths. India repr…