A5110497982- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Anesthesia and Sedative Agents
- Mitochondrial Function and Pathology
- Anesthesia and Pain Management
- Cardiac, Anesthesia and Surgical Outcomes
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Cardiac Ischemia and Reperfusion
- Respiratory Support and Mechanisms
- Nausea and vomiting management
- Airway Management and Intubation Techniques
- Tracheal and airway disorders
- Anesthesia and Neurotoxicity Research
- Connective tissue disorders research
- ATP Synthase and ATPases Research
- Multiple Sclerosis Research Studies
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Wnt/β-catenin signaling in development and cancer
- Myofascial pain diagnosis and treatment
- Cerebral Palsy and Movement Disorders
- Biotechnology and Related Fields
- Neurogenetic and Muscular Disorders Research
- Chronic Obstructive Pulmonary Disease (COPD) Research
Guy's and St Thomas' NHS Foundation Trust
2010-2024
Topiwala National Medical College & BYL Nair Charitable Hospital
2009-2024
Guy's Hospital
2006-2024
University of Manchester
2024
St Thomas' Hospital
2024
Manchester University NHS Foundation Trust
2023
Health Innovation Manchester
2023
St Mary's Hospital
2021-2022
Abstract Objective To determine whether whole genome sequencing can be used to define the molecular basis of suspected mitochondrial disease. Design Cohort study. Setting National Health Service, England, including secondary and tertiary care. Participants 345 patients with disorders recruited 100 000 Genomes Project in England between 2015 2018. Intervention Short read was performed. Nuclear variants were prioritised on gene panels chosen according phenotypes, ClinVar pathogenic/likely...
Chromatin is essentially an array of nucleosomes, each which consists the DNA double-stranded fiber wrapped around a histone octamer. This organization supports cellular processes such as replication, transcription, and repair in all eukaryotes. Human H4 encoded by fourteen canonical genes, differing at nucleotide level but encoding invariant protein. Here, we present cohort 29 subjects with de novo missense variants six genes (H4C3, H4C4, H4C5, H4C6, H4C9, H4C11) identified whole-exome...
Laparoscopic Cholecystectomy (LC) is the most frequently performed elective daycare surgery and provision of postoperative pain relief importance. After laparoscopic cholecystectomy shoulder abdominal causes considerable distress. Visceral during coughing, respiration mobilization increases morbidity, hospital stay costs.To compare analgesic efficacy intraperitoneally instilled equipotent concentrations bupivacaine ropivacaine versus placebo in relieving after when used as a part multimodal...
Percutaneous Nephrolithotomy (PCNL) is a widely used procedure to remove complex upper tract renal calculi by means of nephroscope. Although less invasive, PCNL associated with significant pain owing soft tissue injury. Most these patients have mild moderately compromised function. An anaesthesia plan that reduces intraoperative requirement anaesthetics, analgesics, muscle relaxants and postoperative systemic analgesics essential. Paravertebral Block (PVB) in combination general may be an...
Abstract Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders bone formation, resulting in low mass and an increased propensity to fracture. It exhibits broad spectrum clinical severity, ranging from multiple fractures utero perinatal death, normal adult stature fracture incidence. Extra‐skeletal features OI include blue sclera, hearing loss, skin hyperlaxity, joint hyperextensibility, dentinogenesis imperfecta. The proα1(I) proα2(I) chains collagen 1 are encoded by...
Marshall–Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation. Respiratory problems are a major cause of early morbidity mortality. Ocular have been mentioned in previous reports, but details limited. This report describes the clinical child with typical emphasis on visual function. She had megalocornea, hypoplastic optic discs was partially sighted. Aggressive management feeding...
Background: Endotracheal tubes cuffs are used to prevent gas leak and also pulmonary aspiration in mechanically ventilated patients. The commonly employed intubation techniques the use of inflation a constant pressure (25 cm H2O), sealing estimation cuff by finger palpation. However, volumes may cause tracheal morbidity. aim present study was compare effective seal incidence post-intubation airway complications between three techniques.Methods: 90 patients under N2O free general endotracheal...
Fetal anticonvulsant syndrome (FACS) describes the pattern of physical and developmental problems seen in those children exposed to certain antiepileptic drugs (AEDs) utero. The diagnosis FACS is a clinical one so excluding alternative diagnoses such as genetic disorders essential.We reviewed pathogenicity reported variants identified on exome sequencing Deciphering Developmental Disorders (DDD) Study 42 AEDs utero, but where other than was suspected. In addition, we analysed chromosome...
Biallelic loss-of-function (LoF) variants in CENPF gene are responsible for Strømme syndrome, a condition presenting with intestinal atresia, anterior ocular chamber anomalies, and microcephaly. Through an international collaboration, four individuals (three males one female) carrying biallelic variants, including two missense homozygous state LoF were identified by exome sequencing. All had variable degree of developmental delay/intellectual disability microcephaly (ranging from -2.9 SDS to...
Transnasal humidified rapid insufflation ventilatory exchange (THRIVE) is a valuable adjunct during apnoea. Conventional techniques of apnoeic anaesthesia have limitations. THRIVE helps to maintain oxygenation the periods in tubeless airway surgeries. We aimed evaluate shared airways using determine safe apnoea time. Two years retrospective data were collected at tertiary care centre, which included 60 patients whom was used for anaesthesia. appraised Data on oxygenation, haemodynamic...
We reported a case of school-going child, diagnosed with acute disseminated encephalomyelitis (ADEM) who presented symptoms such as high fever, hemiplegia and ataxia was referred for physiotherapeutic intervention. This report aims to document the assessment management ADEM from intensive care unit home setting by physical therapy. Also, child developed ventilator-associated pneumonia right lower motor neuron facial injury which paediatric Since then, continuing 8 months has helped be...
Genetic variants in ATP7A are associated with a spectrum of X-linked disorders. In descending order severity, these Menkes disease, occipital horn syndrome, and distal spinal muscular atrophy. After 30 years diagnostic investigation, we identified deep intronic variant four males from family affected to variable degrees by predominantly skeletal phenotype, featuring bowing long bones, elbow joints restricted mobility which dislocate frequently, coarse curly hair, chronic diarrhoea, motor...
Abstract Myocardial protection with volatile anesthetic agents have been suggested by multiple studies. These studies, however, are scattered and often limited to a particular aspect of cardiac anesthesia. Older inhalational like halothane is known cause significant hepatic damage in patients undergoing long duration surgeries while isoflurane marked vasodilating properties that also affects the coronary arteries leading “steal” phenomenon. Additionally, newer agents, sevoflurane desflurane,...
Background: Bladder tumours are the ninth most commonly diagnosed cancer worldwide. Transurethral resection of bladder (TURBT) plays a key role in treating cancer, but one serious complications is perforation caused by obturator nerve reex. Obturator reex can be prevented inducing block (ONB) after lumbar anesthesia. The present study was undertaken to compare effectiveness ultrasound guided ONB versus with peripheral stimulation (PNS) techniques TURBT. Method:A total 60 patients either...
Tetralogy of Fallot (ToF) is the most common form cyanotic congenital heart disease, occurring predominantly in childhood with a rare late presentation adults. prognosis OF ToF remains poor, especially those who do not undergo surgical correction. However, recent times, there significant improvement diseases and almost 85% patients are expected to survive till adulthood due early diagnosis appropriate medical management. These adult disease exhibit specific complex anatomic physiological...