A5047113805- Ion Transport and Channel Regulation
- Parathyroid Disorders and Treatments
- Potassium and Related Disorders
- Genetic Syndromes and Imprinting
- Spaceflight effects on biology
- Renal function and acid-base balance
- Biomedical Research and Pathophysiology
- Sodium Intake and Health
- Electrolyte and hormonal disorders
- Bipolar Disorder and Treatment
- Glycogen Storage Diseases and Myoclonus
- Bone health and treatments
- Diversity and Career in Medicine
- Multiple Myeloma Research and Treatments
- Healthcare Systems and Challenges
- Magnesium in Health and Disease
- Vitamin K Research Studies
- Mitochondrial Function and Pathology
- Space Science and Extraterrestrial Life
- SARS-CoV-2 and COVID-19 Research
- Kidney Stones and Urolithiasis Treatments
- Drug-Induced Ocular Toxicity
- Genetics, Aging, and Longevity in Model Organisms
- Dental Education, Practice, Research
- Gastroesophageal reflux and treatments
University College London
2018-2024
The Royal Free Hospital
2018-2022
Roland Hill (United Kingdom)
2022
Royal Free London NHS Foundation Trust
2021
Abstract Missions into Deep Space are planned this decade. Yet the health consequences of exposure to microgravity and galactic cosmic radiation (GCR) over years-long missions on indispensable visceral organs such as kidney largely unexplored. We performed biomolecular (epigenomic, transcriptomic, proteomic, epiproteomic, metabolomic, metagenomic), clinical chemistry (electrolytes, endocrinology, biochemistry) morphometry (histology, 3D imaging, miRNA-ISH, tissue weights) analyses using...
ABSTRACT Background Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate anecdotally been Gitelman syndrome. In this cross-sectional study, we assessed PTH homeostasis a large of salt-losing tubulopathies. Methods Clinical laboratory data 589 were provided by members the European Rare Kidney Diseases Reference Network (ERKNet) Society for Paediatric Nephrology (ESPN). Results A total 285 304 included analysis....
ABSTRACT X-linked proximal tubulopathies are rare diseases that predominantly affect men. Women generally carriers and clinical or biochemical manifestations usually absent mild. We present the case of a young woman who presented with full phenotype Dent disease type 1 due to de novo mutation in CLCN5 gene skewed X-chromosome inactivation. Although cases overt 2 Lowe syndrome women have been described literature, our knowledge this is first 1.
Sodium intake is correlated with the development of hypertension. Guyton's principals suggest that 24-hour urinary sodium excretion reflects ingestion over same period. urine collections are arduous to collect, so many centers use spot measurements instead. We compared matched electrolyte measurements.We examined 419 hypertensive patients from UCL Complex Hypertension Clinic. 77 had and complete serum biochemistry examine.We urinary; concentration, Na/Cr ratio, FENa, Kawasaki Tanaka...
Osteoporosis commonly causes vertebral collapse fractures. We present a patient with multiple fractures in the context of severe osteoporosis, who, course investigation for intractable spine and hip pain, was found to have an IgA myeloma. At 2 months post diagnosis, she discharged home continue outpatient chemotherapy.
A renal transplant recipient aged 68 years experienced multiple complications after an initial good graft function from a deceased donor transplant. Late in the first week, patient was oliguric with hematuria; failed week 2 development of hematoma rupture artery aneurysm. He had recurrent bleed internal iliac site and subsequently developed painful dark patches on his leg, distal to where been. Histology explanted skin biopsies demonstrated Aspergillus flavus; this also grown culture...
Fumaric acid esters (FAEs) are used to treat chronic plaque psoriasis. Fumarate is a crucial component of the Krebs cycle and mitochondrial function. Proximal tubule cells have high energy demands rely on aerobic respiration. tubular dysfunction can cause renal Fanconi syndrome acute kidney injury. We sought better understand mechanism for this in context FAE therapy. describe case series 10 patients with FAE-associated syndrome. Patients were diagnosed managed at tertiary disorder clinic,...
Abstract Background and hypothesis Gordon syndrome (also pseudohypoaldosteronism type II (PHAII) or Familial Hyperkalemia with Hypertension (FHHt)) is a genetic condition characterised by hypertension, hyperkalaemia, hyperchloraemic metabolic acidosis hypercalciuria caused an activation of the thiazide-sensitive sodium-chloride cotransporter (NCC, encoded SLC12A3 ) in distal convoluted tubule kidney. Thiazides rescue electrolyte abnormalities however, it not known whether they decrease...
Abstract Background and Aims Fanconi-Bickel syndrome is an ultra-rare genetic disease characterized by SLC2A2 mutation encoding for the basolateral glucose transporter (GLUT2) in proximal tubule of nephron. This defective transport ultimately leads to accumulation glycogen dysfunction cells. manifests clinically as renal Fanconi eventually kidney failure. Systemic complications injury include metabolic acidosis, bone demineralization and, some not completely elucidated reasons, dysglycemia....
[...]by March 2020 our hospital had rapidly built a “pod” in its car park for the expected small number of cases SARS-CoV-2 infection who would be tested and managed without risk to other patients staff. Back 2005, it was already known that spike protein coronavirus causing SARS (severe ARDS), SARS-CoV-1, bound angiotensin-converting enzyme 2 (ACE2) gain entry infect cells [1], this contributes lung injury seen [2]. Knowing this, there has been theoretical concern treated with an ACE...
Abstract Background and Aims Hypertension is frequently associated with hypercalciuria1, nephrolithiasis2 low bone mineral density. Familial Hyperkalaemic (FHHt) causes hypercalciuria3, although complications of this are not reported. Method We examined a cohort 9 patients genetically confirmed FHHt. Biochemical, radiological, clinical data was obtained in before after thiazide treatment. All gave informed consent. The study had ethics committee approval. Data were compared using paired t...
<title>Abstract</title> Missions into Deep Space are planned this decade. Yet the health consequences of exposure to microgravity and galactic cosmic radiation (GCR) over years-long missions on indispensable visceral organs such as kidney largely unexplored. We performed biomolecular (epigenomic, transcriptomic, proteomic, epiproteomic, metabolomic, metagenomic), clinical chemistry (electrolytes, endocrinology, biochemistry) morphometry (histology, 3D imaging, miRNA-ISH, tissue weights)...
<h3>Context</h3> In 2017 a new programme was established to support four junior doctors as 'London Clinical Senate Fellows', in partnership with Faculty of Medical Leadership and Management (FMLM). London is one NHS England regions, covering population 8 million people. The source advice commissioners other stakeholders the region. wished engage trainees provide them training leadership at system level London. <h3>Intervention</h3> aims fellowship are twofold. First, improve Forum through...
Hypertension is the most important modifiable risk factor for death worldwide. Finding novel model mechanisms blood-pressure (BP) regulation an goal and Mendelian syndromes have been very helpful in that regard. Pseudohypoparathyroidism type 1B (PHP1B) example which affected individuals are invariably hypertensive unknown reasons. We encountered a 48 year-old woman with severe, five-drug-resistant, hypertension. Her father two aunts were also severely hypertensive. young sons developed...
Abstract Background Distinguishing patients with the inherited salt-losing tubulopathies (SLT), Gitelman or Bartter syndrome (GS BS) from wildtype (WT) who purge is difficult. We decided to identify clinical/biochemical characteristics which correctly classify SLT. Methods 66 possible SLT were recruited a prospective observational cohort study at UCL Renal Tubular Clinic (London). 31 datapoints recorded on each patient. All genotyped for pathogenic mutations in genes cause SLT; 39 had...