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  1. AU=Srivastava Shalabh
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  1. Artikel: EP08 A case of granulomatosis with polyangiitis complicated by COVID-19: challenges in diagnosis and management

    Rajabally, Hanaa Morley Catherine Srivastava Shalabh

    Rheumatology Advances in Practice

    Schlagwörter covid19
    Verlag WHO
    Dokumenttyp Artikel
    Anmerkung WHO #Covidence: #900483
    Datenquelle COVID19

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  2. Artikel ; Online: Outcomes from the Northeast England cohort of autosomal dominant polycystic kidney disease (ADPKD) patients on tolvaptan.

    Gkekas, Eleftherios / Tang, Tsz Yau Tiffany / Green, Alan / Davidson, Han / Fraser, Rachel / Sayer, John A / Srivastava, Shalabh

    Frontiers in nephrology

    2022  Band 2, Seite(n) 984165

    Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is a cause of end-stage kidney disease (ESKD). The vasopressin V2-receptor antagonist tolvaptan has been shown within randomized clinical trials to slow down decline of kidney function in patients with ...

    Abstract Autosomal dominant polycystic kidney disease (ADPKD) is a cause of end-stage kidney disease (ESKD). The vasopressin V2-receptor antagonist tolvaptan has been shown within randomized clinical trials to slow down decline of kidney function in patients with ADPKD at risk of rapid progression. We performed a retrospective review of a Northeast England cohort of adult ADPKD patients who had been established on tolvaptan therapy to determine its efficacy in a real-world clinic setting. Other inclusion criteria involved a pre-treatment decline in greater than 2.5 ml/min/1.73m
    Sprache Englisch
    Erscheinungsdatum 2022-09-23
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ISSN 2813-0626
    ISSN (online) 2813-0626
    DOI 10.3389/fneph.2022.984165
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.

    Molinari, Elisa / Srivastava, Shalabh / Dewhurst, Rebecca M / Sayer, John A

    BMC nephrology

    2020  Band 21, Heft 1, Seite(n) 435

    Abstract: Background: PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood. ARPKD can also ... ...

    Abstract Background: PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood. ARPKD can also present in adulthood with milder phenotypes. In this study, we describe a 24-year-old woman with atypical polycystic kidney, no family history of renal disease and no obvious extra-renal manifestations who was referred for genetic investigation.
    Methods: We used a combination of next generation sequencing, Sanger sequencing and RNA and microscopy studies performed on urine-derived renal epithelial cells (URECs) to provide a genetic diagnosis of ARPKD.
    Results: A next generation sequencing panel of cystic ciliopathy genes allowed the identification of two heterozygous sequence changes in PKHD1 (c.6900C > T; p.(Asn2300=) and c.7964A > C; p.(His2655Pro)). The pathogenicity of the synonymous PKHD1 variant is not clear and requires RNA studies, which cannot be carried out efficiently on RNA extracted from proband blood, due to the low expression levels of PKHD1 in lymphocytes. Using URECs as a source of kidney-specific RNA, we show that PKHD1 is alternatively spliced around exon 43, both in control and proband URECs. The variant p.(Asn2300=) shifts the expression ratio in favour of a shorter, out-of-frame transcript. To further study the phenotypic consequence of these variants, we investigated the ciliary phenotype of patient URECs, which were abnormally elongated and presented multiple blebs along the axoneme.
    Conclusions: We confirm the power of URECs as a tool for functional studies on candidate variants in inherited renal disease, especially when the expression of the gene of interest is restricted to the kidney and we describe, for the first time, ciliary abnormalities in ARPKD patient cells.
    Mesh-Begriff(e) Alleles ; DNA Mutational Analysis/methods ; Epithelial Cells ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Kidney/diagnostic imaging ; Male ; Pedigree ; Polycystic Kidney, Autosomal Recessive/diagnostic imaging ; Polycystic Kidney, Autosomal Recessive/genetics ; Polymerase Chain Reaction ; Receptors, Cell Surface/genetics ; Tomography, X-Ray Computed ; Urine ; Young Adult
    Chemische Substanzen PKHD1 protein, human ; Receptors, Cell Surface
    Sprache Englisch
    Erscheinungsdatum 2020-10-15
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2041348-8
    ISSN 1471-2369 ; 1471-2369
    ISSN (online) 1471-2369
    ISSN 1471-2369
    DOI 10.1186/s12882-020-02094-z
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel: Nephronophthisis.

    Srivastava, Shalabh / Sayer, John A

    Journal of pediatric genetics

    2016  Band 3, Heft 2, Seite(n) 103–114

    Abstract: Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads to end-stage renal disease in those affected. Recognition and diagnosis requires clinical suspicion, biochemical evaluation, renal imaging and historically, renal ...

    Abstract Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads to end-stage renal disease in those affected. Recognition and diagnosis requires clinical suspicion, biochemical evaluation, renal imaging and historically, renal biopsy. Modern molecular genetics now allows a diagnosis to be made in a significant proportion of cases. Mutations in NPHP1 account for 20% of cases, but the disease is genetically heterogeneous with at least 20 different genes associated with NPHP. Recent developments in the fields of genetics and proteomics have led to increased understanding of the underlying pathogenetic defects. Almost all NPHP genes encode proteins, which localize to the primary cilia, basal body and centrosome. NPHP is a therefore considered to be a ciliopathy, and can be part of a broad spectrum of clinical disease that includes extra-renal manifestations including retinal degeneration, cerebellar ataxia, liver fibrosis and situs inversus. In this review, we discuss the historical descriptions of NPHP in the context of more recent developments in our understanding of this disease.
    Sprache Englisch
    Erscheinungsdatum 2016-08-22
    Erscheinungsland Germany
    Dokumenttyp Journal Article
    ISSN 2146-4596
    ISSN 2146-4596
    DOI 10.3233/PGE-14086
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: EP08 A case of granulomatosis with polyangiitis complicated by COVID-19

    Rajabally, Hanaa / Morley, Catherine / Srivastava, Shalabh

    Rheumatology Advances in Practice

    challenges in diagnosis and management

    2020  Band 4, Heft Supplement_1

    Abstract: Abstract Case report - Introduction Granulomatosis with Polyangiitis (GPA) is a rare small- to medium-vessel vasculitis associated with anti-neutrophil cytoplasmic autoantibody (ANCA). Its multi-systemic features include pulmonary, ear, nose, and throat ( ...

    Abstract Abstract Case report - Introduction Granulomatosis with Polyangiitis (GPA) is a rare small- to medium-vessel vasculitis associated with anti-neutrophil cytoplasmic autoantibody (ANCA). Its multi-systemic features include pulmonary, ear, nose, and throat (ENT), renal, and neurological manifestations. Its incidence is estimated to be 10.2 cases per million population. It is challenging to diagnose when its symptoms are treated in isolation from one another. This case highlights the difficulty in diagnosing GPA in a patient with respiratory symptoms during the Coronavirus Disease 2019 (COVID-19) pandemic and describes the challenges of managing it in the context of a subsequent COVID-19 infection as the mainstay of treatment remains immunosuppression. Case report - Case description A 78-year-old female non-smoker with a history of leg ulcers developed a 3-month history of cough and haemoptysis and was treated in primary care for suspected sinus and chest infections. She then presented to Accident and Emergency twice for the same symptoms and was discharged after having her antibiotics changed. 2 weeks later, she presented for the third time with cough, ongoing haemoptysis, conjunctivitis in the right eye, pain over the right side of her head, and discharge from her right ear. She was admitted as she was pyrexical, tachycardic and her CRP was 60. COVID-19 swabs were negative. ENT team recommended IV ceftriaxone and metronidazole for suspected orbital cellulitis. Blood cultures remained negative. CT sinuses with contrast showed right sided thrombosis of transverse sinus and bilateral mastoid effusion of the middle ear. Following neurology review, she was anticoagulated with dalteparin. A day later, she was transferred to the Respiratory ward and dropped her Haemoglobin level to 70. Her chest radiograph showed diffuse alveolar haemorrhage and CT images showed widespread bilateral peri-hilar consolidation. A rheumatology opinion was sought and vasculitic screen showed ANCA 268, and PR3 >177. Her urinary protein/creatinine ratio was elevated at 90. Rheumatology team confirmed multi-systemic GPA and recommended starting oral Prednisolone 60 mg daily. After the renal team was consulted, she was moved to a side-room and started on IV Methylprednisolone (pulsed with three doses), along with cyclophosphamide and rituximab. Dalteparin was discontinued. 2 days later, she desaturated, and became pyrexical. Repeat COVID-19 swabs were positive. Three Consultants agreed that Plasma Exchange and Non-Invasive Ventilation (NIV) would be inappropriate. A Do Not Attempt Resuscitation form was signed, and prognosis was discussed with the patient and her 78-year-old husband who requested to visit. Patient deteriorated and unfortunately died 6 days later. Case report - Discussion This case is interesting because it highlights the diagnostic challenge of GPA. Retrospectively, it may be noted that doctors persisted in treating suspected infection although the patient continued to deteriorate. However, a diagnosis should be re-considered if the patient does not respond to treatment and it is important to consider vasculitis as a cause of haemoptysis. Anticoagulation was started since the benefits were considered to outweigh the risks as her haemoptysis was of small volume. The patient soon developed pulmonary haemorrhage, so the risks of anticoagulation should not be underestimated in vasculitis. The Rheumatology team’s cautious approach to immunosuppression was in stark contrast to the renal team’s aggressive approach. The Renal team believed that concerns about protecting the patient from COVID-19 when she was negative from this infection should not take precedence over appropriate immunosuppression from a potentially fatal vasculitis. The patient was admitted at the start of the COVID-19 pandemic and was negative for COVID-19 on admission. She was nursed in a bay on the Respiratory ward where she later became COVID-19 positive. This raises questions about whether the earlier test was a false negative result or whether her infection was hospital-acquired. Infection control guidelines were changing rapidly at the start of the COVID-19 pandemic. The decision to avoid plasma exchange was based on the findings of the PEXIVAS trial. NIV was avoided as it required a full-face mask to minimize particle dispersion but would pose an asphyxiation risk as patient was coughing up blood. Finally, the team learnt to be flexible in these extraordinary circumstances when dealing with the end-of-life decisions of the COVID-19 positive patient. Although her husband was a vulnerable person because of his age, he was given the opportunity to visit while wearing Personal Protective Equipment and agreed to self-isolate for two weeks. Case report - Key learning points This case helped me appreciate the complexity of deciding to immunosuppress an already severely ill patient in the context of the COVID-19 pandemic. I recognised that the patient had a poor prognosis with or without immunosuppression and our role as healthcare professionals was to give her the best chance of recovery. The conference will allow me to interact with other colleagues and discuss what they would do in this situation as our Rheumatology and Renal teams had different approaches. After further reading on false negative results, we found that Johns Hopkins researchers found that testing people for SARS-CoV2 too early in the course of infection is likely to result in a false negative test even though they may eventually test positive for the virus. I have also learnt about the PEXIVAS trial which found that the addition of plasma exchange to standard therapy does not reduce the risk for all-cause mortality among patients with severe ANCA-associated vasculitis. Moreover, a reduced-dose regimen of glucocorticoids is non-inferior to a standard-dose protocol, while reducing the risk for serious infections. Diffuse alveolar haemorrhage (DAH) is not treatable with arterial embolization or bronchoscopic methods due to the diffuse nature of the bleeding. Extracorporeal membrane oxygenation (ECMO) has been used to support patients with DAH but the use of ECMO is controversial due to the need for anticoagulation. The conference will help me deepen my understanding of epidemic rheumatology which will be useful for my clinical practice going forward, especially if there is a second wave of the COVID-19 pandemic. I am keen to use this event to engage with other clinicians on immunosuppression in the context of infection so that I may confidently manage similarly complex cases in the future.
    Schlagwörter covid19
    Sprache Englisch
    Verlag Oxford University Press (OUP)
    Erscheinungsland uk
    Dokumenttyp Artikel ; Online
    ISSN 2514-1775
    DOI 10.1093/rap/rkaa052.007
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  6. Artikel: From disease modelling to personalised therapy in patients with

    Molinari, Elisa / Srivastava, Shalabh / Sayer, John A / Ramsbottom, Simon A

    F1000Research

    2017  Band 6, Seite(n) 669

    Abstract: Mutations that give rise to premature termination codons are a common cause of inherited genetic diseases. When transcripts containing these changes are generated, they are usually rapidly removed by the cell through the process of nonsense-mediated ... ...

    Abstract Mutations that give rise to premature termination codons are a common cause of inherited genetic diseases. When transcripts containing these changes are generated, they are usually rapidly removed by the cell through the process of nonsense-mediated decay. Here we discuss observed changes in transcripts of the centrosomal protein CEP290 resulting not from degradation, but from changes in exon usage. We also comment on a landmark paper (Drivas
    Sprache Englisch
    Erscheinungsdatum 2017
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 2699932-8
    ISSN 2046-1402
    ISSN 2046-1402
    DOI 10.12688/f1000research.11553.1
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel: Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.

    Srivastava, Shalabh / Molinari, Elisa / Raman, Shreya / Sayer, John A

    Frontiers in pediatrics

    2018  Band 5, Seite(n) 287

    Abstract: Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young adults. Molecular genetic studies have identified more than 20 genes ... ...

    Abstract Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young adults. Molecular genetic studies have identified more than 20 genes underlying this disorder, whose protein products are all related to cilia, centrosome, or mitotic spindle function. In around 15% of cases, there are additional features of a ciliopathy syndrome, including retinal defects, liver fibrosis, skeletal abnormalities, and brain developmental disorders. Alongside, gene identification has arisen molecular mechanistic insights into the disease pathogenesis. The genetic causes of NPHP are discussed in terms of how they help us to define treatable disease pathways including the cyclic adenosine monophosphate pathway, the mTOR pathway, Hedgehog signaling pathways, and DNA damage response pathways. While the underlying pathology of the many types of NPHP remains similar, the defined disease mechanisms are diverse, and a personalized medicine approach for therapy in NPHP patients is likely to be required.
    Sprache Englisch
    Erscheinungsdatum 2018-01-05
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2017.00287
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  8. Artikel ; Online: From disease modelling to personalised therapy in patients with CEP290 mutations [version 1; referees

    Elisa Molinari / Shalabh Srivastava / John A. Sayer / Simon A. Ramsbottom

    F1000Research, Vol

    2 approved]

    2017  Band 6

    Abstract: Mutations that give rise to premature termination codons are a common cause of inherited genetic diseases. When transcripts containing these changes are generated, they are usually rapidly removed by the cell through the process of nonsense-mediated ... ...

    Abstract Mutations that give rise to premature termination codons are a common cause of inherited genetic diseases. When transcripts containing these changes are generated, they are usually rapidly removed by the cell through the process of nonsense-mediated decay. Here we discuss observed changes in transcripts of the centrosomal protein CEP290 resulting not from degradation, but from changes in exon usage. We also comment on a landmark paper (Drivas et al. Sci Transl Med. 2015) where modelling this process of exon usage may be used to predict disease severity in CEP290 ciliopathies, and how understanding this process may potentially be used for therapeutic benefit in the future.
    Schlagwörter Genomics ; Medicine ; R ; Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2017-05-01T00:00:00Z
    Verlag F1000 Research Ltd
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  9. Artikel: Complete atherosclerotic occlusion of infra-renal aorta and bilateral renal artery stenosis.

    Srivastava, Shalabh / Abeygunasekara, Sumith C

    NDT plus

    2010  Band 4, Heft 4, Seite(n) 273

    Sprache Englisch
    Erscheinungsdatum 2010-04-04
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 2410383-4
    ISSN 1753-0784
    ISSN 1753-0784
    DOI 10.1093/ndtplus/sfr037
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  10. Artikel ; Online: Association of Tissue Transglutaminase with Nerve Growth Factor, Prolidase Activity and Oxidative Stress in Celiac Patients

    Akhilesh Kumar Verma / Ankur Sharma / BK Das / Shalabh Srivastava / Ragini Srivastava

    Journal of Clinical and Diagnostic Research, Vol 12, Iss 11, Pp BC01-BC

    2018  Band 04

    Abstract: Introduction: Celiac Disease (CD) is an autoimmune gastrointestinal disorder; it is characterised by chronic inflammation and elevation of tissue Transglutaminase Immunoglobulin-A (tTG-IgA). Nerve Growth Factor (NGF) and prolidase enzyme are elevated in ... ...

    Abstract Introduction: Celiac Disease (CD) is an autoimmune gastrointestinal disorder; it is characterised by chronic inflammation and elevation of tissue Transglutaminase Immunoglobulin-A (tTG-IgA). Nerve Growth Factor (NGF) and prolidase enzyme are elevated in different autoimmune and chronic inflammatory diseases; however, the status of NGF and prolidase enzyme remains unexplored in celiac patients till date. Aim: To evaluate the correlation of tTG-IgA to NGF, Serum Prolidase Activity (SPA) and oxidative stress in the CD patients. Materials and Methods: The study was conducted on a total of 92 subjects, 46 patients with CD and remaining 46 healthy controls. The tTG-IgA and NGF were measured with the use of ELISA kit. SPA and oxidative stress were measured spectrophotometrically. Results: The tTG-IgA, NGF, SPA, Total Oxidant Status (TOS) and Oxidative Stress Index (OSI) were significantly elevated in the serum of patients as compared to controls (all p<0.001); however, Total Antioxidant Status (TAS) was significantly decreased (p<0.001). The tTG-IgA showed a positive correlation with NGF, SPA, TOS and OSI in the patients (all p<0.001); while it was negatively correlated to TAS (p<0.001). Conclusion: The present study concluded that elevated NGF, prolidase enzyme, tTG and oxidative stress might be associated with the pathogenesis of celiac disease.
    Schlagwörter prolidase enzyme ; total antioxidant status ; total oxidant status ; Medicine ; R
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2018-11-01T00:00:00Z
    Verlag JCDR Research and Publications Private Limited
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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