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  1. AU="Misgar, R A"
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  1. Article ; Online: Central diabetes insipidus (Infundibuloneuro hypophysitis): A late complication of COVID-19 infection.

    Misgar, R A / Rasool, A / Wani, A I / Bashir, M I

    Journal of endocrinological investigation

    2021  Volume 44, Issue 12, Page(s) 2855–2856

    MeSH term(s) Antidiuretic Agents/administration & dosage ; COVID-19/blood ; COVID-19/complications ; COVID-19/diagnosis ; COVID-19/physiopathology ; COVID-19/therapy ; Deamino Arginine Vasopressin/administration & dosage ; Diabetes Insipidus, Neurogenic/blood ; Diabetes Insipidus, Neurogenic/etiology ; Diabetes Insipidus, Neurogenic/physiopathology ; Diabetes Insipidus, Neurogenic/therapy ; Diagnosis, Differential ; Female ; Humans ; Hypophysitis/diagnosis ; Hypophysitis/physiopathology ; Hypophysitis/virology ; Magnetic Resonance Imaging/methods ; Middle Aged ; Pituitary Gland/diagnostic imaging ; SARS-CoV-2/isolation & purification ; Treatment Outcome
    Chemical Substances Antidiuretic Agents ; Deamino Arginine Vasopressin (ENR1LLB0FP)
    Language English
    Publishing date 2021-07-03
    Publishing country Italy
    Document type Case Reports ; Letter
    ZDB-ID 432272-1
    ISSN 1720-8386 ; 0391-4097 ; 1121-1369
    ISSN (online) 1720-8386
    ISSN 0391-4097 ; 1121-1369
    DOI 10.1007/s40618-021-01627-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1480: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: Cardiac structural and functional abnormalities in primary hyperparathyroidism.

    Purra, S / Lone, A A / Bhat, M H / Misgar, R A / Wani, A I / Bashir, M I / Masoodi, S R / Purra, W

    Journal of endocrinological investigation

    2021  Volume 45, Issue 2, Page(s) 327–335

    Abstract: Purpose: Studies on cardiac structural and functional abnormalities in primary hyperparathyroidism (PHPT) have yielded conflicting and inconsistent results. In this prospective case-control study, we sought to compare cardiac structure and function in ... ...

    Abstract Purpose: Studies on cardiac structural and functional abnormalities in primary hyperparathyroidism (PHPT) have yielded conflicting and inconsistent results. In this prospective case-control study, we sought to compare cardiac structure and function in symptomatic PHPT patients and controls.
    Methods: One hundred consecutive symptomatic PHPT patients and 113 matched controls underwent echocardiographic evaluation by the same operator.
    Results: Left ventricular mass index (LVMI) was significantly higher in patients as compared to controls, (median of 90.95 g/m
    Conclusions: Symptomatic patients with PHPT have substantial cardiac structural and functional abnormalities. These abnormalities include elevated LVMI, diastolic dysfunction, and aortic valve, mitral annular, septal and myocardial calcifications. We strongly suggest and conclude that the evaluation of PHPT patients should not only include traditional end organs like bones and kidneys but also the cardiovascular system in the form of echocardiography to detect subclinical cardiac dysfunction so that the cardiovascular health of such patients can be optimized.
    MeSH term(s) Calcinosis/blood ; Calcinosis/diagnostic imaging ; Calcinosis/etiology ; Calcium/blood ; Cardiomyopathies/diagnosis ; Cardiomyopathies/etiology ; Cardiomyopathies/physiopathology ; Case-Control Studies ; Early Diagnosis ; Echocardiography/methods ; Echocardiography/statistics & numerical data ; Female ; Heart Valve Diseases/etiology ; Heart Valve Diseases/pathology ; Heart Valve Diseases/physiopathology ; Heart Ventricles/diagnostic imaging ; Heart Ventricles/pathology ; Humans ; Hyperparathyroidism, Primary/complications ; Hyperparathyroidism, Primary/diagnosis ; Male ; Middle Aged ; Organ Size ; Parathyroid Hormone/blood
    Chemical Substances Parathyroid Hormone ; Calcium (SY7Q814VUP)
    Language English
    Publishing date 2021-07-29
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 432272-1
    ISSN 1720-8386 ; 0391-4097 ; 1121-1369
    ISSN (online) 1720-8386
    ISSN 0391-4097 ; 1121-1369
    DOI 10.1007/s40618-021-01645-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1480: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article: Amelogenesis Imperfecta with Distal Renal Tubular Acidosis: A Novel Syndrome?

    Misgar, R A / Hassan, Z / Wani, A I / Bashir, M I

    Indian journal of nephrology

    2017  Volume 27, Issue 3, Page(s) 225–227

    Abstract: Amelogenesis imperfecta (AI) is a heterogeneous group of inherited dental enamel defects. It has rarely been reported in association with multiorgan syndromes and metabolic disorders. The metabolic disorders that have been reported in association with AI ...

    Abstract Amelogenesis imperfecta (AI) is a heterogeneous group of inherited dental enamel defects. It has rarely been reported in association with multiorgan syndromes and metabolic disorders. The metabolic disorders that have been reported in association with AI include hypocalciuria, impaired urinary concentrating ability, and Bartter-like syndrome. In literature, only three cases of AI and distal renal tubular acidosis (dRTA) have been described: two cases in adults and a solitary case in the pediatric age group. Here, we report a child with AI presenting with dRTA; to the best of our knowledge, our reported case is the only second such case in pediatric age group. Our case highlights the importance of recognizing the possibility of renal abnormalities in patients with AI as it will affect the long-term prognosis.
    Language English
    Publishing date 2017-05-09
    Publishing country India
    Document type Case Reports
    ZDB-ID 2134388-3
    ISSN 1998-3662 ; 0971-4065
    ISSN (online) 1998-3662
    ISSN 0971-4065
    DOI 10.4103/0971-4065.202826
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Primary hyperparathyroidism and pancreatitis.

    Misgar, R A / Bhat, M H / Rather, T A / Masoodi, S R / Wani, A I / Bashir, M I / Wani, M A / Malik, A A

    Journal of endocrinological investigation

    2020  Volume 43, Issue 10, Page(s) 1493–1498

    Abstract: Purpose: The true association between primary hyperparathyroidism (PHPT) and pancreatitis continues to be controversial. In this study, we present clinical data, investigative profile, management and follow-up of PHPT patients with pancreatitis and ... ...

    Abstract Purpose: The true association between primary hyperparathyroidism (PHPT) and pancreatitis continues to be controversial. In this study, we present clinical data, investigative profile, management and follow-up of PHPT patients with pancreatitis and compare this group with PHPT patients without pancreatitis.
    Methods: Records of 242 patients with PHPT managed at our center over 24 years were retrospectively analyzed for demographic and laboratory data. The diagnosis of pancreatitis was entertained in the presence of at least two of the three following features: abdominal pain, levels of serum amylase greater than three times the normal or characteristic features at imaging.
    Results: Fifteen (6.19%) of the 242 consecutive patients with PHPT had had pancreatitis. Fourteen patients (93.3%) had acute pancreatitis (AP), while one patient had chronic calcific pancreatitis. Over half (8 of 14) of the patients with AP had at least two episodes of pancreatitis. Pancreatitis was the presenting symptom in 14 (93.3%) patients. None of the pancreatitis cases had additional risk factors for pancreatitis. PHPT patients with pancreatitis had significantly higher serum calcium and ALP than PHPT patients without pancreatitis. After successful parathyroidectomy, 14 patients had no further attacks of pancreatitis during a median follow-up of 16 months (range 2-41 months), while recurrence of pancreatitis was seen in one patient.
    Conclusions: We conclude that pancreatitis can be the only presenting complaint of PHPT. Our study highlights the importance of fully investigating for PHPT in any pancreatitis patient with high normal or raised serum calcium level, especially in the absence of other common causes of pancreatitis.
    MeSH term(s) Adult ; Aged ; Calcium/blood ; Case-Control Studies ; Child ; Diagnosis, Differential ; Female ; Humans ; Hyperparathyroidism, Primary/complications ; Hyperparathyroidism, Primary/diagnosis ; Hyperparathyroidism, Primary/epidemiology ; Hyperparathyroidism, Primary/therapy ; Male ; Middle Aged ; Pancreatitis/complications ; Pancreatitis/diagnosis ; Pancreatitis/epidemiology ; Pancreatitis/therapy ; Parathyroid Hormone/blood ; Parathyroidectomy ; Retrospective Studies ; Young Adult
    Chemical Substances Parathyroid Hormone ; Calcium (SY7Q814VUP)
    Language English
    Publishing date 2020-04-06
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 432272-1
    ISSN 1720-8386 ; 0391-4097 ; 1121-1369
    ISSN (online) 1720-8386
    ISSN 0391-4097 ; 1121-1369
    DOI 10.1007/s40618-020-01233-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1480: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  5. Article ; Online: Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations.

    Rungroj, N / Nettuwakul, C / Sawasdee, N / Sangnual, S / Deejai, N / Misgar, R A / Pasena, A / Khositseth, S / Kirdpon, S / Sritippayawan, S / Vasuvattakul, S / Yenchitsomanus, P T

    Clinical genetics

    2018  Volume 94, Issue 5, Page(s) 409–418

    Abstract: Hereditary distal renal tubular acidosis (dRTA) is a rare genetic disease that is caused by mutations in SLC4A1, ATP6V1B1, or ATP6V0A4. However, there are many families with hereditary dRTA in whom the disease-causing genes are unknown. Accordingly, we ... ...

    Abstract Hereditary distal renal tubular acidosis (dRTA) is a rare genetic disease that is caused by mutations in SLC4A1, ATP6V1B1, or ATP6V0A4. However, there are many families with hereditary dRTA in whom the disease-causing genes are unknown. Accordingly, we performed whole exome sequencing and genetic studies of the members of a family with autosomal recessive dRTA of an unknown genetic etiology. Here, we report compound heterozygous pathogenic variations in tryptophan-aspartate repeat domain 72 (WDR72) (c.1777A>G [p.R593G] and c.2522T>A [p.L841Q]) in three affected siblings of a family with dRTA. Both variants segregated with dRTA in the family and were not observed in normal control subjects. Homologous modeling and in silico mutagenesis indicated that R593G and L841Q alter the H-bond formations in the nearby residues, affecting the WDR72 protein structure. All these evidences indicate that the identified WDR72 variations were probably to have caused hereditary dRTA in the reported family. In addition, homozygous nonsense mutation (c.2686C>T [p.R896X]) was identified in another family, strongly supporting the causal role of WDR72 in dRTA. Based on our literature review, WDR72 mutations associated with dRTA have not been previously described. This is the first identification of pathogenic variations in WDR72 as a cause of hereditary dRTA.
    MeSH term(s) Acidosis, Renal Tubular/diagnosis ; Acidosis, Renal Tubular/genetics ; Adolescent ; Adult ; Amino Acid Sequence ; Biomarkers ; Case-Control Studies ; Child ; Computational Biology/methods ; DNA Mutational Analysis ; Female ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Models, Molecular ; Mutation ; Pedigree ; Phenotype ; Protein Conformation ; Proteins/chemistry ; Proteins/genetics ; Whole Exome Sequencing ; Young Adult
    Chemical Substances Biomarkers ; Proteins ; WDR72 protein, human
    Language English
    Publishing date 2018-08-09
    Publishing country Denmark
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.13418
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 413: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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