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  1. Article ; Online: Management of Retained Intraabdominal Gonads in Complete Androgen Insensitivity.

    Oni, Tijesunimi / Phulwani, Priya / Moote, Douglas / Dudley, Anne

    Urology

    2022  Volume 166, Page(s) e7–e8

    MeSH term(s) Androgen-Insensitivity Syndrome ; Androgens ; Gonads ; Humans ; Male ; Receptors, Androgen
    Chemical Substances Androgens ; Receptors, Androgen
    Language English
    Publishing date 2022-05-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 192062-5
    ISSN 1527-9995 ; 0090-4295
    ISSN (online) 1527-9995
    ISSN 0090-4295
    DOI 10.1016/j.urology.2022.04.027
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1142: 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)
    Zs.MO 275: Show issues

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  2. Article ; Online: Gender Dysphoria and Chronic Pain in Youth.

    Sayeem, Mohammed / Carter, Bridgette / Phulwani, Priya / Zempsky, William T

    Pediatrics

    2021  Volume 148, Issue 4

    Abstract: Chronic pain in youth with gender dysphoria (GD) is poorly understood. The aim of our study was to review the clinical presentation of 8 youth with GD in a multidisciplinary chronic pain clinic. A single center retrospective chart review was conducted to ...

    Abstract Chronic pain in youth with gender dysphoria (GD) is poorly understood. The aim of our study was to review the clinical presentation of 8 youth with GD in a multidisciplinary chronic pain clinic. A single center retrospective chart review was conducted to obtain information on demographics, clinical care, previous diagnoses, and validated clinical measures. We present the trajectory of pain in this population with treatment of GD. Recognition and treatment of GD in youth with pain may improve pain outcomes.
    MeSH term(s) Adolescent ; Child ; Chronic Pain/etiology ; Female ; Gender Dysphoria/complications ; Gender Dysphoria/therapy ; Headache/etiology ; Humans ; Male ; Retrospective Studies ; Spondylolysis/complications ; Transgender Persons
    Language English
    Publishing date 2021-09-24
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 207677-9
    ISSN 1098-4275 ; 0031-4005
    ISSN (online) 1098-4275
    ISSN 0031-4005
    DOI 10.1542/peds.2021-050128
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Um IV Zs.131: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 357: Show issues

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  3. Article ; Online: Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.

    Phulwani, Priya / Bergwitz, Clemens / Jaureguiberry, Graciana / Rasoulpour, Majjid / Estrada, Elizabeth

    American journal of medical genetics. Part A

    2011  Volume 155A, Issue 3, Page(s) 626–633

    Abstract: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25- ... ...

    Abstract Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. The patient's mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2-6 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis.
    MeSH term(s) Base Sequence ; Child, Preschool ; Familial Hypophosphatemic Rickets/complications ; Familial Hypophosphatemic Rickets/genetics ; Female ; Humans ; Hypercalciuria/complications ; Hypercalciuria/genetics ; Infant ; Infant, Newborn ; Male ; Molecular Sequence Data ; Mutation/genetics ; Nephrolithiasis/complications ; Nephrolithiasis/genetics ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Pregnancy ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Restriction Mapping ; Reverse Transcriptase Polymerase Chain Reaction ; Sodium-Phosphate Cotransporter Proteins, Type IIc/genetics
    Chemical Substances RNA, Messenger ; SLC34A3 protein, human ; Sodium-Phosphate Cotransporter Proteins, Type IIc
    Language English
    Publishing date 2011-02-22
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.33832
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1376/A: 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)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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