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  1. AU="Jirina Zapletalova"
  2. AU=Sorbo Grazia
  3. AU="Banerjee, Swarnali"
  4. AU="Deng, Qiyuan"
  5. AU="Raghda H. Gouda"
  6. AU="Copin, Y."
  7. AU="Twomey, Bernadette"
  8. AU="Greendale, Gail A"
  9. AU="Haseli Mashhadi, Nazanin"
  10. AU="Pilecki, Z."
  11. AU="Alegado, Rosanna A"
  12. AU="Lv, Xinpeng"
  13. AU="Mare, Marzia"
  14. AU="Saleem, Nadia"
  15. AU="Garcia, F G"
  16. AU="Choi, Jong-Il"
  17. AU="Jandial, Tanvi"
  18. AU="Sartori, Chiara"
  19. AU="Pugsley, T A"
  20. AU=Passino Claudio
  21. AU="Ji, Ziwei"
  22. AU="Lim, K E"
  23. AU="Foresti, C."
  24. AU="Czimer, Dávid"
  25. AU="Nayak, Naren"
  26. AU="Khan, Jahidur Rahman"
  27. AU="Huber, Tobias B"
  28. AU="Özbek, Süha Süreyya"
  29. AU="Elujoba, Anthony A"
  30. AU="Lucas, Brian P"
  31. AU="Ngabo, Lucien"
  32. AU="M Elizabeth H. Hammond"
  33. AU="Poppe, Katrina"
  34. AU=Du Ping
  35. AU=Adorno E AU=Adorno E
  36. AU="Rehn, Alexandra"
  37. AU="Senff-Ribeiro, Andrea"

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  1. Artikel ; Online: Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies

    Pavlina Capkova / Zuzana Capkova / Peter Rohon / Katerina Adamová / Jirina Zapletalova

    PeerJ, Vol 8, p e

    2020  Band 10236

    Abstract: Background SHOX mutations have previously been described as causes of Léri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and idiopathic short stature. The loss of X chromosome—Turner syndrome or mosaic 45,X/46,XX or 46,XY—also leads to ...

    Abstract Background SHOX mutations have previously been described as causes of Léri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and idiopathic short stature. The loss of X chromosome—Turner syndrome or mosaic 45,X/46,XX or 46,XY—also leads to the heterozygous loss of SHOX in patients with short stature only or with features similar to LWD. The aim of this study was to assess the efficacy of the targeted screening for SHOX variants, which involved different methods in the laboratory analysis of short stature. We determined the significance and positive predictive value of short stature for the detection of SHOX variants. Methods Targeted screening for variants in SHOX involving MLPA, sequencing, karyotyping and FISH was performed in the short stature cohort (N = 174) and control cohort (N = 91). The significance of short stature and particular characteristics for the detection of SHOX variants was determined by Fisher’s exact test, and the probability of SHOX mutation occurrence was calculated using a forward/stepwise logistic regression model. Results In total, 27 and 15 variants influencing SHOX were detected in the short stature and control cohorts, respectively (p > 0.01). Sex chromosome aberrations and pathogenic CNV resulting in diagnosis were detected in eight (4.6%) and five (2.9%) patients of the short stature group and three (3.3%) and one (1.1%) individuals of the control group. VUS variants were discovered in 14 (8.0%) and 11 (12.1%) individuals of the short stature and control groups, respectively. MLPA demonstrated the detection rate of 13.22%, and it can be used as a frontline method for detection of aberrations involving SHOX. However, only mosaicism of monosomy X with a higher frequency of monosomic cells could be reliably discovered by this method. Karyotyping and FISH can compensate for this limitation; their detection rates in short stature group were 3.55% and 13.46% (N = 52), respectively. FISH proved to be more effective than karyotyping in the study as it could reveal ...
    Schlagwörter SHOX ; Short stature ; Leri-Weill dyschondrosteosis ; Turner syndrome ; Screening for mutations ; Idiopathic short stature ; Medicine ; R
    Thema/Rubrik (Code) 630
    Sprache Englisch
    Erscheinungsdatum 2020-11-01T00:00:00Z
    Verlag PeerJ Inc.
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: Acute lymphoblastic leukemia in a child with Leri-Weill syndrome and complete SHOX gene deletion

    Jana Volejnikova / Jirina Zapletalova / Marie Jarosova / Helena Urbankova / Petr Vojta / Eva Klaskova / Marshall S. Horwitz / Marian Hajduch / Vladimir Mihal

    Biomedical Papers, Vol 162, Iss 1, Pp 65-

    A Case Report

    2018  Band 70

    Abstract: Background: Leri-Weill syndrome (LWS) ranks among conditions with short stature homeobox gene (SHOX) haploinsufficiency. Data on possible association of SHOX aberrations with malignant diseases are scarce. Methods and Results: We report a unique case of ... ...

    Abstract Background: Leri-Weill syndrome (LWS) ranks among conditions with short stature homeobox gene (SHOX) haploinsufficiency. Data on possible association of SHOX aberrations with malignant diseases are scarce. Methods and Results: We report a unique case of an 8-year-old girl who was successfully treated for acute lymphoblastic leukemia (pre-B ALL, intermediate risk) and was subsequently diagnosed with LWS due to characteristic clinical appearance (short disproportionate stature, Madelung deformity of the wrist) and molecular genetic examination (complete deletion of SHOX). An identical SHOX deletion was identified also in the patient's mother. Leukemic cells of the patient were retrospectively examined by array comparative genomic hybridization (aCGH), which revealed five regions of deletions at chromosome X, including the SHOX gene locus. Conclusion: Growth retardation in children with hemato-oncologic malignancies cannot always be attributed to cytotoxic treatment and should be carefully evaluated, especially with regards to growth hormone therapy.
    Schlagwörter acute lymphoblastic leukemia (all) ; childhood ; leri-weill syndrome (lws) ; pseudoautosomal region (par1) ; shox gene ; Medicine ; R
    Sprache Englisch
    Erscheinungsdatum 2018-03-01T00:00:00Z
    Verlag Palacký University Olomouc, Faculty of Medicine and Dentistry
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  3. Artikel ; Online: Prospective study of hypothalamo-hypophyseal dysfunction in children and adolescents following traumatic brain injury

    David Krahulik / Darina Aleksijevic / Vratislav Smolka / Eva Klaskova / Petra Venhacova / Miroslav Vaverka / Vladimir Mihal / Jirina Zapletalova

    Biomedical Papers, Vol 161, Iss 1, Pp 80-

    2017  Band 85

    Abstract: Background and Aims: Retrospective studies of TBI have found a neuroendocrine dysfunction following traumatic brain injury in 23 to 60% of adults and 15 to 21% of children. Our aims were to determine the prevalence of hypothalamo-hypophyseal dysfunction ... ...

    Abstract Background and Aims: Retrospective studies of TBI have found a neuroendocrine dysfunction following traumatic brain injury in 23 to 60% of adults and 15 to 21% of children. Our aims were to determine the prevalence of hypothalamo-hypophyseal dysfunction in children following brain injury, assess its relationship to the type of injury and the course of the acute post-traumatic phase. Patients and Methods: Body development (growth, pubertal development, and skeletal maturity) were evaluated in 58 patients (21 girls) after a brain injury rated 3 to 12 on the Glasgow Coma Scale (GCS). The patients underwent standard endocrine tests - TSH, fT4, IGF-1, PRL, morning cortisol, FSH, LH, and testosterone in boys and estradiol in girls - in the early post-traumatic period (2 to 14 days; T0) and at 3, 6, and 12 months after the injury (T3, T6, and T12). Dynamic tests were carried out in patients with abnormalities in their clinical examination and/or laboratory results. An MRI was performed on all patients at T12. Results: The median age at the time of injury was 11.3 (0.5 to 18.7) years. Of the 58 patients, 23 had GCS < 8, corresponding to severe brain injury. At T0, diabetes insipidus (DI) was diagnosed in 12 patients, and the syndrome of inappropriate antidiuretic hormone secretion (SIADH) was found in 4 patients. Frequent hormonal changes simulated central hypothyroidism (in 45% of patients) and hypogonadotropic hypogonadism (in 25% of adolescents who were already pubertal at the time of injury > Tanner II). Examination at T3 (n = 58) confirmed a combined pituitary hormone deficiency in two boys and DI in another one. At T6 (n = 49), hormonal dysfunctions were diagnosed in two boys (precocious puberty and growth hormone deficiency). At T12 (n = 39), a new endocrine dysfunction was diagnosed in five patients (growth hormone deficiency in two, hypogonadotropic hypogonadism in two, and in one patient, already diagnosed with a growth hormone deficiency, central hypothyroidism, as well). Brain MRI revealed an empty sella in two patients with growth hormone deficiency. Patients with GCS < 8 had more symptoms of SIADH or DI in the early post-traumatic period 11/23 vs. patients with GCS of 8 to 13 (4/35), and more frequent hormonal disorder (6/23) than individuals with moderate trauma (3/35), P = 0.0135. The incidence of endocrine dysfunction at T0 significantly correlated with the severity of injury (P = 0.05), but it was not an indicator for the development of a late hormonal disorder. Conclusion: Within a year after injury, a hormonal disorder was found in 17.6% of the patients. Neuroendocrine dysfunction as a late consequence of craniocerebral trauma in children and adolescents was less frequent than in adults. Risk factors for its development are the gravity of the injury, brain scan pathology, and possibly the development of DI, SIADH, or CSWS in the acute post-traumatic phase.
    Schlagwörter traumatic brain injury ; children ; post-traumatic hormonal disorder ; growth hormone deficiency ; precocious puberty ; risk factors ; Medicine ; R
    Thema/Rubrik (Code) 610 ; 616
    Sprache Englisch
    Erscheinungsdatum 2017-03-01T00:00:00Z
    Verlag Palacký University Olomouc, Faculty of Medicine and Dentistry
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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