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  1. Article: Current state of knowledge on the biology and breeding of the solitary bee - Osmia bicornis

    Splitt, Aleksandra / Schulz, Michał / Skórka, Piotr

    Journal of apicultural research

    2022  Volume 61, Issue 2, Page(s) 163

    Language English
    Document type Article
    ZDB-ID 281228-9
    ISSN 0021-8839
    Database Current Contents Nutrition, Environment, Agriculture

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  2. Article ; Online: Surgical Treatment of Patients with Sacroiliac Joint Syndrome: Comparative Study of Two Implants.

    Splitt, Theresa / Pflugmacher, Robert / Soliman, Osama / Abd Allah, Hany Mohamed / Hering, Rudolf / Kasapovic, Adnan / Rössler, Philip / Koch, Ernst M W / Bornemann, Rahel

    Zeitschrift fur Orthopadie und Unfallchirurgie

    2023  

    Abstract: The treatment of patients with ISJ dysfunction is difficult due to the multifactorial causes of pain and various problems in clarification. Treatment includes physical therapy, corticosteroids, prolotherapy, radiofrequency denervation and sacroiliac ... ...

    Title translation Operative Behandlung von Patienten mit Iliosakralgelenksyndrom: Vergleichsstudie zweier Implantate.
    Abstract The treatment of patients with ISJ dysfunction is difficult due to the multifactorial causes of pain and various problems in clarification. Treatment includes physical therapy, corticosteroids, prolotherapy, radiofrequency denervation and sacroiliac joint fusion. A new option for the surgical treatment of ISG dysfunction is the Torpedo implant system. For a safe fusion, only 2 implants are needed, which are available in lengths of 30-50 mm. The new implant system has been tested in pilot studies for efficacy and biocompatibility with good results. For further documentation for the Torpedo implant system, a comparative study against the iFuse system was carried out.Two different implants were used: Group 1: Deltacor Torpedo, Group 2: iFuse implants (Si-Bone). The data generated during admission and subsequent check-ups (VAS, ODI, opioid use) were entered into an evaluation file set up for this purpose. Follow-up appointments were set at 1 month, 3, 6 and 12 months postoperatively.The data of 65 patients were evaluated comparatively. In all comparisons, only very small effect sizes were found with regard to the differences in the decrease in pain intensities, so that equivalent effectiveness of the two methods could initially be postulated from a clinical point of view. Most patients in both groups reported taking opioids to treat pain before surgery. According to the decrease in pain intensity, opioid treatment could be discontinued in some patients after the operation. After 12 months, the number of patients treated with opioids decreases to 23% in group 1 and to 17% in group 2. The success of the fusions with the two methods can also be proven by image documentation, from which the position of the implants can also be clearly recognised. In no case was there any loosening.Overall, the evaluation of this study allows the conclusion that both implant systems can be successfully used for the treatment of patients with ISJ syndrome. The present results should be confirmed in further comparative studies with the proposed evaluation methods.
    Language German
    Publishing date 2023-11-22
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 2280747-0
    ISSN 1864-6743 ; 1438-941X ; 1864-6697 ; 0044-3220
    ISSN (online) 1864-6743 ; 1438-941X
    ISSN 1864-6697 ; 0044-3220
    DOI 10.1055/a-2188-3398
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Jasmonoyl-L-Tryptophan Disrupts IAA Activity through the AUX1 Auxin Permease.

    Staswick, Paul / Rowe, Martha / Spalding, Edgar P / Splitt, Bessie L

    Frontiers in plant science

    2017  Volume 8, Page(s) 736

    Abstract: Amide-linked conjugates between tryptophan (Trp) and jasmonic (JA) or indole-3-acetic (IAA) acids interfered with gravitropism and other auxin-dependent activities in Arabidopsis, but the mechanism was unclear. To identify structural features necessary ... ...

    Abstract Amide-linked conjugates between tryptophan (Trp) and jasmonic (JA) or indole-3-acetic (IAA) acids interfered with gravitropism and other auxin-dependent activities in Arabidopsis, but the mechanism was unclear. To identify structural features necessary for activity several additional Trp conjugates were synthesized. The phenylacetic acid (PAA) conjugate was active, while several others were not. Common features of active conjugates is that they have ring structures that are linked to Trp through an acetic acid side chain, while longer or shorter linkages are inactive or less active. A dominant mutant, called
    Language English
    Publishing date 2017-05-08
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2711035-7
    ISSN 1664-462X
    ISSN 1664-462X
    DOI 10.3389/fpls.2017.00736
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Operative Behandlung von Patienten mit Iliosakralgelenksyndrom: Vergleichsstudie zweier Implantate

    Splitt, Theresa / Pflugmacher, Robert / Soliman, Osama / Abd Allah, Hany Mohamed / Hering, Rudolf / Kasapovic, Adnan / Rössler, Philip / Koch, Ernst M. W. / Bornemann, Rahel

    Zeitschrift für Orthopädie und Unfallchirurgie

    2023  

    Abstract: Die Behandlung von Patienten mit ISG-Dysfunktion ist aufgrund der multifaktoriellen Schmerzursachen und vielfältigen Probleme bei der Abklärung schwierig. Die Behandlung umfasst physikalische Therapie, Kortikosteroide, Prolotherapie, ... ...

    Abstract Die Behandlung von Patienten mit ISG-Dysfunktion ist aufgrund der multifaktoriellen Schmerzursachen und vielfältigen Probleme bei der Abklärung schwierig. Die Behandlung umfasst physikalische Therapie, Kortikosteroide, Prolotherapie, Hochfrequenzdenervation und Iliosakralgelenkfusion. Eine neue Option für die operative Behandlung von ISG-Dysfunktionen stellt das Torpedo-Implantatsystem dar. Für eine sichere Fusion werden nur 2 Implantate benötigt, die in Längen von 30–50 mm angeboten werden. Das neue Implantatsystem wurde in Pilotstudien auf Wirksamkeit und Biokompatibilität mit guten Resultaten geprüft. Zur weiteren Dokumentation für das Torpedo-Implantatsystem wurde eine Vergleichsstudie gegen das iFuse-System durchgeführt. Es wurden 2 unterschiedliche Implantate verwendet: Gruppe 1: Deltacor Torpedo, Gruppe 2: iFuse-Implantate (Si-Bone). Die bei der Aufnahme und bei den nachfolgenden Kontrolluntersuchungen erstellten Daten (VAS, ODI, Opioidverbrauch) wurden in eine zu diesem Zweck eingerichtete Auswertungsdatei eingetragen. Als Nachuntersuchungstermine wurden 1 Monat, 3, 6 und 12 Monate postoperativ festgelegt. Es wurden die Daten von 65 Patienten vergleichend ausgewertet. Bei allen Vergleichen zeigten sich hinsichtlich der Unterschiede im Rückgang der Schmerzintensitäten nur sehr geringe Effektstärken, sodass unter klinischen Aspekten zunächst eine gleichwertige Wirksamkeit beider Methoden postuliert werden konnte. Die meisten Patienten beider Gruppen gaben an, vor der Operation Opioide zur Schmerzbehandlung eingenommen zu haben. Entsprechend dem Rückgang der Schmerzintensität konnte bereits nach der Operation bei einigen Patienten die Opioidbehandlung abgesetzt werden. Nach 12 Monaten verringerte sich die Zahl der mit Opioiden behandelten Patienten in Gruppe 1 auf 23% und in Gruppe 2 auf 17%. Die Erfolge der Fusionen mit beiden Verfahren lassen sich zusätzlich an einer Bilddokumentation belegen, aus der auch die Lage der Implantate deutlich erkannt werden kann. In keinem Fall war eine Lockerung festzustellen. Insgesamt lässt die Auswertung dieser Studie das Resümee zu, dass beide Implantatsysteme erfolgreich zur Behandlung von Patienten mit ISG-Syndrom eingesetzt werden können. In weiteren Vergleichsstudien mit den vorgeschlagenen Auswertungsmethoden sollten die vorliegenden Resultate überprüft werden.

    The treatment of patients with ISJ dysfunction is difficult due to the multifactorial causes of pain and various problems in clarification. Treatment includes physical therapy, corticosteroids, prolotherapy, radiofrequency denervation and sacroiliac joint fusion. A new option for the surgical treatment of ISG dysfunction is the Torpedo implant system. For a safe fusion, only 2 implants are needed, which are available in lengths of 30–50 mm. The new implant system has been tested in pilot studies for efficacy and biocompatibility with good results. For further documentation for the Torpedo implant system, a comparative study against the iFuse system was carried out. Two different implants were used: Group 1: Deltacor Torpedo, Group 2: iFuse implants (Si-Bone). The data generated during admission and subsequent check-ups (VAS, ODI, opioid use) were entered into an evaluation file set up for this purpose. Follow-up appointments were set at 1 month, 3, 6 and 12 months postoperatively. The data of 65 patients were evaluated comparatively. In all comparisons, only very small effect sizes were found with regard to the differences in the decrease in pain intensities, so that equivalent effectiveness of the two methods could initially be postulated from a clinical point of view. Most patients in both groups reported taking opioids to treat pain before surgery. According to the decrease in pain intensity, opioid treatment could be discontinued in some patients after the operation. After 12 months, the number of patients treated with opioids decreases to 23% in group 1 and to 17% in group 2. The success of the fusions with the two methods can also be proven by image documentation, from which the position of the implants can also be clearly recognised. In no case was there any loosening. Overall, the evaluation of this study allows the conclusion that both implant systems can be successfully used for the treatment of patients with ISJ syndrome. The present results should be confirmed in further comparative studies with the proposed evaluation methods.
    Keywords Iliosakralgelenk ; Vergleichsstudie ; Iliosakralgelenksyndrom ; sacroiliac joint ; Sacroiliac Joint Syndrome ; comparative study
    Language German
    Publishing date 2023-11-22
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 2280747-0
    ISSN 1864-6743 ; 1438-941X ; 1864-6697 ; 0044-3220
    ISSN (online) 1864-6743 ; 1438-941X
    ISSN 1864-6697 ; 0044-3220
    DOI 10.1055/a-2188-3398
    Database Thieme publisher's database

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  5. Article ; Online: Dry skin and blistering in childhood.

    Dubois, A / Arefi, M / Splitt, M P / Leech, S / Natarajan, S / Rajan, N

    Clinical and experimental dermatology

    2016  Volume 41, Issue 7, Page(s) 828–830

    Language English
    Publishing date 2016-10
    Publishing country England
    Document type Journal Article
    ZDB-ID 195504-4
    ISSN 1365-2230 ; 0307-6938
    ISSN (online) 1365-2230
    ISSN 0307-6938
    DOI 10.1111/ced.12895
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: PD-L1, TIM-3, and CTLA-4 Blockade Fails To Promote Resistance to Secondary Infection with Virulent Strains of Toxoplasma gondii.

    Splitt, Samantha D / Souza, Scott P / Valentine, Kristen M / Castellanos, Brayan E / Curd, Andrew B / Hoyer, Katrina K / Jensen, Kirk D C

    Infection and immunity

    2018  Volume 86, Issue 9

    Abstract: T cell exhaustion is a state of hyporesponsiveness that develops during many chronic infections and cancer. Neutralization of inhibitory receptors, or "checkpoint blockade," can reverse T cell exhaustion and lead to beneficial prognoses in experimental ... ...

    Abstract T cell exhaustion is a state of hyporesponsiveness that develops during many chronic infections and cancer. Neutralization of inhibitory receptors, or "checkpoint blockade," can reverse T cell exhaustion and lead to beneficial prognoses in experimental and clinical settings. Whether checkpoint blockade can resolve lethal acute infections is less understood but may be beneficial in vaccination protocols that fail to elicit sterilizing immunity. Since a fully protective vaccine for any human parasite has yet to be developed, we explored the efficacy of checkpoint inhibitors in a mouse model of
    MeSH term(s) Animals ; B7-H1 Antigen/metabolism ; CD4-Positive T-Lymphocytes/immunology ; CD8-Positive T-Lymphocytes/immunology ; CTLA-4 Antigen/metabolism ; Disease Models, Animal ; Female ; Hepatitis A Virus Cellular Receptor 2/metabolism ; Interferon-gamma/metabolism ; Mice ; Mice, Inbred C57BL ; Toxoplasma/pathogenicity ; Toxoplasmosis, Animal/immunology
    Chemical Substances B7-H1 Antigen ; CTLA-4 Antigen ; Cd274 protein, mouse ; Havcr2 protein, mouse ; Hepatitis A Virus Cellular Receptor 2 ; Interferon-gamma (82115-62-6)
    Language English
    Publishing date 2018-08-22
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 218698-6
    ISSN 1098-5522 ; 0019-9567
    ISSN (online) 1098-5522
    ISSN 0019-9567
    DOI 10.1128/IAI.00459-18
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Expression of cancer stem cell markers is prognostic in metastatic gastroesophageal adenocarcinoma.

    Brungs, Daniel / Lochhead, Alistair / Iyer, Anita / Illemann, Martin / Colligan, Peter / Hirst, Nicholas G / Splitt, Ashleigh / Liauw, Winston / Vine, Kara L / Pathmanandavel, Sarennya / Carolan, Martin / Becker, Therese M / Aghmesheh, Morteza / Ranson, Marie

    Pathology

    2019  Volume 51, Issue 5, Page(s) 474–480

    Abstract: ... overall survival (OS) in univariate [hazard ratio (HR) 2.9, 95% confidence interval (CI) 1.3-6.9, p=0.008 ... and multivariate analyses (HR 2.5, 95%CI 1.1-6.2, p=0.04). ALDH1 expression was significantly ... associated with poorer OS in univariate (HR 2.4, 95% CI 1.01-5.7, p=0.04) analysis but was not significant ...

    Abstract Gastroesophageal adenocarcinoma is a common and highly lethal malignancy. Cancer stem cells (CSCs) have a key role in the development and progression of metastatic disease. While expression of CSC markers CD44, CD133 and aldehyde dehydrogenase 1 (ALDH1) in locoregional gastroesophageal cancer is known to be associated with poorer clinical outcomes, the significance of CSC marker expression in distal metastatic disease is unknown. We investigated the clinicopathological and prognostic associations of the CSC markers, CD44, CD133, and ALDH1, on metastatic deposits from gastroesophageal adenocarcinomas, and evaluated the association of CSC expression with urokinase-type plasminogen activator receptor (uPAR) expression. Of the 36 patients included in the study, 16 (44%) were positive for CD44, 13 (36%) were positive for CD133, and 26 (72%) were positive for ALDH1. CD44 expression was significantly associated with poorer overall survival (OS) in univariate [hazard ratio (HR) 2.9, 95% confidence interval (CI) 1.3-6.9, p=0.008] and multivariate analyses (HR 2.5, 95%CI 1.1-6.2, p=0.04). ALDH1 expression was significantly associated with poorer OS in univariate (HR 2.4, 95% CI 1.01-5.7, p=0.04) analysis but was not significant in multivariate analysis. Both CD44 and ALDH1 expression were significantly associated with uPAR expression. We found no association between CD133 expression and OS. CD44 expression on metastatic disease from gastroesophageal adenocarcinomas is an independent prognostic marker associated with poorer OS. These results expand current evidence to support the role of CSCs as biomarkers in metastatic gastroesophageal cancer.
    MeSH term(s) Adenocarcinoma/secondary ; Adult ; Aged ; Biomarkers, Tumor/analysis ; Esophageal Neoplasms/pathology ; Esophagogastric Junction/pathology ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Metastasis/pathology ; Neoplastic Stem Cells/pathology ; Prognosis ; Stomach Neoplasms/pathology
    Chemical Substances Biomarkers, Tumor
    Language English
    Publishing date 2019-06-20
    Publishing country England
    Document type Journal Article
    ZDB-ID 7085-3
    ISSN 1465-3931 ; 0031-3025
    ISSN (online) 1465-3931
    ISSN 0031-3025
    DOI 10.1016/j.pathol.2019.03.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Congruence between the prioritisation of conservation problems at the local and national scale: an evaluation by environmental scientists in Poland.

    Skórka, Piotr / Banach, Agata / Banasiak, Marek / Bokalska-Rajba, Joanna / Bonk, Maciej / Czachura, Paweł / García-Rodríguez, Alberto / Gaspar, Gabriela / Hordyńska, Natalia / Kaczmarczyk, Adriana / Kapłoniak, Kamila / Kociński, Maciej / Łopata, Barbara / Mazur, Edyta / Mirzaei, Mohamadreza / Misiewicz, Anna / Parres, Aida / Przystałkowska, Anna / Pustkowiak, Sylwia /
    Raczyński, Mateusz / Sadura, Iwona / Splitt, Aleksandra / Stanek, Małgorzata / Sternalski, Jakub / Wierzbicka, Alicja / Wiorek, Marcin / Zduńczyk, Paweł

    Environmental science and pollution research international

    2021  Volume 28, Issue 27, Page(s) 35317–35326

    Abstract: The anthropogenic pressure on the environment depends on the spatial scale. It is crucial to prioritise conservation actions at different spatial scales to be cost-efficient. Using horizon scanning with the Delphi technique, we asked what the most ... ...

    Abstract The anthropogenic pressure on the environment depends on the spatial scale. It is crucial to prioritise conservation actions at different spatial scales to be cost-efficient. Using horizon scanning with the Delphi technique, we asked what the most important conservation problems are in Poland at local and national scales. Twenty-six participants, PhD students, individually identified conservation issues important at the local and national scales. Each problem was then scored and classified into broader categories during the round discussions. Text mining, cross-sectional analyses, and frequency tests were used to compare the context, importance scores, and frequency of identified problems between the two scales, respectively. A total of 115 problems were identified at the local scale and 122 at the national scale. Among them, 30 problems were identical for both scales. Importance scores were higher for national than local problems; however, this resulted from different sets of problems identified at the two scales. Problems linked to urbanisation, education, and management were associated with the local scale. Problems related to policy, forestry, and consumerism were more frequent at the national scale. An efficient conservation policy should be built hierarchically (e.g. introducing adaptive governance), implementing solutions at a national scale with the flexibility to adjust for local differences and to address the most pressing issues.
    MeSH term(s) Biodiversity ; Conservation of Natural Resources ; Cross-Sectional Studies ; Forestry ; Humans ; Poland
    Language English
    Publishing date 2021-06-07
    Publishing country Germany
    Document type Editorial
    ZDB-ID 1178791-0
    ISSN 1614-7499 ; 0944-1344
    ISSN (online) 1614-7499
    ISSN 0944-1344
    DOI 10.1007/s11356-021-14741-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

    Faundes, Víctor / Jennings, Martin D / Crilly, Siobhan / Legraie, Sarah / Withers, Sarah E / Cuvertino, Sara / Davies, Sally J / Douglas, Andrew G L / Fry, Andrew E / Harrison, Victoria / Amiel, Jeanne / Lehalle, Daphné / Newman, William G / Newkirk, Patricia / Ranells, Judith / Splitt, Miranda / Cross, Laura A / Saunders, Carol J / Sullivan, Bonnie R /
    Granadillo, Jorge L / Gordon, Christopher T / Kasher, Paul R / Pavitt, Graham D / Banka, Siddharth

    Nature communications

    2021  Volume 12, Issue 1, Page(s) 833

    Abstract: The structure of proline prevents it from adopting an optimal position for rapid protein synthesis. Poly-proline-tract (PPT) associated ribosomal stalling is resolved by highly conserved eIF5A, the only protein to contain the amino acid hypusine. We show ...

    Abstract The structure of proline prevents it from adopting an optimal position for rapid protein synthesis. Poly-proline-tract (PPT) associated ribosomal stalling is resolved by highly conserved eIF5A, the only protein to contain the amino acid hypusine. We show that de novo heterozygous EIF5A variants cause a disorder characterized by variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism. Yeast growth assays, polysome profiling, total/hypusinated eIF5A levels and PPT-reporters studies reveal that the variants impair eIF5A function, reduce eIF5A-ribosome interactions and impair the synthesis of PPT-containing proteins. Supplementation with 1 mM spermidine partially corrects the yeast growth defects, improves the polysome profiles and restores expression of PPT reporters. In zebrafish, knockdown eif5a partly recapitulates the human phenotype that can be rescued with 1 µM spermidine supplementation. In summary, we uncover the role of eIF5A in human development and disease, demonstrate the mechanistic complexity of EIF5A-related disorder and raise possibilities for its treatment.
    MeSH term(s) Adolescent ; Amino Acid Sequence ; Animals ; Child ; Developmental Disabilities/genetics ; Developmental Disabilities/metabolism ; Developmental Disabilities/pathology ; Embryo, Nonmammalian ; Female ; Gene Expression Regulation, Developmental ; Humans ; Lysine/analogs & derivatives ; Lysine/genetics ; Lysine/metabolism ; Male ; Microcephaly/genetics ; Microcephaly/metabolism ; Microcephaly/pathology ; Micrognathism/genetics ; Micrognathism/metabolism ; Micrognathism/pathology ; Peptide Initiation Factors/deficiency ; Peptide Initiation Factors/genetics ; Peptides/genetics ; Peptides/metabolism ; Protein Biosynthesis ; Protein Conformation ; Protein Isoforms/deficiency ; Protein Isoforms/genetics ; RNA-Binding Proteins/genetics ; Ribosomes/genetics ; Ribosomes/metabolism ; Saccharomyces cerevisiae/drug effects ; Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae/growth & development ; Saccharomyces cerevisiae/metabolism ; Saccharomyces cerevisiae Proteins/genetics ; Saccharomyces cerevisiae Proteins/metabolism ; Sequence Alignment ; Sequence Homology, Amino Acid ; Spermidine/pharmacology ; Zebrafish ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism ; Eukaryotic Translation Initiation Factor 5A
    Chemical Substances Peptide Initiation Factors ; Peptides ; Protein Isoforms ; RNA-Binding Proteins ; Saccharomyces cerevisiae Proteins ; Zebrafish Proteins ; polyproline (25191-13-3) ; hypusine (3874VXF092) ; Lysine (K3Z4F929H6) ; Spermidine (U87FK77H25)
    Language English
    Publishing date 2021-02-05
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-021-21053-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: OTX2

    Celse, Tristan / Tingaud-Sequeira, Angèle / Dieterich, Klaus / Siegfried, Geraldine / Lecaignec, Cédric / Bouneau, Laurence / Fannemel, Madeleine / Salaun, Gaelle / Laffargue, Fanny / Martinez, Guillaume / Satre, Véronique / Vieville, Gaelle / Bidart, Marie / Soussi Zander, Cecilia / Turesson, Ann-Charlotte / Splitt, Miranda / Reboul, Dorothee / Chiesa, Jean / Khau Van Kien, Philippe /
    Godin, Manon / Gruchy, Nicolas / Goel, Himanshu / Palmer, Elizabeth / Demetriou, Kalliope / Shalhoub, Carolyn / Rooryck, Caroline / Coutton, Charles

    Journal of medical genetics

    2022  Volume 60, Issue 6, Page(s) 620–626

    Abstract: Background: Oculo-auriculo-vertebral spectrum (OAVS) is the second most common cause of head and neck malformations in children after orofacial clefts. OAVS is clinically heterogeneous and characterised by a broad range of clinical features including ... ...

    Abstract Background: Oculo-auriculo-vertebral spectrum (OAVS) is the second most common cause of head and neck malformations in children after orofacial clefts. OAVS is clinically heterogeneous and characterised by a broad range of clinical features including ear anomalies with or without hearing loss, hemifacial microsomia, orofacial clefts, ocular defects and vertebral abnormalities. Various genetic causes were associated with OAVS and copy number variations represent a recurrent cause of OAVS, but the responsible gene often remains elusive.
    Methods: We described an international cohort of 17 patients, including 10 probands and 7 affected relatives, presenting with OAVS and carrying a 14q22.3 microduplication detected using chromosomal microarray analysis. For each patient, clinical data were collected using a detailed questionnaire addressed to the referring clinicians. We subsequently studied the effects of
    Results: We defined a 272 kb minimal common region that only overlaps with the
    Conclusions: Our results indicate that proper
    MeSH term(s) Humans ; Animals ; Goldenhar Syndrome/genetics ; Zebrafish/genetics ; Cleft Lip ; DNA Copy Number Variations/genetics ; Cleft Palate ; Otx Transcription Factors/genetics
    Chemical Substances OTX2 protein, human ; Otx Transcription Factors
    Language English
    Publishing date 2022-11-11
    Publishing country England
    Document type Journal Article
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg-2022-108678
    Database MEDical Literature Analysis and Retrieval System OnLINE

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