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  • 1
    In: Pediatric Infectious Disease Journal, Ovid Technologies (Wolters Kluwer Health), Vol. 42, No. 2 ( 2023-02), p. 125-129
    Abstract: Although severe COVID-19 in children is rare, those with certain pre-existing health conditions are more prone to severe disease. Monoclonal antibodies (mAbs) against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are potent antiviral agents that reduce adverse clinical outcomes in adults, but are commonly not approved for use in pediatric patients. Methods: We retrospectively evaluated mAb treatment in children 〈 12 years of age or 〈 40kg with SARS-CoV-2 infection between January 1, 2021, and March 7, 2022, in 12 tertiary care centers in 3 European countries. Results: We received data from 53 patients from Austria, Denmark and Germany. Median age was 5.4 years [0–13.8, interquartile range (IQR) = 6.2], and median body weight was 20 kg (3–50.1, IQR = 13). The most frequent SARS-CoV-2 variant in this study, if known, was Omicron, followed by Delta and Alpha. Pre-existing conditions included immunodeficiency, malignancy, hematologic disease, cardiac disease, chronic lung disease, chronic liver disease, kidney disease and diabetes. Forty-two patients received sotrovimab (79%), 9 casirivimab/imdevimab (17%) and 2 bamlanivimab (4%). All but 1 patient survived. Median duration of hospital stay was 3 days (0–56, IQR = 6). Seven patients required treatment in an intensive care unit, and 5 required high-flow nasal cannula treatment. Potential side effects included neutropenia (6/53, 11%), lymphopenia (3/53, 6%), nausea or vomiting (2/53, 4%), rise of alanine transaminase (1/53, 2%) and hypotonia (1/53, 2%). Conclusions: MAb treatment was well tolerated by children in this cohort.
    Type of Medium: Online Resource
    ISSN: 0891-3668
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2023
    detail.hit.zdb_id: 2020216-7
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  • 2
    Online Resource
    Online Resource
    Georg Thieme Verlag KG ; 2019
    In:  Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere Vol. 47, No. 06 ( 2019-12), p. 402-410
    In: Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere, Georg Thieme Verlag KG, Vol. 47, No. 06 ( 2019-12), p. 402-410
    Abstract: Gegenstand und Ziel Die belastungsabhängige metabolische Myopathie beim Deutschen Jagdterrier ist eine autosomal-rezessive Erbkrankheit, die aufgrund einer Punktmutation zu einem Enzymdefekt der sehr langkettigen Acyl-CoA-Dehydrogenase führt und klinisch durch belastungsabhängige Schwäche, schwere Myalgien und Myoglobinurie charakterisiert ist. In dieser Studie wurde der klinische Verlauf der Erkrankung bei 9 betroffenen Deutschen Jagdterriern über 1 Jahr untersucht. Die Behandlung der Hunde umfasste die orale Supplementierung von L-Carnitin und Koenzym Q10 sowie eine Diät mit hohem Kohlenhydratgehalt und einem niedrigen Anteil an langkettigen Fettsäuren. Material und Methode Die 9 Hunde mit nachgewiesenem Gendefekt wurden bei Auftreten der ersten Symptome (Messzeitpunkt 1, MZP1) und 1 Jahr später (Messzeitpunkt 2, MZP2) klinisch-neurologisch untersucht und es erfolgte eine Blutuntersuchung mit Analyse hämatologischer und klinisch-chemischer Parameter sowie der Konzentration des natriuretischen Peptids Typ B (NT-proBNP). Ergebnisse Zum MZP2 zeigten die Hunde, wie bereits zum MZP1, nach Belastung ein steifes Gangbild, Muskelschwäche und -schmerz und hatten einen dunkelbraun verfärbten Urin. Bei den hämatologischen Parametern und der NT-proBNP-Konzentration ergaben sich, wie zum MZP1, keine Abweichungen vom Referenzbereich. Die Aktivitäten der Kreatinkinase und Alanin-Aminotransferase unterschieden sich statistisch nicht signifikant zwischen beiden MZP (pCK = 0,31, pALT = 0,64). Nach Auswertung einer Besitzerbefragung und der klinisch-neurologischen Untersuchung der Hunde ließ sich im Rahmen der Verlaufsuntersuchung keine Verbesserung der myopathischen Beschwerden feststellen. Schlussfolgerung und klinische Relevanz Die orale Supplementierung von L-Carnitin und Koenzym Q10 sowie spezielle diätetische Maßnahmen über 1 Jahr führten zu keiner Verbesserung der klinischen Symptomatik oder der untersuchten Laborparameter. Die Tiere zeigten keine progressive Verschlechterung der Symptomatik im Vergleich zur Erstvorstellung. Die Prognose ist jedoch als vorsichtig zu bezeichnen, da Daten zum Langzeitverlauf über einige Jahre fehlen. Unsere Ergebnisse bilden eine Grundlage für weitere Forschungen zu Lipidspeichermyopathien, insbesondere mit Fokus auf die belastungsabhängige metabolische Myopathie des Deutschen Jagdterriers, deren Therapie und eine entsprechende Zuchthygiene.
    Type of Medium: Online Resource
    ISSN: 1434-1239 , 2567-5842
    Language: German
    Publisher: Georg Thieme Verlag KG
    Publication Date: 2019
    SSG: 22
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  • 3
    Online Resource
    Online Resource
    Springer Science and Business Media LLC ; 2022
    In:  European Journal of Pediatrics Vol. 181, No. 11 ( 2022-08-27), p. 3831-3838
    In: European Journal of Pediatrics, Springer Science and Business Media LLC, Vol. 181, No. 11 ( 2022-08-27), p. 3831-3838
    Abstract: This study is a prospective evaluation of the validity of a Manchester triage system (MTS) modification for detecting under-triaged pediatric patients with congenital heart disease (CHD). Children with CHD visiting the emergency unit of the Department of Pediatrics and Adolescent Medicine, University Hospital Vienna in 2014 were included. The MTS modification updated the prioritization of patients with complex syndromic diseases, specific symptoms related to chronic diseases, decreased general condition (DGC), profound language impairment, unknown medical history, or special needs. A four-level outcome severity index based on diagnostic and therapeutic interventions, admission to hospital, and follow-up strategies was defined as a reference standard for the correct clinical classification of the MTS urgency level. Of the 19,264 included children, 940 had CHD. Of this group, 266 fulfilled the inclusion criteria for the modified triage method. The MTS modification was significantly more often applied in under-triaged (65.9%) than correctly or over-triaged (25%) children with CHD ( p -value χ 2 test  〈  0.0001, OR 5.848, 95% CI: 3.636–9.6). Conclusion: The MTS urgency level upgrade modification could reduce under-triage in children with CHD. Applying a safety strategy concept to the MTS could mitigate under-triage in such a high-risk patient group. What is Known: •  The Manchester triage system is considered to be valid and reliable but tends to over-triage. • A study by Seiger et al. showed poor performance in children with chronic illnesses, especially in children with cardiovascular diseases. What is New: •  The MTS modification with one urgency level upgrade could decrease under-triage in children with congenital heart disease. •  As reference standard a four level outcome severity index (OSI) was established to include diagnostic investigations, medical interventions, hospital admission or follow up visits in the assessment.
    Type of Medium: Online Resource
    ISSN: 1432-1076
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 2647723-3
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  • 4
    In: G3 Genes|Genomes|Genetics, Oxford University Press (OUP), Vol. 8, No. 5 ( 2018-05-01), p. 1545-1554
    Abstract: Several enzymes are involved in fatty acid oxidation, which is a key process in mitochondrial energy production. Inherited defects affecting any step of fatty acid oxidation can result in clinical disease. We present here an extended family of German Hunting Terriers with 10 dogs affected by clinical signs of exercise induced weakness, muscle pain, and suspected rhabdomyolysis. The combination of clinical signs, muscle histopathology and acylcarnitine analysis with an elevated tetradecenoylcarnitine (C14:1) peak suggested a possible diagnosis of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD). Whole genome sequence analysis of one affected dog and 191 controls revealed a nonsense variant in the ACADVL gene encoding acyl-CoA dehydrogenase very long chain, c.1728C & gt;A or p.(Tyr576*). The variant showed perfect association with the phenotype in the 10 affected and more than 500 control dogs of various breeds. Pathogenic variants in the ACADVL gene have been reported in humans with similar myopathic phenotypes. We therefore considered the detected variant to be the most likely candidate causative variant for the observed exercise induced myopathy. To our knowledge, this is the first description of this disease in dogs, which we propose to name exercise induced metabolic myopathy (EIMM), and the identification of the first canine pathogenic ACADVL variant. Our findings provide a large animal model for a known human disease and will enable genetic testing to avoid the unintentional breeding of affected offspring.
    Type of Medium: Online Resource
    ISSN: 2160-1836
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2018
    detail.hit.zdb_id: 2629978-1
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  • 5
    In: Proceedings of the National Academy of Sciences, Proceedings of the National Academy of Sciences, Vol. 114, No. 10 ( 2017-03-07), p. 2669-2674
    Abstract: The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described. A fully penetrant recessive 4-bp deletion was identified in the DIRAS family GTPase 1 ( DIRAS1 ) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization.
    Type of Medium: Online Resource
    ISSN: 0027-8424 , 1091-6490
    RVK:
    RVK:
    Language: English
    Publisher: Proceedings of the National Academy of Sciences
    Publication Date: 2017
    detail.hit.zdb_id: 209104-5
    detail.hit.zdb_id: 1461794-8
    SSG: 11
    SSG: 12
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  • 6
    In: Journal of Veterinary Internal Medicine, Wiley, Vol. 35, No. 3 ( 2021-05), p. 1455-1465
    Abstract: Shaking puppy syndrome is commonly attributed to abnormal myelination of the central nervous system. Hypothesis/Objectives To report the long‐term clinical course and the imaging characteristics of hypomyelinating leukodystrophy in German Shepherd dogs. Animals and Methods Three related litters with 11 affected dogs. Results The 11 affected dogs experienced coarse, side‐to‐side tremors of the head and trunk, which interfered with normal goal‐oriented movements and disappeared at rest. Signs were noticed shortly after birth. Nine dogs were euthanized, 3 dogs underwent pathological examination, and 2 littermates were raised by their breeder. Tremors improved gradually until 6 to 7 months of age. Adult dogs walked with severe residual pelvic limb ataxia. One dog developed epilepsy with tonic‐clonic seizures at 15 months of age. Conventional magnetic resonance imaging (MRI) disclosed homogenous hyperintense signal of the entire subcortical white matter in 3 affected 7‐week‐old dogs and a hypointense signal in a presumably unaffected littermate. Subcortical white matter appeared isointense to gray matter at 15 and 27 weeks of age on repeated MRI. Abnormal white matter signal with failure to display normal gray‐white matter contrast persisted into adulthood. Cerebellar arbor vitae was not visible at any time point. Clinical signs, MRI findings, and pathological examinations were indicative of a hypomyelinating leukodystrophy. All parents of the affected litters shared a common ancestor and relatedness of the puppies suggested an autosomal recessive mode of inheritance. Conclusion We describe a novel hypomyelinating leukodystrophy in German Shepherd dogs with a suspected inherited origin.
    Type of Medium: Online Resource
    ISSN: 0891-6640 , 1939-1676
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2177690-8
    SSG: 22
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