6 results on '"Lincke CR"'
Search Results
2. 5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.
- Author
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van der Lugt NM, Weerts MJA, Veenma DCM, Lincke CR, Gischler SJ, Alders M, and van Ierland Y
- Subjects
- Male, Female, Humans, Mothers, Phenotype, Sotos Syndrome genetics, Abnormalities, Multiple genetics, Dwarfism, Microcephaly diagnosis, Microcephaly genetics
- Abstract
The key features of patients with a microduplication 5q35.2q35.3 (including the NSD1 gene) are short stature, microcephaly, mild developmental delay, behavioral problems, digital anomalies and congenital anomalies of internal organs. This core phenotype can be viewed as the reversed phenotype of Sotos syndrome, which is caused by a microdeletion in the same chromosomal region or a pathogenic variant in the NSD1 gene, and includes tall stature and macrocephaly, developmental delay, and epilepsy. Here, we report on a patient and his mother, both with a 5q35.2q35.3 duplication, adding a fifth family to the recently published overview of 39 patients of Quintero-Rivera et al. Our patient had several congenital anomalies, intrauterine growth restriction with a persisting short stature, while his mother was only mildly affected with decreased growth parameters. In addition, he had hemophagogocytic lymphohistiocytosis (HLH) triggered by Haemophilus influenzae and was recently diagnosed with Ewing sarcoma. Our cases carry the smallest duplication published (ca 332 kb, arr[hg19] 5q35.2q35.3(176493106-176824785)x3) further narrowing the distal side of the critical region of the 5q35.2q35.3 duplication. Besides broadening the clinical phenotypic spectrum, our report indicates that the 5q35.2q35.3 microduplication also shows a large intra-familial variability and expression., (© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
- Published
- 2023
- Full Text
- View/download PDF
3. Treatment Experiences with Intravenous Immunoglobulins, Ixekizumab, Dupilumab, and Anakinra in Netherton Syndrome: A Case Series.
- Author
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Ragamin A, Nouwen AEM, Dalm VASH, van Mierlo MMF, Lincke CR, and Pasmans SGMA
- Subjects
- Humans, Interleukin 1 Receptor Antagonist Protein therapeutic use, Retrospective Studies, Treatment Outcome, Immunoglobulins, Intravenous therapeutic use, Netherton Syndrome drug therapy
- Abstract
Background: Netherton syndrome (NS) is a rare potential life-threatening disorder that causes severe defects to the skin barrier. No effective treatment options are available for patients with NS and current therapy is mostly supportive. The effects of intravenous immunoglobulins (IVIGs), ixekizumab, and dupilumab have scarcely been reported. Additionally, the role of anakinra in patients with NS has never been investigated., Objectives: The objective was to report our experiences of treatment with IVIG, ixekizumab, dupi-lumab, and anakinra in patients with NS., Methods: A retrospective case series, including 5 patients with NS, was performed in a tertiary referral hospital between 2016 and 2021. Patients were treated with IVIG, ixekizumab, dupilumab, and/or anakinra. Long-term experiences with treatment regimens and adverse events requiring medical attention were reported., Results: IVIG, ixekizumab, dupilumab, and anakinra were well tolerated with no severe adverse events. The 2 patients that received IVIG showed clinical response for 6 months and 2.5 years. Ixekizumab was effective in 1 of our patients for 3.5 years, while in another patient ixekizumab lost its effect after 1.5 years. Dupilumab treatment did not result in persistent improvement of NS-related skin symptoms in 1 patient. Anakinra showed physician-assessed clinical response during the first months of treatment in 4 patients with NS. During anakinra treatment, no changes in blood levels of IL-1β, IL-6, and TNF-α levels were measured at routine blood examinations., Conclusions: This case series suggests that the use of IVIG, ixekizumab, dupilumab, and anakinra in NS is safe and moderately effective on the short term. On the long term, a decline in effect was observed. Our experiences may help clinicians and researchers to provide adequate care and develop treatment for these severely affected patients. More international research, especially on the long term, is needed to determine if and which patients benefit most from the emerging therapies for NS., (© 2022 The Author(s). Published by S. Karger AG, Basel.)
- Published
- 2023
- Full Text
- View/download PDF
4. [Genome-wide diagnostics; after the results the real work begins].
- Author
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Bannink N, Joosten M, Brooks AS, and Lincke CR
- Subjects
- Abnormalities, Multiple genetics, Child, Female, Humans, Abnormalities, Multiple diagnosis, Genetic Testing methods, Ribs abnormalities, Spine abnormalities, Exome Sequencing methods
- Abstract
Introduction of new genetic test technologies in the last decade have accelerated genetic diagnosis in many medical specialties and have increased diagnostic yield considerably. SNP-arrays have been established as first tier diagnostic tools, more and more being replaced by next generation sequencing strategies, like targeted genomic panels and whole exome sequencing. We present the diagnostic work-up of a clinical case, a girl with congenital vertebral and rib anomalies. This case illustrates the complexity of genetic tests and the need for knowledge and experience to interpret the results. Intensive collaboration between pediatrician, clinical geneticist and laboratory specialist is mandatory, as is long-term commitment to involve parents in the diagnostic journey .
- Published
- 2021
5. Care for children with severe chronic skin diseases.
- Author
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De Maeseneer H, Van Gysel D, De Schepper S, Lincke CR, Sibbles BJ, Versteegh JJWM, Oei W, Pangalila RF, and Pasmans SGMA
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Chronic Disease psychology, Dermatology standards, Female, Humans, Infant, Male, Parents psychology, Qualitative Research, Quality of Health Care standards, Surveys and Questionnaires, Quality of Life, Skin Diseases psychology
- Abstract
In this study, the care for children with a severe chronic skin disease in our national expert center of pediatric dermatology was evaluated. Patients and their parents were questioned by using existing questionnaires: 50 pediatric patients completed the modified "my positive health" questionnaire of Huber and 51 parents completed Pelentsov parental needs scale. Nineteen involved professionals answered a questionnaire with open boxes. Parents of children with a variety of chronic skin diseases and young adult patients were interviewed to find out what an optimal approach would look like according to them. Children with a severe chronic and/or congenital skin disorder score high on the "my positive health" questionnaire, indicating they are able to adapt and self-manage. Their highest median score was measured for the dimension "quality of life." Their parents expect improvement of "working with health care professionals," more specifically they want them to adopt a more holistic approach throughout the patient's life. Structured interviews showed they expect that a multidisciplinary team of care providers determine together with the patient and its family-in advance-which care is needed, at what time and by whom. The interviewed professionals indicated adoption of a holistic multidisciplinary approach as the single largest improvement to achieve better care.Conclusion: Although these children with a severe chronic and/or congenital skin disease were able to adapt and self-manage, they need a more personalized integrative multidisciplinary and systematic transmural approach covering all aspects of life during their lifetime. What is Known: • Severe skin disorders affect the child and its family in several ways. In our expert center, we try to optimize the care for these children through a multidisciplinary approach. What is New: • To our knowledge, no English publication describes the requirements for good care for pediatric patients with severe chronic skin disorders and how to optimize this care. We evaluated the health status of children with severe chronic skin disorders and the strengths and weaknesses of past and current care by questioning these children, their parents, adult patients, and involved professionals.
- Published
- 2019
- Full Text
- View/download PDF
6. [Fragile X syndrome: new therapeutic strategies].
- Author
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Zeidler S, Dierckx B, Lubbers K, van Eeghen AM, Lincke CR, Kievit JA, Willemsen R, and Rietman A
- Subjects
- Animals, Autism Spectrum Disorder, Child, Clinical Trials as Topic, Humans, Intellectual Disability, Disease Models, Animal, Fragile X Syndrome genetics, Fragile X Syndrome therapy, Molecular Targeted Therapy
- Abstract
Background: Fragile X syndrome (fxs) is the most common hereditary cause of intellectual disability and autism spectrum disorders. Targeted treatment is currently lacking. In the past decades an enormous amount of knowledge has been obtained concerning the involved molecular pathways, introducing potential targets for disease modifying therapy.
AIM: To present an overview of the development of targeted treatment for fxs.
METHOD: Several important publications were collected and indexed.
RESULTS: While preclinical animal model studies with targeted interventions are promising, the translation to the clinic has been disappointing.
CONCLUSION: Targeted treatment for fxs is necessary and could be applied in other causes of autism spectrum disorders and intellectual disability. Factors relating to translation, study design and outcome measures are possibly contributing to the disappointing results. The clustering of patient care in a center of expertise is required to clinically implement future therapeutic strategies and to facilitate research. In addition, this improves patient care, one example being the recent medical guideline for children with fxs.- Published
- 2018
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