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  1. Article ; Online: Effecten van bisfosfonaten buiten het skelet.

    van Velsen, Evert F S / Zillikens, M Carola

    Nederlands tijdschrift voor geneeskunde

    2023  Volume 167

    Abstract: Bisphosphonates are effective and relative safe and cheap drugs, used for the treatment of different bone diseases, such as osteoporosis. Recently, several non-skeletal effects have been described, such as a reduced risk of myocardial infarction, cancer ... ...

    Title translation Non-skeletal effects of bisphosphonates: insufficient evidence as yet for new treatment indications.
    Abstract Bisphosphonates are effective and relative safe and cheap drugs, used for the treatment of different bone diseases, such as osteoporosis. Recently, several non-skeletal effects have been described, such as a reduced risk of myocardial infarction, cancer and death. Therefore, the question arises whether there are other, non-skeletal, indications for bisphosphonate treatment. However, there is currently insufficient evidence with respect to cardiovascular endpoints, death, cancer incidence, and infectious diseases for treatment with bisphosphonates. This is primarily caused by relative short follow-up duration, and several kinds of bias in the different studies. Therefore, prescribing bisphosphonates outside the current indications is not appropriate as long as there are no randomized trials showing a positive effect for certain diseases, specific risk groups, or the general population.
    MeSH term(s) Humans ; Diphosphonates/adverse effects ; Bone Density Conservation Agents/adverse effects ; Evidence Gaps ; Osteoporosis/drug therapy ; Bone Diseases
    Chemical Substances Diphosphonates ; Bone Density Conservation Agents
    Language Dutch
    Publishing date 2023-04-05
    Publishing country Netherlands
    Document type English Abstract ; Journal Article
    ZDB-ID 82073-8
    ISSN 1876-8784 ; 0028-2162
    ISSN (online) 1876-8784
    ISSN 0028-2162
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  2. Article ; Online: Early-Onset Osteoporosis.

    Mäkitie, Outi / Zillikens, M Carola

    Calcified tissue international

    2021  Volume 110, Issue 5, Page(s) 546–561

    Abstract: Osteoporosis is a skeletal disorder with enhanced bone fragility, usually affecting the elderly. It is very rare in children and young adults and the definition is not only based on a low BMD (a Z-score < - 2.0 in growing children and a Z-score ≤ - 2.0 ... ...

    Abstract Osteoporosis is a skeletal disorder with enhanced bone fragility, usually affecting the elderly. It is very rare in children and young adults and the definition is not only based on a low BMD (a Z-score < - 2.0 in growing children and a Z-score ≤ - 2.0 or a T-score ≤ - 2.5 in young adults) but also on the occurrence of fragility fractures and/or the existence of underlying chronic diseases or secondary factors such as use of glucocorticoids. In the absence of a known chronic disease, fragility fractures and low BMD should prompt extensive screening for secondary causes, which can be found in up to 90% of cases. When fragility fractures occur in childhood or young adulthood without an evident secondary cause, investigations should explore the possibility of an underlying monogenetic bone disease, where bone fragility is caused by a single variant in a gene that has a major role in the skeleton. Several monogenic forms relate to type I collagen, but other forms also exist. Loss-of-function variants in LRP5 and WNT1 may lead to early-onset osteoporosis. The X-chromosomal osteoporosis caused by PLS3 gene mutations affects especially males. Another recently discovered form relates to disturbed sphingolipid metabolism due to SGMS2 mutations, underscoring the complexity of molecular pathology in monogenic early-onset osteoporosis. Management of young patients consists of treatment of secondary factors, optimizing lifestyle factors including calcium and vitamin D and physical exercise. Treatment with bone-active medication should be discussed on a personalized basis, considering the severity of osteoporosis and underlying disease versus the absence of evidence on anti-fracture efficacy and potential harmful effects in pregnancy.
    MeSH term(s) Adult ; Aged ; Bone Density/genetics ; Bone Diseases ; Bone and Bones/pathology ; Child ; Collagen Type I/genetics ; Female ; Humans ; Male ; Mutation ; Osteoporosis/genetics ; Pregnancy ; Young Adult
    Chemical Substances Collagen Type I
    Language English
    Publishing date 2021-07-08
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 304266-2
    ISSN 1432-0827 ; 0944-0747 ; 0008-0594 ; 0171-967X
    ISSN (online) 1432-0827
    ISSN 0944-0747 ; 0008-0594 ; 0171-967X
    DOI 10.1007/s00223-021-00885-6
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  3. Article ; Online: Diuretic Use and Serum Phosphate: Rotterdam Study and UK Biobank.

    Bosman, Ariadne / Campos-Obando, Natalia / de Keyser, Catherine E / Stricker, Bruno H / Zillikens, M Carola

    Journal of the Endocrine Society

    2024  Volume 8, Issue 5, Page(s) bvae057

    Abstract: Purpose: Hypophosphatemia (serum phosphate < 0.80 mmol/L) leads to musculoskeletal complaints. The most common drugs linked to hypophosphatemia are thiazide and loop diuretics, but studies in the general population are lacking. Our aim was to study ... ...

    Abstract Purpose: Hypophosphatemia (serum phosphate < 0.80 mmol/L) leads to musculoskeletal complaints. The most common drugs linked to hypophosphatemia are thiazide and loop diuretics, but studies in the general population are lacking. Our aim was to study associations between diuretic use and serum phosphate in the Rotterdam Study (RS), a population-based cohort study, with replication in UK Biobank (UKBB).
    Methods: Associations between thiazide and loop diuretic use and serum phosphate and odds of hypophosphatemia were analyzed with cross-sectional multivariate linear and logistic regression in participants without chronic kidney disease in the RS and UKBB. Analyses were adjusted for age, sex, and body mass index (BMI) and pooled in 3 RS cohorts with further adjustment for cohort and serum potassium, which was not available in UKBB.
    Results: Thiazide diuretics were associated with lower serum phosphate in both sexes. This association lost significance in RS females after adjustment for BMI and in males after adjustment for serum potassium. Thiazide diuretics increased odds of hypophosphatemia in females in both cohorts and in males in UKBB only. Loop diuretics were associated with lower serum phosphate in females but not males. Adjustment for BMI attenuated these associations. Associations between loop diuretics and increased odds of hypophosphatemia in females lost significance after BMI adjustment.
    Conclusion: Thiazides, but not loop diuretics, and increased BMI and decreased serum potassium should be considered as contributing factors in subjects with hypophosphatemia. Further studies are needed to replicate the findings and elucidate the potential role of hypokalemia as a mediator of this effect.
    Language English
    Publishing date 2024-03-25
    Publishing country United States
    Document type Journal Article
    ISSN 2472-1972
    ISSN (online) 2472-1972
    DOI 10.1210/jendso/bvae057
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  4. Article ; Online: Serum alkaline phosphatase can be elevated in patients with hypophosphatasia due to liver disease.

    van Velsen, Evert F S / Zervou, Zografia / Zillikens, M Carola

    European journal of medical genetics

    2023  Volume 66, Issue 11, Page(s) 104866

    Abstract: Background: Hypophosphatasia (HPP) is a rare inherited disorder caused by pathogenic loss-of-function variants in the ALPL gene, encoding the tissue-nonspecific isoenzym of alkaline phosphatase (ALP; TNSALP). Low serum ALP is the biochemical hallmark of ...

    Abstract Background: Hypophosphatasia (HPP) is a rare inherited disorder caused by pathogenic loss-of-function variants in the ALPL gene, encoding the tissue-nonspecific isoenzym of alkaline phosphatase (ALP; TNSALP). Low serum ALP is the biochemical hallmark of HPP, but it is unknown whether ALP levels can increase due to concurring liver disease, which may lead to a missed diagnose of HPP. We present a patient with genetically confirmed HPP, who showed a transient increase of serum ALP levels due to alcohol-induced hepatitis.
    Clinical report: A 71-year old man was seen at our Bone Center for surveillance of HPP. Serum ALP was always low (23 U/L; reference value: <115 U/L). During follow-up, his serum ALP increased (156 U/L, further rising to 204 U/L), with concomitantly elevated serum gamma-glutamyl transferase and transaminases, and a rise in bone specific ALP (18.7 μg/L; reference value: 5.7-32.9 μg/L). This was attributed to alcohol-induced hepatitis. After refraining from alcohol intake, both serum ALP and bone specific ALP levels returned to initial low levels (30 U/L and 4.3 μg/L respectively).
    Conclusions: We demonstrated the history of a 71-year old patient with HPP, presenting during routine follow-up with an elevated serum ALP level up to 204 U/L due to alcohol-induced hepatitis. This case illustrates that the diagnosis of HPP can potentially be missed when ALP levels are normal or elevated due to a concomitant liver disease.
    MeSH term(s) Aged ; Humans ; Male ; Alkaline Phosphatase/blood ; Hypophosphatasia/blood ; Hypophosphatasia/complications ; Mutation ; Rare Diseases/blood ; Rare Diseases/complications ; Hepatitis, Alcoholic/blood ; Hepatitis, Alcoholic/complications
    Chemical Substances Alkaline Phosphatase (EC 3.1.3.1)
    Language English
    Publishing date 2023-10-13
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2023.104866
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    Zs.A 84/9: Show issues Location:
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  5. Article ; Online: Skin autofluorescence, reflecting accumulation of advanced glycation end products, and the risk of dementia in a population-based cohort.

    Mooldijk, Sanne S / Lu, Tianqi / Waqas, Komal / Chen, Jinluan / Vernooij, Meike W / Ikram, M Kamran / Zillikens, M Carola / Ikram, M Arfan

    Scientific reports

    2024  Volume 14, Issue 1, Page(s) 1256

    Abstract: Conditions such as hyperglycemia and oxidative stress lead to the formation of advanced glycation end products (AGEs), which are harmful compounds that have been implicated in dementia. Within the Rotterdam Study, we measured skin AGEs as skin ... ...

    Abstract Conditions such as hyperglycemia and oxidative stress lead to the formation of advanced glycation end products (AGEs), which are harmful compounds that have been implicated in dementia. Within the Rotterdam Study, we measured skin AGEs as skin autofluorescence, reflecting long-term accumulation of AGEs, and determined their association with the risk of dementia and with brain magnetic resonance imaging (MRI) measures. Skin autofluorescence was measured between 2013 and 2016 in 2922 participants without dementia. Of these, 1504 also underwent brain MRI, on which measures of brain atrophy and cerebral small vessel disease were assessed. All participants were followed for the incidence of dementia until 2020. Of 2922 participants (mean age 72.6 years, 57% women), 123 developed dementia. Higher skin autofluorescence (per standard deviation) was associated with an increased risk of dementia (hazard ratio 1.21 [95% confidence interval 1.01-1.46]) and Alzheimer's disease (1.19 [0.97-1.47]), independently of age and other studied potential confounders. Stronger effects were seen in apolipoprotein E (APOE) ε4 carriers (1.34 [0.98-1.82]) and in participants with diabetes (1.35 [0.94-1.94]). Participants with higher skin autofluorescence levels also had smaller total brain volumes and smaller hippocampus volumes on MRI, and they had more often lacunes. These results suggest that AGEs may be involved in dementia pathophysiology.
    MeSH term(s) Humans ; Female ; Aged ; Male ; Glycation End Products, Advanced ; Diabetes Mellitus ; Alzheimer Disease ; Brain/diagnostic imaging ; Magnetic Resonance Imaging ; Skin/diagnostic imaging
    Chemical Substances Glycation End Products, Advanced
    Language English
    Publishing date 2024-01-13
    Publishing country England
    Document type Journal Article
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-024-51703-6
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  6. Article ; Online: Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gapsOn behalf of the European calcified tissue society and ERN BOND.

    Funck-Brentano, Thomas / Zillikens, M Carola / Clunie, Gavin / Siggelkow, Heide / Appelman-Dijkstra, Natasha M / Cohen-Solal, Martine

    European journal of medical genetics

    2024  Volume 69, Page(s) 104936

    Abstract: Osteopetrosis refers to a group of related rare bone diseases characterized by a high bone mass due to impaired bone resorption by osteoclasts. Despite the high bone mass, skeletal strength is compromised and the risk of fracture is high, particularly in ...

    Abstract Osteopetrosis refers to a group of related rare bone diseases characterized by a high bone mass due to impaired bone resorption by osteoclasts. Despite the high bone mass, skeletal strength is compromised and the risk of fracture is high, particularly in the long bones. Osteopetrosis was classically categorized by inheritance pattern into autosomal recessive forms (ARO), which are severe and diagnosed within the first years of life, an intermediate form and an autosomal dominant (ADO) form; the latter with variable clinical severity and typically diagnosed during adolescence or in young adulthood. Subsequently, the AD form was shown to be a result of mutations in the gene CLCN7 encoding for the ClC-7 chloride channel). Traditionally, the diagnosis of osteopetrosis was made on radiograph appearance alone, but recent molecular and genetic advances have enabled a greater fidelity in classification of osteopetrosis subtypes. In the more severe ARO forms (e.g., malignant infantile osteopetrosis MIOP) typical clinical features have severe consequences and often result in death in early childhood. Major complications of ADO are atypical fractures with delay or failure of repair and challenge in orthopedic management. Bone marrow failure, dental abscess, deafness and visual loss are often underestimated and neglected in relation with lack of awareness and expertise. Accordingly, the care of adult patients with osteopetrosis requires a multidisciplinary approach ideally in specialized centers. Apart from hematopoietic stem cell transplantation in certain infantile forms, the treatment of patients with osteopetrosis, has not been standardized and remains supportive. Further clinical studies are needed to improve our knowledge of the natural history, optimum management and impact of osteopetrosis on the lives of patients living with the disorder.
    Language English
    Publishing date 2024-04-07
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2024.104936
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  7. Article ; Online: The AGE-RAGE axis associates with chronic pulmonary diseases and smoking in the Rotterdam study.

    Lu, Tianqi / Lahousse, Lies / Wijnant, Sara / Chen, Jinluan / Brusselle, Guy G / van Hoek, Mandy / Zillikens, M Carola

    Respiratory research

    2024  Volume 25, Issue 1, Page(s) 85

    Abstract: Background: Chronic obstructive pulmonary disease (COPD) and asthma associate with high morbidity and mortality. High levels of advanced glycation end products (AGEs) were found in tissue and plasma of COPD patients but their role in COPD and asthma is ... ...

    Abstract Background: Chronic obstructive pulmonary disease (COPD) and asthma associate with high morbidity and mortality. High levels of advanced glycation end products (AGEs) were found in tissue and plasma of COPD patients but their role in COPD and asthma is unclear.
    Methods: In the Rotterdam Study (n = 2577), AGEs (by skin autofluorescence (SAF)), FEV
    Results: SAF associated with COPD prevalence (OR = 1.299 [1.060, 1.591]) but not when adjusted for smoking (OR = 1.106 [0.89, 1.363]). SAF associated with FEV
    Conclusions: Associations between SAF, lung function and COPD prevalence were strongly influenced by smoking. SAF associated with COPD severity and its association with lung function was more prominent within COPD. These results fuel further research into interrelations and causality between SAF, smoking and COPD.
    Take-home message: Skin AGEs associated with prevalence and severity of COPD and lung function in the general population with a stronger effect in COPD, calling for further research into interrelations and causality between SAF, smoking and COPD.
    MeSH term(s) Humans ; Pulmonary Disease, Chronic Obstructive/diagnosis ; Pulmonary Disease, Chronic Obstructive/epidemiology ; Smoking/adverse effects ; Smoking/epidemiology ; Asthma ; Tobacco Smoking ; Skin ; Glycation End Products, Advanced
    Chemical Substances Glycation End Products, Advanced
    Language English
    Publishing date 2024-02-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 2041675-1
    ISSN 1465-993X ; 1465-993X
    ISSN (online) 1465-993X
    ISSN 1465-993X
    DOI 10.1186/s12931-024-02698-1
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  8. Article ; Online: A dens fracture case solved.

    Oei, Ling / Li, Jiawei / Karim, A Faiz / Verdijk, Robert M / Oei, Edwin H G / van Laar, Jan A M / Ten Cate, David / Haitsma, Iain / Monserez, Dominiek A / Zillikens, M Carola

    Rheumatology (Oxford, England)

    2024  

    Language English
    Publishing date 2024-02-08
    Publishing country England
    Document type Journal Article
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/keae026
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  9. Article ; Online: Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa.

    Zervou, Zografia / Plooij, Roel / van Velsen, Evert F S / Timmermans, Remco G M / Demirdas, Serwet / Zillikens, M Carola

    European journal of medical genetics

    2024  Volume 68, Page(s) 104915

    Abstract: Hypophosphatasia (HPP) is a rare disorder, resulting from loss-of-function variants of the ALPL gene encoding non-tissue specific alkaline phosphatase (TNSALP). Presentation varies largely, with increased severity usually occurring with earlier disease ... ...

    Abstract Hypophosphatasia (HPP) is a rare disorder, resulting from loss-of-function variants of the ALPL gene encoding non-tissue specific alkaline phosphatase (TNSALP). Presentation varies largely, with increased severity usually occurring with earlier disease onset. Here we describe the clinical improvement of a 57-year-old woman with childhood onset HPP, after initiating treatment with asfotase alfa (Strensiq®). This was started because of the rapid and progressive radiological deterioration of bone structure after placement of nails in both upper legs for spontaneous atypical femur fracture (AFF) - like fractures. Initiation of treatment, not only resulted in stabilization of bone structure on X-rays, but within a few weeks there was a dramatic reduction of burning pain sensations in the lower legs, attributed in retrospect to neuropathic pain, and also almost complete disappearance of headaches. Additionally, unhealed metatarsal fractures finally healed after almost 10 years. Drug efficacy was further evaluated through -quality of life questionnaires and multiple tests conducted by the physiotherapist, and showed clear improvements. Within 3 months after starting asfotase alfa, the patient was able to carry out her daily tasks indoors without relying on a walker and even started electric bike rides for 20 km/day. In conclusion, treatment with asfotase alfa, halted rapid radiological bone deterioration after bilateral intramedullary femoral pen placement and strongly increased quality of life, marked by rapid disappearance of neuropathic pain, reduction in headaches and musculoskeletal pains, and enhanced muscle strength and mobility. The quick and almost complete disappearance of neuropathic pain and headache suggests a relation with disturbed levels of metabolites in HPP.
    MeSH term(s) Adult ; Female ; Humans ; Child ; Middle Aged ; Alkaline Phosphatase/therapeutic use ; Hypophosphatasia/complications ; Hypophosphatasia/drug therapy ; Quality of Life ; Enzyme Replacement Therapy/methods ; Neuralgia/drug therapy ; Headache/drug therapy ; Immunoglobulin G ; Recombinant Fusion Proteins
    Chemical Substances asfotase alfa (Z633861EIM) ; Alkaline Phosphatase (EC 3.1.3.1) ; Immunoglobulin G ; Recombinant Fusion Proteins
    Language English
    Publishing date 2024-02-05
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2024.104915
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  10. Article ; Online: Osteosclerotic Metaphyseal Dysplasia Due to a Likely Pathogenic LRRK1 Variant as a Cause of Recurrent Long Bone Fractures.

    van Velsen, Evert F S / Demirdas, Serwet / Hanff, David / Zillikens, M Carola

    JBMR plus

    2023  Volume 7, Issue 8, Page(s) e10755

    Abstract: Osteosclerotic metaphyseal dysplasia (OSMD) is a very rare autosomal-recessive disease caused by mutations in the leucine-rich repeat kinase 1 (LRRK1) gene. It is a sclerosing skeletal dysplasia characterized by osteosclerosis of the long bones, ... ...

    Abstract Osteosclerotic metaphyseal dysplasia (OSMD) is a very rare autosomal-recessive disease caused by mutations in the leucine-rich repeat kinase 1 (LRRK1) gene. It is a sclerosing skeletal dysplasia characterized by osteosclerosis of the long bones, predominantly at the metaphyses and vertebrae. Phenotypic features can be short stature, pathological fractures, delayed development, and hypotonia, but they are not uniformly present, and relatively few cases are known from the literature. A 40-year-old man was seen at our bone center because of nonspontaneous multiple peripheral low-energy trauma fractures since puberty. He had no other complaints and his family history was negative. Except for a relatively short stature (167 cm; -1.5 SD), there were no abnormalities on examination, including laboratory tests. Initially, a suspicion was raised of osteogenesis imperfecta, but bone mineral density was high and X-rays of the whole skeleton showed osteosclerosis of the metaphyses of long bones and vertebrae. Whole-exome sequencing showed a homozygous, likely pathogenic, variant (American College of Medical Genetics and Genomics criteria class 4) in the LRRK1 gene, fitting the diagnosis of OSMD. In conclusion, we described a 40-year-old patient with osteosclerotic metaphyseal dysplasia caused by a homozygous variant in the LRRK1 gene, resulting in multiple fractures of the long bones without other features of the disease, adding to the phenotypic variation of OSMD. © 2023 The Authors.
    Language English
    Publishing date 2023-06-28
    Publishing country England
    Document type Case Reports
    ISSN 2473-4039
    ISSN (online) 2473-4039
    DOI 10.1002/jbm4.10755
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