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2.
Neuromuscul Disord ; 30(9): 709-718, 2020 09.
Article in English | MEDLINE | ID: mdl-32893083

ABSTRACT

Heterozygous mutations in the stromal interaction molecule-1-gene (STIM1) cause a clinical phenotype varying from tubular aggregate myopathy with single or multiple signs of Stormorken syndrome to the full Stormorken phenotype. We identified a novel heterozygous mutation c.325C > T (p.H109Y) in the EF-hand domain of STIM1 in six patients of a large Belgian family, and performed a detailed clinical (N = 6), histopathological (N = 2) and whole-body muscle MRI (N = 3) study. The clinical phenotype was characterized by a slowly progressive, predominant proximal muscle weakness in all patients (100%), and additional exercise-induced myalgia in three (60%). Patients experienced symptom onset between 10 and 20 years, remained ambulatory into late adulthood, showed elevated serum creatine kinase levels and tubular aggregates in type 1 and type 2 fibers on muscle biopsy. Interestingly, jaw contractures and hyperlaxity, as well as non-muscular multisystemic features such as menorrhagia, easy bruising and ichthyosis occurred in one patient, and miosis in another. Whole-body muscle MRI revealed predominant involvement of superficial neck extensors, subscapularis, obliquus abdominis externus, lumbar extensors, rectus femoris, biceps femoris longus, medial head of gastrocnemius and flexor hallucis longus. Our findings in patients with myopathy with tubular aggregates and a STIM1 mutation further support the concept of a continuous spectrum with Stormorken syndrome.


Subject(s)
Blood Platelet Disorders/drug therapy , Dyslexia/drug therapy , Ichthyosis/drug therapy , Migraine Disorders/drug therapy , Miosis/drug therapy , Myopathies, Structural, Congenital/genetics , Myopathies, Structural, Congenital/metabolism , Spleen/abnormalities , Adult , Erythrocytes, Abnormal , Female , Heterozygote , Humans , Magnetic Resonance Imaging , Male , Muscle Fatigue , Mutation , Spleen/growth & development , Stromal Interaction Molecule 1/genetics
4.
Acta Neurol Belg ; 119(1): 29-36, 2019 Mar.
Article in English | MEDLINE | ID: mdl-30747336

ABSTRACT

Anti-GQ1b antibodies can be detected in the serum of patients with Miller Fisher syndrome (MFS) and its incomplete forms such as acute ophthalmoparesis (AO), acute ptosis, acute mydriasis, acute oropharyngeal palsy and acute ataxic neuropathy (AAN), as well as in pharyngeal-cervical-brachial weakness, Bickerstaff brainstem encephalitis (BBE) and in overlap syndromes with Guillain-Barré syndrome (MFS-GBS, BBE-GBS). We searched the laboratory medicine database at University Hospitals Leuven between 2002 and 2017 for serum samples with anti-GQ1b IgG antibodies. We identified eight patients with anti-GQ1b antibodies: 4 MFS, 2 AO, 1 MFS-GBS and 1 AAN. Mean age was 57 years and five patients were males. Preceding illness was present in all patients. At nadir, we observed most frequently gait disturbance, external ophthalmoplegia and absent/decreased reflexes. Albumino-cytological dissociation was present in four patients. Mean time between onset and nadir was 4 days, between onset and recovery 2.5 months. Five patients recovered completely and three had minor residual symptoms. Interestingly, one patient with AO experienced a second identical episode, approximately 1 year after the first one. Our data confirm the broad clinical spectrum associated with the presence of anti-GQ1b IgG antibodies. Incomplete MFS subtypes such as AO are a challenge for diagnosis, because of the limited (though invalidating) clinical presentation and the lack of confirming ancillary tests. Subacute onset of ophthalmoplegia and/or ataxia should urge the clinician to include the anti-GQ1b antibody syndrome in the differential diagnosis.


Subject(s)
Autoantibodies/immunology , Autoimmune Diseases/diagnosis , Autoimmune Diseases/immunology , Gangliosides/immunology , Adolescent , Adult , Aged , Aged, 80 and over , Autoantigens/immunology , Female , Guillain-Barre Syndrome/diagnosis , Guillain-Barre Syndrome/immunology , Humans , Male , Middle Aged , Miller Fisher Syndrome/diagnosis , Miller Fisher Syndrome/immunology , Ophthalmoplegia/diagnosis , Ophthalmoplegia/immunology , Paraplegia/diagnosis , Paraplegia/immunology , Syndrome , Young Adult
5.
J Craniomaxillofac Surg ; 46(10): 1800-1806, 2018 Oct.
Article in English | MEDLINE | ID: mdl-30082169

ABSTRACT

This study evaluated the impact of class III correction by elastic traction on four miniplates and the failure rate of bone-anchored miniplates in nonsyndromic patients. A total of 218 patients (112 males and 106 females; average 11.4 years), treated by 38 orthodontists, received four miniplates (total 872 miniplates) from 2008 to 2016 at three maxillofacial centers in two countries. Factors affecting the success and failure of the miniplates were retrospectively examined and skeletal changes on cephalometric radiographs examined for 52 patients. Elastic traction was performed for 22.9 months, on average. The miniplate survival rate was 93.6%; 25.7% of the patients suffered failure of one of the miniplates. Postoperative antibiotics and placement of the neck of the miniplate in the attached gingiva significantly improved the success rate. Miniplate failure was six times higher in the maxilla and occurred more in younger patients. Self-drilling screws were significantly better than self-tapping screws for fixing the miniplate. Small cephalometric changes were seen: SNA (+1.9°), SNB (+0.4°), ANB (+1.4°), Wits analysis (+1.3 mm). In conclusion, bone-anchored maxillary protraction on four miniplates is an effective method for correcting a class III relationship, but has less skeletal effect than previously reported in the literature.


Subject(s)
Malocclusion, Angle Class III/surgery , Orthodontic Anchorage Procedures , Palatal Expansion Technique , Adolescent , Bone Screws , Child , Extraoral Traction Appliances , Female , Humans , Male , Malocclusion, Angle Class III/diagnostic imaging , Retrospective Studies , Treatment Outcome
6.
Sci Rep ; 6: 38289, 2016 12 05.
Article in English | MEDLINE | ID: mdl-27917908

ABSTRACT

Since the 1950s, bumblebee (Bombus) species are showing a clear decline worldwide. Although many plausible drivers have been hypothesized, the cause(s) of this phenomenon remain debated. Here, genetic diversity in recent versus historical populations of bumblebee species was investigated by selecting four currently restricted and four currently widespread species. Specimens from five locations in Belgium were genotyped at 16 microsatellite loci, comparing historical specimens (1913-1915) with recent ones (2013-2015). Surprisingly, our results showed temporal stability of genetic diversity in the restricted species. Furthermore, both historical and recent populations of restricted species showed a significantly lower genetic diversity than found in populations of co-occurring widespread species. The difference in genetic diversity between species was thus already present before the alleged recent drivers of bumblebee decline could have acted (from the 1950's). These results suggest that the alleged drivers are not directly linked with the genetic variation of currently declining bumblebee populations. A future sampling in the entire distribution range of these species will infer if the observed link between low genetic diversity and population distribution on the Belgium scale correlates with species decline on a global scale.


Subject(s)
Bees/genetics , Genetic Variation , Genetics, Population , Genome, Insect , Animal Distribution , Animals , Bees/anatomy & histology , Bees/classification , Belgium , Female , Genotype , Male , Microsatellite Repeats , Phylogeny , Population Density
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