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  1. Fulltext Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency
    Lautrup CK, Teik KW, Unzaki A, Mizumoto S, Syx D, Sin HH, et al.
    Mol Genet Genomic Med, 2020 05;8(5):e1197.
    PMID: 32130795 DOI: 10.1002/mgg3.1197
    BACKGROUND: Musculocontractural Ehlers-Danlos Syndrome (mcEDS) is a rare connective tissue disorder caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE), both of which result in defective dermatan sulfate biosynthesis. Forty-one patients with mcEDS-CHST14 and three patients with mcEDS-DSE have been described in the literature.

    METHODS: Clinical, molecular, and glycobiological findings in three additional patients with mcEDS-DSE were investigated.

    RESULTS: Three patients from two families shared craniofacial characteristics (hypertelorism, blue sclera, midfacial hypoplasia), skeletal features (pectus and spinal deformities, characteristic finger shapes, progressive talipes deformities), skin features (fine or acrogeria-like palmar creases), and ocular refractive errors. Homozygous pathogenic variants in DSE were found: c.960T>A/p.Tyr320* in patient 1 and c.996dupT/p.Val333Cysfs*4 in patients 2 and 3. No dermatan sulfate was detected in the urine sample from patient 1, suggesting a complete depletion of DS.

    CONCLUSION: McEDS-DSE is a congenital multisystem disorder with progressive symptoms involving craniofacial, skeletal, cutaneous, and cardiovascular systems, similar to the symptoms of mcEDS-CHST14. However, the burden of symptoms seems lower in patients with mcEDS-DSE.

    Matched MeSH terms: Talipes
  2. Fulltext Factors Related to Early Recurrence of Idiopathic Clubfoot Post the Ponseti Method
    Limpaphayom N, Sailohit P
    Malays Orthop J, 2019 Nov;13(3):28-33.
    PMID: 31890107 DOI: 10.5704/MOJ.1911.005
    Introduction: Idiopathic clubfoot or congenital talipes equinovarus (CTEV) is managed by the Ponseti method worldwide; however, the recurrence of the deformity is a challenging problem. The purpose was to review the factors associated with early recurrence of CTEV post the Ponseti method. Materials and Methods: During 2011-2016, 34 infants with 52 CTEV, who underwent the Ponseti method and a minimum follow-up period of six months, were reviewed. Twenty-two infants (65%) were male, and 18 infants (53%) had bilateral CTEV. Recurrence of CTEV was defined as a reappearance of at least one of the four components of the deformity. The association between recurrence and factors, including age, gender, bilaterality, family geography, type of principal caregiver, severity at presentation, centre where the Ponseti method was initiated, compliance to foot abduction brace (FAB), practice of stretching exercise, type of FAB, and complications of casting, were evaluated using univariate logistic regression analysis. Results: The median age at initiation of the treatment was 3.4 (IQR; 2.1-12.6) weeks. A median of six (range; 3-12) casts were required. Tenotomy was performed in 32/34 (94%) of cases. Recurrence occurred in 14/52 feet (27%) at an average follow-up period of 2.3±1.1 years. Non-compliance to FAB protocol began at an average age of 11.2±6.5 months, and significantly increased the risk of recurrence during the weaning phase [OR (95%CI)=8.4 (1.2-92.4), p=0.03]. Other factors were not associated with the recurrence. Conclusion: Non-compliance to FAB occurred early during the treatment and related to a risk of recurrence of CTEV. Physicians should encourage the parents and/or guardians to follow the protocol to decrease the risk of recurrence.
    Matched MeSH terms: Talipes
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