Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly

Klippel-Feil syndrome (KFS) is a segmentation malformation of the cervical spine; clinically, it manifests as a short neck with reduced mobility and a low posterior hairline. Several genes have been proposed as candidates for KFS when it is present with other associated anomalies, but the genetics of isolated KFS have been difficult to study because of the syndrome’s mostly sporadic occurrence. We describe a multiplex consanguineous family in which isolated KFS maps to a single 17q21.31 locus that harbors a homozygous frameshift deletion in MEOX1; this deletion results in complete instability of the transcript. Direct sequencing of this gene in two siblings from another consanguineous family affected by isolated KFS uncovered another homozygous truncating (nonsense) MEOX1 mutation that also leads to complete degradation of the transcript. This gene encodes a transcription factor with a well-established and nonredundant role in somite development, and homozygous null alleles of Meox1 in mice have a cervical skeletal defect that is remarkably similar to the one we observe in human individuals with MEOX1 mutations. Our data strongly suggest that KFS is the human phenotypic equivalent of the sclerotome polarity defect that results from Meox1 deficiency in mice

Brace‐related Stress and Quality of Life Parameters between Chêneau and Boston Braces: A Cross‐sectional Comparative Study on Adolescent Idiopathic Scoliosis in Saudi Arabia

Objective Adolescent idiopathic scoliosis (AIS) is the most prevalent spinal deformity affecting healthy children. Although AIS typically lacks symptomatic manifestations, its resultant deformities can affect patients' quality of life (QoL). Evaluating QoL and stress levels is crucial in determining the optimal brace type for AIS patients; however, research comparing the effectiveness of different brace types in this regard is lacking. Therefore, this study aimed to evaluate the impact of Boston versus Chêneau braces on QoL and stress levels in AIS patients. Methods This cross‐sectional study was conducted at a medical institution in Riyadh, Saudi Arabia, involving 52 eligible patients selected through stratified random sampling based on type of brace as the main stratum. The inclusion criteria were idiopathic scoliosis, age ≥ 10 years, bracing for at least 3 months, and no history of cancer. QoL was evaluated according to the revised Scoliosis Research Society 22‐item questionnaire (SRS‐22r) and stress levels according to the eight‐item Bad Sobernheim stress questionnaire (BSSQ‐Brace). Independent‐sample t‐tests were used to compare brace‐related QoL and stress level according to participants' sex and brace type. Results Overall, 32 participants were treated with Boston braces (seven men and 25 women), with a median (IQR) age of 11.00 years (10.00–13.00), and 20 participants were treated with Chêneau braces (three men, 17 women), with a median (IQR) age of 12.50 years (10.00–14.25). The total SRS‐22 score was not significantly different between the brace groups (p = 0.158). However, patients in the Boston brace group reported significantly higher satisfaction levels (median = 4.00, IQR = 3.50–4.50) than did those in the Chêneau brace group (median = 3.25, IQR = 2.38–4.13, p = 0.013, moderate effect size = 0.345, 95% CI = 0.060 to 0.590). Furthermore, the BSSQ‐brace total score was significantly higher in the Boston brace group (median = 9.00, IQR = 8.00–12.00) than in the Chêneau brace group (median = 7.50, IQR = 4.75–10.00, p = 0.007, moderate effect size = 0.376, 95% CI = 0.130 to 0.590), indicating higher stress levels in the Chêneau brace group. Conclusion The QoL in AIS patients undergoing brace treatment was comparable across groups. Nonetheless, patients who used Chêneau braces experienced higher stress levels and lower treatment satisfaction rates than did those who used Boston braces. These findings can inform clinical decisions regarding prescription of bracing types and highlight the need for further in‐depth research

Determining the correlation between Cobb angle severity and bone mineral density in women with adolescent idiopathic scoliosis

الملخص: أهداف البحث: دراسة العلاقة بين مقدار معامل زاوية ''كوب'' ومختلف كثافات العظم لدى المرضى الإناث المصابات بجنف العمود الفقري لدى اليافعات في السعودية، وقياس مدى كثافة العظام في مختلف مناطق أجسامهن. طرق البحث: استخدم البحث نموذج دراسة مقطعية كمية بعدد مناسب من المشاركات. شملت العينة المدخلة ٥٤ مريضة بجنف العمود الفقري لدى اليافعات تراوحت أعمارهن بين ١٠-٢٠ عاما. تم تسجيل معامل زاوية كوب ودرجات ''زد'' في مقياس امتصاص الأشعة السينية ثنائي البواعث لكل من عظمة الفخذ وعظمة الفقرة القطنية، وتم جمعها بين الأعوام ٢٠٠٨-٢٠١٨. النتائج: من بين ٥٤ مريضة، ٤١ منهن كان معامل زاوية كوب لديهن يتراوح بين ٤٠°-٧٠°، و١٣ بمعامل زاوية كوب ٧٠° مقارنة بالمرضى اللاتي معامل زاوية كوب 70°. The mean lumbar bone, right femur, and left femur BMDs were markedly higher in those with Cobb angles ≤70° compared with BMDs in those with Cobb angles >70°. Of the group with Cobb angles ≤70°, six (14.6%) and nine (22.0%) exhibited low BMD according to their lumbar and femoral Z-scores, respectively. Of the group with Cobb angles >70°, eight (61.5%) and nine (69.2%) exhibited low BMD according to their lumbar and femoral Z-scores, respectively. Conclusions: Female AIS patients with greater higher Cobb angles exhibited a significantly higher frequency of low BMDs