Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report.

Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristic facial dysmorphic signs. Until today, the distinct genetic causes for the different symptoms remain unclear. We here report a 1.2Mb de novo microdeletion 1q44 identified by performing a SNP array analysis. The female patient presented with microcephaly, seizure, hypogenesis of corpus callosum, postaxial hexadactyly, an atrial septal defect, a ventricular septal defect, hypertelorism, a long and smooth philtrum, thin vermilion borders, and micrognathia, all common features of microdeletion 1q44. An additionally performed chromosome analysis excluded any chromosomal rearrangements. The deleted region included the genes ZBTB18 as well as HNRNPU amongst others. Both are possibly candidate genes for the dysgenesis of the corpus callosum. AKT3, another candidate gene, was not affected by the deletion in this patient. Thus, the genetic findings in this case report spotlight ZBTB18 and HNRNPU in the genesis of the typical microdeletion 1q44 symptoms, especially concerning the dysgenesis of the corpus callosum, and therefore could help to unveil more of the genetic background of this syndrome.

Structural and biomechanical changes in shoulders of junior javelin throwers: a comprehensive evaluation as a proof of concept for a preventive exercise protocol.

PURPOSE: The purpose of this study was to develop a preventive exercise protocol based on structural and functional changes present in shoulder joints of young throwing athletes. As a proof of concept, these changes were previously evaluated in a cross-section of high-performance junior javelin throwers. METHODS: Thirteen members of the German and Bavarian junior javelin squad (mean age 17.5 ± 0.8 years) completed a systematic clinical examination, shoulder range of motion (ROM) measurement, and were scored with standardized clinical tools. 3.0 tesla magnetic resonance imaging (MRI) was conducted on both shoulders. Bilateral three-dimensional analysis of the scapulothoracic motion during multiplanar humeral elevation and isokinetic strength testing of the shoulder internal and external rotators was accomplished. Based on the findings, a preventive exercise protocol was confirmed. RESULTS: Dominant internal ROM was significantly decreased (dominant 48° ± 20° vs. non-dominant 57° ± 19°; P = 0.006) and dominant external ROM increased (dominant 117° ± 15° vs. non-dominant 107° ± 10°; P = 0.008). MRI revealed posterosuperior intraosseous cysts of the humeral head with a size larger than >3 mm in 69 % of the dominant shoulders and only in 15 % in the non-dominant shoulders. Motion analysis of the static scapular resting position was significantly different between dominant and non-dominant sides regarding anterior tilt (dominant > non-dominant, mean difference 4.2°, P = 0.010) and retraction (dominant > non-dominant, mean difference 2.4°, P = 0.038). Dominant scapular anterior tilt during flexion and abduction was significantly increased (-4.3°, P = 0.006; -3.4°, P = 0.046). Dominant retraction was significantly increased during abduction (-2.3°, P = 0.040). Isokinetic outcome parameters presented nonsignificant bilateral differences. CONCLUSIONS: Elite junior javelin throwers already present structural (humeral intraosseous cysts) and biomechanical changes (ROM deficits and asymmetric scapulothoracic motion patterns), even if they have no history of major shoulder pain or injury. A novel exercise protocol was developed in order to address the complex of alterations in a comprehensive way. Preventive diagnostics in combination with a systematic all-year preventive exercise intervention might be one option to detect and control risk factors of a symptomatic throwing shoulder at an early stage. LEVEL OF EVIDENCE: IV.

Premature cystic lesions in shoulders of elite junior javelin and volleyball athletes: a comparative evaluation using 3.0 Tesla MRI.

BACKGROUND: The purpose of this study was to evaluate clinical and magnetic resonance imaging (MRI) findings in the shoulders of high performance competitive junior javelin athletes and volleyball players. The hypothesis was that structural lesions already exist in young and asymptomatic overhead athletes. METHODS: Thirty-one healthy high performance junior elite athletes were included. Group 1 consisted of 15 male javelin throwers (mean age, 17.7 ± 0.8 years) and group 2 of 16 male volleyball players (16.9 ± 1.0 years). Questionnaire-based interviews, comprehensive clinical examination, and shoulder scoring systems (visual analog scale [VAS] and Constant-Murley Score) were completed. Bilateral shoulder imaging was performed using a 3.0 Tesla MRI. RESULTS: The Constant-Murley Score of group 1 was 95.5 ± 3.6 and 94.7 ± 4.6 points for group 2. Group 1 demonstrated a mean VAS of 0.9 ± 1.6 and group 2 a mean of 0.6 ± 0.8 points. Postero-superior intraosseous cysts of the humeral head were detected in 73.3% of all javelin throwers in the dominant shoulder, but only in 13.3% in the nondominant shoulder (P = .008). In the volleyball group, such cyst formation was rarely seen in 12.5% in the dominant versus 6.3% in the nondominant shoulder (P = .66). CONCLUSION: A high percentage of junior elite athletes already demonstrate osseus signs of overloading especially in the group of javelin athletes, although none had a history of prior shoulder pathology. Therefore, junior overhead athletes might be at risk for the early development of structural lesions at the insertion of the posterior rotator cuff similar to lesions already known for adult athletes, even though they do not present clinical signs of overuse at that age.