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Abstract Marfan syndrome and related disorders are a group of heritable connective tissue disorders and share many clinical features that involve cardiovascular, skeletal, craniofacial, ocular, and cutaneous abnormalities. The majority of affected individuals have aortopathies associated with early mortality and morbidity. Implementation of targeted gene panel next-generation sequencing in these individuals is a powerful tool to obtain a genetic diagnosis. Here, we report on clinical and genetic spectrum of 53 families from India with a total of 83 patients who had a clinical diagnosis suggestive of Marfan syndrome or related disorders. We obtained a molecular diagnosis in 45/53 (85%) index patients, in which 36/53 (68%) had rare variants in FBN1 (Marfan syndrome; 63 patients in total), seven (13.3%) in TGFBR1/TGFBR2 (Loeys–Dietz syndrome; nine patients in total) and two patients (3.7%) in SKI (Shprintzen–Goldberg syndrome). 21 of 41 rare variants (51.2%) were novel. We did not detect a disease-associated variant in 8 (15%) index patients, and none of them met the Ghent Marfan diagnostic criteria. We found the homozygous FBN1 variant p.(Arg954His) in a boy with typical features of Marfan syndrome. Our study is the first reporting on the spectrum of variants in FBN1, TGFBR1, TGFBR2, and SKI in Indian individuals.

Middle Interhemispheric variant (MIH) is a rare subtype of holoprosencephaly (HPE), also known as syntelencephaly. We present a case of MIH, which was diagnosed as an interhemispheric cyst on antenatal sonography at 19 weeks, but later diagnosed as MIH variant of holoprosencephaly after a postabortal MRI and perinatal autopsy.

Introduction: The minimal clinically important difference (MCID) is a valuable tool for patient-based outcome analysis, for which limited data is available in the literature, especially after arthroscopic rotator cuff repair (ARCR). Although several studies have reported MCID after ARCR, few have studied the impact of various clinical factors such as Diabetes, pseudoparalysis, type of cuff repair, and retear over MCID. This study attempts to determine the MCID in shoulder functional scores after ARCR and the impact of various factors on MCID., Methods: 144 patients undergoing ARCR were prospectively evaluated at six and 12 months by ASES and UCLA scores. MCID for American Shoulder and Elbow Surgeons (ASES) and the University of California and Los Angeles (UCLA) scores were calculated using an anchor-based and distribution-based approach. MCID was also calculated for diabetic and non-diabetic patients, smokers vs. non-smokers, presence or absence of pseudoparalysis, type of cuff repair (single row vs. suture bridge), and presence of retears. Uni- and multivariate analysis was performed to identify factors affecting the MCID of both scores., Results: Mean MCID for ASES score was 13.3 and 16.6 using an anchor-based and distribution-based approach, respectively. For the UCLA score, the mean MCID was 10.0 and 12.6 by anchor-based and 12.6 by distribution-based approach, respectively. Patients with higher pre-operative ASES scores demonstrated lower MCID values. No significant difference was observed in MCID scores of diabetic vs. non-diabetic patients, smoker vs. non-smoker, patients with or without pseudoparalysis, and type of cuff repair. The age, gender, and presence of retear did not affect MCID values., Conclusion: This study establishes the MCID values of ASES and UCLA scores for rotator cuff repair by anchor and distribution methods. No patient or surgical factors appear to affect the MCID except pre-operative ASES scores., Study Design: Prospective cohort, Level II., (© 2024. The Author(s).)

Introduction: Mucoid degeneration (MD) of the anterior cruciate ligament (ACL) is an unusual cause of knee pain and restricted movement, predominantly affecting the middle-aged population. Arthroscopic partial or total debridement of the mucoid ACL is the surgical treatment of choice. However, little is discussed in the literature regarding subsequent knee instability and functional outcomes following complete ACL excision., Methods: A retrospective study was conducted on patients who underwent arthroscopic total ACL excision for mucoid ACL. Pre- and post-operatively, the Tegner-Lysholm score, the International Knee Documentation Committee (IKDC) Subjective Knee Form, and subjective functional instability were used to grade the clinical outcomes., Results: Ten out of the 13 patients who underwent complete ACL excision were available for evaluation. All patients presented with knee pain on deep flexion or extension with a painfully limited range of motion. Post-operatively, all patients were relieved of their original pain and dysfunction. The mean post-operative IKDC and Tegner-Lysholm scores were 74.96 and 83.6, respectively. All patients had a Lachman test positive, while only two had a grade 1 pivot shift test positive. Two patients had occasional functional instability only after strenuous exercises. None of the patients underwent subsequent ACL reconstruction., Conclusion: All patients reported improved functional outcomes. Only two out of 10 reported occasional instability during strenuous activity. Therefore, complete debridement of mucoid ACL in sedentary patients is safe and efficacious. However, active young patients may experience instability and require ACL reconstruction if it hinders their daily activities., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Aier et al.)

Background: Lone Bankart repair is associated with high rates of recurrence, especially in off-track Hill-Sachs (HS) lesion. The objective of the study was to assess the impact of remplissage in off-track HS lesion influencing the rate of redislocation and range of motion (ROM) of the shoulder., Material and Method: We retrospectively reviewed 136 patients for arthroscopic Bankart repair without remplissage (group 1, n = 77) or with remplissage (group 2, n =59) for recurrent anterior dislocation of the shoulder with glenoid bone loss of <25%. Further subgroups of on- and off-track HS lesion were based on computed tomographic assessment. At a minimum follow-up of 2 years; patients were evaluated for functional scores (Rowe, Constant-Murley, Western Ontario Shoulder Instability Index), redislocations, and ROM., Results: At a mean follow-up of 54 and 44 months in group 1 and 2, respectively, there was no difference in postoperative functional scores. There were significantly more dislocations in patients with Bankart repair with off-track lesion than in patients with Bankart repair with on-track lesion (P = .02). There were significantly fewer redislocations in patients with off-track lesion who underwent Bankart repair and remplissage than in those who did not undergo remplissage (P = .0007). Compared with group 1 patients, those in group 2 revealed a statistically significant loss of ROM., Conclusions: Although a nonremplissaged off-track HS lesion remains an important risk factor for recurrent instability, remplissage also results in significant loss of shoulder ROM compared with those who do not undergo remplissage., (Copyright © 2019 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Elsevier Inc. All rights reserved.)