Six month follow-up of early-onset chronic depression

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the <i>PRG4</i> gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. Herein, we report 3 patients with CACP syndrome from 2 unrelated families. All patients are female, born to consanguineous parents, and had camptodactyly since the first years of their lives. Two patients had a prior diagnosis of juvenile idiopathic arthritis. Hip changes were present in 2 patients, and 2 of 3 patients had undergone surgery for camptodactyly. Routine echocardiographic evaluations were normal during the 2-year follow-up. This paper represents the third study including CACP patients from Turkey. Clinically, all 3 patients resembled juvenile idiopathic arthritis cases and received unnecessary medication. There is also an ongoing need for improving awareness of CACP and an effective treatment focusing on the lubrication of the joint space in CACP patients.

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Correction to: Perampanel treatment in early-onset epileptic encephalopathy with infantile movement disorders associated with a de novo GRIN1 gene mutation: a 3-year follow-up

Neurological Sciences ◽

10.1007/s10072-021-05084-7 ◽

2021 ◽

Author(s):

Daniela Dicanio ◽

Antonio Gennaro Nicotera ◽

F. Cucinotta ◽

G. Di Rosa

Keyword(s):

Gene Mutation ◽

Movement Disorders ◽

Early Onset ◽

De Novo ◽

Epileptic Encephalopathy

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Perampanel treatment in Early-onset Epileptic Encephalopathy with infantile movement disorders associated with a de novo GRIN1 gene mutation: a 3-year follow-up

Neurological Sciences ◽

10.1007/s10072-020-04935-z ◽

2021 ◽

Author(s):

Daniela Dicanio ◽

Antonio Gennaro Nicotera ◽

F. Cucinotta ◽

G. Di Rosa

Keyword(s):

Gene Mutation ◽

Movement Disorders ◽

Early Onset ◽

De Novo ◽

Epileptic Encephalopathy

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Analysis of serum levels of titanium and aluminium ions in patients with early onset scoliosis operated upon using the magnetic growing rod—a single centre study of 14 patients

Spine Deformity ◽

10.1007/s43390-021-00335-1 ◽

2021 ◽

Author(s):

Mandar Deepak Borde ◽

Sarang Sapare ◽

Emile Schutgens ◽

Chadi Ali ◽

Hilali Noordeen

Keyword(s):

Early Onset ◽

Serum Levels ◽

Early Onset Scoliosis ◽

Ion Concentration ◽

Long Term Effects ◽

Blood Concentrations ◽

Growing Rod ◽

Rod System ◽

Rod Breakage

Abstract Study design A cross-sectional retrospective Level 3 study. Objective To study the serum levels of Titanium and Aluminium ions in patients operated using the magnetically controlled growing rod (MCGR) system. Summary of background data 14 consecutive patients of early onset scoliosis with varying etiology managed with MCGR system with a minimum follow-up of 24 months were selected for the study. The group consisted of two boys (14.3%) and 12 girls (85.7%). The average age of the patients at the time of surgery was 10.4 years (5–15 years). The average period of follow-up was 43.7 months (28–79 months). After informed consent of the subjects and their caretakers, serum levels of titanium and aluminium were measured. These levels were then assessed with regards to the number of screws used, number of distractions and complications. Methods The concentration of titanium and aluminium ions in the serum was measured using high resolution inductively coupled plasma mass spectrometry. Results For the sake of ease of assessment, patients were divided into three etiology-based groups—idiopathic (n = 6), neuromuscular (n = 2) and syndromic (n = 6). The mean serum titanium level was 15.9 μg/L (5.1–28.2 μg/L) while that of aluminium was 0.1 μmol/L (0.1–0.2 μmol/L). Of the 14 patients, 2 (14.2%) patients had mechanical failure (actuator pin dysfunction), 3 (21.4%) had rod breakage requiring revision surgery and one patient (7.1%) had surgical site infection managed with appropriate antibiotics. Patients undergoing revision for rod breakage did not show any metallosis of the tissues during surgery. Conclusion Analysis of patients with scoliosis operated using the magnetic growing rod system concludes that it is accompanied by presence of titanium in the blood but whether clinically significant or not needs to be ascertained by comparison of preoperative and postoperative blood concentrations of the titanium ions in individual subjects. The aluminium ion concentration remains within normal limits. Though implant malfunction may raise the titanium levels in the blood, its clinical significance needs to be determined. The aluminium levels are not affected irrespective to the presence or absence of complications. The long-term effects of raised titanium levels in the blood also warrant further prospective studies designed for precise and deeper analyses.

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Evaluation of changes in shoulder balance and prediction of final shoulder imbalance during growing-rod treatment for early-onset scoliosis

BMC Musculoskeletal Disorders ◽

10.1186/s12891-021-04221-9 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Ziyang Liu ◽

Tie Liu ◽

Yong Hai ◽

Lingyun Wu ◽

Junrui Jonathan Hai ◽

...

Keyword(s):

Early Onset ◽

Demographic Data ◽

Potential Effect ◽

Early Onset Scoliosis ◽

Shoulder Balance ◽

Related Factors ◽

Growing Rod ◽

Shoulder Imbalance ◽

Entire Treatment

Abstract Background Obtaining and maintaining final shoulder balance after the entire treatment course is essential for early-onset scoliosis (EOS) patients. The relatively small number of growing-rod (GR) graduates who complete final fusion has resulted in an overall paucity of research on the GR treatment of EOS and a lack of research on the shoulder balance of EOS patients during GR treatment. Methods Twenty-four consecutive patients who underwent GR treatment until final fusion were included. Radiographic shoulder balance parameters, including the radiographic shoulder height (RSH), clavicle angle (CA), and T1 tilt angle (T1T), before and after each step of the entire treatment were measured. Shoulder balance changes from GR implantation to the last follow-up after final fusion were depicted and analysed. Demographic data, surgical-related factors, and radiographic parameters were analysed to identify risk factors for final shoulder imbalance. The shoulder balance of patients at different time points was further analysed to explore the potential effect of the series of GR treatment steps on shoulder balance. Results The RSH showed substantial improvement after GR implantation (P = 0.036), during the follow-up period after final fusion (P = 0.021) and throughout the entire treatment (P = 0.011). The trend of change in the CA was similar to that of the RSH, and the T1T improved immediately after GR implantation (P = 0.037). Further analysis indicated that patients with shoulder imbalance before final fusion showed significantly improved shoulder balance after fusion (P = 0.045), and their RSH values at early postfusion and the final follow-up did not show statistically significant differences from those in the prefusion shoulder balance group (P > 0.05). Early postfusion shoulder imbalance (odds ratio (OR): 19.500; 95% confidence interval (CI) = 1.777–213.949; P = 0.015) was identified as an independent risk factor for final shoulder imbalance. Conclusions Shoulder balance could be improved by GR implantation but often changes during the multistep lengthening process, and the final result is relatively unpredictable. Final fusion could further adjust the prefusion shoulder imbalance. Focusing on the prefusion shoulder balance of GR graduates and providing patients with early shoulder balance after fusion might be necessary.

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