OBJECTIVE: The purpose of this systematic review was to evaluate the clinical and radiological outcomes together with the complication rates and failure rates at short-term follow-up following particulated juvenile cartilage allograft (PJCA) for the management of osteochondral lesions of the talus (OLT).
METHODS: During October 2023, the PubMed, Embase and Cochrane library databases were systematically reviewed to identify clinical studies examining outcomes following PJCA for the management of OLTs. Data regarding study characteristics, patient demographics, lesion characteristics, subjective clinical outcomes, radiological outcomes, complications and failures were extracted and analysed.
RESULTS: Twelve studies were included. In total, 241 patients underwent PJCA for the treatment of OLT at a weighted mean follow-up of 29.0 ± 24.9 months. The weighted mean lesion size was 138.3 ± 59.6 mm2 . Prior surgical intervention was recorded in seven studies, the most common of which was microfracture (65.9%). The weighted mean American Orthopaedic Foot and Ankle Society score improved from a preoperative score of 58.5 ± 3.2 to a postoperative score of 83.9 ± 5.3. The weighted mean postoperative magnetic resonance observation of cartilage repair tissue (MOCART) score was 48.2 ± 3.3. The complication rate was 25.2%, the most common of which was allograft hypertrophy (13.2%). Thirty failures (12.4%) were observed at a weighted mean time of 9.8 ± 9.6 months following the index procedure.
CONCLUSIONS: This systematic review demonstrated a moderate improvement in subjective clinical outcomes following PJCA for the treatment of OLT at short term follow-up. However, postoperative MOCART scores were reported as poor. In addition, a high complication rate (25.2%) and a high failure rate (12.4%) at short-term follow-up was observed, calling into question the efficacy of PJCA for the treatment of large OLTs. In light of the available evidence, PJCA for the treatment of large OLTs cannot be currently recommended.
METHODS: Level IV.

Patients not yet receiving medication provide insight to drug-naïve early physiology of Parkinson\'s Disease (PD). Wearable sensors can measure changes in motor features before and after introduction of antiparkinsonian medication. We aimed to identify features of upper limb bradykinesia, postural stability, and gait that measurably progress in de novo PD patients prior to the start of medication, and determine whether these features remain sensitive to progression in the period after commencement of antiparkinsonian medication. Upper limb motion was measured using an inertial sensor worn on a finger, while postural stability and gait were recorded using an array of six wearable sensors. Patients were tested over nine visits at three monthly intervals. The timepoint of start of medication was noted. Three upper limb bradykinetic features (finger tapping speed, pronation supination speed, and pronation supination amplitude) and three gait features (gait speed, arm range of motion, duration of stance phase) were found to progress in unmedicated early-stage PD patients. In all features, progression was masked after the start of medication. Commencing antiparkinsonian medication is known to lead to masking of progression signals in clinical measures in de novo PD patients. In this study, we show that this effect is also observed with digital measures of bradykinetic and gait motor features.

IDDBCS is a heterogeneous genetic syndrome with diverse clinical features including Intellectual disability and epilepsy. Using WES, Sanger sequencing, we identified a novel nonsense variant in the PHF21A gene responsible for IDDBCS syndrome. The patient has diverse and overlapping clinical phenotypes. The identified variant leads to abnormal secondary and tertiary structure of the protein and, consequently, affects its function.

UNASSIGNED: Developmental and epileptic encephalopathies (DEE) is a group of epilepsies where the epileptic activity, seizures and the underlying neurobiology contributes to cognitive and behavioral impairments. Uncovering the causes of DEE is important in order to develop guidelines for treatment and follow-up. The aim of the present study was to describe the clinical picture and to identify genetic causes in a patient cohort with DEE without known etiology, from a Norwegian regional hospital.
UNASSIGNED: Systematic searches of medical records were performed at Drammen Hospital, Vestre Viken Health Trust, to identify patients with epilepsy in the period 1999-2018. Medical records were reviewed to identify patients with DEE of unknown cause. In 2018, patients were also recruited consecutively from treating physicians. All patients underwent thorough clinical evaluation and updated genetic diagnostic analyses.
UNASSIGNED: Fifty-five of 2,225 patients with epilepsy had DEE of unknown etiology. Disease-causing genetic variants were found in 15/33 (45%) included patients. Three had potentially treatable metabolic disorders (SLC2A1, COQ4 and SLC6A8). Developmental comorbidity was higher in the group with a genetic diagnosis, compared to those who remained undiagnosed. Five novel variants in known genes were found, and the patient phenotypes are described.
UNASSIGNED: The results from this study illustrate the importance of performing updated genetic investigations and/or analyses in patients with DEE of unknown etiology. A genetic cause was identified in 45% of the patients, and three of these patients had potentially treatable conditions where available targeted therapy may improve patient outcome.

Introduction: Osteochondral lesions have been challenging to treat due to the limited regenerative capacity of native hyaline cartilage. Although surgical options are available, a newer technique, Particulated Juvenile Cartilage Allograft Transplantation (PJCAT) has shown promise for lesions of the knee and ankle. Short-term studies have been encouraging of its use, but there is still limited evidence of its long-term durability.Areas covered: This review will summarize the surgical options currently available for osteochondral lesions, outline the indications and contraindications of PJCAT, present the basic science and clinical evidence of the procedure, and describe the surgical approaches of this technique.Expert opinion: PJCAT is a promising method to treat osteochondral lesions. However, continued research is needed to document the efficacy of this technique and potential superiority over other techniques. Benefits include ease of application, potential for arthroscopic or minimally invasive delivery, no need for perpendicular access, no donor site morbidity, and delivery of viable chondrocytes in hyaline cartilage.

Symptomatic osteochondral lesions of the talus remain a challenging problem due to inability for cartilage lesions to heal. Numerous treatment options exist, including nonoperative management, marrow stimulating techniques, and autograft-allograft. Arthroscopic marrow stimulation forms fibrocartilage that has been shown to be biomechanically weaker than hyaline cartilage. Restorative tissue transplantation options are being used more for larger and cystic lesions. Newer biologics and particulated juvenile cartilage are currently under investigation for possible clinical efficacy. This article provides an evidenced-based summary of available literature on the use of biologics for treatment of osteochondral lesions of the talus.

Systemic AA amyloidosis is a serious complication of many chronic inflammatory disorders and chronic infections. Renal involvement is seen in the majority of the patients and can lead to end-stage renal disease. Renal transplantation can be performed in these patients; however, amyloidosis can recur in the transplanted kidneys. On the other hand, de novo AA amyloidosis in renal transplant patients has been rarely reported. We report a 17-yr-old patient with end-stage renal disease due to genitourinary anomalies who developed recurrent pyelonephritis after transplantation. Three yr after transplantation, renal biopsy was performed for proteinuria and AA amyloidosis was identified in the renal allograft. Although rare, chronic infections might cause de novo amyloidosis in renal transplant patients. Therefore, amyloidosis should be kept in mind in those types of patients who present with proteinuria.