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Objective: KCNT1‐related epilepsies encompass three main phenotypes: (i) epilepsy of infancy with migrating focal seizures (EIMFS), (ii) autosomal dominant or sporadic sleep‐related hypermotor epilepsy [(AD)SHE], and (iii) different types of developmental and epileptic encephalopathies (DEE). Many patients present with drug‐resistant seizures and global developmental delays. In addition to conventional anti‐seizure medications (ASM), multiple alternative therapies have been tested including the ketogenic diet (KD), cannabidiol (CBD—including Epidyolex © and other CBD derivatives) and quinidine (QUIN). We aimed to clarify the current state of the art concerning the benefits of those therapies administered to the three groups of patients. Methods: We performed a literature review on PubMed and EMBase with the keyword "KCNT1" and selected articles reporting qualitative and/or quantitative information on responses to these treatments. A treatment was considered beneficial if it improved seizure frequency and/or intensity and/or quality of life. Patients were grouped by phenotype. Results: A total of 43 studies including 197 patients were reviewed. For EIMFS patients (32 studies, 135 patients), KD resulted in benefit in 62.5% (25/40), all types of CBD resulted in benefit in 50% (6/12), and QUIN resulted in benefit in 44.6% (25/56). For (AD)SHE patients (10 studies, 32 patients), we found only one report of treatment with KD, with no benefit noted. QUIN was trialed in 8 patients with no reported benefit. For DEE patients (10 studies, 30 patients), KD resulted in benefit for 4/7, CBD for 1/2, and QUIN for 6/9. In all groups, conventional ASM are rarely reported as beneficial (in 5%–25% of patients). Significance: Ketogenic diet, CBD, and QUIN treatments appear to be beneficial in a subset of patient with drug‐resistant epilepsy. The KD and CBD are reasonable to trial in patients with KCNT1‐related epilepsy. Further studies are needed to identify optimal treatment strategies and to establish predictive response factors. Plain Language Summary: We performed an extensive review of scientific articles providing information about the therapeutic management of epilepsy in patients with epilepsy linked to a mutation in the KCNT1 gene. Conventional anti‐seizure treatments were rarely reported to be beneficial. The ketogenic diet (a medical diet with very high fat, adequate protein and very low carbohydrate intake) and cannabidiol appeared to be useful, but larger studies are needed to reach a conclusion. [ABSTRACT FROM AUTHOR]

The Aristaless-related homeobox (ARX) gene is located on the X chromosome and encodes a transcription factor that is essential for brain development. While the clinical spectrum of ARX-related disorders is well described in males, from X linked lissencephaly with abnormal genitalia syndrome to syndromic and non-syndromic intellectual disability (ID), its phenotypic delineation in females is incomplete. Carrier females in ARX families are usually asymptomatic, but ID has been reported in some of them, as well as in others with de novo variants. In this study, we collected the clinical and molecular data of 10 unpublished female patients with de novo ARX pathogenic variants and reviewed the data of 63 females from the literature with either de novo variants (n=10), inherited variants (n=33) or variants of unknown inheritance (n=20). Altogether, the clinical spectrum of females with heterozygous pathogenic ARX variants is broad: 42.5% are asymptomatic, 16.4% have isolated agenesis of the corpus callosum (ACC) or mild symptoms (learning disabilities, autism spectrum disorder, drug-responsive epilepsy) without ID, whereas 41% present with a severe phenotype (ie, ID or developmental and epileptic encephalopathy (DEE)). The ID/DEE phenotype was significantly more prevalent in females carrying de novo variants (75%, n=15/20) versus in those carrying inherited variants (27.3%, n=9/33). ACC was observed in 66.7% (n=24/36) of females who underwent a brain MRI. By refining the clinical spectrum of females carrying ARX pathogenic variants, we show that ID is a frequent sign in females with this X linked condition. [ABSTRACT FROM AUTHOR]

Background: Lunate pseudarthrosis is a complication of lunate fractures and few cases are described in the literature. We designed a case series of lunate pseudarthrosis, to acknowledge this topic and to show our clinical experience. Methods: Four patients were included in this study. Three went through surgical treatment of lunate nonunion. Results: At 2 years' follow-up, patients had slight improvement of range of motion (ROM) and Quick-DASH score compared to preoperative measures, though two patients developed scaphocapitate, radiolunate or midcarpal osteoarthritis. The fourth patient is asymptomatic and is being followed up. Conclusions: Surgical options depend on the localization of the pseudarthrosis in the lunate. Fragment excision can be a good option when the fragment is small, preserving scapholunate (SL) stability. Caution must be taken with dorsal pole pseudarthrosis, regarding midcarpal osteoarthritis. Level of Evidence: Level IV (Therapeutic) [ABSTRACT FROM AUTHOR]

Hyperselective neurectomy (HSN) procedures in the spastic upper limb aim to reduce tone by excising some branches of the involved peripheral motor nerves, at the point of entry of each motor ramus into the target muscle. In this prospective study, 42 patients with upper limb spasticity were treated by HSN for the muscles of elbow flexion, forearm pronation and wrist flexion and evaluated for their short-term results (average 6 months) and long-term outcomes (average 31 months). Results at both time points showed an effective reduction of the spastic tone, with no decrease of muscle strength in the operated spastic muscles. Comparison of results between the two time points showed durability of the improvement, which remained statistically significant despite a slight relapse in spasticity. The results of HSN compare favourably with the other techniques of partial neurectomy; however, the technique requires a detailed knowledge of upper limb motor anatomy. Level of evidence: II [ABSTRACT FROM AUTHOR]

Introduction: Cancer and anti-cancer therapies are often associated with pain, loss of self-worth, anxiety, and depression. Alternative therapies such as art therapy are available to improve patients' quality of life, by reducing asthenia, depression, anxiety and pain. Objective: The aim of this study was to assess the effectiveness of art therapy, namely theatre and plastic art workshops, on well-being and quality of life of participants in the Lucien Neuwirth Cancer Institute. Methods: A prospective study was conducted at the Lucien Neuwirth Cancer Institute (France), between April 2018 and July 2018. Cancer patients followed at the Institute have been asked to participate in 10 2-h sessions, once a week, based on theatre and plastic art workshops. Self-report questionnaires were used to evaluate both psychological and quality of life domains, but also satisfaction and well-being, before (pre-test) and after the last session (early post-test), as well as 1-month post-experimentation (late post-test). Results: Among the 14 patients who were enroled, the QLQ-C30 questionnaire revealed a pre-test median score of 50.0, an early post-test score of 51.5, and the late post-test revealed a score of 48.0. The anxiety test revealed median scores of 8.0 (pre-test), 6.0 (early post-test) and 6.0 (late post-test), respectively. The depression test reported median scores of 4.0 (pre-test), 5.0 (early post-test) and 6.0 (late post-test), respectively. The median well-being score difference observed between the beginning and the end of sessions is +2.13. The minimum satisfaction score observed is 3.50 out of 10, and the maximum is 10 out of 10. The median is between 7.00 and 10.00. Conclusions: Art therapy sessions had an impact on patients' welfare. We also reported a trend towards amelioration of quality of life that could probably be confirmed in a larger population, and potentially with a different methodology. [ABSTRACT FROM AUTHOR]

Purpose: It is usual for cancer patients to use complementary and alternative medicines (CAMs) and yet the literature evaluating their efficacy in cancer patients is very limited. The objective of the present study was to report on the nature, frequency of use, and patient-reported outcome of CAMs in a single-center study. Methods: All the consecutive patients treated between November 2017 and June 2018 at the Lucien Neuwirth Cancer Institute (France) were screened. Their reasons for using CAMs and their usage habits were collected. Patients evaluated their benefit. Results: Of the 209 patients screened, 200 patients were included. CAMs ranged from osteopathy, homeopathy, acupuncture, healing touch, magnetism, naturopathy, suction cups, Chinese medicine, reflexology, to hypnosis. CAMs were widely used (n = 166, 83%), the first being osteopathy (n = 99, 49.5%), the second homeopathy (n = 78, 39.0%), and finally acupuncture (n = 76, 38.0%). Whatever the CAM, high satisfaction rates were reported (median satisfaction: 61–81%). CAMs were mainly used to prevent/treat side effects of anticancer treatments (81.2% for healing touch), increase well-being (55.4% for naturopathy), improve the immune system (16.9% for homeopathy), and treat cancer (n = 3, 5.1% for homeopathy). Patients could easily consider using CAMs, as up to 50.8% would have accepted a consultation. Conclusions: The reasons for using CAMs differed among patients. They praised CAMs and kept asking for more information although there is limited evidence about their efficacy in the literature. Thus, prospective randomized controlled trials exploring the safety and efficacy of CAMs in cancer patients are needed. [ABSTRACT FROM AUTHOR]

Background: Lunate pseudarthrosis is a complication of lunate fractures and few cases are described in the literature. We designed a case series of lunate pseudarthrosis, to acknowledge this topic and to show our clinical experience. Methods: Four patients were included in this study. Three went through surgical treatment of lunate nonunion. Results: At 2 years' follow-up, patients had slight improvement of range of motion (ROM) and Quick-DASH score compared to preoperative measures, though two patients developed scaphocapitate, radiolunate or midcarpal osteoarthritis. The fourth patient is asymptomatic and is being followed up. Conclusions: Surgical options depend on the localization of the pseudarthrosis in the lunate. Fragment excision can be a good option when the fragment is small, preserving scapholunate (SL) stability. Caution must be taken with dorsal pole pseudarthrosis, regarding midcarpal osteoarthritis. Level of Evidence: Level IV (Therapeutic).

A conventional arthroscopic capsuloligamentous repair is a reliable surgical solution in most patients with scapholunate instability. However, this repair does not seem to be sufficient for more advanced injuries. The aim of this study was to evaluate the functional results of a wide arthroscopic dorsal capsuloligamentous repair (WADCLR) in the management of severe scapholunate instability. This was a prospective single-centre study undertaken between March 2019 and May 2021. The primary outcome was the evaluation of the reduction of the radiological deformity and the functional outcomes after WADCLR. A secondary outcome was the evaluation of the effectiveness of this technique in patients with the most severe instability (European Wrist Arthroscopy Society (EWAS) stage 5). The patients were reviewed postoperatively at three, six, and 12 months. The study included 112 patients (70 male and 42 female). Their mean age was 31.6 years (16 to 55). A total of three patients had EWAS stage 3A injuries, 12 had stage 3B injuries, 29 had stage 3C injuries, 56 had stage 4 injuries, and 12 had stage 5 injuries. There was a significant improvement of the radiological signs in all patients with a return to normal values. There was also a significant improvement in all aspects of function except for flexion, in which the mean increase was negligible (0.18° on average). There was also a significant improvement in all criteria for patients with a stage 5 injury, except for some limitation of extension, flexion, and radial and ulnar deviation, although these showed a trend towards improvement (except for flexion). WADCLR is a minimally invasive, easy, and reproducible technique with few complications, offering a clear improvement in function and a reduction in the radiological deformity at one year postoperatively., Competing Interests: The authors declare no funding and no conflict of interest related to this work., (© 2023 The British Editorial Society of Bone & Joint Surgery.)

Background  Many debates are still ongoing for the management of chronic scapholunate (SL) injuries. We have proposed an arthroscopic technique of dorsal capsulodesis with good clinical results. We now propose a radiological follow-up. Purpose  To determine if arthroscopic dorsal capsulodesis can improve the radiographic SL angle and maintain this correction over time. Methods  From January 2020 to January 2021, we included every patient with an SL instability and sorted them according to the European Wrist Arthroscopy Society (EWAS) classification. All patients had bilateral X-rays with a measurement of the radiolunate (RL) and SL angles for both the pathologic and healthy side. We also included patients with lunotriquetral or triangular fibrocartilage complex lesions. The exclusion criteria were the presence of arthritis and persistent intraoperative SL instability after capsulodesis. An arthroscopic dorsal capsulodesis was performed in all patients as originally described by Mathoulin. The RL and SL angles were then again measured on the immediate postoperative X-ray, and then again at 3, 6, and 12 months postoperatively. The statistical analysis was done using a paired Student's t -test with 145 degrees of freedom and α = 0.05. Results  We included a total of 146 patients with a 1-year follow-up. Both the RL angle and the SL angles approach the healthy side at 12 months postoperatively. The RL angle has increased from -7.23 degrees to 4.37 degrees; the difference is still statistically significative, but it is almost equal to the healthy side (5.16 degrees). The SL angle has lowered from 74.55 to 54.95; the difference is still statistically and radiologically significative (6.788 degrees) but has been lowered by 74.3%. Conclusion  This study shows that this technique can normalize the dorsal intercalated segment instability (DISI) over time without the need for any pinning or invasive ligament reconstructive surgery. Level of Evidence  Level IV, cohort study. Clinical Relevance  Dorsal capsulodesis should be considered in all reducible SL injuries, even when DISI is present., Competing Interests: Conflict of Interest None declared., (Thieme. All rights reserved.)

Competing Interests: Conflict of Interest None declared.

Hyperselective neurectomy (HSN) procedures in the spastic upper limb aim to reduce tone by excising some branches of the involved peripheral motor nerves, at the point of entry of each motor ramus into the target muscle. In this prospective study, 42 patients with upper limb spasticity were treated by HSN for the muscles of elbow flexion, forearm pronation and wrist flexion and evaluated for their short-term results (average 6 months) and long-term outcomes (average 31 months). Results at both time points showed an effective reduction of the spastic tone, with no decrease of muscle strength in the operated spastic muscles. Comparison of results between the two time points showed durability of the improvement, which remained statistically significant despite a slight relapse in spasticity. The results of HSN compare favourably with the other techniques of partial neurectomy; however, the technique requires a detailed knowledge of upper limb motor anatomy. Level of evidence: II.

Dorsal and volar wrist ganglions are benign tumors; most of them are asymptomatic. They can disappear spontaneously. Arthroscopic resection can be performed for pain or cosmetic concern. Dorsal ganglion is more common (70%). The hypothesis of the origin is the result of mucoid dysplasia in association with intracapsular and extrasynovial ganglia that occur at the level of the dorsal scapholunate complex. Volar wrist ganglia are less common (20%) and occur mainly in the radiocarpal joint. They are due to capsular destruction at the volar insertion of the SL ligament and arise from the interval between radio scaphocapitate and long radiolunate ligament., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Fractures of the proximal pole of the scaphoid with associated avascular necrosis and nonunion are well known to be problematic. Many techniques for fixation and reconstruction of the proximal pole of the scaphoid have been reported, often with poor results. One of the newer modalities of treatment for these difficult cases is excision of the proximal pole and replacement with a pyrocarbon implant. The ovoid shape of the implant acts as a spacer and repositions itself throughout the range of motion of the wrist. The procedure can be performed arthroscopically, thus reducing the morbidity and allowing the procedure to be a day case. Satisfactory results have been reported in elderly patients, but there is a paucity of literature regarding the outcomes in younger patients. This multicenter retrospective study evaluates the clinical, radiologic, and functional outcomes in patients under the age of 65 years with a minimum follow up of 5 years. There were 14 patients with scaphoid nonunion advanced collapse (SNAC) grade I, II, or III wrists, with a mean age of 53 years and mean follow up of 8.7 years. There were improvements in all of the patient related variables including VAS pain scores (7.5 to 0.7), extension (45° to 60°), flexion (32° to 53°), and grip strength (15.8 to 34.6 kg). Complications included volar subluxation of the implant, which was acutely surgically corrected (1), volar subluxation of the implant, with persistent pain that required a four-corner fusion (2), and secondary radial styloidectomy (3). This technique is an attractive, minimally invasive alternative for nonunion and avascular necrosis resulting from fractures of the proximal pole of the scaphoid. The authors provide details of the technique, including technical suggestions for performing the procedure.