Cubital tunnel release with Wide Awake Local Anaesthesia No Tourniquet (WALANT) technique in an outpatient setting is safe and effective.

Ulnar nerve release is often performed under general anaesthesia. Wide Awake Local Anaesthesia No Tourniquet (WALANT) is a new anaesthetic method increasingly used by hand surgeons in an outpatient setting. It has advantages such as the possibility to shift surgical interventions out of the regular surgical theatre settings into an outpatient clinical setting, no risk of complications or side effects resulting from regional and general anesthesia and decreased costs. The use of WALANT has not been investigated extensively in elbow surgery. This study aims to evaluate clinical outcomes after ulnar nerve release under WALANT 27 patients with ulnar nerve release for cubital tunnel syndrome were included. The primary outcome was the presence of (remaining) symptoms after ulnar nerve release. Data was extracted from medical records. 13 out of 27 patients had (mild) remaining symptoms after ulnar nerve release, and 1 complication (superficial wound infection) was seen. Ulnar nerve release under WALANT is safe and effective in patients with primary ulnar nerve entrapment that have failed conservative therapy.

Return to sports following distal biceps tendon repair: A current concepts review.

Distal biceps tendon ruptures are relatively rare injuries but tend to occur in active and athletic populations, especially in weightlifting and contact sports. The distal biceps tendon is an important supinator of the forearm and flexor of the elbow, thus an injury to this ligament can be invalidating for athletes. The aim of this review was to determine the ability and the time to return to sports following distal biceps tendon repair in athletes and the level of performance. The literature is scarce about the return to sports among athletes. Most studies include athletes are National Football League (NFL) players, others are weightlifters and a few recreational athletes. The return to play rate after distal biceps tendon repair is high. The performances of the returned players were similar to matched players and most players returned to the same level. Most players-depending on the sport-were not able to return to competition within the same season. In order to manage expectations, it should be discussed preoperatively with the athlete (and their coach) that the return to sports rate is high, but the return will probably be the following season.

Is there a relationship between surgical volume and outcome for total elbow arthroplasty? A systematic review.

Purpose: Total elbow arthroplasty (TEA) is rarely performed compared to other arthroplasties. For many surgical procedures, literature shows better outcomes when they are performed by experienced surgeons and in so-called 'high-volume' hospitals. We systematically reviewed the literature on the relationship between surgical volume and outcomes following TEA. Methods: A literature search was performed using the MEDLINE, EMBASE and CINAHL databases. The literature was systematically reviewed for original studies comparing TEA outcomes among hospitals or surgeons with different annual or career volumes. For each study, data were collected on study design, indications for TEA, number of included patients, implant types, cut-off values for volume, number and types of complications, revision rate and functional outcome measures. The methodological quality of the included studies was assessed using the Newcastle-Ottawa Scale. Results: Two studies, which included a combined 2301 TEAs, found that higher surgeon volumes were associated with lower revision rates. The examined complication rates did not differ between high- and low-volume surgeons. In one study, low-hospital volume is associated with an increased risk of revision compared to high-volume hospitals, but for other complication types, no difference was found. Conclusions: Based on the results, the evidence suggests that high-volume centers have a lower revision rate in the long term. No minimum amount of procedures per year can be advised, as the included studies have different cut-off values between groups. As higher surgeon- and center-volume, (therefore presumably experience) appear to yield better outcomes, centralization of total elbow arthroplasty should be encouraged.

Implementing Palliative Care Teams Specialized in Dementia in Two Countries: Experiences of Failure and Success.

Much is known about palliative care needs of persons with dementia and their family. Less is known about how to successfully implement models that address those needs. We present specialist models in the Netherlands (2017-2018) and Northern Ireland (2016-2017) contrasting its evaluations. From implementation failure in the Netherlands compared with successful implementation in Northern Ireland, we learn that recognizing roles and competencies among all involved is essential in developing effective partnership relationships. All of this is facilitated by referral before the end of life and offering various training programs and in-patient and out-patient services and therapies to show benefits early.

Occult Fractures in Children with a Radiographic Fat Pad Sign of the Elbow: A Meta-Analysis of 10 Published Studies.

BACKGROUND: A radiographic fat pad sign after an elbow injury in children may indicate an occult fracture. Different incidences and locations of occult fractures have been reported. The primary objective of this meta-analysis was to assess the overall rate of occult fractures in children with a positive fat pad sign from the data of original studies. Secondary objectives were to assess the fracture types and to identify risk factors for sustaining an occult fracture. METHODS: A systematic literature search of the Embase, MEDLINE, and Cochrane databases was performed according to PRISMA guidelines. Studies on pediatric populations with a positive fat pad sign identified using a lateral elbow radiograph and with follow-up imaging were included in this meta-analysis. Included studies were assessed for risk of bias with use of the MINORS (Methodological Index for NOn-Randomized Studies) instrument. RESULTS: Ten studies with a total of 250 patients, of whom 104 had an occult fracture, were included. Accounting for heterogeneity between the studies, the overall occult fracture rate was 44.6% (95% confidence interval: 30.4% to 59.7%). The most common fracture locations were the supracondylar humerus (43%), proximal ulna (19%), proximal radius (17%), and lateral humeral condyle (14%). Definitions of a positive pad fad sign were not uniform among studies, and the follow-up imaging modality also varied (radiography, magnetic resonance imaging, or computed tomography). The average MINORS score was 10.1 for the 7 noncomparative studies and 18.7 for the 3 comparative studies, with both averages classified as moderate quality. We were not able to identify risk factors for an occult fracture in the presence of a positive fat pad sign. CONCLUSIONS: The occult fracture rate was 44.6% in pediatric elbow injuries with a positive fat pad sign. Supracondylar humeral fractures were the most frequently encountered type. The findings of this meta-analysis underline the potential clinical relevance of a positive fat pad sign in children and denote the opportunity for future studies to create evidence-based guidelines. LEVEL OF EVIDENCE: Level II. See Instructions for Authors for a complete description of levels of evidence.

Trends in quality of care and dying perceived by family caregivers of nursing home residents with dementia 2005-2019.

BACKGROUND: Dementia palliative care is increasingly subject of research and practice improvement initiatives. AIM: To assess any changes over time in the evaluation of quality of care and quality of dying with dementia by family caregivers. DESIGN: Combined analysis of eight studies with bereaved family caregivers' evaluations 2005-2019. SETTING/PARTICIPANTS: Family caregivers of nursing home residents with dementia in the Netherlands (n = 1189) completed the End-of-Life in Dementia Satisfaction With Care (EOLD-SWC; quality of care) and Comfort Assessment in Dying (EOLD-CAD, four subscales; quality of dying) instruments. Changes in scores over time were analysed using mixed models with random effects for season and facility and adjustment for demographics, prospective design and urbanised region. RESULTS: The mean total EOLD-SWC score was 33.40 (SD 5.08) and increased by 0.148 points per year (95% CI, 0.052-0.244; adjusted 0.170 points 95% CI, 0.055-0.258). The mean total EOLD-CAD score was 30.80 (SD 5.76) and, unadjusted, there was a trend of decreasing quality of dying over time of -0.175 points (95% CI, -0.291 to -0.058) per year increment. With adjustment, the trend was not significant (-0.070 EOLD-CAD total score points, 95% CI, -0.205 to 0.065) and only the EOLD-CAD subscale 'Well being' decreased. CONCLUSION: We identified divergent trends over 14 years of increased quality of care, while quality of dying did not increase and well-being in dying decreased. Further research is needed on what well-being in dying means to family. Quality improvement requires continued efforts to treat symptoms in dying with dementia.

Surgical treatment of chronic anterior radial head dislocations in missed Monteggia lesions in children: A rationale for treatment and pearls and pitfalls of surgery.

INTRODUCTION: The treatment of chronic radial head dislocations after Monteggia lesions in children can be challenging. This article provides a detailed description of the most frequently performed surgical technique: an ulna osteotomy followed by annular ligament reconstruction. Accordingly, we present the clinical and radiological results of 10 paediatric cases. MATERIAL AND METHODS: All paediatric patients that had a corrective osteotomy of the ulna for a missed Monteggia lesion between 2008 and 2014 were evaluated with standard radiographs and clinical examination. A literature search was performed to identify the relevant pearls and pitfalls of surgery. Primary outcome was range of motion. RESULTS: We included 10 patients, with a mean follow-up of 2.5 years. Postoperative range of motion generally improved 30.7°. Even in a patient with obvious deformity of the radial head, range of motion improved after surgery, without residual dislocation of the radial head. CONCLUSION: Corrective proximal ulna osteotomy with rigid plate fixation and annular ligament reconstruction yields good results in patients with chronic radial head dislocation following a Monteggia lesion. Surgery should be considered regardless of patient age or time since trauma. Given substantial arguments in literature, we discourage surgery if a CT scan shows dome-shaped radial head dysmorphic features in work-up to surgery.

Early Mobilization and Functional Discharge Criteria Affecting Length of Stay after Total Elbow Arthroplasty.

PURPOSE OF THE STUDY Decline in length of stay is of growing interest for patients, doctors and health insurances. The aim of our study was to assess the safety and length of stay after omission of casting, start of early mobilization and implementation of functional discharge criteria after total elbow arthroplasty (TEA). MATERIAL AND METHODS We retrospectively reviewed all patients' records who received a Coonrad-Morrey TEA in the period from January 1st, 2011 to December 31st, 2018. From these records, indications, demographic information and complications were derived. Length of stay was calculated from the hospital administration. Patients were divided in three groups to evaluate the two changes in post-operative care. RESULTS In total 125 patients receiving 126 Coonrad-Morrey TEAs were included with a mean length of stay of 5.5 days (range 2- 23) for the entire group. Omitting a post-operative cast led to decline in length of stay from 6.2 to 5.4 days (p < 0.001). Introduction of functional discharge criteria in August 2017 declined mean length of stay to 3.8 days (p < 0.001). The surgical technique (triceps-on versus triceps-off) was not a confounder (p = 0.20). Range of motion after one year was not significantly different between groups. DISCUSSION The length of stay declined after omission of a cast, and declined further after introducing functional discharge criteria. Since no higher complication rates were observed, the shortening of length of stay appears to be safe. This is in line with other fast-track programs, i.e. for hip and knee arthroplasty. The surgical technique used were not a confounder for the shortened length of stay, which further adds to the safety of the functional discharge criteria. CONCLUSIONS Omitting a cast and splint as regular post-operative treatment reduced the length of stay significantly without leading to more complications. Introduction of functional discharge criteria lowered the length of stay further without more complications. Key words: fast track rehabilitation, cast, total elbow arthroplasty, length of stay, discharge, complications.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Determination of the underlying etiology can be difficult given the broad differential diagnosis and the complexity of the genotype-phenotype relationships. This may change the diagnostic work-up into a time-consuming, costly and not always rewarding task. In this overview, the Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society (CACG-EPNS) presents a diagnostic algorithm for EOAc patients. In seven consecutive steps, the algorithm leads the clinician through the diagnostic process, including EOA identification, application of the Inventory of Non-Ataxic Signs (INAS), consideration of the family history, neuro-imaging, laboratory investigations, genetic testing by array CGH and Next Generation Sequencing (NGS). In children with EOAc, this algorithm is intended to contribute to the diagnostic process and to allow uniform data entry in EOAc databases.

There is a role for allografts in reconstructive surgery of the elbow and forearm.

PURPOSE: Allografts play an important role in tendon, ligament, and bone reconstruction surgery, particularly when suitable available autologous tissue is limited. Enthusiasm for the use of allografts in reconstructive orthopedic surgery has increased over the past decade, with an increase in allograft use in a variety of procedures. The purpose of this review is to provide an overview of the various applications and indications for the use of allografts in reconstructive surgical procedures of the elbow and forearm. METHODS: MEDLINE/PubMed was searched from 1990 through October 2018 for studies on tendon and bony allografts in elbow and forearm reconstructive surgery. RESULTS: The Achilles tendon allograft is the most frequently used tendinous allograft, predominantly used in distal biceps and triceps reconstruction. Although reconstruction of the ulnar collateral ligament of the elbow is generally performed using autografts, it has been shown that semitendinosus and gracilis allografts may be equally effective. Extensor hallucis longus allografts are recommended for reconstruction of the lateral collateral ligaments in patients with posterolateral rotatory instability, and there may be a role for osteochondral allograft transplantation in capitellar osteochondral defects. In addition, the use of allografts in reconstruction of the interosseous membrane and various bone pathologies (fractures, bone tumors, forearm nonunions) has been described in current literature. CONCLUSION: There is a large variety of pathology and procedures involving the use of various types of allografts in orthopedic reconstructive surgery of the elbow and forearm.

Differential gene expression of sirtuins between somatotropinomas and nonfunctioning pituitary adenomas.

Sirtuins 1-7 (SIRT) are a highly conserved family of histone deacetylases involved in the regulation of longevity that have a considerable impact in transcription, DNA repair regulation, telomeric stability, cell senescence and apoptosis. In the present study, SIRT1-7 mRNA levels were evaluated in 37 somatotropinomas and 31 nonfunctioning pituitary adenomas (NFPAs) using qPCR and relation to tumor size, invasiveness and Ki-67 proliferative index was made. Overexpression of SIRT1 was observed in 86.5% of somatotropinomas versus 41.9% of NFPAs (P < 0.01). SIRT3 was more underexpressed in NFPAs than somatotropinomas (77.4 and 40.5%, respectively, P < 0.01) as well as SIRT4 and SIRT7. Despite the lack of association between sirtuins and invasiveness or Ki-67 index, SIRT1 and SIRT3 expressions were related to tumor size. Mean of the largest diameter was smaller in adenomas with SIRT1 overexpression than with normal expression (P < 0.01) and SIRT3 underexpression was associated with larger tumors (P < 0.01). In conclusion, a pronounced difference in sirtuins expression was identified between pituitary adenomas, suggesting that these genes are potential markers of pituitary adenomas and could be employed in the characterization of somatotropinomas and NFPAs. The role of sirtuins in pathogenesis of pituitary tumors merits further investigation and possibly will provide new molecular insight about their progression.

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study.

INTRODUCTION: Acquired demyelinating syndromes (ADS) are immune-mediated demyelinating disorders of the central nervous system in children. A nationwide, multicentre and prospective cohort study was initiated in the Netherlands in 2006, with a reported ADS incidence of 0.66/100,000 per year and MS incidence of 0.15/100,000 per year in the period between 2007 and 2010. In this study, we provide an update on the incidence and the long-term follow-up of ADS in the Netherlands. METHODS: Children < 18 years with a first attack of demyelination were included consecutively from January 2006 to December 2016. Diagnoses were based on the International Paediatric MS study group consensus criteria. Outcome data were collected by neurological and neuropsychological assessments, and telephone call assessments. RESULTS: Between 2011 and 2016, 55/165 of the ADS patients were diagnosed with MS (33%). This resulted in an increased ADS and MS incidence of 0.80/100,000 per year and 0.26/100,000 per year, respectively. Since 2006 a total of 243 ADS patients have been included. During follow-up (median 55 months, IQR 28-84), 137 patients were diagnosed with monophasic disease (56%), 89 with MS (37%) and 17 with multiphasic disease other than MS (7%). At least one form of residual deficit including cognitive impairment was observed in 69% of all ADS patients, even in monophasic ADS. An Expanded Disability Status Scale score of ≥ 5.5 was reached in 3/89 MS patients (3%). CONCLUSION: The reported incidence of ADS in Dutch children has increased since 2010. Residual deficits are common in this group, even in monophasic patients. Therefore, long-term follow-up in ADS patients is warranted.

Development and validation of a severity scoring system for Zellweger spectrum disorders.

The lack of a validated severity scoring system for individuals with Zellweger spectrum disorders (ZSD) hampers optimal patient care and reliable research. Here, we describe the development of such severity score and its validation in a large, well-characterized cohort of ZSD individuals. We developed a severity scoring system based on the 14 organs that typically can be affected in ZSD. A standardized and validated method was used to classify additional care needs in individuals with neurodevelopmental disabilities (Capacity Profile [CAP]). Thirty ZSD patients of varying ages were scored by the severity score and the CAP. The median score was 9 (range 6-19) with a median scoring age of 16.0 years (range 2-36 years). The ZSD severity score was significantly correlated with all 5 domains of the CAP, most significantly with the sensory domain (r = 0.8971, P = <.0001). No correlation was found between age and severity score. Multiple peroxisomal biochemical parameters were significantly correlated with the severity score. The presently reported severity score for ZSD is a suitable tool to assess phenotypic severity in a ZSD patient at any age. This severity score can be used for objective phenotype descriptions, genotype-phenotype correlation studies, the identification of prognostic features in ZSD patients and for classification and stratification of patients in clinical trials.

Non-motor symptoms and quality of life in dopa-responsive dystonia patients.

BACKGROUND: In patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD) the occurrence of associated non-motor symptoms (NMS) is to be expected. Earlier studies report conflicting results with regard to the nature and severity of NMS. The aim of our study was to investigate the prevalence of psychiatric disorders, sleep problems, fatigue and health-related quality of life (HR-QoL) in a Dutch DRD cohort. METHODS: Clinical characteristics, motor symptoms, type and severity of psychiatric co-morbidity, sleep problems, fatigue and HR-QoL were assessed in DRD patients with a confirmed GCH1 mutation and matched controls. RESULTS: Twenty-eight patients were included (18 adults and 10 children), from 10 families. Dystonia symptoms were well-controlled in all patients. According to the DSM IV patients significantly more often met the criteria for a lifetime psychiatric disorder than controls (61% vs. 29%, p < 0.05). In particular the frequencies of generalized anxiety and agoraphobia were higher in patients (both 29% vs. 4%, p < 0.05). Patients scored significantly higher on daytime sleepiness than controls (ESS, 11.2 vs 5.7, p < 0.05). Adult patients had significantly lower scores on the mental component of the HR-QoL (47 vs. 54, p < 0.05) than controls mainly associated with (worse) quality of sleep. CONCLUSION: NMS were highly prevalent in our cohort of DRD patients, despite adequate treatment of motor symptoms. Our findings support the accumulating evidence of an important non-motor phenotype in DRD, with possible involvement of serotonergic mechanisms. This highlights the need to address NMS and the underlying neurobiology in patients with DRD.

Palliative care for people with dementia in the terminal phase: a mixed-methods qualitative study to inform service development.

BACKGROUND: When entering the dying phase, the nature of physical, psychosocial and spiritual care needs of people with dementia and their families may change. Our objective was to understand what needs to be in place to develop optimal palliative care services for the terminal phase in the face of a small evidence base. METHODS: In 2015-2016, we performed a mixed-methods qualitative study in which we (1) analysed the domains and recommendations from the European Association for Palliative Care (EAPC) dementia white paper and identified those with particular relevance for the terminal phase; (2) performed a series of focus group discussions with Dutch family caregivers of people with dementia in variable stages; (3) conducted interviews with experts involved in 15 special forms of terminal care for people with dementia in five countries. The terminal phase was defined as dying but because of the difficulty predicting it, we included advanced dementia. We initially analysed the three parts separately, followed by an integrated analysis of (1)-(3) to inform service development. RESULTS: (1) The EAPC domain of "avoiding overly aggressive, burdensome, or futile treatment" was regarded of particular relevance in the terminal phase, along with a number of recommendations that refer to providing of comfort. (2) Families preferred continuity in care and living arrangements. Despite a recognition that this was a time when they had complex support needs, they found it difficult to accept involvement of a large team of unfamiliar (professional) caregivers. Mostly, terminal care was preferred at the place of residence. (3) The expert interviews identified preferred, successful models in which a representative of a well-trained team has the time, authority and necessary expertise to provide care and education of staff and family to where people are and which ensure continuity of relationships with and around the patient. CONCLUSION: A mobile team that specializes in palliative care in dementia and supports professional and family caregivers is a promising model. Compared to transfer to a hospice in the last weeks or days, it has the potential to address the priorities of families and patients for continuity of care, relationships and specialist expertise.

Evaluation of the metaphyseal ulnar shortening technique according to Sennwald.

The outcome of a metaphyseal ulnar shortening osteotomy, reported by Sennwald as an alternative option for ulnar abutment syndrome, was evaluated with -regard to the functional results, pain relief and incidence of complications. METHOD: We conducted a review of 12 patients ; measured parameters were DASH score, PRWE, VAS for pain, grip force and wrist motion. RESULTS: Only disability improved significantly with a DASH score of 42 (p = 0.03). The function and pain assessment scores did not improve in 3 patients. We found no correlation between change in functional scores and other measured variables. Six patients were reoperated for prominent screw heads or new-onset distal radioulnar joint osteoarthritis. CONCLUSION: All osteomies healed fast and uneventfully and disability improved in most patients but 25% did not improve and 50% were re-operated. Further investigation is needed to evaluate the value of the metaphyseal osteotomy as an alternative treatment for ulnar abutment syndrome.

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.

We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a novel, homozygous, presumed pathogenic mutation (c.481C > T; p.(Arg161Cys)). Measurements of B6 vitamers in a CSF sample after pyridoxine administration revealed elevated pyridoxamine as the only metabolic marker for PNPO deficiency. With pyridoxine monotherapy the patient is seizure free and neurodevelopmental outcome at the age of 14 months is normal.

Feedback learning and behavior problems after pediatric traumatic brain injury.

BACKGROUND: Feedback learning is essential for behavioral development. We investigated feedback learning in relation to behavior problems after pediatric traumatic brain injury (TBI). METHOD: Children aged 6-13 years diagnosed with TBI (n = 112; 1.7 years post-injury) were compared with children with traumatic control (TC) injury (n = 52). TBI severity was defined as mild TBI without risk factors for complicated TBI (mildRF- TBI, n = 24), mild TBI with ⩾1 risk factor for complicated TBI (mildRF+ TBI, n = 51) and moderate/severe TBI (n = 37). The Probabilistic Learning Test was used to measure feedback learning, assessing the effects of inconsistent feedback on learning and generalization of learning from the learning context to novel contexts. The relation between feedback learning and behavioral functioning rated by parents and teachers was explored. RESULTS: No evidence was found for an effect of TBI on learning from inconsistent feedback, while the moderate/severe TBI group showed impaired generalization of learning from the learning context to novel contexts (p = 0.03, d = -0.51). Furthermore, the mildRF+ TBI and moderate/severe TBI groups had higher parent and teacher ratings of internalizing problems (p's ⩽ 0.04, d's ⩾ 0.47) than the TC group, while the moderate/severe TBI group also had higher parent ratings of externalizing problems (p = 0.006, d = 0.58). Importantly, poorer generalization of learning predicted higher parent ratings of externalizing problems in children with TBI (p = 0.03, ß = -0.21) and had diagnostic utility for the identification of children with TBI and clinically significant externalizing behavior problems (area under the curve = 0.77, p = 0.001). CONCLUSIONS: Moderate/severe pediatric TBI has a negative impact on generalization of learning, which may contribute to post-injury externalizing problems.

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

KCNH1 mutations have recently been described in six individuals with Temple-Baraitser syndrome (TMBTS) and six individuals with Zimmermann-Laband syndrome (ZLS). TMBTS is characterized by intellectual disability (ID), epilepsy, dysmorphic facial features, broad thumbs and great toes with absent/hypoplastic nails. ZLS is characterized by facial dysmorphism including coarsening of the face and a large nose, gingival enlargement, ID, hypoplasia of terminal phalanges and nails and hypertrichosis. In this study, we present four additional unrelated individuals with de novo KCNH1 mutations from ID cohorts. We report on a novel recurrent pathogenic KCNH1 variant in three individuals and add a fourth individual with a previously TMBTS-associated KCNH1 variant. Neither TMBTS nor ZLS was suspected clinically. KCNH1 encodes a voltage-gated potassium channel, which is not only highly expressed in the central nervous system, but also seems to play an important role during development. Clinical evaluation of our mutation-positive individuals revealed that one of the main characteristics of TMBTS/ZLS, namely the pronounced nail hypoplasia of the great toes and thumbs, can be mild and develop over time. Clinical comparison of all published KCNH1 mutation-positive individuals revealed a similar facial but variable limb phenotype. KCNH1 mutation-positive individuals present with severe ID, neonatal hypotonia, hypertelorism, broad nasal tip, wide mouth, nail a/hypoplasia, a proximal implanted and long thumb and long great toes. In summary, we show that the phenotypic variability of individuals with KCNH1 mutations is more pronounced than previously expected, and we discuss whether KCNH1 mutations allow for "lumping" or for "splitting" of TMBTS and ZLS.

The effect of a Galeazzi fracture on the strength of pronation and supination two years after surgical treatment.

The aim of this study was to determine the effect of a Galeazzi fracture on the strength of pronation and supination at a mean of two years after surgical treatment. The strength of pronation and supination was measured in varying rotational positions of the forearm of ten male patients (mean age 38.9 years (21 to 64)) who had undergone plate fixation for a Galeazzi fracture. The stability of the distal radioulnar joint was assessed, and a clinical assessment using the quick-Disabilities of the Arm Shoulder and Hand (quickDASH) questionnaire and patient-related wrist examination (PRWE) scores was undertaken. In addition, the strength of pronation and supination was measured in a male control group of 42 healthy volunteers (mean age 21.8 years (18 to 37)). The mean absolute loss of strength of supination in the injured compared with the non-injured arm throughout all ranges of forearm rotation was 16.1 kg (sem 5.3), corresponding to a relative loss of 12.5% (95% confidence interval (CI) 3.6 to 21.4). For the strength of pronation, the mean loss was 19.1 kg (sem 4.5), corresponding to a relative loss of 27.2% (95% CI 14.2 to 40.1). Loss of strength of supination following a Galeazzi fracture correlated with poor quickDASH (p = 0.03) and PRWE scores (p < 0.01). Loss of strength of pronation (27.2%), and of supination (12.5%) in particular, after a Galeazzi fracture is associated with worse clinical scores, highlighting the importance of supination of the forearm in function of the upper limb.