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Split-hand/foot malformation (SHFM) is a clinically and genetically heterogeneous condition. We sequentially performed screening of the previously identified Japanese founder 17p13.3 duplication/triplication involving BHLHA9, array comparative genomic hybridization, and whole exome sequencing (WES) in newly recruited 41 Japanese families with non-syndromic and syndromic SHFM. We also carried out WES in seven families with nonsyndromic and syndromic SHFM in which underlying genetic causes including pathogenic copy-number variants (CNVs) remained undetected in our previous studies of 56 families. Consequently, we identified not only known pathogenic CNVs (17p13.3 duplications/triplications [n = 21], 2q31 deletion [n = 1], and 10q24 duplications [n = 3]) and rare variants in known causative genes (TP63 [n = 3], DLX5 [n = 1], IGF2 [n = 1], WNT10B [n = 3], WNT10B/PORCN [n = 1], and PORCN [n = 1]), but also a de novo 19q13.11 deletion disrupting UBA2 (n = 1) and variants that probably affect function in LRP6 (n = 1) and UBA2 (n = 1). Thus, together with our previous data based on testing of 56 families, molecular studies for a total of 97 families with SHFM revealed underlying genetic causes in 75 families, and clinical studies for the 75 families indicated a certain degree of correlation between genetic causes and phenotypes. The results imply that SHFM primarily occurs as a genetic disorder with genotype–phenotype correlations. Furthermore, the results together with previous data such as the development of SHFM in Lrp6 knockout mice, the presence of SHFM in two subjects with 19q13 deletions involving UBA2, and strong mouse Uba2 expression in the developing limb buds, imply that LRP6 and UBA2 represent plausible candidate genes for SHFM.

Background Children and young people make up an age group most vulnerable to falls. Various stability disorders may become instrumental in sustaining more frequent falls and resultant fractures. Correct morphological structure impacts overall efficiency of the foot, as well as offers significant diagnostic potential. Even minor foot disorders may affect the entire bio kinematic chain, also impacting the foot’s motility. Structural alterations within a foot may also impair balance in the standing position, and contribute to more frequent injuries. The study aimed to assess the relationship between feet deformities and postural stability deficits in schoolchildren prone to sustain accidental falls. Methods The study involved 200 children (101 girls and 99 boys) aged 10–15 years, randomly selected from primary schools. A 2D podoscan was used to assess the plantar part of the foot, while stabilometric examination was aided by the FreeMed dynamometric platform. Results Correlation between respective variables was reflected by Spearman’s rank coefficient. The subjects’ age negatively correlated with the COP range of movement along the Y axis, and the COP surface area, while their BMI negatively correlated with the COP trajectory’s length. Step regression analysis indicated that the width of the left foot, the left foot Wejsflog index, the left foot Clark’s angle, the hallux valgus angle were the essential predictors of stabilometric variables in girls. In boys, though, predictive value was associated with Clarke’s angle of the left and right foot, Wejsflog index of the right foot, and the width of both the left and right foot. Conclusions There is a statistically significant correlation between morphological variables of the foot and postural stability. When assessing the key variables of the foot and their interrelationship with postural stability, the Clarke’s angle, Wejsflog index, hallux valgus angle, and foot width, should be granted due prominence in the girls. As regards the boys, the following variables were established as predictive in assessing postural stability: Clarke’s angle, Wejsflog index, and foot width.

Dupuytren’s disease is a common fibroproliferative disorder that primarily affects the palm of the hand. While the disease is known for its characteristic palmar contractures, it also has a potential impact on the extensor mechanism of the hand, resulting in the development of boutonniere deformity, swan-neck deformity, and persistent metacarpophalangeal joint contracture due to extensor capsule stretching and tendon instability. These imbalances are challenging to correct under general or regional anesthesia. Wide awake local anesthesia without a tourniquet allows active range of motion and intraoperative patient collaboration. By understanding the underlying mechanisms and structures involved in these deformities and correcting them under local anesthesia without a tourniquet, hand surgeons can become more confident in correcting the deformity, demonstrating it to the patient, optimizing the rehabilitation protocol, and improving patient outcomes. •Examines Dupuytren's disease impact on extensor mechanism imbalances in the hand.•Principles of corrective surgery for extensor deformities secondary to Dupuytren.•Discuss pre- and postoperative hand therapy strategies.

Background Congenital limb deficiency is a rare and intractable disease, which impairs both function and appearance of the limbs. To establish adequate medical care, it is necessary to reveal the actual conditions and problems associated with this disease. However, there have been no extensive epidemiological surveys in Japan addressing this disease. This is the first nationwide epidemiological survey of congenital limb deficiency in this country. Methods With the cooperation of epidemiology experts, we performed a two-stage nationwide survey to estimate the number of patients with congenital limb deficiency and reveal basic patient features. We targeted orthopaedic surgery, paediatric, and plastic surgery departments. Hospitals were categorized according to the institution type and the number of hospital beds; hospitals were randomly selected from these categories. We selected 2283 departments from a total 7825 departments throughout Japan. In this study, we defined congenital limb deficiency as partial or total absence of the limbs, proximal to the proximal interphalangeal joint of the fingers/lesser toes or interphalangeal joint of the thumb/great toe. We distributed the first survey querying the number of initial patient visits from January 2014 to December 2015. Targets of the second survey were departments that reported one or more initial patient visits in the first survey. Results In the first survey, 1767 departments responded (response rate: 77.4%). Among them, 161 departments reported one or more initial patient visits. We conducted the second survey among these 161 departments, of which 96 departments responded (response rate: 59.6%). The estimated number of initial visits by patients with congenital limb deficiency was 417 (95% confidence interval: 339–495) per year in 2014 and 2015. The estimated prevalence of congenital limb deficiency in Japan was 4.15 (95% confidence interval: 3.37–4.93) per 10,000 live births. The sex ratio was 1.40. Upper limbs were more affected than lower limbs. Conclusions We revealed the estimated number of initial patient visits per year and birth prevalence of congenital limb deficiency in Japan. Our results will contribute to establishing the disease concept and grades of severity of congenital limb deficiency.

Introduction Progressive collapsing foot deformity (PCFD), formally known as “adult-acquired flatfoot deformity” (AAFFD), is a complex foot deformity consisting of multiple components. If surgery is required, joint-preserving procedures, such as a medial displacement calcaneal osteotomy (MDCO), are frequently performed. The aim of this systematic review is to provide a summary of the evidence on the impact of MDCO on foot biomechanics. Materials and methods A systematic literature search across two major sources (PubMed and Scopus) without time limitation was performed according to the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) criteria. Only original research studies reporting on biomechanical changes following a MDCO were included. Exclusion criteria consisted of review articles, case studies, and studies not written in English. 27 studies were included and the methodologic quality graded according to the QUACS scale and the modified Coleman score. Results The 27 included studies consisted of 18 cadaveric, 7 studies based on biomechanical models, and 2 clinical studies. The impact of MDCO on the following five major parameters were assessed: plantar fascia ( n  = 6), medial longitudinal arch ( n  = 9), hind- and midfoot joint pressures ( n  = 10), Achilles tendon ( n  = 5), and gait pattern parameters ( n  = 3). The quality of the studies was moderate to good with a pooled mean QUACS score of 65% (range 46–92%) for in-vitro and a pooled mean Coleman score of 58 (range 56–65) points for clinical studies. Conclusion A thorough knowledge of how MDCO impacts foot function is key in properly understanding the postoperative effects of this commonly performed procedure. According to the evidence, MDCO impacts the function of the plantar fascia and Achilles tendon, the integrity of the medial longitudinal arch, hind- and midfoot joint pressures, and consequently specific gait pattern parameters.

Background Kirner deformity is a rare anomaly of the little finger in adolescents, characterized by a deformity of the distal phalanx and a radiologically L-shaped epiphysis, along with palmar and radial angulation of the distal phalanx. Due to the rarity of these pathological findings, there are no systematic literature reviews available. This work serves as an overview of the clinical presentation, frequency and age distributions, as well as possible conservative and surgical treatment options. Methods We present five cases of patients with Kirner’s deformity of the little finger who underwent surgical treatment. A partial tenotomy of the flexor digitorum profundus tendon from the metaphyseal/diaphyseal distal phalanx was performed. In one case, a dorsal epiphysiodesis was also carried out. Additionally, a systematic review of the literature on Kirner’s deformity was conducted, summarizing the prevalence, previously used surgical treatment options, and epidemiological data. Results In the presented cases, the detachment of the FDP tendon and dorsal epiphysiodesis resulted in a good functional and aesthetic outcome. Regarding the epidemiological distribution of Kirner deformity, it is noted that significantly more females are affected than males (63% vs. 36%). The average age at presentation in the respective clinic was 9.36 years (± 2.5). In more than half of all reported cases, the deformity was bilateral. Surgical intervention was performed in only 7.4% of cases, which included FDP detachment or corrective osteotomies. More than 90% of patients were treated conservatively. Conclusion Kirner’s deformity is a rare condition affecting adolescents. In cases where functional limitations or pain symptoms are present, we recommend surgical intervention via detachment of the FDP tendon. If the deformity is an incidental finding without functional or aesthetic limitations, conservative therapy with a corrective splint can be initiated. From our perspective, early surgical treatment before the age of 12 improves both the long-term functional and aesthetic outcomes.

VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In addition to these core component features, patients may also have other congenital anomalies. Although diagnostic criteria vary, the incidence is estimated at approximately 1 in 10,000 to 1 in 40,000 live-born infants. The condition is ascertained clinically by the presence of the above-mentioned malformations; importantly, there should be no clinical or laboratory-based evidence for the presence of one of the many similar conditions, as the differential diagnosis is relatively large. This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral syndrome, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus. Though there are hints regarding causation, the aetiology has been identified only in a small fraction of patients to date, likely due to factors such as a high degree of clinical and causal heterogeneity, the largely sporadic nature of the disorder, and the presence of many similar conditions. New genetic research methods offer promise that the causes of VACTERL association will be better defined in the relatively near future. Antenatal diagnosis can be challenging, as certain component features can be difficult to ascertain prior to birth. The management of patients with VACTERL/VATER association typically centers around surgical correction of the specific congenital anomalies (typically anal atresia, certain types of cardiac malformations, and/or tracheo-esophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations. If optimal surgical correction is achievable, the prognosis can be relatively positive, though some patients will continue to be affected by their congenital malformations throughout life. Importantly, patients with VACTERL association do not tend to have neurocognitive impairment.

Abstract Degenerative spinal deformity afflicts a significant portion of the elderly and is increasing in prevalence. Recent evidence has revealed sagittal plane malalignment to be a key driver of pain and disability in this population and has led to a significant shift toward a more evidence-based management paradigm. In this narrative review, we review the recent literature on the epidemiology, evaluation, management, and outcomes of degenerative adult spinal deformity (ASD). ASD is increasing in prevalence in North America due to an aging population and demographic shifts. It results from cumulative degenerative changes focused in the intervertebral discs and facet joints that occur asymmetrically to produce deformity. Deformity correction focuses on restoration of global alignment, especially in the sagittal plane, and decompression of the neural elements. General realignment goals have been established, including sagittal vertical axis <50 mm, pelvic tilt <22°, and lumbopelvic mismatch <±9°; however, these should be tailored to the patient. Operative management, in carefully selected patients, yields satisfactory outcomes that appear to be superior to nonoperative strategies. ASD is characterized by malalignment in the sagittal and/or coronal plane and, in adults, presents with pain and disability. Nonoperative management is recommended for patients with mild, nonprogressive symptoms; however, evidence of its efficacy is limited. Surgery aims to restore global spinal alignment, decompress neural elements, and achieve fusion with minimal complications. The surgical approach should balance the desired correction with the increased risk of more aggressive maneuvers. In well-selected patients, surgery yields excellent outcomes.

Background Septoplasty, i.e., surgical correction of the deviated nasal septum, is the most common ear, nose and throat (ENT) operation in adults. Currently the main indication to perform septoplasty is nasal obstruction. However, the effectiveness of septoplasty for nasal obstruction in adults with a deviated nasal septum remains uncertain. Scientific evidence is scarce and inconclusive, and internationally accepted guidelines are lacking. Moreover, there is no consensus on whether or not septoplasty should be combined with concurrent turbinate surgery. The objective of the current ongoing trial is to study the effectiveness of septoplasty (with or without concurrent turbinate surgery) as compared to non-surgical management for nasal obstruction in adults with a deviated nasal septum, both in terms of subjective (health-related quality of life) as well as objective (nasal patency) outcome measures. Methods/Design The study is designed as a pragmatic, multicenter, parallel-group, randomized controlled trial. A total of 200 adults will be enrolled with nasal obstruction based on a deviated nasal septum and an indication for septoplasty according to current medical practice in the Netherlands. Participants will be randomized to either septoplasty (with or without concurrent turbinate surgery as originally indicated by the otorhinolaryngologist) or a non-surgical watchful waiting strategy. Follow-up visits will be scheduled at 0, 3, 6, 12, and 24 months. During each follow-up visit, health-related quality of life questionnaires will be administered and measurements of four-phase rhinomanometry and peak nasal inspiratory flow will be performed. Costs will be studied using a patient-based diary. Effects of septoplasty on health-related quality of life (primary outcome) and nasal patency will be calculated as mean differences with 95 % confidence intervals. Subgroup analyses according to gender, age, and severity of the septal deviation will be performed. All analyses will be performed on an intention-to-treat basis. Discussion With the results of this study we aim to contribute to the development of evidence-based guidelines regarding indications for septoplasty. Trial registration Nederlands Trial Register/Dutch Trial Registry ( www.trialregister.nl ), trial identifying number: NTR3868 . Registered on 21 February 2013.

Rheumatoid arthritis (RA) is a chronic, inflammatory, systemic autoimmune disease, affecting the joints with varying severity among patients. The risk factors include age, gender, genetics, and environmental exposure (cigarette smoking, air pollutants, and occupational). Many complications can follow, such as permanent joint damage requiring arthroplasty, rheumatoid vasculitis, and Felty syndrome requiring splenectomy if it remains unaddressed. As there is no cure for RA, the treatment goals are to reduce the pain and stop/slow further damage. Here, we present a brief summary of various past and present treatment modalities to address the complications associated with RA.