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"Arm Abnormalities Patients."
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Understanding of the transition to adult healthcare services among individuals with VACTERL association in Sweden: A qualitative study
Current knowledge of transitional care from the perspective of individuals with congenital malformations is scarce. Their viewpoints are required for the development of follow-up programs and transitional care corresponding to patients’ needs. The study aimed to describe expectations, concerns, and experiences in conjunction with transfer to adult health care among adolescents, young adults, and adults with VACTERL association, (i.e. vertebral defects, anorectal malformations (ARM), cardiac defects (CHD), esophageal atresia (EA), renal, and limb abnormalities). Semi-structured telephone interviews were performed and analyzed with qualitative content analysis. Of 47 invited individuals, 22 participated (12 males and 10 females). An overarching theme emerged: Leaving the safe nest of pediatric health care for an unfamiliar and uncertain follow up yet growing in responsibility and appreciating the adult health care. The participants described expectations of qualified adult health care but also concerns about the process and transfer to an unfamiliar setting. Individuals who were transferred described implemented or absence of preparations. Positive and negative experiences of adult health care were recounted including being treated as adults. The informants described increasing involvement in health care but were still supported by their parents. Ongoing follow up of health conditions was recounted but also uncertainty around the continuation, missing follow up and limited knowledge of how to contact health care. The participants recommended information ahead of transfer and expressed wishes for continued health care with regular follow up and accessibility to a contact person. Based on the participants’ perspective, a transitional plan is required including early information about transfer and follow up to prepare the adolescents and reduce uncertainty concerning future health care. Meetings with the pediatric and adult team together with the patient and the parents are essential before transfer. Follow up should be centralized to centers with multi-professional teams well-experienced with the condition. Further studies are warranted to evaluate the transition process for adolescents and young adults with complex congenital health conditions.
Journal Article
Sprengel deformity: What is the functional outcome of conservative treatment versus surgical correction?
Background
Sprengel deformity is a rare congenital malformation of the scapula defined by malposition during embryonic development. Affected individuals have limited range of motion of the shoulder and torticollis. Surgical reconstruction is an option to treat patients with severe deformity and functional impairment. This retrospective single centre study evaluated 19 patients with 21 Sprengel deformities treated from 2016 to 2023. 11/19 patients had mild ROM limitations of the affected shoulder with a median abduction of 130° (interquartile range (IQR) 100–150) and were treated conservatively. 8/19 patients with severe Sprengel deformity and functional impairment underwent surgery (median age 6 years (IQR 4–6)). Surgery was conducted in a modified technique according to Green. The Cavendish and Rigault scores were employed to analyse function, cosmesis and the radiographic location of the scapula. Patient reported outcome measurements (EQ-5D-Y and the quick Disabilities of the Arm, Shoulder and Hand Questionnaire) were both administered at the latest follow-up.
Results
Patients treated conservatively had a median abduction of the affected arm of 130° (IQR 100–150) and a median Cavendish and Rigault score of both 2 (IQR 2–3 and 1.3-2, respectively). In the surgery group the median abduction improved by 45° (IQR 28–53) from 90° (IQR 90–90) preoperatively to 135° (IQR 120–140) 3 months postoperatively and was 110° (IQR 108–128) at latest follow-up. The median Cavendish score improved from 4 (IQR 2–4) to 1 (IQR 1–2). The median Rigault score was lowered from 3 (IQR 3–3) to 1 (IQR 1–2). The median time to return to daily life was 3 months (IQR 2.2–3.5). The median quickDASH score was 11.4 (IQR 7–31) in the surgical cohort and 9.1 (IQR 5–22) in the conservative cohort at median maximum follow-up of 62 months (IQR 22–118). The median EQ-VAS (Visual Analogue Scale) score was 81/100 (IQR 79–85/100) in the surgical cohort and 80/100 (IQR 59–95/100) in the non-surgical cohort. 4/8 patients treated surgically had fully reversible complications.
Conclusions
Surgical treatment of severe Sprengel deformity improves abduction of the affected shoulder and reduces disability in daily life. Patients with mild Sprengel deformity can have very good function of the shoulder and should not be considered for surgery.
Journal Article
Fractional Carbon Dioxide Laser for Keratosis Pilaris: A Single-Blind, Randomized, Comparative Study
Objective. Keratosis pilaris (KP) is a common condition which can frequently be cosmetically disturbing. Topical treatments can be used with limited efficacy. The objective of this study is to evaluate the effectiveness and safety of fractional carbon dioxide (CO2) laser for the treatment of KP. Patients and Methods. A prospective, randomized, single-blinded, intraindividual comparative study was conducted on adult patients with KP. A single session of fractional CO2 laser was performed to one side of arm whereas the contralateral side served as control. Patients were scheduled for follow-up at 4 and 12 weeks after treatment. Clinical improvement was graded subjectively by blinded dermatologists. Patients rated treatment satisfaction at the end of the study. Results. Twenty patients completed the study. All patients stated that the laser treatment improved KP lesions. At 12-week follow-up, 30% of lesions on the laser-treated side had moderate to good improvement according to physicians’ global assessment ( p = 0.02 ). Keratotic papules and hyperpigmentation appeared to respond better than the erythematous component. Four patients with Fitzpatrick skin type V developed transient pigmentary alteration. Conclusions. Fractional CO2 laser treatment may be offered to patients with KP. Dark-skinned patients should be treated with special caution.
Journal Article
Retained bullet fragments in pregnancy-capable individuals: Implications for surgical and public health practice
The United States is facing a gun violence public health crisis that disproportionately affects young people and people of color. Since 2001, the rate of nonfatal firearm assaults among women in the United States has more than tripled, and women under the age of 45 experience nonfatal firearm injuries at a rate over three times higher than women over age 45. 2 RBFs are associated with elevated blood lead levels. 3 Retained bullet fragments are of particular concern in pregnant patients because pregnancy is a hypermetabolic state that can mobilize lead into the bloodstream. 4 Lead is toxic for fetal development and can enter fetal circulation through the placenta. 4 Elevated maternal blood lead is associated with numerous abnormalities in fetal development, including physical and cognitive defects. 4 Despite the established correlation between RBFs and elevated lead levels and substantial evidence linking lead and adverse fetal outcomes, little has been done to address RBFs during pregnancy. The American College of Obstetricians and Gynecologists (ACOG) – the leading body in the United States for clinical practice guidelines in women's health – encourages risk-factor-based lead screening, but does not currently list RBFs as a risk factor for lead exposure. 7 The Centers for Disease Control and Prevention guidelines for identifying and managing lead exposure in pregnancy-capable people do identify retained bullets as lead exposure and encourage shared decision-making around potential RBF removal and lead testing. 8 For the management of elevated blood lead levels in pregnancy, ACOG guidelines recommend more frequent measurement of lead levels, removal of the exposure if possible, calcium and iron supplementation, chelation if severe, and possible avoidance of breastfeeding after birth. 7 While surgical removal of RBFs may not be advisable in most cases, surgeons caring for patients immediately after firearm injury should educate patients on the potential impact of RBFs, emphasizing the importance of this lead exposure in future pregnancies and encouraging early establishment of prenatal care.
Journal Article
Abnormal arm swing movements in Parkinson’s disease: onset, progression and response to L-Dopa
Background
Reduced arm swing movements during gait are an early motor manifestation of Parkinson’s disease (PD). The clinical evolution, response to L-Dopa and pathophysiological underpinning of abnormal arm swing movements in PD remain largely unclear. By using a network of wearable sensors, this study objectively assesses arm swing movements during gait in PD patients across different disease stages and therapeutic conditions.
Methods
Twenty healthy subjects (HS) and 40 PD patients, including 20 early-stage and 20 mid-advanced subjects, underwent a 6-m Timed Up and Go test while monitored through a network of wearable inertial sensors. Arm swing movements were objectively evaluated in both hemibodies and different upper limb joints (shoulder and elbow), using specific time-domain (range of motion and velocity) and frequency-domain measures (harmonics and total harmonic distortion). To assess the effects of L-Dopa, patients under chronic dopaminergic therapy were randomly examined when OFF and ON therapy. Finally, clinical-behavioral correlations were investigated, primarily focusing on the relationship between arm swing movements and cardinal L-Dopa-responsive motor signs, including bradykinesia and rigidity.
Results
Compared to HS, the whole group of PD patients showed reduced range of motion and velocity, alongside increased asymmetry of arm swing movements during gait. Additionally, a distinct increase in total harmonic distortion was found in patients. The kinematic changes were prominent in the early stage of the disease and progressively worsened owing to the involvement of the less affected hemibody. The time- and frequency-domain abnormalities were comparable in the two joints (i.e., shoulder and elbow). In the subgroup of patients under chronic dopaminergic treatment, L-Dopa restored patterns of arm swing movements. Finally, the kinematic alterations in arm swing movements during gait correlated with the clinical severity of bradykinesia and rigidity.
Conclusions
Arm swing movements during gait in PD are characterized by narrow, slow, and irregular patterns. As the disease progresses, arm swing movements deteriorate also in the less affected hemibody, without any joint specificity. The positive response to L-Dopa along with the significant correlation between kinematics and bradykinesia/rigidity scores points to the involvement of dopaminergic pathways in the pathophysiology of abnormal arm swing movements in PD.
Journal Article
Identification of alterations in macrophage activation associated with disease activity in systemic lupus erythematosus
Systemic lupus erythematosus (SLE) is characterized by abnormalities in B cell and T cell function, but the role of disturbances in the activation status of macrophages (Mϕ) has not been well described in human patients. To address this, gene expression profiles from isolated lymphoid and myeloid populations were analyzed to identify differentially expressed (DE) genes between healthy controls and patients with either inactive or active SLE. While hundreds of DE genes were identified in B and T cells of active SLE patients, there were no DE genes found in B or T cells from patients with inactive SLE compared to healthy controls. In contrast, large numbers of DE genes were found in myeloid cells (MC) from both active and inactive SLE patients. Among the DE genes were several known to play roles in Mϕ activation and polarization, including the M1 genes STAT1 and SOCS3 and the M2 genes STAT3, STAT6, and CD163. M1-associated genes were far more frequent in data sets from active versus inactive SLE patients. To characterize the relationship between Mϕ activation and disease activity in greater detail, weighted gene co-expression network analysis (WGCNA) was used to identify modules of genes associated with clinical activity in SLE patients. Among these were disease activity-correlated modules containing activation signatures of predominantly M1-associated genes. No disease activity-correlated modules were enriched in M2-associated genes. Pathway and upstream regulator analysis of DE genes from both active and inactive SLE MC were cross-referenced with high-scoring hits from the drug discovery Library of Integrated Network-based Cellular Signatures (LINCS) to identify new strategies to treat both stages of SLE. A machine learning approach employing MC gene modules and a generalized linear model was able to predict the disease activity status in unrelated gene expression data sets. In summary, altered MC gene expression is characteristic of both active and inactive SLE. However, disease activity is associated with an alteration in the activation of MC, with a bias toward the M1 proinflammatory phenotype. These data suggest that while hyperactivity of B cells and T cells is associated with active SLE, MC potentially direct flare-ups and remission by altering their activation status toward the M1 state.
Journal Article
Outcome evaluation of new calcium titanate schanz-screws for external fixators. First clinical results and cadaver studies
Objective
External fixators are important for correcting length discrepancies and axis deformities in pediatric or trauma orthopedic surgery. Pin loosening is a common pitfall during therapy that can lead to pain, infection, and necessary revisions. This study aims to present clinical data using calcium titanate (CaTiO
3
) Schanz screws and to measure the fixation strength.
Patients and methods
22 titanate screws were used for external fixators in 4 pediatric patients. Therapy was initiated to lengthen or correct axial deformities after congenital abnormalities. The maximum tightening torque was measured during implantation, and the loosening torque was measured during explantation. In addition, screws of the same type were used in a cadaver study and compared with stainless steel and hydroxyapatite-coated screws. 12 screws of each type were inserted in four tibias, and the loosening and tightening torque was documented.
Results
The fixation index in the in vivo measurement showed a significant increase between screw insertion and extraction in three of the four patients. The pins were in situ for 91 to 150 days, and the torque increased significantly (
P
= 0.0004) from insertion to extraction. The cadaveric study showed lower extraction torques than insertion torques, as expected in this setting. The calculated fixation index was significantly higher in the CaTiO
3
group than in the other groups (
P
= 0.0208 vs. HA and
P
< 0.0001 vs. steel) and in the HA group vs. plain steel group (
P
= 0.0448).
Conclusion
The calcium titanate screws showed favorable fixation strength compared to HA and stainless steel screws and should be considered in long-term therapy of external fixation.
Journal Article
Spontaneous humeral torsion deformity correction after displaced supracondylar fractures in children
Background
After displaced supracondylar humerus fractures (SCHF) in children, residual deformities are common with cubitus varus (CV) being the clinically most visible. Distal fragment malrotation may lead to instability, fragment tilt and subsequent CV. Detection and assessment of malrotation is difficult and the fate of post-traumatic humeral torsion deformity is unknown. The aim of this study was to evaluate the incidence of humeral torsion differences in children with surgically treated SCHF and to observe spontaneous changes over time.
Methods
A cohort of 27 children with displaced and surgically treated SCHF were followed prospectively from the diagnosis until twelve months after trauma. Clinical, photographic, sonographic and radiological data were obtained regularly. Differences in shoulder and elbow motion, elbow axis, sonographic humeral torsion measurement and radiological evaluation focusing on rotational spur were administered.
Results
Six weeks after trauma, 67% of SCHF children had a sonographically detected humeral torsion difference of > 5° (average 14.0 ± 7.6°). Of those, 44% showed a rotational spur, slight valgus or varus on radiographs. During follow-up, an average decrease of the difference from 14° (six weeks) to 7.8° (four months) to 6.5° (six months) and to 4.9° (twelve months) was observed. The most significant correction of posttraumatic humeral torsion occurred in children < 5 years and with internal malrotation > 20°.
Conclusion
After displaced and surgically treated SCHF, most children had humeral torsion differences of both arms. This difference decreased within one year after trauma due to changes on the healthy side or correction in younger children with severe deformity.
Level of Evidence/Clinical relevance
Therapeutic Level IV
Journal Article
Preserved finger flexion following high median nerve transection: a rare case report and review of literature
Background
High-level complete transection of the median nerve will impair the flexion function and sensation of the thumb and index finger, and will also result in weakened wrist flexion strength. In rare cases, atypical clinical manifestations may arise, potentially due to ulnar-to-median nerve anomalies, such as Marinacci communication (MC), or the function of muscles directly innervated by ulnar nerve branches.
Case presentation
A 52-year-old male sustained a chainsaw injury to his left elbow and forearm, resulting in complete transection of the median nerve. Despite this, he retained partial finger flexion, with muscle strength reaching grade IV in the 3rd-5th fingers on postoperative day one. Marinacci communication, a rare anatomical variant, may explain the preserved motor function in the absence of direct nerve continuity. Electrophysiological studies are key to diagnosing MC, which can influence recovery after nerve injuries. In this case, preserved flexion function suggests the presence of MC. Greater awareness and understanding of this communication are essential for accurate diagnosis and treatment planning.
Conclusion
There exists a low-probability anatomical variation in the forearm concerning the ulnar and median nerves. This case contributes further to our understanding of the clinical presentation of hand function following high median nerve transection. It also provides valuable evidence for further exploration of the physiological aspects of never communication.
Journal Article