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Developmental Medicine and Child... Jul 2024Schaaf-Yang syndrome (SYS) is a complex neurodevelopmental disorder characterized by autism spectrum disorder, joint contractures, and profound hypothalamic dysfunction.... (Review)
Review
Schaaf-Yang syndrome (SYS) is a complex neurodevelopmental disorder characterized by autism spectrum disorder, joint contractures, and profound hypothalamic dysfunction. SYS is caused by variants in MAGEL2, a gene within the Prader-Willi syndrome (PWS) locus on chromosome 15. In this review, we consolidate decades of research on MAGEL2 to elucidate its physiological functions. Moreover, we synthesize current knowledge on SYS, suggesting that while MAGEL2 loss-of-function seems to underlie several SYS and PWS phenotypes, additional pathomechanisms probably contribute to the distinct and severe phenotype observed in SYS. In addition, we highlight recent therapeutic advances and identify promising avenues for future investigation.
PubMed: 38950199
DOI: 10.1111/dmcn.16018 -
Postepy Psychiatrii Neurologii Mar 2024Scleroderma is a multisystemic disorder characterised by inflammatory and vascular anomalies, and excess fibrosis. Progressive systemic sclerosis (PSS) mainly progresses...
PURPOSE
Scleroderma is a multisystemic disorder characterised by inflammatory and vascular anomalies, and excess fibrosis. Progressive systemic sclerosis (PSS) mainly progresses with skin, joint, lung, heart, and kidney involvement. Involvement of cerebral vessels is rare in both localised scleroderma and PSS. Transient ischemic attack and stroke are rare complications of scleroderma.
CASE DESCRIPTION
We present a 60-year-old stroke patient with localised scleroderma presenting with impaired speech, forgetting words, and occasional temporary memory loss.
COMMENT
In the case we present, no pathology was found in the clinical and laboratory tests performed in terms of ischemic risk factors. Skin findings included contracture, skin biopsy results, and antibody positivity related to scleroderma. Given the current pathogenesis of scleroderma, the patient was suspected of having a stroke.
PubMed: 38948684
DOI: 10.5114/ppn.2023.134450 -
Cureus May 2024A 59-year-old woman, who previously underwent surgery on her left long finger A1 pulley and left small finger distal interphalangeal joint for triggering and mallet...
A 59-year-old woman, who previously underwent surgery on her left long finger A1 pulley and left small finger distal interphalangeal joint for triggering and mallet deformity at another medical facility in March 2021, sought evaluation at an Orthopedics Hand clinic. She presented with limited finger movement, a flexion contracture, and difficulty extending her left long finger. Examination revealed an A2 pulley injury with extensive scar tissue. Subsequently, she underwent surgery to remove the scar tissue and reconstruct the A2 pulley using suture tape anchors. This case highlights the negative outcome following A1 pulley release due to an unintended A2 injury, resulting in significant scarring and an intrinsic plus digit posture. Additionally, it underscores the potential effectiveness of using non-absorbable synthetic sutures to minimize scarring and promote an early range of motion in cases where healing leads to excessive scarring around the flexor tendon sheath.
PubMed: 38947663
DOI: 10.7759/cureus.61250 -
Annals of Agricultural and... Jun 2024Subtalar arthroereisis is a procedure commonly performed in children with flat feet. The procedure is performed when conservative treatment did not have the desired...
INTRODUCTION AND OBJECTIVE
Subtalar arthroereisis is a procedure commonly performed in children with flat feet. The procedure is performed when conservative treatment did not have the desired effect,or when the patient's abnormal symptoms are very severe and make it difficult for them to function normally in daily life. The aim of this study was to assess whether subtalar arthroereisis and physiotherapy improve the quality of life among children with flat feet.
MATERIAL AND METHODS
The study comprised 79 patients (140 operated feet) diagnosed with a flat foot defect who underwent a subtalar arthroereisis procedure. A self-administered questionnaire and a shortened version of the standardised WHOQOL-BREF questionnaire were used in the research.
RESULTS
The study confirmed that the patients' quality of life after surgery was high in all the areas regarding the somatic, psychological, social and environmental domains. In the group of children assessed 13-24 months after surgery. it was also found that rapid fatigue after exercise (30% ± 9%) and Achilles tendon contracture (7% ± 4%) were significantly reduced. The results of the study confirmed that subtalar arthroereisis contributes to a decreased demand for orthoses in children (9% ± 6%) and for orthopaedic footwear (11% ± 5%) than before surgery.
CONCLUSIONS
The employment of subtalars arthroereisis has a positive effect on the quality of life of children with flat feet. The surgery contributes to a reduction in pain and other abnormal symptoms that are associated with flat feet. In addition, physiotherapy performed after the procedure had a positive effect on the healing process and contributed to the improvement of the children's quality of life.
Topics: Humans; Quality of Life; Child; Flatfoot; Female; Male; Surveys and Questionnaires; Adolescent; Subtalar Joint; Child, Preschool
PubMed: 38940112
DOI: 10.26444/aaem/173220 -
Journal of Burn Care & Research :... Jun 2024This study examines a rare case of frostbite on the hands caused by liquid nitrogen, focusing on the scar maturation process. Frostbite is typically less prone to...
This study examines a rare case of frostbite on the hands caused by liquid nitrogen, focusing on the scar maturation process. Frostbite is typically less prone to abnormal scarring compared to burns, and this report contrasts the differences in scar maturation between the two. A 31-year-old male hospital employee sustained first- to second-degree frostbite on his gloved hands from a 20-second exposure to liquid nitrogen while changing a cylinder. Conservative treatment was applied, and the patient was monitored for 9 months. The deeply affected area took 50 days to epithelialize but healed without hypertrophic scarring. A mild extension contracture was noted in the distal interphalangeal joint of the right index finger, but the skin remained supple and soft. Incidents of liquid nitrogen-induced frostbite are uncommon, with only 14 cases reported in PubMed® previously. In frostbite, the wound healing involves a slow replacement of damaged connective tissue, which acts as an internal splint, reducing wound contraction. This contrasts with burns, where rapid connective tissue replacement occurs, often leading to significant wound contraction due to the presence of myofibroblasts in granulation tissue. In the presented case, the slow healing process and minimal wound contraction led to mature scarring without abnormalities, underlining a distinctive healing trajectory in frostbite injuries compared to burns.
PubMed: 38938100
DOI: 10.1093/jbcr/irae127 -
Zhonghua Wai Ke Za Zhi [Chinese Journal... Jun 2024To examine the feasibility and clinical effect of all-inside endoscopic procedure through two portals combined with double-hemisection Achilles tendon lengthening for...
[Analysis of the effect of all-inside endoscopic procedure through two portals combined with double-hemisection Achilles tendon lengthening for Achilles tendon contracture].
To examine the feasibility and clinical effect of all-inside endoscopic procedure through two portals combined with double-hemisection Achilles tendon lengthening for Achilles tendon contracture. This is a retrospective case series study. From February 2021 to February 2023, the clinical data of 24 patients (30 feet) with Achilles tendon contracture treated with all-inside endoscopic procedure through two portals combined with double-hemisection Achilles tendon lengthening were analyzed retrospectively. There were 10 males and 14 females, aged (32.8±16.1) years (range: 9 to 62 years). There were 8 cases of left side only, 10 cases of right side only and 6 cases of bilateral. There were 14 cases (16 feet) of foot varus, 4 cases (6 feet) of foot valgus, and 6 cases (8 feet) without deformity. All patients underwent all-inside endoscopic procedure through two portals combined with double-hemisection Achilles tendon lengthening. The surgical effects were evaluated using the maximum dorsal extension angle of ankle joint in knee extension position, the visual analogue scale (VAS) of pain, the American Orthopedic Foot and Ankle Society ankle-hindfoot score(AOFAS-AH). Paired sample t test was used to compare the scores before and after operation. All patients successfully completed the operation, and the operation time of Achilles tendon lengthening was (22.0±5.7)minutes (range: 15 to 35 minutes) and the intraoperative blood loss was (6.5±2.7)ml (range: 2 to 15 ml). All patients primarily healing without any complications such as sural nerve injury, Achilles tendon rupture, important blood vessel injury, and obvious decrease of lift heel strength of achilles tendon. All 24 patients were followed up for (17.2±4.5) months (range: 12 to 28 months). One patient suffered from lift heel's weakness in one foot after operation, and recovered after repeated lift heel functional exercises. The ankle dorsiflexion function of two patients with calf triceps spasm were not improved after operation, and it was obviously improved after botulinum toxin injection. At the last follow-up, the maximum dorsal extension angle of ankle joint in knee extension position increased from -9.2°±7.6°(range:-25° to 5°) preoperatively to 14.5°±7.0°(range:0° to 28°)(=24.83, <0.01); the VAS score was reduced from (4.5±1.7) points (range:1 to 8 points) preoperatively to (1.5±0.9) points (range:0 to 3 points) (=9.53, <0.01), the AOFAS-AH was increased from (60.5±11.4)points (range:38 to 85 points) to (90.8±5.4) points (range:80-100 points)(=14.21, <0.01). All-inside endoscopic procedure through two portals combined with double-hemisection Achilles tendon lengthening for Achilles tendon contracture not only provides Achilles tendon lengthening, but also avoids complications such as Achilles tendon rupture and sural nerve injury. It is an effective method for the treatment of Achilles tendon contracture.
PubMed: 38937127
DOI: 10.3760/cma.j.cn112139-20240303-00104 -
Voprosy Kurortologii, Fizioterapii, I... 2024Thermal lesions in children leave behind cicatricial contractions, contractures, deformations of the wrists, feet, face. Sanatorium-resort treatment using balneotherapy... (Observational Study)
Observational Study
UNLABELLED
Thermal lesions in children leave behind cicatricial contractions, contractures, deformations of the wrists, feet, face. Sanatorium-resort treatment using balneotherapy is an integral part of rehabilitation measures in such patients.
OBJECTIVE
To analyze the results of hydrogen sulfide balneotherapy in children with consequences of thermal injury.
MATERIAL AND METHODS
A single-center observational retrospective non-controlled study was carried out, in which sanatorium-resort treatment concerning post-burn scars in 812 children aged 5-17 years was analyzed. Hydrogen sulfide balneotherapy was prescribed to patients depending on the age in mild (5-6 years) or moderate-to-high (7-17 years) exposure modes. The imported hydrogen sulfide mineral water from the T-2000 well of the Matsesta field with the HS total concentration of 410-420 mg/l was used for treatment. The applications were performed to children alternate days, 8 procedures of balneotherapy per course.
RESULTS
Lightening of the affected areas of the skin, reduction of the sensation of contraction and tension of the scars, which became softer, more elastic and more mobile with regard to the subjacent tissues have been noted in patients after the course of balneotherapy. The head mobility increased after applications in the presence of scars. The large joints' range of motion grew up. In addition, an increase in the mobility of the fingers of wrists and feet, a decrease in the stiffness of movements, increase or recovery of the affected skin's tactile sensitivity have been observed. Children well tolerated procedures, adverse events were seen in 0.7% of cases in the form of mild reactions at the beginning of the applications' course, namely of balneological (0.6%) and toxico-allergic (0.1%) nature.
CONCLUSION
Hydrogen sulfide balneotherapy in combination with rehabilitation exercises and other sanatorium-resort factors is an effective mean of post-burn scars correction in children.
Topics: Humans; Child; Child, Preschool; Health Resorts; Adolescent; Male; Female; Burns; Balneology; Cicatrix; Hydrogen Sulfide; Retrospective Studies
PubMed: 38934956
DOI: 10.17116/kurort202410103132 -
Genes May 2024Pathogenic variants in the gene lead to a spectrum of rare autosomal recessive phenotypes, including osteogenesis imperfecta (OI) Type XI, Bruck syndrome Type I (BS I),...
Pathogenic variants in the gene lead to a spectrum of rare autosomal recessive phenotypes, including osteogenesis imperfecta (OI) Type XI, Bruck syndrome Type I (BS I), and the congenital arthrogryposis-like phenotype (AG), each with variable clinical manifestations that are crucial for diagnosis. This study analyzed the clinical-genetic characteristics of patients with these conditions, focusing on both known and newly identified variants. We examined data from 15 patients, presenting symptoms of OI and joint contractures. Diagnostic methods included genealogical analysis, clinical assessments, radiography, whole exome sequencing, and direct automated Sanger sequencing. We diagnosed 15 patients with phenotypes due to biallelic variants-4 with OI Type XI, 10 with BS I, and 1 with the AG-like phenotype-demonstrating polymorphism in disease severity. Ten pathogenic variants were identified, including three novel ones, c.1373C>T (p.Pro458Leu), c.21del (p.Pro7fs), and c.831_832insCG (p.Gly278Argfs), and a recurrent variant, c.831dup (p.Gly278Argfs). Variant c.1490G>A (p.Trp497Ter) was found in two unrelated patients, causing OI XI in one and BS I in the other. Additionally, two unrelated patients with BS I and epidermolysis bullosa shared identical homozygous and variants. This observation illustrates the diversity of -related pathology and the importance of considering the full spectrum of phenotypes in clinical diagnostics.
Topics: Humans; Tacrolimus Binding Proteins; Male; Female; Arthrogryposis; Phenotype; Osteogenesis Imperfecta; Child; Child, Preschool; Pedigree; Exome Sequencing; Adolescent; Mutation; Infant; Adult; Nervous System Malformations
PubMed: 38927610
DOI: 10.3390/genes15060674 -
Biomedicines May 2024Spinal muscular atrophy (SMA) is an orphan disease characterized by the progressive degeneration of spinal alpha motor neurons. In recent years, nusinersen and several...
Spinal muscular atrophy (SMA) is an orphan disease characterized by the progressive degeneration of spinal alpha motor neurons. In recent years, nusinersen and several other drugs have been approved for the treatment of this disease. Transcutaneous spinal cord stimulation (tSCS) modulates spinal neuronal networks, resulting in changes in locomotion and posture in patients with severe spinal cord injury and stroke. We hypothesize that tSCS can activate motor neurons that are intact and restored by medication, slow the decline in motor activity, and contribute to the development of motor skills in SMA patients. Thirty-seven children and adults with SMA types 2 and 3 participated in this study. The median duration of drug treatment was over 20 months. The application of tSCS was performed during physical therapy for 20-40 min per day for ~12 days. Outcome measures were specific SMA motor scales, goniometry of contractured joints, and forced vital capacity. Significant increases in motor function, improved respiratory function, and decreased contracture were observed in both type 2 and 3 SMA participants. The magnitude of functional changes was not associated with participant age. Further studies are needed to elucidate the reasons for the beneficial effects of spinal cord electrical stimulation on SMA.
PubMed: 38927369
DOI: 10.3390/biomedicines12061162 -
American Journal of Medical Genetics.... Jun 2024Haploinsufficiency of FOXP1 gene is responsible for a neurodevelopmental disorder presenting with intellectual disability (ID), autism spectrum disorder (ASD),...
Haploinsufficiency of FOXP1 gene is responsible for a neurodevelopmental disorder presenting with intellectual disability (ID), autism spectrum disorder (ASD), hypotonia, mild dysmorphic features, and multiple congenital anomalies. Joint contractures are not listed as a major feature of FOXP1-related disorder. We report five unrelated individuals, each harboring likely gene disruptive de novo FOXP1 variants or whole gene microdeletion, who showed multiple joint contractures affecting at least two proximal and/or distal joints. Consistent with the phenotype of FOXP1-related disorder, all five patients showed developmental delay with moderate-to-severe speech delay, ID, ASD, and facial dysmorphic features. FOXP1 is implicated in neuronal differentiation and in organizing motor axon projections, thus providing a potential developmental basis for the joint contractures. The combination of joint contractures and neurodevelopmental disorders supports the clinical suspicion of FOXP1-related phenotype.
PubMed: 38924631
DOI: 10.1002/ajmg.a.63713