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Journal of Pediatric Orthopedics Apr 2023Congenital synostosis of the knee is a rare condition with limited data on treatment options and outcomes. This study reports clinical findings, treatment approach, and...
BACKGROUND
Congenital synostosis of the knee is a rare condition with limited data on treatment options and outcomes. This study reports clinical findings, treatment approach, and surgical/clinical outcomes for congenital synostosis of the knee.
METHODS
An institutional review board-approved retrospective review of patients with congenital synostosis of the knee presenting to 2 institutions between 1997 and 2021 was performed.
RESULTS
Eight patients (13 knees) with a median follow-up of 11.3 years (3.3 to 17 y) were included. Seven patients had associated syndromes. Patients presented with an average knee flexion deformity of 100° (range 60 to 130°) and delayed walking ability. Seven patients had associated upper extremity hypoplasia/phocomelia. The average age at the index surgery was 4.3 years (range 1.2 to 9.2 y). Synostosis resection with gradual deformity correction was performed in most patients. An attempt was made at a mobile knee in some patients, but all went on to knee fusion. Mean flexion deformity at final follow-up was 11.6° (range: 0 to 40°) and 5 limbs were fused in full extension. Mean limb length discrepancy at final follow-up was 6.8 cm (range: 0 to 8 cm). All patients maintained their improved ambulation status at final follow-up. Twenty-two complications were identified.
CONCLUSIONS
Reliable correction of the deformity associated with congenital knee synostosis was achieved at a median follow-up of 11 years. Importantly, all patients maintained their improved ambulation at final follow-up. This is the largest study on patients with congenital knee synostosis and outlines a reconstructive approach to improve ambulatory status.
LEVEL OF EVIDENCE
Level IV.
Topics: Humans; Infant; Child, Preschool; Child; Osteotomy; Lower Extremity; Knee Joint; Synostosis; Arthrodesis; Retrospective Studies; Contracture; Treatment Outcome
PubMed: 36791408
DOI: 10.1097/BPO.0000000000002356 -
JPRAS Open Sep 2023We present a case describing a technique for the surgical management and aesthetico-functional reconstruction of a shoulder in an adult with unilateral upper limb...
We present a case describing a technique for the surgical management and aesthetico-functional reconstruction of a shoulder in an adult with unilateral upper limb phocomelia (ULP). A 25 year old male patient was presented to our clinic with upper left limb non-syndromic phocomelia. His main concerns was an aesthetically unpleasant limb and shoulder shape. Few older publications describe available options for pediatric patients, such as clavicle transposition or limb amputation, but nowadays ULP treatment options focus on prosthetic rehabilitation (PR) and targeted muscle reinnervation (TMR). Our patient refused any prosthesis, and TMR is expensive, requires an experienced rehabilitation team and has limited availability. We aim to describe a non-expensive, simple and effective option for selected adult patients with limited shoulder functionality wishes. We used the existent hypoplastic limb for shoulder mound reconstruction, providing the patient with a more anatomical shoulder shape. The palmar skin of the hypoplastic hand and three existing fingers were excised. Also, distal phalanges were amputated. Then, the hand was rotated and positioned under the coracoid process, creating a shoulder-like mound. there has been a loss of shoulder volume compared to early postoperative weeks, but the patient is satisfied with the results. Nevertheless, we found some limitations to our approach such as long-lasting postoperative pain, sensory symptomatology, and loss of volume of the reconstructed shoulder. Those could be solved with the complete denervation of the limb and a Latissimus Dorsi (LD) transposition flap in a second stage of reconstructive surgery.
PubMed: 37560485
DOI: 10.1016/j.jpra.2023.06.006 -
International Journal of Environmental... Apr 2021This study investigates the acceptability, bioethical justification, and determinants of the provision of intensive care to extremely preterm or ill neonates among...
BACKGROUND
This study investigates the acceptability, bioethical justification, and determinants of the provision of intensive care to extremely preterm or ill neonates among healthcare professionals serving in NICUs in Greek hospitals.
METHODS
Healthcare professionals (71 physicians, 98 midwives, and 82 nurses) employed full-time at all public Neonatal Intensive Care Units (NICUs) ( = 17) in Greece were asked to report their potential behavior in three clinical scenarios.
RESULTS
The majority of healthcare professionals would start and continue intensive care to (a) an extremely preterm neonate, (b) a full-term neonate with an unfavorable prognosis, and (c) a neonate with complete phocomelia. In cases (a) and (b), midwives and nurses compared to physicians ( = 0.009 and = 0.004 in scenarios (a) and (b), respectively) and health professionals ascribing to the quality-of-life principle compared to those ascribing to the intrinsic value of life ( = 0.001 and = 0.01 scenarios (a) and (b) respectively), tend towards withholding or withdrawing care. Religion plays an important role in all three scenarios ( = 0.005, = 0.017 and = 0.043, respectively).
CONCLUSIONS
Understanding healthcare professionals' therapeutic intensiveness in the face of NICU ethical dilemmas can improve NICU policies, support strategies, and, consequently, the quality of neonatal intensive care.
Topics: Attitude of Health Personnel; Decision Making; Female; Greece; Humans; Infant, Newborn; Intensive Care Units, Neonatal; Midwifery; Physicians; Pregnancy
PubMed: 33918554
DOI: 10.3390/ijerph18083938 -
Acta Orthopaedica Belgica Sep 2020The purpose of this survey in Belgium and the Netherlands was to assess treatment variation in glenohumeral osteoarthritis between experienced and less experienced... (Review)
Review
The purpose of this survey in Belgium and the Netherlands was to assess treatment variation in glenohumeral osteoarthritis between experienced and less experienced orthopedic surgeons, and to investigate perioperative treatment after shoulder arthroplasty in a large group of orthopedic surgeons. Orthopedic surgeons specialized in shoulder surgery were invited to complete a survey between November 2013 and February 2015. Seventy-one percent of the approached surgeons com-pleted the survey. Less experienced surgeons (< 6 years) and surgeons from the Netherlands find patient characteristics (e.g. smoking p=0.01) more relevant than more experienced surgeons (≥ 6 years) and surgeons from Belgium. Less experienced surgeons will less likely (p=0.001) perform resurfacing arthroplasty compare to experienced surgeons. The less and the experienced surgeons use similar indications for a reverse shoulder arthroplasty regarding age limit and cuff arthropathy without osteoarthritis. Less experienced surgeon will more likely (p=0.003) prescribe a low molecular weight heparin during the hospital stay after a shoulder arthroplasty. In this survey, we found a decrease in the use of resurfacing arthroplasty and a strong increase in the use of reverse shoulder arthroplasty. Besides, there is little consensus concerning pre-operative planning, patient characteristics, surgical technique, and patient reported outcome measures. Level of evidence: IV.
Topics: Child; Ectromelia; Female; Fibula; Humans; Imaging, Three-Dimensional; Plastic Surgery Procedures; Surgery, Computer-Assisted; Tomography, X-Ray Computed
PubMed: 33581021
DOI: No ID Found -
European Journal of Medical Genetics Dec 2019Roberts/SC phocomelia syndrome (RBS/SC) is a rare autosomal recessive inherited condition characterized by prenatal-onset growth retardation, craniofacial anomalies, and...
Roberts/SC phocomelia syndrome (RBS/SC) is a rare autosomal recessive inherited condition characterized by prenatal-onset growth retardation, craniofacial anomalies, and symmetrical limb reduction defects. Here, we present two affected siblings with RBS/SC who have consanguineous parents. Both patients had intrauterine growth retardation; similar facial findings, including arched eyebrows, epicanthic folds, posteriorly angulated ears, and retrognathia; and hypopigmented patches on their skin. However, despite these common findings, the extremity involvement was different between the patients. The more severely affected boy had hypoplasia of the tibia and symmetrical agenesis of the radius, ulna, proximal carpal bones, and fibula. The slightly affected girl presented with mild symmetrical mesomelic shortening. The cytogenetic analysis showed aneuploidies at varying rates concerning different chromosomes in the analyses of different culture materials. As a remarkable finding in the cytogenetic studies, chromosome analysis of fibroblast cultures obtained from the hypopigmented skin region showed a much higher frequency of aneuploidy, especially trisomy 7, than normopigmented skin fibroblasts and lymphocyte cultures for both patients, which was also proven ex vivo by qPCR analyses from uncultured skin tissues. In the subsequent ESCO2 gene sequence analysis, both patients were found to be homozygous for the mutation c.1111dupA (p.Thr371Asnfs*32; NM_001017420.2), which is known to be pathogenic. In the literature search, only two RBS/SC patient reports with hypopigmented skin patches could be found. In addition, the presence of pigmentation defects in the embryo was reported in some different animal models for RBS/SC. When the literature review and study are evaluated together, hypopigmented patches can be considered as a rare finding for RBS/SC. It can be suggested that somatic aneuploidies seen in the natural course of the disease, especially aneuploidy of chromosome 7, which has many genes associated with pigmentation, may be responsible for the hypopigmentation patches.
Topics: Acetyltransferases; Adolescent; Aneuploidy; Child; Chromosomal Proteins, Non-Histone; Craniofacial Abnormalities; Ectromelia; Female; Humans; Hypertelorism; Male; Mutation; Skin; Skin Pigmentation
PubMed: 30590172
DOI: 10.1016/j.ejmg.2018.12.013 -
BMJ Case Reports Nov 2019Sirenomelia, also known as mermaid syndrome, is an extremely rare congenital disorder involving the lower spine and lower limbs. We present a case of a grand multiparous...
Sirenomelia, also known as mermaid syndrome, is an extremely rare congenital disorder involving the lower spine and lower limbs. We present a case of a grand multiparous with poorly controlled gestational diabetes who delivered a live baby weighing 2.43 kg at 38 weeks' gestation. The baby was noted to have significant respiratory distress, and resuscitation was promptly commenced. Severe congenital abnormalities indicative of sirenomelia were obvious and after availability of antenatal records which indicated an extremely poor prognosis, resuscitative efforts were aborted. The baby was handed over to the mother for comfort care and died 18 min postdelivery.
Topics: Abnormalities, Multiple; Ectromelia; Fatal Outcome; Humans; Infant, Newborn; Male; Rare Diseases
PubMed: 31767602
DOI: 10.1136/bcr-2019-229970 -
The Journal of Hand Surgery, European... Mar 2024We herein report on the application of a novel motorized prosthetic hand in a child with upper extremity phocomelia.
We herein report on the application of a novel motorized prosthetic hand in a child with upper extremity phocomelia.
Topics: Child; Humans; Ectromelia; Upper Extremity; Artificial Limbs; Upper Extremity Deformities, Congenital; Hand; Prosthesis Design
PubMed: 37882659
DOI: 10.1177/17531934231209645 -
Scientific Reports Aug 2019Thalidomide is widely used for several diseases; however, it causes malformations in embryos exposed during pregnancy. The complete understanding of the mechanisms by...
Thalidomide is widely used for several diseases; however, it causes malformations in embryos exposed during pregnancy. The complete understanding of the mechanisms by which thalidomide affects the embryo development has not yet been obtained. The phenotypic similarity makes TE a phenocopy of syndromes caused by mutations in ESCO2, SALL4 and TBX5 genes. Recently, SALL4 and TBX5 were demonstrated to be thalidomide targets. To understand if these genes act in the TE development, we sequenced them in 27 individuals with TE; we verified how thalidomide affect them in human pluripotent stem cells (hPSCs) through a differential gene expression (DGE) analysis from GSE63935; and we evaluated how these genes are functionally related through an interaction network analysis. We identified 8 variants in ESCO2, 15 in SALL4 and 15 in TBX5. We compared allelic frequencies with data from ExAC, 1000 Genomes and ABraOM databases; eight variants were significantly different (p < 0.05). Eleven variants in SALL4 and TBX5 were previously associated with cardiac diseases or malformations; however, in TE sample there was no association. Variant effect prediction tools showed 97% of the variants with potential to influence in these genes regulation. DGE analysis showed a significant reduction of ESCO2 in hPSCs after thalidomide exposure.
Topics: Abnormalities, Multiple; Acetyltransferases; Brazil; Cell Line; Chromosomal Proteins, Non-Histone; Craniofacial Abnormalities; Datasets as Topic; Duane Retraction Syndrome; Ectromelia; Female; Gene Expression Profiling; Gene Frequency; Genetic Predisposition to Disease; Heart Defects, Congenital; Heart Septal Defects, Atrial; Humans; Hypertelorism; Leprosy; Lower Extremity Deformities, Congenital; Male; Mutation; Pluripotent Stem Cells; Polymorphism, Single Nucleotide; Pregnancy; Pregnancy Complications; Protein Interaction Maps; T-Box Domain Proteins; Teratogenesis; Thalidomide; Transcription Factors; Upper Extremity Deformities, Congenital
PubMed: 31388035
DOI: 10.1038/s41598-019-47739-8 -
Ecotoxicology and Environmental Safety Aug 2019Morphological abnormalities in amphibians may be attributed to contaminants, ultraviolet radiation and trematode parasites, or a synergistic effect between them. In the...
Morphological abnormalities in amphibians may be attributed to contaminants, ultraviolet radiation and trematode parasites, or a synergistic effect between them. In the present study, morphological abnormalities in Rhinella arenarum adults from natural and artificial fluoride-rich environments were identified and evaluated. Three sites were sampled in central Argentina: Los Vallecitos stream (LF-LV), Los Cerros Negros stream (MF-CN), and Decantation ponds (HF-DP), with low (0.33 mg/L), middle (2.03 mg/L) and high (14.0 mg/L) fluoride levels respectively; the latter site is associated with a fluoride mine. Abnormal individuals were photographed and then standard radiographs were taken. Abnormality frequencies and relative percentage of abnormal individuals were calculated for each site. In addition, skeletochronology was used to estimate toad's age. Five abnormality types were identified: syndactyly, ectrodactyly, polydactyly, microphthalmia and ectromelia. Percentages of abnormal individuals per site were: LF-LV = 4%, MF-CN = 21.2% and HF-DP = 6.4%. The MF-CN and HF-DP populations had morphological abnormality frequencies that exceeded the reference value (5%) reported in the literature. The average age did not differ between sites. The results of this study indicate that there is an association between frequency of morphological abnormalities and high fluoride levels.
Topics: Animals; Argentina; Bufonidae; Environmental Pollutants; Female; Fluorides; Ponds; Rivers; Ultraviolet Rays
PubMed: 30959310
DOI: 10.1016/j.ecoenv.2019.03.098 -
Neural Plasticity 2021Precise control of movement and timing play a key role in musical performance. This motor skill requires coordination across multiple joints, muscles, and limbs, which...
Precise control of movement and timing play a key role in musical performance. This motor skill requires coordination across multiple joints, muscles, and limbs, which is acquired through extensive musical training from childhood on. Thus, making music can be a strong driver for neuroplasticity. We here present the rare case of a professional french horn player with a congenital bilateral amelia of the upper limbs. We were able to show a unique cerebral and cerebellar somatotopic representation of his toe and feet, that do not follow the characteristic patterns of contralateral cortical and ipsilateral cerebellar layout. Although being a professional horn player who trained his embouchure muscles, including tongue, pharyngeal, and facial muscle usage excessively, there were no obvious signs for an expanded somatosensory representation in this part of the classic homunculus. Compared to the literature and in contrast to control subjects, the musicians' foot movement-related activations occurred in cerebellar areas that are typically more related to hand than to foot activation.
Topics: Adolescent; Brain; Brain Mapping; Ectromelia; Humans; Male; Motor Skills; Movement; Neuronal Plasticity
PubMed: 34373687
DOI: 10.1155/2021/4570135