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The Spine Journal : Official Journal of... Mar 2014It is well-established that disc mechanical properties degrade with degeneration. However, prior studies utilized cadaveric tissues from donors with undefined back pain... (Comparative Study)
Comparative Study
BACKGROUND CONTEXT
It is well-established that disc mechanical properties degrade with degeneration. However, prior studies utilized cadaveric tissues from donors with undefined back pain history. Disc degeneration may present with pain at the affected motion segment, or it may be present in the absence of back pain. The mechanical properties and matrix quantity of discs removed and diagnosed for degeneration with patient chronic pain may be distinct from those with other diagnoses, such as spinal deformity.
PURPOSE
To test the hypothesis that discs from nondeformity segments have inferior mechanical properties than deformity discs owing to differences in matrix quality.
STUDY DESIGN/SETTING
In vitro study comparing the mechanical and matrix properties of discs from surgery patients with spinal nondeformity and deformity.
METHODS
We analyzed nucleus and annulus samples (8-11 specimens per group) from surgical discectomy patients as part of a fusion or disc replacement procedure. Tissues were divided into two cohorts: nondeformity and deformity. Dynamic indentation tests were used to determine energy dissipation, indentation modulus, and viscoelasticity. Tissue hydration at a physiologic pressure was assessed by equilibrium dialysis. Proteoglycan, collagen, and collagen cross-link content were quantified. Matrix structure was assessed by histology.
RESULTS
We observed that energy dissipation was significantly higher in the nondeformity nucleus than in the deformity nucleus. Equilibrium dialysis experiments showed that annulus swelling was significantly lower in the nondeformity group. Consistent with this, we observed that the nondeformity annulus had lower proteoglycan and higher collagen contents.
CONCLUSIONS
Our data suggest that discs from nondeformity discs have subtle differences in mechanical properties compared with deformity discs. These differences were partially explained by matrix biochemical composition for the annulus, but not for the nucleus. The results of this study suggest that compromised matrix quality and diminished mechanical properties are features that potentially accompany discs of patients undergoing segmental fusion or disc replacement for disc degeneration and chronic back pain. These features have previously been implicated in pain via instability or reduced motion segment stiffness.
Topics: Adult; Age Factors; Aged; Back Pain; Biomechanical Phenomena; Collagen; Congenital Abnormalities; Elasticity; Extracellular Matrix; Female; Humans; In Vitro Techniques; Intervertebral Disc; Male; Middle Aged; Pain Measurement; Proteoglycans; Radiography; Spinal Diseases; Stress, Mechanical
PubMed: 24246750
DOI: 10.1016/j.spinee.2013.06.089 -
Indian Pediatrics Apr 2005Yunis-Varon syndrome is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones along with complete or partial...
Yunis-Varon syndrome is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones along with complete or partial absence of the clavicles (cleidocranial dysplasia), characteristic facial features, and/or abnormalities of the fingers and/or toes.
Topics: Abnormalities, Multiple; Bone and Bones; Craniofacial Abnormalities; Fatal Outcome; Female; Fingers; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant, Newborn; Male; Nipples; Polyhydramnios; Pregnancy; Scrotum; Syndrome; Toes
PubMed: 15876600
DOI: No ID Found -
The Journal of Hand Surgery Oct 2020Macrodactyly is a rare, nonhereditary congenital deformity. Digital enlargement in macrodactyly involves all tissue types and presents alone or as part of a congenital...
PURPOSE
Macrodactyly is a rare, nonhereditary congenital deformity. Digital enlargement in macrodactyly involves all tissue types and presents alone or as part of a congenital deformity syndromes. Macrodactyly treatment largely depends on surgeons' experience and knowledge. Because there is a paucity of large cohort studies of macrodactyly in the literature, our goal was to retrospectively analyze macrodactyly cases in order to define a better system for diagnosis, classification, and prognosis.
METHODS
Medical records of 90 Chinese macrodactyly patients, including demographic characteristics, clinical presentations, anatomical distributions, x-rays, pathological findings, and treatments, were reviewed. Genetic analyses of 12 patients were also reviewed.
RESULTS
Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 2.6 times more frequent than single-digit involvement. The index finger, middle finger, and thumb were most commonly involved. Two digits were affected more often than 3, with the affected digits adjacent in most cases. The affected digit was in the median nerve innervation distribution in 79% of cases and was accompanied by enlargement and fat infiltration of the median nerve. Seven cases had syndactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive.
CONCLUSIONS
Macrodactyly represents a heterogeneous group of conditions, without significant sex or geographical predilection, which is usually present at birth. A high PIK3CA mutation-positive rate in affected tissues suggests a similar cellular mechanism for overgrowth in patients with various clinical presentations.
TYPE OF STUDY/LEVEL OF EVIDENCE
Prognostic IV.
Topics: Fingers; Humans; Infant, Newborn; Limb Deformities, Congenital; Retrospective Studies; Syndactyly
PubMed: 32299688
DOI: 10.1016/j.jhsa.2020.03.002 -
Thorax Sep 1969The deformity of pectus excavatum is caused by a negative pressure in the anterior mediastinum sucking in the body of the sternum. This is usually due to the heart lying...
The deformity of pectus excavatum is caused by a negative pressure in the anterior mediastinum sucking in the body of the sternum. This is usually due to the heart lying on the left side, leaving the mediastinum empty so that the sternum and costal cartilages are sucked in to fill the empty space. The operation consists of excising the deformed cartilages, mobilizing the sternum, and suturing the pericardial sac into a central position which corrects the deformity.
Topics: Adolescent; Adult; Cartilage; Child; Funnel Chest; Heart Defects, Congenital; Humans; Male; Mediastinum; Pericardium; Pressure; Sternum
PubMed: 5348322
DOI: 10.1136/thx.24.5.557 -
Annals of Medicine 2007Congenital diaphragmatic hernia (CDH) is a severe birth defect that is accompanied by malformations of the lung, heart, testis, and other organs. Patients with CDH may... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a severe birth defect that is accompanied by malformations of the lung, heart, testis, and other organs. Patients with CDH may have any combination of these extradiaphragmatic defects, suggesting that CDH is often a manifestation of a global embryopathy. This review highlights recent advances in human and mouse genetics that have led to the identification of genes involved in CDH. These include genes for transcription factors, molecules involved in cell migration, and extracellular matrix components. The expression patterns of these genes in the developing embryo suggest that mesenchymal cell function is compromised in the diaphragm and other affected organs in patients with CDH. We discuss potential mechanisms underlying the seemingly random combination of diaphragmatic, pulmonary, cardiovascular, and gonadal defects in these patients.
Topics: Animals; Congenital Abnormalities; Diaphragm; Hernia, Diaphragmatic; Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Mice; Mutation; Transcription Factors
PubMed: 17558598
DOI: 10.1080/07853890701326883 -
Journal of Perinatal Medicine Nov 2018
Topics: Aneuploidy; Congenital Abnormalities; Female; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 30422803
DOI: 10.1515/jpm-2018-0333 -
Survey of Ophthalmology 1990Congenital craniofacial abnormalities frequently require ophthalmic evaluation and surgical management. Called upon to perform as part of the craniofacial team managing... (Review)
Review
Congenital craniofacial abnormalities frequently require ophthalmic evaluation and surgical management. Called upon to perform as part of the craniofacial team managing the often severely deformed craniofacial patient, the ophthalmologist must bring a basic knowledge of craniofacial syndromes and developmental anatomy, as well as clinical acumen to help preserve or improve ocular and adnexal function. As an introduction to this area of ophthalmology, the clinical features, classification, appropriate facial embryology, assessment and surgical considerations of the various congenital craniofacial abnormalities are reviewed. The expanding availability of craniofacial surgeons and surgical teams along with improved surgical results will ultimately require an increasing involvement by many more ophthalmologists in the evaluation and management of these congenital abnormalities.
Topics: Craniofacial Dysostosis; Craniosynostoses; Eye Abnormalities; Facial Bones; Humans; Orbit; Skull; Syndrome
PubMed: 2237761
DOI: 10.1016/0039-6257(90)90067-6 -
Scientific Reports Apr 2022Existed classifications of congenital proximal radioulnar synostosis (PRUS) mainly focus on osseous changes and do not cover all types of congenital PRUS, ignoring the...
Existed classifications of congenital proximal radioulnar synostosis (PRUS) mainly focus on osseous changes and do not cover all types of congenital PRUS, ignoring the role and developing status of the supinator. This study aims to explore the correlation between supinator development and radiographic deformity of congenital PRUS. Pediatric patients diagnosed with congenital PRUS in two pediatric Orthopedic centers were evaluated retrospectively. MRI and radiographic images of their bilateral forearms (including normal ones) were collected. The area of supinator, extensor carpi radialis longus (ECRL), extensor carpi radialis brevis (ECRB), brachioradialis (BRAR) muscle and extensor indicis (EI) muscle were measured on each forearm. The ratios of these muscles were calculated and regarded as an indicator of the developing status of supinator muscle. Twenty-seven congenital PRUS forearms of 16 patients (average 3.45 years) were included. A new MRI & X-ray classification system was proposed to cover all types of radiographic deformity and provide a comprehensive description of supinator development. This study revealed the relation between MRI measured supinator volume and radiographic deformity of congenital PRUS. Supinator muscles were observed in all congenital PRUS cases. A novel classification was proposed, providing a more comprehensive understanding of congenital PRUS.
Topics: Abnormalities, Multiple; Child; Foot Deformities, Congenital; Forearm; Hand Deformities, Congenital; Humans; Magnetic Resonance Imaging; Muscle, Skeletal; Radiography; Radius; Retrospective Studies; Syndactyly; Synostosis; Ulna
PubMed: 35449142
DOI: 10.1038/s41598-022-09411-6 -
The Laryngoscope Mar 2019We developed and validated a septal deformity grading (SDG) system that accounts for anatomic location and grading of deformity severity.
OBJECTIVES/HYPOTHESIS
We developed and validated a septal deformity grading (SDG) system that accounts for anatomic location and grading of deformity severity.
STUDY DESIGN
Retrospective cohort study.
METHODS
Subjects were patients with nasal obstruction presenting to University of California, Irvine Medical Center. Subjects were given pre- and postoperative Nasal Obstruction Symptom Evaluation (NOSE) questionnaires and were evaluated by a facial plastic surgeon using our septal deformity grading (SDG) system. Validity and reliability analyses were conducted on the SDG results. Statistical analyses were conducted on SDG and NOSE data to assess and compare instruments, and to validate the SDG instrument using the NOSE instrument.
RESULTS
One hundred thirty-five patients met inclusion criteria. Cronbach's α was ≥ 0.7 for SDG and pre- and postoperative NOSE scores. There was a significant difference in pre- and postoperative NOSE scores (Z score = -7.21, P < .001). Correlations between postoperative NOSE and SDG scores were significant (P = .014), and convergent construct validity was achieved. There was a significant difference in SDG scores between primary versus revision operations (P < .001), history versus no history of nasal trauma, and nasal/septal surgery (P = .025, P = .003, respectively). The odds of having a revision operation were 2.3 times higher for high SDG scores (P < .001), of having a history of nasal trauma were 1.33 times higher for high SDG scores (P = .014), and of having a history of nasal/septal surgery were 2.9 times higher for low SDG scores.
CONCLUSIONS
Our SDG system addresses the challenge of providing objective anatomic information on the severity of nasal septal deformities, and may be valuable when used in conjunction with subjective data gathered from the NOSE questionnaire.
LEVEL OF EVIDENCE
4 Laryngoscope, 129:586-593, 2019.
Topics: Adolescent; Adult; Aged; Cohort Studies; Congenital Abnormalities; Female; Humans; Male; Middle Aged; Nasal Obstruction; Nasal Septum; Retrospective Studies; Severity of Illness Index; Symptom Assessment; Young Adult
PubMed: 30467854
DOI: 10.1002/lary.27365 -
Developmental Dynamics : An Official... Nov 2015We introduce a new subfield of the recently created field of Evolutionary-Developmental-Anthropology (Evo-Devo-Anth):... (Review)
Review
Evolutionary developmental pathology and anthropology: A new field linking development, comparative anatomy, human evolution, morphological variations and defects, and medicine.
We introduce a new subfield of the recently created field of Evolutionary-Developmental-Anthropology (Evo-Devo-Anth): Evolutionary-Developmental-Pathology-and-Anthropology (Evo-Devo-P'Anth). This subfield combines experimental and developmental studies of nonhuman model organisms, biological anthropology, chordate comparative anatomy and evolution, and the study of normal and pathological human development. Instead of focusing on other organisms to try to better understand human development, evolution, anatomy, and pathology, it places humans as the central case study, i.e., as truly model organism themselves. We summarize the results of our recent Evo-Devo-P'Anth studies and discuss long-standing questions in each of the broader biological fields combined in this subfield, paying special attention to the links between: (1) Human anomalies and variations, nonpentadactyly, homeotic transformations, and "nearest neighbor" vs. "find and seek" muscle-skeleton associations in limb+facial muscles vs. other head muscles; (2) Developmental constraints, the notion of "phylotypic stage," internalism vs. externalism, and the "logic of monsters" vs. "lack of homeostasis" views about human birth defects; (3) Human evolution, reversions, atavisms, paedomorphosis, and peromorphosis; (4) Scala naturae, Haeckelian recapitulation, von Baer's laws, and parallelism between phylogeny and development, here formally defined as "Phylo-Devo parallelism"; and (5) Patau, Edwards, and Down syndrome (trisomies 13, 18, 21), atavisms, apoptosis, heart malformations, and medical implications.
Topics: Anatomy; Anatomy, Comparative; Animals; Anthropology; Biological Evolution; Chromosomes, Human, Pair 18; Congenital Abnormalities; Developmental Biology; Down Syndrome; Foot Deformities, Congenital; Hand Deformities, Congenital; Heart Defects, Congenital; Homeostasis; Humans; Karyotyping; Pathology; Phylogeny; Trisomy; Trisomy 18 Syndrome
PubMed: 26293597
DOI: 10.1002/dvdy.24336