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1.
BMC Musculoskelet Disord ; 24(1): 427, 2023 May 27.
Artículo en Inglés | MEDLINE | ID: mdl-37245034

RESUMEN

OBJECTIVE: Nano-hydroxyapatite and its composites(nHA) have been widely used as grafts in inter-vertebral fusion. However, the safety and efficacy of the graft in inter-vertebral fusion is controversial. This meta-analysis aimed at evaluating the safety and efficacy of nHA and non-hydroxyapatite grafts (noHA) (autologous bone, etc.) in inter-body fusion. MATERIALS AND METHODS: A comprehensive search was performed in electronic database as follows: PubMed, EMBASE, the Cochrane Library, Web of Science, and China National Knowledge Internet (CNKI) from inception until October 2022. Clinical studies on the effect of nHA and noHA in spinal fusion were collected. Analysis of outcome indicators using RevMan 5.4 statistical software. RESULTS: The meta-analysis showed that the operation time of patients who underwent inter-body fusion with nHA grafts was less than that of patients who underwent noHA (p < 0.05). Compared with the noHA group, the nHA group can achieve similar clinical effects in the fusion rate(OR = 1.29,95%CI: 0.88 to 1.88,p = 0.19),Subsidence rate(OR = 1.2,95%CI:0.44 to 3.28,p = 0.72), inter-vertebral space height(SMD = 0.04,95%CI:-0.08 to 0.15,p = 0.54),Cobb angle(SMD = 0.21,95%CI: 0.18 to 0.6,p = 0.21),Blood loss(SMD = -36.58,95%CI: -81.45 to 8.29,p = 0.11),operative time in 12 months(SMD = -5.82,95%CI: -9.98 to -1.67,p = 0.006) and in the final follow-up(SMD = -0.38,95%CI: -0.51 to -0.26,p < 0.00001),ODI(SMD = 0.68,95%CI: -0.84 to 2.19,p = 0.38), VAS(SMD = 0.17,95%CI: -0.13 to 0.48,p = 0.27) and adverse events(OR = 0.98,95%CI: 0.66 to 1.45,p = 0.92), and the differences are not statistically significant. CONCLUSION: This meta-analysis suggests that nHA matrix grafts are similar to noHA grafts in the safety and efficacy of spinal reconstruction, and are an ideal material for inter-vertebral bone grafting.


Asunto(s)
Fusión Vertebral , Humanos , Resultado del Tratamiento , Durapatita , Columna Vertebral , Trasplante Óseo
2.
BMC Oral Health ; 23(1): 877, 2023 11 17.
Artículo en Inglés | MEDLINE | ID: mdl-37978489

RESUMEN

INTRODUCTION: Despite researchers' recent interest in identifying links between some dental and craniovertebral abnormalities, there are many important, unassessed gaps in our knowledge of this matter. In addition, previous samples were small. This large study aimed to examine, for the first time, the occurrence/severity of numerous dental and skeletal anomalies or variations and their correlations with each other and with growth patterns. METHODS: This epidemiological study was conducted on pretreatment radiographs of 1194 patients from 3 cities (815 females). Skeletal sagittal skeletal relationships and vertical growth patterns were determined. The occurrence/severity were assessed for: cervical vertebral fusion (CVF), atlas posterior arch deficiency (APAD), ponticulus posticus (PP), sella turcica bridging (STB), hypodontia, oligodontia, hyperdontia, missing of maxillary laterals, microdontia, macrodontia, root dilaceration, odontoma, taurodontism, dental fusion, dental gemination, enamel pearl, permanent molar ankylosis, primary molar ankylosis, dens in dente, dens invaginatus, dental impaction, ectopic eruption, and dental transposition. Incidental findings were recorded as well. Concurrent anomalies, sex dimorphism, and correlations across variables were examined statistically, adjusting for the false discovery rate (α = 0.05). RESULTS: Prevalence was calculated for 43 dentoskeletal traits/anomalies (22 abnormalities/variations [plus their severities/types] as well as 21 incidentally found traits/anomalies). Dental impaction may be more common in hyperdivergent and severer cases of sella bridging; also, primary molar ankylosis was associated with missing teeth. Dental impaction was associated only with STB and not with PP, APAD, or vertebral fusion. The only association observed among the four skeletal anomalies was seen between APAD and CVF. Merely the variables 'sagittal skeletal relationships, vertical growth patterns, PP, and APAD' showed sexual dimorphism; of these, only vertical growth pattern and APAD remained sexually dimorphic after adjusting for the FDR; still, the other two remained marginally significant and worth further evaluations. Sex dimorphism did not exist in concurrent abnormalities. The skeletal Class III was associated with the concurrent occurrence of craniovertebral, dental, and dentoskeletal abnormalities. Skeletal Class I was associated with fewer occurrences of concurrent dental anomalies. Vertical growth patterns were not associated with concurrent dental or dentoskeletal anomalies. However, the hyperdivergent pattern was associated with fewer cases of concurrent craniovertebral abnormalities. CONCLUSIONS: STB and hyperdivergent pattern were associated with dental impaction. However, APAD, CVF, or PP were not associated with dental impaction. APAD was associated with CVF. Sexual dimorphism existed conclusively in the case of vertical growth patterns and APAD. Concurrent abnormalities (dental, skeletal, and dentoskeletal) were associated with skeletal Class III.


Asunto(s)
Anquilosis , Anodoncia , Anomalías Dentarias , Anquilosis del Diente , Diente Impactado , Diente Supernumerario , Femenino , Humanos , Diente Impactado/epidemiología , Anomalías Dentarias/diagnóstico por imagen , Anomalías Dentarias/epidemiología , Anodoncia/epidemiología , Diente Supernumerario/epidemiología , Estudios Epidemiológicos
3.
Am J Med Genet A ; 182(7): 1664-1672, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32369272

RESUMEN

Vertebral malformations (VMs) are caused by alterations in somitogenesis and may occur in association with other congenital anomalies. The genetic etiology of most VMs remains unknown and their identification may facilitate the development of novel therapeutic and prevention strategies. Exome sequencing was performed on both the discovery cohort of nine unrelated probands from the USA with VMs and the replication cohort from China (Deciphering Disorders Involving Scoliosis & COmorbidities study). The discovery cohort was analyzed using the PhenoDB analysis tool. Heterozygous and homozygous, rare and functional variants were selected and evaluated for their ClinVar, HGMD, OMIM, GWAS, mouse model phenotypes, and other annotations to identify the best candidates. Genes with candidate variants in three or more probands were selected. The replication cohort was analyzed by another in-house developed pipeline. We identified rare heterozygous variants in KIAA1217 in four out of nine probands in the discovery cohort and in five out of 35 probands in the replication cohort. Collectively, we identified 11 KIAA1217 rare variants in 10 probands, three of which have not been described in gnomAD and one of which is a nonsense variant. We propose that genetic variations of KIAA1217 may contribute to the etiology of VMs.


Asunto(s)
Proteínas/genética , Enfermedades de la Columna Vertebral/genética , Adolescente , Vértebras Cervicales/anomalías , Niño , Codón sin Sentido , Bases de Datos Genéticas , Femenino , Heterocigoto , Homocigoto , Humanos , Masculino , Enfermedades de la Columna Vertebral/etiología , Vértebras Torácicas/anomalías
4.
Am J Med Genet A ; 182(12): 2877-2886, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33043602

RESUMEN

Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant condition caused by heterozygous loss of function variants in the KMT2A (MLL) gene, encoding a lysine N-methyltransferase that mediates a histone methylation pattern specific for epigenetic transcriptional activation. WDSTS is characterized by a distinctive facial phenotype, hypertrichosis, short stature, developmental delay, intellectual disability, congenital malformations, and skeletal anomalies. Recently, a few patients have been reported having abnormal skeletal development of the cervical spine. Here we describe 11 such individuals, all with KMT2A de novo loss-of-function variants: 10 showed craniovertebral junction anomalies, while an 11th patient had a cervical abnormality in C7. By evaluating clinical and diagnostic imaging data we characterized these anomalies, which consist primarily of fused cervical vertebrae, C1 and C2 abnormalities, small foramen magnum and Chiari malformation type I. Craniovertebral anomalies in WDSTS patients have been largely disregarded so far, but the increasing number of reports suggests that they may be an intrinsic feature of this syndrome. Specific investigation strategies should be considered for early identification and prevention of craniovertebral junction complications in WDSTS patients.


Asunto(s)
Anomalías Múltiples/patología , Vértebras Cervicales/patología , Contractura/patología , Trastornos del Crecimiento/patología , N-Metiltransferasa de Histona-Lisina/genética , Discapacidad Intelectual/patología , Microcefalia/patología , Mutación , Proteína de la Leucemia Mieloide-Linfoide/genética , Anomalías Múltiples/genética , Adolescente , Adulto , Vértebras Cervicales/metabolismo , Niño , Preescolar , Contractura/genética , Facies , Femenino , Trastornos del Crecimiento/genética , Humanos , Discapacidad Intelectual/genética , Masculino , Microcefalia/genética , Fenotipo , Síndrome , Adulto Joven
5.
Cleft Palate Craniofac J ; 56(6): 751-758, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-30384778

RESUMEN

OBJECTIVE: To examine and compare the prevalence of morphologic anomalies of the upper cervical vertebrae in Swedish children with nonsyndromic cleft lip and/or palate to Swedish children without cleft. DESIGN: Retrospective study on lateral cephalograms. SETTING: Division of Orthodontics, Department of Dental Medicine, Karolinska Institutet, Stockholm, Sweden. PATIENTS: The cleft group consisted of 325 children (150 girls and 175 boys) born with nonsyndromic cleft lip and/or palate (mean age: 11.1 years). The control group consisted of 325 children without cleft, matched for age and gender. MAIN OUTCOME MEASURES: Lateral cephalograms exposing upper cervical vertebrae (C1-C3) were examined regarding morphologic anomalies such as posterior arch deficiencies, fusion of vertebrae, odontoid anomalies, and deviations of the vertebral artery canal. RESULTS: The prevalence of children with morphologic anomalies of the upper cervical vertebrae was 24.3% (n = 79) in children with cleft and 12.6% (n = 41) in children without cleft. Posterior arch deficiency and vertebral fusion were significantly more frequent in children with cleft (P < .001). No statistically significant differences were found between the 2 groups regarding odontoid and vertebral artery canal anomalies. CONCLUSIONS: Morphologic anomalies of the upper cervical vertebrae in Swedish children with nonsyndromic cleft lip and/or palate were significantly more frequent compared to similar anomalies in Swedish children without cleft.


Asunto(s)
Labio Leporino , Fisura del Paladar , Anquilosis del Diente , Vértebras Cervicales , Niño , Femenino , Humanos , Masculino , Estudios Retrospectivos , Suecia
6.
Eur Spine J ; 25(3): 919-27, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26582167

RESUMEN

PURPOSE: Our purpose was to analyse the presentation, management and clinical outcome of patients treated operatively and non-operatively for Copenhagen Disease (CD). METHODS: We performed a retrospective analysis of 10 patients (n = 10) with CD, with a mean follow-up time of 14.7 years. Seven patients underwent non-operative treatment and three patients were treated operatively. Clinical presentation and radiological findings were analysed. Health-related quality of life (HRQOL) outcome measures utilized included Oswestry Disability Index (ODI), Short Form 12 Health Survey (SF-12) and visual analogue scale (VAS). RESULTS: Patients tended to present with back pain. No significant difference was detected in functional scores at time of diagnosis and when compared to last follow-up. ODI improved from 20.0 to 18.4 (p = 0.839), PCS component of SF-12 from 44.5 to 45.9 (p = 0.719), MCS component of SF-12 from 45.7 to 46.9 (p = 0.840) and VAS score remained at 2.8 (p = 1.000). There was no significant difference in functional scores when comparing operative and non-operative treatment groups. CONCLUSION: CD is likely to remain stable with time or slightly improve after treatment according to functional outcomes tests. Progression of the kyphosis can be halted at different degrees with operative and non-operative treatments although it does not correlate with changes in symptomatology.


Asunto(s)
Dolor de Espalda/etiología , Cifosis/terapia , Anomalías Múltiples , Adolescente , Niño , Preescolar , Evaluación de la Discapacidad , Femenino , Estudios de Seguimiento , Humanos , Lactante , Cifosis/diagnóstico por imagen , Masculino , Calidad de Vida , Radiografía , Estudios Retrospectivos , Fusión Vertebral , Escala Visual Analógica
7.
Curr Ther Res Clin Exp ; 77: 35-9, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25737745

RESUMEN

OBJECTIVE: The high risk of nonunion represents a challenge in vertebral surgery, thus stimulating new strategies to improve fusion rates. We investigated the effect of 2 different bone grafts and amniotic fluid application on radiologically and histologically evaluated vertebral fusion in an experimental rat model. MATERIALS AND METHODS: Forty-eight 24-week-old Sprague Dawley rats were included and assigned into 1 of 4 groups: allograft group, allograft plus human amniotic fluid group, demineralized bone matrix (DBM) group, or DBM plus human amniotic fluid group. After decortication and L4-L6 spinal fusion, study treatments were applied. Fusion in each rat was examined radiologically and histologically 8 weeks after the intervention. RESULTS: The group that received only allograft had better radiologic scores (median = 3.5; range = 3-4) when compared with the group that received only DBM (median = 2; range = 1-4) (P = 0.002); however, histologic scores did not differ. When amniotic fluid was added to the grafting, allograft-based treatments performed better than DBM-based treatments both on radiologic (median = 4; range = 3-4 vs median = 3; range = 3-4; P = 0.003) and histologic (median = 7; range = 6-7 vs median = 5; range = 3-6; P < 0.001) evaluation. Addition of amniotic fluid did not result in better outcomes in the rats that received DBM-based treatments but based on histologic evaluation, rats that received allograft-based treatments benefited from this application. CONCLUSIONS: Amniotic fluid seems to have an enhancing effect on posterior spinal fusion, particularly when combined with allograft.

8.
Cureus ; 16(6): e63140, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-39055464

RESUMEN

Thoracic spine fracture-dislocation injuries result from significant forces that cause significant morbidity and mortality. In rare instances, there have been cases of associated esophageal injury from bony laceration. Here we report a case esophageal entrapment in a high thoracic distraction injury following a motor vehicle accident.

9.
Cureus ; 16(3): e55660, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38586711

RESUMEN

The atlas (C1) and occipital bone at the base of the skull fuse together in atlas occipitalization, an uncommon congenital abnormality. Because it can result in cervical spine instability, nerve impingement, and related symptoms including stiffness, pain, and neurological impairments, it poses a challenging therapeutic problem. We describe the case of a female patient, 27 years old, who had gradually deteriorating neck discomfort, stiffness, and limited cervical mobility for six years prior to presentation. Her symptoms worsened over time despite conservative treatment, so more testing was necessary. Atlas occipitalization, congenital fusion at the C7 and D1 vertebrae, and other related cervical spine pathologies were identified by imaging examinations. The intricacies of atlas occipitalization and related cervical spine pathologies are highlighted in this case study, along with the diagnostic difficulties and interdisciplinary therapeutic strategy needed to address them. To improve cervical range of motion (ROM), lessen discomfort, and improve functional results, the patient underwent a thorough musculoskeletal examination and was given a customized physiotherapeutic intervention.

10.
J Back Musculoskelet Rehabil ; 36(1): 237-244, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-35988216

RESUMEN

BACKGROUND: Andersson lesion (AL) is a rare complication of ankylosing spondylitis (AS). Its clinical outcome of surgical treatment needs further exploration. OBJECTIVE: To evaluate the clinical and radiological outcomes of transforaminal thoracolumbar intervertebral fusion (TTIF) in the treatment of AS patients with thoracolumbar AL. METHODS: Fourteen patients with thoracolumbar AL who suffered from back pain, spinal instability or kyphotic deformity were retrospectively recruited. The clinical outcomes were evaluated with Visual Analog Scale (VAS) and Oswestry Disability Index (ODI). Radiological outcomes were measured with local kyphotic (LK) angle and general kyphotic (GK) angle. RESULTS: Before surgical treatment for the AL patients, their VAS score and ODI score was 8.0 ± 0.2 and 64.0 ± 6.9, respectively. After TTIF surgery, VAS score of the patients was improved to 2.4 ± 0.5 (p< 0.01) and ODI score was decreased to 17.0 ± 3.7 (p< 0.01). One patient with neurological deficit showed an improvement in the Frankel grade from C to D and all others were grated E-level before and after surgery. For radiological outcomes, patients' LK angle was reduced from 18.5 ± 7.2 to 11.0 ± 6.4 (p< 0.01) and GK angle was reduced to 38.6 ± 8.8 from 42.8 ± 10.4 (p< 0.01) at the 1-year follow-up. CONCLUSION: For AS patients with thoracolumbar AL, we propose that TTIF is an effective and safe operative treatment, which can achieve good fusion, satisfactory radiological and clinical outcomes.


Asunto(s)
Cifosis , Fusión Vertebral , Espondilitis Anquilosante , Humanos , Espondilitis Anquilosante/complicaciones , Espondilitis Anquilosante/diagnóstico por imagen , Espondilitis Anquilosante/cirugía , Estudios Retrospectivos , Osteotomía , Cifosis/diagnóstico por imagen , Radiografía , Resultado del Tratamiento , Vértebras Lumbares/diagnóstico por imagen , Vértebras Lumbares/cirugía , Vértebras Torácicas/diagnóstico por imagen , Vértebras Torácicas/cirugía , Fusión Vertebral/efectos adversos
11.
J Orthop Surg Res ; 18(1): 856, 2023 Nov 10.
Artículo en Inglés | MEDLINE | ID: mdl-37950267

RESUMEN

BACKGROUND: Although oblique lumbar interbody fusion (OLIF) has produced good results for lumbar degenerative diseases (LDDs), its efficacy vis-a-vis posterior lumbar interbody fusion (PLIF) remains controversial. This meta-analysis aimed to compare the clinical efficacy of OLIF and PLIF for the treatment of LDDs. METHODS: A comprehensive assessment of the literature was conducted, and the quality of retrieved studies was assessed using the Newcastle-Ottawa Scale. Clinical parameters included the visual analog scale (VAS), and Oswestry Disability Index (ODI) for pain, disability, and functional levels. Statistical analysis related to operative time, intraoperative bleeding, length of hospital stay, lumbar lordosis angle, postoperative disc height, and complication rates was performed. The PROSPERO number for the present systematic review is CRD42023406695. RESULTS: In total, 574 patients (287 for OLIF, 287 for PLIF) from eight studies were included. The combined mean postoperative difference in ODI and lumbar VAS scores was - 1.22 and - 0.43, respectively. In postoperative disc, height between OLIF and PLIF was 2.05. The combined advantage ratio of the total surgical complication rate and the mean difference in lumbar lordosis angle between OLIF and PLIF were 0.46 and 1.72, respectively. The combined mean difference in intraoperative blood loss and postoperative hospital stay between OLIF and PLIF was - 128.67 and - 2.32, respectively. CONCLUSION: Both the OLIF and PLIF interventions showed good clinical efficacy for LDDs. However, OLIF demonstrated a superior advantage in terms of intraoperative bleeding, hospital stay, degree of postoperative disc height recovery, and postoperative complication rate.


Asunto(s)
Lordosis , Fusión Vertebral , Humanos , Fusión Vertebral/métodos , Vértebras Lumbares/diagnóstico por imagen , Vértebras Lumbares/cirugía , Resultado del Tratamiento , Región Lumbosacra/cirugía , Estudios Retrospectivos
12.
Int Neurourol J ; 27(2): 124-128, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37401023

RESUMEN

PURPOSE: This is the first report to compare 3-dimensional computed tomography (3D-CT) images between pediatric patients with enuresis and children without lower urinary tract symptoms who underwent pelvic CT for other reasons. METHODS: Forty-seven children (33 boys and 14 girls) with primary enuresis underwent 3D-CT of sacrococcygeal bones. The control group consisted of 138 children (78 boys and 60 girls) who underwent pelvic CT for other reasons. First, we determined the presence or absence of unfused sacral arches at the L4-S3 levels in both cohorts. Subsequently, we compared the fusion of sacral arches in age- and sex-matched children from these 2 groups. RESULTS: Dysplastic sacral arches, characterized by lack of fusion at 1 or more levels of the S1-3 arches, were observed in nearly all patients in the enuresis group. In the control group (n=138), 54 of 79 children over 10 years old (68%) exhibited fused sacral arches at 3 S1-3 levels. All 11 control children under 4 years old displayed at least 2 unfused sacral arches at the S1-3 levels. In a comparative study of age- and sex-matched patients with enuresis and control children aged 5 to 13 years (n=32 for each group, with 21 boys and 11 girls; mean age, 8.0±2.2 years [range, 5-13 years]), only 1 patient (3%) in the enuresis group exhibited fusion of all S1-3 arches. In contrast, 20 of 32 control group participants (63%) had 3 fused sacral arches (P<0.0001). CONCLUSION: Sacral vertebral arches typically fuse by the age of 10 years. However, in this study, children with enuresis exhibited a significantly elevated prevalence of unfused sacral arches, suggesting that dysplastic development of sacral vertebral arches may play a pathological role in enuresis.

13.
Cureus ; 15(2): e34766, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36909079

RESUMEN

Osseous metastasis (OM) in ovarian cancer (OC) are rare, with an incidence ranging from 0.8% to 2.6%, and are associated with poor prognosis. The available literature on their management and associated complications is scarce. We report a case of International Federation of Gynecology and Obstetrics (FIGO) stage IVB clear cell epithelial OC (EOC) who presented with neck pain. Imaging revealed multiple cervical spine metastases with left vertebral artery encasement and concurrent C1 lateral mass compression fracture, without neurological deficit, requiring occiput to C2 posterior instrumentation and fusion. Early OM may be associated with shorter overall survival, and survival after OM diagnosis is on the order of months. Management of OM should include a multidisciplinary team and may require surgical stabilization in addition to systemic chemotherapy, local radiotherapy, and osteoclast inhibitors.

14.
Children (Basel) ; 9(7)2022 Jul 20.
Artículo en Inglés | MEDLINE | ID: mdl-35884069

RESUMEN

We describe the exceptional case of spinal cord malformation, associating neurenteric cyst, and cervical vertebral malformation, initially presenting as torticollis. A 4-month-old child presented with torticollis to the right since birth. A cervical spine X-ray revealed suspicious findings of fusion anomaly, and a cervical spine CT showed extensive segmentation-fusion anomaly with an anterior and posterior bony defect in the C1-6 vertebrae. A cervical spine MRI revealed extensive segmentation-fusion anomaly with an anterior bony defect, and the spinal cord split forward and backward at the C3 level, showing two hemicords. The anterior half of the hemicord and dural sac extended to the right inferior side, towards the upper blind end of esophageal duplication, and the posterior half joined the hemicord at the back and C6 level. After multidisciplinary collaboration, follow-up and conservative treatment were planned. At 12 months, he had developmental delay, and torticollis showed little improvement. No neurological abnormalities have been observed. The patient plans to undergo surgery for the cervical spine fusion anomaly. Cervical spine X-rays should always be performed when assessing a patient with torticollis to rule out cervical vertebral segmentation anomalies, despite the rarity of the condition.

15.
Int J Paleopathol ; 33: 72-83, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33744835

RESUMEN

OBJECTIVE: The skeletal remains of a young individual (Guinigi US 1278) are described and a differential diagnosis is performed to determine the potential etiology of bone alterations. MATERIALS: Archaeological excavations conducted at the private funerary chapel of the upper class members of the Guinigi family (14th-17th centuries AD) of Lucca (Tuscany, central Italy) brought to light the fragmented human skeletal remains of a young individual (Guinigi US 1278) with pathological osseous modifications. METHODS: Morphological and radiological analyses were followed by differential diagnosis. RESULTS: Guinigi US 1278 was a non-adult aged 16-20 years, who exhibited florid skeletal alterations in the form of vertebral fusion and extensive subchondral bone changes of the small and large joints of the appendicular skeleton. The severity of the resorptive process in the peripheral joints, as well as vertebral fusion, indicates a long-standing inflammatory process. CONCLUSIONS: The features and the distribution of the skeletal lesions of Guinigi US 1278 are highly consistent with a form of juvenile idiopathic arthritis (JIA), leading to irreversible phenomena such as subchondral erosive lesions and axial ankylosis, with impairment of the gait and neck movements. SIGNIFICANCE: While abundant clinical literature on JIA is available, paleopathological studies are scarce. The possible case of JIA from Lucca provides a direct opportunity to examine the chronic course of rheumatic disease in young individuals in the absence of appropriate medical therapies in the antiquity. SUGGESTIONS FOR FURTHER RESEARCH: Future molecular analyses might be able to identify specific alleles of the HLA region responsible for JIA subtypes.


Asunto(s)
Artritis Juvenil , Arqueología , Huesos , Humanos , Paleopatología , Radiografía
16.
Surg J (N Y) ; 7(4): e363-e365, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34966850

RESUMEN

Congenital Bochdalek hernia (BH) in an adult is rare and has an unusual presentation. They are confined to the pediatric age group with an incidence of 1:3,000 live births. It rarely persists asymptomatic until adulthood. Surgical repair by thoracic, abdominal, or thoraco-abdominal approach is the treatment of choice with diaphragmatic reconstruction in associated diaphragmatic agenesis. With only 10 cases of BH with partial diaphragmatic agenesis reported to date, we discuss the rarity, unusual presentation, and management of BH in a young adult with sickle cell disease that has not been reported in the literature.

17.
Genes (Basel) ; 12(9)2021 08 29.
Artículo en Inglés | MEDLINE | ID: mdl-34573339

RESUMEN

Multiple synostoses syndrome type 4 (SYNS4; MIM 617898) is an autosomal dominant disorder characterized by carpal-tarsal coalition and otosclerosis-associated hearing loss. SYSN4 has been associated with GDF6 gain-of-function mutations. Here we report a five-generation SYNS4 family with a reduction in GDF6 expression resulting from a chromosomal breakpoint 3' of GDF6. A 30-year medical history of the family indicated bilateral carpal-tarsal coalition in ~50% of affected family members and acquired otosclerosis-associated hearing loss in females only, whereas vertebral fusion was present in all affected family members, most of whom were speech impaired. All vertebral fusions were acquired postnatally in progressive fashion from a very early age. Thinning across the 2nd cervical vertebral interspace (C2-3) in the proband during infancy progressed to block fusion across C2-7 and T3-7 later in life. Carpal-tarsal coalition and pisiform expansion were bilaterally symmetrical within, but varied greatly between, affected family members. This is the first report of SYNS4 in a family with reduced GDF6 expression indicating a prenatal role for GDF6 in regulating development of the joints of the carpals and tarsals, the pisiform, ears, larynx, mouth and face and an overlapping postnatal role in suppression of aberrant ossification and synostosis of the joints of the inner ear (otosclerosis), larynx and vertebrae. RNAseq gene expression analysis indicated >10 fold knockdown of NOMO3, RBMXL1 and NEIL2 in both primary fibroblast cultures and fresh white blood cells. Together these results provide greater insight into the role of GDF6 in skeletal joint development.


Asunto(s)
Factor 6 de Diferenciación de Crecimiento/genética , Trastornos del Habla/genética , Sinostosis/diagnóstico por imagen , Sinostosis/etiología , Adolescente , Adulto , Niño , Femenino , Expresión Génica , Humanos , Masculino , Linaje , Trastornos del Habla/etiología , Síndrome , Sinostosis/genética , Adulto Joven
18.
J Craniovertebr Junction Spine ; 12(2): 202-208, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34194169

RESUMEN

INTRODUCTION: One of the most common types of spinal diseases is spondylolisthesis, which in advanced cases requires surgical intervention. This study aimed to compare the results of L4-L5-S1 and L5-S1 vertebral fusion treatment in high-grade L5-S1 spondylolisthesis. METHODS: A study design that randomized controlled trial. A total of 70 consecutive patients who underwent surgery for the treatment of spondylolisthesis at Al-Zahra Hospital in Isfahan, Iran, were evaluated from July 2020 to February 2021 (35 patients underwent L4-L5-S1 and 35 received L5-S1 vertebral fusion treatment). The radicular and low back pain (LBP) intensity (Vanguard Australian Shares), blood loss, wound infection, reduction, and quality of life (SF-12 scores) were quantified before the surgery, 1, 3, and 6 months after surgery in two groups. RESULTS: Patients involved in the two groups had similar baseline demographic characteristics. The percent slip in L4-L5-S1 and L5-S1 group, respectively, postoperative 81.11% and 57.89%, P = 0.0001. Intraoperative blood loss and postoperative were higher in the L4-L5-S1 group when compared to the L5-S1 group (P < 0.05). The wound infection rate of the L4-L5-S1 group was similar to that of the L5-S1 group (8.6% vs. 2.9%, P = 0.303). There was no difference in radicular and LBP intensity, SF-12 scores among patients with L4-L5-S1 and L5-S1 groups (P < 0.05). CONCLUSION: Both L4-L5-S1 and L5-S1 were equally beneficial in improving short-term functional outcomes for patients with high grade L5-S1 spondylolisthesis. However, L4-L5-S1 was associated with statistically significant higher incidences of blood loss, but it was accompanied by a better reduction. Therefore, caution should be exercised when considering L4-L5-S1.

19.
Cureus ; 13(3): e13719, 2021 Mar 05.
Artículo en Inglés | MEDLINE | ID: mdl-33833930

RESUMEN

Klippel-Feil syndrome (KFS) is characterized by failed segmentation of the cervical spine leading to inappropriately fused vertebral bodies. A 64-year-old male with a previous L5-S1 decompression presented with significant neck pain with radiation into the entire right upper extremity and hand. Imaging demonstrated fusion of the vertebral bodies at C2-3, C4-6, and C7-T1 with associated disc bulges at C3-4 and C6-7. Common presentation of KFS includes significant spondylosis and cervical myeloradiculopathy in addition to the classic triad of short neck, low posterior hairline, and restricted neck motion. We present exemplary images of this rare condition to aid clinicians in future diagnoses.

20.
Int J Paleopathol ; 30: 47-56, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32464525

RESUMEN

OBJECTIVE: This case-study provides a summary of skeletal lesions seen in a case of diagnosed juvenile pulmonary tuberculosis with extensive multifocal bony lesions. MATERIALS: Skeleton of a 9-year-old girl who died in the 1940s in Lisbon, Portugal. The remains of this individual are part of the Lisbon skeletal reference collection curated at the National Museum of Natural History and Science. METHODS: Lesions and paleopathological conditions were identified and documented through macroscopic, radiographic, computed tomographic, and mammographic analysis. RESULTS: The skeleton shows a variety of lytic lesions on the ribs and thoracic vertebrae including complete destruction of the bodies and fusion of the vertebral arches of four vertebrae, kyphosis, and scoliosis. Further pathological conditions were identified, including bone erosion, premature fusion of the left femoral head and greater trochanter, and abnormal size and shape changes to the lower limbs including loss of bone mass and stunting of the long bones. CONCLUSIONS: Skeletal lesions are indicative of spondylitis, Pott's disease, and prolonged bedrest. SIGNIFICANCE: This case is one of the few examples of confirmed juvenile pulmonary tuberculosis with skeletal lesions prior to the antibiotic era. As such, it provides a reference for the skeletal abnormalities which may be observed in archaeological tuberculosis cases. LIMITATIONS: Pulmonary tuberculosis was recorded as cause of death, however there is no documentation to know the length of illness period or the existence of any comorbidities. SUGGESTIONS FOR FURTHER RESEARCH: Consideration of multi-focal lesions is recommended when analyzing individuals with suspected tuberculosis.


Asunto(s)
Huesos/patología , Tuberculosis Pulmonar/patología , Tuberculosis de la Columna Vertebral/patología , Niño , Femenino , Historia del Siglo XX , Humanos , Paleopatología , Portugal
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