Anadromous fish as biomarkers for the combined impact of marine and freshwater heavy metal pollution.

Rivers along the eastern seaboard of the United States and Canada are becoming increasingly contaminated with heavy metals. This includes the Tusket River (Nova Scotia, Canada) which empties into the Gulf of Maine, near the Bay of Fundy. Whether anadromous fish such as alewife (Alosa pseudoharengus), exposed both to marine and freshwater contaminants, are accumulating these heavy metals and experiencing any changes in their morphology was explored in this study. Adult (4-6 years of age) Tusket River alewife (n = 38) were harvested and had external examinations including morphometrics (fork length, weight). Biopsies were taken and structural abnormalities noted. Morphometric data was compared to historical alewife reference data from 1985. Biopsies of muscle, liver and kidney had heavy metal profiles assessed. Major findings of this study include detectable levels (µg/g wet weight) of a number of heavy metals and concerning maximum concentrations achieved of arsenic (liver: 14 µg/g), cadmium (kidney: 2.6 µg/g), mercury (liver: 0.26 µg/g), magnesium (muscle: 460 µg/g), selenium (kidney: 4.0 µg/g) and zinc (liver: 38.0 µg/g). As well, reduced body weight for length and in 87% of fish, presence of spine curvatures (3-24°) not visible externally were noted. This study is the first detailed report in alewife of key tissue heavy metals, some at levels of concern, reductions in weight for length and spine abnormalities. These findings validate concerns regarding potential impacts of deteriorating conditions of rivers and their surrounding waters such as the Gulf of Maine on anadromous fish species.

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.

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.

A case study of occipital outgrowth: a rare suboccipital abnormality.

PURPOSE: To describe the clinical and radiological characteristics of uncommon upper cervical spine abnormality in children. METHODS: Clinical and diagnostic characteristics of three patients aged 6-12 years with a similar uncommon type of occipital anomaly are described. The patients were admitted in 2007, 2009, and 2014, respectively. RESULTS: All patients were clinically and radiologically examined. In each case the massive, additional unilateral outgrowth of the occipital bone (os occipitale) was visualized. The signs and symptoms included torticollis, acute brain ischemia, and limited head motion. Two of the three patients underwent surgical treatment: an occipital-cervical fusion was performed in the first patient, and the outgrowth was removed in the second patient. After 1 year of follow-up the results were estimated as good for both patients, with better functional outcome for the second patient. The parents of the third patient did not consent for the surgical treatment. CONCLUSIONS: The unique features of this abnormality distinguish it from previous descriptions of the manifestation of pro-atlas, atlas, or atlanto-occipital synostosis. The presented abnormality had different manifestation of various severity in each case, from torticollis to acute vascular disorder. STUDY DESIGN: Clinical case series. LEVEL OF EVIDENCE: IV.

A Comprehensive Approach to the Diagnosis and Management of Klippel Feil Syndrome.

Klippel-Feil Syndrome (KFS) is a rare genetic disorder characterized by the abnormal development of the cervical spine, leading to the fusion of two or more cervical vertebrae. The syndrome presents diverse symptoms, including limited neck movement, chronic pain, and neurological manifestations such as limb numbness or weakness. The severity of KFS can vary significantly, and treatment primarily focuses on symptom management and preventing complications such as scoliosis or spinal cord compression. Surgical interventions are often necessary for patients with complex forms of the syndrome. Interestingly, Chiari 1 malformation, a cranial anomaly affecting the brainstem, can coincide anatomically with KFS. In this case report, we present the case of a 9-year-old patient who sought medical attention due to persistent, unchanging neck pain. The patient's medical history was notable for developmental delays and cervical restraint observed during physical examination. Magnetic resonance imaging (MRI) findings revealed hydrocephalus and brainstem descent, indicating the presence of Chiari 1 malformation. Comprehensive MRI and CT scans were performed, and a management plan was formulated, primarily involving cranial surgery and physiotherapy. Implementation of the treatment approach resulted in significant improvement in the patient's symptoms. This case highlights the significance of considering Chiari 1 malformation as a potential comorbidity in patients diagnosed with KFS who present with persistent neck pain. Early detection and appropriate management of both conditions are crucial for achieving favorable outcomes and enhancing the quality of life for affected individuals. Understanding the complex interplay between KFS and Chiari 1 malformation is essential for providing comprehensive care and tailored treatment strategies. Further research is warranted to elucidate the underlying mechanisms linking these two conditions and to explore optimal management approaches for patients with dual pathology. By reporting this case, we contribute to the existing literature and increase awareness among healthcare professionals regarding the potential coexistence of KFS and Chiari 1 malformation. Continued efforts in identifying associated anomalies and optimizing therapeutic interventions will aid in improving patient outcomes and ensuring optimal care for individuals affected by these conditions.

The craniovertebral junction, between osseous variants and abnormalities: insight from a paleo-osteological study.

The bony components of the craniovertebral junction (CVJ) have been investigated in 172 skeletons, dug up from several archaeological sites, to define the frequency of developmental dysmorphisms, and to acquire qualitative and quantitative data about their morphology. A review of the pertinent literature is also presented. Twenty-five individuals (14.5%) exhibited at least one dysmorphism, which ranged from a condition of simple variant to a true malformation. Four individuals presented two or more anomalies at the same time (2.3% of the whole sample, 16% of the affected individuals). The most frequently observed abnormalities were: (i) the presence of a complete bony bridge in the atlas, forming a canal surrounding the vertebral artery (arcuate foramen, supertransverse foramen, and the simultaneous occurrence of arcuate foramen and supertransverse foramen); (ii) the presence of basilar processes. Basilar processes displayed a great variety in shape and dimension. They also differed with respect to their relationship with atlas and axis. The less frequently detected anomalies were: (i) complete absence of the posterior arch of C1, (ii) fusion of C2 and C3, and (iii) irregular segmentation of C2. A broad array of structural defects has been described at the CVJ. They may occur either isolated or as part of complex multisystem syndromes. Although harmless in many cases, they can notwithstanding cause severe, even life-threatening complications. When unrecognized, they may generate trouble during surgery. Hence, accurate knowledge of CVJ arrangement, including its multifarious variations, is a critical issue for radiologists, clinicians, surgeons, and chiropractors.

Congenital kyphosis due to a body agenesis from Ancient Egypt.

In Paleopathology, total lack of a vertebral body is a rare finding, mostly due to infectious diseases or tumors. We report the case of an adult male from the necropolis next to "Temple of the Millions of Years" of Thutmose III dated to the Late Old Kingdom and First Intermediate Period (2345-2055 BCE). He showed a fracture of T12, more than 50%, associated with the complete disappearance of the body of L1 and bilateral transverse process. Infection and tumor involvement were ruled out due to the morphology of the spinal segment. The most likely diagnosis was complete body agenesis. Congenital kyphosis related to vertebral agenesis has been described as a possibility in paleopathology, but it had not been reported until now.

Escoliosis idiopática del adolescente, análisis postoperatorio. Serie de casos / Idiopathic adolescent scoliosis, post-operative analysis. Case Series

Introducción La escolisis es una deformidad tridimencional de la columna vertebral. El objetivo principal del tratamiento es evitar la progresión, lograr la máxima corrección y la artrodesis del menor numero de segmentos, con buen balance coronal y sagital que permita una fusión indolora. El objetivo del estudio es evaluar los resultados de los pacientes operados por escolisis idiopática del adoelscente en nuestro centro. Materiales y Métodos se realizó un estudio tipo serie de casos, se incluyeron pacientes operados entre 2011 y 2017; en ellos se estudiaron: los datos demografícos, el tipo de curva, la densidad de tornillos utilizados, el porcentaje de reducción lograda al año y las complicaciones. Resultados Se obtuvieron datos de 27 pacientes. Pedominaron las curva Lenke 1B. El ángulo de Cobb preoperatorio promedio fue de 66,5o con un postoperatorio de24,4o. La densidad de tornillo presentó un promedio de 1,4. Presentaron complicaciones el 25,6% de los pacientes, siendo la más frecuente la infección. En el cuestionario SRS-22 se obtuvieron buenas resultados. Discusión Se ha reportado una densidad de 0,8-1,69 tornillos por vértebra fusionada con un porcentaje de corrección de 64-70%. En nuestro resultados la densidad de tornillos por vertebra fusionado fue de 1,4 lográndose una reduccion de 64,1%. Aumentar el número de tornillos no aumentó el grado de corrección de las curvas. En concordancia con la literatura la complicación mas frecuente fue la infección, con baja incidencia de lesión neurológica. Concluimos que la técnica de artrodesis utilizada en nuestro centro, con tornillos pediculares de tercera generación, obtiene buenos resultados de reducción, con porcentaje de complicaciones similares a los reportados previamente.

Background Scoliosis is a three-dimensional deformity of the spine. The main objective of treatment is to avoid progression, achieve maximum correction and arthrodesis of the least number of segments, with good coronal and sagittal balance that allows a painless fusion. The aim of the study is to evaluate the results of patients who underwent to surgical fusion for adolescent idiopathic scoliosis. Material and Methods A case series study was conducted by analyzing medical records of patients who underwent to surgical fusion for adolescent idiopathic scoliosis. between 2011 through 2017.An analysis of demographic data, the type of curve, the density of screws used, the percentage of reduction achieved after one year, and complications was performed. Results Data of 27 patients was included. Lenke 1B curves were predominant. The mean preoperative Cobb angle was 66.5o with a postoperative 24.4o. Screw density presented an average of 1.4. Complications were presented in 25.6% of the patients, the most frequent being infection. Good results were obtained in the SRS-22 questionnaire. Discussion A density of 0.8-1.69 screws per fused vertebra has been reported with a correction percentage of 64-70%. In our results, the density of screws per fused vertebra was 1.4, achieving a reduction of 64.1%. Increasing the number of screws did not increase the degree of correction of the curves. In accordance with the literature, the most frequent complication was infection, with a low incidence of neurological injury. We conclude that the arthrodesis technique used in our center, with third-generation pedicle screws, obtains good reduction results, with a percentage of complications similar to those previously reported.

[Risk factors associated with structural postural changes in the spinal column of children and adolescents]. / Fatores de risco associados a alterações posturais estruturais da coluna vertebral em crianças e adolescentes.

OBJECTIVE: To investigate the association between behavioral risk factors, specifically postural habits, with the presence of structural changes in the spine of children and adolescents. METHODS: 59 students were evaluated through the self-reporting Back Pain and Body Posture Evaluation Instrument e and the spine panoramic radiographic examination. The spine curvatures were classified, based on Cobb' angle, as normal or altered in the saggital plane and as normal or scoliotic in the frontal plane. Data were analyzed using SPSS 18.0, from descriptive statistics and chi-square association test (α=0,05). RESULTS: The prevalence of postural alterations was 79.7% (n=47), of which 47.5% (n=28) showed frontal plane alterations and 61% (n=36) sagital plane alterations. Significant association was found between the presence of thoracic kyphosis and female gender, practice of physical exercise only once or twice a week, sleep time greater than 10 hours, inappropriate postures to sit on the bench and sit down to write, and transport of school supplies. Lumbar lordosis was associated with improperly transportation of school backpack (asymmetric); and scoliosis was associated with the practice of competitive sport and sleep time greater than 10 hours. CONCLUSIONS: Lifestyle may be associated with postural alterations. It is important to develop health policies in order to reduce the prevalence of postural alterations with a reduction of associated risk factors.

FUNCTIONAL AND RADIOGRAPHIC COMPARISON OF ANTERIOR AND POSTERIOR INSTRUMENTATION FOR THE CORRECTION OF ADOLESCENT IDIOPATHIC SCOLIOSIS.

OBJECTIVE: This was a retrospective study to compare the anterior instrumentation (AI) and posterior instrumentation (PI) results among patients diagnosed with adolescent idiopathic scoliosis (Lenke type I) who were treated surgically. METHODS: The results from 24 patients aged 11 to 18 years with Lenke type I idiopathic scoliosis who underwent surgery with AI (12 patients) or PI (12 patients) were compared. All the patients were operated by the same surgeon and were followed up for a minimum period of five years. The variables for comparison included: coronal and sagittal correction, distance from apical vertebra to midline, apical vertebral rotation, number of instrumented vertebrae and functional variables (by means of the SRS-22 questionnaire). The data obtained were analyzed using the SAS software, version 9. The two groups were compared using Student's t-test with a significance level of 5% (0.05). RESULTS: The correction of the curve in the frontal plane was higher in the group of patients with the anterior approach, in the immediate (p=0.031) and late (p=0.043) postoperative periods, as was the apical vertebral rotation during the immediate (p=0.002) and late (p=0.019) evaluations. The number of instrumented vertebrae was 7.69 ± 1.38 in the AI group and 11.38 ± 2.92 in the PI group (p = 0.021). Functional assessment (SRS-22) did not show any significant difference (p > 0.05) between the groups. CONCLUSION: The patients who underwent scoliosis correction with AI presented greater correction in the frontal plane, greater derotation of apical vertebrae and a smaller number of fused vertebrae.

Iphone app use to Cobb angle in adolescent idiopathic scoliosis: Does this apply? / Uso de aplicativo de iphone para ângulo de Cobb na escoliose idiopática do adolescente: É aplicável? / Uso de aplicaciones móviles para Iphone para el ángulo de Cobb en la escoliosis idiopática del adolescente: ¿es aplicable?

To validate a new method of measuring the Cobb angle for scoliosis from the mobile app CobbMeter to facilitate the evaluation and measurement in clinical practice.

Validar um novo método de medida do ângulo de Cobb para escoliose a partir do aplicativo para aparelho telefônico celular CobbMeter para facilitar a avaliação e medição na prática clínica.

Validar un nuevo método de medición del ángulo de Cobb para la escoliosis a partir de la aplicación móvil CobbMeter, para facilitar la evaluación y la medición en la práctica clínica.