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1.
J Anat ; 242(3): 354-361, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36308488

RESUMO

Some muscles present neuromuscular compartments, one of which is the gracilis muscle. The aim of the present study is to determine the number of compartments present within the gracilis muscle based on its intramuscular innervation patterns; such knowledge could be of value in free functional muscle transfer. The study comprised 72 gracilis muscles (38 women, 34 men), fixed in 10% formalin solution. The muscles were removed and then stained using Sihler's method. When sufficient transparency was achieved, some measurements were made. Three different types of intramuscular innervation were distinguished. Type I (70.8%) was featured by at least one direct proximal nerve branch. Type II (23.6%) presented at least one indirect proximal nerve branch. Type III (5.6%) did not possess any proximal nerve branch. The median of descended nerve branches was five. Considerable anatomical variation is possible within the intramuscular innervation of the gracilis muscle. The muscle presents neuromuscular compartments, but the exact number depends on the type of its intramuscular innervation and the number of the main descendent nerve branches. All three types seem to be appropriate for free functional muscle transfer. Our findings may be of great value for surgeons carrying out complex reconstructions with the use of the gracilis muscle.


Assuntos
Músculo Grácil , Masculino , Humanos , Feminino , Coloração e Rotulagem , Músculo Esquelético/inervação , Músculos Oculomotores , Cadáver
2.
Clin Anat ; 36(2): 242-249, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36199212

RESUMO

The ligamentum mucosum (LM) is a ligamentous structure within the synovial layer of the knee joint capsule. For a long time LM was perceived as the vestigial remnant from the embryological development of the knee. However, last years have shown increased interest in this structure due to its potentially significant clinical role. Fifty-one, 12 females (mean age 83.1 ± 3.4 years) and 39 males (mean age 84.2 ± 6.8 years) fixed in 10% formalin were examined. Upon dissection, the following morphological features of the LM were assessed: the types of LM, morphometric measurement and histological analysis of each type. The LM was present in 66.7% of all examined specimens. Three different types were recognized: Type I (55.9%)-single band with attachment to the intercondylar notch, Type IIa-bifurcated ligament with attachment to the anterior cruciate ligament, Type IIb-bifurcated ligament with both attachments to the intercondylar notch, Type III-double ligament with two independent bands and attachments to the intercondylar notch and to the knee joint capsule. The LM is variable and probably evolutionary changes are the reason. In our study we propose the new clinically useful classification supported by its anatomical and histological characteristics. Type IIa seems to be the most important from the clinical point of view, as it may be responsible for clinical issues and should be paid attention while diagnosing patients suffering from anterior cruciate ligament torn or anterior knee pain.


Assuntos
Lesões do Ligamento Cruzado Anterior , Articulação do Joelho , Masculino , Feminino , Humanos , Idoso , Idoso de 80 Anos ou mais , Articulação do Joelho/anatomia & histologia , Ligamento Cruzado Anterior/anatomia & histologia , Joelho , Extremidade Inferior , Fêmur/anatomia & histologia
3.
Respiration ; 101(9): 878-892, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35760051

RESUMO

INTRODUCTION: The purpose of this study was to evaluate the potential utility of respiratory muscles ultrasound (US) imaging for assessing respiratory function and identify US variables that best correlate with pulmonary parameters. MATERIALS AND METHODS: A search of 5 databases was conducted. Initially, there was no language, study design, or time frame restrictions. All studies assessing the relationship between pulmonary and US parameters were included. Two reviewers independently extracted and documented data regarding to examined population, age, gender, health condition, methodology, US, and pulmonary function measurements. All studies were qualitative synthesis. RESULTS: A total of 1,272 participants from 31 studies were included. Diaphragm thickness, diaphragm thickening ratio, and diaphragm excursion amplitude were mainly used as US parameters. Forced vital capacity, forced expiratory volume1sec, and maximal inspiratory pressure were mainly used as pulmonary parameters. The relationships between pulmonary and US parameters varied from negligible to strong (depend on examined population and methodology used). Data were not quantitatively synthesis due to high heterogeneity in terms of study design, population examined, and various pulmonary and US parameters. CONCLUSION: A strong relationship between US measurements and pulmonary parameters was demonstrated in some studies but not others. This review confirmed that US measurements can complement spirometry, but the exact role of the US remains to be confirmed. Further studies using standardized methodology are needed to obtain more conclusive evidence on the usefulness of US for assessing respiratory function.


Assuntos
Diafragma , Músculos Respiratórios , Diafragma/fisiologia , Humanos , Pressões Respiratórias Máximas , Músculos Respiratórios/diagnóstico por imagem , Ultrassonografia/métodos , Capacidade Vital
4.
Surg Radiol Anat ; 44(7): 963-970, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35788885

RESUMO

INTRODUCTION: The anterior compartment of the arm consists of three muscles: the biceps brachii, brachialis and coracobrachialis. The aim of the present study was to characterize possible variations in the morphology of the proximal attachments of the long head of the biceps brachii and to propose an accurate classification of the area which can be useful for planning surgical procedures and planning rehabilitation in the region. MATERIALS AND METHODS: Eighty (40 left and 40 right, 40 female, 40 male) upper limbs fixed in 10% formalin solution were examined. RESULTS: The main tendon of the long head of the biceps brachii demonstrated three types of attachment. The most common type, Type I (53.75%), was characterized by a single attachment only for the supraglenoid tubercle. Type III (33.75%) was characterized by a single attachment to the glenoid labrum. Type II (12.5%) was characterized by a double attachment to the glenoid labrum and the supraglenoid tubercle. Additionally, two types of the accessory tendon of the long head of the biceps brachii were identified (Type A-B). Type A (14 cases) was attached to the capsule of the humeral joint, and Type B (six cases) was attached to the greater tubercle of the humerus. CONCLUSION: The long head of the biceps brachii is characterized by high morphological variability. The new classification proposes three types of proximal attachment (I-III), with two types of accessory long head of the biceps brachii (A-B) tendon. A thorough understanding of the morphological variability of the long head of the biceps brachii is necessary when planning arthroscopic procedures or even planning rehabilitation procedures.


Assuntos
Braço , Articulação do Ombro , Artroscopia , Feminino , Humanos , Masculino , Músculo Esquelético/anatomia & histologia , Articulação do Ombro/anatomia & histologia , Tendões/anatomia & histologia
5.
Clin Anat ; 34(3): 397-404, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32713016

RESUMO

INTRODUCTION: The tibialis anterior muscle originates from the medial part of the anterior compartment, from the upper two-thirds of the lateral surface of the tibia and the adjacent part of the interosseous membrane, and typically inserts to the medial cuneiform and first metatarsal bone. The goal of the study was to examine the insertion of the tibialis anterior tendon and create a classification in human fetuses. MATERIALS AND METHODS: Fifty spontaneously-aborted human fetuses (26 male, 24 female, 100 lower limbs), aged 18-38 weeks of gestation at death were examined. RESULTS: The classification comprised five types of tibialis anterior tendon insertion. The most common was Type V (60%), which was characterized by a single tendon inserting onto the medial cuneiform bone. The second most frequent was Type I (19%), which was characterized by a tendon which split into two equal-sized parts that insert to the medial cuneiform bone and the base of the first metatarsal. The third was Type II (12%), which was characterized by a tendon splitting into two different-sized parts that inserted onto the medial cuneiform bone (larger component) and the base of the first metatarsal (smaller component). The fourth type was Type III (5%), which was also characterized by a tendon splitting into two different-sized parts that inserted onto the medial cuneiform bone (smaller component) and the base of the first metatarsal (larger component). Finally, Type VI (4%), the least frequent type, was characterized by a tendon splitting into three different-sized parts, inserting onto the medial cuneiform bone (the smallest component) and the base of the first metatarsal (the middle and larger component). CONCLUSION: The tibialis anterior muscle is characterized by high variability in the approach of its tendon to the foot, at least in fetuses. This is classified in the present study for the first time.


Assuntos
Ossos do Pé/anatomia & histologia , Extremidade Inferior/anatomia & histologia , Músculo Esquelético/anatomia & histologia , Tendões/anatomia & histologia , Feto Abortado , Variação Anatômica , Cadáver , Feminino , Humanos , Masculino
6.
Clin Anat ; 34(1): 71-81, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32644202

RESUMO

PURPOSE: The quadriceps femoris (QF) consists of four muscles: the rectus femoris; vastus medialis; vastus lateralis, and vastus intermediate. The tendons of all of these parts join together into a single tendon that attaches to the patella. The QF is a powerful extensor of the knee joint that is needed for walking. A growing number of publications have examined the fifth head of the QF muscle. There is no information about the possibility of other heads, and there is no correct classification of their proximal attachments. Further, the frequency of occurrence of additional heads/components of the QF remains unclear. METHODS: One hundred and six lower limbs (34 male and 18 female) fixed in 10% formalin solution were examined. RESULTS: Additional heads of the QF were present in 64.1% of the limbs. Three main types were identified and included subtypes. The most common was Type I (44.1%), which had an independent fifth head. This type was divided into two subtypes (A-B) depending on its location relative to the vastus intermediate. The second most common type was Type II (30.8%), which originated from other muscles: IIA from the vastus lateralis; IIB from the vastus intermediate, and IIC from the gluteus minimus. In addition, Type III (25%) was characterized by multiple heads: IIIA-two heads with a single common tendon; IIIB-two heads with two separate tendons; IIIC-three heads (lateral, intermediate, medial), and IIID-four heads (bifurcated lateral and bifurcated medial). CONCLUSION: The introduction of a new classification based on a proximal attachment is necessary. The presence of the fifth, sixth, seventh, or eighth head varies.


Assuntos
Músculo Quadríceps/anatomia & histologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Cadáver , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
7.
Surg Radiol Anat ; 43(5): 679-688, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33564931

RESUMO

INTRODUCTION: The coracobrachialis muscle (CRM) originates from the apex of the coracoid process, in common with the short head of the biceps brachii muscle, and from the intermuscular septum. It inserts to the medial part of the humerus between the attachment of the medial head of the triceps brachii and the brachial muscle. Both the proximal and distal attachments of the CRM, as well as its relationship with the musculocutaneus nerve, demonstrate morphological variability. MATERIAL AND METHODS: One hundred and one upper limbs (52 left, and 49 right) fixed in 10% formalin solution were examined. RESULTS: Three main types, with subtypes, were identified. The most common was Type I (49.5), characterized by a single muscle belly with a classical origin from the coracoid process, medially and posteriorly to the tendon of the biceps brachii. Type II (42.6%), characterized by two heads, was divided into two subtypes (A-B) depending on its origin: Type IIA, where one head originated from the coracoid process posteriorly to the tendon of the biceps brachii and the second head from the short head of the biceps brachii, and Type IIB, in which both heads originated from the coracoid process; however, the superficial head fused with the insertion of a short head of the biceps brachii, while the deep head was directly originating. Finally, Type III (7.9%) was characterized by three heads: two originated from the coracoid process (superficial and deep), and the third from a short head of the biceps brachii. Two types of insertion and two types of musculocutaneous nerve (MCN) relative to CRM could be distinguished. CONCLUSION: An adapted classification is needed for all clinicians working in this area, as well as for anatomists. The CRM demonstrates morphological variability in both its proximal and distal attachments, as well as the variable course of the MCN relative to the CRM. WHAT IS KNOWN ABOUT THIS SUBJECT "AND" WHAT THIS STUDY ADDS TO EXISTING KNOWLEDGE: Not much is known about the variability of coracobrachialis muscle. The present paper introduces a completely new classification, both clinical and anatomical.


Assuntos
Variação Anatômica , Anatomia Regional/classificação , Processo Coracoide/anatomia & histologia , Úmero/anatomia & histologia , Músculo Esquelético/anatomia & histologia , Idoso , Idoso de 80 Anos ou mais , Cadáver , Dissecação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
8.
Pol J Radiol ; 86: e143-e150, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33828624

RESUMO

PURPOSE: The diagnosis of Crohn's disease (CD), one of the inflammatory bowel diseases (IBD), along with ulcerative colitis (UC), is often challenging due to the limitations of small intestine visualisation. Magnetic resonance enterography (MRE) enables imaging of intraluminal and extraintestinal complications without ionizing radiation. The objective of this study is to select CD-related MRE features and determine the feasibility of this technique to indicate a group of patients that should be subjected to more invasive diagnostic procedures. MATERIAL AND METHODS: A total of 131 patients (mean age 25) underwent MRE, 60 of whom had been previously diagnosed with CD and 17 with UC. Additionally, 26 patients with suspected IBD and 28 with other or unknown pathologies were included in the study. Radiological reports of MRE examinations, effectuated using a 1.5-T field strength, were retrospectively analysed regarding radiological features of IBD, such as the following: bowel wall thickening, enhancement, comb sign, stricture, enlarged mesenteric nodes, inflammatory infiltration, and abnormal diffusion restriction in diffusion-weighted imaging. The statistical model was based on machine learning of the Kohonen map, together with univariate and multivariate analysis. RESULTS: The selected neuron (Neuron 3) incorporated 23 cases of CD, 9 of suspected IBD, 2 patients with UC, and 4 with other pathologies. The statistical analysis identified bowel wall thickening, intestinal stricture, and lymphadenopathy as the 3 MRE findings most associated with Neuron 3 (AUC = 0.919, p = 0.031). CONCLUSIONS: Bowel wall thickening, stricture, and enlarged mesenteric lymph nodes in MRE are independent predictive factors for CD diagnosis; thus, patients presenting these features should undergo further examinations. MRE constitutes a powerful imaging modality in cases of suspected IBD.

9.
Lipids Health Dis ; 19(1): 169, 2020 Jul 14.
Artigo em Inglês | MEDLINE | ID: mdl-32664969

RESUMO

BACKGROUND: Familial hypercholesterolemia (FH) increases the risk of atherosclerosis in children and adults. Atherosclerotic cardiovascular disease in young patients FH is usually subclinical but recognition of children with more pronounced changes is crucial for adjusting effective management. Aim of this research was to use ultrasonography with two-dimensional speckle tracking (2DST) and tonometry to evaluate atherosclerotic changes in patients with FH (parents and their offspring). METHODS: Applanation tonometry and carotid arteries sonography with evaluation of the intima-media complex thickness (IMCT) and application of the 2DST were performed in 20 families with FH (20 parents and 29 children). The same size control group (age and sex matched) was included. Results were compared between peers and between generations together with the correlation analysis. RESULTS: Adults with FH, in comparison with healthy peers, presented significantly more atherosclerotic plaques (9 vs. 2, p = 0.0230), had significantly thicker IMC (0.84 ± 0.19 vs. 0.56 ± 0.06 mm, p < 0.0001) and had stiffer arterial wall (for stain: 6.25 ± 2.3 vs. 8.15 ± 2.46, p = 0.0103). In children from both groups there were no atherosclerotic plaques and IMCT did not differ significantly (0.42 ± 0.07 vs. 0.39 ± 0.04, p = 0.1722). However, children with FH had significantly stiffer arterial wall according to 2DST (for strain: 9.22 ± 3.4 vs. 11.93 ± 3.11, p = 0.0057) and tonometry (for the pulse wave velocity: 4.5 ± 0.64 vs.3.96 ± 0.62, p = 0.0047). These parameters correlated with atherosclerosis surrogates in their parents (p < 0.001) but were not significantly affected by presence of presumed pathogenic gene variant. CONCLUSIONS: Children with FH presented subclinical atherosclerosis manifested as decreased arterial wall elasticity. Degree of stiffening was associated with advancement of atherosclerosis in their parents but did not present significant association with gene variants. Sonography with application of 2DST seems to be a good candidate for comprehensive evaluation of atherosclerosis in families with FH.


Assuntos
Aterosclerose/diagnóstico por imagem , Hiperlipoproteinemia Tipo II/diagnóstico por imagem , Adolescente , Adulto , Aterosclerose/diagnóstico , Espessura Intima-Media Carotídea , Criança , Estudos Transversais , Feminino , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Masculino , Manometria , Pessoa de Meia-Idade , Ultrassonografia
10.
Mediators Inflamm ; 2020: 7649480, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32410862

RESUMO

Systemic sclerosis (SSc) is a connective tissue disorder characterized by tissue hypoxia, excessive fibrosis of skin and internal organs, and angiogenesis imbalance. The aim of the study was to evaluate in SSc patients the association between the retinal microcirculation disturbances and the presence of peripheral trophic changes and to determine the role of angiogenesis factors in the formation of vascular changes in scleroderma. Twenty-five SSc patients and 25 age- and sex-matched healthy controls were included to the study. Assay of vascular endothelial growth factor (VEGF) and soluble VEGF receptor-2 (sVEGFR-2) in blood serum and tears was done for all patients and controls using enzyme-linked immunosorbent assay. Retinal blood circulation was investigated with fluorescein angiography (FA) in the SSc patients only. In our research, proportion of mainly hypertensive patients presenting with a large spectrum of retinal microvascular lesions was 72%, while proportion of patients with skin microvascular lesions within distal phalanxes of fingers and toes was 76%. We noticed that patients with pathological changes in the FA examination had finger ulcerations significantly more often than patients without changes in the eye fundus. There were no statistically significant differences in the serum concentration of VEGF and sVEGFR2 between subjects in both analyzed groups. Analysis of lower levels of VEGF (p = <0.001) and sVEGFR-2 (p = <0.001) in blood serum accompanied by simultaneous higher levels of VEGF/sVEGFR-2 ratio in tears of SSc patients, as compared with the control group, indicates the superiority of proangiogenic factors in patients' tears.


Assuntos
Indutores da Angiogênese/metabolismo , Vasos Retinianos/fisiologia , Escleroderma Sistêmico/sangue , Lágrimas/metabolismo , Fator A de Crescimento do Endotélio Vascular/sangue , Receptor 2 de Fatores de Crescimento do Endotélio Vascular/sangue , Adulto , Idoso , Ensaio de Imunoadsorção Enzimática , Feminino , Angiofluoresceinografia , Humanos , Hipertensão , Inflamação , Masculino , Microcirculação , Pessoa de Meia-Idade , Neovascularização Patológica/metabolismo , Escleroderma Sistêmico/metabolismo , Pele/irrigação sanguínea
11.
Clin Anat ; 33(8): 1235-1239, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32017249

RESUMO

BACKGROUND: The extensor hallucis longus (EHL) is located in the anterior compartment of the leg, between the tibialis anterior muscle and extensor digitorum longus. The EHL is characterized by a number of morphological variations, concerning mainly the accessory bands and their insertion. The aim of our research was to evaluate the effectiveness of ultrasound in determining the anatomical variations of the EHL. METHODS: The morphology of the EHL was evaluated by ultrasound (high-frequency linear probe of Samsung RS80 apparatus) in 50 healthy volunteers. The types of EHL morphology were determined according to a threefold classification. RESULTS: Only two types of the threefold anatomical classification were observed: Type I in 76 limbs (76%) and Type IIa in 24 limbs (24%). The accessory bands of the EHL were found in 24% of cases, all of which demonstrated a course that was located medially in relation to the main tendon. CONCLUSION: Ultrasound allows for visualization of the EHL; however, the potential recognition of morphological variance is limited. LEVEL OF EVIDENCE: I - Clinical Research.


Assuntos
Perna (Membro)/diagnóstico por imagem , Tendões/diagnóstico por imagem , Adulto , Voluntários Saudáveis , Humanos , Pessoa de Meia-Idade , Ultrassonografia
12.
Int J Mol Sci ; 21(22)2020 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-33218057

RESUMO

Systemic sclerosis (SSc) is an autoimmune connective tissue disorder associated with multiple organ involvement. The aim of the study was to present two SSc patients who were diagnosed with ischemic retinopathy in both eyes. As a background to our case study, we decided to investigate the imbalance of angiogenesis factors in 25 SSc patients in relation to 25 healthy controls. Assays of matrix metalloproteinases-2 and -9 (MMP-2, MMP-9), tissue inhibitor of metalloproteinases-1 (TIMP-1) and -2 (TIMP-2), vascular endothelial growth factor (VEGF), and soluble VEGF receptor-2 (sVEGFR-2) in blood serum and tears were performed. A significantly increased levels of MMP-9 in serum and tears, (p = 0.0375 and p < 0.001, respectively) as well as VEGF/sVEGFR-2 ratio in tears (p < 0.001) were found in the whole SSc patients group compared with controls, while reduced levels of these parameters in patients with ischemic sclerodermic retinopathy were noted. We also observed decreased level MMP-2 in tears and increased levels of TIMP-2 in blood serum and tears of SSc patients with retinal ischemic changes. MMP-9, MMP-2, TIMP-2, and VEGF/sVEGFR-2 may play a crucial role in ischemic retinal degeneration or retinal reorganization in SSc.


Assuntos
Isquemia , Metaloproteinase 2 da Matriz/metabolismo , Metaloproteinase 9 da Matriz/metabolismo , Doenças Retinianas , Escleroderma Sistêmico , Inibidor Tecidual de Metaloproteinase-1/metabolismo , Inibidor Tecidual de Metaloproteinase-2/metabolismo , Fator A de Crescimento do Endotélio Vascular/metabolismo , Biomarcadores/metabolismo , Feminino , Humanos , Isquemia/complicações , Isquemia/metabolismo , Isquemia/patologia , Pessoa de Meia-Idade , Doenças Retinianas/complicações , Doenças Retinianas/metabolismo , Doenças Retinianas/patologia , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/metabolismo , Escleroderma Sistêmico/patologia
13.
Foot Ankle Surg ; 26(3): 308-313, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31031151

RESUMO

BACKGROUND: Although the lateral compartment of the leg is characterized by a high degree of morphological variation, very little information exists on the morphological variability of the fibularis brevis muscle (FBM) and fibularis digiti quinti (FDQ). The main aim of the study was to characterize the morphology of the FBM tendon and its accessory bands, to classify them and to determine the incidence of FDQ. The work attempts to determine the relationship between the types of the insertion of the FBM tendon and the occurrence of FDQ. METHODS: Classical anatomical dissection was performed on 102 lower limbs fixed in 10% formalin solution. The morphology of the insertion of the FBM and of the FDQ was evaluated. RESULTS: The FBM was present in all specimens. Two types of insertion were observed, the most common being Type I (70.6%): a single distal attachment in which the tendon inserts into the tuberosity at the base of the fifth metatarsal bone. The second most common was Type II (29.4%); this group was divided into three subtypes (A-C). The FDQ was present in 17.7% of specimens and always with Type I FBM. CONCLUSION: Both the FBM tendon and FDQ present significant morphological variation. Two main types of the FBM tendon determine the presence of the FDQ. LEVEL OF EVIDENCE: II Basic Science Research.


Assuntos
Articulação do Tornozelo/anatomia & histologia , Ossos do Metatarso/anatomia & histologia , Músculo Esquelético/anatomia & histologia , Tendões/anatomia & histologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Cadáver , Endoscópios , Humanos , Pessoa de Meia-Idade
14.
Am J Med Genet A ; 179(4): 534-541, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30740902

RESUMO

Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3, and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases. The genetic changes involved in the etiology of the remaining cases are still unknown, suggesting that other genes contribute to MED development. Our goal was to identify a mutation causing an autosomal dominant form of MED in a large multigenerational family. Initially, we excluded all genes known to be associated with autosomal dominant MED by using microsatellite and SNP markers. Follow-up with whole-exome sequencing analysis revealed a mutation c.2032G>A (p.Gly678Arg) in the COL2A1 gene (NCBI Reference Sequence: NM_001844.4), which co-segregated with the disease phenotype in this family, manifested by severe hip dysplasia and osteoarthritis. One of the affected family members had a double-layered patella, which is frequently seen in patients with autosomal recessive MED caused by DTDST mutations and sporadically in the dominant form of MED caused by COL9A2 defect.


Assuntos
Colágeno Tipo II/genética , Sequenciamento do Exoma/métodos , Éxons/genética , Mutação , Osteocondrodisplasias/genética , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Adulto Jovem
15.
Biomed Eng Online ; 18(1): 56, 2019 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-31088563

RESUMO

BACKGROUND: In clinical diagnostics, combination of different imaging techniques is applied to assess spatial configuration of the abdominal aortic aneurysm (AAA) and deformation of its wall. As deformation of aneurysm wall is crucial parameter in assessing wall rupture, we aimed to develop and validate a Non-Invasive Vision-Based System (NIVBS) for the analysis of 3D elastic artificial abdominal aortic models. 3D-printed elastic AAA models from four patients were applied for the reconstruction of real hemodynamic. During experiments, the inlet boundary conditions included the injection volume and frequency of pulsation averaged from electrocardiography traces. NIVBS system was equipped with nine cameras placed at a constant distance to record wall movement from 360o angle and a dedicated set of artificial lights providing coherent illumination. Additionally, self-prepared algorithms for image acquisition, processing, segmentation, and contour detection were used to analyze wall deformation. Finally, the shape deformation factor was applied to evaluate aorta's deformation. Experimental results were confronted with medical data from AngioCT and 2D speckle-tracking echocardiography (2DSTE). RESULTS: Image square analyses indicated that the optimal distance between the camera's lens and the investigated object was in the range of 0.30-0.35 m. There was approximately 1.44% difference observed in aneurysm diameters between NIVBS (86.57 ± 5.86 mm) and AngioCT (87.82 ± 6.04 mm) (p = 0.7764). The accuracy of developed algorithm for the reconstruction of the AAA deformation was equal to 98.56%. Bland-Altman analysis showed that the difference between clinical data (2DSTE) and predicted wall deformation (NIVBS) for all patients was 0.00 mm (confidence interval equal to 0.12 mm) for aneurysm size, 0.01 mm (confidence interval equal to 0.13 mm) and 0.00 mm (confidence interval equal to 0.09 mm) for the anterior and posterior side, as well as 0.01 mm (confidence interval equal to 0.18 mm) and 0.01 mm (confidence interval equal to 0.11 mm) for the left and right side. The optimal range of camera's lens did not affect acquired values. CONCLUSIONS: The NIVBS with proposed algorithm that reconstructs the pressure from surrounding organs is appropriate to analyze the AAAs in water environment. Moreover, NIVBS allowed detailed quantitative analysis of aneurysm sac wall deformation.


Assuntos
Aneurisma da Aorta Abdominal/patologia , Modelos Anatômicos , Algoritmos , Angiografia , Aneurisma da Aorta Abdominal/diagnóstico por imagem , Elasticidade , Humanos , Imageamento Tridimensional , Impressão Tridimensional , Tomografia Computadorizada por Raios X
16.
Med Sci Monit ; 25: 7289-7294, 2019 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-31562737

RESUMO

BACKGROUND Patients with type 1 diabetes mellitus (T1DM) often develop atherosclerosis at an early age. In the subclinical stage of the process, minimal/non-morphological changes can be noticed, but the arterial wall function can be impaired. Applanation tonometry allows to assess the arterial tree stiffness; however, the Two-Dimensional Speckle Tracking (2DST) is an increasingly accepted alternative. This study evaluated arterial wall stiffness using these 2 techniques in children with T1DM. MATERIAL AND METHODS We performed applanation tonometry and carotid arteries sonography with evaluation of the carotid intima-media thickness (cIMT) and use of the 2DST in 50 children with T1DM and in 50 healthy sex- and age-matched controls. We also assessed the reliability of 2DST in 10 random subjects. RESULTS Children with T1DM had increased arterial wall stiffness, which was confirmed by tonometry (PWV: p=0.0386) and 2DST (Strain: p=0.0004; Strain rate: p=0.0081). There was no significant difference in cIMT between groups (0.45±0.06 vs. 0.43±0.05, p=0.073 in children with T1DM and controls, respectively). 2DST presented good intraclass correlation coefficient between researchers and within a single researcher. CONCLUSIONS Children with T1DM presenting with subclinical stage of atherosclerosis were found to have arterial wall stiffening. The 2DST, the same as applanation tonometry, allows to recognize this condition but in a more accessible and reproducible manner.


Assuntos
Aterosclerose/diagnóstico , Artérias Carótidas/diagnóstico por imagem , Diabetes Mellitus Tipo 1/complicações , Adolescente , Aterosclerose/metabolismo , Aterosclerose/fisiopatologia , Espessura Intima-Media Carotídea , Criança , Estudos Transversais , Diabetes Mellitus Tipo 1/fisiopatologia , Feminino , Humanos , Masculino , Manometria/métodos , Análise de Onda de Pulso , Reprodutibilidade dos Testes , Ultrassonografia/métodos , Rigidez Vascular/fisiologia
17.
MAGMA ; 32(3): 381-390, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30498885

RESUMO

OBJECTIVE: The aim of the study was to evaluate feasibility of diffusion-weighted whole-body imaging with background body signal suppression (DWIBS) method in diagnosing Hodgkin lymphoma in pediatric patients and to compare it with 18F-FDG PET/CT as a gold standard. MATERIALS AND METHODS: Eleven patients (median age 14) with newly diagnosed Hodgkin lymphoma were examined with 18F-FDG PET/CT and MRI including whole-body DWIBS sequence (b = 0, 800 s/mm2), before the oncologic treatment. About 26 locations of lymphatic tissues were evaluated visually and quantitatively using ADCmean (DWIBS) and SUVmax (18F-FDG PET/CT), respectively. RESULTS: All affected lymph node regions (n = 134) diagnosed in 18F-FDG PET/CT were found with DWIBS, presenting decreased diffusion. Significant correlation was found between ADC and SUV values (R2 = - 0.37; p = 0.0001). Nevertheless, additional 33 regions were recognized only by DWIBS. They were significantly smaller than regions diagnosed by both methods. DISCUSSION: Agreement between DWIBS and 18F-FDG PET/CT for detection and staging of malignant lymphoma is high. DWIBS can be used for the evaluation of pediatric Hodgkin lymphoma.


Assuntos
Imagem de Difusão por Ressonância Magnética , Doença de Hodgkin/diagnóstico por imagem , Linfonodos/diagnóstico por imagem , Linfoma/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Imagem Corporal Total/métodos , Adolescente , Encéfalo/diagnóstico por imagem , Criança , Estudos de Viabilidade , Feminino , Fluordesoxiglucose F18 , Humanos , Masculino , Estadiamento de Neoplasias
18.
BMC Musculoskelet Disord ; 20(1): 310, 2019 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-31266496

RESUMO

BACKGROUND: Morphological variations of the EHL concern mainly the accessory tendons and the site of their insertion. The aim of our study is to present a new classification of the EHL. METHODS: Classical anatomical dissection was performed on 104 lower limbs (51 right, 53 left, fixed in 10% formalin solution). RESULTS: In the cadavers, three types of morphology (insertion and addidtional band) were observed. Type I, the most common type, was characterized by a single tendon that ends as an extensor hood on the dorsal aspect of the base of the distal phalanx of the big toe (57.7%). Type II was characterized by two distal tendons and was subdivided into three subtypes according to (A-29.9%, B-4.8% and C-5.7%). Type III was characterised by three distal tendons (two cases - 1.9%). CONCLUSION: The EHL presents high morphological variability. Knowledge of particular types of insertion is essential for both clinicians and anatomists.


Assuntos
Variação Anatômica , Músculo Esquelético/anatomia & histologia , Tendões/anatomia & histologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Cadáver , Dissecação , Feminino , , Humanos , Masculino , Pessoa de Meia-Idade
19.
Cardiol Young ; 29(5): 695-696, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31036103

RESUMO

A 6-year-old patient was diagnosed with an arteriovenous fistula in the neck region. Non-invasive three-dimensional imaging, including computed tomography and ultrasonography, was used for guidance of percutaneous closure of the fistula and evaluation of the final outcome.


Assuntos
Fístula Arteriovenosa/diagnóstico por imagem , Imagem Multimodal , Fístula Arteriovenosa/cirurgia , Cateterismo Cardíaco , Criança , Ecocardiografia Tridimensional , Humanos , Imageamento Tridimensional , Tomografia Computadorizada por Raios X
20.
Knee Surg Sports Traumatol Arthrosc ; 27(9): 2984-2993, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30535546

RESUMO

PURPOSE: The pes anserinus (PA) is characterized by high morphological diversity. As the semitendinosus and gracilis muscle tendons are routinely harvested for the reconstruction of other tendons, especially the anterior cruciate ligament (ACL), it is of clinical importance. The presence of accessory bands within PA tendons can handicap the harvesting process. Therefore, the purpose of the study was to suggest a new morphological classification of the PA morphology. METHODS: Classical anatomical dissection was performed on 102 lower limbs (56 right, 46 left) fixed in 10% formalin solution. The morphology and insertion of the PA (including accessory bands) were assessed, and morphometric measurements were taken. RESULTS: In all cases, the PA was present and composed of the sartorius, gracilis and semitendinosus tendons. Six types of PA were distinguished based on the presence of accessory bands. The most common composed of monotendinous sartorius, gracilis and semitendinosus-54 limbs (52.9%). Additionally, three types of insertion were noted (short, band-shaped and fan-shaped). The mean length between the insertion and the origin of the accessory bands to the fascia of the gastrocnemius muscle was 63.5 mm. CONCLUSION: The morphology of the PA was highly variable. The gracilis and semitendinosus tendons often had accessory bands that would complicate the harvesting process. The planning of surgical procedures may be improved by our proposed classification.


Assuntos
Músculos Isquiossurais/anatomia & histologia , Tendões dos Músculos Isquiotibiais/anatomia & histologia , Tendões/anatomia & histologia , Tendões/transplante , Adulto , Idoso , Idoso de 80 Anos ou mais , Ligamento Cruzado Anterior/anatomia & histologia , Cadáver , Feminino , Músculo Grácil/anatomia & histologia , Humanos , Joelho/anatomia & histologia , Extremidade Inferior/anatomia & histologia , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/anatomia & histologia , Coxa da Perna/anatomia & histologia
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