RESUMEN

The goal of this manuscript is to present and summarize several rare pediatric syndromes (Zellweger syndrome, Kartagener syndrome, Prader-Willi syndrome, Schinzel-Giedion syndrome, Fanconi anemia, Joubert-Boltshauser syndrome, Poretti-Boltshauser syndrome, and Langer-Giedion syndrome) who have been named after luminary "Swiss" physicians (pediatricians, pediatric neurologists, or pediatric radiologists) who recognized, studied, and published these syndromes. In this manuscript, a brief historical summary of the physicians is combined with the key clinical symptoms at presentation and the typical imaging findings. This manuscript is not aiming to give a complete comprehensive summary of the syndromes, nor does it ignore the valuable contributions of many "Swiss" scientists who are not included here, but focuses on several rare syndromes that benefit from imaging data.

RESUMEN

Background and Purpose: The Langer Mindfulness Scale (LMS) is distinguished from other mindfulness scales by its dimensions, which are closely related to the awareness and experience of novelty, and by being a scale derived from a cognitive perspective of information processing. There are no mindfulness instruments of this type available in Brazil. Therefore, this study aimed to carry out a translation and cultural adaptation of the LMS into Brazilian Portuguese and to validate and assess the internal consistency and convergent construct validity of the translated instrument. Methods: The study had two distinct stages: (a) translation and cultural adaptation of the LMS into Brazilian Portuguese and (b) validation of the adapted instrument using a sample of 543 participants. Results: The Brazilian version of the LMS demonstrated acceptable internal consistency, with confirmatory factor analysis supporting the original four-factor model. Correlations between LMS, and the Five Facets of Mindfulness Questionnaire and the Mindfulness Attention Awareness Scale were statistically significant and in the expected directions. Conclusions: Our findings suggest that the Brazilian version of LMS, with its four dimensions, presents acceptable psychometric properties and seems to be a reliable and valid instrument for assessing the state of mindfulness in a Brazilian cultural context.

Asunto(s)

RESUMEN

In vivo skin exhibits viscoelastic, hyper-elastic and non-linear characteristics. It is under a constant state of non-equibiaxial tension in its natural configuration and is reinforced with oriented collagen fibers, which gives rise to anisotropic behaviour. Understanding the complex mechanical behaviour of skin has relevance across many sectors including pharmaceuticals, cosmetics and surgery. However, there is a dearth of quality data characterizing the anisotropy of human skin in vivo. The data available in the literature is usually confined to limited population groups and/or limited angular resolution. Here, we used the speed of elastic waves travelling through the skin to obtain measurements from 78 volunteers ranging in age from 3 to 93 years old. Using a Bayesian framework allowed us to analyse the effect that age, gender and level of skin tension have on the skin anisotropy and stiffness. First, we propose a new measurement of anisotropy based on the eccentricity of angular data and conclude that it is a more robust measurement when compared to the classic "anisotropic ratio". Our analysis then concluded that in vivo skin anisotropy increases logarithmically with age, while the skin stiffness increases linearly along the direction of Langer Lines. We also concluded that the gender does not significantly affect the level of skin anisotropy, but it does affect the overall stiffness, with males having stiffer skin on average. Finally, we found that the level of skin tension significantly affects both the anisotropy and stiffness measurements employed here. This indicates that elastic wave measurements may have promising applications in the determination of in vivo skin tension. In contrast to earlier studies, these results represent a comprehensive assessment of the variation of skin anisotropy with age and gender using a sizeable dataset and robust modern statistical analysis. This data has implications for the planning of surgical procedures and questions the adoption of universal cosmetic surgery practices for very young or elderly patients.

Asunto(s)

RESUMEN

Human skin is a soft tissue behaving as an anisotropic material. The anisotropy emerges from the alignment of collagen fibers in the dermis, which causes the skin to exhibit greater stiffness in a certain direction, known as Langer's line. The importance of determining this anisotropy axis lies in assisting surgeons in making incisions that do not produce undesirable scars. In this paper, we introduce an open-source numerical framework, MARSAC (Multi-Axial Ring Suction for Anisotropy Characterization: https://github.com/aflahelouneg/MARSAC), adapted to a commercial device CutiScan CS 100® that applies a suction load on an annular section, causing a multi-axial stretch in the central zone, where in-plane displacements are captured by a camera. The presented framework receives inputs from a video file and converts them into displacement fields through Digital Image Correlation (DIC) technique. From the latter and based on an analytical model, the method assesses the anisotropic material parameters of human skin: Langer's line ϕ, and the elastic moduli E1 and E2 along the principal axes, providing that the Poisson's ratio is fixed. The pipeline was applied to a public data repository, https://search-data.ubfc.fr/femto/FR-18008901306731-2021-08-25_In-vivo-skin-anisotropy-dataset-for-a-young-man.html, containing 30 test series performed on a forearm of a Caucasian subject. As a result, the identified parameter averages, ϕˆ=40.9±8.2∘ and the anisotropy ratio E1ˆ/E2ˆ=3.14±1.60, were in accordance with the literature. The intra-subject analysis showed a reliable assessment of ϕ and E2. As skin anisotropy varies from site to site and from subject to subject, the novelty of the method consists in (i) an optimal utilization of CutiScan CS 100® probe to measure the Langer's line accurately and rapidly on small areas with a minimum diameter of 14mm, (ii) validation of an analytical model based on deformation ellipticity.

Asunto(s)

RESUMEN

Research studies have established that mindfulness helps in psychological well-being, stress reduction, chronic pain management, behavioral therapy, and other areas including organizational development. Mindfulness often refers to a state of consciousness, but mindfulness can also be understood as a personality trait. State mindfulness is referred as the individual's capacity to cultivate a particular state of mind during meditative practice. Traits are more permanent facets of personality characteristics that are difficult to change and likely have some basis in genetics. Few scholars have criticized meditative mindfulness as a trend and cautioned that organizations should carefully consider their goals before introducing meditative mindfulness training. This dichotomy has prompted us to review the literature and carry out a comparative analysis of two divergent measurement scales of mindfulness: the Mindful Attention Awareness Scale (MAAS) and Langer's mindfulness/mindlessness scale. The MAAS is the most widely used mindfulness scale to measure mindfulness, and Langer's scale measures mindfulness/mindlessness. We developed hypotheses relating Langer's scale and the MAAS. Further, we studied whether there is any difference in mindfulness/mindlessness among business school students with an undergraduate background in engineering and nonengineering streams. Using a self-administered questionnaire, we measured the mindfulness levels of 221 MBA first- and second-year graduates and tested the hypothesis using partial least squares structural equations modeling (PLS-SEM). We found that Langer's mindfulness/mindlessness scale was negatively associated with the MAAS. We did not find any effect of gender, education, and professional specializations on mindfulness.

RESUMEN

Ultrasound as a diagnostic tool in thoracic outlet syndrome (TOS) is becoming increasingly important. The aim of this study was to investigate the diagnostic value of ultrasound in detecting the axillary arch, an ancillary muscle potentially causing TOS. Two hundred upper limbs of 100 fresh, non-frozen, non-embalmed body donors were screened for axillary arches. Sonographic findings were validated by anatomic dissection. Twelve axillary arches were found in 200 upper extremities, corresponding to a prevalence of 8.0% per individual and 6.0% per upper extremity investigated. Ultrasound had low diagnostic performance in identifying axillary arches, with a sensitivity of 66.7% and specificity of 95.7%. There was a tendency to identify more easily arches consisting of purely muscle tissue. Axillary arch thickness, its cross-sectional area and the predominant tissue type were associated with compression of the neurovascular bundle during shoulder elevation. Ultrasound seems to have limited potential to identify axillary arches. However, arches consisting predominantly of muscle tissue may be identified more easily and were associated with compression of neurovascular structures, thus potentially causing symptoms. Further clinical trials are needed to clarify the true value of ultrasound in patients with symptoms of TOS.

Asunto(s)

RESUMEN

INTRODUCTION: Langer's axillary arch (AA), the most common anatomical variant in the axillary area of definite clinical significance. This is an updated review of the reported variations in the structure, highlighting its morphological diversity and its potential in complicating axillary lymph node biopsy, lymphadenectomy, or breast reconstruction. METHODS: A review of the literature concerning the AA published between 1812 and 2020 was performed using the PubMed, Scopus, Embase, and Cochrane medical databases. The frequency, laterality, morphology, origin, lateral attachment points, vascularization, and neurosis of the AA were the parameters retrieved from the collected data. RESULTS: The prevalence of AA ranged from 0.8% to 37.5%. It is more often unilateral, muscular in nature, and extending from the latissimus dorsi to the pectoralis major. It is vascularized by the lateral thoracic vessels or the subscapular artery and innervated by the thoracodorsal nerve. CONCLUSIONS: Langer's AA, when present, may complicate surgical procedures in the area; therefore, every surgeon performing breast or axillary surgery should be aware of this entity and its variations to ensure maximal effectiveness and safety in the management of patients.

Asunto(s)

RESUMEN

Langer-Giedion syndrome (LGS) is caused by a contiguous deletion at 8q23q24, characterized by exostoses, facial, ectodermal, and skeletal anomalies, and, occasionally, intellectual disability. LGS patients have been diagnosed clinically or by routine cytogenetic techniques, hampering the definition of an accurate genotype-phenotype correlation for the syndrome. We report two unrelated patients with 8q23q24 deletions, characterized by cytogenomic techniques, with one of them, to our knowledge, carrying the smallest deletion reported in classic LGS cases. We assessed the pathogenicity of the deletion of genes within the 8q23q24 region and reviewed other molecularly confirmed cases from the literature. Our findings suggest a 3.2-Mb critical region for a typical presentation of the syndrome, emphasizing the contribution of the TRPS1, RAD21, and EXT1 genes' haploinsufficiency, and facial dysmorphisms as well as bone anomalies as the most frequent features among patients with LGS. We also suggest a possible role for the CSMD3 gene, whose deletion seems to contribute to central nervous system anomalies. Since studies performing such correlation for LGS patients are limited, our data contribute to improving the ge-notype-phenotype characterization for LGS patients.

Asunto(s)

RESUMEN

OBJECTIVE: The Carl Langer muscle is the main anatomical variation of the walls of the axillary area, its incidence being about 7%. The presence of this muscle crossing the anterior edge of the axillary vessels can induce difficulties of exposure, location and dissection during axillary surgery. In addition, it may be responsible for primary lymphedema of the upper limb, venous thrombosis of the axillary vein or thoracic outlet syndrome due to vascular or nervous compression. The objective of this work was to evaluate the state of knowledge on Carl Langer muscle of the gynecology-obstetrics medical residents of the French Eastern Region. MATERIAL AND METHODS: All the medical residents enrolled in the specialized diploma in gynecology-obstetrics in the 5 regions (Alsace, Bourgogne, Lorraine, Champagne-Ardenne and Franche-Comté) were questioned by means of a questionnaire sent by e-mail. RESULTS: From February to March 2021, 94 of the 160 medical residents interviewed answered to the questionnaire. Ninety-one of them (97%) did not know Carl Langer's muscle. Three medical residents thought they knew this muscle (3%) but their knowledge was imperfect. CONCLUSION: Our work has highlighted the general lack of knowledge of this anatomical variation, which is relatively frequent, among French gynecology-obstetrics medical residents who are required to examine or perform surgery on this area. This updated review of the literature should optimize the knowledge of the anatomy of the axillary area and consequently its surgery.

Asunto(s)

RESUMEN

INTRODUCTION: Internal fixation of displaced middle-third clavicle fractures is a widely used treatment but is frequently associated with post-operative complications. The aim of this study is to investigate whether or not using a skin incision along Langer's lines, as opposed to a traditional transverse incision, reduces complications. METHODS: We retrospectively reviewed data on 108 patients who underwent open reduction and internal fixation of mid-shaft clavicle fractures between 2014 and 2018. Either an oblique incision along Langer's lines or a transverse incision was used according to surgeon's preference. A pre-contoured diaphyseal locking plate was used in all cases. We collected data on fracture classification, minor complications (irritation from plate, chest wall numbness, superficial wound infection) and major complications (irritation from plate necessitating metalwork removal, periprosthetic fracture, deep infection, neurovascular injury and non-union). Statistical analysis was performed using multivariant regression analysis and Fisher's exact tests. RESULTS: Fifty-seven patients underwent fixation using the oblique incision and 51 via the transverse incision. Age, gender and fracture pattern in the two groups were comparable. There were 14 minor and 6 major complications in the oblique group. In the transverse group, there were 16 minor and 5 major complications. The major complication rate was 10.5% in the oblique group and 9.8% in the transverse group. The overall major complication rate was 10.2%. No statistically significant difference in the rate of complications between the two groups was identified. CONCLUSION: Based on our data, an incision following Langer's lines does not reduce the rate of complications following fixation of displaced middle-third clavicle fractures.

Asunto(s)

RESUMEN

After surgery, around 35% of patients experience problems of excessive scarring, causing disfiguring and impaired function. An incision placed in the wrong direction causes unnecessary skin tension on the wound, resulting in increased collagen disposition and potentially hypertrophic scars. Currently, skin tension lines are used for incision planning. However, these lines are not universal and are a static representation of the skin tension that is in fact under influence of muscle action. By designing a new skin force measurement device the authors intend to make research on dynamic skin characteristics possible and to objectify incision planning and excision closure planning. The device applies a known compressive force to the skin in standardized directions and measures the displacement of the skin. This allows users to measure the skin reaction force in response to compression and to determine the optimal incision line or best wound closure direction. The device has an accuracy of 96% and a sensitivity of < 0.01 mm. It is compact, works non-invasively and standardizes measurement directions and is therefore an improvement over previously designed skin tensiometers.

Asunto(s)

RESUMEN

PURPOSE: Proper understanding of skin biomechanics, viscoelasticity and investigation of skin tension vectors is necessary to find optimal incision lines. Great tension across a healing wound after any surgical procedure might lead to forming hypertrophic scars. The aim of the study was to investigate tension lines in volar forearm skin in young males and females, in order to ensure best incision line. METHODS: Five biomechanical and viscoelastic parameters were measured using a hand-held myotonometer: Oscillation Frequency [Hz], Dynamic Stiffness [N/m], Logarithmic Decrement of tissue's natural oscillation, Mechanical Stress Relaxation Time [ms], and Creep. Measurements were taken in four different directions; Along Forearm, Across Forearm, Along Langer's Line and Across Langer's Line. RESULTS: Significant main effects for direction were found for Oscillation Frequency (p < 0.001, η2 = 0.371) [Hz], Dynamic Stiffness (p < 0.001, η2 = 0.522) [N/m], Logarithmic Decrement (p < 0.001, η2 = 0.083), Mechanical Stress Relaxation Time (p < 0.001, η2 = 0.494) [ms] and Creep (p < 0.001, η2 = 0.480). For each parameter except for logarithmic decrement results obtained Along Langers Line and Across Forearm were significantly different to Across Langers Line and Along Forearm (p < 0.001, d = -2.76 - 2.66). Significant main effects for sex were found for logarithmic decrement Along Forearm (p < 0.001, d = 1.698) and Across Langer's Line (p = 0.021, d = 1.697). CONCLUSIONS: Our results suggested that optimal incision line for this age group in males and females could potentially be performed diagonally i.e. Across Langer's Line or parallel i.e. Along Forearm to forearm axis. These directions would provide the lowest tension across a healing wound and possibly minimalize the risk of hypertrophic scarring post incision.

Asunto(s)

RESUMEN

Introducción. El arco de Langer es una entidad infrecuente, cuya prevalencia depende de la técnica quirúrgica utilizada y usualmente no se asocia con síntomas de compresión vascular o neuronal. El objetivo de este estudio fue describir las características clínicas y morfológicas, y la proporción de síntomas de compresión neurovascular del arco de Langer, en mujeres con cáncer de mama llevadas a cirugía axilar. Métodos. Estudio descriptivo del arco de Langer en mujeres con cáncer de mama, llevadas a cirugía axilar en el registro personal de un cirujano, en Medellín, Colombia, entre el 1 enero de 2017 y el 15 agosto de 2020. Se evaluaron características clínicas, morfológicas y síntomas de compresión neurovascular. Las variables categóricas se agruparon según su frecuencia como porcentajes, y para las variables continuas se calculó la mediana y su rango intercuartílico. Resultados. Entre el 1 enero de 2017 y el 15 agosto de 2020 se realizaron 725 cirugías axilares, 479 biopsias de ganglio centinela y 246 linfadenectomías, encontrando 17 casos de arco de Langer, para una frecuencia de 2,3 %. Fue más frecuente encontrarlo en el curso de una linfadenectomía (n=11, 64,7 %). En 15 (88,2 %) casos se presentó riesgo de ocultamiento ganglionar y en 14 (82,3 %) generó dificultad quirúrgica. No hubo casos con síntomas de compresión vascular o neuronal. En ningún caso se realizó el diagnostico imagenológico prequirúrgico. La conducta quirúrgica predominante fue sección, en 88,2 %, sin presentar complicaciones quirúrgicas asociadas. Discusión. Es importante para el cirujano el conocimiento del arco axilar como una variante anatómica de la axila, que puede ocultar los ganglios o dificultar la disección axilar, por lo que la conducta más usada es la sección

Introduction. Langer's arch is an infrequent entity, the prevalence of which depends on the surgical technique used and is usually not associated with symptoms of vascular or neuronal compression. The objective of this study was to describe the clinical and morphological characteristics, and the proportion of symptoms of neurovascular compression of Langer's arch, in women with breast cancer who underwent axillary surgery.Methods. Descriptive study of Langer's arch in women with breast cancer, who underwent axillary surgery in the personal registry of a surgeon, in Medellín, Colombia, between January 1, 2017 and August 15, 2020. Clinical, morphological and clinical characteristics were evaluated for symptoms of neurovascular compression. Categorical variables were grouped according to their frequency as percentages, and the median and interquartile range were calculated for continuous variables.Results. Between January 1, 2017 and August 15, 2020, 725 axillary surgeries, 479 sentinel node biopsies, and 246 lymphadenectomies were performed, finding 17 cases of Langer's arch, for a frequency of 2.3%. It was more frequently found in the course of lymphadenectomy (n= 11; 64.7%). In 15 (88.2%) cases there was a risk of lymph node concealment and in 14 (82.3%) it generated surgical difficulty. There were no cases with symptoms of vas-cular or neuronal compression. In no case was the pre-surgical imaging diagnosis made. The predominant surgical approach was section, in 88.2%, without presenting associated surgical complications.Discussion. Knowledge of the axillary arch as an anatomical variant of the axilla is important for the surgeon, which can hide the lymph nodes or make axillary dissection difficult, so the most commonly used approach is to cut it

Asunto(s)

RESUMEN

Langer's arch (LA), although rare, is an important anatomical anomaly in the axilla that may be encountered during axillary lymph node dissection (ALND). Failure to recognize this anomaly may cause disorientation during ALND, resulting in inadequate clearance, with implications for local disease recurrence and inaccurate staging. Here, we present a case that highlights the confusion LA can cause even in experienced surgeons. With indications for ALND decreasing, resulting in lower operative numbers, surgeons are less likely to be exposed to this structure during their training. Improving knowledge and understanding of LA is important to ensure breast surgeons' preparedness for axillary surgery.

Asunto(s)

RESUMEN

The axillary arch is a variant slip extending between the latissimus dorsi muscle and the pectoralis major. During educational dissection, a variant muscle was found in left arm of 70-year-old female cadaver. A slip muscle originated from the lateral margin of the latissimus dorsi and crossed the axilla obliquely. Therefore, we defined this muscular variation as axillary arch. It ran anterior (superficial) to the medial and lateral cords of the brachial plexus, and then it inserted to coracoid process. We reported this variant muscle and discussed its clinical significances.

El arco axilar es una variante que se extiende entre el músculo dorsal ancho y el pectoral mayor. Durante la disección educativa, se encontró una variante muscular en el brazo izquierdo de un cadáver de una mujer de 70 años. El músculo deslizante se originó en el borde lateral del dorsal ancho y cruzó la axila oblicuamente. Por lo tanto, definimos esta variación muscular como el arco axilar. Se extendió anterior (superficial) a los cordones medial y lateral del plexo braquial, y luego se insertó en el proceso coracoideo. Reportamos esta variante muscular y discutimos sus significados clínicas.

Asunto(s)

RESUMEN

Langer-Giedion's syndrome (LGS) or trichorhinophalangeal syndrome type II (TRPS II; MIM:150230) is a contiguous gene deletion syndrome caused by the haploinsufficiency of the TRPS1 and EXT1 genes. Cornelia de Lange's syndrome (CdLS) is a genetically heterogeneous dysmorphic syndrome where heterozygous mutations of RAD21 gene have been associated with a mild clinical presentation (CDLS type 4; MIM: 614701). We report a female patient with a 2.3-Mb interstitial deletion at 8q23.3-q24.1 encompassing EXT1 and RAD21 genes but not TRPS1 . Clinical findings in this patient are correlated with a mixed phenotype of LGS and CdLS type 4.

RESUMEN

The purpose of this work has been to determine differences in biomechanical properties of porcine skin from organic and non-organic farming as porcine skin is widely used as a model for human skin. A test apparatus was used, using gravity to stretch and finally tear a dumbbell-shaped specimen of prepared abdominal skin with a testing surface area of 25 × 4 mm. A total of 32 specimens were taken from seven individual pigs, three from organic and four from non-organic farming, in different orientations with respect to the Langer's lines. The tests were performed at a dynamic speed of around 1.66 m/s (corresponding to a nominal strain rate of 67 s-1). Engineering strain at rupture was higher in pig skin from non-organic farming with values up to 321% as opposed to 90% in organic pig skin. The maximum tensile stress found in non-organic pig skin was lower than in pig skin from organic farming with maximum values of 34 MPa as opposed to 58 MPa. The reason for the difference in biomechanical properties is unclear; the effect of sunlight is discussed as well as other factors like age and exercise. It seems that the biomechanical properties of porcine skin from organic farming are more similar to those of human skin.

Asunto(s)

RESUMEN

BACKGROUND AND OBJECTIVES: Latissimus dorsi, an anatomical landmark for axillary lymph node dissection, was reported to harbor an anatomical variation named Langer's axillary arch (LAA). However, the incidence and clinical significance of LAA in breast cancer remain obscure. METHODS: We conducted a six-year prospective study, including 1724 breast cancer patients in Qilu hospital between January 2012 to February 2018. All patients received ALND were inspected for existence of LAA. All the surgeries were completed with the involvement of same experienced surgeon. Once the LAA was identified, all the lymph nodes located lateral to it, named LAA's lymph node, were dissected and collected for pathologic examination. RESULTS: Among 1724 breast cancer patients, LAA was identified in 132 patients (7.66%). 120 out of the 132 patients (90.91%) had at least two LAA's lymph nodes. 21 out of 120 patients (17.50%) were confirmed with cancer cell metastasis in LAA's lymph nodes. Among the 23 patients received sentinel lymph node tracing, sentinel lymph node was located lateral to LAA in 3 patients (13.04%). CONCLUSIONS: Our results indicated that it is of great importance for surgeons to correctly ascertain LAA, and it should be taken as a nonnegligible parts during ALND or SLNB.

Asunto(s)

RESUMEN

We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS.

Asunto(s)

RESUMEN

PURPOSE: The following research aimed to investigate the prevalence and anatomical features of the axillary arch (AA) - a muscular, tendinous or musculotendinous slip arising from the latissimus dorsi and that terminates in various structures around the shoulder girdle. The AA may complicate axillary lymph node biopsy or breast reconstruction surgery and may cause thoracic outlet syndrome. METHODS: Major electronic databases were thoroughly searched for studies on the AA and its variations. Data regarding the prevalence, morphology, laterality, origin, insertion and innervation of the AA was extracted and included in this meta-analysis. The AQUA tool was used in order to assess potential risk of bias within the included studies. RESULTS: The AA was reported in 29 studies (10,222 axillas), and its pooled prevalence estimate in this meta-analysis was found to be 5.3% of the axillas: unilaterally (61.6%) and bilaterally (38.4%). It was predominantly muscular (55.1% of the patients with the AA), originated from the latissimus dorsi muscle or tendon (87.3% of the patients with the AA), inserted into the pectoralis major muscle or fascia (35.2% of the patients with the AA), and was most commonly innervated by the thoracodorsal nerve (39.9% of the patients with the AA). CONCLUSION: The AA is a relatively common variant, hence it should not be neglected. Oncologists and surgeons should consider this variant while diagnosing an unknown palpable mass in the axilla, as the arch might mimic a neoplasm or enlarged lymph nodes.

Asunto(s)