Variations in Foramen Transversarium in Typical Cervical Vertebra / Variaciones del Foramen transverso en una Vértebra Cervical Típica

SUMMARY: In literature were described variations in foramen transversarium in cervical vertebrae, as well as their clinical importance, and the information about them boils down to the individual case reports or population morphological studies. The aim of this paper is to contribute to the knowledge of morphological characteristics of the transverse openings on vertebrae of the cervical region. The study was performed on 60 typical vertebrae that are part of the collection of the Department of Anatomy in Nis. The characteristics of permanent openings were measured and accessory foramina were recorded. It was found that the diameter of the openings on the left side was 5.595±0.92 x 5.390±1.507 mm, and on the right 5.766±1.201 x 6.101±1.401 mm. Unilateral completely separated accessory foramina were recorded in 10.17 % of cases, dominant on the left side, and incompletely separated cases in 5.09 %. The research has demonstrated a relatively high incidence of accessory foramina and deviations from circular shaped openings.

En la literatura se describen variaciones en el foramen transverso de las vértebras cervicales, así como su importancia clínica, y la información sobre ellas se reduce a informes de casos individuales o estudios morfológicos poblacionales. El objetivo de este trabajo fue contribuir al conocimiento de las características morfológicas de los forámenes transversos de las vértebras cervicales. El estudio se realizó en 60 vértebras típicas que forman parte de la colección del Departamento de Anatomía de Nis. Se midieron las características de los forámenes constantes y se registraron los forámenes accesorios. Se encontró que el diámetro de los forámenes del lado izquierdo era de 5,595±0,92 x 5,390±1,507 mm, y del derecho de 5,766±1,201 x 6,101±1,401 mm. Se registraron forámenes accesorios unilaterales completamente separados en el 10,17 % de los casos, dominantes en el lado izquierdo y casos incompletamente separados en el 5,09 %. La investigación ha demostrado una incidencia relativamente alta de forámenes accesorios y desviaciones de forma circular.

Complex Variations in Branches of the Axillary Artery / Variaciones Complejas en Ramas de la Arteria Axilar

SUMMARY: The axillary artery is a continuation of the subclavian artery and transitions into the brachial artery. Variations in the axillary artery are not uncommon. During the upper-limb dissection of a 95-year-old Korean female cadaver, assorted anatomical variations of the axillary artery branches were identified. On the right side, no branches emerged from the first part of the axillary artery. The thoracoacromial artery (excluding the pectoral branch) and the common subscapular trunk arose from the second part, with the common subscapular trunk giving origins to the pectoral branch, lateral thoracic artery, and subscapular artery. The subscapular artery is divided into the thoracodorsal artery, circumflex scapular artery, and accessory posterior circumflex humeral artery. Additionally, the superior thoracic artery arose from the lateral thoracic artery. The third part of the axillary artery gave rise to the anterior and posterior circumflex humeral arteries, accessory acromial branch, and accessory thoracodorsal artery. On the left side, the thoracoacromial artery (excluding the pectoral branch) and the superior thoracic artery arose from the first part. The common subscapular trunk arose from the second part, which included the pectoral branch, lateral thoracic artery, and subscapular artery. The subscapular artery is divided into the thoracodorsal artery, circumflex scapular artery, accessory posterior circumflex humeral artery, and accessory lateral thoracic artery. The third part gave rise to the anterior and posterior circumflex humeral arteries and the accessory acromial branch. This study presents variations of the axillary artery, emphasizing their rarity, considering their embryologic basis, and highlighting their importance not only for educational purposes but also surgical and radiological applications.

La arteria axilar es una continuación de la arteria subclavia y luego esta continua como arteria braquial. Las variaciones en la arteria axilar no son infrecuentes. Durante la disección de los miembros superiores de un cadáver de una mujer coreana de 95 años, se identificaron diversas variaciones anatómicas de las ramas de la arteria axilar. En el lado derecho no se originaban ramas de la primera parte de la arteria axilar. La arteria toracoacromial (excluyendo la rama pectoral) y el tronco subescapular común surgieron de la segunda parte, y el tronco subescapular común dio origen a la rama pectoral, la arteria torácica lateral y la arteria subescapular. La arteria subescapular se dividía en arteria toracodorsal, arteria circunfleja escapular y arteria humeral circunfleja posterior accesoria. Además, la arteria torácica superior se originaba de la arteria torácica lateral. La tercera parte de la arteria axilar dio origen a las arterias circunflejas humerales anterior y posterior, la rama acromial accesoria y la arteria toracodorsal accesoria. En el lado izquierdo, de la primera parte surgían la arteria toracoacromial (excluyendo la rama pectoral) y la arteria torácica superior. De la segunda parte se originaba el tronco subescapular común, que incluía la rama pectoral, la arteria torácica lateral y la arteria subescapular. La arteria subescapular se dividía en arteria toracodorsal, arteria circunfleja escapular, arteria circunfleja humeral posterior accesoria y arteria torácica lateral accesoria. La tercera parte daba origen a las arterias circunflejas humerales anterior y posterior y a la rama acromial accesoria. Este estudio presenta variaciones de la arteria axilar, enfatizando su rareza, considerando su base embriológica y destacando su importancia no sólo para fines educativos sino también para aplicaciones quirúrgicas y radiológicas.

Morphology and Morphometry of the Dorsal Interosseous Muscles of the Hand: Laterality and Sexual Dimorphism / Morfología y Morfometría de los Músculos Interóseos Dorsales de la Mano: Lateralidad y Dimorfismo Sexual

SUMMARY: The dorsal interosseous muscles (DIM) are intrinsic muscles of the hand located dorsally between metacarpal bones, which play a role in finger abduction. Anatomical variations of these muscles in terms of form and length have been well documented, but variations regarding sex and laterality are underexplored. The aim of this study was to investigate the morphology and morphometry of the DIM of the hand regarding sexual dimorphism and laterality. Twenty human cadavers belonging to the white individuals (n = 40 hands) with known sex and laterality were used for this study. DIMs were dissected and observed for morphology. Also, a digital calliper was used to measure the midpoint length of the DIM. The origin and insertion of all the DIM were normal with the left hand having no additional, supernumerary, and absent muscles in each compartment. The variations were only found on the right side and predominant in females: 2 out of 11 (18.18%) hands containing a space with a supernumerary muscle; 1 out of 11 (9.09%) hands having a space with a double muscle; and 1 out of 11 (9.09%) hands having a compartment with a unipennate muscle. In males, 1 out of 9 (11.11%) hands had a compartment with a supernumerary muscle. The mean midpoint length of each muscle in females and males in both hands from the first to the fourth muscle, respectively, was documented. In females on the left: 46.79 ± 3.56; 42.62 ± 3.57; 49.02 ± 4.21; 41.66 ± 2.15 and right: 47.30 ± 2.49; 39.27 ± 4.14; 45.69 ± 4.64; 38.12 ± 4.08. In males, it was on the left: 50.01 ± 3.95; 41.98 ± 3.79; 47.90 ± 4.83; 41.79 ± 4.25, and on the right: 46.65 ± 2.09; 39.01 ± 4.25; 47.47 ± 3.41; 38.31 ± 4.40. The mean midpoint length of the DIM was relatively higher on the left hand compared to the right hand in both females and males. In this study, variations regarding the supernumerary muscle, double interosseous space, and unipennate muscles were only observed on the right-hand side and predominantly in females, an insight that may guide in the treatment of fractures, stiffness of the hand, and compartment syndromes.

Los músculos interóseos dorsales (DIM) son músculos intrínsecos de la mano ubicados dorsalmente entre los huesos metacarpianos, que desempeñan un papel en la abducción de los dedos. Las variaciones anatómicas de estos músculos en términos de forma y longitud están bien documentadas, pero las variaciones con respecto al sexo y la lateralidad están poco exploradas. El objetivo de este estudio fue investigar la morfología y morfometría de los DIM de la mano con respecto al dimorfismo sexual y la lateralidad. Para este estudio se utilizaron veinte cadáveres humanos pertenecientes a individuos blancos (n = 40 manos) con sexo y lateralidad conocidos. Los DIM se diseccionaron y observaron para determinar su morfología. Además, se utilizó un calibrador digital para medir la longitud del punto medio del DIM. El origen y la inserción de todos los DIM fueron normales y la mano izquierda no tenía músculos adicionales, supernumerarios y ausentes en cada compartimento. Las variaciones se encontraron sólo en el lado derecho y predominaron en el sexo femenino: 2 de 11 (18,18%) manos contenían un espacio con un músculo supernumerario; 1 de cada 11 (9,09%) manos presentando un espacio con doble músculo; y 1 de cada 11 (9,09%) manos presentaba un compartimento con músculo unipenate. En los hombres, 1 de cada 9 (11.11%) manos tenía un compartimento con un músculo supernumerario. Se documentó la longitud media del punto medio de cada músculo en mujeres y hombres en ambas manos desde el primer al cuarto músculo, respectivamente. En mujeres de izquierda: 46,79 ± 3,56; 42,62 ± 3,57; 49,02 ± 4,21; 41,66 ± 2,15 y derecha: 47,30 ± 2,49; 39,27 ± 4,14; 45,69 ± 4,64; 38,12 ± 4,08. En los varones fue hacia la izquierda: 50,01 ± 3,95; 41,98 ± 3,79; 47,90 ± 4,83; 41,79 ± 4,25, y a la derecha: 46,65 ± 2,09; 39,01 ± 4,25; 47,47 ± 3,41; 38,31 ± 4,40. La longitud media del punto medio del DIM fue relativamente mayor en la mano izquierda en comparación con la derecha tanto en mujeres como en hombres. En este estudio, las variaciones con respecto al músculo supernumerario, el doble espacio interóseo y los músculos unipennados sólo se observaron en el lado derecho y predominantemente en el sexo femenino, un conocimiento que puede guiar en el tratamiento de fracturas, rigidez de la mano y síndromes compartimentales.

Genética del TDAH en la práctica clínica / Genetics of ADHD in clinical practice

Resumen El trastorno por déficit de atención/hiperactividad (TDAH) es un trastorno del neurodesarrollo complejo y heterogéneo desde una perspectiva causal, clínica y pro nóstica. La investigación refleja su carácter multifactorial con un papel destacado de los factores genéticos. Los estudios poblacionales han señalado históricamente la implicación de numerosas variantes genéticas de escaso tamaño de efecto, las cuales por sí mismas apenas incre mentan el riesgo de TDAH y difícilmente justifican su ele vada heredabilidad. Muchas de ellas están presentes en más del 60% de la población general, lo que sugiere su pa pel modulador más que causal. No obstante, gracias a la irrupción de nuevas técnicas genéticas en los últimos 15 años, se están identificando un mayor número de casos con trastornos genéticos (muchos de ellos monogénicos), cuyas variantes genéticas explican por sí mismas la presencia del TDAH. El estudio detallado de los antecedentes personales y familiares, así como una exploración física completa, puede ayudar a identificar algunos de ellos. La identificación de la causa en este conjunto de casos tiene un valor crucial en el asesoramiento clínico, el consejo genético-familiar y la anticipación pronóstica, así como en la realización o evitación de estudios complementarios y en el diseño del plan terapéutico.

Abstract Attention-deficit/hyperactivity disorder (ADHD) is a complex and heterogeneous neurodevelopmental disor der from a causal, clinical and prognostic perspective. Research reflects its multifactorial nature with a promi nent role of genetic factors. Population studies have historically pointed to the involvement of numerous genetic variants of small effect size, which hardly by themselves increase the risk of presenting the disorder and hardly justify its high heritability. Many of them are present in more than 60% of the general population, suggesting their modulatory rather than causal role. However, after the irruption of new genetic techniques in the last 15 years, a greater number of cases are be ing identified with genetic disorders (many of them monogenic), whose genetic variants alone explain the presence of ADHD. A detailed study of the personal and family history, as well as a complete physical examination, can help to identify some of them. The identification of the cause in this group of cases has a crucial value in clinical counseling, genetic-familial counseling and prognostic anticipation, as well as in the performance or avoidance of complementary stud ies and in the design of the intervention plan.

Analysis of cell mutation types of colorectal neuroendocrine tumors / 基础医学与临床

Objective To investigate the mutation types of colorectal neuroendocrine tumors(NETs)and better un-derstand the pathogenesis of colorectal nets.Methods Patients undergoing colorectal NETs surgery were recruited,colorectal NETs and corresponding adjacent cancerous tissues were collected,and whole genome sequencing(WGS)was performed and further deeply analyzed.Results WGS sequencing showed that the mutation types of colorectal NETs included single nucleotide mutations,insertion and deletion mutations(InDel,less than 50 bp in length),copy number variations(CNV),and large structural variations(SV,more than 50 bp in length),such as insertion(INS),deletion(DEL),intra chromosomal translocation(ITX),inter chromosomal translocation(CTX)and inversion(INV).Conclusions A large number of somatic mutations occur in colorectal NETs,especially chro-mosome translocation

Role of echocardiography in assessing copy number variation in fetal congenital heart disease / 中华围产医学杂志

Objective:This study examines the application of echocardiography in the prenatal diagnosis of copy number variation (CNV) associated with fetal congenital heart disease (CHD).Methods:A retrospective analysis was conducted on 447 singleton pregnancies from Quanzhou Maternal and Child Care Hospital (Quanzhou Children's Hospital) from January 2019 to August 2022. These individuals underwent echocardiographic assessments suggestive of fetal CHD and subsequently received invasive prenatal diagnoses. Comprehensive karyotype analysis and chromosome microarray analysis (CMA) were performed for each case. The discrepancies in the chromosomal abnormality detection were analyzed between the results produced by CMA and karyotype analysis. Furthermore, differences in the detection of pathogenic copy number variation (pCNV) between the two methods in CHD cases with diverse cardiac phenotypes, including the presence or absence of extracardiac structural malformations, the type, and quantity of cardiac structural anomalies, were explored. Statistical analysis was conducted using the Chi-square test. Results:Compared with conventional karyotype analysis, CMA demonstrated a higher detection rate of fetal chromosomal abnormalities [10.5% (47/447) vs. 20.6% (92/447), χ 2=161.56, P<0.001]. In terms of distinct cardiac phenotypes, CHD cases with extracardiac structural anomalies displayed an escalated pCNV detection rate in comparison to isolated CHD cases [11.4% (45/394) vs. 32.1% (17/53), χ 2=16.68, P<0.001]. Within the cardiac structural anomaly subgroups, increased pCNV detection rates were observed in the septal defect subgroup, conotruncal malformation subgroup, and left ventricular malformation subgroup [18.4%(29/158), 25.9%(7/27), and 25.0%(7/28) vs. 7.6%(16/210); χ 2=9.15, 9.68, and 8.55, respectively, all P<0.05]. The CMA-identified pCNV correlated with CHD included 22q11.2 deletions/duplications in eight cases, 4p16.3 deletions in two cases, 11q23.3 microduplications in two cases, 1q21.1 microdeletions/microduplications in two cases, 4q28.3 microduplications in one case, and 10p15.3 microdeletions in one case. Conclusions:CMA technology exhibited an enhanced ability to detect pCNV in fetuses with CHD. Echocardiography can guide targeted CMA screening, thereby facilitating prenatal genetic assessment of CHD.

Correlation between clinical distribution characteristics of streptococcal pharyngitis in children and seasonal variations in Ziyang Area> / 公共卫生与预防医学

Objective To explore the correlation between clinical distribution characteristics of streptococcal pharyngitis in children and seasonal variations in Ziyang area, so as to provide basis for disease prevention and control. Methods A multistage and stratified random sampling technique was used to investigate 583 children with streptococcal pharyngitis attending Ziyang first people's Hospital from January 2022 to January 2023. The clinical data were recorded. The pharyngeal specimens were cultured for streptococci test. The number of streptococcal pharyngitis cases per season was counted. The metereological conditions (average barometric pressure, temperature, rainfall, and wind speed) were recorded. Pearson method was used to discuss the correlation between metereological factors and streptococcal pharyngitis onset. Results A total of the 583 children, 329 were male and 254 were female. The main age of onset was 7-12 years old, with a total of 227 cases (38.94%), followed by 199 cases (34.13%) aged 3-6 years old, 126 cases (21.61%) aged 1-2 years old, and 31 cases (5.32%) under 1 year old. A total of 614 strains of pathogenic bacteria were detected, of which 479 strains of Streptococcus hemolyticus were dominant, accounting for 78.01%, followed by 175 strains of Streptococcus pyogenes, accounting for 28.50%. Seasonally, 192 cases of streptococcal pharyngitis occurred in spring, 51 in summer, 72 in autumn and 268 in winter. In Ziyang, spring and winter were characterized by high mean wind speeds and barometric pressure, while summer and autumn were characterized by high mean temperatures and heavy rainfall. Pearson correlation analysis revealed that the prevalence rate streptococcal pharyngitis was positively correlated with average wind speed and barometric pressure (P<0.05), and negatively correlated with mean temperature and rainfall (P<0.05). Conclusion In Ziyang, streptococcal pharyngitis occurs mostly in children over 5 years old, and the main pathogen is Streptococcus hemolyticus. The onset of the disease is mostly in spring and winter, which is closely related to the seasonal variations of the region.

Genetic variations among the isolates of Bipolaris Maydis based on phenotypic and molecular markers

Abstract Maydis leaf blight, caused by Bipolaris maydis, is an important disease of maize crop in Khyber Pakhtunkhwa (KP) Pakistan. Fifteen isolates of the pathogen, collected across KP, were studied for variability based on phenotypic and molecular markers. Significant variability among the isolates was observed when assessed using phenotypic traits such as radial growth, spore concentration, fungicide sensitivity and virulence. The isolates were classified into six culture groups based on colour, texture and margins of the colony. Conidial morphology was also variable. These were either straight or slightly curved and light to dark brown in colour. Fungicide test showed significant variation in the degree of sensitivity against Carbendazim. Isolate Bm8 exhibited maximum radial growth on carbendazim spiked plates. Conversely, isolate Bm15 showed the lowest radial growth. Variations in virulence pattern of the isolates were evident when a susceptible maize variety Azam was inoculated with spores of B. maydis. Genetic variability amongst the isolates was also estimated by RAPD as well as sequencing of ITS region. The RAPD dendrogram grouped all the isolates into two major clusters. Average genetic distance ranged from 0.6% to 100%, indicating a diverse genetic gap among the isolates. Maximum genetic distance was found between isolates Bm9 and Bm10 as well as Bm2 and Bm8. Conversely, isolates Bm13 and Bm15 were at minimum genetic distance. Phylogenetic dendrogram based on sequencing of ITS region grouped all the isolates into a single major cluster. The clusters in both the dendrogram neither correlate to the geographical distribution nor to the morphological characteristics.

Resumo A ferrugem das folhas de maydis, causada por Bipolaris maydis, é uma doença importante da cultura do milho em Khyber Pakhtunkhwa (KP), Paquistão. Quinze isolados do patógeno, coletados em KP, foram estudados quanto à variabilidade com base em marcadores fenotípicos e moleculares. Variabilidade significativa entre os isolados foi observada quando avaliada por meio de características fenotípicas, como crescimento radial, concentração de esporos, sensibilidade a fungicida e virulência. Os isolados foram classificados em seis grupos de cultura com base na cor, textura e margens da colônia. A morfologia dos conídios também foi variável. Estes eram retos ou ligeiramente curvos e de cor marrom-claro a escuro. O teste de fungicida mostrou variação significativa no grau de sensibilidade ao carbendazim. O isolado Bm8 exibiu crescimento radial máximo em placas com adição de carbendazim. Por outro lado, o isolado Bm15 apresentou o menor crescimento radial. As variações no padrão de virulência dos isolados foram evidentes quando uma variedade de milho suscetível Azam foi inoculada com esporos de B. maydis. A variabilidade genética entre os isolados também foi estimada por RAPD, bem como sequenciamento da região ITS. O dendrograma RAPD agrupou todos os isolados em dois grupos principais. A distância genética média variou de 0,6% a 100%, indicando uma lacuna genética diversa entre os isolados. A distância genética máxima foi encontrada entre os isolados Bm9 e Bm10 e também entre Bm2 e Bm8. Por outro lado, os isolados Bm13 e Bm15 estavam a uma distância genética mínima. O dendrograma filogenético baseado no sequenciamento da região ITS agrupou todos os isolados em um único aglomerado principal. Os agrupamentos em ambos os dendrogramas não se correlacionam com a distribuição geográfica nem com as características morfológicas.

The variations of osseous structure of the ınternal acoustic canal: an anatomical study

Abstract Objectives The internal acoustic meatus is an osseous canal that connects the inner ear to the posterior cranial fossa. It is located in the petrous portion of the temporal bone. A thin cribriform osseous plate known as the fundus is situated at the lateral end of the canal. This study assesses the structural and numerical variations of the fundus formations. Methods Fifty-four temporal bones of unknown gender and age were examined with the surgical microscope. Results The temporal bones analyzed were 46.2% right-sided and 53.7% left-sided. Only one temporal bone had two parallel transverse crests, while three had a single anterior crest that split into two branches posteriorly. The number of foramina at the transverse crest varied, with 29.6% having none, 48.1% having a single foramen, and 22.2% having several foramina. An anterior crest structure was seen in 53.7% of the temporal bones, with 5% having a slightly constricted entry to the facial canal. In cases with a single nerve foramen, 48.1% had one, while 51.8% had more than one, including examples with three or four foramina. A crest was found between the foramina of the single nerve in 7% of patients. Furthermore, a crest between the saccular nerve foramen and the high fiber foramina was seen in 25.9% of cases, and 5% had two saccular nerve foramina. Conclusion We think that revealing the anatomical, structural and numerical variations in the fundus will be useful in explaining the disease-symptom relationship. Level of evidence: Level 4.

Identification of a rare copy number polymorphic gain at 3q12.2 with candidate genes for familial endometriosis

Abstract Endometriosis is a complex disease that affects 10-15% of women of reproductive age. Familial studies show that relatives of affected patients have a higher risk of developing the disease, implicating a genetic role for this disorder. Little is known about the impact of germline genomic copy number variant (CNV) polymorphisms on the heredity of the disease. In this study, we describe a rare CNV identified in two sisters with familial endometriosis, which contain genes that may increase the susceptibility and progression of this disease. We investigated the presence of CNVs from the endometrium and blood of the sisters with endometriosis and normal endometrium of five women as controls without the disease using array-CGH through the Agilent 2x400K platform. We excluded common CNVs that were present in the database of genomic variation. We identified, in both sisters, a rare CNV gain affecting 113kb at band 3q12.2 involving two candidate genes: ADGRG7 and TFG. The CNV gain was validated by qPCR. ADGRG7 is located at 3q12.2 and encodes a G protein-coupled receptor influencing the NF-kappaβ pathway. TFG participates in chromosomal translocations associated with hematologic tumor and soft tissue sarcomas, and is also involved in the NF-kappa B pathway. The CNV gain in this family provides a new candidate genetic marker for future familial endometriosis studies. Additional longitudinal studies of affected families must confirm any associations between this rare CNV gain and genes involved in the NF-kappaβ pathway in predisposition to endometriosis.

An Unusual Anatomical Variation of Accessory Left Gastric Artery Arising from Left Hepatic Artery / Una Variación Anatómica Inusual de la Arteria Gástrica Izquierda Accesoria que se Origina de la Arteria Hepática Izquierda

SUMMARY: The stomach receives a rich blood supply from five sets of arteries, all of which originate from the celiac trunk. During the dissection of a female cadaver that had been fixed with formalin, an atypical branching pattern was observed. An accessory left gastric artery was found to originate from the left hepatic artery and send small branches to the esophagus, cardia, and fundus of the stomach. However, there was no anastomosis between the lower accessory left gastric artery and the left gastric artery. This is a rare variant of the gastric artery that has not been previously described in detail. It is important to recognize this variation for safe and effective interventional diagnosis and treatment techniques if dealing with the liver or gastric arteries.

El estómago recibe un rico suministro de sangre de cinco conjuntos de arterias, todas las cuales se originan en el tronco celíaco. Durante la disección de un cadáver femenino que había sido fijado con formalina, se observó un patrón de ramificación atípico. Se encontró una arteria gástrica izquierda accesoria que se originaba en la arteria hepática izquierda y enviaba pequeñas ramas al esófago, el cardias y el fondo del estómago. Sin embargo, no hubo anastomosis entre la arteria gástrica izquierda accesoria inferior y la arteria gástrica izquierda. Se trata de una variante rara de la arteria gástrica que no se ha descrito previamente en detalles. Es importante reconocer esta variación para la aplicación de técnicas de diagnóstico y tratamiento intervencionistas seguras y efectivas a nivel del hígado o las arterias gástricas.

Study of Digastric Muscle in Brazilian Individuals / Estudio del Músculo Digástrico en Individuos Brasileños

SUMMARY: Correct detailed description of the anatomy of the digastric muscle (DM) in different populations should be carried out to improve the teaching of anatomy, avoid misinterpretations and help to avoid intercurrences during surgical procedures in the region. The aim of this study was to carry out a study of the DM in adult Brazilian individuals. The sample consisted of 50 DM from adult individuals (22 right side and 28 left side) fixed in 10 % formaldehyde. The morphology of the DM was observed, identifying possible anatomical variations; these were characterized and classified according to the number of the muscle bellies, direction of the fibre, and points of origin and insertion. The morphometric measurements were performed using a digital calliper. Student's t-test for dependent samples was used to measure differences between sides; one-way ANOVA was used to analyse the different classifications, and the chi-squared test to analyse qualitative variables, with significance threshold of 5 %. The anterior belly of the DM was classified as Type I in 28 samples (56 %), Type II in 20 (40 %) and Type III in 2 (4 %). The mean length was 37.8 mm, width 12.1 mm and thickness 5.39 mm, with no statistically significant differences found for these variables. The intermediate tendon of the DM was classified as Type I in 31 samples (62 %), Type II in 10 (20 %) and Type III in 9 (18 %); its mean total length was 45.1 mm. The posterior belly of the DM was Type I in 50 samples (100 %), with mean length 70.8 mm and width 8.15 mm. Anatomical variations of the DM, particularly its anterior belly, in Brazilian adults are very frequent. They must therefore be carefully identified to help avoid intercurrences during surgical procedures in the region, and to help correct evaluation of swollen lymph nodes in the submental triangle.

Con el propósito de ayudar en la enseñanza de la Anatomía se debe realizar una descripción correcta y detallada del músculo digástrico (MD), evitando malas interpretaciones y contribuyendo a evitar intercurrencias durante procedimientos quirúrgicos en la región. El objetivo de este estudio fue realizar un estudio del MD en individuos brasileños. Fueron utilizadas 50 muestras de MD de individuos adultos (22 del lado derecho y 28 del lado izquierdo) fijadas en formaldehido al 10 %. Se analizó la morfología del MD, identificando las posibles variaciones anatómicas, que fueron clasificadas según el número de vientres musculares, dirección de las fibras y lugar de origen e inserción. Para el análisis estadístico las medidas fueron realizadas con un paquímetro digital. Para el análisis estadístico fueron utilizadas las pruebas de t de Student, ANOVA de una vía para variables continuas y la prueba de chi-cuadrado con ajuste de Bonferroni para las variables categóricas. Se utilizó el software SPSS v. 28.0, considerándo umbral de significación de 5 %. El vientre anterior del MD se clasificó como Tipo I en 28 muestras (56 %), como Tipo II en 20 (40 %) y como Tipo III en 2 (4 %). El promedio de longitud fue de 37,8 mm, la anchura de 12,1 mm y el espesor de 5,39 mm, no siendo encontradas diferencias estadísticas significativas para estas variables. El tendón intermedio del MD fue Tipo I en 31 muestras (62 %), Tipo II en 10 (20 %) y Tipo III en 9 (18 %). El promedio de su longitud total fue de 45,1 mm. El vientre posterior del MD fue de Tipo I en 50 muestras (100 %), con promedio de longitud de 70,8 mm y de ancho de 8,15 mm. Las variaciones anatómicas del MD, particularmente de su vientre anterior, son muy frecuentes en brasileños adultos, por lo que deben ser identificadas detalladamente contribuyendo a evitar intercurrencias durante los procedimientos quirúrgicos en la región y también para propiciar la correcta evaluación de las adenopatías del espacio submentoniano.

Clinicopathological and molecular analyses of uterine carcinosarcomas using next-generation sequencing: A single-center experience

Background: Uterine carcinosarcomas (UCS) constitute 3–4% of all uterine malignancies and 16% of deaths caused due to uterine neoplasms. Aim: In this study, we aimed to perform DNA-based mutation analysis in 12 genes (KRAS, NRAS, EGFR, C-KIT, BRAF, PDGFRA, ALK, ERBB2, ERBB3, ESR1, RAF1, PIK3CA) to determine the molecular subtypes of UCS using next-generation sequencing (NGS) in patients with aggressive UCS and poor prognosis. We aimed to compare the results of our analysis with clinicopathological data to contribute to the development of targeted therapy approaches related to the molecular changes of UCS. Materials and Methods: In this study, we included 12 cases diagnosed with uterine carcinosarcomas and examined the changes in oncogenes that play a role in UCS pathogenesis. For the analysis of mutation, the clinicopathological data were compared with the variations in the DNA-based gene panel consisting of 12 genes and 1237 variants in the UCS using the NGS method. Results: EGFR mutation was found in 91.7% of the cases, mutation in 41.7%, PDGFRA mutation in 25%, KRAS and PIK3CA mutation in 16.7%, and C-KIT mutation in 8.3% of the cases. Although no statistical significance was found between the detected mutation and clinicopathological data, it was concluded that PDGFRA mutation might be associated with advanced-stage disease development. Conclusion: This study's findings regarding different molecular types of UCS and information on oncogenesis of UCS can provide inferences for targeted therapies in the future by identifying targetable mutations representing early oncogenic events and thereby contribute toward further studies on this subject.

Bloqueos Nerviosos. Bases Anatómicas del Dolor Somático Abdomino-Pélvico / Nerve Blocks. Anatomy of the Somatic Innervation of the Abdomino-Pelvic Cavity

El dolor abdominal es una de las sintomatologías que afectan con frecuencia la cavidad abdomino-pélvica. Dicha cavidad posee una inervación somática en la que intervienen del séptimo a doceavo nervios intercostales, ramos colaterales y terminales del plexo lumbar y el nervio pudendo; siendo objetivo de este trabajo la descripción anatómica del dolor abdominopélvico a través del plexo lumbar, nervios intercostales y nervio pudendo, sus diferentes patrones y variaciones de conformación, y las implicancias de éstas últimas en las distintas maniobras clínico-quirúrgicas. Se realizó un estudio descriptivo, observacional y morfométrico de la inervación somática de la cavidad abdomino-pélvica, en 50 preparaciones cadavéricas, fijadas en solución de formaldehído, de la Tercera Cátedra de Anatomía, Facultad de Medicina, Universidad de Buenos Aires, entre Agosto/2017-Diciembre/2019. La descripción clásica del plexo lumbar se encontró en 35 casos; la presencia del nervio femoral accesorio en ningún caso; así como también la ausencia del nervio iliohipogástrico en ningún caso; el nervio obturador accesorio se halló en 2 casos; el nervio genitofemoral dividiéndose dentro de la masa muscular del psoas mayor en 6 casos; el nervio cutáneo femoral lateral emergiendo únicamente de la segunda raíz lumbar en 6 casos y por último se encontró la presencia de un ramo del nervio obturador uniéndose al tronco lumbosacro en un caso. Los nervios intercostales y el nervio pudendo presentaron una disposición clásica en todos los casos analizados. Es esencial un adecuado conocimiento y descripción del plexo lumbar, nervios intercostales y nervio pudendo para un adecuado abordaje de la cavidad abdomino-pélvica en los bloqueos nerviosos.

SUMMARY: Abdominal pain is one of the symptoms that affect the abdominal-pelvic cavity. The abdominal-pelvic cavity has a somatic innervation involving the seventh to twelfth intercostal nerves, collateral and terminal branches of the lumbar plexus and the pudendal nerve. The objective of this work is the description of the lumbar plexus, intercostal nerves and pudendal nerve, its different patterns and structure variations, as well as its implications during pain management in patients. A descriptive, observational, and morphometric study of patterns and structure variations of the lumbar plexus, intercostal nerves and pudendal nerve was conducted in 50 formalin-fixed cadaveric dissections of the Third Chair of Anatomy at the School of Medicine in the Universidad de Buenos Aires from August 2017 to December/2019. The standard description of the lumbar plexus was found in 35 cases; accessory femoral nerve was not present in any of the cases; absence of the iliohipogastric nerve was also not found in any case, while the accessory obturating nerve was found in 2 cases; genitofemoral nerve dividing within the muscle mass of psoas in 6 cases; lateral femoral cutaneous nerve emerging only from the second lumbar root in 6 cases and finally, presence of a branch of the obturating nerve was found joining the lumbosacral trunk in one case. The pudendal and intercostal nerve patterns presented a typical pathway in all cases. Adequate knowledge and description of the lumbar plexus, intercostal nerves and pudendal nerve is essential for an adequate approach of the abdominal-pelvic cavity in nerve blocks.

Anatomical Variations and Clinical Significance of the Cerebral Arterial Circle in Turkish Cadavers / Variaciones Anatómicas y Significancia Clínica del Círculo Arterial Cerebral en Cadáveres Turcos

SUMMARY: The structure formed by the arteries, which is of great importance in the irrigation of the brain, is called the cerebral arterial circle (Polygon of Willis). Since the cerebral arterial circle provides brain nutrition, vascularabnormalities in this region are highly relevant. Therefore, the aim of our study was to examine the variations of the cerebral arterial circle in cadavers of Turkish individuals. In our study, 32 human cadavers obtained from three different universities were retrospectively examined. Brain tissue obtained from cadavers by craniotomy was kept in 20 % formaldehyde solution for an average of 10 days for fixation. Cerebral arterial circle diagrams were determined in all cadavers by staining and photographs were taken. As a result of the brain examinations, a variation of the cerebral arterial circle was detected in 24/32 brains. Vascular variations have an important place in congenital variations. For this reason, we believe that our brain study will contribute to clinical studies on this topic by investigating variations of the cerebral arterial circle.

La estructura formada por las arterias que tiene una gran importancia en la irrigación del cerebro se denomina círculo arterial cerebral (Polígono de Willis). Dado que el círculo arterial cerebral proporciona la irrigación cerebral, las anomalías vasculares en esta región son muy relevantes. Por lo tanto, el objetivo de nuestro estudio fue examinar las variaciones del círculo arterial cerebral en cadáveres de individuos turcos. En nuestro estudio, se examinaron retrospectivamente 32 cadáveres humanos obtenidos de tres universidades diferentes. El tejido cerebral de los cadáveres fue obtenido por craneotomía y se mantuvo en solución de formaldehído al 20 %, durante 10 días en promedio para su fijación. Se determinaron los diagramas de círculo arterial cerebral en todos los cadáveres mediante coloración y se tomaron fotografías. Como resultado de los exámenes, se detectó una variación del círculo arterial cerebral en 24/32 de los cerebros. Las variaciones vasculares tienen un lugar importante en las variaciones congénitas. Por esta razón, creemos que nuestro estudio contribuirá a estudios clínicos sobre el tema al pesquisar las variaciones del círculo arterial cerebral.

DNA rare copy number alterations in Reinke's Edema

Abstract Introduction: Reinke's Edema (RE) is a laryngeal lesion related to excessive tobacco smoking, voice overuse, and laryngopharyngeal reflux. Although the risk of malignancy has been considered low in literature, RE is classified among precancerous lesions. Objectives: We investigated DNA Copy Number Alterations (CNAs) in specimens of RE and its potential association with malignant progression. Methods: We used array-based comparative genomic hybridization (aCGH, Agilent 4 × 180 K platform) to study eight RE cases. All patients were heavy tobacco users for at least 30 years, and none of them progressed to cancer in the follow-up (>8 years). Two RE presented mild dysplasia, one moderate dysplasia, and no histological alterations were found in the remaining five cases. CNAs were compared with the Database of Genomic Variants (DGV) and genes mapped on altered regions had their functions annotated. Results: Six of eight patients showed different rare copy number alterations on chromosomes 2q37.3, 4q13.1, 4q13.3, 7q11.22, 10p14, and 13q34. A gain of the whole chromosome 8 were detected in one case. Of interest, four of eight RE cases showed copy number imbalances involving genes previously described in several tumor types (RASA3, COL6A3, LINC00707, LINP1, SMR3A, and SMR3B). Conclusion: The genomic imbalances herein found in RE have the potential to contribute to the phenotype but with limited or no risk of cancer. A long-term follow-up in a large series of patients could clarify the mechanisms involved in the malignant progression of RE. Level of evidence: 4.

Variaciones anatómicas de las arterias radial y ulnar en miembros superiores plastinados / Anatomical variations of radial and ulnar arteries in plastinated upper limbs

Los avances en el área de la salud, con el desarrollo de nuevos procedimientos diagnósticos y quirúrgicos, requieren un conocimiento cada vez más preciso de la anatomía humana. La difusión de la disposición variable de la anatomía resulta primordial no sólo en el campo de la especialización o el postgrado, sino por sobre todo, en el pregrado, desde donde se formarán los especialistas que luego desarrollarán esas nuevas prácticas clínicas y quirúrgicas que requerirán una sólida formación anatómica. Es por esto que la aplicación correcta de técnicas anatómicas en las muestras anatómicas es fundamental para que esta enseñanza en el pregrado pueda desarrollarse de manera eficiente, teniendo la plastinación un rol fundamental en este sentido. El objetivo de este trabajo consistió en dar a conocer el hallazgo de variaciones anatómicas arteriales en los miembros superiores de una muestra humana sometida al proceso de plastinación para fomentar, por un lado, la importancia del conocimiento anatómico en el pregrado, el postgrado y las especialidades, como así también la relevancia de la preservación a largo plazo de material biológico para la difusión continua de la anatomía.

SUMMARY: Advances in the area of health with the development of new diagnostic and surgical procedures require an increasingly precise knowledge of human anatomy. The diffusion of the variable arrangement of anatomy is essential not only in the field of specialization or postgraduate, but above all, in the undergraduate, from where the specialists will be trained who will later develop these new clinical and surgical practices that will require a solid anatomical background. This is why the correct application of anatomical techniques in anatomical samples is essential for this undergraduate teaching to be developed efficiently, plastination having a fundamental role in this regard. The aim of this work was to report the discovery of anatomical variations in the upper limbs of a human sample subjected to the plastination process to promote, on one hand, the importance of anatomical knowledge in undergraduate, postgraduate and specialties, as well as the relevance of long- term preservation of biological material for the continued dissemination of anatomy.

Identificación de vértebras lumbares ii y iv por osteometría vertebral mediante fórmulas matemáticas

Introducción: Durante el hallazgo arqueológico o forense de un esqueleto incompleto, con vértebras sin características identificativas, no es posible determinar el nivel regional de la columna vertebral porque existen pocas determinantes que distingan los niveles a los que pertenece una vértebra. Objetivo: Proponer una fórmula matemática para la identificación de las vértebras lumbares que no son particulares. Métodos: Se realizó un estudio observacional descriptivo en la osteoteca de la Universidad de Ciencias Médicas de Matanzas. Se analizaron todas las vértebras lumbares entre lii y liv de la colección para un total de 87 huesos. Se midieron y calcularon los índices para el cuerpo y el agujero, y se utilizó un cociente matemático para asociar ambas partes. Resultados: El diámetro transversal predominó sobre el anteroposterior en el cuerpo y en el agujero. La media del cociente entre ambos fue de 0,60 cm y permitió dividir las vértebras en 2 grupos: superior e inferior; morfológicamente, deben coincidir con las vértebras lumbares lii y liv. Conclusiones: La relación morfométrica del cociente del cuerpo-agujero puede diferenciar las vértebras lumbares que no son particulares.

Introduction: During the archaeological or forensic discovery of an incomplete skeleton, with vertebrae without identifying characteristics, it is not possible to determine the regional level of the spine because there are few determinants that distinguish the levels to which a vertebra belongs. Objective: To propose a mathematical formula for the identification of lumbar vertebrae that are not particular. Methods: A descriptive observational study was conducted in the osteotheque of the University of Medical Sciences of Matanzas. All lumbar vertebrae between LII and LIV in the collection were analyzed for a total of 87 bones. The indices for the body and hole were measured and calculated, and a mathematical quotient was used to associate both parts. Results: The transverse diameter predominated over the antero-posterior in the body and in the hole. The mean ratio between the two was 0.60 cm and allowed the vertebrae to be divided into 2 groups: upper and lower; morphologically, they must coincide with the lumbar vertebrae LII and LIV. Conclusions: The morphometric relationship of the body-hole ratio can differentiate lumbar vertebrae that are not particular.

High diagnostic yield with algorithmic molecular approach on hereditary neuropathies

SUMMARY OBJECTIVE: Charcot-Marie-Tooth disease covers a group of inherited peripheral neuropathies. The aim of this study was to investigate the effect of targeted next-generation sequencing panels on the molecular diagnosis of Charcot-Marie-Tooth disease and its subtypes in routine clinical practice, and also to show the limitations and importance of next-generation sequencing in the diagnosis of Charcot-Marie-Tooth diseases. METHODS: This is a retrospective study. Three different molecular methods (multiplex ligation probe amplification, next-generation sequencing, and whole-exome sequencing) were used to detect the mutations related to Charcot-Marie-Tooth disease. RESULTS: In total, 64 patients (33 males and 31 females) with suspected Charcot-Marie-Tooth disease were analyzed for molecular etiology. In all, 25 (39%) patients were diagnosed by multiplex ligation probe amplification. With an extra 11 patients with normal PMP22 multiplex ligation probe amplification results that were consulted to our laboratory for further genetic analysis, a total of 50 patients underwent next-generation sequencing for targeted gene panels associated with Charcot-Marie-Tooth disease. Notably, 18 (36%) patients had pathogenic/likely pathogenic variants. Whole-exome sequencing was performed on five patients with normal next-generation sequencing results; the diagnostic yield by whole-exome sequencing was 80% and it was higher in the childhood group. CONCLUSION: The molecular etiology in Charcot-Marie-Tooth disease patients can be determined according to pre-test evaluation, deciding the inheritance type with pedigree analysis, the clinical phenotype, and an algorithm for the genetic analysis. The presence of patients without a molecular diagnosis in all the literature suggests that there are new genes or mechanisms waiting to be discovered in the etiology of Charcot-Marie-Tooth disease.

Detection of meningeal carcinomatosis by metagenomic next-generation sequencing and copy number variation analysis of cerebrospinal fluid / 中华神经科杂志

Objective:To evaluate the significance of copy number variation (CNV) and metagenomic next-generation sequencing (mNGS) of cerebrospinal fluid (CSF) in the diagnosis of meningeal carcinomatosis (MC).Methods:Ten patients with MC diagnosed in the Department of Neurology of Peking Union Medical College Hospital from March 2022 to June 2022 were consecutively enrolled in this study. The patients were diagnosed according to the criteria of the Chinese expert consensus on the diagnosis of MC by the Chinese Society of Infectious Diseases and Cerebrospinal Fluid Cytology, and the diagnosis of MC was confirmed by CSF cytology. The control group included 10 patients who were diagnosed as autoimmune encephalitis or viral encephalitis. CSF mNGS and CNV analysis were performed simultaneously in all the patients.Results:Of the 10 patients with MC, 6 had lung adenocarcinoma, 4 had breast cancer. CSF mNGS and CNV analysis detected large CNV in 8 of 10 patients with MC, including 4 patients with breast cancer and 4 patients with lung cancer. The results of pathogenic microorganism analysis of CSF mNGS in all the patients were negative. Meanwhile, large CNV was not detected in the control group.Conclusions:CSF CNV can serve as a diagnostic marker for MC. The combination of mNGS and CNV analysis has demonstrated a high positive rate in the diagnosis of MC. The dual-omics analysis of pathogenic microorganisms and CNV has been proposed as a potential strategy to further expand the clinical utility of CSF mNGS in the realm of auxiliary diagnosis.