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.

Predictive Models for Non-Alcoholic Fatty Liver Disease Diagnosis in Mexican Patients with Gallstone Disease: Sex-Specific Insights.

(1) Background: Evidence regarding Non-Alcoholic Fatty Liver Disease (NAFLD) diagnosis is limited in the context of patients with gallstone disease (GD). This study aimed to assess the predictive potential of conventional clinical and biochemical variables as combined models for diagnosing NAFLD in patients with GD. (2) Methods: A cross-sectional study including 239 patients with GD and NAFLD diagnosed by ultrasonography who underwent laparoscopic cholecystectomy and liver biopsy was conducted. Previous clinical indices were also determined. Predictive models for the presence of NAFLD stratified by biological sex were obtained through binary logistic regression and sensitivity analyses were performed. (3) Results: For women, the model included total cholesterol (TC), age and alanine aminotransferase (ALT) and showed an area under receiver operating characteristic curve (AUC) of 0.727 (p < 0.001), sensitivity of 0.831 and a specificity of 0.517. For men, the model included TC, body mass index (BMI) and aspartate aminotransferase (AST), had an AUC of 0.898 (p < 0.001), sensitivity of 0.917 and specificity of 0.818. In both sexes, the diagnostic performance of the designed equations was superior to the previous indices. (4) Conclusions: These models have the potential to offer valuable guidance to healthcare providers in clinical decision-making, enabling them to achieve optimal outcomes for each patient.

Association between the IL1B-511 C>T polymorphism and the risk of hematologic malignancies: data from a meta-analysis.

The relationship between the IL1B-511C>T (rs16944) polymorphism and the risk of developing hematologic malignancies remains controversial. Thus, we performed a meta-analysis to evaluate the association between IL1B-511C>T polymorphism and the risk of developing hematologic malignancies. A comprehensive search was conducted to identify all eligible studies on IL1B-511C>T polymorphism and hematologic malignancies. Twelve case-control studies, with 2,896 cases and 3,716 controls, were selected for the analysis. The overall data failed to indicate a significant association between IL1B-511C>T polymorphism and the risk of hematologic malignancies (OR:1.06, 95% Confidence Interval [CI]: 0.93-1.22). Moreover, non-significant associations were observed in a stratified analysis according to neoplasm type (multiple myeloma, Hodgkin's lymphoma, and non-Hodgkin's lymphoma), ethnicity (European and Asian), and Hardy-Weinberg equilibrium. In summary, our results suggest that there is no association between the IL1B-511C>T polymorphism and the risk of hematologic malignancies. As such, further large-scale studies are needed to confirm our findings.

Anatomical Variants of the Renal Veins and Their Relationship with Morphofunctional Alterations of the Kidney: A Systematic Review and Meta-Analysis of Prevalence.

Background: Variations in renal veins are quite common, and most people do not experience issues due to them. However, these variations are important for healthcare professionals, especially in surgical procedures and imaging studies, as precise knowledge of vascular anatomy is essential to avoid complications during medical interventions. The purpose of this study was to expose the frequency of anatomical variations in the renal vein (RV) and detail their relationship with the retroperitoneal and renal regions. Methods: A systematic search was conducted in the Medline, Scopus, Web of Science, Google Scholar, CINAHL, and LILACS databases from their inception until January 2024. Two authors independently carried out the search, study selection, and data extraction and assessed methodological quality using a quality assurance tool for anatomical studies (AQUA). Ultimately, consolidated prevalence was estimated using a random effects model. Results: In total, 91 studies meeting the eligibility criteria were identified. This study included 91 investigations with a total of 46,664 subjects; the meta-analysis encompassed 64 studies. The overall prevalence of multiple renal veins was 5%, with a confidence interval (CI) of 4% to 5%. The prevalence of the renal vein trajectory was 5%, with a CI of 4% to 5%. The prevalence of renal vein branching was 3%, with a CI of 0% to 6%. Lastly, the prevalence of unusual renal vein origin was 2%, with a CI of 1% to 4%. Conclusions: The analysis of these variants is crucial for both surgical clinical management and the treatment of patients with renal transplant and hemodialysis.

eDNA-based survey of the marine vertebrate biodiversity off the west coast of Guadeloupe (French West Indies).

Background: In the marine environment, knowledge of biodiversity remains incomplete for many taxa, requiring assessments to understand and monitor biodiversity loss. Environmental DNA (eDNA) metabarcoding is a powerful tool for monitoring marine biodiversity, as it enables several taxa to be characterised simultaneously in a single sample. However, the data generated by environmental DNA metabarcoding are often not easily reusable. Implementing FAIR principles and standards for eDNA-derived data can facilitate data-sharing within the scientific community. New information: This study focuses on the detection of marine vertebrate biodiversity using eDNA metabarcoding on the leeward coast of Guadeloupe, a known hotspot for marine biodiversity in the French West Indies. Occurrences and DNA-derived data are shared here using DarwinCore standards combined with MIMARKS standards.

KRAS Exon 2 Mutations in Patients with Sporadic Colorectal Cancer: Prevalence Variations in Mexican and Latin American Populations.

We searched for the prevalence of actionable somatic mutations in exon 2 of the KRAS gene in western Mexican patients with CRC. Tumor tissue DNA samples from 150 patients with sporadic CRC recruited at the Civil Hospital of Guadalajara were analyzed. Mutations in exon 2 of the KRAS gene were identified using Sanger sequencing, and the data were analyzed considering clinical-pathological characteristics. Variants in codon 12 (rs121913529 G>A, G>C, and G>T) and codon 13 (rs112445441 G>A) were detected in 26 patients (with a prevalence of 17%). No significant associations were found between these variants and clinical-pathological characteristics (p > 0.05). Furthermore, a comprehensive search was carried out in PubMed/NCBI and Google for the prevalence of KRAS exon 2 mutations in Latin American populations. The 17 studies included 12,604 CRC patients, with an overall prevalence of 30% (95% CI = 0.26-0.35), although the prevalence ranged from 13 to 43% across the different data sources. Determining the variation and frequency of KRAS alleles in CRC patients will enhance their potential to receive targeted treatments and contribute to the understanding of the genomic profile of CRC.

Hypoplastic and Congenital Absence of Coronary Arteries and Its Correlation with Clinical Implications of Cardiac Circulation: A Systematic Review and Meta-Analysis.

Background: Coronary arteries originate from the first portion of the aorta, emerging from the right and left aortic sinuses. They traverse through the subepicardium and coronary sulcus to supply the myocardium during diastolic function. The objective of this review was to understand how the hypoplasia and agenesis of the coronary arteries are associated with cardiac pathologies. Methods: The databases Medline, Scopus, Web of Science, Google Scholar, CINAHL, and LILACS were researched until January 2024. An assurance tool for anatomical studies (AQUA) was used to evaluate methodological quality. The pooled prevalence was estimated using a random effects model. Results: A total of three studies met the established selection criteria for inclusion in this meta-analysis. The prevalence of coronary artery variants was 3% (CI = 2% to 8%), with a heterogeneity of 77%. The other studies were analyzed descriptively, along with their respective clinical considerations in the presence of the variant. Conclusions: Hypoplasia and the congenital absence of the coronary arteries are often incidental findings and understanding these variants is crucial to prevent misdiagnosis. Additionally, it is essential to exercise caution when considering surgical management for hearts with these variants.

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.

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

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-kappaß 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-kappaß pathway in predisposition to endometriosis.

A Review of the Rumen Microbiota and the Different Molecular Techniques Used to Identify Microorganisms Found in the Rumen Fluid of Ruminants.

Variations in environments, including climate, diet, and agricultural practices, significantly impact the composition and microbial activity. A profound understanding of these adaptations allows for the improvement of nutrition and ruminant production. Therefore, this review aims to compile data from the literature on the rumen microbiota and molecular techniques for identifying the different types of microorganisms from the rumen fluid of ruminants. Analyzing the literature on rumen microbiology in different ruminants is complex due to microbial interactions, influenced by the environment and nutrition of these animals. In addition, it is worth noting that the genera of protozoa and fungi most evident in the studies used in this review on the microbiology of rumen fluid were Entodinium spp. and Aspergillus spp., respectively, and Fibrobacter spp. for bacteria. About the techniques used, it can be seen that DNA extraction, amplification, and sequencing were the most cited in the studies evaluated. Therefore, this review describes what is present in the literature and provides an overview of the main microbial agents in the rumen and the molecular techniques used.

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.

Fine-Scale Spatial Variability of Greenhouse Gas Emissions From a Subantarctic Peatland Bog.

Peatlands are recognized as crucial greenhouse gas sources and sinks and have been extensively studied. Their emissions exhibit high spatial heterogeneity when measured on site using flux chambers. However, the mechanism by which this spatial variability behaves on a very fine scale remains unclear. This study investigates the fine-scale spatial variability of greenhouse gas emissions from a subantarctic Sphagnum peatland bog. Using a recently developed skirt chamber, methane emissions and ecosystem respiration (as carbon dioxide) were measured at a submeter scale resolution, at five specific 3 × 3 m plots, which were examined across the site throughout a single campaign during the Austral summer season. The results indicated that methane fluxes were significantly less homogeneously distributed compared with ecosystem respiration. Furthermore, we established that the spatial variation scale, i.e., the minimum spatial domain over which notable changes in methane emissions and ecosystem respiration occur, was <0.56 m2. Factors such as ground height relative to the water table and vegetation coverage were analyzed. It was observed that Tetroncium magellanicum exhibited a notable correlation with higher methane fluxes, likely because of the aerenchymatous nature of this species, facilitating gas transport. This study advances understanding of gas exchange patterns in peatlands but also emphasizes the need for further efforts for characterizing spatial dynamics at a very fine scale for precise greenhouse gas budget assessment.

An uncommon case of right hepatic duct entering cystic duct associated to multiple complications of biliary tract disease: acute pancreatitis, hepatolithiasis, acute cholecystitis and hepatic abscess.

Anatomical variations of the biliary tree pose diagnostic and treatment challenges. While most are harmless and often discovered incidentally during procedures, some can lead to clinical issues and biliary complications, making knowledge of these variants crucial to prevent surgical mishaps. Here, we present an unusual and clinically significant case. A 61-year-old man is admitted to the hospital with epigastric pain and diagnosis of pancreatitis of biliary origin and intermediate risk of choledocholithiasis. Magnetic resonance cholangiopancreatography (MRCP) reported hepatolithiasis and choledocholithiasis, whereas endoscopic retrograde cholangiopancreatography showed cystic drain of the right hepatic duct. One month later the patient presented again to the emergency room with increasing abdominal pain and a computed tomography that demonstrated the presence of hepatic abscess and acute cholecystitis. The patient underwent percutaneous drain abscess and a subtotal laparoscopic cholecystectomy. Biliary anatomical variants present challenges on the diagnostic investigations, interventional and surgical procedures, understanding the possible complications is essential.

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

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.

Morphometric analysis of the foramen magnum in the Peruvian population.

Background: The foramen magnum, as an anatomical structure, holds clinical and functional significance due to its strategic location in the craniovertebral transition. A detailed understanding of its dimensions and shapes is crucial for better comprehension of related pathologies and for enhancing neurosurgical techniques within a specific population. The objective is to measure precise morphometric reference points of the foramen magnum in individuals of Peruvian ancestry, aiming to establish specific anatomical patterns and potential variations within this population. Methods: The study was conducted on 17 unidentified skulls donated to the NeuroZone3D Research Center, utilizing an inelastic and soft measuring tape as the tool. Our report considered direct anthropometric measurement techniques with data collection performed by a single researcher. Results: Distinct morphometric characteristics were observed in the foramen magnum of the Peruvian population compared to other studies. The average measurements of the skull base revealed a foramen magnum with a mean length of 33.80 mm and a width of 28.70 mm, along with right condyles measuring 25 mm in length and 14.10 mm in width, and left condyles measuring 23.80 mm in length and 13.90 mm in width. Conclusion: The morphometric analysis of the foramen magnum in the Peruvian population provides valuable insights into specific anatomical features within this ethnic group. These findings could have significant implications across various medical and surgical disciplines, from interpreting diagnostic images to designing more precise therapeutic interventions tailored to this population.

Insights into the Effect of Charges on Hydrogen Bonds.

Previous computational and experimental studies showed that charges located at the surroundings of hydrogen bonds can exert two opposite effects on them: rupture or strengthening of the hydrogen bond. This work aims to generalize the effect of charges in different hydrogen-bonded systems and to propose a coherent explanation of this effect. For these purposes, 19 systems with intra- and intermolecular hydrogen bonds were studied computationally with DFT. The FT-IR spectra of the systems were simulated, and two energy components of the hydrogen bond were studied separately to determine their variation upon the presence of a charge: charge transfer and molecular overlap. It was determined that either the breaking or strengthening of the hydrogen bond can be favored one over the other, for instance, depending on the heteroatom involved in the hydrogen bond. In addition, it is showed that the strengthening of the hydrogen bond by the presence of a charge is directly related to the decrease in charge transfer between the monomers, which is explained by an increase in molecular overlapping, suggesting a more covalent character of the interaction. The understanding of how hydrogen bonds are affected by charges is important, as it is a key towards a strategy to manipulate hydrogen bonds at convenience.

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

Attention-deficit/hyperactivity disorder (ADHD) is a complex and heterogeneous neurodevelopmental disorder from a causal, clinical and prognostic perspective. Research reflects its multifactorial nature with a prominent 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 being 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 studies and in the design of the intervention plan.

El trastorno por déficit de atención/hiperactividad (TDAH) es un trastorno del neurodesarrollo complejo y heterogéneo desde una perspectiva causal, clínica y pronóstica. 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 incrementan el riesgo de TDAH y difícilmente justifican su elevada heredabilidad. Muchas de ellas están presentes en más del 60% de la población general, lo que sugiere su papel 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.

A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.

Chromosomal microarray (CMA) is the reference in evaluation of copy number variations (CNVs) in individuals with neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and/or autism spectrum disorder (ASD), which affect around 3-4% of the world's population. Modern platforms for CMA, also include probes for single nucleotide polymorphisms (SNPs) that detect homozygous regions in the genome, such as long contiguous stretches of homozygosity (LCSH). These regions result from complete or segmental chromosomal homozygosis and may be indicative of uniparental disomy (UPD), inbreeding, population characteristics, as well as replicative DNA repair events. In this retrospective study, we analyzed CMA reading files requested by geneticists and neurologists for diagnostic purposes along with available clinical data. Our objectives were interpreting CNVs and assess the frequencies and implications of LCSH detected by Affymetrix CytoScan HD (41%) or 750K (59%) platforms in 1012 patients from the south of Brazil. The patients were mainly children with NDDs and/or congenital anomalies (CAs). A total of 206 CNVs, comprising 132 deletions and 74 duplications, interpreted as pathogenic, were found in 17% of the patients in the cohort and across all chromosomes. Additionally, 12% presented rare variants of uncertain clinical significance, including LPCNVs, as the only clinically relevant CNV. Within the realm of NDDs, ASD carries a particular importance, owing to its escalating prevalence and its growing repercussions for individuals, families, and communities. ASD was one clinical phenotype, if not the main reason for referral to testing, for about one-third of the cohort, and these patients were further analyzed as a sub-cohort. Considering only the patients with ASD, the diagnostic rate was 10%, within the range reported in the literature (8-21%). It was higher (16%) when associated with dysmorphic features and lower (7%) for "isolated" ASD (without ID and without dysmorphic features). In 953 CMAs of the whole cohort, LCSH (≥ 3 Mbp) were analyzed not only for their potential pathogenic significance but were also explored to identify common LCSH in the South Brazilians population. CMA revealed at least one LCSH in 91% of the patients. For about 11.5% of patients, the LCSH suggested consanguinity from the first to the fifth degree, with a greater probability of clinical impact, and in 2.8%, they revealed a putative UPD. LCSH found at a frequency of 5% or more were considered common LCSH in the general population, allowing us to delineate 10 regions as potentially representing ancestral haplotypes of neglectable clinical significance. The main referrals for CMA were developmental delay (56%), ID (33%), ASD (33%) and syndromic features (56%). Some phenotypes in this population may be predictive of a higher probability of indicating a carrier of a pathogenic CNV. Here, we present the largest report of CMA data in a cohort with NDDs and/or CAs from the South of Brazil. We characterize the rare CNVs found along with the main phenotypes presented by each patient and show the importance and usefulness of LCSH interpretation in CMA results that incorporate SNPs, as well as we illustrate the value of CMA to investigate CNV in ASD.

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.