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.

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.

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.

Morphological characteristics of the left gastric, common hepatic and splenic arteries. A descriptive study in human cadaveric specimens / Características morfológicas das artérias gástricas esquerda, hepática comum e esplênica. Um estudo descritivo em espécimes cadavéricos humanos

ABSTRACT Objective: to evaluate the morphology of the branches of celiac trunk (CT), left gastric (LGA), common hepatic (CHA), and splenic (SA) arteries in cadaveric specimens from a sample of a Colombian population. Methods: descriptive cross-sectional study of 26 blocks from the abdominal upper segment of human cadavers who underwent forensic autopsies at the Instituto de Medicina Legal at Bucaramanga, Colombia. The vascular beds of the celiac trunk were, subsequently, perfused with a semi-synthetic resin. Results: the diameters of LGA, CHA, and SA were 3.6±0.8mm, 5,2±1.2mm, and 5.9±1.0mm, respectively. Statistically, LGA and SA were different (p=<0.001). SA followed a linear trajectory in 8 (31%) samples, slightly tortuous in 4 (15%), and tortuous in 14 (54%). The tortuosity index was 1.25±0.18. Of the branches of CHA, the proper hepatic artery (PHA) had 4.8±1.2mm in diameter and 18.8±9.1mm in length, whereas the gastroduodenal artery (GDdA) had 4.1±0.8mm. In 2 cases (7.7%), an accessory hepatic artery from the LGA was found to supply perfusion to the left hepatic lobe. Finally, in 2 cases (7.7%) the SA came independently from the abdominal aorta. Conclusion: the observed emergence incidence of the CT branches from the same level as reported in the literature is lower. The characterization, along with their variants, of LGA, CHA, and SA must be considered in surgical procedures in the upper abdominal segment, to avoid iatrogenic complications.

RESUMO Objetivo: avaliar a morfologia dos ramos das artérias do tronco celíaco (CT), gástrica esquerda (LGA), hepática comum (HC) e esplênica (SA) em espécimes cadavéricos de uma amostra de uma população colombiana. Métodos: estudo transversal descritivo de 26 blocos do segmento superior abdominal de cadáveres humanos submetidos a necropsias forenses no Instituto de Medicina Legal de Bucaramanga, Colômbia. Os leitos vasculares do tronco celíaco foram, posteriormente, perfundidos com resina semissintética. Resultados: os diâmetros de LGA, CHA e SA foram 3,6±0,8mm, 5,2±1,2mm e 5,9±1,0mm, respectivamente. Estatisticamente, LGA e SA foram diferentes (p=<0,001). A SA seguiu uma trajetória linear em 8 (31%) amostras, levemente tortuosa em 4 (15%) e tortuosa em 14 (54%). O índice de tortuosidade foi de 1,25±0,18. Dos ramos do ACS, a artéria hepática própria (APH) tinha 4,8±1,2mm de diâmetro e 18,8±9,1mm de comprimento, enquanto a artéria gastroduodenal (GDdA) tinha 4,1±0,8mm. Em 2 casos (7,7%), uma artéria hepática acessória do GIG foi encontrada para fornecer perfusão ao lobo hepático esquerdo. Finalmente, em 2 casos (7,7%) a SA veio independentemente da aorta abdominal. Conclusão: a incidência observada de emergência dos ramos de TC do mesmo nível relatado na literatura é menor. A caracterização, juntamente com suas variantes, de LGA, CHA e SA deve ser considerada em procedimentos cirúrgicos no segmento abdominal superior, para evitar complicações iatrogênicas.

Anatomical variations of the celiac trunk in adult Filipino cadavers: A retrospective study

Objectives@#The celiac trunk (CT) is the first major branch of the abdominal aorta and typically gives rise to the left gastric artery (LGA), common hepatic artery (CHA), and splenic artery (SA), which supply blood to the abdominal viscera. Variations in the branching pattern of the CT exist and knowledge of such is crucial when performing surgical, laparoscopic, and angiographic procedures. The aim of this study is to determine the anatomic variations of the CT in adult Filipino cadavers and to compare the proportions of these with those reported in the foreign literature.@*Methods@#Adult Filipino cadavers from the University of the Philippines College of Medicine Anatomy Laboratory were dissected by first year medical students from 2014-2019. The CT and its branches were identified, drawn on a separate piece of paper, and confirmed to be correct and accurate by an anatomist. The data collected from that period was reviewed. Percentages were calculated for the branching patterns identified. A Z-test of Two Populations was used to compare the results of the current study to that of Pinal-Garcia (2018), Pillay (2020) and Venieratos (2013).@*Results@#A total of 107 drawings based on 107 dissected preserved cadavers were reviewed. Ninety-two specimens (85.98%) showed typical branching into the LGA, CHA, and SA. The CT presented as a true tripod (tripus Halleri) in 75 specimens (70.09%) and as a bifurcation with one of the three arteries arising first along the trunk (false tripod) in 17 specimens (15.89%). Nine cadavers (8.41%) showed additional branches arising from the CT and four (3.74%) showed bifurcation of the CT with the third branch arising from a different artery.@*Conclusion@#The most common configuration of the CT among Filipino adult cadavers is a true tripod, followed by a false tripod, additional branching, and bifurcation of the CT with the third branch arising elsewhere. The present study most closely resembles the results of the study of Venieratos.

Genetic etiology of fetal conotruncal defects and significance of copy number variation sequencing and whole exome sequencing: analysis of 196 cases / 中华围产医学杂志

Objective:To investigate the genetic etiology of fetal conotruncal heart defects (CTDs) and to evaluate the performance of copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) in identifying the genetic etiology.Methods:This retrospective study involved 196 fetuses diagnosed with CTDs by fetal echocardiography in Beijing Anzhen Hospital, Capital Medical University from June 2017 to December 2021. CNV-seq was performed to screen for chromosomal abnormalities [aneuploidy and copy number variations (CNVs)] in the fetuses and their parents, and then WES was performed if CNV-seq was negative. The diagnostic yields of genetic abnormalities [aneuploidy+CNVs+single nucleotide variations (SNVs)] for different types of CTDs were compared using Chi-square test. Results:CNV-seq revealed 54 cases (27.6%, 54/196) with chromosomal abnormalities, including 14 (7.1%, 14/196) aneuploidies, 39 (19.9%, 39/196) CNVs and one aneuploidy complicated by CNVs. Together with another 13 fetuses with pathogenic or likely pathogenic SNVs detected by WES among the rest 142 cases whose CNV-seq results were negative, the total detection rate of genetic abnormalities was 34.2% (67/196). WES increased the diagnostic yield for CTDs by 9.2% (13/142). There was significant difference in the diagnostic yields for different types of CTDs ( χ2=20.31, P=0.002). The diagnostic yield was relatively high for interrupted aortic arch of type B, absent of the pulmonary valve -type of tetralogy of Fallot (9/10 and 8/12), but low for transposition of the great arteries (12.5%, 5/40). Conclusions:CNVs are the common genetic abnormalities in fetal CTDs, and SNVs are also detected in some cases. It is recommended that all fetuses with CTDs should undergo genetic testing. CNV-seq should be used in combination with WES if possible to improve the identification of genetic etiology and provide reference for genetic counseling.

Prenatal diagnosis and genetic analysis of seven fetuses with 16p12.2 microdeletion or microduplication / 中华围产医学杂志

Objective:To investigate the prenatal ultrasonographic features and diagnosis of 16p12.2 copy number variation (CNV).Methods:This retrospective study recruited seven fetuses with 16p12.2 microdeletion/microduplication in the First Affiliated Hospital of Fujian Medical University from January 2017 to December 2021. Data, including the prenatal diagnostic indications, ultrasound findings, karyotypes, genetic testing and mutation tracing results, pregnancy outcomes, and postnatal follow-up data, were summarized with descriptive statistical analysis.Results:Prenatal ultrasound indicated three fetuses with structural abnormalities, including one case each of multiple malformations, interventricular septal defect, and cleft lip and palate. The other four cases were positive for ultrasonic soft markers involving the heart and kidney. The chromosome karyotypes of the seven fetuses were normal. Single nucleotide polymorphism array (SNP array) results showed that four cases had a 381.7-542.4 kb microdeletion containing three genes ( OTOA, METTL9, and IGSF6) in Online Mendelian Inheritance in Man (OMIM) at 16p12.2 (distal region) and three cases had a 484.0-701.7 kb microdeletion/microduplication containing four OMIM genes ( UQCRC2, CDR2, EEF2K, and POLR3E) at 16p12.2 (proximal region). Five (cases 1, 2, 4, 5, and 6) out of the seven fetuses inherited the variants from their phenotypically normal mother/father, and among them, three (cases 2, 4, and 5) were delivered at term and healthy. Two cases (cases 3 and 7) refused to undergo pedigree verification. Case 3, a full-term infant, underwent ventricular septal defect repair three months after birth, and no abnormality was found at 18 months of age. Conclusions:No specific phenotype presents in fetuses with 16p12.2 microdeletion/microduplication in prenatal diagnosis. OTOA gene is the key gene associated with abnormality in the distal region of 16p12.2. Pedigree analysis is conducive to preventing unnecessary termination of pregnancy.

Copy number variation analysis and outcomes of 1 658 fetuses with increased nuchal translucency / 中华围产医学杂志

Objective:To analyze the genetic etiology and prognosis in fetuses with increased nuchal translucency (NT) in order to assist in the clinical prenatal genetic counseling and diagnosis.Methods:This study retrospectively enrolled 1 658 cases of singleton pregnancy (<35 years old) receiving invasive prenatal diagnosis, including karyotype analysis and/or chromosome microarray analysis or copy number variation (CNV) sequencing, due to NT value ≥2.5 mm in the first trimester in Henan Provincial People's Hospital from August 2014 to December 2021. They were divided into different groups according to the thickness of NT (≥2.5-<3.0, ≥3.0-<3.5, ≥3.5-<4.5, ≥4.5-<5.5, ≥5.5-<6.5 and ≥6.5 mm groups) and abnormal ultrasound findings (isolated increased NT group, increased NT complicated by soft markers/non-severe structural abnormality group and increased NT complicated by severe structural abnormality group). The results of invasive prenatal diagnosis and pregnancy outcomes were compared between different groups using Chi-square test and trend Chi-square test. Results:The detection rates of numerical abnormalities of chromosomes were 15.8% (262/1 658) and 17.6% (252/1 431) when the NT thickness cut-off value were 2.5 mm or 3.0 mm, respectively. Overall, the detection rate of numerical abnormalities of chromosomes increased with thickness of NT ( χ2trend=180.75, P<0.001), ranging from 6.6% (44/671) in the NT≥2.5-<3.5 mm group to 45.6% (113/248) in the NT≥5.5 mm group. The incidence of pathogenic/likely pathogenic CNV(P/LP CNV) did not increased with NT thickness ( χ2trend=3.26, P=0.071), and the highest detection rate was observed in the NT≥4.5-<5.5 mm group (9.0%, 19/211). The detection rate of numerical abnormalities of chromosomes plus P/LP CNV in the isolated NT≥2.5-<3.0 mm group and NT≥3.0-<3.5 mm group were 5.3% (10/188) and 9.6% (36/375), respectively, however, the difference was not statistically significant ( χ2=3.06, P=0.080). The detection rates of numerical abnormalities of chromosomes plus P/LP CNV in the isolated NT≥3.5-<4.5 mm group and NT≥2.5-<3.0 mm complicated by soft markers/ non-severe structural abnormality group were 12.7% (52/410) and 24.1% (7/29), respectively, and the risk were 2.6 times (95% CI: 1.3-5.2) and 5.7 times (95% CI: 2.0-16.4) of the isolated NT≥2.5-<3.0 mm group, respectively. The pregnancy termination rate increased with the NT thickness ( χ2trend=304.42, P<0.001), ranging from 10.8% (23/212) in the NT≥2.5-<3.0 mm group to 90.7% (117/129) in the NT≥6.5 mm group. After exclusion of the pregnancies terminated due to numerical abnormalities of chromosomes and P/LP CNV, 87.6% (862/984) of the fetus with increased NT were born alive. Conclusions:The detection rate of numerical abnormalities of chromosomes increases with the thickness of NT. Invasive prenatal diagnosis is required for non-advance aged singleton pregnant women when fetuses present with isolated NT≥2.5 mm with or without soft markers/structural abnormalities.

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.

Macroscopic analysis of the insertion points of the lateral pterygoid muscle in adult individuals / Análisis macroscópico de los lugares de inserción del músculo pterigoideo lateral en individuos adultos

SUMMARY: The lateral pterygoid muscle (LPM) is intimately related with the temporomandibular joint (TMJ), playing an important role in its physiology. This makes it of interest to researchers who investigate temporomandibular disorders. The literature indicates that anatomical variations exist in the insertion of the superior fascicle of the LPM. Imaging and cadaver studies have revealed that the LPM may present an accessory fascicle. The study object was to carry out macroscopic analysis of the LPM, examining the origin and insertion of its superior and inferior fascicles. The study used 38 half-heads of adult individuals fixed in formaldehyde 10 %. To carry out macroscopic analysis of the LPM, an initial incision was made along the lower margin of the zygomatic arch; the origin of the masseter muscle was then dissected, separating its insertion on the lateral face of the mandibular ramus and retracting the muscle to posteroinferior. Two incisions were made on the zygomatic arch and the insertion of the temporal muscle on the coronoid process was identified with dissection pincers; it was dissected to gain access to the infratemporal fossa and the two fascicles of the LPM. The superior fascicle (SF) originated on the infratemporal face of the greater wing of the sphenoid, and on the superior third of the lateral face of the lateral lamina of the pterygoid process of the sphenoid in 26 samples. In 12 samples, it originated on the greater wing of the sphenoid and the infratemporal crest of the sphenoid. Type I insertion was found in 20 samples, Type II in 6 samples and Type III in 12 samples. In all the samples analysed, the inferior fascicle (IF) originated on the inferior two thirds of the lateral face of the lateral lamina of the pterygoid process and on the lateral face of the pyramidal process of the palatine, with insertion on the pterygoid fovea. The accessory fascicle (AF) of the LPM was present in 6 samples. The AF originated on the greater wing of the sphenoid in 2 cases and inferior to the superior fascicle in 4 cases; its insertion was on the capsular disc complex in all cases. The results obtained in our study contribute anatomical data on the LPM in Brazilian adult individuals, with evaluation of its insertion points.

El músculo pterigoideo lateral (MPL) presenta íntima relación con la articulación temporomandibular (ATM) y desempeña un rol importante en la fisiología de esta articulación, despertando el interés de investigadores que se dedican al estudio de los trastornos temporomandibulares. La literatura señala que existen variaciones anatómicas del MPL, con respecto a la inserción del fascículo superior. Los estudios cadavéricos e imagenológicos han revelado que el MPL puede presentar un fascículo accesorio. El objetivo del estudio fue realizar un análisis macroscópico del MPL, examinando el origen e inserción de sus fascículos superior e inferior. Se utilizaron 38 hemicabezas de individuos adultos fijadas en formaldehído al 10 %. Para realizar el análisis macroscópico del MPL se realizó inicialmente una incisión a lo largo del margen inferior del arco cigomático, luego se seccionó el origen del músculo masétero separando su inserción en la cara lateral de la rama de la mandíbula, retrayendo al músculo en sentido posteroinferior. Se hicieron dos cortes en el arco cigomático y con pinzas de disección se identificó la inserción del músculo temporal en el proceso coronoides, el cual se seccionó para ingresar a la fosa infratemporal y acceder a ambos fascículos del MPL. El fascículo superior (FS) del MPL se originó en la cara infratemporal del ala mayor del esfenoides y en el tercio superior de la cara lateral de la lámina lateral del proceso pterigoides del esfenoides en 26 muestras. En 12 muestras se originó en el ala mayor del esfenoides y cresta infratemporal del esfenoides. Con relación a su inserción, se encontró el Tipo I en 20 muestras; el Tipo II en 6 muestras y el Tipo III en 12 muestras. En todas las muestras analizadas el origen del fascículo inferior (FI) del MPL fue en los dos tercios inferiores de la cara lateral de la lámina lateral del proceso pterigoides y en la cara lateral del proceso piramidal del palatino insertándose en la fóvea pterigoidea. El fascículo accesorio (FA) del MPL estuvo presente en 6 muestras. El FA se originó en el ala mayor del esfenoides en 2 casos e inferior al fascículo superior en 4 casos y su inserción, en el complejo disco capsular en todos los casos. Mediante los resultados obtenidos en nuestro estudio estamos aportando datos anatómicos en relación al MPL en individuos brasileños adultos, evaluándolo con respecto a sus lugares de inserción.

Morphological Variations of Lumbrical Muscles of Hand in Sri Lankan Cadavers

Introduction: Lumbricals are the small, worm-like, intrinsic muscles responsible for performing the precision pinch movements of the hand. These are quite unique in their position owing to movable proximal and distal tendon attachments. Purpose of the study: The aim of the study was to identify anomalies of lumbrical muscle present in the Sri Lankan people. Materials and Methods: A sample of 39 formalin preserved cadaveric human hands were subjected to the gross morphological study. Results: It was encountered that 59% of the lumbricals were normal in proximal and distal attachments whereas the rest of the lumbicals (41%) indicated the morphological variations. Among the hands, unipennate third lumbrical was seen in 7.7% (Left-15.7%: Right 0%) and unipennate fourth lumbrical was seen in 5.1% (Left10.5%: Right 0%). The bipennate second lumbrical was seen in 5.1% (Left 5.3%: Right 5.1%). The 10.3% of split insertion was encountered in third lumbricals (Left 10.5%: Right 10%) as well as in fourth lumbricals (Left 5.3%: Right 15%). The third lumbrical insertion on the medial side of the middle finger was seen in 2.5% (Left 5.3%: Right 0%). Conclusion: The left hand is having more lumbrical variations than the right hand of the subjected human cadavers. The most common variation site is the insertion site. The variants are numerous in third and fourth lumbricals. The most common type of variation is the split insertion.

Persistence of Ventrolateral Splanchnic Longitudinal Channels

The coeliac trunk is the branch of the abdominal aorta at the level of the twelfth thoracic vertebra. Its branches namely left gastric, common hepatic and splenic arteries supply the primary organs of the supracolic abdominal compartment namely the stomach, pancreas, spleen and liver. In this article, we report case series of three cases in male cadavers aged 65yrs, 60yrs and 70yrs respectively in the Department of Anatomy, Pondicherry Institute of Medical Sciences and MVJ Medical College and Research Institute wherein we discovered that the branching pattern of the coeliac trunk varied from the usual pattern, thus the specimens were photographed to understand further. The observation of first case, common trunk from abdominal aorta showed common hepatic and superior mesenteric artery and left gastric and splenic artery aroused as another common trunk from abdominal aorta. The second case showed the superior mesenteric artery arising from coeliac trunk and the third case was observed the inferior phrenic arteries were arising from coeliac trunk. Knowledge of this variable anatomy may be useful in planning and executing surgical or radiological interventions.

Anatomical Variations of the Sinonasal Area and Their Clinical Impact on Sinus Pathology: A Systematic Review

Abstract Introduction Anatomical variations of the nasal cavity and of the paranasal sinuses are frequently encountered and play an important role in dysfunctional drainage of sinuses. However, it is not clear in the literature whether they predispose to sinus pathology. Objectives The aim of the present review is to summarize the understanding of the association between anatomical variations of the sinonasal area and sinus pathology. Data Synthesis The present review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. We performedathorough research on PubMed from October2004 until May 2020 byusing the search terms paranasal sinus anatomical variations and sinus disease, sinusitis, and mucosal disease. Thirty studies were eligible and were included in the analysis. Overall, the studies encompassed a total of 6,999 patients included in the present review. In many studies, it has been statistically established that certain anatomical variations increase the risk of sinus disease. On the other hand, the rest of the collected studies failed to show any statistically significant correlation between anatomical variants and sinus pathology. Conclusion The present study highlights the possible correlation between some anatomical variations of the sinonasal area and pathologies of the paranasal sinuses. Careful assessment and computed tomography (CT) in patients with chronic rhinosinusitis is needed, especially in those undergoing endoscopic surgery, to identify and treat anatomical variations in the paranasal sinuses that may be correlated with rhinosinusitis. Due to contradictory results in the literature, further research is needed to elucidate the effects of anatomical variants of the sinonasal area.

CBCT Evaluation of Unilateral Accessory Mental Foramina: Under Reported Anatomic Variant in Children

ABSTRACT: The following manuscript presents two paediatric cases with incidental finding of unilateral accessory mental foramina. Both the cases illustrate CBCT evaluation of a unilateral accessory foramina on the left side of the mandible, one of which, is a 12-year-old baby girl with pre-diagnosed medical history of precocious puberty and oral findings of supernumerary teeth and the other is an 8-year-old boy with oral bifurcation cyst. The not so frequent presence of additional foramina and canals in the mandible are frequently undervalued in clinical procedures and to our knowledge has not yet been reported in paediatric cases in the literature so far. In these case reports, authors attempt to document a rare and first of its type ever reported anatomic variant of mandible in paediatric patients in the whole literature.

RESUMEN: El manuscrito presenta dos casos pediátricos con hallazgo incidental de forámenes mentonianos accesorios unilaterales. Ambos casos se refieren a la evaluación CBCT de un foramen accesorio unilateral en el lado izquierdo de la mandíbula, uno de los cuales era una niña de 12 años con antecedentes medicos prediagnosticados de pubertad precoz y hallazgos orales de dientes supernumerarios y el otro un niño de 8 años con quiste de bifurcación bucal. La presencia no tan frecuente de forámenes y canales adicionales en la mandíbula se subestima con frecuencia en los procedimientos clínicos y, hasta donde sabemos, aún no se ha informado en casos pediátricos en la literatura hasta el momento. En esta serie de casos, los autores intentan documentar una variante anatómica rara y primera de su tipo de la mandíbula en pacientes pediátricos en toda la literatura.