Hasil untuk "Human anatomy"

Eriko Fujita-Jimbo, Genri Kawahara, Takashi Momoi

Autism spectrum disorder (ASD) and speech and language disorder (SLD) are distinct neurodevelopmental conditions, yet both share overlapping communication impairments. Forkhead box P2 (FOXP2), a key transcription factor involved in speech and language development, harbors pathogenic mutations such as R553H, which cause SLD and have been suggested to contribute to aspects of ASD-related phenotypes. This review synthesizes insights from animal models to explore the molecular mechanisms by which Foxp2 mutations disrupt the development of the cerebral cortex, thalamus, and enteric nervous system. We highlight findings from heterozygous Foxp2 mutants and discuss severe phenotypes observed in homozygous Foxp2 mutants (Foxp2R552H/R552H and Foxp2R552H/R552H/mCherry-Tg mice), including profound ultrasonic vocalization deficits, brain malformations, and early lethality. Notably, these mice exhibit gastrointestinal abnormalities involving the epithelium, smooth muscle, and enteric nervous system, which are linked to impaired autoregulation and interference with Wnt signaling during development. Such observations underscore the relevance of the brain–gut–microbiome axis and Hirschsprung-like pathology in neurodevelopmental disorders. Finally, this review discusses future directions using gene-editing approaches in non-mammalian models—zebra finches, zebrafish, and Drosophila—to dissect neural networks underlying intellectual disability and communication deficits. Collectively, these studies provide a framework for understanding FOXP2-related molecular mechanisms in the pathogenesis of ASD and SLD.

Mudan Zhang, Yan Yu, Baofei Sun et al.

BACKGROUND Traditional anatomical education often lacks clinical application. This study aimed to investigate the feasibility of clinical-relevant education in the anatomy curriculum. METHODS A total of 109 4th-year and 5th-year undergraduate medical students, including 8 international students, completed the questionnaire. The questionnaire comprised 20 questions divided into 5 sections, resulting in 109 responses collected for all questions. Students enrolled in the 5-year program at Guizhou Medical University in 2019 ( n  = 27) and 2020 ( n  = 30) were included in the clinical-relevant education evaluation in the anatomy curriculum. RESULTS The questionnaire return rate was 100%. Approximately 40.4% of undergraduate medical students expressed neutrality or dissatisfaction with the traditional anatomy teaching methods. Most students felt that the methodology overly emphasized theory while neglecting clinical experience. Over half had not taken advantage of clinical opportunities offered by the university, and only 58.7% felt adequately prepared with anatomical knowledge for clinical work. Forty-four percent had not systematically reviewed the dissection laboratory after starting clinical practice. However, the majority strongly supported the need for clinical experiential education, with abdominal surgical observation being the most preferred type. In the “Human Anatomy” course, average daily scores for students enrolled in 2019 and 2020 were 89.6 ± 1.4 and 90.9 ± 2.3 ( P  < .05), respectively. For “Regional Anatomy” averages were 88.8 ± 3.6 and 91.5 ± 0.7 ( P  < .001). The final scores for “Human Anatomy” were 67.7 ± 10.6 and 81.0 ± 7.6 ( P  < .0001), while “Regional Anatomy” scores were 92.4 ± 3.9 and 96.3 ± 3.0 ( P  < .0001). CONCLUSIONS This study highlights students’ dissatisfaction with their anatomical knowledge and the traditional anatomical education. Our reform demonstrates the positive impact of the clinical-relevant learning anatomy curriculum we are currently implementing.

Kazuya Ouchi, Kazuya Ouchi, Shinya Yamamoto et al.

Resting-state networks (RSNs) have been used as biomarkers of brain diseases and cognitive performance. However, age-related changes in the RSNs of macaques, a representative animal model, are still not fully understood. In this study, we measured the RSNs in macaques aged 3–20 years and investigated the age-related changes from both functional and structural perspectives. The proportion of structural connectivity in the RSNs relative to the total fibers in the whole brain significantly decreased in aged macaques, whereas functional connectivity showed an increasing trend with age. Additionally, the amplitude of low-frequency fluctuations tended to increase with age, indicating that resting-state neural activity may be more active in the RSNs may increase with age. These results indicate that structural and functional alterations in typical RSNs are age-dependent and can be a marker of aging in the macaque’s brain.

Milena Trandafilović, Miroslav Milić, Aleksandra Antović et al.

BACKGROUND: Some variations of the cerebral arterial circle (CAC) are associated with an increased risk for the development of various pathological conditions. This paper aimed to determine the prevalence of hypoplastic arteries of CAC and to emphasize the limited possibility of their visualization by computed tomography angiography (CTA). MATERIALS AND METHODS: The research was performed on 400 adult cadavers by macro- and microdissection of the cerebral arteries. Each case was photographed and the diameter of the arteries was measured digitally, by analysing photographs of the bases of the brain in the ImageJ program. RESULTS: The largest prevalence of artery diameter < 1 mm (< 0.6 mm) in CAC had the posterior communicating artery (PCoA). PCoA on the left side was hypoplastic in 44.9% (11.4%) of cases, while the same artery on the right side was hypoplastic in 44.3% (6.6%) of cases. The posterior cerebral artery was hypoplastic on the left side in 3% (0.6%) and on the right side in 4.2% (0.6%) of cases. The anterior cerebral artery had a hypoplastic calibre only on the right side in 2.4% (0.6%) of the cases, while the internal carotid arteries did not have a diameter < 1 mm in any case. The anterior communicating artery showed the greatest variability in morphology. Studies on CTA describe the occurrence of aplasia in a statistically significantly higher percentage, and the occurrence of hypoplastic arteries in a statistically significantly lower percentage compared to studies on cadavers. CONCLUSIONS: Due to significant differences between cadaveric and radiological studies, it is necessary to analyse their results regarding arterial hypoplasia and aplasia separately. A diameter of less than 1 mm has been suggested as a criterion for arterial hypoplasia.

Bojan Rojc, Nejc Šarabon

Neuralgic Amyotrophy, a peripheral nervous system disorder, is characterized by severe pain and muscle weakness, which can have a significant impact on patients' quality of life. The exact cause of neuralgic amyotrophy is unknown, but it may be linked to immunopathological mechanisms. Recent research has found an association between neuralgic amyotrophy and hepatitis E virus infection. This communication aims to expand knowledge on the clinical phenotype of patients with neuralgic amyotrophy and hepatitis E virus infection, presenting the case of a 55-year-old man diagnosed with bilateral neuralgic amyotrophy and hepatitis E virus infection.

Irina A. Bulankina, Tamara I. Shalina, Vladimir G. Izatulin et al.

An excellent teacher and mentor Galina Mikhailovna Globenko has been working at the Department of Human Anatomy, Operative Surgery and Forensic Medicine of Irkutsk State Medical University for more than half a century. Galina Mikhailovna was born on February 21, 1944 in the village of Tumanny, Srednekansky district, Khabarovsk Territory.She spent her childhood and primary school years in Chukotka, in the city of Pevek and in the village of Bodaibo, where Galina Mikhailovna graduated from high school and in 1961 entered the Irkutsk State Medical Institute.After graduating from medical institute, Galina Mikhailovna was invited to the department of normal human anatomy, where she proved herself to be a conscientious and responsible worker, actively participated in the work of the department’s team, continued her education in graduate school and soon defended her Ph.D. thesis.During her career, Galina Mikhailovna went from assistant to associate professor of the department, was secretary of the Bureau of Rationalization and Invention, and worked in the dean’s office of the medical faculty of the medical university.

Max A. Laansma, Yuji Zhao, Eva M. van Heese et al.

Abstract Alterations in subcortical brain regions are linked to motor and non-motor symptoms in Parkinson’s disease (PD). However, associations between clinical expression and regional morphological abnormalities of the basal ganglia, thalamus, amygdala and hippocampus are not well established. We analyzed 3D T1-weighted brain MRI and clinical data from 2525 individuals with PD and 1326 controls from 22 global sources in the ENIGMA-PD consortium. We investigated disease effects using mass univariate and multivariate models on the medial thickness of 27,120 vertices of seven bilateral subcortical structures. Shape differences were observed across all Hoehn and Yahr (HY) stages, as well as correlations with motor and cognitive symptoms. Notably, we observed incrementally thinner putamen from HY1, caudate nucleus and amygdala from HY2, hippocampus, nucleus accumbens, and thalamus from HY3, and globus pallidus from HY4–5. Subregions of the thalami were thicker in HY1 and HY2. Largely congruent patterns were associated with a longer time since diagnosis and worse motor symptoms and cognitive performance. Multivariate regression revealed patterns predictive of disease stage. These cross-sectional findings provide new insights into PD subcortical degeneration by demonstrating patterns of disease stage-specific morphology, largely consistent with ongoing degeneration.

Carmelo Pirri, Debora Emanuela Torre, Astrid Ursula Behr et al.

With an incidence of over 1.5 million worldwide per annum, breast cancer continues to be the most common cancer affecting the female population. The main and most effective treatment in over 40% of these patients is a primary neoplasm resection. General anaesthesia, at times in association with loco-regional anaesthetics, is the most commonly used anaesthesia technique for radical mastectomies. Nausea, vomiting, and considerable postoperative pain, which are commonly experienced side effects and complications of general anaesthesia, tend, however, to augment most patients’ post-surgical morbidity. A growing body of research has shown that loco-regional anaesthesia often used together with and, in some cases, in the substitution of general anaesthesia can be a safe, effective alternative. This work is a case report regarding a 94-year-old elderly patient who was anaesthetised during a left radical mastectomy using exclusively combined interpectoral and pectoserratus plane blocks.

Nuratiqah Farah, Voon Kin Chin, Pei Pei Chong et al.

Riboflavin, or more commonly known as vitamin B2, forms part of the component of vitamin B complex. Riboflavin consisting of two important cofactors, flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), which are involved in multiple oxidative-reduction processes and energy metabolism. Besides maintaining human health, different sources reported that riboflavin can inhibit or inactivate the growth of different pathogens including bacteria, viruses, fungi and parasites, highlighting the possible role of riboflavin as an antimicrobial agent. Moreover, riboflavin and flavins could produce reactive oxygen species (ROS) when exposed to light, inducing oxidative damage in cells and tissues, and thus are excellent natural photosensitizers. Several studies have illustrated the therapeutic efficacy of photoactivated riboflavin against nosocomial infections and multidrug resistant bacterial infections as well as microbial associated biofilm infections, revealing the potential role of riboflavin as a promising antimicrobial candidate, which could serve as one of the alternatives in fighting the global crisis of the emergence of antimicrobial resistance seen in different pathogenic microbes. Riboflavin could also be involved in modulating host immune responses, which might increase the pathogen clearance from host cells and increase host defense against microbial infections. Thus, the dual effects of riboflavin on both pathogens and host immunity, reflected by its potent bactericidal effect and alleviation of inflammation in host cells further imply that riboflavin could be a potential candidate for therapeutic intervention in resolving microbial infections. Hence, this review aimed to provide some insights on the promising role of riboflavin as an antimicrobial candidate and also a host immune-modulator from a multi-perspective view as well as to discuss the application and challenges on using riboflavin in photodynamic therapy against various pathogens and microbial biofilm-associated infections.

Simeon Kofman, Neha Mohan, Xiaohuan Sun et al.

Engineered three-dimensional (3D) in vitro and ex vivo neural tissues, also known as “mini brains and spinal cords in a dish,” can be derived from different types of human stem cells via several differentiation protocols. In general, human mini brains are micro-scale physiological systems consisting of mixed populations of neural progenitor cells, glial cells, and neurons that may represent key features of human brain anatomy and function. To date, these specialized 3D tissue structures can be characterized into spheroids, organoids, assembloids, organ-on-a-chip and their various combinations based on generation procedures and cellular components. These 3D CNS models incorporate complex cell-cell interactions and play an essential role in bridging the gap between two-dimensional human neuroglial cultures and animal models. Indeed, they provide an innovative platform for disease modeling and therapeutic cell replacement, especially shedding light on the potential to realize personalized medicine for neurological disorders when combined with the revolutionary human induced pluripotent stem cell technology. In this review, we highlight human 3D CNS models developed from a variety of experimental strategies, emphasize their advances and remaining challenges, evaluate their state-of-the-art applications in recapitulating crucial phenotypic aspects of many CNS diseases, and discuss the role of contemporary technologies in the prospective improvement of their composition, consistency, complexity, and maturation.

Misganaw Gebrie Worku, Getayeneh Antehunegn Tesema, Achamyeleh Birhanu Teshale

Abstract Background Despite efforts made to reduce the spread of the human immune-deficiency virus (HIV), its testing coverage remains low in low and middle-income countries (LMIC). Besides, information on factors associated with HIV counseling and testing among reproductive-age women is not sufficiently available. Therefore, this study was aimed to determine the pooled prevalence and factors associated with HIV testing among reproductive-age women in eastern Africa. Methods Secondary data analysis was conducted based on the Demographic and Health Surveys (DHS) data conducted in East African countries. We pooled the most recent DHS surveys done in 11 East African countries. A total weighted sample of 183,411 reproductive-age women was included for this study. Both bivariable and multivariable multilevel logistic regression models were fitted. Variables with a p-value ≤0.2 in the bivariable analysis were selected for multivariable analysis. Finally, in the multivariable analysis, variables with a p-value ≤0.05 were considered as significant factors affecting HIV testing. Results The pooled prevalence of HIV testing in eastern Africa was 66.92% (95%CI: 66.70, 67.13%). In the multivariable multilevel analysis factors such as the age of respondent, marital status, educational level, HIV knowledge, HIV stigma indicator, risky sexual behavior and women who visit a health facility were positively associated with HIV testing coverage among reproductive-age women. While women from rich and richest households, having multiple sexual partners, being from rural dwellers, late initiation of sex and higher community illiteracy level had a lower chance of being tested for HIV. Conclusion The pooled prevalence of HIV testing in eastern Africa was higher than most previous studies. Age of respondent, residence, wealth index, marital status, educational level, HIV knowledge, stigma indicator, risky sexual behavior, women who visit a health facility, multiple sexual partnerships, early initiation of sex and community illiteracy level were significantly associated with HIV testing. There should be an integrated strategic plan to give education about methods of HIV transmission and the implication of HIV testing and counseling. So all the stakeholders should have an integrated approach by giving special attention to the factors that hinder HIV testing to increase awareness regarding the benefit of HIV testing and counseling to control the spread of HIV/AIDS.

Youqin Xu, Wancheng Chen, Jing Liang et al.

Abstract Background Phosphatidylinositol-4-phosphate-binding protein GOLPH3L is overexpressed in human ductal carcinoma of the breast, and its expression levels correlate with the prognosis of breast cancer patients. However, the roles of GOLPH3L in breast tumorigenesis remain unclear. Methods We assessed the expression and biological function of GOLPH3L in breast cancer by combining bioinformatic prediction, metabolomics analysis and RNA-seq to determine the GOLPH3L-related pathways involved in tumorigenesis. Dual-luciferase reporter assay and coimmunoprecipitation (Co-IP) were used to explore the expression regulation mechanism of GOLPH3L. Results We demonstrated that knockdown of GOLPH3L in human breast cancer cells significantly suppressed their proliferation, survival, and migration and suppressed tumor growth in vivo, while overexpression of GOLPH3L promoted aggressive tumorigenic activities. We found that miRNA-1185-2-3p, the expression of which is decreased in human breast cancers and is inversely correlated with the prognosis of breast cancer patients, is directly involved in suppressing the expression of GOLPH3L. Metabolomics microarray analysis and transcriptome sequencing analysis revealed that GOLPH3L promotes central carbon metabolism in breast cancer by stabilizing the p53 suppressor SERPINE1. Conclusions In summary, we discovered a miRNA-GOLPH3L-SERPINE1 pathway that plays important roles in the metabolism of breast cancer and provides new therapeutic targets for human breast cancer.

Akinyemi Ademola Omoniyi, Samuel Sunday Adebisi, Sunday Abraham Musa et al.

Lassa virus, an arenavirus, represents the most prevalent human pathogen causing viral hemorrhagic fever. It is endemic in Nigeria and other West African countries. Despite the high burden of the disease, limited treatments are available and no approved vaccine for the prevention of this disease is available. In this study, an Immunoinformatics and reverse vaccinology pipeline was employed to predict a multi-epitope vaccine. Four fundamental virulent and proteogenic proteins (glycoprotein precursor, Viral matrix protein, viral RNA polymerase, and Nucleoprotein) were identified. Using various immunoinformatics tools, 12 CTL, 14 HTL, and six B-cell epitopes were predicted and connected via suitable linkers, together with an adjuvant to develop a 602 amino acids long vaccine construct (VC). The VC was assessed to be non-allergenic, non-toxic, stable, soluble, and highly antigenic. Molecular docking of VC with RIG-I, major histocompatibility complex class I and class II were carried out to validate the interactions with the receptors. The complex of VC-RIG-I was subjected to a dynamic stability test and the RMDS and RMSF results suggest that the complex is stable. Validation of the final vaccine construct was done through in silico cloning using E. coli as a host. A CAI value of 0.99 suggests that the vaccine construct expressed properly in the host. The immune simulation predicted significantly high levels of IgG1, T-helper, T-cytotoxic cells, INF-γ, and IL-2. This rigorous computational study suggests infection control by creating an effective immunological memory against Lassa virus infections. However, both in vitro and in vivo experiments are needed to validate the potential of the proposed vaccine.

Elias Messo, Carlo F. Grottoli, Giuseppe Perale et al.

The presence of non-sufficient bone height and width requires an increase in the amount of bone available to insert an implant. Different materials are described in the literature, and the “custom-made bone graft approach” is a modern option which currently requires a preoperative stage of studying the bone defect and designing the implant. SmartBone^® (SB^®) mimics the characteristics of healthy human bone. Thanks to the strong performance, high workability, resistance and shape retention of SB^®, it is possible to obtain SmartBone^® on Demand^TM, a bone graft uniquely shaped exactly to patient specifications, produced by following the data precisely and contoured to the bone defect site. The aim of this study was to determine the success over 7 years following a customized SmartBone^® on Demand^TM, a xeno-hybrid bone graft and installation of implants in a maxillary horizontal and vertical atrophy. This case study presents the diagnosis for a 60-year-old male patient requesting the rehabilitation of his edentulous maxilla with dental implants. Preoperative evaluation included the study of photographs, a radiological examination and 3D reconstruction to assess the missing bone, implant size, positioning of implants and anatomical landmarks. Rehabilitation included the insertion of a custom-made xeno-hybrid bone block into the maxilla in order to restore the anatomy prior to the implants’ placement. The newly developed bone substitute SB^® is a safe and effective material, and its custom-made variant SmartBone^® on Demand^TM has been shown to be a valid alternative to traditional autologous bone grafting techniques in terms of accuracy, absence of infection/rejection and overall clinical outcome.

Azeez A. Alade, Carmen J. Buxo‐Martinez, Peter A. Mossey et al.

Abstract Background The development of the face occurs during the early days of intrauterine life by the formation of facial processes from the first Pharyngeal arch. Derangement in these well‐organized fusion events results in Orofacial clefts (OFC). Van der Woude syndrome (VWS) is one of the most common causes of syndromic cleft lip and/or palate accounting for 2% of all cases. Mutations in the IRF6 gene account for 70% of cases with the majority of these mutations located in the DNA‐binding (exon 3, 4) or protein‐binding domains (exon 7–9). The current study was designed to update the list of IRF6 variants reported for VWS by compiling all the published mutations from 2013 to date as well as including the previously unreported VWS cases from Africa and Puerto Rico. Methods We used PubMed with the search terms; "Van der Woude syndrome," “Popliteal pterygium syndrome,” "IRF6," and "Orofacial cleft" to identify eligible studies. We compiled the CADD score for all the mutations to determine the percentage of deleterious variants. Results Twenty‐one new mutations were identified from nine papers. The majority of these mutations were in exon 4. Mutations in exon 3 and 4 had CADD scores between 20 and 30 and mutations in exon 7–9 had CADD scores between 30 and 40. The presence of higher CADD scores in the protein‐binding domain (exon 7–9) further confirms the crucial role played by this domain in the function of IRF6. In the new cases, we identified five IRF6 mutations, three novel missense mutations (p.Phe36Tyr, p.Lys109Thr, and p.Gln438Leu), and two previously reported nonsense mutations (p.Ser424*and p.Arg250*). Conclusion Mutations in the protein and DNA‐binding domains of IRF6 ranked among the top 0.1% and 1% most deleterious genetic mutations, respectively. Overall, these findings expand the range of VWS mutations and are important for diagnostic and counseling purposes.

Samta Tiwari, S K Pandey

Introduction: Propylthiouracil, an antithyroid drug, is used to treat hyperthyroidism in early pregnancy as drug of choice. Maternal and fetal morbidities and mortalities occur, if hyperthyroidism is not treated during pregnancy. Aim: The teratogenic potential of propylthiouracil is studied by observing the placental changes in Swiss albino mice, in the light of present research. Materials and Methods: 100 mg/kg body weight/day of propylthiouracil was given orally to pregnant Swiss albino mice (treated group) during early gestational period (6, 7, and 8th days of gestation), while control pregnant mice were given the same volume of distilled water orally for the same duration. The pregnant mice of all groups were sacrificed on 18th day of gestation and placentae were collected. The placentae were grossly examined, formalin fixed, and processed for histological study with H and E staining. Results: Histological examination shows edematous spaces and degenerated normal architecture of the various zones, i.e., labyrinthine, junctional, and basal zones. There was increase in the thickness of chorioallantoic plate and degeneration of giant cell trophoblasts and sinusoids. Conclusion: It was found that the propylthiouracil had a teratogenic effect; therefore, it should be used cautiously during pregnancy to avoid risk of congenital malformations.

Mathew John Wedel

Despite the perception that human anatomy is a completed science, new discoveries continue to be reported. Some merely expand the previously known range of human variation, but others are gross structures present in most people, which simply escaped detection until recently. An analysis of recent discoveries suggests several avenues along which new discoveries might be sought: 1. Anatomically complex regions with multiple potential distractors: the anterolateral ligament of the knee escaped widespread appreciation until 2013, probably because the human knee is a forbiddingly complex structure that is rarely dissected completely, and several superficially similar structures are present in the same area. 2. Common characters of other taxa expressed as rare variants in humans: vagus nerve fibers to the trachea and esophagus are typically incorporated into the recurrent laryngeal nerve in humans, but form a separate pararecurrent nerve in some other mammals, and rarely in humans. 3. Replaced peripheral nerves: nerve fibers from the 4 th lumbar spinal level to the leg are usually incorporated into the femoral nerve, but in rare cases become part of the obturator nerve. In such cases, the posterior branch of the saphenous nerve appears to have been replaced by the obturator nerve. Similar replacements in other regions of the body are underexplored. Most recent discoveries fall into a perceptual blind spot: medical students dissecting human cadavers have the opportunity to find these structures, but usually lack the expertise to recognize or preserve them. In contract, surgeons have the necessary expertise, but rarely have the opportunity to open people up sufficiently to identify or trace these structures. If new discoveries remain to be made even in the well-trod ground of human anatomy, then many more surely await discovery in extant and extinct non-humans, and these guidelines may prove useful in other taxa as well.

John E. Morley

Fanny Tréchot, Marc Braun, Frédérique Claudot

Adil Al-Jarrah, Varna Taranikanti, Sukhpal Sawhney et al.

Breast cancer is known to metastasise to different organs in the body, but an initial presentation of breast cancer with loin pain secondary to a metastatic renal mass is extremely rare. We report a 58-year-old woman who presented with recurrent left loin pain due to a metastatic deposit of invasive lobular carcinoma of the breast. The detection of a renal mass on computed tomography led to the assumption of a renal pelvic malignancy. The diagnostic dilemma posed by the detection of a breast mass during staging and the usefulness of immunohistochemistry in the confirmation of diagnosis are discussed.