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Frontiers in Neuroscience 2024The remarkable diversity observed in the structure and development of the molluscan nervous system raises intriguing questions regarding the molecular mechanisms...
INTRODUCTION
The remarkable diversity observed in the structure and development of the molluscan nervous system raises intriguing questions regarding the molecular mechanisms underlying neurogenesis in . The expression of SoxB family transcription factors plays a pivotal role in neuronal development, thereby offering valuable insights into the strategies of neurogenesis.
METHODS
In this study, we conducted gene expression analysis focusing on SoxB-family transcription factors during early neurogenesis in the gastropod . We employed a combination of hybridization chain reaction in situ hybridization (HCR-ISH), immunocytochemistry, confocal microscopy, and cell proliferation assays to investigate the spatial and temporal expression patterns of and from the gastrula stage to hatching, with particular attention to the formation of central ring ganglia.
RESULTS
Our investigation reveals that demonstrates expanded ectodermal expression from the gastrula to the hatching stage, whereas expression of in the ectoderm ceases by the veliger stage. is expressed in the ectoderm of the head, foot, and visceral complex, as well as in forming ganglia and sensory cells. Conversely, is mostly restricted to the subepithelial layer and forming ganglia cells during metamorphosis. Proliferation assays indicate a uniform distribution of dividing cells in the ectoderm across all developmental stages, suggesting the absence of distinct neurogenic zones with increased proliferation in gastropods.
DISCUSSION
Our findings reveal a spatially and temporally extended pattern of SoxB1 expression in a gastropod representative compared to other lophotrochozoan species. This prolonged and widespread expression of SoxB genes may be interpreted as a form of transcriptional neoteny, representing a preadaptation to prolonged neurogenesis. Consequently, it could contribute to the diversification of nervous systems in gastropods and lead to an increase in the complexity of the central nervous system in .
PubMed: 38638695
DOI: 10.3389/fnins.2024.1346610 -
International Medical Case Reports... 2024Intranasal mucosal melanoma is a rare form of melanoma. Presenting as the features of occult malignancy and rapid in its progression. Presented with nonspecific...
BACKGROUND
Intranasal mucosal melanoma is a rare form of melanoma. Presenting as the features of occult malignancy and rapid in its progression. Presented with nonspecific symptoms. So far, no specific risk factor has been identified. The histopathological and immunohistochemical examination helps to confirm the diagnosis. Here, we present a case of primary intranasal melanotic mucosal melanoma and literature review.
CASE REPORT
The authors present a patient with primary right intranasal melanotic mucosal melanoma.
CONCLUSION
An endoscopic medial maxillectomy was done, and the patient was linked to the oncology department for radiotherapy.
PubMed: 38638194
DOI: 10.2147/IMCRJ.S458817 -
BMJ Case Reports Apr 2024Aplasia cutis congenita (ACC) is a group of rare heterogeneous disorders characterised by absent areas of skin at birth. The majority of cases involve the scalp region....
Aplasia cutis congenita (ACC) is a group of rare heterogeneous disorders characterised by absent areas of skin at birth. The majority of cases involve the scalp region. ACC limited to one lower limb is extremely rare. We report an usual case of ACC limited to the left thigh of which healing occurred in utero. The case was managed conservatively and the disease course has been favourable with no limitations in limb function and an entirely normal development. Most cases of ACC are self-healing, justifying a conservative approach. This holds further true for ACC limited to one lower limb where the majority of cases reported to date show a favourable disease course with minimal conservative treatment.
Topics: Infant, Newborn; Humans; Conservative Treatment; Ectodermal Dysplasia; Lower Extremity; Skin; Scalp; Disease Progression; Rare Diseases
PubMed: 38631814
DOI: 10.1136/bcr-2023-257572 -
Quantitative Imaging in Medicine and... Apr 2024
PubMed: 38617155
DOI: 10.21037/qims-23-1429 -
Toxicology in Vitro : An International... Apr 2024Human induced pluripotent stem cells (iPSC) have the potential to produce desired target cell types in vitro and allow for the high-throughput screening of...
Human induced pluripotent stem cells (iPSC) have the potential to produce desired target cell types in vitro and allow for the high-throughput screening of drugs/chemicals at population level thereby minimising the cost of drug discovery and drug withdrawals after clinical trials. There is a substantial need for the characterisation of the iPSC derived models to better understand and utilise them for toxicological relevant applications. In our study, iPSC (SBAD2 or SBAD3 lines obtained from StemBANCC project) were differentiated towards toxicologically relevant cell types: alveolar macrophages, brain capillary endothelial cells, brain cells, endothelial cells, hepatocytes, lung airway epithelium, monocytes, podocytes and renal proximal tubular cells. A targeted transcriptomic approach was employed to understand the effects of differentiation protocols on these cell types. Pearson correlation and principal component analysis (PCA) separated most of the intended target cell types and undifferentiated iPSC models as distinct groups with a high correlation among replicates from the same model. Based on PCA, the intended target cell types could also be separated into the three germ layer groups (ectoderm, endoderm and mesoderm). Differential expression analysis (DESeq2) presented the upregulated genes in each intended target cell types that allowed the evaluation of the differentiation to certain degree and the selection of key differentiation markers. In conclusion, these data confirm the versatile use of iPSC differentiated cell types as standardizable and relevant model systems for in vitro toxicology.
PubMed: 38615723
DOI: 10.1016/j.tiv.2024.105826 -
Journal of Family Medicine and Primary... Feb 2024Malignant melanoma originates from melanoma cells, which derive from the neuroectoderm of the ectodermal mucosa. The chameleonic presentation of malignant melanoma, its...
Malignant melanoma originates from melanoma cells, which derive from the neuroectoderm of the ectodermal mucosa. The chameleonic presentation of malignant melanoma, its often asymptomatic nature, the rarity of the lesion, the grim prognosis, and the imperative for highly specialized treatment are critical factors that merit careful consideration. Herein, we report a compilation of five cases of malignant melanomas occurring at unusual anatomical locations, which were initially misdiagnosed, which on careful analysis with the use of immuno-histochemical stains were correctly diagnosed as malignant melanoma.
PubMed: 38605775
DOI: 10.4103/jfmpc.jfmpc_1778_23 -
Ear, Nose, & Throat Journal Apr 2024Hairy polyps, considered a highly unusual congenital anomaly of the pharynx, are believed by many scholars to arise from the ectoderm and mesoderm during the embryonic...
Hairy polyps, considered a highly unusual congenital anomaly of the pharynx, are believed by many scholars to arise from the ectoderm and mesoderm during the embryonic stage. These growths often have a pear or sausage shape, are pedunculated, and their size ranges between 0.5 and 6 cm. They are typically grayish white or pink in color. This article discusses a 12-year-old female who had a growth at the Eustachian tube's entrance on the left side of the nasopharyngeal wall, as identified by a computed tomography scan of the neck soft tissue; it was suspected to be a hairy polyp originating from the left Eustachian tube. The diagnosis of a hairy polyp was confirmed through pathology. The hairy polyp at the Eustachian tube, in this case, showed an irregular form with a wide base, making it look similar to an adenoid; thus, increasing the risk of it being misdiagnosed as residual adenoid tissue.
PubMed: 38605528
DOI: 10.1177/01455613241244667 -
The Journal of Clinical Endocrinology... Apr 2024APECED syndrome is a rare disease caused by biallelic mutations of the AIRE gene, usually presenting with the triad "hypoparathyroidism-adrenal failure-chronic...
BACKGROUND
APECED syndrome is a rare disease caused by biallelic mutations of the AIRE gene, usually presenting with the triad "hypoparathyroidism-adrenal failure-chronic mucocutaneous candidiasis (CMC)" and non-endocrine manifestations. The aim of this study was to determine the molecular profile of the AIRE gene, the prevalence of rare manifestations and to characterize immunological disturbances in a French cohort.
PATIENTS AND METHODS
A national, multicenter prospective observational study to collect genetic, clinical, biological and immunological data (NCT03751683).
RESULTS
25 patients (23 families) were enrolled. Eleven distinct AIRE variants were identified, two of which were not previously reported: an intronic variant, c.653-70G > A, and a c.1066del (p.Arg356GlyfsX22) variant (exon 9). The most common was the Finnish variant c.769C > T (16 alleles), followed by the variant c.967_979del13 (15 alleles), which seemed associated with a less severe phenotype. 17/25 patients were homozygote. The median number of clinical manifestations was seven; 19/25 patients presented with the hypoparathyroidism-adrenal failure-CMC triad, 8/13 showed pulmonary involvement, 20/25 had ectodermal dystrophy, 8/25 had malabsorption, and 6/23 had asplenia. Fifteen out of 19 patients had NK cell lymphopenia with an increase in CD4+ and CD8+ T lymphocytes and an age-dependent alteration of B lymphocyte homeostasis compared with matched controls (p < 0.001), related to the severity of the disease. All tested sera (n = 18) were positive for anti-interferon-α, 15/18 for anti-interleukin-22 antibodies, and 13/18 for anti-interleukin-17F antibodies, without clear phenotypic correlation other than with CMC.
CONCLUSION
This first prospective cohort showed a high AIRE genotype variability, with two new gene variants. The prevalence of potentially life-threatening non-endocrine manifestations, was higher with systematic screening. These manifestations could, along with age-dependent B-cell lymphopenia, contribute to disease severity. Systematic screening for all the manifestations of the syndrome would allow earlier diagnosis, supporting vaccination, and targeted therapeutic approaches.
PubMed: 38605470
DOI: 10.1210/clinem/dgae211 -
Plastic and Reconstructive Surgery.... Apr 2024Postaxial polydactyly is a common congenital foot anomaly. However, the severity of the anomaly varies from simple cases with only soft tissue duplication to complex...
BACKGROUND
Postaxial polydactyly is a common congenital foot anomaly. However, the severity of the anomaly varies from simple cases with only soft tissue duplication to complex cases with bone and joint disorders. In our clinical practice, we found a new morphological anomaly of postaxial polydactyly. We encountered several cases of postaxial polydactyly with bone fragments located between the fourth and fifth toes. The bone fragments were independent of the joint cavity. The mechanisms underlying its development remain unknown because it is a novel disorder. In the present study, we investigated the characteristics of the excess bone to formulate an embryological hypothesis.
METHODS
We examined the frequency and trends in the occurrence of excess bone using data from photographs and radiographs of these cases. An example of a disorder similar to excess bone is mosaic-like alignment, as reported by Iba et al. We also compared the characteristics of the mosaic-like alignment with those of the excess bone. Based on these data and existing embryological knowledge, we hypothesized the origin of the excess bone.
RESULTS
Excess bone and mosaic-like alignments showed different characteristics. Therefore, both were considered completely different disorders. We hypothesized that excess bone was caused by damage to the interdigital ectoderm immediately before interdigital programmed cell death.
CONCLUSIONS
We encountered a new form of postaxial polydactyly. This can be a factor influencing the treatment strategy because it can affect alignment and stability.
PubMed: 38596575
DOI: 10.1097/GOX.0000000000005717