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PLoS Biology Apr 2024As tissues grow and change shape during animal development, they physically pull and push on each other, and these mechanical interactions can be important for...
As tissues grow and change shape during animal development, they physically pull and push on each other, and these mechanical interactions can be important for morphogenesis. During Drosophila gastrulation, mesoderm invagination temporally overlaps with the convergence and extension of the ectodermal germband; the latter is caused primarily by Myosin II-driven polarised cell intercalation. Here, we investigate the impact of mesoderm invagination on ectoderm extension, examining possible mechanical and mechanotransductive effects on Myosin II recruitment and polarised cell intercalation. We find that the germband ectoderm is deformed by the mesoderm pulling in the orthogonal direction to germband extension (GBE), showing mechanical coupling between these tissues. However, we do not find a significant change in Myosin II planar polarisation in response to mesoderm invagination, nor in the rate of junction shrinkage leading to neighbour exchange events. We conclude that the main cellular mechanism of axis extension, polarised cell intercalation, is robust to the mesoderm invagination pull. We find, however, that mesoderm invagination slows down the rate of anterior-posterior cell elongation that contributes to axis extension, counteracting the tension from the endoderm invagination, which pulls along the direction of GBE.
Topics: Animals; Mesoderm; Gastrulation; Ectoderm; Myosin Type II; Drosophila melanogaster; Cell Polarity; Drosophila Proteins; Embryo, Nonmammalian; Morphogenesis; Body Patterning; Drosophila
PubMed: 38683880
DOI: 10.1371/journal.pbio.3002611 -
Radiology Case Reports Jul 2024Intracranial epidermoid cysts are benign, slow-growing congenital tumors of ectodermal origin. They are rare embryonal benign cystic masses with an incidence rate of...
Intracranial epidermoid cysts are benign, slow-growing congenital tumors of ectodermal origin. They are rare embryonal benign cystic masses with an incidence rate of approximately 0.04%-0.6% of intracranial tumors. Computed tomography (CT) and magnetic resonance imaging (MRI) are fundamental diagnostic tools providing valuable information for surgical management. We reported a 59-year-old male patient with right limb weakness twelve hours prior to admission, slurred speech, and paresis of the facial nerve. Based on history taking, physical examination, and radiology examinations, we concluded a diagnosis of non-communicated hydrocephalus due to a right cerebellar intra-axial tumor with a suspicion of low-grade glioma (Pylocitic Astrocytoma). CT and MRI in intracranial epidermoid cysts are fundamental diagnostic tools for diagnosing and obtaining helpful information for surgical planning. Intracranial epidermoid cysts appear as lobulated lesions filling and expanding CSF spaces and exerting a gradual mass effect, insinuating between structures and encasing adjacent nerves and vessels. In this case, we noted a hypodense lesion with irregular calcifications and well-defined on the right cerebellar region measuring 6.15 × 5.47 × 5.7 cm, surrounded by a hypodense image suggesting an intra-axial mass suspected of low-grade glioma with a differential diagnosis of brain abscess. The hypointense lesion on the T1WI sequence found in the MRI examination, with no significant contrast enhancement and restricted diffusion area on DWI, was one of the notable features described in the epidermoid cyst. Intracranial epidermoid cyst rarely occurs in the intracranial, resulting in many symptoms in this case, which should be diagnosed and treated promptly. Imaging aids in proper diagnosis and provides more valuable information for further treatment.
PubMed: 38680739
DOI: 10.1016/j.radcr.2024.03.061 -
European Journal of Medical Genetics Apr 2024Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly (TEBC) syndrome is a rare autosomal dominant condition, recently linked to the protein kinase D1...
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly (TEBC) syndrome is a rare autosomal dominant condition, recently linked to the protein kinase D1 (PRKD1) gene. The phenotype of TEBC remains incomplete at this point. Our aim is to improve the characterization of the clinical and molecular aspects of the TEBC syndrome. We report on the 8th patient carrying a heterozygous de novo variation of PRKD1 c.2134G > A, p. (Val712Met) identified by trio exome sequencing. The proband presents with partial atrioventricular septal defect, brachydactyly, ectodermal dysplasia, telangiectasia that developed in childhood, intellectual disability with microcephaly, multicystic renal dysplasia and moderate hormonal resistance. In view of this 8th description and review of the literature, it appears that neurodevelopmental disorders and microcephaly are frequently associated with PRKD1 missense variants, adding to the four main clinical signs described initially in the TEBC syndrome. Further descriptions are required to confirm the observed endocrine and kidney abnormalities. This should contribute to a more comprehensive understanding of the phenotypic spectrum and may help establish genotype-phenotype correlations. In the context of genotype-first strategy, accurate patient descriptions are fundamental. Characterization of specific syndromic associations is essential for variant interpretation support and patient follow-up, even in very rare diseases, such as the TEBC syndrome.
PubMed: 38677542
DOI: 10.1016/j.ejmg.2024.104942 -
Ear, Nose, & Throat Journal Apr 2024Epidermoid cysts are rare benign lesions that can derive from abnormally situated ectodermal tissue during embryological development or from implanted epithelium after...
Epidermoid cysts are rare benign lesions that can derive from abnormally situated ectodermal tissue during embryological development or from implanted epithelium after trauma or surgery. In the oral and maxillofacial regions, epidermoid cysts usually develop in the floor of the mouth and rarely in other sites. We describe a rare case of an epidermoid cyst arising in the right maxillary sinus. A 29-year-old man with a known diagnosis of Marfan syndrome presented with progressive swelling and tenderness in the right buccal region, mimicking facial cellulitis, and refractory to medical treatment. Computed tomography scan showed a cystic lesion extending widely into the right maxillary sinus. The cyst was successfully removed with a medial maxillectomy through inferior antrostomy approach under general anesthesia. Histological examination confirmed the diagnosis of an epidermoid cyst, showing a cystic wall lined with a thin layer of keratinizing squamous epithelium and fibroma connective tissue infiltrated with inflammatory cells, with no skin appendages. There has been no evidence of recurrence during the 4 year follow-up. We also conduct a review of the English literature for the reported cases of maxillary epidermoid cyst.
PubMed: 38676551
DOI: 10.1177/01455613241249054 -
Medicina (Kaunas, Lithuania) Mar 2024: Ectodermal dysplasia (ED)-a genetic disorder-is characterized by severe tooth deficiency. We compared the mandibular volume and the sagittal and horizontal mandibular...
: Ectodermal dysplasia (ED)-a genetic disorder-is characterized by severe tooth deficiency. We compared the mandibular volume and the sagittal and horizontal mandibular widths between patients with ED (ED group) and individuals without tooth deficiency (control group) using three-dimensional modeling. We hypothesized that the mandibular volume differs in ED cases owing to congenital tooth deficiency. : We used previously obtained cone-beam computed tomography (CBCT) images of 13 patients with ED. The control group data comprised retrospective CBCT images of patients of similar age and sex with a skeletal relationship of class 1. Further, using the three-dimensional image analysis software, the tooth crowns were separated from the mandible, the mandible was reconstructed and the gonion-to-gonion distance in the mandible was marked, the distance to the menton point was measured, and the distance between the two condyles was measured and compared with the control group. : Overall, 46.2% and 53.8% of the participants were men and women, respectively. In the ED group, the mean age of the participants was 15.46 (range, 6-24) years, and the mean number of mandibular teeth was 4.62. Notably, the edentulous mandible volume of the ED group (27.020 mm) was statistically significantly smaller than that of the control group (49.213 mm) ( < 0.001). There was no difference between the two groups in terms of the marked points. For data analysis, the Shapiro-Wilk test, independent samples -test, and Mann-Whitney U test were used. : It has been considered that mandible volume does not develop in ED cases because of missing teeth. Modern practices, such as the CBCT technique and three-dimensional software, may be effective in identifying the true morphologic features, especially in patients with genetic syndromes affecting the maxillofacial structure.
Topics: Humans; Female; Male; Mandible; Adolescent; Cone-Beam Computed Tomography; Ectodermal Dysplasia; Child; Retrospective Studies; Imaging, Three-Dimensional; Young Adult; Adult
PubMed: 38674174
DOI: 10.3390/medicina60040528 -
International Journal of Molecular... Apr 2024Human-induced pluripotent stem cells (hiPSCs) offer a promising source for generating dental epithelial (DE) cells. Whereas the existing differentiation protocols were...
Human-induced pluripotent stem cells (hiPSCs) offer a promising source for generating dental epithelial (DE) cells. Whereas the existing differentiation protocols were time-consuming and relied heavily on growth factors, herein, we developed a three-step protocol to convert hiPSCs into DE cells in 8 days. In the first phase, hiPSCs were differentiated into non-neural ectoderm using SU5402 (an FGF signaling inhibitor). The second phase involved differentiating non-neural ectoderm into pan-placodal ectoderm and simultaneously inducing the formation of oral ectoderm (OE) using LDN193189 (a BMP signaling inhibitor) and purmorphamine (a SHH signaling activator). In the final phase, OE cells were differentiated into DE through the application of Purmorphamine, XAV939 (a WNT signaling inhibitor), and BMP4. qRT-PCR and immunostaining were performed to examine the expression of lineage-specific markers. ARS staining was performed to evaluate the formation of the mineralization nodule. The expression of PITX2, SP6, and AMBN, the emergence of mineralization nodules, and the enhanced expression of AMBN and AMELX in spheroid culture implied the generation of DE cells. This study delineates the developmental signaling pathways and uses small molecules to streamline the induction of hiPSCs into DE cells. Our findings present a simplified and quicker method for generating DE cells, contributing valuable insights for dental regeneration and dental disease research.
Topics: Humans; Induced Pluripotent Stem Cells; Cell Differentiation; Epithelial Cells; Tooth; Ectoderm; Cells, Cultured; Bone Morphogenetic Protein 4; Pyrazoles; Signal Transduction; Small Molecule Libraries; Morpholines; Purines; Pyrimidines
PubMed: 38673725
DOI: 10.3390/ijms25084138 -
International Journal of Infectious... Jul 2024We report a long-term remission in candidiasis in a 57-year-old Finnish female with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) suffering...
We report a long-term remission in candidiasis in a 57-year-old Finnish female with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) suffering from recurrent oral, esophageal, gastric, vaginal, and anal candidiasis since childhood. Candidiasis treatment with antifungal medicines fluconazole, itraconazole, posaconazole, voriconazole, caspofungin, nystatin, or amphotericin-B during 2008-2021 had variable effects and intermittent development of antifungal resistance and hospital periods. The patient started using fermented lingonberry juice (FLJ) as a mouth rinse daily in April 2021. No symptoms or mucosal signs of candidiasis in any part of the digestive system or vaginal area have been noticed during this exceptionally long-term 2 ½ year remission in candidiasis without antifungal medications.
Topics: Humans; Female; Middle Aged; Polyendocrinopathies, Autoimmune; Antifungal Agents; Mouthwashes; Candidiasis; Remission Induction; Treatment Outcome; Fruit and Vegetable Juices
PubMed: 38649005
DOI: 10.1016/j.ijid.2024.107066 -
Cureus Mar 2024Peripheral nerve tumors are a group of rare soft tissue tumors of neuro-ectodermal origin. Although the majority of them are benign in nature, up to 10% can be...
INTRODUCTION
Peripheral nerve tumors are a group of rare soft tissue tumors of neuro-ectodermal origin. Although the majority of them are benign in nature, up to 10% can be malignant. The symptoms depend on the site, size, and structures compressed by the tumor.
AIM
To highlight the heterogeneity of signs and symptoms and their presentations, which has often made it difficult for the attending physician to accurately diagnose and direct the patient toward appropriate treatment.
METHODS
Eight patients treated at our tertiary care hospital between 2015 and 2022 were included in this study. They were evaluated in detail. Treatment was surgical. The patients underwent complete excision of the tumor under magnification to help preserve the adjacent neurovascular bundle. All patients were followed up post-operatively to document the status of their symptoms.
RESULTS
The average duration prior to referral to our hospital was 13 months. Seven subjects had pain at presentation, one had neurological deficit. Seven also complained of swelling. Five of the eight lesions were schwannoma, two neurofibroma and one showed malignant histology. Post-operatively, Hoffman Tinel signs improved in all six subjects. five of the seven subjects were completely pain-free, and the other two had a reduction in symptoms.
CONCLUSIONS
Early diagnosis and referral to a specialist center are needed to achieve satisfactory outcomes while treating peripheral nerve tumors. Proliferative lesions should be treated surgically in specialist centers by experienced doctors with appropriate skills and equipment for microsurgical procedures to ensure full recovery.
PubMed: 38646284
DOI: 10.7759/cureus.56601 -
Cureus Mar 2024Both the skin and neuronal systems originate from the ectoderm. In patients hospitalized for neurosurgery, their skin may be affected by genetic and environmental...
BACKGROUND
Both the skin and neuronal systems originate from the ectoderm. In patients hospitalized for neurosurgery, their skin may be affected by genetic and environmental factors.
OBJECTIVE
This study researched disease relationships by evaluating the profile of hospitalized neurosurgery patients who consulted with dermatology in a tertiary clinic (Neurosurgery Clinic, Ankara Training and Research Hospital, Ankara).
METHODS
This study included hospitalized neurosurgery patients who consulted with dermatology. Age, gender, type of hospitalization, neurosurgical diseases, and dermatology diseases were selected as study variables. The medical health records of the patients were retrospectively scanned and analyzed.
RESULTS
A total of 172 consultations were analyzed. The mean age of patients was 44.7 years old ranging from 1 year to 99 years old. The percentage of male patients was 54.7%; 25.5% of the patients were hospitalized for cerebral vascular diseases, 30.2% for spinal diseases, 22.1% for tumors, 12.2% for infections, and 1.2% for other neurosurgical diseases. The most commonly diagnosed dermatological disease in patients was drug eruptions (18.6%), followed by seborrheic dermatitis (16.2%) and contact dermatitis (14.5%).
CONCLUSION
According to this study, the most commonly diagnosed dermatological diseases in neurosurgery inpatients were drug eruption, contact dermatitis, and seborrheic dermatitis. The results of this study may be helpful in terms of neurosurgical training planning and treatment management.
PubMed: 38646246
DOI: 10.7759/cureus.56633 -
Cell Reports May 2024Embryos, originating from fertilized eggs, undergo continuous cell division and differentiation, accompanied by dramatic changes in transcription, translation, and...
Embryos, originating from fertilized eggs, undergo continuous cell division and differentiation, accompanied by dramatic changes in transcription, translation, and metabolism. Chromatin regulators, including transcription factors (TFs), play indispensable roles in regulating these processes. Recently, the trophoblast regulator TFAP2C was identified as crucial in initiating early cell fate decisions. However, Tfap2c transcripts persist in both the inner cell mass and trophectoderm of blastocysts, prompting inquiry into Tfap2c's function in post-lineage establishment. In this study, we delineate the dynamics of TFAP2C during the mouse peri-implantation stage and elucidate its collaboration with the key lineage regulators CDX2 and NANOG. Importantly, we propose that de novo formation of H3K9me3 in the extraembryonic ectoderm during implantation antagonizes TFAP2C binding to crucial developmental genes, thereby maintaining its lineage identity. Together, these results highlight the plasticity of the chromatin environment in designating the genomic binding of highly adaptable lineage-specific TFs and regulating embryonic cell fates.
Topics: Animals; Chromatin; Mice; Cell Lineage; Transcription Factor AP-2; CDX2 Transcription Factor; Gene Expression Regulation, Developmental; Nanog Homeobox Protein; Blastocyst; Transcription Factors; Female; Histones; Cell Differentiation; Ectoderm; Embryonic Development
PubMed: 38643480
DOI: 10.1016/j.celrep.2024.114136