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1.
Article in Chinese | WPRIM | ID: wpr-922005

ABSTRACT

OBJECTIVE@#To report on a family which has two siblings with SCN2A mutation caused by germline mosaicism suffering from autism spectrum disorder/development delay (ASD/DD).@*METHODS@#Clinical data was collected for the proband and his parents. Next generation sequencing (NGS) was carried out on the proband and his parents. Suspected mutations were verified by Sanger sequencing of the proband, his parents and brother. To detect whether there is a low proportion of somatic mosaicism in the parents, a droplet digital PCR was conducted. The result of ddPCR showed that the father was germline mosaicism (0.233%).@*RESULTS@#NGS has identified a de novo splicing mutation of the SCN2A gene, c.605+1G>A, in the proband and his brother. Combined with its clinical phenotype and inheritance pattern, SCN2A was judged to be the pathogenic gene. Above findings strongly suggested parental germline mosaicism.@*CONCLUSION@#ASD/DD in siblings with SCN2A mutations caused by germline mosaicism. Paternal mosaicism should be considered as one of the important inheritance patterns for counseling parents with a child carrying SCN2A mutation. The ddPCR can help to reveal very low proportion of germline mosaicism.


Subject(s)
Autism Spectrum Disorder , Germ Cells , Humans , Male , Mosaicism , Mutation , /genetics , Siblings
2.
Article in Chinese | WPRIM | ID: wpr-879573

ABSTRACT

The development of female germ cells can be mainly divided into two stages: fetal germ cells and oocytes in folliculogenesis after puberty. Mitosis-meiosis transition, meiosis arrest and re-activation are the key phases of the development. Several phases may be characterized by their distinct molecular events, which involve precise regulation of gene expression and interaction with corresponding gonadal niche cells. In recent years, single-cell transcriptome studies have clarified phase-specific patterns of gene expression, signaling pathways and epigenetic modification during oogenesis and folliculogenesis. These works have provided important insights into the development of female germ cells and pathogenesis of germ-cell related diseases, which may promote clinical application of reproductive genetic research.


Subject(s)
Female , Germ Cells , Humans , Meiosis , Oocytes , Oogenesis/genetics , Signal Transduction
3.
Int. j. morphol ; 38(6): 1525-1527, Dec. 2020. graf
Article in English | LILACS | ID: biblio-1134471

ABSTRACT

SUMMARY: The study reported the influence of the high and acute dose of Letrozole on the testis morphology in paca (Cuniculus paca), an aromatase inhibitor that reduces the endogenous estrogen, the essential hormone for spermatogenesis. Morphological changes were observed in seminiferous epithelium with germ cells with apoptotic characteristics and presence of vacuoles and nuclei in pycnose.


RESUMEN: El objetivo de este estudio fue analizar la influencia de una dosis alta de Letrozol en la morfología de los testículos de la paca (Cuniculus paca), un inhibidor de la aromatasa que reduce el estrógeno endógeno, la hormona esencial para la espermatogénesis. Se observaron cambios morfológicos en el epitelio seminífero con células germinales con características apoptóticas y la presencia de vacuolas y núcleos en picnosis.


Subject(s)
Animals , Male , Testis/drug effects , Aromatase Inhibitors/administration & dosage , Cuniculidae , Letrozole/administration & dosage , Seminiferous Epithelium/drug effects , Spermatogenesis/drug effects , Immunohistochemistry , Orchiectomy , Microscopy, Electron, Transmission , Germ Cells/drug effects
4.
Chinese Journal of Biotechnology ; (12): 612-621, 2020.
Article in Chinese | WPRIM | ID: wpr-827007

ABSTRACT

Apomixis has been widely concerned because of its great potential in heterosis fixation. Artificial apomixis is an important direction of current apomixis research. Mitosis instead of Meiosis (MIME) produces diploid gametes that is identical with the maternal genetic composition and is a key step in the artificial creation of apomixes. This paper reviews the occurrence of MIME and its application in crop apomixis and the problems encountered, in an aim to provide reference for expanding the application of MIME in crop apomixis.


Subject(s)
Apomixis , Crops, Agricultural , Genetics , Diploidy , Germ Cells , Meiosis , Mitosis
5.
Biosci. j. (Online) ; 35(5): 1533-1538, sept./oct. 2019. ilus
Article in English | LILACS | ID: biblio-1049047

ABSTRACT

The ovarian neoplasias are unusual in canine species, mainly originated from germinative cells. Among these, dysgerminoma is a rare neoplasm in bitches, predominantly affecting senile and small and medium breeds. They are large, rounded, smooth surface, painless and firm in consistency. The clinical signs commonly demonstrated by patients with this neoplasia are abdominal distension and secondary signs of hyperestrogenism. The diagnosis should be based on the association of history, clinical signs, radiographic, ultrasonographic, cytological, histopathological and immunohistochemical exams. The treatment is the surgical castration and metastases are uncommon. Due to the rarity in bitches, specifically the young animals, this study aimed to describe a case of left ovarian dysgerminoma, of considerable size and adherence in adjacent organs, in a Brazilian Fila, whose showed considerable increase in abdominal volume and progressive weight loss. The diagnosis was confirmed by means of complementary x-ray, ultrasound, histopathological and immunohistochemical tests. Even with the recommended surgical treatment (castration), the patient demonstrated severe respiratory symptoms and increased abdominal volume after two months, and the complementary exams suggested pulmonary and multifocal metastases and the tutor chose euthanasia. As presented by the results, although rare in bitches, dysgerminoma should be included in the differential of ovarian neoplasias, including the young ones.


As neoplasias ovarianas são de ocorrência incomum na espécie canina, principalmente as originadas de células germinativas. Dentre estas, o disgerminoma é uma neoplasia rara em cadelas, acometendo predominantemente fêmeas senis e de raças pequenas e médias. Apresentam-se como massas grandes, arredondadas, de superfície lisa, indolores e de consistência firme. Os sinais clínicos comumente demonstrados por pacientes com este tipo neoplásico incluem distensão abdominal e sinais secundários de hiperestrogenismo. O diagnóstico deve ser baseado na associação do histórico, sinais clínicos, exames radiográficos, ultrassonográficos, citológicos, histopatológicos e imunohistoquímicos. O tratamento de escolha é a castração cirúrgica, sendo que as metástases são incomuns. Perante a raridade em cadelas, em específico as jovens, este relato teve como propósito discorrer um caso de disgerminoma ovariano esquerdo, de tamanho considerável e aderência em órgãos adjacentes, em uma Fila Brasileira, cuja sintomatologia incluiu considerável aumento de volume abdominal e emagrecimento progressivo. O diagnóstico foi confirmado por meio de exames complementares de raios-x, ultrassom, histopatológico e imunohistoquímicos. Mesmo com a instituição dotratamento cirúrgico preconizado (castração), a paciente demonstrou grave sintomatologia respiratória e aumento de volume abdominal após dois meses e, como os exames complementares foram sugestivos de metástases pulmonares e multifocais, o tutor optou pela eutanásia. Diante dos resultados, pode-se admitir que apesar de raro em cadelas, o disgerminoma deve ser incluído no diferencial das neoplasias ovarianas, incluindo as jovens.


Subject(s)
Ovary , Dogs , Dysgerminoma , Germ Cells , Neoplasms
6.
CorSalud ; 11(1): 66-69, ene.-mar. 2019. graf
Article in Spanish | LILACS | ID: biblio-1089711

ABSTRACT

RESUMEN Los tumores de células germinales no son tan frecuentes, dentro de ellos se encuentra el teratoma como el más usual en ubicación mediastinal, es más habitual en hombres jóvenes cuando es maligno (teratocarcinoma), con una relación por género de 13,5:1, y una edad promedio de 26 años. Se describe la evolución de un hombre de 19 años de edad con un tumor mediastinal, con metástasis pulmonares e infiltración intracardíaca, resecado satisfactoriamente, cuyos síntomas más frecuentes fueron: disnea, dolor retroesternal, fiebre, tos, pérdida de peso y síndrome de vena cava superior. El diagnóstico se realizó por radiografía de tórax y tomografía axial computarizada. Se logró realizar la excéresis total del tumor y las metástasis, así como la tumoración intracardíaca, con reparación de la válvula tricúspide. El paciente ha tenido una evolución satisfactoria durante el primer año de seguimiento.


ABSTRACT Germ cell tumors are not so frequent; among them, teratomas are most common in the mediastinal location. Teratomas in young men are usually malignant (teratocarcinoma), with a gender ratio of 13.5:1, and an average age of 26 years. We describe the evolution of a 19-year-old man with a mediastinal tumor, with pulmonary metastases and intracardiac infiltration, successfully removed; whose most frequent symptoms were: dyspnea, retrosternal pain, fever, cough, weight loss and superior vena cava syndrome. The diagnosis was made by chest x-ray and computed tomography. Total removal of the tumor and metastases was achieved, as well as the intracardiac tumor, with tricuspid valve repair. The patient had a satisfactory outcome during the first follow-up year.


Subject(s)
Mediastinal Neoplasms , Neoplasms, Gonadal Tissue , Neoplasms, Germ Cell and Embryonal , Germ Cells
7.
Article in English | WPRIM | ID: wpr-763348

ABSTRACT

OBJECTIVE: As paternal age increases, the quality of sperm decreases due to increased DNA fragmentation and aneuploidy. Higher levels of structural chromosomal aberrations in the gametes ultimately decrease both the morphologic quality of embryos and the pregnancy rate. In this study, we investigated whether paternal age affected the euploidy rate. METHODS: This study was performed using the medical records of patients who underwent in vitro fertilization (IVF) procedures with preimplantation genetic screening (PGS) from January 2016 to August 2017 at a single center. Based on their morphological grade, embryos were categorized as good- or poor-quality blastocysts. The effects of paternal age were elucidated by adjusting for maternal age. RESULTS: Among the 571 total blastocysts, 219 euploid blastocysts were analyzed by PGS (38.4%). When the study population was divided into four groups according to both maternal and paternal age, significant differences were only noted between groups that differed by maternal age (group 1 vs. 3, p=0.031; group 2 vs. 4, p=0.027). Further analysis revealed no significant differences in the euploidy rate among the groups according to the morphological grade of the embryos. CONCLUSION: Paternal age did not have a significant impact on euploidy rates when PGS was performed. An additional study with a larger sample size is needed to clarify the effects of advanced paternal age on IVF outcomes.


Subject(s)
Aneuploidy , Blastocyst , Chromosome Aberrations , DNA Fragmentation , Embryonic Development , Embryonic Structures , Female , Fertilization in Vitro , Genetic Testing , Germ Cells , Humans , In Vitro Techniques , Maternal Age , Medical Records , Paternal Age , Pregnancy , Pregnancy Rate , Sample Size , Spermatozoa
8.
Article in English | WPRIM | ID: wpr-760354

ABSTRACT

We investigated whether β-carotene (β-CA) or ellagic acid (EA), originating from various fruits and vegetables, has a preventive effect against male infertility induced by exogenous scrotal hyperthermia. ICR adult mice were intraperitoneally treated with 10 mg/kg of β-CA or EA daily for 13 days consecutively. During this time, mice were subjected to transient scrotal heat stress in a water bath at 43℃ for 20 min on day 7, and their testes and blood were obtained on day 14 for histopathologic and biochemical analyses. Heat stress induced significant testicular weight reduction, germ cell loss and degeneration, as well as abnormal localization of phospholipid hydroperoxide glutathione peroxidase (PHGPx) and manganese superoxide dismutase (MnSOD) in spermatogenic and Leydig cells. Heat stress also altered the levels of oxidative stress (lipid peroxidation, SOD activity, and PHGPx, MnSOD, and HIF-1α mRNAs), apoptosis (Bax, Bcl-xL, caspase 3, NF-κB, and TGF-β1 mRNAs), and androgen biosynthesis (serological testosterone concentration and 3β-hydroxysteroid dehydrogenase mRNA) in testes. These changes were all improved significantly by β-CA treatment, but only slightly improved by EA treatment. These findings indicate that β-CA, through modulations of oxidative stress, apoptosis, and androgen biosynthesis, is a potent preventive agent against testicular injuries induced by scrotal hyperthermia.


Subject(s)
Adult , Animals , Apoptosis , Baths , beta Carotene , Caspase 3 , Ellagic Acid , Fever , Fruit , Germ Cells , Glutathione Peroxidase , Hot Temperature , Humans , Hydrogen Peroxide , Infertility, Male , Leydig Cells , Male , Mice , Oxidative Stress , Oxidoreductases , Superoxide Dismutase , Testis , Testosterone , Vegetables , Water , Weight Loss
9.
Article in English | WPRIM | ID: wpr-742361

ABSTRACT

The survival rates of boys and men with cancer have increased due to advances in cancer treatments; however, maintenance of quality of life, including fertility preservation, remains a major issue. Fertile male patients who receive radiation and/or chemotherapy face temporary, long-term, or permanent gonadal damage, particularly with exposure to alkylating agents and whole-body irradiation, which sometimes induce critical germ cell damage. These cytotoxic treatments have a significant impact on a patient's ability to have their own biological offspring, which is of particular concern to cancer patients of reproductive age. Therefore, various strategies are needed in order to preserve male fertility. Sperm cryopreservation is an effective method for preserving spermatozoa. Advances have also been achieved in pre-pubertal germ cell storage and research to generate differentiated male germ cells from various types of stem cells, including embryonic stem cells, induced pluripotent stem cells, and spermatogonial stem cells. These approaches offer hope to many patients in whom germ cell loss is associated with sterility, but are still experimental and preliminary. This review examines the current understanding of the effects of chemotherapy and radiation on male fertility.


Subject(s)
Alkylating Agents , Cryopreservation , Drug Therapy , Embryonic Stem Cells , Fertility , Fertility Preservation , Germ Cells , Gonads , Hope , Humans , Induced Pluripotent Stem Cells , Infertility , Infertility, Male , Male , Methods , Quality of Life , Radiotherapy , Spermatogenesis , Spermatozoa , Stem Cells , Survival Rate , Whole-Body Irradiation
10.
Article in English | WPRIM | ID: wpr-742360

ABSTRACT

Male infertility (MI) is a complex multifactorial disease, and idiopathic infertility accounts for 30% of cases of MI. At present, the evidence for the effectiveness of empirical drugs is limited, and in vitro fertilization is costly and may increase the risk of birth defects and childhood cancers. Therefore, affected individuals may feel obliged to pursue natural remedies. Traditional Chinese medicine (TCM) may represent a useful option for infertile men. It has been demonstrated that TCM can regulate the hypothalamic-pituitary-testicular axis and boost the function of Sertoli cells and Leydig cells. TCM can also alleviate inflammation, prevent oxidative stress, reduce the DNA fragmentation index, and modulate the proliferation and apoptosis of germ cells. Furthermore, TCM can supply trace elements and vitamins, ameliorate the microcirculation of the testis, decrease the levels of serum anti-sperm antibody, and modify epigenetic markers. However, the evidence in favor of TCM is not compelling, which has hindered the development of TCM. This review attempts to elucidate the underlying therapeutic mechanisms of TCM. We also explore the advantages of TCM, differences between TCM and Western medicine, and problems in existing studies. Subsequently, we propose solutions to these problems and present perspectives for the future development of TCM.


Subject(s)
Apoptosis , Congenital Abnormalities , DNA Fragmentation , Epigenomics , Fertilization in Vitro , Germ Cells , Humans , Infertility , Infertility, Male , Inflammation , Leydig Cells , Male , Male , Medicine, Chinese Traditional , Microcirculation , Oxidative Stress , Sertoli Cells , Testis , Trace Elements , Vitamins
11.
Article in English | WPRIM | ID: wpr-742359

ABSTRACT

PURPOSE: This study investigated the role of natriuretic peptide receptor 2 (NPR2) on cell proliferation and testosterone secretion in mouse Leydig cells. MATERIALS AND METHODS: Mouse testis of different postnatal stages was isolated to detect the expression C-type natriuretic peptide (CNP) and its receptor NPR2 by quantitative reverse transcription polymerase chain reaction (RT-qPCR). Leydig cells isolated from mouse testis were cultured and treated with shNPR2 lentiviruses or CNP. And then the cyclic guanosine monophosphate production, testosterone secretion, cell proliferation, cell cycle and cell apoptosis in mouse Leydig cells were analyzed by ELISA, RT-qPCR, Cell Counting Kit-8, and flow cytometry. Moreover, the expression of NPR2, cell cycle, apoptosis proliferation and cell cycle related gene were detected by RT-qPCR and Western blot. RESULTS: Knockdown of NPR2 by RNAi resulted in S phase cell cycle arrest, cell apoptosis, and decreased testosterone secretion in mouse Leydig cells. CONCLUSIONS: Our study provides more evidences to better understand the function of CNP/NPR2 pathway in male reproduction, which may help us to treat male infertility.


Subject(s)
Animals , Apoptosis , Blotting, Western , Cell Count , Cell Cycle , Cell Cycle Checkpoints , Cell Proliferation , Enzyme-Linked Immunosorbent Assay , Flow Cytometry , Germ Cells , Guanosine Monophosphate , Humans , Infertility, Male , Lentivirus , Leydig Cells , Male , Mice , Natriuretic Peptide, C-Type , Polymerase Chain Reaction , Receptors, Peptide , Reproduction , Reverse Transcription , RNA Interference , S Phase , Testicular Diseases , Testis , Testosterone
12.
Int. j. morphol ; 36(1): 140-144, Mar. 2018. tab, graf
Article in English | LILACS | ID: biblio-893201

ABSTRACT

SUMMARY: Toxic effects of anti-cancer and other drugs on the normal tissues could be reduced by the herbal plants and their fractions. This study investigated the protective effect of Tribulus terrestris (TT) on Cisplatin- induced cytotoxicity germ cell apoptosis in male mice. In this experimental study, thirty male Balb/c mice were divided randomly into 5 groups (n=6). A single dose of Cisplatin (5.5 mg/kg) and differ-ent concentrations of Tribulus terrestris were administrated for 14 consecutive days. Reverse transcription polymerase chain reaction (RT-PCR) of apoptosis-re-lated genes was performed with RNA extracted from testes of the mice. Statistical analysis was done using one-way ANOVA. In the Cisplatin group, there was a significant increase in mRNA expression of p53 (P=0.008), bax (P=0.004) and the ratio of bax/Bcl-2 (P=0.000), whereas there was an decrease in the expression of Bcl-2 (P=0.003), as compared to control group. In Cis+TT groups, the data showed that different concentrations of TT could improve the harmful effects caused by the Cisplatin. The best protective effects were achieved in Cis+TT (300 mg/kg). Tribulus terrestris protects testicular germ cell against Cisplatin induced apoptosis by affecting related genes regulation.


RESUMEN: Los efectos tóxicos en los tejidos normales, de los medicamentos contra el cáncer al igual que otras medicamentos podrían mejorar con el uso de plantas medicinales y hierbas. Este estudio investigó el efecto protector de Tribulus terrestris (TT) sobre la apoptosis de células germinales por citotoxicidad inducida por cisplatino en ratones machos. En este estudio se dividieron treinta ratones Balb/c macho aleatoriamente en 5 grupos (n = 6). Se administró una sola dosis de cisplatino (5,5 mg / kg) y diferentes concentraciones de Tribulus terrestris durante 14 días consecutivos. La reacción en cadena de la polimerasa de transcripción reversa de los genes relacionados con la apoptosis, se realizó con ARN extraído de los testículos de los ratones. El análisis estadístico se realizó usando ANOVA de una vía. En el grupo cisplatino, hubo un aumento significativo en la expresión de mRNA de p53 (P = 0,008), bax (P = 0,004) y la relación de bax / Bcl-2 (P = 0.000), mientras que hubo una disminución en la expresión de Bcl-2 (P = 0,003), en comparación con el grupo control. En los grupos Cis + TT, los datos mostraron que las diferentes concentraciones de TT podrían mejorar los efectos nocivos causados por el cisplatino. Los mejores efectos protectores se lograron en Cis + TT (300 mg / kg). Tribulus terrestris protege las células germinales testiculares contra la apoptosis inducida por cisplatino al afectar la regulación de los genes relacionados.


Subject(s)
Animals , Male , Mice , Apoptosis/drug effects , Cisplatin/toxicity , Germ Cells/drug effects , Plant Extracts/administration & dosage , Tribulus , Antineoplastic Agents/toxicity , Apoptosis/genetics , Mice, Inbred BALB C , Reverse Transcriptase Polymerase Chain Reaction
13.
Arq. bras. med. vet. zootec. (Online) ; 70(1): 160-168, Jan.-Feb. 2018. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-888076

ABSTRACT

The adipose tissue is a reliable source of Mesenchymal stem cells (MSCs) showing a higher plasticity and transdifferentiation potential into multilineage cells. In the present study, adipose tissue-derived mesenchymal stem cells (AT-MSCs) were isolated from mice omentum and epididymis fat depots. The AT-MSCs were initially compared based on stem cell surface markers and on the mesodermal trilineage differentiation potential. Additionally, AT-MSCs, from both sources, were cultured with differentiation media containing retinoic acid (RA) and/or testicular cell-conditioned medium (TCC). The AT-MSCs expressed mesenchymal surface markers and differentiated into adipogenic, chondrogenic and osteogenic lineages. Only omentum-derived AT-MSCs expressed one important gene marker related to male germ cell lineages, after the differentiation treatment with RA. These findings reaffirm the importance of adipose tissue as a source of multipotent stromal-stem cells, as well as, MSCs source regarding differentiation purpose.(AU)


O tecido adiposo é uma fonte apropriada de células-tronco mesenquimais (MSCs), as quais demonstram ampla plasticidade com capacidade de transdiferenciar em diversas linhagens. No presente estudo, as células-tronco mesenquimais derivadas do tecido adiposo (AT-MSC) foram isoladas de tecido adiposo localizado nas regiões próximas ao omento e testículos de camundongos. Primeiramente, as AT-MSCs foram comparadas com base na expressão de marcadores antigênicos de superfície e no potencial de diferenciação nas três linhagens mesodérmicas. Além disso, AT-MSC, de ambas as fontes, foram cultivadas com meio de diferenciação contendo ácido retinóico (RA) e / ou meio condicionado testicular (TCC). As AT-MSCs expressaram marcadores de superfície mesenquimais e diferenciaram nas linhagens adipogênica, condrogênica e osteogênica. Após o tratamento com RA, somente as AT-MSCs isoladas do tecido adiposo depositado na região do omento expressaram um único importante marcador relacionado às células da linhagem germinativa masculina. Estes resultados reafirmam a importância do tecido adiposo como fonte de células-tronco estromais-multipotentes, bem como, uma fonte de MSCs para estudos de diferenciação.(AU)


Subject(s)
Animals , Stem Cells/classification , Adipose Tissue , Glial Cell Line-Derived Neurotrophic Factor/analysis , Germ Cells
14.
Article in English | WPRIM | ID: wpr-765258

ABSTRACT

Intracranial germ cell tumors (iGCTs) are a heterogeneous group of tumors with peculiar characteristics clearly distinguished from other brain tumors of neuroepithelial origin. Diverse histology, similarity to gonadal GCT, predilection to one sex, and geographic difference in incidence all present enigmas and fascinating challenges. The treatment of iGCT has advanced for germinoma to date; thus, clinical attention has shifted from survival to long-term quality of life. However, for non-germinomatous GCT, current protocols provide only modest improvement and more innovative therapies are needed. Recently, next-generation sequencing studies have revealed the genomic landscape of iGCT. Novel mutations in the KIT-RAS-MAPK and AKT-MTOR pathways were identified. More importantly, methylation profiling revealed a new method to assess the pathogenesis of iGCT. Molecular research will unleash new knowledge on the origin of iGCT and solve the many mysteries that have lingered on this peculiar neoplasm for a long time.


Subject(s)
Brain Neoplasms , Germ Cells , Germinoma , Gonads , Incidence , Methods , Methylation , Neoplasms, Germ Cell and Embryonal , Quality of Life , Therapies, Investigational
15.
Article in Korean | WPRIM | ID: wpr-766522

ABSTRACT

Artificial insemination by donor is an important means of improving the likelihood of pregnancy in couples affected by male factor infertility, but it poses medical, legal, and ethical issues due to the involvement of third parties, such as the sperm donor. In Korea, the Bioethics and Safety Act was enacted for the purpose of preventing and eliminating unethical research on germ cells, and such research was limited to matters related to the use of assisted reproductive technologies, centering on embryos, oocytes, and protecting the health of oocyte donors. However, this law is incomplete in terms of specific standards or regulations relating to the donation and receipt of sperm. In Korea, artificial insemination by donor has been carried out without a standard operating protocol for donation and receipt of sperm, which would include testing sperm donors for diseases, limiting the number of donor offspring, compensation for donations, and the role of anonymity and non-anonymity. The diversity of policies worldwide shows that each country has its unique set of guidelines tailored for its own specific needs and practical considerations. Herein, I present a standard operating protocol of medical, legal, and ethical principles for artificial insemination by donor that is suitable for domestic circumstances, along with a comparison of recommendations and guidelines of other countries concerning sperm donation issues.


Subject(s)
Anonyms and Pseudonyms , Bioethics , Compensation and Redress , Embryonic Structures , Ethics , Family Characteristics , Germ Cells , Humans , Infertility , Infertility, Male , Insemination, Artificial , Jurisprudence , Korea , Male , Oocytes , Pregnancy , Reproductive Techniques, Assisted , Social Control, Formal , Spermatozoa , Tissue Donors
16.
Article in English | WPRIM | ID: wpr-713307

ABSTRACT

OBJECTIVE: To determine the localization, expression, and function of Toll-like receptors (TLRs) in fallopian tube epithelial cells. METHODS: The localization of TLRs in fallopian tube epithelial cells was investigated by immunostaining. Surprisingly, the intensity of staining was not equal in the secretory and ciliated cells. After primary cell culture of fallopian tube epithelial cells, ring cloning was used to isolate colonies of ciliated epithelial cells, distinct from non-ciliated epithelial cells. The expression of TLRs 1–10 was examined by quantitative real-time polymerase chain reaction, and protein localization was confirmed by immunostaining. The function of the TLRs was determined by interleukin (IL)-6 and IL-8 production in response to TLR2, TLR3, TLR5, TLR7, and TLR9 ligands. RESULTS: Fallopian tube epithelial cells expressed TLRs 1–10 in a cell-type-specific manner. Exposing fallopian tube epithelial cells to TLR2, TLR3, TLR5, TLR7, and TLR9 agonists induced the secretion of proinflammatory cytokines such as IL-6 and IL-8. CONCLUSION: Our findings suggest that TLR expression in the fallopian tubes is cell-type-specific. According to our results, ciliated cells may play more effective role than non-ciliated cells in the innate immune defense of the fallopian tubes, and in interactions with gametes and embryos.


Subject(s)
Clone Cells , Cloning, Organism , Cytokines , Embryonic Structures , Epithelial Cells , Fallopian Tubes , Female , Germ Cells , Humans , Interleukin-6 , Interleukin-8 , Interleukins , Ligands , Primary Cell Culture , Real-Time Polymerase Chain Reaction , Toll-Like Receptors
17.
Article in English | WPRIM | ID: wpr-718054

ABSTRACT

Teratomas can occur in almost any region of the body and are the most common extragonadal germ cell childhood tumors. However, craniofacial teratomas are rare. Craniofacial teratomas can present unique features and cause significant functional and aesthetic concerns. There are complex lesions that can have components intra-cranially and extra-cranially. Therefore, their management requires significant multi-stage multidisciplinary surgical procedures. Herein, we present a case of craniofacial teratoma in a child with the phenotype of proboscis lateralis that highlights some of the pertinent point of the diagnosis and management of congenital neonatal teratomas.


Subject(s)
Child , Diagnosis , Germ Cells , Humans , Infant , Phenotype , Skull , Teratoma
18.
Article in Chinese | WPRIM | ID: wpr-775829

ABSTRACT

OBJECTIVE@#To study the effect of Wdr1 deletion in germ cells on ovarian function of mice.@*METHODS@#Oocyte-specific gene knockout mouse model was constructed by crossing Wdr1female mice with Cre recombinase transgenic male mice which was driven by a germ cell-specific promoter. Wdr1; Ddx4-Cre mice and control mice were sacrificed at 14 days, 28 days and 4 months after birth, whose ovaries were subjected to photography, paraffin sectioning and Hematoxylin-Eosin (HE) staining. The ovarian volume and follicular numbers were recorded at various time points.@*RESULTS@#The ovarian volume of Wdr1 ; Ddx4-Cre mice was slightly lower than that of the controls at 14 days. HE staining showed that primordial follicles, primary follicles and secondary follicles were slightly reduced compared with the control mice at 14 days. The ovarian volume of Wdr1 ; Ddx4-Cre mice was significantly lower than that of the control mice at 28 days and 4 months. HE staining showed that all developmental follicles were significantly reduced compared with the control mice.@*CONCLUSION@#Wdr1 gene deletion in germ cells can influence early ovarian function of mice and lead to premature ovarian failure.


Subject(s)
Animals , Female , Germ Cells , Male , Mice , Mice, Knockout , Mice, Transgenic , Microfilament Proteins , Genetics , Oocytes , Ovarian Follicle
19.
Article in Chinese | WPRIM | ID: wpr-775399

ABSTRACT

To study the protective effects of Wuzi Yanzong recipe on testis germ cell apoptosis in natural ageing rats through endoplasmic reticulum stress (ERS), 16-month-old male SPF grade SD rats were randomly divided into three groups: ageing model group, and low and high-dose Wuzi Yanzong recipe groups (WZ, 1 and 4 g·kg⁻¹), with 10 rats in each group. In addition, 2-month-old SD male rats were used as adult control group. The ageing model group and the adult control group were fed with normal diet for 4 months. WZ groups were given the medicated feed for 4 months. After fasting for 12 hours, the rats were put to death. Then, the testes were immediately collected. The change of testicular tissue morphology was observed by HE staining. The expression levels of ER stress-related proteins GRP78, p-PERK, p-eif2, ATF4, p-IRE1, XBP1, ATF6 and apoptosis-related proteins CHOP, caspase12 and p-JNK in testes were detected by Western blot. Compared with the ageing model group, Wuzi Yanzong recipe alleviated the morphological changes of testicular tissue. Western blot results showed that Wuzi Yanzong recipe significantly increased the expression levels of endoplasmic reticulum stress-related proteins GRP78, p-PERK, p-eif2, ATF4, p-IRE1, XBP1, ATF6 and significantly decreased the expression levels of endoplasmic reticulum-induced apoptosis-related proteins CHOP, caspase 12 and p-JNK. In conclusion, Wuzi Yanzong recipe can alleviate the ageing-related apoptosis of testicular germ cells in natural ageing rats by regulating endoplasmic reticulum stress.


Subject(s)
Aging , Animals , Apoptosis , Drugs, Chinese Herbal , Pharmacology , Endoplasmic Reticulum Stress , Germ Cells , Male , Rats , Rats, Sprague-Dawley , Testis
20.
Article in English | WPRIM | ID: wpr-788688

ABSTRACT

Intracranial germ cell tumors (iGCTs) are a heterogeneous group of tumors with peculiar characteristics clearly distinguished from other brain tumors of neuroepithelial origin. Diverse histology, similarity to gonadal GCT, predilection to one sex, and geographic difference in incidence all present enigmas and fascinating challenges. The treatment of iGCT has advanced for germinoma to date; thus, clinical attention has shifted from survival to long-term quality of life. However, for non-germinomatous GCT, current protocols provide only modest improvement and more innovative therapies are needed. Recently, next-generation sequencing studies have revealed the genomic landscape of iGCT. Novel mutations in the KIT-RAS-MAPK and AKT-MTOR pathways were identified. More importantly, methylation profiling revealed a new method to assess the pathogenesis of iGCT. Molecular research will unleash new knowledge on the origin of iGCT and solve the many mysteries that have lingered on this peculiar neoplasm for a long time.


Subject(s)
Brain Neoplasms , Germ Cells , Germinoma , Gonads , Incidence , Methods , Methylation , Neoplasms, Germ Cell and Embryonal , Quality of Life , Therapies, Investigational
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