Evaluating the Association Between Genetic Polymorphisms Related to Homocysteine Metabolism and Unexplained Recurrent Pregnancy Loss in Women.

Objective: To investigate the relationship between unexplained recurrent pregnancy loss (URPL) and polymorphisms of homocysteine metabolism-related genes in women. Materials and Methods: A case-control study included 90 women with two or more consecutive unexplained pregnancy losses and 92 controlled women without miscarriage history; the female participants were in the age category of 18-35 years. The high-resolution melting technique was used to detect the single-nucleotide variants related to homocysteine metabolism disorder, namely MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G polymorphism. Results: The MTHFR C677T polymorphism had significantly correlation with URPL. Indeed, the frequency of the677T allele and genotypes (677CT, 677TT) in the URPL group was significantly higher than that in the control group (p < 0.05). However, the allele, as well as genotype distribution of MTHFR A1298C, MTR A2756G, and MTRR A66G polymorphisms showed no significant difference (p > 0.05). MTHFR 677CT-1298AC genotype combination led to a 9.0-fold increased risk of URPL (OR 9.0; 95% CI, 2.25-35.99; p = 0.001), while the risk increased 10.0-fold (OR 10.0; 95% CI, 1.8-55.53; p = 0.008) when participants had more than the 3 variant loci. Conclusion: The MTHFR C677T polymorphism was a risk factor for URPL, and determining the MTHFR C677T polymorphism had a potential prediction of URPL risk. Moreover, the MTHFR C677T and MTHFR A1298C joint mutants might have a synergistic effect on URPL. Conversely, there is a lack of evidence suggesting the URPL risk of MTHFR A1298C, MTR A2756G, and MTRR A66G polymorphisms.

Effect of autologous platelet-rich plasma treatment on patients with thin endometrium / Efecto del tratamiento con plasma autólogo rico en plaquetas en pacientes con endometrio delgado

ABSTRACT Introduction: The success of frozen embryo transfer cycles depends on a delicate interaction between embryo quality and endometrium. Low pregnancy rates are associated with a thin endometrium. Objective: To evaluate the effect of autologous platelet-rich plasma treatment on patients with thin endometrium. Methods: In 34 patients with thin endometrium (< 7 mm), canceled in the previous frozen embryo transfer cycles, autologous platelet-rich plasma was prepared, from autologous peripheral vein blood; intrauterine infusion was given during hormone replacement therapy in frozen embryo transfer cycles. Frozen embryo transfer was performed when the endometrium thickness reached ≥ 7mm. Results: Six patients canceled the embryo transfer cycle due to endometrium thickness did not reach 7 mm; 28 patients got endometrial thickness ≥ 7 mm and performed frozen embryo transfer. The endometrial thickness was 7.5 ± 0.8 mm, which was significantly thicker than in the previous cycles (5.6 ± 0.79 mm) with p< 0.002, the implantation rate was 23.07 %, and the clinical pregnancy rate was 12/28 (42.8 %). Conclusion: Autologous platelet-rich plasma improves the endometrial thickness and the pregnancy rate outcomes in women with thin endometrium.

RESUMEN Introducción: El éxito de los ciclos de transferencia de embriones congelados depende de una delicada interacción entre la calidad del embrión y el endometrio. Las bajas tasas de embarazo están asociadas con un endometrio delgado. Objetivo: Evaluar el efecto del tratamiento con plasma rico en plaquetas autólogo en pacientes con endometrial delgado. Métodos: En 34 pacientes con endometrio delgado (< 7 mm) canceladas en los ciclos previos de transferencia de embriones congelados, se preparó plasma autólogo rico en plaquetas, a partir de sangre autóloga de venas periféricas; la infusión intrauterina se administró durante la terapia de reemplazo hormonal en los ciclos de transferencia de embriones congelados. La transferencia de embriones congelados se realizó cuando el grosor del endometrio alcanzó ≥ 7 mm. Resultados: En 6s pacientes se canceló el ciclo de transferencia embrionaria debido a que el grosor del endometrio no alcanzó los 7 mm; 28 pacientes obtuvieron un grosor endometrial ≥ 7 mm y realizaron transferencia de embriones congelados. El grosor del endometrio fue de 7,5 ± 0,8 mm, significativamente mayor que en los ciclos anteriores (5,6 ± 0,79 mm) con p< 0,002; la tasa de implantación fue de 23,07 % y la tasa de embarazo clínico fue de 12/28 (42,8 %). Conclusión: El plasma autólogo rico en plaquetas mejora el grosor endometrial y los resultados de la tasa de embarazo en mujeres con endometrio delgado.

Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam.

BACKGROUND: Epidermolysis bullosa (EB) is a disorder characterized by the appearance of blisters, erosions and wounds in response to minimal trauma. The disease manifests with noticeable symptoms ranging from mild to severe, classified into four major types: epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), dystrophic epidermolysis bullosa (DEB) and Kindler syndrome. Preimplantation genetic diagnosis for the disease remains the only available option for families at risk for the recurrence of the disorder without having to terminate an ongoing pregnancy. MATERIALS AND METHODS: A novel COL7A1 mutation was used to design primers for the polymerase chain reaction (PCR) to amplify the segment spanning the mutation in the family and their in-vitro fertilization (IVF) embryos. Then, the PCR products were sequenced with Sanger sequencing to detect the alteration in the allele, and some embryos would go through NGS-based preimplantation screening for chromosomal abnormalities. RESULTS: The established protocol for EB detected mutant allele in 6/9 embryos (66.6%), while the remaining 3 embryos (33.4%) appeared to not carry any mutation. Only one among 3 embryos was recommended to be transferred into the mother's uterus. CONCLUSION: The established preimplantation genetic diagnosis procedure is helpful to families affected by epidermolysis bullosa caused by COL7A1 mutations but wish to have healthy children.

Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene.

BACKGROUND: Adrenoleukodystrophy (ALD) is a rare sex-linked recessive disorder that disrupts adrenal gland function and the white matter of the nervous system. According to recent epidemiological statistics, up to this moment, the disease is the most recorded peroxisomal disorder. ABCD1 is a gene related to ALD, with more than 850 unique mutations have been reported. Early diagnosis of the disease would help to consult families with ALD to plan for interventions to prevent passing along the pathogenic mutations to their children. MATERIAL AND METHODS: A heterozygous ABCD1 gene mutation related to ALD found in a Vietnamese woman was used to design primers for the polymerase chain reaction (PCR) to amplify the segment spanning the mutation. Then, combining sequencing methods for the PCR products, especially Sanger sequencing and next-generation sequencing (NGS), a protocol was developed to detect mutations on the ABCD1 gene to apply for the DNA samples of in-vitro fertilization (IVF) embryos biopsied at the blastocyst stage to screen for pathogenic alleles. RESULTS: The established protocol for PGD of ALD detected mutant alleles in 5/8 embryos (62.5%), while the remaining 3 embryos (37.5%) did not carry any mutation. One of the 3 embryos was transferred, and a healthy female baby was born after a full-term pregnancy. CONCLUSION: The developed protocol was helpful for the preimplantation genetic diagnosis process to help families with the monogenic disease of ALD but wish to have healthy children.

Evaluating the Combination of Human Chorionic Gonadotropin and Clomiphene Citrate in Treatment of Male Hypogonadotropic Hypogonadism: A Prospective Study.

BACKGROUND: In this study, we evaluated MHH patients who wished to preserve fertility, assessing the efficacy of a short course (12 months) of a combined hCG +clomiphene citrate. MATERIALS AND METHODS: The cross-sectional study included 19 patients with hypogonadotropic hypogonadism who were admitted to the Andrology and Fertility Hospital of Hanoi between March 2016 and March 2018. Using hCG every three days in combination with clomiphene citrate 25mg per day until normal testosterone levels are reached, maintain the dose until spermatozoa are present. RESULTS: The mean age was 30.2 ± 5.6. Differences in penis length between the time before and after treatment were significant (p=0.005). The average dose of hCG using in our study was 5579 ± 1773.7 IU. After treatment 6 months and 12 months, the changes in clinical features in all patients and the total hypogonadotropic hypogonadism group were statistically significant (p<0.001). In particular, the differences in testosterone hormone levels in the partial hypogonadotropic hypogonadism group were also statistically significant (p=0.03). No adverse event was observed in our study. The number of patients appearing sperm in the semen is 9 patients (47.4%) after 12 months, but most of the sperm were completely deformed (<1%), and the average motility in the progressive motility group was below 8%. CONCLUSION: In conclusion, a combination of hCG and clomiphene citrate may be an option for MHH patients who desired fertility. After 12 months, 47.4% of patients have sperm in semen but almost all of them were deformity. Hormone profile and secondary sexual characteristics improved significantly. There was no adverse event in our study that considered it as safe therapy.

Pulmonary sclerosing pneumocytoma in an 18-year-old male patient: A case report and literature review.

RATIONALE: Pulmonary sclerosing pneumocytoma (PSP) is a rare benign tumor of the lung, mostly presented in Asian middle-aged women. Initially, it was considered as a vascular origin tumor, but then research evidence showed that it was derived from natural epithelial tissue. On imaging, this tumor may be found as a solitary well-circumscribed lung parenchymal lesion, and is often located in juxtapleural or juxtafissural positions. On histopathology, it consists of cuboidal surface cells and stromal round cells, both of which are positive for thyroid transcription factor-1. Here we report a case of a young PSP male patient and review the relevant literature in order to improve our understanding of this disease. PATIENT CONCERNS: An 18-year-old man was referred to our hospital after accidentally finding a lesion on chest X-ray. Contrast-enhanced computed tomography showed a soft tissue mass with homogeneous enhancement in the left lower lobe posterior segment. DIAGNOSES: The diagnosis of PSPs was confirmed by histopathological examination. INTERVENTIONS AND OUTCOMES: The patient underwent a thoracoscopic wedge resection and was followed-up after that. One month later, he had good performance status with no recurrent tumors. LESSONS: PSP in a young man is really uncommon, and is confused with malignant tumors. A histopathological examination is considered as the diagnostic gold standard for this uncommon tumor. Surgery is the main treatment.