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Phenotypic Features and Inheritance Pattern of Emanuel Syndrome: An Indian Perspective 伊曼纽尔综合征的表型特征和遗传模式:一个印度的视角
Q4 Medicine Pub Date : 2021-09-30 DOI: 10.5005/jp-journals-10016-1228
B. Koshy, V. Kamath, V. Srivastava, M. Chacko, S. Yuvarani, S. Oommen
Aim and objective: To study the phenotypic features and inheritance patterns in children diagnosed with Emanuel syndrome (ES). Materials and methods: All children who underwent cytogenetic analysis at the Christian Medical College, Vellore and whose karyotypes showed the supernumerary chromosome 22 derived from an unbalanced translocation (11;22)(q23;q11.2) were included. Karyotypes of family members were retrieved from hospital records. Metaphases were obtained from phytohemagglutinin-stimulated peripheral blood cultured using standard protocols. At least 20 Giemsa-banded metaphases were analyzed and reported in accordance with the International System for Human Cytogenomic Nomenclature. The clinical features and imaging findings were retrieved from our medical records. The karyotype findings of parents and family history including the obstetric history of all mothers were recorded. Results: There were eight children, three girls and five boys, all of whom were from unrelated families. The age at presentation ranged from 8 months to 8 years of age. Three families presented with significant family history in the form of previous sibling deaths, recurrent abortions in the mother, and maternal siblings’ death. All eight children presented with global developmental delay. Preauricular sinus was found in six children (6/8,75%), while microcephaly and hypotonia in five each (5/8,62.5%). More than half of our children presented with structural cardiac and brain malformations. In three children, the der(22) was found to have originated from a maternal source of the t(11;22). All three mothers who harbored this translocation were phenotypically normal. Conclusion: The characteristic clinical features of ES found in our study included preauricular sinus, microcephaly, hypotonia, cardiac defects, and structural brain malformations. The maternal source of the t(11;22) was the commonest mode of inheritance among children diagnosed with ES. Clinical significance: Emanuel syndrome is a rare syndrome and it is extremely important to identify the phenotypic features of this clinical entity since early intervention can aid in appropriate counselling and offering prenatal testing. The majority of children diagnosed with ES were found to have inherited this genetic defect due to a translocation (11;22) running in the family. Hence, a clear understanding of the reproductive outcomes of the t(11;22) is of vital importance in counseling the family members and offering prenatal testing.
目的与目的:探讨伊曼纽尔综合征(ES)患儿的表型特征及遗传模式。材料和方法:所有在Vellore基督教医学院接受细胞遗传学分析的儿童,其核型显示来自不平衡易位的多余22号染色体(11;22)(q23;q11.2)被纳入。从医院记录中检索家庭成员的核型。采用标准方案从植物血凝素刺激的外周血中获得中期。根据国际人类细胞基因组命名法,至少有20个giemsa带状中期被分析和报道。临床特征和影像学结果从我们的医疗记录中检索。记录父母的核型和家族史,包括所有母亲的产科史。结果:8名儿童,3名女孩,5名男孩,均来自无血缘关系家庭。发病年龄为8个月至8岁。三个家庭有明显的家族史,表现为以前的兄弟姐妹死亡、母亲反复流产和母兄弟姐妹死亡。所有8名儿童均表现出全面发育迟缓。耳前窦6例(6/8,75%),小头畸形和低张力各5例(5/8,62.5%)。超过一半的儿童表现出结构性心脏和大脑畸形。在三个孩子中,发现der(22)起源于母体的t(11;22)。所有三个携带这种易位的母亲在表型上都是正常的。结论:本组ES的特征性临床表现包括耳前窦、小头畸形、低张力、心脏缺陷和脑结构性畸形。母源t(11;22)是诊断为ES的儿童中最常见的遗传模式。临床意义:伊曼纽尔综合征是一种罕见的综合征,识别这种临床实体的表型特征非常重要,因为早期干预有助于适当的咨询和提供产前检查。大多数被诊断为ES的儿童被发现由于易位而遗传了这种基因缺陷(11;22)。因此,清楚地了解t(11;22)的生殖结果对于咨询家庭成员和提供产前检查至关重要。
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引用次数: 1
A Study of Attitude, Awareness, and Knowledge of Vasectomy among Married Men in Urban Slums of Chennai, Tamil Nadu, India 印度泰米尔纳德邦钦奈城市贫民窟已婚男性对输精管结扎的态度、意识和知识研究
Q4 Medicine Pub Date : 2021-09-30 DOI: 10.5005/jp-journals-10016-1226
S. Chinnaiyan, B. Babu
Ab s t r Ac t Background: Sterilization is a permanent birth control method, with nearly twice as many couples, are choosing female sterilization over male sterilization. Vasectomy is a safe, cheaper, less complicated, and simple procedure in permanent sterilization methods than tubectomy. Aim and objective: To assess attitude, awareness, and knowledge of vasectomy among married men in urban slums of Chennai, Tamil Nadu. Materials and methods: It is a descriptive cross-sectional study carried among married men in the urban slums of Chennai age 21–49. Simple random sampling is used to select the respondents. Descriptive analysis was done using appropriate R studio software. Results: Among our 132 respondents, most of them are from 20 to 29 (40.90%). About 84% of the participants heard about vasectomy. Awareness of contraceptive methods is mostly through television (75%) and by their family and friends (72%). Our study discovered a gap in the knowledge and attitudes toward vasectomy, which the study revealed that respondents had moderate knowledge but had a negative attitude toward vasectomy. Conclusion: Many men believe that avoiding pregnancy is exclusively the woman’s responsibility. Men and women differed in their experience of sterilization. Family and physicians have an important role in ensuring that women know contraception options before the sterilization procedure. Adequate health education campaigns and regular counseling can bring out positive attitudes among people on vasectomy in the future.
Ab s t r Ac t背景:绝育是一种永久性的节育方法,选择女性绝育而不是男性绝育的夫妇数量几乎是原来的两倍。输精管切除术是一种安全、廉价、不那么复杂和简单的永久性绝育方法。目的和目的:评估泰米尔纳德邦钦奈城市贫民窟已婚男性对输精管切除术的态度、意识和知识。材料和方法:这是一项描述性的横断面研究,在金奈城市贫民窟21-49岁的已婚男性中进行。采用简单的随机抽样来选择受访者。使用合适的R studio软件进行描述性分析。结果:在我们的132名受访者中,大多数人年龄在20至29岁之间(40.90%)。约84%的参与者听说过输精管切除术。对避孕方法的认识主要通过电视(75%)以及家人和朋友(72%)。我们的研究发现,在对输精管切除术的知识和态度方面存在差距,研究表明,受访者对输精管切除手术的知识和看法适中,但态度消极。结论:许多男人认为避免怀孕完全是女人的责任。男性和女性的绝育经历各不相同。家庭和医生在确保妇女在绝育手术前了解避孕选择方面发挥着重要作用。充分的健康教育活动和定期的咨询可以在人们未来对输精管切除术产生积极的态度。
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引用次数: 0
Trifactorial Influence—Antisperm Antibody, Anti-Chlamydia Antibodies, and Thyroid Levels in Infertility 不孕患者抗精子抗体、抗衣原体抗体和甲状腺水平的三因素影响
Q4 Medicine Pub Date : 2021-09-30 DOI: 10.5005/jp-journals-10016-1223
Sopia A Rajamanickam, Joseph Pi Danislas, K. Mohanram, Shanthi Dinakaran, A. J. Henry
Ab s t r Ac t Aim and objective: The present study determines the incidence of anti-Chlamydia antibodies (ACA), antisperm antibody (ASA), and thyroid levels in serum of infertility patients and statistically determines the significance of all three study parameters. Materials and methods: A cross-sectional study was conducted on volunteers of 190 patients both male and female reporting to the Infertility Clinic of hospital and 178 patients including pregnant women patients were used as control. Serum from patients was collected and analyzed for the presence of anti-Chlamydia antibodies, ASA, serum T3, T4, and thyroid-stimulating hormone (TSH) levels by enzyme-linked immunosorbent assay (ELISA). Results: Infertility patients representing 12.6% of the study population tested positive for anti-Chlamydia antibodies. 21.6% of 190 patients had high ASA levels and these levels were found to be statistically significant p < 0.001 when compared with control. Elevated thyroid levels of the study population observed as increased T3 in 26 patients and T4 in 18 patients with 16 patients having increased TSH and the increased levels of thyroid in infertility patients compared with control is statistically significant p value <0.01. Correlation between all three study parameters is statistically significant [0.01 level (two-tailed)]. Conclusion: Significantly higher levels of anti-Chlamydia antibodies and ASA are found associated in infertile patients as is elevated T3, T4, and TSH. All three parameters together can cause infertility showing the multidimensional factors for the development of infertility. Clinical significance: Patients with infertility should be screened for all three study parameters viz. ACA, ASA, and thyroid levels and subsequent treatment protocols to resolve all possible adverse results to within normal levels for the success of ART. Research highlights • The present study found higher levels of anti-Chlamydia antibody in patients with primary infertility compared with the control group indicating the strong association between chlamydial infections and infertility. • The present study found higher levels of antisperm antibodies in the serum of patients with primary infertility compared with the control group implying a significant role for ASA and development of infertility. • Thyroid disorders such as hypothyroidism due to elevated TSH and hyperthyroidism associated with increased total serum T3 or T4 are several times higher in infertility patients when compared with the general population providing evidence for thyroid imbalance and infertility. • All three study parameters—anti-Chlamydia antibodies, ASA, and thyroid levels occurring together in any one patient may tend to cause infertility.
目的和目的:本研究确定了不孕患者血清中抗衣原体抗体(ACA)、抗精子抗体(ASA)和甲状腺水平的发生率,并从统计学上确定了所有三个研究参数的显著性。材料和方法:对190名男性和女性患者的志愿者进行横断面研究,并将178名患者(包括孕妇)作为对照。收集患者血清,并通过酶联免疫吸附试验(ELISA)分析是否存在抗衣原体抗体、ASA、血清T3、T4和促甲状腺激素(TSH)水平。结果:占研究人群12.6%的不孕患者的抗衣原体抗体检测呈阳性。190名患者中21.6%的患者ASA水平较高,与对照组相比,这些水平具有统计学意义,p<0.001。与对照组相比,研究人群甲状腺水平升高,26名患者T3升高,18名患者T4升高,其中16名患者TSH升高,不孕患者甲状腺水平升高具有统计学意义,p值<0.01。所有三个研究参数之间的相关性具有统计学意义[0.01水平(双尾)]。结论:不孕患者的抗衣原体抗体和ASA水平显著升高,T3、T4和TSH水平升高。这三个参数加在一起都会导致不孕,这表明了不孕发展的多方面因素。临床意义:不孕患者应筛查所有三个研究参数,即ACA、ASA和甲状腺水平,以及随后的治疗方案,以将所有可能的不良结果解决在正常水平内,从而使ART成功。研究重点•本研究发现,与对照组相比,原发性不孕患者的抗衣原体抗体水平更高,这表明衣原体感染与不孕之间存在密切联系。•本研究发现,与对照组相比,原发性不孕患者血清中的抗精子抗体水平更高,这意味着ASA和不孕的发展具有重要作用。•与提供甲状腺失衡和不孕证据的普通人群相比,不孕患者的甲状腺疾病,如TSH升高引起的甲状腺功能减退和与总血清T3或T4升高相关的甲状腺功能亢进,要高出数倍。•所有三个研究参数——抗衣原体抗体、ASA和甲状腺水平——在任何一名患者身上同时出现都可能导致不孕。
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引用次数: 0
Hypothyroidism and Hyperprolactinemia as a Cause of Primary Infertility: A Single Center Study 甲状腺功能减退和高催乳素血症作为原发性不孕症的原因:一项单中心研究
Q4 Medicine Pub Date : 2021-09-30 DOI: 10.5005/jp-journals-10016-1222
Nihida Akhter, Asma Khanday, I. Mir
Introduction: Infertility is a common condition, with important medical economic and psychological implications. We have observed a surge in cases of primary infertility in our OPD of late. Hypothyroidism and hyperprolactinemia have been implicated as a cause of primary infertility. Materials and methods: We conducted a prospective cross-sectional study in our hospital, Government Medical College, on an OPD basis, between May 2017 and January 2019, to check for hypothyroidism and hyperprolactinemia as a cause of primary infertility among females, after ruling out other common implicated factors that may be the cause of infertility. We labeled the study group as group I and the control group as group II. Results: The mean age of patients in group I was 26.21 years, and that in group II was 25.63 years, respectively. The average time since marriage in group I was found to be 1.67 years and that in group II was 1.78 years, respectively. The rural–urban ratio of patients in group I was 23:27 and that in group II was 34:16. The mean TSH level in group I was found to be 7.11 ± 1.91 and that in group II was found to be 3.28 ± 2.11. The mean levels of serum prolactin in group I were 41.62 ± 20.02 and that in group II were 22.36 ± 15.61, respectively. There was a high prevalence of hypothyroidism and hyperprolactinemia in group I when compared with group II. Conclusion: This study showed significantly higher prolactin and TSH levels among the primary infertile female patients. Therefore, for proper management of infertile cases, it may be necessary to look for thyroid dysfunction and treat it accordingly.
引言:不孕是一种常见的疾病,具有重要的医学、经济和心理意义。最近,我们在门诊部观察到原发性不孕病例激增。甲状腺功能减退和高泌乳素血症被认为是原发性不孕的原因之一。材料和方法:2017年5月至2019年1月,我们在我院政府医学院进行了一项前瞻性横断面研究,以门诊部为基础,在排除了可能导致不孕的其他常见相关因素后,检查甲状腺功能减退和高泌乳素血症是否是女性原发性不孕的原因。我们将研究组标记为第一组,将对照组标记为第二组。结果:第一组患者的平均年龄为26.21岁,第二组为25.63岁。第一组和第二组的平均结婚时间分别为1.67年和1.78年。第一组患者的城乡比例为23:27,第二组为34:16。I组的TSH平均水平为7.11±1.91,II组为3.28±2.11。血清泌乳素水平Ⅰ组为41.62±20.02,Ⅱ组为22.36±15.61。与II组相比,I组甲状腺功能减退和高泌乳素血症的患病率较高。结论:本研究显示原发性不孕女性患者泌乳素和TSH水平显著升高。因此,为了正确处理不孕病例,可能有必要寻找甲状腺功能障碍并进行相应的治疗。
{"title":"Hypothyroidism and Hyperprolactinemia as a Cause of Primary Infertility: A Single Center Study","authors":"Nihida Akhter, Asma Khanday, I. Mir","doi":"10.5005/jp-journals-10016-1222","DOIUrl":"https://doi.org/10.5005/jp-journals-10016-1222","url":null,"abstract":"Introduction: Infertility is a common condition, with important medical economic and psychological implications. We have observed a surge in cases of primary infertility in our OPD of late. Hypothyroidism and hyperprolactinemia have been implicated as a cause of primary infertility. Materials and methods: We conducted a prospective cross-sectional study in our hospital, Government Medical College, on an OPD basis, between May 2017 and January 2019, to check for hypothyroidism and hyperprolactinemia as a cause of primary infertility among females, after ruling out other common implicated factors that may be the cause of infertility. We labeled the study group as group I and the control group as group II. Results: The mean age of patients in group I was 26.21 years, and that in group II was 25.63 years, respectively. The average time since marriage in group I was found to be 1.67 years and that in group II was 1.78 years, respectively. The rural–urban ratio of patients in group I was 23:27 and that in group II was 34:16. The mean TSH level in group I was found to be 7.11 ± 1.91 and that in group II was found to be 3.28 ± 2.11. The mean levels of serum prolactin in group I were 41.62 ± 20.02 and that in group II were 22.36 ± 15.61, respectively. There was a high prevalence of hypothyroidism and hyperprolactinemia in group I when compared with group II. Conclusion: This study showed significantly higher prolactin and TSH levels among the primary infertile female patients. Therefore, for proper management of infertile cases, it may be necessary to look for thyroid dysfunction and treat it accordingly.","PeriodicalId":38998,"journal":{"name":"International Journal of Infertility and Fetal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41715327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Role of TP53 Gene Polymorphism in Male Infertility TP53基因多态性在男性不育中的作用
Q4 Medicine Pub Date : 2021-07-29 DOI: 10.5005/jp-journals-10016-1218
Rekha Govindhasamy, P. Govindhasamy, Rajitha Vanga, Pushpa P. Burute
Introduction: The TP53 gene is located on chromosome 17p13.1. P53 gene considered as the guardian of the genome belongs to a three- membered gene family p53 , p63 , and p73 . 1 p53 plays a vital role in human cancer and whose mutation was observed in nearly 50% of cancer all around the world. In the present study, genotype distribution was assessed in 147 infertile males, fertile males, and the associations of TP53 Arg72Pro polymorphism with hormonal and seminal parameters were investigated. Materials and methods: A total of 147 infertility men and 150 fertile men were taken for the study. Polymerase chain reaction (PCR) was carried out to amplify the exon 4 of the human p53 CODON 72 genotyping was performed by restriction fragments length polymorphism (RFLP). Results: In summary, the AA genotype and the A allele are significantly associated with azoospermic men when compared to fertile men. Conclusion: The study found preliminary evidence demonstrated that the TP53 gene Arg72 Pro polymorphism contributes significant association to male infertility. Aim and objective: To analyze the association of p53 gene polymorphism in male infertility cases in the study population.
引言:TP53基因位于染色体17p13.1上。被认为是基因组守护者的P53基因属于P53、p63和p73三元基因家族。1 p53在人类癌症中起着至关重要的作用,其突变在全球近50%的癌症中被观察到。在本研究中,对147名不育男性和可育男性的基因型分布进行了评估,并研究了TP53 Arg72Pro多态性与激素和精液参数的关系。材料和方法:共选取147名不育男性和150名有生育能力的男性进行研究。应用聚合酶链式反应(PCR)扩增人p53基因第4外显子,利用限制性片段长度多态性(RFLP)进行基因分型。结果:总之,与有生育能力的男性相比,AA基因型和A等位基因与无精子症男性显著相关。结论:初步证据表明,TP53基因Arg72Pro多态性与男性不育有显著相关性。目的和目的:分析p53基因多态性与研究人群男性不育病例的相关性。
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引用次数: 1
Effectiveness of Cognitive-behavioral Therapy on Psychological Well-being in Infertile Women: A Randomized Controlled Trial 认知行为疗法对不孕妇女心理健康的影响:一项随机对照试验
Q4 Medicine Pub Date : 2021-07-29 DOI: 10.5005/jp-journals-10016-1220
Zahra Marashi, N. Behroozi, M. Haghighi-zadeh, R. Nikbakht, Z. Abbaspoor
bstrAct Background: Psychological well-being is a psychological variable that affects infertile women. This study aimed to explore the effect of cognitive- behavioral therapy (CBT) on the psychological well-being of infertile women. Materials and methods: Sixty-eight women with infertility randomly allocated into two groups: CBT ( n = 34) and control ( n = 34) groups. The women in the CBT program were divided into two subgroups of 12 and one group of 10, with each receiving eight therapy sessions (each session lasting 90 minutes). Psychological well-being was measured using a demographic questionnaire and the short-form Ryff Psychological well-being scale. The independent and paired t -tests, Chi-square, repeated measures, and ANCOVA tests were used to analyze the data. Results: Two women from the CBT and three from the control groups withdrew from the study. In the CBT group, the general psychological well- being score and self-acceptance, positive relationship, autonomy, purpose in life, personal growth, and environmental mastery dimensions’ scores were improved after the intervention. The scores also were significantly higher in the case group than those in the control group ( p < 0.001). Conclusion: Cognitive-behavioral therapy can improve all aspects of psychological well-being, including self-acceptance, positive relationships, autonomy, purpose in life, personal growth, and environmental mastery in infertile women.
bstrAct背景:心理健康是影响不孕妇女的一个心理变量。本研究旨在探讨认知行为疗法(CBT)对不孕妇女心理健康的影响。材料和方法:68名不孕妇女随机分为两组:CBT组(n=34)和对照组(n=34)。CBT项目中的女性被分为两组,每组12人,一组10人,每组接受8次治疗(每次治疗持续90分钟)。心理幸福感采用人口统计学问卷和简短的Ryff心理幸福感量表进行测量。采用独立和配对t检验、卡方检验、重复测量和ANCOVA检验对数据进行分析。结果:CBT的两名女性和对照组的三名女性退出了研究。CBT组的总体心理幸福感和自我接纳、积极关系、自主性、生活目标、个人成长和环境掌握维度的得分在干预后有所提高。病例组的得分也明显高于对照组(p<0.001)。结论:认知行为治疗可以改善不孕妇女心理健康的各个方面,包括自我接纳、积极关系、自主性、生活目标、个人成长和环境控制。
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引用次数: 1
“One Size does not Fit All” during Ovarian Stimulation for IVF “一种尺寸不适合所有人”在试管婴儿卵巢刺激
Q4 Medicine Pub Date : 2021-07-29 DOI: 10.5005/jp-journals-10016-1219
K. Rao, Rupali Khurana, V. Rao
Ovarian stimulation (OS) is the heart of IVF. Various OS protocols are developed and many of them are still being explored to provide an individualized approach, making the care more patient-centric. Premature LH surge is one of the potential side effects accompanying the OS, and to prevent this phenomenon either GnRH analogs or progesterone are being used. The following case report is of a PCOS patient undergoing COS using progesterone-primed ovarian stimulation (PPOS) which was modified by adding GnRH antagonist in the middle of stimulation due to accelerated growth of a single follicle in one ovary. The premature luteinization was prevented and the stimulation cycle was salvaged, giving a good outcome in terms of mature oocyte, grade of embryos, and pregnancy. This case report emphasizes the importance of strict monitoring as well as an individualization of each stimulation cycle to case to case basis for achieving the best outcome.
卵巢刺激(OS)是试管婴儿的核心。已经开发了各种操作系统协议,其中许多协议仍在探索中,以提供个性化的方法,使护理更加以患者为中心。LH过早激增是OS的潜在副作用之一,为了防止这种现象,正在使用GnRH类似物或孕酮。以下病例报告是一名PCOS患者使用孕酮引发的卵巢刺激(PPOS)进行COS,由于一个卵巢中单个卵泡的生长加速,在刺激过程中添加GnRH拮抗剂对其进行了修改。防止了过早的黄体生成,挽救了刺激周期,在成熟卵母细胞、胚胎等级和妊娠方面取得了良好的结果。本病例报告强调了严格监测的重要性,并强调了每个刺激周期的个体化,以实现最佳结果。
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引用次数: 0
Otocephaly: Agnathia-Microstomia-Synotia Syndrome 耳头畸形:Agnathia-Microstomia-Synotia综合征
Q4 Medicine Pub Date : 2021-07-29 DOI: 10.5005/jp-journals-10016-1195
T. Kitova, B. Kitov
The aim of the study is to present otocephaly, which is a rare congenital lethal malformation. Until this moment, only a little bit more than 100 cases worldwide were reported, and only 22 cases of prediagnosed otocephaly. Background: Otocephaly or agnathia-microstomia-synotia syndrome (SAMS) is characterized by agenesis of mandible (agnathia), disposition or fusion of the auricle (synotia), microstomia, and complete or partial lack of language (aglossia), which often ends up lethal. Case description: A 499.7 g male fetus was obtained after a therapeutic abortion during the 23rd gestational week at the Center for Maternity and Neonatology, Embryo-fetopathology Clinic, Tunis, Tunisia. The mother is an 18-year-old with close relative marriage with first-degree incest, primigravida. Examination of the fetus revealed microcephaly with craniosynostosis, hypertelorism, closed eyelid exophthalmos, one nostril, point microstomia, mandibular agenesis, bilateral, and auditory cysts of neck. The ears are located at the level of the neck. A study of the brain and the base of the skull revealed holoprosencephaly and sphenoid bone agenesis. There are no internal organ abnormalities. Conclusion: In cases where, at the end of the second trimester of pregnancy, polyhydramnios is detected, inability to visualize the mandible, and malposition of ears, otocephaly should be suspected. In these cases, the decision to interrupt pregnancy should be taken by a multidisciplinary team, after an magnetic resonance imaging, which is much better in visualizing location of the ears and other facial malformations and the presence of other associated anomalies. Clinical significance: Otocephaly (SAMS) is usually incompatible with life, which is why it is important to perform prenatal diagnosis in order to make prognosis for pregnancy.
本研究的目的是介绍一种罕见的先天性致命畸形——耳头畸形。直到现在,全世界只报告了100多例病例,只有22例未确诊的耳头畸形。背景:耳头畸形或耳廓发育不全(agnatia)、耳廓闭合不全或融合(synotia)、小头畸形和完全或部分语言缺乏(aglosia)是SAMS的特征,通常以致死告终。病例描述:在突尼斯突尼斯胚胎-胎儿病理诊所产妇和新生儿中心,在第23周进行治疗性流产后,获得了一个499.7g的男性胎儿。这位母亲是一位18岁的近亲结婚者,有一级乱伦,初迁。胎儿检查显示小头畸形,伴有颅缝闭合、肥大、闭眼突出、单鼻孔、点显微切除、下颌发育不全、双侧和颈部听觉囊肿。耳朵位于脖子的水平线上。对大脑和颅底的研究显示,前脑无裂和蝶骨发育不全。没有内脏异常。结论:在妊娠中期结束时,如果发现羊水过多,无法看到下颌骨,耳朵错位,应怀疑是耳头畸形。在这些情况下,中断妊娠的决定应由多学科团队在进行磁共振成像后做出,磁共振成像可以更好地显示耳朵和其他面部畸形的位置以及其他相关异常的存在。临床意义:耳头畸形(SAMS)通常与生活不相容,这就是为什么进行产前诊断以确定妊娠预后很重要。
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引用次数: 0
Development and Formulation of Phytoestrogen-rich Supplement for Women with Polycystic Ovary Syndrome 多囊卵巢综合征女性富植物雌激素补充剂的研制与配方
Q4 Medicine Pub Date : 2021-07-29 DOI: 10.5005/jp-journals-10016-1221
P. Narayanan, G. Kalidoss, Supriya Velraja
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引用次数: 0
Role of MTHFR Gene Polymorphisms in Male Infertility MTHFR基因多态性在男性不育中的作用
Q4 Medicine Pub Date : 2021-04-01 DOI: 10.5005/JP-JOURNALS-10016-1213
Nandhini Balunathan, Vettriselvi Venkatesen, J. Chauhan, Sanjeeva Reddy, V. Perumal, S. Paul
Ab s t r Ac t Background: Folate metabolism plays an important role in appropriate cellular function, DNA methylation, repair, and synthesis. C677T and A1298C variants of methylenetetrahydrofolate reductase (MTHFR) play a role in reduced plasma folate and increase the susceptibility to various multifactorial disorders. Aim and objective: The present study was aimed to detect the association of C677T polymorphism and A1298C polymorphism in the MTHFR gene with male infertility. Materials and methods: In the current study, we analyzed a group of 50 infertile men with a clinical history of nonobstructive azoospermia or severe oligozoospermia. For the control group, we also analyze 50 fertile men. Cytogenetic analysis revealed a normal male karyotype in 50 cases of infertile men, which further subjected to molecular analysis. The expected genotype and allele frequencies were calculated for both infertile men and controls. These frequencies were tested when the study group followed Hardy–Weinberg equilibrium. The interaction between the MTHFR genotypes was calculated using the odds ratio for mutant genotypes as compared to the wild types. To evaluate the risk of the different genotypes, 95% confidence intervals (CI) were calculated. Results: The A1298C polymorphism of the MTHFR gene was present at a statistically increased significance in infertile men. Interpretation and conclusion: We concluded that MTHFR C677T gene polymorphism is not associated with male infertility whereas A1298C gene polymorphism showed a significant increase in male infertility. To better understanding the causes of male infertility, future studies to be conducted in a large population to obtain a better understanding of the complex gene-to-gene interactions.
背景:叶酸代谢在适当的细胞功能、DNA甲基化、修复和合成中起着重要作用。亚甲基四氢叶酸还原酶(MTHFR)的C677T和A1298C变体在血浆叶酸减少和增加对各种多因素疾病的易感性方面发挥作用。目的:探讨MTHFR基因C677T和A1298C多态性与男性不育的关系。材料和方法:在本研究中,我们分析了一组50名有非梗阻性无精子症或严重少精症临床病史的不孕男性。对于对照组,我们还分析了50名有生育能力的男性。细胞遗传学分析显示,50例不育男性的染色体组型正常,并对其进行了进一步的分子分析。计算不育男性和对照组的预期基因型和等位基因频率。当研究组遵循Hardy-Weinberg平衡时,对这些频率进行了测试。MTHFR基因型之间的相互作用是使用突变基因型与野生型相比的优势比来计算的。为了评估不同基因型的风险,计算了95%置信区间(CI)。结果:MTHFR基因A1298C多态性在不育男性中具有统计学意义。解释和结论:我们得出结论,MTHFR C677T基因多态性与男性不育无关,而A1298C基因多态性在男性不育中显著增加。为了更好地了解男性不育的原因,未来将在大量人群中进行研究,以更好地了解复杂的基因与基因的相互作用。
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引用次数: 1
期刊
International Journal of Infertility and Fetal Medicine
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