Characterization of a de novo constitutional balanced translocation

Abstract Reciprocal balanced translocations associated with clinical features are very rare. This study reports cytogenetic and molecular cytogenetic findings in a 3-year-old patient with mild developmental retardation, slight hypotone with a de novo balanced 46, XX, t(2; 11) (q33; q23) translocation. G-banded chromosomes and FISH-Analysis were used to examine the patient's karyotype as well as her parents'. FISH-probes prepared with specific RP11-BAC clones mapped near 2q33 and 11q23 regions were used to characterize the location of the breakpoints. The FISH results revealed that one of the break points is located within the human NBEAL1-Gene locus on chromosome 2, suggesting a correlation between this gene disruption and the patient’s mild developmental retardation. 

25-Hydroxy Vitamin D Level and Its Correlation with Mean Platelet Volume in Preeclampsia

Background: Preeclampsia is one of the challenging complications of pregnancy, of which little is known about its etiology and pathogenesis. Many studies have shown higher mean platelet volume (MPV) in preeclamptic patients. Vitamin D deficiency is in association with larger-size platelets. Thus, we aimed to determine the correlation of vitamin D with MPV in preeclamptic patients. Methods: This prospective case–control study was conducted in two tertiary hospitals in Tehran, Iran. Overall, 85 preeclamptic pregnant women and 85 normotensive pregnant women were entered between 2017 and 2018. Serum vitamin D concentration (ng/ml) and MPV (femtoliter) were measured for all patients. Results: MPV was significantly higher in the cases compared to controls (10.59±1.08 vs 8.10±0.95, P=0.0001). In addition, serum vitamin D level in the preeclamptic group was significantly lower in compare to the control group (17.79±11.03 vs 30.24±12.49; P=0.0001). In multivariate logistic regression analysis, high age of mother (OR: 1.13; 95% CI: 1.01-1.27; P=0.03), low level of serum vitamin D (OR: 0.93; 95% CI: 0.87-0.99; P=0.02) and high MPV (OR: 8.83; 95% CI: 4.17-18.67; P=0.0001) were independent predictors of preeclampsia. Moreover, a correlation analysis revealed that vitamin D levels correlated negatively with MPV (r= -0.41, P<0.0001). Conclusion: Low levels of vitamin D in preeclamptic pregnancy are associated with higher platelet activity and thrombosis. In fact, the increment of MPV level might be a potential pathway for adverse outcomes of pregnancy including preeclampsia in the context of vitamin D deficiency.

Outcome of Vaginal Progesterone as a Tocolytic Agent: Randomized Clinical Trial

Vaginal progesterone has a potential beneficial effect in postponing of preterm labor by suppression of prostaglandins cascades. Although different studies evaluated the use of progesterone for preterm birth, the exact effect of which on prolongation of pregnancy remains unclear. Seventy two women who underwent preterm labor were managed by magnesium sulfate. Then they were randomly assigned to continue pregnancy either by applying vaginal progesterone (400 mg) until delivery or without using any drug. Gestational age mean at the time of delivery (P = 0.039) and postponing delivery mean time (P = 0.048) were significantly higher in progesterone group. Comparison of neonatal outcomes between two groups of patients showed meaningful benefits of progesterone in increasing of neonatal weight, reduction of low birth weight babies, and lowing neonate admitted in NICU

Afghan migrants face more suboptimal care than natives: a maternal near-miss audit study at university hospitals in Tehran, Iran.

BACKGROUND: Women from low-income settings have higher risk of maternal near miss (MNM) and suboptimal care than natives in high-income countries. Iran is the second largest host country for Afghan refugees in the world. Our aim was to investigate whether care quality for MNM differed between Iranians and Afghans and identify potential preventable attributes of MNM. METHODS: An MNM audit study was conducted from 2012 to 2014 at three university hospitals in Tehran. Auditors evaluated the quality of care by reviewing the hospital records of 76 MNM cases (54 Iranians, 22 Afghans) and considering additional input from interviews with patients and professionals. Main outcomes were frequency of suboptimal care and the preventable attributes of MNM. Crude and adjusted odds ratios with confidence intervals for the independent predictors were examined. RESULTS: Afghan MNM faced suboptimal care more frequently than Iranians after adjusting for educational level, family income, and insurance status. Above two-thirds (71%, 54/76) of MNM cases were potentially avoidable. Preventable factors were mostly provider-related (85%, 46/54), but patient- (31%, 17/54) and health system-related factors (26%, 14/54) were also important. Delayed recognition, misdiagnosis, inappropriate care plan, delays in care-seeking, and costly care services were the main potentially preventable attributes of MNM. CONCLUSIONS: Afghan mothers faced inequality in obstetric care. Suboptimal care was provided in a majority of preventable near-miss events. Improving obstetric practice and targeting migrants' specific needs during pregnancy may avert near-miss outcomes

Performance and Predictive Value of First Trimester Screening Markers for Down Syndrome in Iranian Pregnancies

Objective: To investigate the performance of first trimester Down syndrome (DS) screening markers in Iranian pregnancies.Although sonographic and serum markers are currently recommended for the first trimester screening of Down syndrome, the screening performance of the markers depends on the race and ethnicity. Materials and methods: A retrospective case-control study using first trimester screening results recorded with the prenatal diagnostic multi-centers in Iran. A total of 6,384 pregnant women were examined from March 2012 to February 2017. Totally 100 Down syndrome cases and 266 matched controls were selected and the maternal characteristics, sonographic and biochemical screening data were collected. Statistical analysis was performed using logistic regression and descriptive statistics. A decision tree model was designed using the chi-squared automatic interaction detection method based on serum markers. Results: For screening of DS pregnancies, PAPP-A (cut-off 0.795 MoM) yielded the highest sensitivity (86%) and NB marker presented highest specificity (96.24%). combination of the biochemical markers PAPP-A and β-hCG (cut-off: 1.55 MoM) showed the highest sensitivity over other combined markers. The decision-tree model based on serum markers improved (91% DR For a 5% FPR) first trimester screening performance. Conclusion: The novel decision-tree model base on serum markers revealed a better predictive value to achieve high sensitivity and specificity of first trimester Down syndrome screening in Iranian population

Androgen receptor gene mutations in 46, XY females

The androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. The primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. This prevents normal androgen action and thus leads to impaired virilization. A point mutation of the androgen receptor gene affecting two siblings with complete androgen insensitivity syndrome is described. On examination they both had normal external female genitalia.&#13; Genomic DNA was extracted from EDTA-preserved blood samples and isolated according to standard procedures. The androgen receptor gene was screened for mutations using an automated sequence analyzer (ABI Prism 310). Both girls possess one substitutions (G&gt;A at position 2086 in exon 4), leading to D695N mutation. Mother was found to be a heterozygous carrier for this mutation. GTG banded karyotype of the girls showed they both have male karyotype (46, XY). In addition, the SRY gene screening showed they both have intact SRY gene. The labioscrotal folds contained palpable gonads measuring 1.5 cm in largest diameter. Ultrasound examination of the pelvis revealed absence of the uterus. &#13; Serum follicle stimulating hormone (FSH), luteinizing hormone (LH), and testosterone values were higher than normal range. &#13; To our knowledge this is the first confirmed instance of AIS due to an AR mutation occurring in familial cases in this country. Furthermore, the phenotype has complete association with this mutation. &#13; KEY WORDS: Androgen insensitivity syndrome, androgen recepto

Uniparental disomy resulting from heterozygous Robertsonian translocation (13q14q) in both parents

&lt;font face="TimesNewRoman" size="2"&gt;&lt;p align="left"&gt;Uniparental disomy (UPD) is a situation in which both members of a chromosome pair are inherited from one parent. This study has been conducted on a family with a five year-old healthy girl and a mentally retarded boy. The parents were first cousins and they both had Robertsonian translocation between their long arm of chromosome 13 and 14 [45, XY t (13q14q)]. Their affected son had a similar karyotype. Their daughter&amp;rsquo;s karyotype revealed the presence of a homozygous Robertsonian 13/14 translocation 44, XX t (13q14), t(13q14q). According to the clinical findings it is possible to conclude that the affected boy suffers from UPD.&lt;/p&gt;&lt;/font&gt;&lt;font face="TimesNewRoman,Bold" size="1"&gt;&lt;p align="left"&gt;&lt;strong&gt;KEY WORDS&lt;/strong&gt;: &lt;font face="TimesNewRoman" size="2"&gt;Robertsonian translocation, uniparental disomy, chromosome 14.&lt;/font&gt;&lt;/p&gt;&lt;/font&gt

Incidence and risk factors for wound disruption following cesarean section

Introduction: Cesarean section is one of the most commonly performed surgical procedures in hospitals. The rates of surgical site infection after cesarean section reported in the literature range from 3% to 15 %. The aim of this study was to identify incidence and risk factors of wound disruption following cesarean delivery. Materials and Methods : A retrospective multistage study in two phases (the first stage a historical cohort and the second stage a case control) was carried out over a 6 year period from 21st March 2002 to 20th Feb 2008 in Mahdieh Tertiary Care Hospital. In the first stage, we identified wound disruption cases with using wound complication code in all cesarean sections were performed during this period. In the second phase of the study, risk factors associated with the wound disruption after cesarean section were evaluated and for each case two controls were selected. These controls were non complicated cesarean section patients just before and after each disrupted cesarean wound. Results : A total 10525 women who underwent cesarean section during this period, 48 (0.4%) were complicated by wound disruption. Using a multivariable logistic regression model, the following risk factors were identified: diabetes (P=0.02, OR: 5.46; 95%CI: 1.02-49.2), hypertension disorders(P=0.001; OR: 5 95%CI: 1.7-14.3), emergency cesarean delivery (P=0.01; OR: 3.3; 95%CI: 1.2-9.4), post cesarean fever (P=0.0001; OR: 16.2; 95% CI: 4.4-59), and post cesarean laparatomy (P=0.013, OR: 6.3; 95%CI: 6.3-62). Conclusion: Identification of the predictable risk factors for wound disruption and control of these factors may lead to decrease of wound disruption after cesarean section

Clinical Significance of Hyperechogenic Bowel in Second-Trimester Ultrasound Scan

Background: This study aimed to report the incidence of bowel obstruction, chromosomal abnormality, congenital infection, fetal growth restriction (FGR), and otheranomalies in fetuses with hyperechogenic bowel (HEB) diagnosed during the second-trimester fetal ultrasound scan.Methods: In total, 350 fetuses with a diagnosis of HEB in our maternal-fetal medicine referral center were evaluated with a detailed fetal ultrasound examination by an experienced perinatologist. If no associated anomalies were observed, women were counseled about the risk of potential fetal disorders and offered appropriate testing, including detailed fetal sonography, karyotype, maternal cytomegalovirus (CMV), and toxoplasmosis serology,as well as serial fetal biometry and bowel diameter follow up.Results: Altogether there were 18(5.1%) fetuses with associated problems, including major anomalies, chromosomal abnormalities, and CMV infection. Moreover, 32(9.1%) fetuses developed FGR during follow-up.Conclusion: An overall rate of adverse conditions of 14.2% with prenatally detected HEB serves to inform obstetricians and emphasizes the importance of careful screening fetal ultrasound studies and timely referral for an additional assessment about associated findings.It should be noted that isolated HEB has good outcomes