Retinopathy of prematurity in Ardabil, North West of Iran: Prevalence and risk factors

Retinopathy of prematurity (ROP), which affects the retina of premature infants, is a leading cause of blindness in premature infants worldwide. The aim of this study was to evaluate the frequency and risk factors of retinopathy of prematurity infants referred to Alavi hospital between October 2018 and October 2019. In the present study, 400 infants with gestational age less than 34 weeks and or birth weight of 2000 g or less were enrolled in the study. Required information including sex, gestational age, maternal age, birth weight, type of delivery, oxygen therapy, septicemia, multiple gestations, consanguineous marriage, respiratory problem, and blood exchange were extracted from their hospital records and then included in the data collection form. These infants were also examined for ROP, stage and area of involvement by an experienced ophthalmologist and then classified into two groups including retinopathy and healthy group. Finally, the data were analyzed in SPSS 25 software using chi-square, fisher exact test, t-test, binary logistic regression, and ROC curve analysis. Of the 400 preterm infants studied (57.2% male and 42.8% female), 107 (26.8%) infants had ROP of whom 23 (21.5%) needed treatment (i.e. 5.8% of all infants need treatment). There were 4 (3.7%), 29 (27.1%), and 74 (69.2%) infants with zone I, II, and III, respectively. There were 91 (85%), 11 (10.3%), and 5 (4.7%) infants with stage I, II, and III, respectively. Multivariate logistic regression analysis showed that parental consanguinity (OR=2.263, 95%CI: 1.240-4.130, P=0.008), gestational age less than 32.5 weeks (OR=4.067, 95%CI: 2.340-7.069, P<0.001), and birth weight less than 1725 g (OR=4.522, 95%CI: 2.677-7.637, P<0.001) were associated with a 2.3-fold, 4.1-fold, and 4.5-fold increased risk of ROP, respectively. ROP had no significant relationship with other variables. In summary, the findings of the present study showed that one quarter of the premature infants had ROP. Furthermore, birth weight less than 1725 g, gestational age less than 32.5 weeks, and parental consanguinity were risk factors for ROP, in addition, one-fifth of the infants with ROP needed treatment.

Autosomal recessive SLC30A9 variants in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity

An SLC30A9 associated cerebro renal syndrome was first reported in consanguineous Bedouin kindred by Perez et al in 2017. While the function of the gene has not yet been fully elucidated, it may be implicated in Wnt signaling, nuclear regulation, as well as cell and mitochondrial zinc regulation. In this research report, we present a female proband with two distinct, inherited autosomal recessive loss of function SLC30A9 variants from unrelated parents. To our knowledge, this is the first reported case of a possible SLC30A9 associated cerebro renal syndrome in a nonconsanguineous family. Furthermore, a limited statistical analysis was conducted to identify possible allele frequency differences between populations. Our findings provide further support for an SLC30A9 associated cerebro renal syndrome and may help further clarify the function of this gene.

Association between adverse pregnancy outcomes and preceding risk factors: a cross-sectional study from Nashik District, India

Background The preconception phase of women’s life cycle is critical but comparatively ignored. The presence of health risks is judged as hazardous to the wellbeing of women and their offspring. This study aimed to estimate the prevalence of various pregnancy outcomes and assess the association between certain risk factors and adverse outcomes. Methods As a part of a preconception care intervention project, a baseline survey was conducted in four blocks of Nashik District, India. In this population-based cross-sectional analytical study, we compared cases in the study group (randomly selected one tribal and one non-tribal block) with those of the control group (one tribal and one non-tribal block). A comparison was also made between the tribal and non-tribal blocks in each group. All women who had a pregnancy outcome in the preceding 12 months (01 April 2017 to 31 March 2018) were interviewed. Trained Accredited Social Health Activists conducted the survey under the direct supervision of Auxiliary Nurse Midwives and Medical Officers. Multivariate analysis was carried out to find the adjusted prevalence ratio of having a particular adverse outcome because of the prespecified potential risk factors. Results A total of 9307 women participated in the study. The prevalence of adverse pregnancy outcomes was as follows: abortion in 4.1%, stillbirth in 1.7%, preterm birth in 4.1%, low birth weight in 13.2%, and congenital physical defect in 2.8%. Prevalence of parental consanguinity, pre-existing maternal illness at conception, heavy work during the last six months of pregnancy, tobacco consumption, alcohol consumption, direct exposure to pesticides and domestic violence during pregnancy was 18.5, 2.2, 18.7, 5.6, 0.5, 2.3, and 0.8% respectively. Risk factors associated with abortion included pre-existing illness and heavy work in the last six months of the pregnancy. Consanguinity, tobacco consumption during pregnancy and pre-existing illness were identified as risk factors for stillbirth. Significant risk factors of low birth weight were heavy work in the last six months of pregnancy, pre-existing illness and residence in a tribal area. Conclusion There is a need to emphasize on maternal behaviour, including tobacco consumption, and heavy work during pregnancy, as well as on parental consanguinity and pre-existing maternal illnesses, in order to achieve the best possible pregnancy outcomes.

Screening of the Risk Factors for Congenital Anomalies in Pregnant Women Attending Maternity and Obstetric Hospitals at Mosul City

To determine the possible risk factor leading to common congenital anomalies among fetuses and neonatal and assess possibly causes the lead to congenital anomalies A descriptive study (it was cross-sectional) was adopted to achieve the objectives of the current study for the period from October 16 to May 31, 2020. Data were collected from Nineveh Governorate. An objective sample of (120) women who gave birth to children with congenital anomalies in maternity wards was selected in this study. Data were prepared, organized, and entered a computer file; Statistical Package for the Social Science (SPSS, version 26). In a questionnaire for women in maternity wards in maternity hospitals in the city of Mosul, 120 women who gave birth to deformed children were monitored. Most of the risk factors were important in an association between congenital malformations and parental kinship, fever, and maternal nutrition. Malnutrition during pregnancy also shows an association between parental consanguinity and NTD. It was concluded from the available data that there is a significant association between congenital anomalies, parental consanguinity, maternal nutritional status, and high temperature during pregnancy. Support parents who have a deformed baby or are at risk of having a baby with a congenital problem, by doing basic checkups before and during pregnancy to make sure the pregnancy is healthy. Keywords: Risk Factor, Pregnant Woman, Congenital Anomalies.

Endocrine complications in thalassemic children at a tertiary childcare hospital of South Punjab, Pakistan.

Objective: To find out the frequency of endocrine complications in thalassemic children at a tertiary care hospital. Study Design: Cross Sectional study. Setting: Department of Pediatric Medicine, “The Children’s Hospital and Institute of Child Health (CHICH), Multan,”. Period: 10-08-2018 to 09-05-2019. Material & Methods: A total of 160 children of both gender and aged 2 – 14 years having thalassemia major were enrolled from thalassemia center, CHICH Multan. Venous blood sample (5 ml) was taken and dispatched to central institutional laboratory for performing specific investigations. Results: Majority of the patients, 101 (63.1 %) were male. Overall, mean age was 6.79+2.10 years. Mean no. of transfusions in our study cases was 3.16+1.14 while 128 (80.0%) had to undergo blood transfusion more than twice per month. Parental consanguinity was positive in 122 (76.2%). Mean Fasting blood sugar level was 117.28+32.43 mg/dl and diabetes was noted in 70 (43.8%). Mean FT4 was 0.99+0.12 ng/dl and hypothyroidism was noted in 32 (20.0%). Endocrine complications were noted in 102 (36.8%) cases. Conclusion: Very high frequency of endocrine complications was seen among children having thalassemia. Endocrine complications were significantly associated with age, residential status, number of blood transfusions per month, disease duration and parental consanguinity.

Autosomal recessive SLC30A9 Mutations in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity

An SLC30A9 associated cerebro renal syndrome was first reported in consanguineous Bedouin kindred by Perez et al in 2017. While the function of the gene has not yet been fully elucidated, it may be implicated in Wnt signaling, nuclear regulation, as well as cell and mitochondrial zinc regulation. In this research report, we present a female proband with two distinct, inherited autosomal recessive loss of function SLC30A9 variants from unrelated parents. To our knowledge, this is the first reported case of a possible SLC30A9 associated cerebro renal syndrome in a nonconsanguineous family. Furthermore, a limited statistical analysis was conducted to identify possible allele frequency differences between populations. Our findings provide further support for an SLC30A9 associated cerebro renal syndrome and may help further clarify the function of this gene.

Parental consanguinity increases the risk of congenital malformations

Introduction: Congenital malformation is a physical or structural abnormality present either prenatally or after birth. These anomalies are either primary or secondary malformation. Primary malformations adversely affect body functions, however, the secondary malformations are the structural defects which may have less or no effect on body functions. Primary congenital anomalies show marked variations globally with respect to prevalence. The aim of the current study was to further add to the scientific evidences on the pattern and prevalence of congenital anomalies in cousins and non-cousins’ marriages in Khyber Pakhtunkhwa. Material and Methods: Data of 200 patients (divided into two groups) was collected by convenience sampling through cross-sectional survey. Group-I consisted of 100 gravidas who were diagnosed with anomalous foetus either hydrocephalous, anencephaly or cleft lip/palate and Group-II comprised of infants with inborn heart defects were selected. Results: The study shows 68% consanguineous and 32% non-consanguineous marriages. Hydrocephalous shows the highest rate of incidence (55%) followed by anencephaly (40%) cleft lip/palate (5%), Ventricular Septal Defect (43%), Atrial Septal Defect (29%), Patent Ductus Arteriosus (16%) and Tetralogy of Fallot (12%). The relative risk of hydrocephalus and anencephaly in consanguineous and non-consanguineous marriage was 0.98 while the relative risk of Ventricular Septal Defect and Patent Ductus Arteriosus was 1.1. Rate of miscarriages was comparatively high in cousin marriages. Frequency of CM was higher in multigravida compared to primigravida. Detection rate of hydrocephalus was highest in second trimester, cleft lip/palate in third trimester and anencephaly in first trimester. Conclusion: Parental consanguinity is one of the major risk factors for structural, neurological and cardiac anomalies.