Alcohol, or ethanol, is a major contributor to detrimental diseases and comorbidities worldwide. Alcohol use during pregnancy intervenes the developing embryos leading to morphological changes, neurocognitive defects, and behavioral changes known as fetal alcohol spectrum disorder (FASD). Zebrafish have been used as a model to study FASD; however, the mechanism and the impact of ethanol on oxidative stress and inflammation in the zebrafish FASD model remain unexplored. Hence, we exposed zebrafish embryos to different concentrations of ethanol (0 %, 0.5 %, 1.0 %, 1.25 %, and 1.5 % ethanol (v/v)) at 4-96 hours post-fertilization (hpf) to study and characterize the ethanol concentration for the FASD model to induce oxidative stress and inflammation. Here, we studied the survival rate and developmental toxicity parameters at different time points and measured oxidative stress, reactive oxygen species (ROS) generation, apoptosis, and pro-inflammatory gene expression in zebrafish larvae. Our findings indicate that ethanol causes various developmental abnormalities, including decreased survival rate, spontaneous tail coiling, hatching rate, heart rate, and body length, associated with increased malformation. Further, ethanol exposure induced oxidative stress by increasing lipid peroxidation and nitric oxide production and decreasing glutathione levels. Subsequently, ethanol increased ROS generation, apoptosis, and pro-inflammatory gene (TNF-α and IL-1β) expression in ethanol exposed larvae. 1.25 % and 1.5 % ethanol had significant impacts on zebrafish larvae in all studied parameters. However, 1.5 % ethanol showed decreased survival rate and increased malformations. Overall, 1.25 % ethanol is the ideal concentration to study the oxidative stress and inflammation in the zebrafish FASD model.

UNASSIGNED: Smith-Lemli-Opitz syndrome (SLOS) is an inherited disorder of cholesterol biosynthesis associated with congenital malformations, growth delay, intellectual disability and behavior problems. SLOS is caused by bi-allelic mutations in DHCR7, which lead to reduced activity of 7-dehydrocholesterol reductase that catalyzes the last step in cholesterol biosynthesis. Symptoms of SLOS are thought to be due to cholesterol deficiency and accumulation of its precursor 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC), and toxic oxysterols. Therapy for SLOS often includes dietary cholesterol supplementation, but lipids are poorly absorbed from the diet, possibly due to impaired bile acid synthesis. We hypothesized that bile acid supplementation with cholic acid would improve dietary cholesterol absorption and raise plasma cholesterol levels.
UNASSIGNED: Twelve SLOS subjects (10 M, 2F, ages 2-27 years) who had plasma cholesterol ≤125 mg/dL were treated with cholic acid (10 mg/kg/day) divided twice daily for 2 months. Plasma cholesterol, 7-DHC and 8-DHC were measured by GC-MS. Oxysterols were measured by ultra-high-performance LC-MS/MS. Data were analyzed using paired t-tests.
UNASSIGNED: At baseline, plasma cholesterol was 75 ± 24 mg/dL (mean ± SD; range 43-125, n = 12). After 2 months on cholic acid, mean plasma cholesterol increased to 97 ± 29 mg/dL (p = 0.011). Eleven of 12 subjects showed an increase in plasma cholesterol that varied from 3.8% to 85.7% (mean 38.7 ± 23.3%). 7-Hydroxycholesterol decreased by 20.6% on average (p = 0.013) but no significant changes were seen in 7-DHC or 8-DHC. Mean body weight tended to increase (3.6% p = 0.069). Subjects tolerated cholic acid well and experienced no drug-related adverse events.
UNASSIGNED: In this pilot study, cholic acid supplementation was well tolerated and safe and resulted in an increase in plasma cholesterol in most SLOS subjects. Further controlled longitudinal studies are needed to look for the sustainability of the biochemical effect and possible clinical benefits.

UNASSIGNED: Gastrointestinal (GI) malformations have varied short-term and long-term outcomes reported across various neonatal units in India.
UNASSIGNED: This descriptive study was done to study the clinical profile, outcomes and predictors of mortality in neonates operated for congenital GI malformations in a tertiary neonatal care unit in South India between years 2011 and 2020. Details were collected by retrospective review of the case sheets.
UNASSIGNED: Total of 68 neonates were included with esophageal atresia (EA) in 10, infantile hypertrophic pyloric stenosis (IHPS) in 9, duodenal atresia (DA) in 10, ileal atresia in 8, jejunal atresia in 5, anorectal malformations (ARM) in 11, meconium ileus/peritonitis in 9, malrotation in 2, and Hirschsprung\'s disease (HD) in 4. Antenatal diagnosis was highest in DA (80%). Associated anomalies were maximum in EA (50%), the most common being vertebral, anal atresia, cardiac defects, tracheoesophageal fistula, renal and radial abnormalities, and limb abnormalities association (VACTERL). Overall mortality was 15%. IHPS, DA, Malrotation, HD and ARM had 100 % survival while ileal atresia had the least survival (38%). Gestational age <32 weeks (odds ratio [OR] 12.77 [1.96, 82.89]) and outborn babies (OR 5.55 [1.01, 30.33]) were significant predictors of mortality in babies operated for small intestinal anomalies. None of the surviving infants were moderately or severely underweight at follow-up.
UNASSIGNED: Overall survival of surgically correctable GI anomalies is good. Among the predictors for mortality, modifiable factors such as in-utero referral of antenatally diagnosed congenital anomalies need attention. One-fifth had associated anomalies highlighting the need to actively look for the same. Although these neonates are vulnerable for growth failure, they had optimal growth on follow-up possibly due to standardized total parenteral nutritional policy during neonatal intensive care unit stay.

UNASSIGNED: To study the occurrence of major congenital abnormalities in children of women with type 1 and type 2 diabetes and investigate the association between glycated haemoglobin (HbA1c) and major congenital malformations according to type 1 diabetes and type 2 diabetes separately.
UNASSIGNED: In this register-based study, all singletons born alive from January 1, 2000 to December 31, 2015 in the North Denmark and Central Denmark regions of Denmark and their mothers were included. We used data from Danish health registers and the LABKA database. Logistic regression models were used to compute crude and adjusted prevalence odds ratios (cORs and aORs) with 95% confidence intervals (CIs) for major congenital malformations overall and for subtypes, by type of maternal pre-existing diabetes and HbA1c levels.
UNASSIGNED: Among 314,245 infants included, 2020 (0.64%) had mothers with type 1 diabetes and 498 (0.16%) had mothers with type 2 diabetes. We found an aOR of 2.9 (95% CI: 2.5, 3.5) and 1.9 (95% CI: 1.3; 2.8) for major malformations for type 1 and type 2 diabetes, respectively. The highest occurrence was seen for major congenital heart diseases, but we also observed higher occurrence of several other non-cardiac malformations. For both type 1 and type 2 diabetes, the prevalence of major congenital malformations increased with higher levels of maternal HbA1c with no safe threshold level. Mothers with type 1 diabetes had higher risks than those without diabetes irrespective of HbA1c, and women with HbA1c levels ≥9.5% had 8 times the odds of major congenital malformations [aOR 8.7 (95% CI: 5.4; 14.5)].
UNASSIGNED: The prevalence of major congenital malformations progressively increased with poorer glycemic control during pregnancy, with no obvious safe threshold level, for both type 1 and type 2 diabetes.

OBJECTIVE: Microtia is a congenital auricular malformation, often part of a syndromic form (35%-55% of cases). The accurate prevalence of associated malformations remains to be determined with regard to the heterogeneous results of the previous studies. This study aims to describe in a large population cohort the abnormalities associated with microtia and to determine the most suitable assessment for these children.
METHODS: This is a retrospective and observational cohort study collecting data from the medical records of children affected by microtia, diagnosed or followed-up between 2007 and 2017. Data were collected via a computer database. Clinical data, as well as imaging or genetic results, were noted.
RESULTS: Six hundred ninety four children were included, 587 (84.6%) with unilateral and 107 (15.4%) with bilateral microtia. Inner ear malformations were observed in 14.1% of the ears. The main associated anomalies were hemifacial microsomia (29%), velopharyngeal insufficiency (9%), ophthalmologic (6.2%), vertebral (5.9%), cardiac (5.5%) and kidney (3%) abnormalities. Main identified entities were Goldenhar, Treacher-Collins and Guion-Almeida syndromes.
CONCLUSIONS: A comprehensive clinical assessment must be completed when microtia is diagnosed. Besides screening well-known oculo-auriculo-vertebral spectrum malformations, velopharyngeal insufficiency should be systematically sought. Specialized care must be provided to the very frequently associated hemifacial macrosomia. Mild forms of this last malformation may correspond to Guion-Almeida syndrome, especially in cases of learning disability.

Vascular malformations (Vascular Malformation) of soft tissue are a consequence of abnormal development of vascular elements during embryogenesis. They are named after the vessel responsible. Their presence at birth raises the hypothesis of an intrauterine etiology of Vascular Malformation, but the influence of other factors may play an important role in their appearance, localization, and size. The literature suggests that treatment of Vascular Malformation is rarely surgical. Surgery is applied in cases of voluminous malformations and in cases of possible hemorrhagic complications. Meanwhile, patient outcomes have improved with new discoveries in laser technology for the treatment of Vascular Malformation, especially those of capillaries and the results are, in most of the cases, quite satisfactory and without significant complications. After institutional review board approval, we collected and analyzed the medical records of 90 patients diagnosed with Vascular Malformation, between January 2015 and December 2019 at the service of Burns and Plastic Surgery, \"Mother Teresa\" University Hospital Center of Tirana, Albania and from another private clinic in Tirana. Data were collected from the medical records on patient\'s charts. The aim of this study is to analyze different treatment modalities and the outcomes achieved for each group.

There are noted birth defects prevalence differences between race/ethnicity groups. For instance, non-Hispanic (NH) Black mothers are more likely to have an infant with encephalocele, although less likely to have an infant with anotia/microtia compared to NH Whites. When stratifying by nativity and years lived within the United States, additional variations become apparent.
Data from the National Birth Defects Prevention Study were used to calculate descriptive statistics and estimate crude/adjusted odds ratios (aORs) and 95% confidence intervals (95%CIs) among NH Blacks with one of 30 major defects and non-malformed controls. Total case/controls were as follows: U.S.- (2,773/1101); Foreign- (343/151); African-born (161/64). Study participants were also examined by number of years lived in the U.S. (≤5 vs. 6+ years).
Compared to U.S.-born, foreign-born NH Black controls tended to be older, had more years of education, and were more likely to have a higher household income. They also had fewer previous livebirths and were less likely to be obese. In the adjusted analyses, two defect groups were significantly attenuated: limb deficiencies, aORs/95%CIs = (0.44 [0.20-0.97]) and septal defects (0.69 [0.48-0.99]). After stratifying by years lived in the United States, the risk for hydrocephaly (2.43 [1.03-5.74]) became apparent among those having lived 6+ years in the United States. When restricting to African-born mothers, none of the findings were statistically significant.
Foreign-born NH Blacks were at a reduced risk for a few selected defects. Results were consistent after restricting to African-born mothers and did not change considerably when stratifying by years lived in the United States.

BACKGROUND: Data on pregnancy outcomes in women with psoriasis are conflicting.
OBJECTIVE: We examined whether maternal psoriasis affects the risk of adverse maternal and pregnancy outcomes.
METHODS: We used population-based data to compare reproductive patterns in women with and without psoriasis. Odds ratios (ORs) with 95% confidence intervals (CIs) for adverse outcomes were estimated with adjustments for maternal age, period of childbirth, smoking, and prepregnancy body mass index.
RESULTS: Compared with women without psoriasis, women with psoriasis were younger at first birth and had longer interpregnancy intervals but did not differ in final parity. Risk estimates in women with psoriasis were elevated for pregnancy hypertension (OR, 1.37; 95% CI, 1.19-1.58), premature rupture of membranes (OR, 1.15; 95% CI, 1.04-1.27), large for gestational age (OR, 1.11; 95% CI, 1.01-1.21), cleft palate (OR, 1.69; 95% CI, 1.07-2.66), and unspecified malformations (OR, 1.08; 95% CI, 1.01-1.16).
CONCLUSIONS: No information was available on lifestyle, disease severity, or type and duration of treatment. Small numbers hampered the assessment of rare outcomes.
CONCLUSIONS: Although there was no evidence that fertility is negatively affected, women with psoriasis were at an increased risk of several adverse maternal and pregnancy outcomes. Our findings add to a growing body of evidence that pregnancies in women with psoriasis need special monitoring.

An increased number of congenital Zika virus infections with neurological and musculoskeletal malformations have been diagnosed worldwide, however, there are still several gaps in the knowledge about this infection, its associated mechanism, timing of transmission, and description of throughout findings of signs and symptoms, which is described in this paper. The purpose of this study is to describe aspects of congenital Zika syndrome (CZS) beyond the central nervous system comprising detailed delineation of all the other clinical findings.
A retrospective research developed using electronic medical records. We analyzed the files of 69 children with an initial diagnosis of microcephaly by Zika vírus who were born in 2015, 2016 and 2017, treated during the period from 2016 to 2017.
The newborns presented several neurological and musculoskeletal malformations, eye damage, hearing impairment and other malformations.
The present study has significant impact for health care teams following lactents with Congenital Zika Syndrome.

Chlordecone is an organochlorine pesticide that was extensively used to control the banana root borer population in the French West Indies until 1993. Its persistence in soil has led to widespread pollution of the environment, and human beings, including pregnant women, are still exposed to this chemical. High levels of exposure to chlordecone during gestation have been shown to cause congenital anomalies, including undescended testes in rodents. We assessed the associations between chlordecone concentrations in maternal and cord plasma and the risk of congenital anomalies in the Timoun Mother-Child Cohort Study (2004-2007) that included 1068 pregnant women in Guadeloupe. Odds ratios were estimated using unconditional logistic regression analysis, controlling for confounding factors. The median plasma concentrations in maternal and cord plasma were 0.39 μg/L and 0.20 μg/L, respectively. Thirty-six children were diagnosed with malformations according to the European Registration of Congenital Anomalies guidelines and 25 with undescended testes. There was no association between maternal or cord plasma concentration of chlordecone and the risk of overall malformations nor undescended testes. These results suggest that prenatal exposure to the currently observed environmental levels of chlordecone in French West Indies does not increase the risk of birth defects.