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Vein of Galen malformations (VOGMs), also known as Vein of Galen Aneurysmal Malformations (VGAMs), are rare and complex cerebrovascular anomalies that pose significant diagnostic and therapeutic challenges. These malformations result from abnormal arteriovenous shunts during embryonic development, leading to a range of severe clinical manifestations, including high-output cardiac failure and hydrocephalus. Advances in prenatal imaging, particularly fetal MRI, have improved early detection, allowing for timely intervention. Endovascular techniques, especially transarterial embolization, have become the primary treatment modality, often preferred over surgical approaches due to their effectiveness and lower risk. However, challenges remain, particularly in managing these malformations in neonates and infants, where the risk of complications is high. Gamma Knife radiosurgery offers a non-invasive alternative for select cases, though its effects are gradual and may carry delayed risks. Despite advancements, the management of VOGMs continues to require a multidisciplinary approach, with ongoing research focused on improving outcomes through a better understanding of the genetic and molecular underpinnings of the disease. Future directions include the integration of genetic studies into clinical practice and the refinement of treatment strategies to optimize outcomes for this complex condition. [ABSTRACT FROM AUTHOR]

Introduction: Microcephaly, characterized by abnormal head growth, can often serve as an initial indicator of congenital, genetic, or acquired disorders. In this study, we sought to evaluate the effectiveness of chromosomal microarray (CMA) testing in detecting abnormalities in both prenatal and postnatal cases of microcephaly. Materials and methods: CMA Testing: We conducted CMA testing on 87 prenatally-detected microcephaly cases and 742 postnatal cases at a single laboratory. We evaluated the CMA yield in relation to specific clinical characteristics. Results: In prenatal cases, pathogenic and likely pathogenic (LP) results were identified in 4.6% of cases, a significantly higher rate compared to low-risk pregnancies. The male-to-female ratio in this cohort was 3, and the CMA yield was not influenced by gender or other clinical parameters. For postnatal cases, the CMA yield was 15.0%, with a significantly higher detection rate associated with dysmorphism, hypotonia, epilepsy, congenital heart malformations (CHM), learning disabilities (LD), and a history of Fetal growth restriction (FGR). No specific recurrent copy number variations (CNVs) were observed, and the rate of variants of unknown significance was 3.9%. Conclusions: The yield of CMA testing in prenatal microcephaly is lower than in postnatal cases (4.6% vs. 15%). The presence of microcephaly, combined with dysmorphism, hypotonia, epilepsy, CHD, LD, and FGR, significantly increases the likelihood of an abnormal CMA result. [ABSTRACT FROM AUTHOR]

Polycyclic aromatic hydrocarbons (PAHs) are ubiquitous contaminants generally found in complex mixtures. PAHs are known to cause pleiotropic effects on living organisms, including developmental defects, mutagenicity, carcinogenicity and immunotoxicity, and endocrine disruptions. The main goal of this study is to evaluate the toxicity of water-accommodated fractions (WAFs) of oils in two life stages of the Japanese medaka, larvae and juveniles. The deleterious effects of an acute exposure of 48 h to two WAFs from Arabian light crude oil (LO) and refined oil from Erika (HO) were analyzed in both stages. Relevant endpoints, including ethoxy resorufin-O-deethylase (EROD) activity, DNA damage (Comet assay), photomotor response, and sensitivity to nervous necrosis virus (NNV) infection, were investigated. Larvae exposed to both oil WAFs displayed a significant induction of EROD activity, DNA damage, and developmental anomalies, but no behavioral changes. Deleterious effects were significantly increased following exposure to 1 and 10 μg/L of LO WAFs and 10 μg/L of HO WAFs. Larval infection to NNV induced fish mortality and sharply reduced reaction to light stimulation. Co-exposure to WAFs and NNV increased the mortality rate, suggesting an impact of WAFs on fish defense capacities. WAF toxicity on juveniles was only observed following the NNV challenge, with a higher sensitivity to HO WAFs than to LO WAFs. This study highlighted that environmentally realistic exposure to oil WAFs containing different compositions and concentrations of oil generated high adverse effects, especially in the larval stage. This kind of multi-marker approach is particularly relevant to characterize the toxicity fingerprint of environmental mixtures of hydrocarbons and PAHs. [ABSTRACT FROM AUTHOR]

Congenital anomalies of the kidney and urinary tract (CAKUT) significantly contribute to pediatric morbidity, often necessitating ureterorenal surgery. This study explored the relationship between genetic mutations, renal surgery requirements, and prenatal, postnatal, and parental risk factors in children with CAKUT. A retrospective analysis of 651 children diagnosed with CAKUT included patient demographics, parental risk factors, ultrasound findings, genetic mutations, and surgical incidence. Antenatal ultrasounds showed normal findings in 32.1%, hydronephrosis in 46.9%, and other abnormalities in 21% of cases. Surgical intervention correlated with higher hydronephrosis reduction than non-intervention. Genetic mutations were identified in 5.4% of cases, with 24.6% requiring surgery. Low neonatal birth weight (odds ratio [OR] = 0.98, p < 0.001), advanced maternal age (OR = 1.06, p < 0.001), and postnatal abnormal ultrasound findings (OR = 2.62, p < 0.001) were associated with increased genetic mutation risks. Antenatal hydronephrosis (OR = 3.85, p < 0.001) and postnatal urinary tract infections (OR = 4.85, p < 0.001) increased the likelihood of surgical intervention. Neonatal birth weight, maternal age, and postnatal ultrasound findings were identified as independent risk factors for genetic mutations, while no significant link was found between these genetic factors and the need for surgery. Surgical needs were associated with urinary tract infections and antenatal hydronephrosis, indicating that timely surgical intervention may benefit these patients. [ABSTRACT FROM AUTHOR]

The effects of stress during early vertebrate development can be especially harmful. Avoiding stressors in fish larvae is essential to ensure the health of adult fish and their reproductive performance and overall production. We examined the consequences of direct exposure to successive acute stressors during early development, including their effects on miR-29a and its targets, survival, hatching and malformation rates, larval behaviour and cartilage and eye development. Our aim was to shed light on the pleiotropic effects of early-induced stress in this vertebrate model species. Our results showed that direct exposure to successive acute stressors during early development significantly upregulated miR-29a and downregulated essential collagen transcripts col2a1a, col6a2 and col11a1a, decreased survival and increased malformation rates (swim bladder, otoliths, cardiac oedema and ocular malformations), promoting higher rates of immobility in larvae. Our results revealed that stress in early stages can induce different eye tissular architecture and cranioencephalic cartilage development alterations. Our research contributes to the understanding of the impact of stressful conditions during the early stages of zebrafish development, serving as a valuable model for vertebrate research. This holds paramount significance in the fields of developmental biology and aquaculture and also highlights miR-29a as a potential molecular marker for assessing novel larval rearing programmes in teleost species. [ABSTRACT FROM AUTHOR]

The results of the effect of five different incubation temperatures on the development of clownfish (Amphiprion ocellaris) larvae are presented. This ornamental species is widely marketed worldwide and is reared in captivity at CIAD to meet the demand in the domestic market. The experimental work was carried out over 30 days post-hatching to observe the temperature's effect on the development of the larvae's vertebral column and caudal complex. The eggs were incubated at 26, 28, 30, 32, and 34°C. The percentage of hatching, survival, growth, and the presence of skeletal malformations were evaluated. Hatching and survival percentages did not show significant differences between treatments. Regarding growth, there were significant differences between treatments, with organisms showing slower growth at 26°C and larger sizes at 34°C. The highest percentage of malformations occurred in larvae cultured at 34°C, with lordosis being the most frequently observed deformity among the treatments. Therefore, it can be concluded that the optimal temperature range for cultivating and harvesting quality A. ocellaris organisms is between 28 and 30°C. [ABSTRACT FROM AUTHOR]

Simple Summary: Congenital defects have been described in almost every vertebrate group. In crocodiles, teratology alterations have been described in captive animals (pets, zoos, farms) such as Crocodylus niloticus and Gavialis gangeticus. The present study aimed to characterize congenital malformations of C. acutus from a farm in Lomas de Matunilla, Ballestas, Bolívar, Colombia. The analyzed eggs presented macroscopic malformations, with 42 different types of anomalies observed. Limb and tail malformations (29%) were the most common changes observed. The American crocodile (Crocodylus acutus, Cuvier, 1807) (Class Reptilia, Family Crocodylidae) is a crocodile species inhabiting the Neotropics. Congenital defects have been described in almost every vertebrate group. In crocodiles, teratology alterations have been described in captive animals (pets, zoos, farms) such as Crocodylus niloticus or Gavialis gangeticus. The present study aimed to characterize congenital malformations of C. acutus from a farm in Lomas de Matunilla, Ballestas, Bolívar, Colombia. A total of 550 unhatched eggs were examined after embryo death. A total of 61 embryos presented malformations, with 42 different types of anomalies observed. Limb and tail malformations (29%) were the most common malformations observed. Several malformations, such as cephalothoracopagus, thoracopagus, sternopagus, xiphopagus twins, campylorrachis scoliosa, and acrania, were documented in crocodiles for the first time. Research in teratology enhances our understanding of crocodile biology. It plays a role in their conservation and management, thus helping to ensure the long-term viability of these species in their natural habitats. [ABSTRACT FROM AUTHOR]

Background: Contemporary understanding of the pattern of congenital anomalies is both important in its clinical management as well as in improving the overall health of the community. Methodology: All infants presenting from January to December 2102 at the centre were prospectively studied. Results: A total of 5010 infants were screened, of which 108 have congenital anomalies giving a prevalence of 2.2%. Major anomalies were noted in 101 (93.5%) infants. Only two (1.9%) were preterm. Consanguineous relationship was observed in 2 (1.9%) cases. Pre natal Ultrasound scan was done in 33(30.8%), but in only 7 (6.5%) was any anomaly detected Onitsha, a densely populated urban area contributed 45(42%) of the cases. Only 7(6.5%) of the mothers took herbal prescriptions in the first trimester of pregnancy. Risk of anomaly progressively rises, reaching a peak of 48% in the maternal age group of 26-30 years and drops steadily after. Gastrointestinal tract anomalies were most common (no. =28, 25.9%). Residences close to dump sites, telecom masts/base stations, electricity cables, industries and heavy motorised highways contributed to risk factors in 9-12 % of cases. Conclusion: More of younger mothers were affected with gastro intestinal malformations predominating. The location of home environment is a potential risk factor that will require further characterisation.

Purpose. In clinical practice in hospital conditions, the preferred choice of behavior regarding fetal anomalies is to perform a medical abortion after the opinion of a specialized committee in the hospital. There are no observations conducted by other authors on abortions related to termination of pregnancy for medical reasons at a different time. The team conducts its observation in hospital conditions. Material/Methods: Conducted own retrospective study for the period January 2021 – February 2024 with the participation of 45 patients who went through a pregnancy termination committee on medical grounds. All women who passed through the committee for medically indicated abortion, in which fetal anomalies incompatible with life or severely debilitating were found, were examined. Women are at different stages of pregnancy, age, education, number of pregnancies and births, concomitant diseases, a type of test to diagnose abnormalities in the fetus (invasive and non-invasive). The type of abnormality that is the cause of an abortion on medical grounds has also been investigated. The dosage applied is- 1st tablet of 400 mg Misoprostol per vagine, second and third tablets in 3 hours sub buccal, the maximum dose is 5 tablets in 24 hours or 2000 microgram Misoprostol. Results. For 88,9% of the cases, they have a positive opinion of the commission in the hospital structure, and 11,1% have a refusal. Group matching of patients was performed by education and whether they had good outpatient follow-up, regardless of the duration of pregnancy. Patients with higher education had better outpatient follow-up (χ2=15.497, p=0.000) than those with secondary and primary education. There was a significant association between the dosing regimen and pregnancy severity; the relationship between the two-dose regimen was significant (χ2=53.862, p=0.000), and the three-dose regimen was highly successful in 73.3% of cases. Conclusion. The correct choice of method of application of the therapeutic regimen requires preliminary and detailed medical preparation of the patient and good clinical experience of the treating doctor. The applied therapeutic approach reduces the risk to the patient and has a rapid recovery period. Early and timely diagnosis has an important informative value.

Abstract The (re)hemorrhage in patients with sporadic cerebral cavernous malformations (CCM) was the primary aim for CCM management. However, accurately identifying the potential (re)hemorrhage among sporadic CCM patients in advance remains a challenge. This study aims to develop machine learning models to detect potential (re)hemorrhage in sporadic CCM patients. This study was based on a dataset of 731 sporadic CCM patients in open data platform Dryad. Sporadic CCM patients were followed up 5 years from January 2003 to December 2018. Support vector machine (SVM), stacked generalization, and extreme gradient boosting (XGBoost) were used to construct models. The performance of models was evaluated by area under receiver operating characteristic curves (AUROC), area under the precision-recall curve (PR-AUC) and other metrics. A total of 517 patients with sporadic CCM were included (330 female [63.8%], mean [SD] age at diagnosis, 42.1 [15.5] years). 76 (re)hemorrhage (14.7%) occurred during follow-up. Among 3 machine learning models, XGBoost model yielded the highest mean (SD) AUROC (0.87 [0.06]) in cross-validation. The top 4 features of XGBoost model were ranked with SHAP (SHapley Additive exPlanations). All-Elements XGBoost model achieved an AUROCs of 0.84 and PR-AUC of 0.49 in testing set, with a sensitivity of 0.86 and a specificity of 0.76. Importantly, 4-Elements XGBoost model developed using top 4 features got a AUROCs of 0.83 and PR-AUC of 0.40, a sensitivity of 0.79, and a specificity of 0.72 in testing set. Two machine learning-based models achieved accurate performance in identifying potential (re)hemorrhages within 5 years in sporadic CCM patients. These models may provide insights for clinical decision-making.

The benzophenone (BP) family, including oxybenzone (BP-3), a prevalent sunscreen ingredient and environmental contaminant, has raised concerns since the year 2005. This study investigated oxybenzone toxicity in zebrafish (Danio rerio) eleutheroembryos and brine shrimp (Artemia salina) nauplii, focusing on the LC50 and developmental impacts. Zebrafish embryos (0.100–1.50 mg/L BP-3, 96 h) and A. salina (0.100–5.00 mg/L BP-3, 48 h) were tested with ultrasound-assisted emulsified liquid-phase microextraction (UA-ELPME) used for zebrafish tissue analysis. HPLC-DAD determined BP-3 concentrations (highest: 0.74 ± 0.13 mg/L). Although no significant zebrafish embryo mortality or hatching changes occurred, developmental effects were evident. Lethal concentrations were determined (A. salina LC50 at 24 h = 3.19 ± 2.02 mg/L; D. rerio embryos LC50 at 24 h = 4.19 ± 3.60 mg/L), with malformations indicating potential teratogenic effects. A. salina displayed intestinal tract alterations and D. rerio embryos exhibited pericardial edema and spinal deformities. These findings highlight oxybenzone's environmental risks, posing threats to species and ecosystem health. [ABSTRACT FROM AUTHOR]

Background: The prevalence of Müllerian anomalies (MA) among patients with congenital solitary functioning kidney (SFK) is not well defined. A delay in diagnosis of obstructive MA can increase the risk of poor clinical outcomes. This study describes the prevalence of MA in patients with congenital SFK. Methods: A retrospective review was performed of patients within the Nationwide Children's Hospital system with ICD9 or ICD10 diagnostic codes for congenital SFK defined as either unilateral renal agenesis (URA) or multicystic dysplastic kidney (MCDK) and confirmed by chart review. Patients with complex urogenital pathology were excluded. Renal anomaly, MA, reason for and type of pelvic evaluation, and age of diagnosis of anomalies were evaluated. Results: Congenital SFK occurred in 431 girls due to URA (209) or MCDK (222). Pelvic evaluation, most commonly by ultrasound for evaluation of abdominal pain or dysmenorrhea, occurred in 115 patients leading to MA diagnosis in 60 instances. Among 221 patients ages 10 years and older, 104 underwent pelvic evaluation and 52 were diagnosed with an MA of which 20 were obstructive. Isolated uterine or combined uterine and vaginal anomalies were the most common MA. MA were five-fold more common in patients with URA compared to MCDK. In 75% of patients, the SFK was diagnosed prior to the MA. Conclusions: The prevalence of MA in patients with congenital SFK was 24% among those age 10 years or older, and 38% were obstructive. This justifies routine screening pelvic ultrasound in girls with congenital SFK to improve early diagnosis. [ABSTRACT FROM AUTHOR]

Fish of the genus Hypselobarbus (Bleeker 1860) are widely dispersed in the rivers of the Western Ghats in India and endemic to southern Indian peninsular freshwaters. These are small- to medium-sized fishes of the family Cyprinidae. Although fish with deformed bodies or body parts are rare in natural waters, this article deals with four abnormal specimens of Hypselobarbus curmuca (Hamilton 1807) collected from the rivers Tunga, Bhadra, and Kali during 2022. The abnormalities observed in four different individuals are pughead deformity, pelvic fin deformity, pectoral fin deformity, and enlarged scales. The morphological comparison of normal individuals of Hypselobarbus curmuca (Hamilton 1807) with abnormal specimens revealed variation. Using the MT-COI gene, species identity was confirmed and the mean genetic divergence between the normal and abnormal specimens was estimated to be less than 1%. [ABSTRACT FROM AUTHOR]

Zebrafish being the best animal model to study, every attempt has been made to decipher the toxic mechanism of every fungicide of usage and interest. It is important to understand the multiple targets of a toxicant to estimate the toxic potential in its totality. A total of 22 fungicides of different classes like amisulbrom, azoxystrobin, carbendazim, carboxin, chlorothalonil, difenoconazole, etridiazole, flusilazole, fluxapyroxad, hexaconazole, kresoxim methyl, mancozeb, myclobutanil, prochloraz, propiconazole, propineb, pyraclostrobin, tebuconazole, thiophanate-methyl, thiram, trifloxystrobin and ziram were reviewed and analyzed for their multiple explored targets in zebrafish. Toxic end points in zebrafish are highly informative when it comes to network analysis. They provide a window into the molecular and cellular pathways that are affected by a certain toxin. This can then be used to gain insights into the underlying mechanisms of toxicity and to draw conclusions on the potential of a particular compound to induce toxicity. This knowledge can then be used to inform decisions about drug development, environmental regulation, and other areas of research. In addition, the use of zebrafish toxic end points can also be used to better understand the effects of environmental pollutants on ecosystems. By understanding the pathways affected by a given toxin, researchers can determine how pollutants may interact with the environment and how this could lead to health or environmental impacts. [ABSTRACT FROM AUTHOR]

In recent decades, there has been a significant increase in reported anomalies among amphibians worldwide, especially malformations. These anomalies not only signify a decline in the quality of their habitats but also hold special significance among anuran species as vital indicators of ecosystem health. Our study presents ten previously undocumented cases of anomalies within eight anuran species found in Honduras and Colombia. These species include Ameerega bilinguis, A. hahneli and A. ingeri (Dendrobatidae), Craugastor sp. (Craugastoridae), Engystomops pustulosus (Leptodactylidae), Incilius valliceps (Bufonidae), Lithobates maculatus (Ranidae), and Smilisca baudinii (Hylidae). The observed anomalies encompass a range of abnormalities, including a protuberant tumor (1), adactyly (1), amely (2), anophthalmy (1), brachydactyly (1), ectrodactyly (1), ectromely (5), and phocomely (1), which affect the mobility and vision of these individuals. While the root causes may differ, we suspect that pollution stemming from agricultural and urban activities in the observed areas could be a contributing factor. However, we do not dismiss the possibility of other physicochemical or biological stressors. [ABSTRACT FROM AUTHOR]

The (re)hemorrhage in patients with sporadic cerebral cavernous malformations (CCM) was the primary aim for CCM management. However, accurately identifying the potential (re)hemorrhage among sporadic CCM patients in advance remains a challenge. This study aims to develop machine learning models to detect potential (re)hemorrhage in sporadic CCM patients. This study was based on a dataset of 731 sporadic CCM patients in open data platform Dryad. Sporadic CCM patients were followed up 5 years from January 2003 to December 2018. Support vector machine (SVM), stacked generalization, and extreme gradient boosting (XGBoost) were used to construct models. The performance of models was evaluated by area under receiver operating characteristic curves (AUROC), area under the precision-recall curve (PR-AUC) and other metrics. A total of 517 patients with sporadic CCM were included (330 female [63.8%], mean [SD] age at diagnosis, 42.1 [15.5] years). 76 (re)hemorrhage (14.7%) occurred during follow-up. Among 3 machine learning models, XGBoost model yielded the highest mean (SD) AUROC (0.87 [0.06]) in cross-validation. The top 4 features of XGBoost model were ranked with SHAP (SHapley Additive exPlanations). All-Elements XGBoost model achieved an AUROCs of 0.84 and PR-AUC of 0.49 in testing set, with a sensitivity of 0.86 and a specificity of 0.76. Importantly, 4-Elements XGBoost model developed using top 4 features got a AUROCs of 0.83 and PR-AUC of 0.40, a sensitivity of 0.79, and a specificity of 0.72 in testing set. Two machine learning-based models achieved accurate performance in identifying potential (re)hemorrhages within 5 years in sporadic CCM patients. These models may provide insights for clinical decision-making. [ABSTRACT FROM AUTHOR]

The amount of Sargassum spp. arriving in the Caribbean Sea has increased steadily in the last few years, producing a profound environmental impact on the ecological dynamics of the coasts of the Yucatan Peninsula. We characterized the toxicological effects of an ethanolic extract of Sargassum spp. on zebrafish (Danio rerio) embryos (ZFEs) in a 96‐h static bioassay using T1 (0.01 mg/L), T2 (0.1 mg/L), T3 (1 mg/L), T4 (10 mg/L), T5 (25 mg/L), T6 (50 mg/L), T7 (75 mg/L), T8 (100 mg/L), T9 (200 mg/L), and T10 (400 mg/L). In this extract, we detected 74 compounds by gas chromatography‐mass spectrometry (GC‐MS), of which hexadecanoic acid methyl ester, and 2‐pentanone 4‐hydroxy‐4‐methyl, were the most abundant. In ZFEs, a median lethal concentration of 251 mg/L was estimated. Exposed embryos exhibited extensive morphological changes, including edema in the yolk sac, scoliosis, and loss of pigmentation, as well as malformations of the head, tail, and eyes. By integrating these abnormalities using the Integrated Biological Response (IBRv2) and General Morphological Score (GMS) indices, we were able to determine that ZFEs exposed to 200 mg/L (T9) exhibited the most pronounced biological response in comparison with the other groups. In the comparative transcriptomic analysis, 66 genes were upregulated, and 246 genes were downregulated in the group exposed to 200 mg/L compared with the control group. In the upregulated genes, we identified several gene ontology‐enriched terms, such as response to xenobiotic stimuli, cellular response to chemical stimulus, transcriptional regulation, pigment metabolic process, erythrocyte differentiation and embryonic hemopoiesis, extracellular matrix organization, and chondrocyte differentiation involved in endochondral bone morphogenesis, among others. In the down‐regulated genes, we found many genes associated with nervous system processes, sensory and visual perception, response to abiotic stimulus, and the nucleoside phosphate biosynthetic process. The probable connections among the morphological changes observed in the transcriptome are thoroughly discussed. Our findings suggest that Sargassum spp. exposure can induce a wide negative impact on zebrafish embryos. Environ Toxicol Chem 2024;43:1075–1089. © 2024 The Authors. Environmental Toxicology and Chemistry published by Wiley Periodicals LLC on behalf of SETAC. [ABSTRACT FROM AUTHOR]

Gastrointestinal tract and internal abdominal wall malformations are infrequent malformations. Their global incidence is estimated to be below three to six cases in every 1,000 newborns, although it is probably higher, since many of them are part of very severe multiple malformations syndromes, with a high incidence of intrauterine death even in early stages of pregnancy. They are often associated with polyhydramnios, which is in 10% associated with upper digestive atresias, and in another 10% with lower digestive atresias. Colon atresia is responsible of 5-10% of all the intestinal atresias with most frequent anal atresia occurring in around 1 in every 5,000 live births. Many other fetal intestinal disorders have been described by ultrasound including small intestine or anorectal atresia, Hirschsprung's disease, megacolon with anourethral atresia, and distended and descended colon, which is associated with Johanson-Blizzard syndrome. It is important to diagnose possible malformations in other organs and systems that may be related to these defects and therefore, will determine the neonatal prognosis. These anomalies are diagnosed by two-dimensional (2D) ultrasound assessment, many of them even in the first trimester, but three-dimensional (3D) and four-dimensional (4D) ultrasound is a remarkable advance in a better definition of the defect. [ABSTRACT FROM AUTHOR]

Background: Regarding treatment of women of childbearing potential with epilepsy, several aspects of family planning and desire to have children have to be taken into account. Objective: Overview of current data on mutual implications of epileptic seizures, antiseizure medication (ASM), pregnancy and child development. Method: Review of the current literature, discussion and presentation of resulting treatment recommendations. Results: Many ASMs bear the potential for clinically relevant interactions with both contraceptives and altered concentrations of sexual hormones and modified pharmacokinetics during pregnancy. All ASMs show an increased risk for congenital malformations; however, due to seizure-related risks for the mother and child effective ASM treatment during pregnancy is crucial. Conclusion: When considering the special aspects of consultation and treatment of women of childbearing potential with epilepsy most pregnancies are uncomplicated. [ABSTRACT FROM AUTHOR]

Development of the central nervous system is a time-ordered and multistepped process that begins in the third week of development and continues after birth. Understanding of its normal embryologic development is fundamental to understand how specific malformations develop. This article provides a summary of human brain development and serves as a base to introduce the various malformations presented in this issue. [ABSTRACT FROM AUTHOR]

Abstract This study aims to evaluate the phytochemical properties of Bauhinia holophylla (Bong.) Steud leaf extract, and their impact on maternal reproductive and fetal development in diabetic rats. For this, adult female Wistar rats (100 days of life) received streptozotocin (40 mg/Kg, intraperitoneal) for induction of diabetes, were mated and distributed into four groups: Nondiabetic; Nondiabetic given B. holophylla; Diabetic; and Diabetic given B. holophylla. The plant extract was given by gavage at increasing doses: 200, 400, and 800 mg/Kg. At day 21 of pregnancy, liver and blood samples were obtained for oxidative parameters and biochemical analysis, respectively. The uterus was removed for maternal-fetal outcomes. Phytochemical analysis showed a high content of phenolic components and biogenic amines. B. holophylla extract did not alter the glycemic levels but improved the lipid profile in diabetic animals. Besides that, the number of live fetuses and maternal weight gain were decreased in Diabetic group, and were not observed in animals treated. The group Diabetic treated presented a higher percentage of fetuses classified as adequate for gestational age compared to the Diabetic group. However, the treatment with plant extract caused embryo losses, fetal growth restriction, and teratogenicity in nondiabetic rats. Thus, the indiscriminate consumption requires carefulness.

Introduction: Malformation of the central nervous system (CNS) typically leaves the family in chaos and medical team helpless. The strict use of preventative measures has significantly decreased the frequency of congenital abnormalities in industrialized nations. Materials & Methods: At Dera Ghazi Khan Medical College conducted this Cross-sectional analytical study was conducted from January 2023 to December 2023 to evaluate the epidemiological profile and management CNS malformations. All cases of CNS malformations treated in the neurosurgery department were included in the study. The data were analyzed using SPSS version 25.0. Results: Total 61 cases were included in the study. The patient’s age ranged from 1 d to 70 years old. Six (9.8%) patients with CNS abnormalities had prenatal diagnoses. There were 34.8% CT scans, 1.7% MRIs (7 after CT), and 23.7% ultrasound scans, among other tests. In 49 instances (80.32%), there was a surgical rationale: 20 cases (40.81%) could be treated, whereas 29 cases (59.18%) did not. In 11 cases (18%), the surgical rationale was not maintained. Conclusion: CNS abnormalities were frequent in our study. They cause numerous neurological aftereffects and permanent impairments, and are not usually amenable to surgical treatment. Therefore, it is imperative that the DG Khan region concentrates on enhancing preventative measures.

Aflatoxin B1 (AFB1) is a subsidiary poisonous metabolite, archetypally spawned by Aspergillus flavus and A. parasiticus, which are often isolated in warm or tropical countries across the world. AFB1 is capable of disrupting the functioning of several reproductive endocrine glands by interrupting the enzymes and their substrates that are liable for the synthesis of various hormones in both males and females. In men, AFB1 is capable of hindering testicular development, testicular degeneration, and reduces reproductive capabilities. In women, a direct antagonistic interaction of AFB1 with steroid hormone receptors influencing gonadal hormone production of estrogen and progesterone was responsible for AFB1-associated infertility. AFB1 is potentially teratogenic and is responsible for the development of malformation in humans and animals. Soft-tissue anomalies such as internal hydrocephalus, microphthalmia, cardiac defects, augmented liver lobes, reproductive changes, immune modifications, behavioral changes and predisposition of animals and humans to neoplasm development are AFB1-associated anomalies. Substances such as esculin, selenium, gynandra extract, vitamins C and E, oltipraz, and CDDO-Im are potential therapies for AFB1. Thus, this review elucidates the pivotal pathogenic roles of AFB1 in infertility, fetal deformities, and potential therapies because AFB1 toxicity is a key problem globally.

Aim of the study. To evaluate the safety of lacosamide (LCM) monotherapy during pregnancy and breastfeeding. Material and methods. Patients taking LCM monotherapy treated at the university epilepsy clinic were prospectively followed up during pregnancy, delivery, and breastfeeding. Data on seizure frequency, LCM dosage, pregnancy course, delivery and breastfeeding, birth outcome, congenital malformation, and development of newborns was collected. Material and methods. Patients taking LCM monotherapy treated at the university epilepsy clinic were prospectively followed up during pregnancy, delivery, and breastfeeding. Data on seizure frequency, LCM dosage, pregnancy course, delivery and breastfeeding, birth outcome, congenital malformation, and development of newborns was collected. Conclusions and clinical implications. This case series adds to a growing body of evidence suggesting the relative safety of LCM monotherapy throughout pregnancy and breastfeeding. [ABSTRACT FROM AUTHOR]

Objectives: This retrospective study aimed to assess disparities between prenatal ultrasound and autopsy findings in pregnancies that resulted in fetal loss, and to evaluate the diagnostic performance of prenatal ultrasound using postmortem examinations as a gold standard. Methods: Our study included 136 autopsy cases following a fetal loss that occurred at our tertiary medical center for 8 years. A comparison between the prenatal ultrasound and autopsy findings was made, and all cases were classified according to the degree of agreement. The diagnostic performance of prenatal ultrasound was calculated at the level of organ system and specific malformations. Results: The primary sonographic diagnosis was confirmed in 91.9% of the cases (n = 125). General agreement was highest among central nervous system (CNS), cardiovascular and musculoskeletal systems (85.7%, n = 36, 18, and 12, respectively) and lowest among facial, multiple anomalies, genitourinary and gastrointestinal systems (50.0%, 74.3%, 78.6%, and 80.0%, n = 2, 26, 11, and 4, respectively). The sensitivity of ultrasound was highest in the CNS (93.2%) and musculoskeletal (87.0%) and lowest in the facial (32.3%) and pulmonary (13.0%) systems. Specifically, low diagnostic rates were noted in detecting ventriculomegaly, valvular anomalies, renal dysplasia, spleen and adrenal anomalies, and digital and facial defects. Conclusions: Our study observed an overall high agreement between prenatal ultrasound and autopsy while contributing to our comprehensive understanding of its strengths and limitations across various types of organ systems and specific malformations. [ABSTRACT FROM AUTHOR]

Strategies to improve the hatch success and survival of critically endangered hawksbill turtles (Eretmochelys imbricata) require knowledge of threats to them including pathological conditions. The objective of this study was to describe the mortality and pathology of embryos and dead-in-nest hatchlings on St. Kitts and Nevis. Over the 2019/20 and 2020/21 nesting seasons, the combined mean (SD) hatch success for the two islands was 81.9% (13.2%) and deceased individuals within excavated nests were early-stage embryos (70.7%), late-stage embryos (17.7%), pipped-hatchlings (8.2%) or dead-in-nest hatchlings (3.4%). From 2017 to 2021, a post-mortem examination was performed on 183 turtles, including histology for 116. Anatomical malformations affected 77 (42.1%) examined turtles and included abnormal scute shape or number (22.4%), dysmelia (8.7%), schistosomus reflexus (7.7%) and compressed carapace (7.7%). Microscopic lesions were found in 49.1% of turtles and included tissue mineralization (26.7%, including renal, fetal membrane, liver, heart or muscle), chorioallantoitis (16.2%) and skeletal muscle degeneration and necrosis (10%). Inflammatory lesions associated with fungal or bacterial infections were in the skin (n = 3), chorioallantois (n = 4), lung (n = 3) or yolk sac (n = 1). These lesions may reflect non-specific terminal conditions but their presence in-nest helps explain some of the mortality and pathology documented in hatchlings that die during rehabilitative care. All of the gonads adequately represented for histological determination of sex were female (n = 62), supporting concern for feminization of Caribbean hawksbill turtle nests. The study identifies lesions that could affect hatch and emergence success. The high frequency of skeletal malformations indicates the need for investigations addressing regional impact and pathogenesis, especially genetic and environmental aetiologies including nest temperature. Immediate examination of live hatchlings on nest emergence is warranted to better determine the prevalence of non-fatal malformations that could impact fitness and population genetics. [ABSTRACT FROM AUTHOR]

The olfactory system is unique as a special sensory system in its developmental neuroanatomy and function. Neonatal olfactory reflexes can be detected in the fetus from 30 weeks gestation and can be tested in term and preterm neonates and older children. Most efferent axons from the olfactory bulb terminate in the anterior olfactory nucleus within the olfactory tract, with secondary projections to the amygdala, hypothalamus, hippocampus, and entorhinal cortex (parahippocampal gyrus), with tertiary projections also to the insula and other cortical regions. The olfactory bulb and tract incorporate an intrinsic thalamic equivalent. The olfactory bulb may be primary in generating olfactory auras in some cases of temporal lobe epilepsy. Developmental malformations may involve the olfactory bulb and tract, isolated or as part of complex cerebral malformations and genetic syndromes. Primary neural tumors may arise in the olfactory bulb or nerve. Impaired olfaction occurs in neonatal hypoxic/ischemic and some metabolic encephalopathies. Loss of sense of smell are early symptoms in some neurodegenerative diseases and in some viral respiratory diseases including coronavirus disease 2019. Testing cranial nerve I is easy and reliable at all ages, and is recommended in selected neonates with suspected brain malformations or encephalopathy. [ABSTRACT FROM AUTHOR]

The aim of this study was to assess the frequency of spicule malformations in freshwater sponges in relation to selected environmental parameters of the streams and the presence of river pollutants. A total of 50 sponge samples were collected from ten rivers in Serbia. Selected parameters of the water varied considerably at every site where sponges were found. After spicule preparation, the samples were subjected to morphological analysis by light and scanning electron microscopy, and the number of anomalies were recorded (spicules with bulbous enlargements, sharply bent, bifurcated, scissor- and cross-like, and t-shaped). The frequencies and types of malformations within the analyzed specimens varied from 1 to 100 per 1000 spicules, with an average number of 12 per 1000. The main types of anomalies were single- and double-bent spicules. The highest number of anomalies was found in a specimen of Eunapius fragilis collected at Markovac (Velika Morava River), and the lowest number was found in a specimen of Ephydatia fluviatilis from Kanjiža (Tisa River). The sites with the lowest and the highest numbers of anomalies showed statistically significant differences in concentrations of ammonia, orthophosphates, sodium, chloride, manganese, and lead. This study indicates that several pollutants potentially affect the occurrence of spicule anomalies. [ABSTRACT FROM AUTHOR]

Aflatoxin B1 (AFB1) is a subsidiary poisonous metabolite, archetypally spawned by Aspergillus flavus and A. parasiticus, which are often isolated in warm or tropical countries across the world. AFB1 is capable of disrupting the functioning of several reproductive endocrine glands by interrupting the enzymes and their substrates that are liable for the synthesis of various hormones in both males and females. In men, AFB1 is capable of hindering testicular development, testicular degeneration, and reduces reproductive capabilities. In women, a direct antagonistic interaction of AFB1 with steroid hormone receptors influencing gonadal hormone production of estrogen and progesterone was responsible for AFB1-associated infertility. AFB1 is potentially teratogenic and is responsible for the development of malformation in humans and animals. Soft-tissue anomalies such as internal hydrocephalus, microphthalmia, cardiac defects, augmented liver lobes, reproductive changes, immune modifications, behavioral changes and predisposition of animals and humans to neoplasm development are AFB1-associated anomalies. Substances such as esculin, selenium, gynandra extract, vitamins C and E, oltipraz, and CDDO-Im are potential therapies for AFB1. Thus, this review elucidates the pivotal pathogenic roles of AFB1 in infertility, fetal deformities, and potential therapies because AFB1 toxicity is a key problem globally. [ABSTRACT FROM AUTHOR]

We reported 5 patients with unilateral or bilateral tubal discontinuity between the ampulla and fimbria, occasionally detected through laparoscopy combined with hysteroscopy at the Reproductive Hospital Affiliated with Shandong University from 2017 to 2023. Three cases were observed to have this malformation on the left fallopian tube, 1 case on the right side, and 1 case bilaterally. None of these cases were combined with urological malformations. After surgery, there was 1 instance of postoperative delivery, 1 ongoing pregnancy, and 3 not yet conceived. The congenital ampulla and fimbria interruption of the fallopian tube may be independent of other significant deformities of reproductive or renal tracts. However, it can lead to hydrosalpinx and primary or secondary infertility. Surgical management options, such as salpingostomy, salpingectomy, and tubal ligation, have shown the potential to improve pregnancy outcomes.

Congenital anomalies of the kidney and urinary tract (CAKUT) significantly contribute to pediatric morbidity, often necessitating ureterorenal surgery. This study explored the relationship between genetic mutations, renal surgery requirements, and prenatal, postnatal, and parental risk factors in children with CAKUT. A retrospective analysis of 651 children diagnosed with CAKUT included patient demographics, parental risk factors, ultrasound findings, genetic mutations, and surgical incidence. Antenatal ultrasounds showed normal findings in 32.1%, hydronephrosis in 46.9%, and other abnormalities in 21% of cases. Surgical intervention correlated with higher hydronephrosis reduction than non-intervention. Genetic mutations were identified in 5.4% of cases, with 24.6% requiring surgery. Low neonatal birth weight (odds ratio [OR] = 0.98, p < 0.001), advanced maternal age (OR = 1.06, p < 0.001), and postnatal abnormal ultrasound findings (OR = 2.62, p < 0.001) were associated with increased genetic mutation risks. Antenatal hydronephrosis (OR = 3.85, p < 0.001) and postnatal urinary tract infections (OR = 4.85, p < 0.001) increased the likelihood of surgical intervention. Neonatal birth weight, maternal age, and postnatal ultrasound findings were identified as independent risk factors for genetic mutations, while no significant link was found between these genetic factors and the need for surgery. Surgical needs were associated with urinary tract infections and antenatal hydronephrosis, indicating that timely surgical intervention may benefit these patients.

The American crocodile (Crocodylus acutus, Cuvier, 1807) (Class Reptilia, Family Crocodylidae) is a crocodile species inhabiting the Neotropics. Congenital defects have been described in almost every vertebrate group. In crocodiles, teratology alterations have been described in captive animals (pets, zoos, farms) such as Crocodylus niloticus or Gavialis gangeticus. The present study aimed to characterize congenital malformations of C. acutus from a farm in Lomas de Matunilla, Ballestas, Bolívar, Colombia. A total of 550 unhatched eggs were examined after embryo death. A total of 61 embryos presented malformations, with 42 different types of anomalies observed. Limb and tail malformations (29%) were the most common malformations observed. Several malformations, such as cephalothoracopagus, thoracopagus, sternopagus, xiphopagus twins, campylorrachis scoliosa, and acrania, were documented in crocodiles for the first time. Research in teratology enhances our understanding of crocodile biology. It plays a role in their conservation and management, thus helping to ensure the long-term viability of these species in their natural habitats.

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Congenital anomalies of the kidney and urinary tract (CAKUT) result from disruptions in normal kidney and urinary tract development during fetal life and collectively represent the most common cause of kidney failure in children worldwide. The antenatal determinants of CAKUT are diverse and include mutations in genes responsible for normal nephrogenesis, alterations in maternal and fetal environments, and obstruction within the normal developing urinary tract. The resultant clinical phenotypes are complex and depend on the timing of the insult, the penetrance of underlying gene mutations, and the severity and timing of obstruction related to the sequence of normal kidney development. Consequently, there is a broad spectrum of outcomes for children born with CAKUT. In this review, we explore the most common forms of CAKUT and those most likely to develop long-term complications of their associated kidney malformations. We discuss the relevant outcomes for the different forms of CAKUT and what is known about clinical characteristics across the CAKUT spectrum that are risk factors of long-term kidney injury and disease progression. [ABSTRACT FROM AUTHOR]

Biomineralised remains of trilobites provide important insight into the evolutionary history of a diverse, extinct group of arthropods. Their exoskeletons are also ideal for recording malformations, including evidence of post-injury repair. Re-examination of historic collections and the study of new specimens is important for enhancing knowledge on trilobite malformations across this diverse clade. To expand the records of these abnormalities and present explanations for their formation, we document eight malformed trilobite specimens, as well as one carcass, housed within the Commonwealth Palaeontological Collection at Geoscience Australia in Canberra. We present examples of Asthenopsis, Burminresia, Centropleura, Coronocephalus, Dolicholeptus, Galahetes, Papyriaspis, and Xystridura from Cambrian, Ordovician, and Silurian deposits of Australia. Most of the malformed specimens show W-, U-, or L-shaped indentations that reflect injuries from either failed predation or complications during moulting, and a mangled carcass is ascribed to either successful predation or post-mortem scavenging. We also uncover examples of teratologies, such as bifurcated pygidial ribs and pygidial asymmetry, in addition to evidence of abnormal recovery (i.e., fusion of thoracic segments) from a traumatic incident. [ABSTRACT FROM AUTHOR]

Advancements in ultrasound technology and the integration of cell-free DNA testing into standard prenatal screening services have made it more feasible to identify fetal sex at an early stage. Fetal sex determination through sonography relies on different factors, depending on the gestational stage. In the late second trimester, it is determined by directly visualizing the external genitalia. However, in the late first and early second trimesters, it primarily relies on the direction of the genital tubercle, known as the sagittal sign. Other sonographic landmarks, like the fetal scrotum, midline raphe of the penis, labial lines, uterus, descended testis, and the direction or origin of the fetal micturition jet in males, can aid in the fetal sex determination accuracy. However, malformed external genitalia can lead to inaccurate results. This article focuses on the sonographic determination of fetal sex during the late first trimester, early second trimester and late second trimester, utilizing both transvaginal and transabdominal ultrasound techniques. Additionally, we explore various elements that have contributed to the precision of fetal sex determination. While ultrasound examination of the external genitalia is typically sufficient, there are certain situations where it becomes crucial to identify the internal genitalia for precise prenatal diagnosis and thorough counseling. This paper aims at reviewing these situations in which the evaluation of the external genital organs is necessary, as well as the ways in which ultrasound can be used in the diagnosis of genital malformations. [ABSTRACT FROM AUTHOR]

The present study was conducted to know the incidence of common congenital anomalies in calves presented to the Department of Veterinary Surgery and Radiology, RIVER, Puducherry during the period of 2021-2023. A total of 50 calves from day-old to 20 days old were reported with various conditions involving the gastrointestinal system 23 (46.0%), musculoskeletal system 20 (40.0%), urogenital system 4 (8.0%), nervous system 1 (2.0%) and congenital tumors 2 (4.0%). Gastrointestinal disorders included atresia ani, atresia ani et coli, lateral hernia, evisceration of intestine and umbilical hernia. Musculoskeletal disorders included arthrogryposis, contracted tendon, polymelia and prognathism. Nervous system disorders included hydrocephalus. Urogenital system included persistent urachus and atresia ani with ectopic bladder. Congenital tumors reported were vulval growth and congenital melanoma. In this study gastrointestinal system abnormalities were the most frequent among these congenital malformations in crossbred calves. [ABSTRACT FROM AUTHOR]

Background: Vascular malformation are congenital lesions with complex clinical presentations and management. Their classification and treatment options have considerably changed throughout the years, with conflicting evidence in the literature. Vascular malformations occur due to errors during vasculogenesis. They are present since birth, though they may not be apparent until later in life. These malformations are most frequently found in the head and neck, but can occur in any part of the body. Methodology- The study was carried out in the department of General Surgery of Tertiary care center teaching hospital from September 2018 to September 2020. The sample size taken for this study was 30 patients who were diagnosed as having vascular malformations and undergoing treatment. Patients were examined thoroughly and baseline findings were recorded. All the patients were subjected to either injection sclerotherapy, surgery or wait and watch treatment depending upon the vascular malformation and condition of patient. Sodium tetradecyl sulfate was used as sclerosing agent. Follow up of each patient was scheduled every 2 weeks, and therapy was repeated after 4 weeks, if there was no response or only a partial response. Result- The most commonly affected age group was 0-10 years. Cosmetic problems (63.33%)was the commonest symptom of presentation. Most common type of malformation was venous malformation (83.33%)/truncular malformation (70%). The most common location of vascular malformation was lower extremity (36.66%). A good response was achieved in majority of the patients (50%) treated with sclerotherapy in our study. Conclusion- Injection sclerotherapy is a relatively cost-effective procedure with low complications. Embolization is another treatment useful in cases of large AVMs where sclerotherapy and surgery are not possible. [ABSTRACT FROM AUTHOR]

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most frequent causes of childhood chronic kidney disease (CKD). Using a large CAKUT cohort, we sought to identify the predictors of CKD and to develop a prediction model that informs a risk-stratified clinical pathway. Methods: This was a retrospective cohort study including cases with multicystic dysplastic kidneys (MCDK), unilateral kidney agenesis (UKA), kidney hypoplasia (KH), and posterior urethral valves (PUV). We identified risk factors for CKD (estimated glomerular filtration rate [eGFR] <60 ml/min/1.73 m2) and tested their performance in an adjusted multivariate binary regression model. Prediction probability scores for CKD were used to separate cases likely to develop complications from those not needing specialist follow-up. Results: We identified 452 eligible cases of CAKUT with 22% developing CKD. Strongest associations with CKD included primary diagnosis (OR 3.5, 95% CI 2.6–4.6), preterm delivery (OR 2.3, 95% CI 1.2–4.4), non-kidney anomalies (OR 1.8, 95% CI 1.1–3), first eGFR<90 (OR 8.9, 95% CI 4.4–18.1), small kidney size (OR 9, 95% CI 4.9–16.6), and additional kidney anomalies (OR 1.6, 95% CI 1.2–2.8). PUV (OR 4.7, 95% CI 1.5–15.3), first eGFR <90 (OR 4.4, 95% CI 2–9.7), and kidney length to body length ratio <7.9 (OR 4.2, 95% CI 1.9–9.2) were independent predictors of CKD. The regression model had a prediction accuracy of 80% and a prediction probability c-statistic of 0.81. Conclusion: Using a large combined CAKUT cohort we identified risk factors for CKD. Our prediction model provides the first steps towards a risk-stratified clinical pathway. [ABSTRACT FROM AUTHOR]

Canada is one of the main petroleum producers in the world. Through its oil sands exploitation, a viscous bitumen mixed with sand, water, and clay is being produced. This bitumen is so viscous that approximatively 20%–30% of diluent needs to be added to ease transportation, resulting in a mixture called diluted bitumen (dilbit). The transport of dilbit through North America comes with a potential risk for oil spills in freshwater ecosystems at any time of the year. In this study, a mesoscale spill tank was used to study dilbit spills in freshwater to understand the effect of cold (winter-like) vs. warmer (spring- and fall-like) water temperatures on its natural weathering and their toxicity to fathead minnow (Pimephales promelas) embryos. Water samples were collected weekly during two consecutive 35-day experiments ran at either 2 or 15 °C. Each week, fish larvae were exposed for 7 days, and water analysis was performed. Chemical analysis showed that the volatile organic compound, total organic carbon, and polycyclic aromatic hydrocarbon concentrations decreased in both experiments with time, while fish larvae exposed to both temperature settings yielded increased abnormalities, EROD activity, CYP1A, and glutathione S-transferase mRNA expression levels, and decreased heart rate. Importantly, there were no major differences between the temperature regimes on dilbit weathering, highlighting that if a spill occurs in colder waters, it would be equally toxic to organisms. This work provides new data on the potential risk of oil spill for use during response planning and modelling.

Background: 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. Methods: 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. Results: 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. Conclusions: 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.