Congenital Malformations Research Articles

Acalvaria, rare congenital malformation in Palestine: case report and literature review: Retraction.

[This retracts the article DOI: 10.1097/MS9.0000000000002643.].

An inhalation exposure assessment of Hexafluoroisobutylene in pregnant rats.

Hexafluoroisobutylene (HFIB) is an important compound widely used in semiconductor lithography materials, refrigerants, fluorine coatings, and pharmaceutical intermediates in the fluorination industry. Owing to its toxicity, the occupational exposure in the workplace, especially for pregnant woman is the concern and there is still lack of the data of HFIB toxicity on pregnancy and fetal development. Here, for the first time, we investigated the effects of HFIB on pregnant rats and fetal development. The pregnant rats were exposed to different doses of HFIB (0 ppm, 27.2 ppm, 53.5 ppm, 105.6 ppm) via whole-body inhalation for the period of organogenesis, which from implantation (gestation day 5) to the day prior to scheduled caesarean section (gestation day 19). The results showed that the pregnant rats exposed to 105.6 ppm HFIB displayed systemic toxicity, including a decrease in body weight and food consumption, as well as tracheal inflammation, pulmonary interstitial inflammation and renal tubular swelling. Moreover, reduced fetal and placental weights, delayed ossification, and a reduced number of ossification centers were observed in fetuses delivered by pregnant rats exposed to 105.6 ppm. These effects were attributed to severe maternal weight loss. In addition, it would be useful to note that no whole-body, visceral or skeletal congenital malformations were observed. However, HFIB exposure at 53.5 ppm showed no significant adverse effects on pregnant rats and fetuses. These findings demonstrate that 105.6 ppm HFIB is a toxic concentration, while 53.5 ppm HFIB is the no-observed-adverse-effect concentration (NOAEC) for both pregnancy and fetal development. This study for the first time to provide evidence for the health risk of HFIB exposure on pregnancy and fetal development.

Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014.

Coloboma is a rare congenital malformation in which part of the tissue that makes up the eye is missing and may cause visual impairment or blindness. Little is known about the epidemiology of this condition. Therefore, we obtained data from the Texas Birth Defects Registry on children identified with coloboma for the period 1999-2014. Using information on all live births from the same period, prevalence ratios (PRs) for selected demographic and clinical factors were used to estimate associations using Poisson regression among cases with coloboma. Coloboma cases were divided into subgroups to explore patterns of co-occurring defects and syndromes. All variables significant in unadjusted models (p < 0.05) were included in multivariable models to evaluate adjusted PRs (aPRs). We identified 1587 cases with coloboma, of whom 934 (58.8%) were nonsyndromic, and 474 (29.9%) were isolated. When considering all identified cases, factors associated with significant differences in prevalence included plurality (multiple vs. singleton aPR = 1.4, 95% CI: 1.1-1.8); maternal education (college or greater vs. less than high school aPR = 0.7, 95% CI: 0.6-0.9); maternal race/ethnicity (Hispanic vs. non-Hispanic White aPR = 0.9, 95% CI: 0.8-1.0); and maternal diabetes (yes vs. no aPR = 1.3, 95% CI: 1.0-1.6). There was a notable increase in the birth prevalence of coloboma during the study period (p-for-trend < 0.001). Effect estimates were similar across the different subgroups. In our large population, we identified several factors associated with the prevalence of coloboma. These findings may help define subgroups of women more likely to have children affected by coloboma, which could inform improved screening efforts.

NEONATAL CONGENITAL MALFORMATIONS: A CASE REPORT OF 81 CASES EXPERIENCE OF THE NEONATAL INTENSIVE CARE UNIT, CHU MED VI TANGIER

The aim of this study is to describe and analyze the various congenital malformations diagnosed in our department, and to cite some probable etiological factors. Over a one-year period, we collected 81 cases of newborns with clinically apparent congenital malformations. Boys were the most affected in 55.5% of cases, with a sex ratio of 1.25. Musculoskeletal malformations accounted for 30.8% (25 cases), followed by polymalformations 27.1% (22 cases), CNS malformations 22.2%, digestive tract and anterior abdominal wall malformations 12.3% (10 cases) and urogenital malformations 7. 4% (6 cases of hypospadias). We noted a relationship between the occurrence of congenital malformations and advanced maternal age (p&lt;0.05), parity (p&lt;0.05), the presence of a chronic pathology in the mother, mainly diabetes (p=0.02), and family history of congenital malformation (p&lt;0.001).

Congenital and Perinatal Viral Infections: Consequences for the Mother and Fetus

Viruses are the most common congenital infections in humans and an important cause of foetal malformations, neonatal morbidity, and mortality. The effects of these infections, which are transmitted in utero (transplacentally), during childbirth or in the puerperium depend on the timing of the infections. These vary from miscarriages (usually with infections in very early pregnancy), congenital malformations (when the infections occur during organogenesis) and morbidity (with infections occurring late in pregnancy, during childbirth or after delivery). The most common of these viruses are cytomegalovirus, hepatitis, herpes simplex type-2, parvovirus B19, rubella, varicella zoster and zika viruses. There are currently very few efficacious antiviral agents licensed for use in pregnancy. For most of these infections, therefore, prevention is mainly by vaccination (where there is a vaccine). The administration of immunoglobulins to those exposed to the virus to offer passive immunity or appropriate measures to avoid being infected would be options to minimise the infections and their consequences. In this review, we discuss some of the congenital and perinatal infections and their consequences on both the mother and fetus and their management focusing mainly on prevention.

Maternal Cannabis Use During Pregnancy and Maternal and Neonatal Adverse Outcomes.

Cannabis is a psychoactive substance the availability and use of which, in various forms, has been liberalized in many countries across the world. Cannabis use, including by women of reproductive age, has become increasingly common, with (in some studies) >5% of women using the substance even during pregnancy to self treat nausea, vomiting, stress, anxiety, depression, insomnia, chronic pain, and other conditions. Women who use cannabis during pregnancy are more likely to have a medical or mental health condition; they are commonly unaware that cannabis is associated with pregnancy related risks. These risks arise from effects of cannabis on cannabinoid receptors in the placenta as well as from cannabis constituents that cross the placenta and act on receptors in the developing fetal brain; other mechanisms may also operate. This article examines recent cohort studies and meta-analyses on specific maternal and neonatal adverse outcomes associated with gestational exposure to cannabis. Maternal cannabis use during pregnancy is associated with small to moderately increased risks of gestational hypertension, gestational weight gain less than as well as greater than guidelines, and placental abruption. Maternal cannabis use during pregnancy is also associated with small to moderately increased risks of preterm birth (<36 weeks, <34 weeks, and <32 weeks), small for gestational age, low birth weight, neonatal intensive care unit admission, and fetal death. The risk of some of these adverse outcomes is greater with greater frequency of cannabis use. These adverse outcomes have been identified even in women who do not use other substances during pregnancy. Other adverse outcomes, such as major congenital malformations and neurodevelopmental disorders, are also reported (but are not discussed in this article). For these and other reasons, many professional bodies across the world are already discouraging women from using cannabis during pregnancy. It is important for pregnant women to be educated about cannabis and pregnancy related risks in a shared decision-making process.

Risk Factors for Prematurity and Congenital Malformations in Assisted Reproductive Technology Pregnancies-A Retrospective Study.

Background: Assisted reproductive technology (ART) nowadays plays a major role in the treatment of infertility, with the most frequently used techniques being in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). The objective of this study is to analyze pregnancies achieved using these ART techniques and their correlations with the prematurity and congenital malformations rates. Methods: This is an observational retrospective longitudinal study that includes 814 newborns conceived through an ART, namely IVF or ICSI. Results: Using a multivariate logistic regression analysis mode, there is a higher prematurity rate in twin pregnancies OR 16 (95% CI 10.7, 23.8), donor conception OR 1.8 (95% CI 1.1, 3.3) and PIH pregnancy OR 2.6 (95% CI 1.5, 4.5). The odds of malformations in these ART pregnancies are increased by the stage of the embryo (day 3) OR 2.6 (95% CI 1.3, 5.2), fresh embryo transfer OR 2 (95% CI 1.2, 3.4) and donor conception OR 2.3 (95% CI 1.2, 4.4). The ART used (IVF/ICSI) does not influence the prematurity or birth defects rate. Conclusions: Donor conception is found to increase the odds of both prematurity and congenital malformations. The ART used (IVF/ICSI) does not influence the prematurity or birth defects rate.

Congenital pulmonary airway malformation in a cat.

Congenital structural anomalies of the lower airways of the respiratory tract are uncommon in cats. We describe here a case of cystic pulmonary lesions in a 6-wk-old domestic shorthair cat consistent with congenital pulmonary airway malformation (CPAM; formerly referred to as cystic adenomatoid malformation of the lung, or congenital pulmonary adenomatoid malformation; Stocker type II). CPAM is rarely reported in veterinary species and, to our knowledge, has not been reported in cats. In humans and veterinary species, individuals with CPAM (Stocker types I-IV) can be asymptomatic at birth but are predisposed to developing respiratory abnormalities that typically manifest clinically in the early years of life. We review the pathologic features of CPAM.

Study of renal blood flow in children with obstructive uropathies

Aim. To evaluate hemodynamic indicators of the kidneys in children with obstructive uropathies.Materials and Methods. The study was conducted at the Republican Scientific and Clinical Center of Pediatrics and Pediatric Surgery, involving 32 children aged 1 to 14 years, comprising 18 girls (56.3%) and 14 boys (43.7%). The children were divided into 3 groups: Group I with unilateral hydronephrosis - 14 (43.7%) children, Group II with bilateral hydronephrosis - 10 (31.3%) children, and Group III with ureterohydronephrosis - 8 (25%) children.Results and Discussion. Obstructive uropathy resulting from congenital kidney malformations, such as organic obstruction (hydronephrosis), causes dilation of the renal collecting system, increased ureteral pressure, reduced intrarenal blood flow, renal parenchyma atrophy, and progressive chronic renal failure.Conclusion. The above findings demonstrate that ultrasound using pulsed-wave Doppler and color Doppler mapping is an optimal non-invasive method for assessing renal hemodynamics.

Higher Incidence of Common Polymorphisms in the Genes of Folate and Methionine Cycles in Children With Orofacial Clefs and Congenital Heart Defects Compared to their Unaffected Siblings.

Uninterrupted folate metabolism plays a vital role in embryonic development, ensuring a supply of one-carbon-activated folate cofactors for essential processes. Folate deficiency has been implicated in the development of orofacial clefts (OFC) and congenital heart disease (CHD). Although both malformations have been extensively studied in lieu of folate deficiency, the results of corresponding studies are ambiguous due to the interplay of maternal and fetal genomes controlling folate metabolism in the developing fetus. We used the innovative study design to compare affected and unaffected siblings from the same mother, thus minimizing the effect of the maternal genome. Thus, it might be possible to identify genetic markers of congenital malformations that pertain exclusively to the child. This study compared demographic and environmental factors between OFC or CHD-affected and unaffected pregnancies as well as the presence of polymorphisms in genes of folate metabolism between OFC or CHD-affected and unaffected siblings. Only the maternal fever in the first trimester was a risk factor for OFC, whereas the maternal advanced age, medication administration, and common polymorphism in the FPGS gene increased the risk of CHD formation. Both OFC and CHD formation were associated with a higher number of variant loci in genes of folate-methionine cycles. Both OFC and CHD formation were associated with a higher number of mutated loci in genes of folate-methionine cycles, indicating polygenic and possibly multifactorial inheritance.

Rare Combination of Congenital Microtia and Limb Malformations: Analysis of Etiology and Treatment.

Congenital microtia is the second most common congenital craniofacial deformity, and limb malformation is the most common birth defect. The combination of the 2 deformities is rare. In this study, the authors present 3 cases with a rare combination of congenital microtia and limb malformations and analyze the etiology and treatment of the malformations. There may be genetic homology between these two malformations, and they can be associated with abnormal ectodermal migration. Level IV-case study.

Cryoablation for intrapulmonary bronchial cyst: A case report

BACKGROUND Bronchial cysts are congenital malformations usually located in the mediastinum, and intrapulmonary localization is very rare. Cryoablation is a novel therapeutic approach that promotes tumor necrosis and stimulates anti-tumor immune responses. CASE SUMMARY This article reports a case of a 68-year-old male patient who was diagnosed with an intrapulmonary bronchogenic cyst by computed tomography examination and pathology, and the patient subsequently underwent cryoablation therapy and achieved complete response with after 3 months of follow-up. CONCLUSION Intrapulmonary bronchogenic cysts are very rare, cryoablation therapy is feasible, safe, and effective for intrapulmonary bronchial cysts.

National survey to estimate seroprevalence for toxoplasmosis among pregnant women in France, 2021

Abstract Background Toxoplasmosis during pregnancy can result in congenital malformations and fetal death. In France, universal antenatal screening and monthly re-testing of seronegative pregnant women has been established since the 1970s. However, decreasing Toxoplasma gondii seroprevalence among pregnant women and lower incidence of congenital toxoplasmosis may challenge the cost-effectiveness of such programs. The aim of this study was to estimate the current seroprevalence among pregnant women participating in the 2021 national perinatal survey (ENP). Methods All adult women giving birth in France between 15-21 March 2021 were invited to participate in the ENP. Data collected included demographic information, nationality, socio-economic status, education level and Toxoplasma gondii serology. We classified a woman as seropositive if she had IgG antibodies prior to pregnancy or seroconverted during it. Univariable and multivariable regression analyses using Poisson model were conducted to estimate prevalence ratios (PRs) and identify significant factors associated with seropositivity. Results Among the 15,605 participating women, 0.22% seroconverted during pregnancy. The overall seroprevalence was 25.95%. Seropositivity was higher with increasing age (∼5% per 5 years), among residents of French overseas territories Guadeloupe/Saint Martin (PRs:1.07; 95%-CI: 1.03-1.10), La Réunion (PRs:1.10; 95%-CI: 1.08-1.13) and Mayotte (PRs:1.27; 95%-CI: 1.23-1.31), with lower education (PRs:1.22; 95%-CI: 1.04-1.42) and African nationality (PRs:1.11; 95%-CI: 1.02-1.20). Conclusions High seroprevalence for Toxoplasma gondii was found in older women, which may reflect their higher risk of past exposure. The observed geographical differences in seroprevalence may mirror dietary and environmental diversity. Declining seroprevalence among pregnant women in France can affect screening effectiveness and warrants a comprehensive review to determine appropriate future prevention strategies. Key messages • Older women and residents of French overseas territories show higher toxoplasmosis seroprevalence, possibly due to past exposure risks and diverse diets/environments. • Declining toxoplasmosis seroprevalence among pregnant women in France can affect screening effectiveness and warrants a comprehensive review to determine appropriate future prevention strategies.

Neonatal screening for hearing loss and its associated factors: A pediatric hospital experience

Abstract Introduction Hearing impairment affects 0.6% of children worldwide, with 60% of cases being preventable. Identifying risk factors for hearing impairment would facilitate early detection and better patient prognosis. Objectives To identify factors associated with abnormalities in auditory screening in a pediatric hospital. Methods A cross-sectional study was conducted on patients assessed in the early hearing detection program at the Pediatric Tower of the High Specialty Hospital of Veracruz, Mexico, between June 2022 and 2023. Screening was performed using otoacoustic emissions initially. Those with abnormalities underwent two retests, and those positive in all three evaluations underwent confirmatory testing. Newborn screening was conducted at discharge for healthy neonates and after reaching a weight of over 1.8 kg and more than 34 gestational weeks for preterm infants. For term and low-birth-weight babies, screening occurred when they reached 2 kg, considering positive results in any of the three tests indicative of altered screening and probable hearing impairment. Results A total of 2731 patients were fully evaluated, with 1416 (51.8%) being male, and a median Apgar score of 9 at 5 minutes. The incidence of hearing impairment was 0.7%, comprising 19 patients. Evaluation of sex, 5-minute Apgar score, weight, gestational age, congenital malformations, history of neonatal asphyxia, hyperbilirubinemia, sepsis, TORCH infections, family history of hearing impairment, maternal exposure to ototoxic drugs, substances, COVID-19, gestational diabetes, or maternal hypertension obtaining values of p &amp;gt; 0.05 in each of them. Conclusions The prevalence of hearing loss is similar to that reported in the literature. In our population, auditory screening abnormalities are not associated with classic perinatal factors, indicating the complexity of contributors to neonatal hearing impairment. Key messages • The neonatal screening program plays a fundamental role in identifying patients with hearing loss even without any clinical factor that arouses suspicion of hearing loss. • Early diagnosis will favor timely care for patients with hearing loss, favoring their development with adequate care to improve their quality of life.

Reduced Sox7 contributes to abnormal valve development resulting in congenital aortic stenosis

Abstract Background Abnormal valve development is the most common congenital heart malformation. During valve remodeling, abnormal changes in valve cell proliferation, apoptosis, and extracellular matrix synthesis affect valve development, resulting in malformations. The molecular mechanisms underlying pathophysiology of aortic stenos is remain unclear. Purpose We would like to explore how Sox7 is involved in aortic valve development. Methods and Results We proved Sox7 was mainly expressed in endocardial and mesenchymal cells of aortic valves by immunofluorescence staining determined by at different stages of mice (E10.5～8 weeks) and human embryos and RNA-seq of E9.5 mouse embryonic hearts. We constructed a conditional Sox7 floxed allele in endothelial cells using an endocardial specific Cre. Echocardiography data showed that Nfat-KO mice had increased blood velocity, pressure gradient across aortic valves, left ventricular mass and dilated aortic roots. Then, HE and Sirius red staining to examine histological changes in aortic valves of Nfat-KO mice were performed, and we observed a remarkable increase in the size and increased staining of fibrotic cells in aortic valves of KO mice. Next, we collected embryonic hearts of Sox7 CNC-specific knockout mice (WNT1-KO) and controls at E16.5. According to HE staining results and echocardiography analysis, there was no difference in aortic valves between WNT1-KO mice and controls. Meanwhile, we collected Nfat-KO mice and control embryos at E11.5 days. HE staining results showed that EndMT process was not impaired. Interestingly, leaflets and cusps of Nfat-KO mice showed significantly augmented proliferation levels, decreased apoptosis levels, and calcium deposition in fibrin layer. A significant decrease in MMP9 levels were observed in both mRNA and protein levels. Co-transfection of Sox7-expressing vector and MMP9 luciferase in MEEC suggested that Sox7 significantly activated MMP9. We used adenovirus to overexpress Sox7 in valvular interstitial cells. Compared with that in control group, the Sox7-overexpression group increased protein level of MMP9 and cleaved caspase-3, and increased Tunel-positive rate and lower Ki-67 positive rate. Finally, we detected expression of Sox7 protein in human fetal aortic valves derived from patients with aortic stenosis using immunofluorescence. The results demonstrated that the number of Sox7 positive mesenchymal cells in human fetal aortic valves of patients was significantly lower than that in control group. Conclusion We demonstrated that targeted inactivation of Sox7 in the endocardium of mice affects valve development and leads to aortic stenosis. Mechanistically, no influence of Sox7 on the EndMT process of the OFT cushion. Moreover, CNC-derived Sox7 was not involved in aortic valve development. Interestingly, we found that Sox7 regulated ECM remodeling through matrix MMP9 and Sox7 had an impact on apoptosis, proliferation, and calcification.

A clinical case of congenital cystic adenomatous malformation of the lung type II

Cystic adenomatous malformation of the lung is a rather rare congenital malformation of the respiratory system characterized by the formation of cysts of various diameters, manifesting as respiratory distress syndrome in the postnatal period, and frequent respiratory infections. This pathology has several developmental variants, including malignant transformation and regression, and may also be associated with other developmental anomalies. The final diagnosis is established on the basis of histologic features. Clinically manifest forms require surgical intervention in the early postpartum period. The treatment of asymptomatic cases remains controversial. Some specialists recommend a nonoperative approach with prolonged clinical and radiologic follow-up, while others advocate prophylactic surgical resection. In this article, we consider a clinical case of a 4-month-old child who, since the age of 2 months, had this pathology accompanied by frequent episodes of respiratory infections, complicated by bronchitis, bronchial obstruction syndrome, respiratory failure of varying degrees and once - up to the development of out-of-hospital bilateral polysegmental pneumonia, which required the prescription of multicomponent pharmacotherapy. Computerized tomography of the chest organs was crucial in diagnosing the pathology, which revealed cysts of the upper lobe of the right lung.

Familial osteochondrodysplastic and cardiomyopathic syndrome in Chianina cattle.

Skeletal dysplasia encompasses a heterogeneous group of genetic disorders characterized by an abnormal development of bones, joints, and cartilage. Two Chianina half-sibling calves from consanguineous mating with congenital skeletal malformations and cardiac abnormalities were identified. To characterize the disease phenotype, to evaluate its genetic cause, and to determine the prevalence of the deleterious alleles in the Chianina population. Two affected calves, their parents and 332 Chianina bulls. The affected animals underwent clinicopathological investigation. Whole-genome sequencing trio-approach and PCR-based assessment of the frequency of TDP-glucose 4,6-dehydratase (TGDS) and laminin subunit alpha 4 (LAMA4) alleles were performed. The cases presented with retarded growth, poor nutritional status associated with muscular atrophy and angular deformities of the hindlimbs. Radiologic examination identified generalized osteopenia and shortening of the limb long bones. Necropsy showed osteochondrodysplastic limbs and dilatation of the heart right ventricle. On histological examination, the physeal cartilages were characterized by multifocal mild to moderate loss of the normal columnar arrangement of chondrocytes. Osteopenia also was observed. Genetic analysis identified a missense variant in TGDS and a splice-site variant in LAMA4, both of which were homozygous in the 2 cases. Parents were heterozygous and allele frequency in the Chianina population for the TGDS variant was 5% and for the LAMA4 variant was 2%. Genetic findings identified 2 potentially pathogenic alleles in TGDS and LAMA4, but no clear mode of inheritance could be determined.

Effect of Natural Ionizing Radiation on Health Indicators in Region with Monazite Sand in Brazil

Abstract Objective This article compares the occurrence of cancer and germinal damage in the city of Guarapari-Espírito Santo (ES), an area with high natural ionizing radiation, with other coastal cities. Material and Methods The evaluated cities were: Guarapari (ES), Campos (Rio de Janeiro), Rio Grande (Rio Grande do Sul), and Ilhéus (Bahia); the following factors were considered: mortality rate % from tumors (2007–2017), mortality rate % from tumors up to 15 years of age (2007–2017), hospital morbidity rate % from tumors up to 15 years of age (2008–2018), and hospital morbidity rate % from congenital malformation and chromosomal anomalies (2008–2018). Radiometric surveys were conducted by the Applied Physics Group at Universidade Federal do Espírito Santo. Results The natural radiation levels recorded in Guarapari resulted in accumulated dose between 3.65 and 10.95 mSv/year, and 1 mSv in the other cities. The highest average cancer mortality rates were: Rio Grande = 22.4%; Guarapari = 17.6%; Campos = 16.7%; and Ilhéus = 11.8%. The proportional hospital mortality and morbidity rates for cancer up to 15 years of age are as follows: Ilhéus = 3.36 and 5.87%; Rio Grande = 0.79 and 7.38%; Guarapari = 0.64 and 7.25%; and Campos = 0.39 and 9.13%. The hospital morbidity rate due to congenital malformations and chromosomal anomalies was 0.72% for Campos, 0.63% for Rio Grande, 0.62% for Guarapari, and 0.43% for Ilhéus. Conclusion There was no increase in cases of cancer or germ damage in Guarapari. These results indicated a dose threshold in the induction of these damages, contradicting the current linear no-threshold theory.

Molecular Biology for Diagnosis of Congenital and Neonatal Infections in the Cerebrospinal Fluid of Newborns from a Brazilian Tertiary Hospital

The risk of infection transmission from mother to fetus depends on the pathogen. TORCH agents cause some neuroinfections, including Toxoplasmosis, rubella, Cytomegalovirus, herpes simplex 1 and 2, and others (Varicella Zoster, Parvovirus B-19, Epstein–Barr virus, and Zika virus). The consequences can be stillbirth, prematurity, uterine growth restriction, and congenital malformations. The detection of DNA/RNA from CSF by molecular methods is a marker of the involvement of congenital infection in the central nervous system. This study aimed to identify the frequency of these pathogens in CSF samples from newborns (1 to 28 days old) at a tertiary hospital, using PCR, and determine the clinical consequences. Methods: This was a prospective descriptive study involving the molecular analysis of 151 CSF samples from neonates, collected for cytological and biochemical diagnosis from 2017 to 2021. After the results and consent from the participants’ caregivers were obtained, the leftover material was sent to the University’s Virology Laboratory and submitted for DNA/RNA extraction and Nested-PCR/RT-PCR. A review of the patients’ medical records and descriptive statistics was performed. This work was approved by the Ethics Committee (CAAE: 86760218.3.0000.5404). Results: A total of 151 CSF samples were obtained, 16 of which were positive (10.6% [95% CI%: 6.18–16.63%]). Two of these were PCR-positive for HSV-1 (1.3%), four for VZV (2.6%), one for CMV (0.67%), two for Toxoplasmosis (1.3%), four for Parvovirus B-19 (2.6%), and four for Zika (2.6%). The proportion of positive PCR results was higher in the group that presented with malformations (25.0% vs. 8.4%, p = 0.040). Conclusions: The pathogens identified by PCR were mostly Zika virus, VZV, and B-19, and these were mainly found in newborns with malformations.

Audiological and Subjective Benefits in a Child with Microtia and Atresia After Sequential Bilateral Implantation with Active Bone Conduction Devices: A Case Study

Background: With bilateral hearing loss, the main problems for the patient are speech understanding in noise and, especially in asymmetrical hearing loss, an inability to correctly localize sound sources. There are multiple methods of treatment and rehabilitation for people with conductive hearing loss, and one of them is to use an active bone conduction implant. This case study is designed to evaluate the auditory benefits and sound localization accuracy with active bilateral bone conduction implants—in comparison to unilateral ones—in a patient with congenital bilateral conductive hearing loss caused by a congenital malformation. We assess subjective and audiological benefits (functional, directional hearing, speech comprehension in quiet and noise). Case report: This study describes the results in a 15-year-old patient with bilateral congenital malformation of the outer ears and associated conductive hearing loss who was treated with two Bonebridge active bone conduction implants. Speech recognition ability, hearing thresholds, and sound localization were tested under three conditions: unaided, unilateral on the right-side, and bilateral on both sides. The patient filled in an Abbreviated Profile of Hearing Aid Benefit questionnaire (APHAB) to evaluate limitations in daily life caused by hearing impairment. The results show an improvement in free-field hearing thresholds and the ability to discriminate speech, both in quiet and in noise after implantation. Subjectively, the patient had significantly fewer problems with two implants than with one (or with no implant) in terms of hearing in everyday situations. Conclusions: Unilateral use of the Bonebridge device in a patient with congenital bilateral conductive hearing loss did not provide full benefits. However, bilateral implantation improved speech understanding in noise and sound localization.