Cases Of Congenital Anomalies Research Articles

Monocephalus dipygus in a 4-month-old mixed-breed puppy: clinical, radiographic, ultrasonographic, karyotyping and surgical intervention

ABSTRACT Congenital anomalies are rare in veterinary medicine, and their aetiology, development, clinical presentation, and management remain poorly understood. This study documents a rare case of multiple congenital anomalies occurring simultaneously in a single individual. We present a comprehensive analysis of a 4-month-old mixed-breed puppy diagnosed with caudal duplication (monocephalus dipygus), integrating clinical, radiographic, ultrasonographic, cytogenetic findings, and surgical intervention. The puppy exhibited several external abnormalities, including a supernumerary limb, a single tail, two penises, and two distinct scrotal sacs. Radiographic examination revealed additional metatarsal and phalangeal bones in the supernumerary limb. Ultrasonography and exploratory laparotomy further identified two bladders, a single prostate, and bifurcated ureters, each connecting to a kidney. Cytogenetic analysis was conducted to investigate potential chromosomal abnormalities underlying these congenital anomalies, as we hypothesized that these malformations might be linked to chromosomal aberrations. The successful surgical removal of the supernumerary limb significantly improved the dog’s mobility. Notably, since each bladder was independently connected to a kidney, surgical intervention in the genitourinary system was avoided to prevent potential impairment of urinary function. This case highlights the complexity of congenital anomalies in canines and emphasizes the importance of a multidisciplinary approach to their diagnosis and management.

Residential Environment and Parental Lifestyle as Risk Factors of The Co-Occurrence of Cleft Lip and Palate Birth Defect Cases in Indonesia

Cleft lip and palate (CLP) are multifactorial birth defects, and the etiology behind their occurrence remains insufficiently understood. This case-control study aimed to investigate the association between residential environmental factors, parental lifestyle, and the risk of CLP in Indonesia. A total of 213 participants from 14 provinces were selected using stratified random sampling. Multivariable logistic regression was employed to determine the odds ratios (ORs) with 95% confidence intervals (CIs) for each risk factor. The study identified significant associations between several residential environmental factors and CLP. Proper kitchen ventilation was found to be protective (OR = 0.245, 95% CI: 0.096–0.624, p = 0.003), while proximity to industrial sites significantly increased the risk (OR = 3.595, 95% CI: 1.029–12.558, p = 0.045). Additionally, using treated drinking water showed a protective effect (OR = 0.39, 95% CI: 0.16–0.95, p = 0.038), whereas concerns about water sources displayed a marginally significant risk increase (OR = 2.841, 95% CI: 0.876–9.211, p = 0.082). Regarding parental lifestyle factors, maternal active smoking exhibited a marginal protective association (OR = 0.052, 95% CI: 0.002–1.09, p = 0.057), while paternal passive smoking presented a marginally significant risk (OR = 2.309, 95% CI: 0.897–5.942, p = 0.083). Furthermore, paternal radiation exposure was associated with an elevated risk of CLP (OR = 3.489, 95% CI: 0.828–14.703, p = 0.089). These findings highlight the need for targeted public health interventions to mitigate environmental exposures and promote safer parental lifestyle behaviors in Indonesia.

Analysis of Clinical Diagnosis and Treatment Modes for Congenital Branchial Cleft Anomalies.

The objective of this study was to investigate and assess the clinical data of 123 patients diagnosed with congenital branchial cleft anomalies (CBCAs), to summarize pivotal aspects concerning their clinical diagnosis and treatment process. The authors conducted a retrospective analysis of 123 patients who underwent surgical intervention for CBCAs at our institution between August 2005 and September 2021. The clinical demographic characteristics of the patients, primary symptoms, treatment chronology, preoperative diagnostic assessments, surgical strategies, occurrences of postoperative complications, and rates of recurrence were subjected to statistical analysis. Among the enrolled patients, there were 43 cases (34.9%) of congenital first branchial cleft anomalies (CFBCA), 76 cases (61.8%) of congenital second branchial cleft anomalies (CSBCA), and 4 cases (3.3%) of congenital third branchial cleft anomalies (CTBCA), with no cases of congenital fourth branchial anomalies (CFBA). Notably, among all cases, 43 anomalies were situated in the upper one-third of the sternocleidomastoid muscle, while 80 anomalies were located in the lower one-third. Different surgical approaches were selected for patients based on the specific type of anomaly presented. Following surgery, there was recurrence in 14 cases, with factors such as patient age, clinical categorization, lesion type, and history of preoperative infection and surgical intervention identified as primary risk factors for it. CBCAs represent comparatively uncommon disorders affecting the head and cervical regions in clinical practice. Diagnostic modes such as ultrasonography and lipiodol contrast radiography can be used for accurate diagnosis, with surgical intervention serving as the primary therapeutic method.

Популяционные частоты врожденной диафрагмальной грыжи в регионах РФ по данным мониторинга врожденных пороков развития

Congenital diaphragmatic hernia (CDH) is a severe birth defect characterized by impaired development of the diaphragm that leads to displacement of the abdominal organs into the chest with incidence from 2 to 4 per 10,000 births and its interregional differences that determine the need for assessing the regional incidence. The purpose of this research was to determine the populational CDH incidence and its dynamics in Russia regions based on the data from nationwide epidemiological monitoring of birth defects (BDs). Materials and methods used: the analysis included 2011-2022 data from a cohort study based on BDs epidemiological monitoring from 25 regional registers. In total there were 1493 BD cases among live births, stillbirths and eliminated fetuses with malformations that were included in the study with the total birth count of 5,366,657. Results: the overall CDH incidence in the 25 selected Russia regions was 2.78 per 10,000 births (95% CI 2.71-2.85) without any significant change in its dynamics over the observed period. Interregional differences in CDH incidence were revealed as follows: the maximum incidence of 4.49 (95% CI 3.92-5.06) was registered in the Republic of Sakha (Yakutia); the minimum of 1.23 (95% CI 0.76-1.69) was registered in the Novgorod Oblast. The gender ratio of those affected was 1.2 males per 1 female. The majority of cases (53.81%) were represented by liveborn children, the proportion of stillborns was 5.99%, the proportion of fetuses with diaphragmatic hernia (DH) was 40.2%. 68% were represented by cases of isolated DH v. 32% of a combination of ВР with another BDs among all cases. Conclusion: this study has revealed the CDH incidence rates in 25 selected Russia regions, the incidence variety between the regions with the stability of it in dynamics. Conducting such epidemiological studies is important for understanding the nationwide spread of diseases and identifying risk factors that are important for the prevention and treatment of diseases.

Retrospective Review of Congenital Anomaly Cases in Ruminants

This study was designed to provide data on the incidence rates of congenital anomalies and their distribution by organs and systems in calves, lambs and kids brought to Van Yuzuncu Yil University, Surgery Clinic between 2017-2023. The animal material of the study consisted of 1104 ruminants, including 886 calves, 183 lambs and 35 kids, aged 0-6 months. In addition to clinical examination, anomalies were diagnosed by using direct and indirect radiographic examinations when necessary. In some cases, a definitive diagnosis was made by performing experimental laparotomy based on clinical and radiological examinations. 341 out of 1104 ruminants, including 234 calves, 96 lambs and 11 kids, suffered from congenital anomalies. Of the ruminants with congenital anomalies, 208 (61.00%) were male, 132 (38.70%) female and 1 (0.30%) hermaphrodite. Abdominal wall anomalies were determined with the highest number of 112 (32.9%) cases. These were followed by musculoskeletal system anomalies in 83 (24.4%) cases and gastrointestinal system anomalies in 56 (16.5%) cases. Head region anomalies occurred in 41 cases (12.1%), urinary system anomalies in 23 cases (6.8%) and CNS anomalies in 9 cases (2.6%). Multiple anomalies were recorded in 16 (4.7%) cases. In conclusion, congenital anomalies are frequently seen as pathologies in ruminants in our country, especially in our region. Avoiding inbreeding, making artificial insemination widespread, improving the care and nutrition of the dam during pregnancy, correcting adverse environmental conditions and eliminating stress factors, avoiding over-the-counter medication misuse during pregnancy and most importantly informing field veterinarians and animal owners about the subject will contribute to the prevention of congenital malformations and losses in livestock.

Expert's tips on regional blocks in neonates and infants.

Pediatric regional anesthesia (RA) has emerged as a rapidly advancing dimension within pediatric anesthesia, demanding a continual commitment to knowledge acquisition. This review underscores the contemporary significance of this specialty, focusing on its application in neonates and infants. The primary objective of RA is to address perioperative pain effectively while preserving the delicate physiological balance, thereby enhancing overall patient care. This review explores the advantages offered by RA in this age group. Furthermore, conventional, and recently introduced techniques of RA are examined by exploring the advantages and disadvantages of these methods. The aim is to provide clinicians with a nuanced understanding of their applicability in different clinical scenarios. Additionally, the review elucidates the unique considerations associated with pediatric RA, acknowledging pediatric patients' distinctive anatomical and physiological characteristics. The exceptional cases of congenital anomalies and their implications for the choice of RA are considered. An aspect of the review is its focus on dosages of local anesthetics and the volumes required for various blocks in neonates and infants. The dosages for continuous infusion and practical issues with infusions are considered. Complications due to RA are described with their prevention and treatment. The review offers pragmatic insights into the selection criteria for various regional blocks, aiding anesthesiologists in making informed decisions tailored to individual patient needs.

Maternal Exposure to Ozone and the Risk of Birth Defects: A Time-Stratified Case-Crossover Study in Southwestern China.

A few studies have explored the relationship between air pollution exposure and the risk of birth defects; however, the ozone-related (O3) effects on preconception and first-trimester exposures are still unknown. In this time-stratified case-crossover study, conditional logistic regressions were applied to explore the associations between O3 exposure and the risk of birth defects in Chongqing, China, and stratified analyses were constructed to evaluate the modifiable factors. A total of 6601 cases of birth defects were diagnosed, of which 56.16% were male. O3 exposure was associated with an increased risk of birth defects, and the most significant estimates were observed in the first month before pregnancy: a 10 ug/m3 increase of O3 was related to an elevation of 4.2% [95% confidence interval (CI), 3.4-5.1%]. The associations between O3 exposure and congenital malformations and deformations of the musculoskeletal system were statistically significant during almost all exposure periods. Pregnant women with lower education and income, and from rural areas, were more susceptible to O3 exposure, with the strongest odds ratios (ORs) of 1.066 (95%CI, 1.046-1.087), 1.086 (95%CI, 1.034-1.140), and 1.053 (95%CI, 1.034-1.072), respectively. Our findings highlight the health risks of air pollution exposure and raise awareness of pregnant women's vulnerability and the susceptibility window period.

MATERNAL AGE INCREASES THE RISK OF DOWN SYNDROME: A CASE-CONTROL STUDY IN YOGYAKARTA, INDONESIA

Background: Down syndrome incidence increases year to year and ranks first in birth defect cases in Indonesia. Down syndrome birth may burden family physically, socially, economically, and emotionally. The most common risk factor associated to Down syndrome is maternal age. Objective: This research is conducted to understand the association between maternal age and parity as the risk factors of Down syndrome births. Methods: Analytical observation design with case-control approach is used in this study. Bivariate and multivariate analysis were calculated using Chi-Square and binary logistic regression test. Results: This research’s results showed significant association between maternal age as risk factor with the incidence of Down syndrome (p-value < 0.001) and no significant association between parity with the incidence of Down syndrome (p-value > 0.05) in Yogyakarta, Indonesia. Mothers aged ? 35 years have 18.82 greater risk to give birth Down syndrome baby compared to mothers aged < 35 years (OR=18.82). The mean of maternal age when birth Down Syndrome children was 35.1 years old. Biological ovarium aging hypothesis presumed cause higher probability of chromosomal segregation failure during oocyte meiosis. Advanced maternal age naturally causes biological ovarium aging. Biological ovarium aging may caused or influenced by hormonal imbalance, limited oocyte pool, oxidative stress, change of spontaneous abortus mechanism, and genetic abnormality or mutation. No significant association between parity with the incidence of Down Syndrome (p-value=0.0689). Conclusion: Mothers with age of 35 year or older are the only the risk factor for having child with Syndrome Down in this research, with 18.82 more greater risk than mothers under 35 years old. The mean of maternal age when birth Down Syndrome children was 35.1 years old.

Absence of the Posterior Element of C1 and C2 Along With Mild Wedge Shape in Body of C3: Case Report

Due to the wide variety of cervical vertebral congenital anomalies, knowledge of their types and related clinical conditions can prove to be helpful for physicians and surgeons in the diagnosis and treatment of patients. The aim of this study is to report on a rare case of unstable cervical vertebral congenital anomaly in which the patient had a defect in the body of the C3 vertebra in addition to defects in the posterior arch of C1 and posterior element of C2. This type of anomaly has not been reported so far in the literature. To reduce the patient’s related neurological disorders, our treatment choice for this patient was occipitocervical fusion (OCF) surgery. At the 3-year postoperative follow-up, all sensory and motor problems related to this anomaly affecting the patient's upper and lower limbs and causing shoulder and neck pain were eliminated. In this rare type of anomaly, OCF surgery seems to be an effective choice in relieving the patient's neurological symptoms.

The association between prenatal cannabis use and congenital birth defects in offspring: A systematic review and meta-analysis

IntroductionA body of research has examined the association between prenatal cannabis use and congenital birth defects in offspring; however, these studies have not been synthesised. We performed a comprehensive synthesis of existing research to test whether there is an association between prenatal cannabis use and congenital birth defects in exposed offspring.ObjectivesThe aim of this study was to conduct a comprehensive systematic review and meta-analysis of existing evidence to synthesise the association between prenatal cannabis use and congenital birth defects in exposed offspring.MethodsIn line with the preregistered protocol (PROSPERO: CRD42022368623), we systematically searched PubMed/Medline, CINHAL, EMBASE, Web of Science, ProQuest, Psych-Info, and Google Scholar for published articles until 4 April 2023. The methodological quality of the included studies was appraised by the Newcastle-Ottawa Quality Assessment Scale (NOS). A meta-analysis was carried out to report the pooled effect estimates from the included studies. We further performed subgroup, leave-one-out sensitivity, and meta-regression analyses, which increased the robustness of our findings.ResultsThirty observational studies (i.e., fifteen case-control and fifteen cohort studies) with 229,930 cases of birth defects and 26,826,741 controls (healthy babies) were included in the final analysis. We found that offspring exposed to maternal prenatal cannabis had a 56%, 69%, 47%, 23%, and 13% increased risk of any birth defects (irrespective of specific body system) [RR = 1.56: 95 % CI 1.28 – 1.92], defects of the gastrointestinal [RR = 1.69: 95 % CI 1.37 – 2.09], cardiovascular/heart [RR = 1.47: 95 % CI 1.09 – 1.97], central nervous systems [RR = 1.43: 95 % CI 1.09 – 1.89], and facial/oral cleft [RR = 1.13: 95 % CI 1.08 – 1.18], respectively.ConclusionsThe findings from the current study suggest that maternal prenatal cannabis exposure is associated with a higher risk of birth defects in offspring. The findings highlight the importance of promotive and preventive strategies to reduce cannabis use during pregnancy that contribute to minimising the risk of birth defects in offspring.Disclosure of InterestNone Declared

Direct potable reuse and birth defects prevalence in Texas: An augmented synthetic control method analysis of data from a population-based birth defects registry.

Direct potable reuse (DPR) involves adding purified wastewater that has not passed through an environmental buffer into a water distribution system. DPR may help address water shortages and is approved or is under consideration as a source of drinking water for several water-stressed population centers in the United States, however, there are no studies of health outcomes in populations who receive DPR drinking water. Our objective was to determine whether the introduction of DPR for certain public water systems in Texas was associated with changes in birth defect prevalence. We obtained data on maternal characteristics for all live births and birth defects cases regardless of pregnancy outcome in Texas from 2003 to 2017 from the Texas Birth Defects Registry and birth and fetal death records. The ridge augmented synthetic control method was used to model changes in birth defect prevalence (per 10,000 live births) following the adoption of DPR by four Texas counties in mid-2013, with county-level data on maternal age, percent women without a high school diploma, percent who identified as Hispanic/Latina or non-Hispanic/Latina Black, and rural-urban continuum code as covariates. There were nonstatistically significant increases in prevalence of all birth defects collectively (average treatment effect in the treated = 53.6) and congenital heart disease (average treatment effect in the treated = 287.3) since June 2013. The estimated prevalence of neural tube defects was unchanged. We estimated nonstatistically significant increases in birth defect prevalence following the implementation of DPR in four West Texas counties. Further research is warranted to inform water policy decisions.

11 Novel Systematic Method for Identifying Congenital Anomaly Cases in Electronic Health Record Databases

OBJECTIVES/GOALS: Congenital anomalies (CAs) affect 3% of live births, yet the cause of 80% of CAs is unknown and for the 20% with an identified cause, variability in penetrance suggests additional risk drivers exist. Our method for identifying and categorizing CAs in electronic health record (EHR) linked biobank databases can expand and improve CA etiologic research. METHODS/STUDY POPULATION: We identified individuals with CAs in three groups: 1. Those with at least one CA 2. Those with multiple CAs (MCA), those with two or more ‘major’ CAs, and 3. Those with CAs in a specific organ system. We also created a novel quantitative approach, using phenome-wide association studies (pheWAS), for determining CA-associated genetic disease billing codes in order to separate individuals that have a known genetic cause for their CAs from those with idiopathic CAs. We updated CA phecodes, aggregates of clinical billing codes, which we used to identify CA cases in Vanderbilt’s EHR-linked biobank database, BioVU. We create a new phecode, ‘All CAs’, for researchers to quickly identify all individuals with at least one CA. We evaluate the definition of MCA using pheWAS analyses to compare ‘minor’ vs ‘major’ CA. RESULTS/ANTICIPATED RESULTS: The new CA phecode nomenclature includes 5.8 times more codes for CAs compared with the previous version (365 vs 56), improving granularity. 85 (19.7%) CA-associated genetic disease billing codes were identified through literature review. PheWAS analyses revealed an additional 16 (3.7%) genetic disease billing codes with one or more significant (p< 2.75 x10-5) association with CA-related phecodes. Identifying CA-associated genetic disease billing codes allows researchers to differentiate between idiopathic CAs and those that have a known genetic cause. PheWAS analyses of individuals with previously considered “minor” CAs showed many associated severe health problems, revealing that the differentiation between “minor” vs “major” CAs when identifying individuals with MCA in the EHR is arbitrary. DISCUSSION/SIGNIFICANCE: Our CA identification method is scalable for the growing number of EHR-linked biobanks. Differentiating between idiopathic CAs from those with known causes will increase power in studies discovering additional genetic drivers of CAs. Our novel method allows for expansion and acceleration of CA epidemiological research in EHR-linked biobank data.

The association between prenatal cannabis use and congenital birth defects in offspring: A cumulative meta-analysis

ObjectiveTo examine the association between prenatal cannabis use and structural birth defects in exposed offspring. MethodsIn line with the preregistered protocol (PROSPERO: CRD42022368623), we systematically searched PubMed/Medline, CINHAL, EMBASE, Web of Science, ProQuest, Psych-Info, and Google Scholar for published articles until 25 January 2024. The methodological quality of the included studies was appraised by the Newcastle-Ottawa Quality Assessment Scale (NOS). A meta-analysis was carried out to report the pooled effect estimates from the included studies. We further performed subgroup, leave-one-out sensitivity, and meta-regression analyses, which increased the robustness of our findings. ResultsIn this cumulative meta-analysis, thirty-six observational studies, consisting of 18 case-control and 18 cohort studies, with 230, 816 cases of birth defects and 18,049,013 controls (healthy babies) were included in the final analysis. We found that offspring exposed to maternal prenatal cannabis are at greater risks of a wide range of structural birth defects: cardiovascular/heart [OR = 2.35: 95 % CI 1.63 – 3.39], gastrointestinal [OR = 2.42: 95 % CI 1.61 – 3.64], central nervous system [OR = 2.87: 95 % CI 1.51 – 5.46], genitourinary [OR = 2.39: 95 % CI 1.11 – 5.17], and any (unclassified) birth defects [OR = 1.25: 95 % CI 1.12 – 1.41]. ConclusionThe findings from the current study suggest that maternal prenatal cannabis exposure is associated with a higher risk of different forms of structural birth defects in offspring. The findings underscore the significance of implementing preventive strategies, including enhanced preconception counselling, to address cannabis use during pregnancy and mitigate the risk of birth defects in offspring.

Frequency and types of congenital uterine anomalies during caesarean section: A prospective cohort study

: Congenital uterine anomalies are due to mal-development of the mullerian ducts. They can lead to adverse reproductive outcomes like recurrent miscarriage, preterm birth, foetal malpresentation and subfertility. Prevalence of congenital uterine anomalies is 5-7%. To find the frequency and types of congenital uterine anomalies during caesarean section. This is a prospective cohort study done at SDM College of Medical Sciences and Hospital, Dharwad, India from August 2020 to July 2021. 2932 women undergoing caesarean section participated in the study. The uterus was examined thoroughly. The type of uterine anomaly was noted. : There were 22 cases of congenital uterine anomalies (CUAs) during caesarean section. Prevalence of CUA was 0.75%. There was increased incidence of miscarriage(27%), pre-eclampsia (31.8%), foetal malpresentation (31.8%), foetal growth restriction (9%) and preterm caesarean section (40.9%) among women with a uterine anomaly. Commonest type of CUA was unicornuate uterus (31.8%), followed by septate (27.2%), arcuate (22.7%) and bicornuate uterus (18.1%). Poorest outcomes were seen with septate and unicornuate uteri.: Caesarean section provides an opportunity to diagnose congenital uterine anomalies. This information can be used to plan their future reproductive life. Exploring the uterus to look for uterine anomalies after delivery of the fetus and placenta has to be done and documented.

Demographic and clinical characteristics of central nervous system congenital anomalies: A one year review of cases managed at UDUTH Sokoto

Background: The spectrum of CNS congenital anomalies varies from one geographical location to another across the globe. This essentially can be solitary or multiple and can be cranial, spinal, combination of both cranial and spinal or others. The understanding of their distribution in each location could determine local workforce and facility needs and as well guide in the areas of sub specialization. Objective: The aim of this study is to document the pattern of CNS congenital anomalies cases that had surgical intervention, at the Usmanu Danfodiyo University Teaching Hospital, Sokoto. Methods: A cross-sectional, retrospective hospital based study from January, 2021 to December, 2021 of all patients with CNS congenital anomalies who had surgical intervention at the Neurosurgery Department, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria. Results: A total of 49 cases presented to our facility and had surgical interventions for central nervous system congenital anomaly. Of those 49 cases with CNS Congenital anomalies, there were 25 (51.0%) males and 24(48.98%) females, with a male-to-female ratio of 1.04: 1. The median age was 185 days, with age range of 2– 364days. Overall, the most commonly diagnosed neurosurgical CNS congenital anomalies in order of decreasing frequency were Congenital hydrocephalus 20 (40.82%), Myelomeningocele 14 (28.57%), Encephalocele 10 (20.41%), combination of Hydrocephalus associated with myelomeningocele 8(16.33%), Meningocele 3(6.12%), Lipomeningocele 1( 2.00%), Dandy walker malformation 1( 2.00%) , and Dandy variant1(2.00%) . Conclusions: NTDs (Myelomeningocele, Meningocele and lipomeningocele) were the most common CNS anomalies (55.10%). However, congenital hydrocephalus, Myelomeningocele, Encephalocele, Hydrocephalus + MM, and Meningocele are common in our environment in decreasing frequency. Though, Lipomeningocele, Dandy walker malformation and dandy variant are relatively rare. Understanding of this distribution may guide service expansion and workforce needs, inspire sub specialization as well as direct research and government policy in this community.

Birthmarks and birth defects in the head and neck region and claims of past-life memories: A systematic review.

This systematic review compiles published information on subjects with head or neck birth defects or birthmarks in which past-life memories were alleged. Electronic searches were done in April 2022 in the following bibliographic databases: MEDLINE/PubMed, Web of Science, Scopus, EMBASE, and PsycINFO. References of the included studies and the gray literature were searched. Our sample included six studies reporting 19 cases of birthmarks and birth defects in the head and neck region with alleged past-life memories. The features of the lesions varied, and their size ranged between 0.5 to 12cm. All the cases had interviews with the family of the deceased person and the family of the child with the birthmarks, and nine of them included some type of verified official report. The strength of the evidence in the cases was analyzed using the strength-of-evidence scale. This study showed that birthmarks and birth defects in the head and neck region occurred mostly in male children, with the possibility of these marks being caused by the fatal injury of the alleged personality. The literature lacks new cases with high strength of evidence, emphasizing the need for further primary studies.

Anomalies in the development of the tracheobronchial tree (clinical case)

According to the International Classification of Diseases the trachebronchial tree (TBT) anomalies are grouped into class XVII “Congenital anomalies (malformations), deformities and chromosomal disorders” (Q30–Q34, namely Q32.1 – “Other malformations of the trachea”).This paper presents a clinical case of congenital anomaly of TBT. Patient M., 18 years old, diagnosis of ICD-10 J90 Pleural effusion, not classified elsewhere, was referred from the pulmonology department to perform bronchoscopy for differential diagnosis with pulmonary tuberculosis. When the device was passed through the trachea, in the lower third towards the right main bronchus, a diverticuloid protrusion of the tracheal wall with deformation of the cartilaginous ring was found.Results and discussions. After examination, the conclusion was formed: Anomaly in the development of the lower third of the trachea (reduced tracheal bronchus on the right). Anomalies in the development of TBT are an extremely rare pathology, the pathology we describe is called “tracheal bronchus”. The tracheal bronchus, the rarest malformation of TBT with a frequency of no more than 1–2 % of cases, is the result of dysontogenesis. It is usually located on the right side of the trachea and may end blindly in the form of a diverticulum. In our description, there is no other anomaly of the TBT, so it can be attributed to the supernumerary variant of the tracheal bronchus. When anomalies in the development of TBT are detected, it is necessary to carry out differential diagnostics with tracheal diverticula, in which only its membranous part suffers.Conclusions. The clinical case we are describing refers to a supernumerary variant of the tracheal bronchus and requires the additional use of high-tech verification methods. We do not exclude that the environmental factors in the city of Zheleznogorsk could be the cause of its development.

Evaluation of the ear ossicles with photon-counting detector CT.

Recently, computed tomography with photon-counting detector (PCD-CT) has been developed to enable high-resolution imaging at a lower radiation dose. PCD-CT employs a photon-counting detector that can measure the number of incident X-ray photons and their energy. The newly released PCD-CT (NAEOTOM Alpha, Siemens Healthineers, Forchheim, Germany) has been in clinical use at our institution since December 2022. The PCD-CT offers several advantages over current state-of-the-art energy-integrating detector CT (EID-CT). The PCD-CT does not require septa to create a detector channel, while EID-CT does. Therefore, downsizing the anode to achieve higher resolution does not affect the dose efficiency of the PCD-CT. CT is an indispensable modality for evaluating ear ossicles. The ear ossicles and joints are clearly depicted by PCD-CT. In particular, the anterior and posterior legs of the stapes, which are sometimes unclear on conventional CT scans, can be clearly visualized. We present cases of congenital anomalies of the ossicular chain, ossicular chain dislocation, tympanosclerosis, and cholesteatoma in which PCD-CT was useful. This short article reports the usefulness of PCD-CT in the 3D visualization of the ear ossicles.

O-150 Birth defects reporting and the use of oral dydrogesterone in assisted reproductive technology : a global pharmacovigilance study

Abstract Study question Is dydrogesterone exposure during early pregnancy associated with the reporting of birth defects ? Summary answer We observed an increased reporting of birth defects, such as congenital heart defects and hypospadias, with dydrogesterone, especially compared to progesterone use. What is known already In assisted reproductive technology (ART), intravaginal administration of progesterone is the standard of care to overcome luteal phase progesterone deficiency induced by ovarian stimulation. In the recent years, the Lotus I and Lotus II randomized controlled clinical trials, demonstrated that oral dydrogesterone, a synthetic progesterone derivative, was non-inferior for pregnancy rate at 12 weeks of gestation and could be an alternative to micronized vaginal progesterone (MVP). Safety profiles in both mother and child were similar. However, concerns have been raised recently regarding an association between dydrogesterone usage during early pregnancy and congenital heart disease in the offspring. Study design, size, duration We performed a case-non case study, similar in the concept to case-control study, using the international pharmacoviligance database, VigiBase. Study cohort consisted in spontaneous reports regarding pregnant women identified using the ad-hoc standardized query (SMQ “Pregnancy and neonatal topics”). Birth defect cases were reports containing a term related to “congenital, familial and genetic disorders” System Organ Classes (SOCs) (excluding genetic, infectious and metabolic abnormalities). Non-cases were reports of any other adverse drug reaction. Participants/materials, setting, methods Through a case–non case study conducted since database inception to 12/31/2021, we first compared the reporting of birth defects with dydrogesterone to that of any other drug, then to any other drug used for ART. Secondly, we performed a comparison on the reporting of birth defects for dydrogesterone with progesterone. Results are presented as reporting odds ratio (ROR) and their 95% confidence interval (95%CI). For each comparison, two sensitivity analyses were performed. Main results and the role of chance Among 29,120,563 individual case safety reports, 50,653 were related to the use of drugs for ART. Of these, 375 were cases of birth defects, including 60 (16%) with dydrogesterone. Dydrogesterone cases were mostly reported from Europe (73%) by physicians (82%). No other teratogenic drug was suspected in the onset of birth defect for dydrogesterone. 44 cases out of 60 (73.3%) were compatible with major birth defect (MBD) cases according to EUROCAT classification. These cases contained a total of 55 MBD, consisting mainly in genital defects such as hypospadias (n = 18, 32.7%), congenital heart defects (n = 15, 27.3%) limb defects (n = 10, 18.2%) and digestive system defects (n = 6, 10.9%). In the primary analysis, a significant disproportionate reporting of birth defects was found with dydrogesterone when compared to any other drug (ROR 5.4, 95%CI [3.9-7.6]) and to any other ART agent (ROR 5.9, 95%CI [4.2-8.4]). In the head-to-head comparison to progesterone, we found an increased reporting of birth defect with dydrogesterone (ROR 5.4, 95%CI [3.7-7.9]).These results were confirmed in both sensitivity analyses. Limitations, reasons for caution First, under-reporting, being inherent to pharmacovigilance systems, impedes the measurement of the incidence of adverse drug reaction and can limit the sensitivity of signal detection. Second, drug causality, not being the same for all cases, is challenging for such events and requires further assessment. However, sensitivity analyses showed consistent results. Wider implications of the findings Physicians should be aware of this potential risk and caution should be used when prescribing dydrogesterone for luteal phase support. Further data are needed to confirm that safety signal. Trial registration number Not applicable

Maternal exposure to zolpidem and risk of specific birth defects.

Zolpidem is a non-benzodiazepine agent indicated for treatment of insomnia. While zolpidem crosses the placenta, little is known about its safety in pregnancy. We assessed associations between self-reported zolpidem use 1 month before pregnancy through to the end of the third month ("early pregnancy") and specific birth defects using data from two multi-site case-control studies: National Birth Defects Prevention Study and Slone Epidemiology Center Birth Defects Study. Analysis included 39,711 birth defect cases and 23,035 controls without a birth defect. For defects with ≥ 5 exposed cases, we used logistic regression with Firth's penalised likelihood to estimate adjusted odds ratios and 95% confidence intervals, considering age at delivery, race/ethnicity, education, body mass index, parity, early-pregnancy antipsychotic, anxiolytic, antidepressant use, early-pregnancy opioid use, early-pregnancy smoking, and study as potential covariates. For defects with three-four exposed cases, we estimated crude odds ratios and 95% confidence intervals. Additionally, we explored differences in odds ratios using propensity score-adjustment and conducted a probabilistic bias analysis of exposure misclassification. Overall, 84 (0.2%) cases and 46 (0.2%) controls reported early-pregnancy zolpidem use. Seven defects had sufficient sample size to calculate adjusted odds ratios, which ranged from 0.76 for cleft lip to 2.18 for gastroschisis. Four defects had odds ratios > 1.8. All confidence intervals included the null. Zolpidem use was rare. We could not calculate adjusted odds ratios for most defects and estimates are imprecise. Results do not support a large increase in risk, but smaller increases in risk for certain defects cannot be ruled out.