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1.
J Environ Sci (China) ; 150: 254-266, 2025 Apr.
Article in English | MEDLINE | ID: mdl-39306401

ABSTRACT

Formaldehyde (HCHO) is a high-yield product of the oxidation of volatile organic compounds (VOCs) released by anthropogenic activities, fires, and vegetations. Hence, we examined the spatiotemporal variation trends in HCHO columns observed using the Ozone Monitoring Instrument (OMI) during 2005-2021 across the Fenwei Plain (FWP) and analysed the source and variability of HCHO using multi-source data, such as thermal anomalies. The spatial distribution of the annual mean HCHO in the FWP increased from northwest to southeast during 2005-2021, and the high-value aggregation areas contracted and gradually clustered, forming a belt-shaped distribution area from Xi'an to Baoji, north of the Qinling Mountains. The annual mean HCHO concentration generally showed a two-step increase over the 17 years. Fires showed a single-peak trend in March and a double-peak M-shaped trend in March and October, whereas urban thermal anomalies (UTAs) showed an inverted U-shaped trend over 17 years, with peaks occurring in May. The HCHO peaks are mainly caused by the alternating contributions of fires and UTAs. The fires and UTAs (predominantly industrial heat sources) played a role in controlling the background level of HCHO in the FWP. Precipitation and temperature were also important influencing variables for seasonal variations, and the influence of plant sources on HCHO concentrations had significant regional characteristics and contributions. In addition, the FWP has poor dispersion conditions and is an aggregated area for the long-range transport of air pollutants.


Subject(s)
Air Pollutants , Environmental Monitoring , Formaldehyde , Formaldehyde/analysis , Air Pollutants/analysis , Environmental Monitoring/methods , China , Volatile Organic Compounds/analysis , Air Pollution/statistics & numerical data
2.
J Med Case Rep ; 18(1): 456, 2024 Sep 20.
Article in English | MEDLINE | ID: mdl-39300528

ABSTRACT

INTRODUCTION: Coronary cameral fistulas (CCFs) are rare congenital anomalies characterized by abnormal connections between a coronary artery and one of the cardiac chambers. These abnormal connections can lead to significant clinical implications, including heart failure and myocardial ischemia, necessitating timely diagnosis and intervention. CASE PRESENTATION: A 5-year-old Iranian boy was brought to the emergency room at Heart Hospital Center complaining of chest pain and dyspnea on exertion. He had experienced similar episodes over the past 4 months, which had not been evaluated. Physical examination revealed stable vital signs and no remarkable findings. Transthoracic echocardiography demonstrated a dilated left coronary artery with a large aneurysm and a small orifice to the right ventricular body. The left ventricular ejection fraction was 55%. Cardiac computed tomography angiography confirmed the diagnosis. Cardiac angiography showed a dilated left coronary artery and a coronary cameral fistula to the right ventricular . The aneurysm was successfully occluded using two Amplatzer™ devices. CONCLUSION: This case underscores the critical role of multimodal imaging in diagnosing and managing coronary cameral fistulae. Early detection and appropriate intervention are paramount in preventing the progression of symptoms and potential complications such as heart failure and myocardial ischemia. The successful closure with Amplatzer™ devices highlights the efficacy of minimally invasive techniques in treating complex cardiovascular anomalies. Regular follow-up and careful monitoring are essential to ensure long-term success and to manage any potential recurrences. CLINICAL KEY MESSAGE: Timely identification and management of coronary cameral fistulae are crucial to prevent complications. Advances in imaging techniques and minimally invasive treatments, such as transcatheter closure, offer effective solutions. A multidisciplinary approach and regular follow-up are essential for comprehensive care and successful long-term management.


Subject(s)
Coronary Vessel Anomalies , Echocardiography , Humans , Male , Child, Preschool , Coronary Vessel Anomalies/diagnostic imaging , Coronary Vessel Anomalies/complications , Coronary Vessel Anomalies/therapy , Coronary Angiography , Heart Ventricles/diagnostic imaging , Heart Ventricles/abnormalities , Computed Tomography Angiography , Vascular Fistula/diagnostic imaging , Coronary Aneurysm/diagnostic imaging
3.
Article in English | MEDLINE | ID: mdl-39306587

ABSTRACT

PURPOSE: Sigmoid sinus anomalies such as dehiscence or diverticula may present with pulsatile tinnitus (PT) and low-frequency hearing loss. Occasionally, these symptoms are severe, necessitating resurfacing of the affected area to restore a normal-appearing sinus wall. This study describes three cases wherein we managed PT attributed to sigmoid sinus anomalies using polymethylmethacrylate (PMMA) bone cement, a novel material. METHODS: Three patients with PT without any history of illnesses initially underwent cortical mastoidectomy to expose the affected area and resurface the sinus wall. Subsequently, PMMA bone cement was used to reconstruct any bony defects causing PT symptoms. Viscosity of the bone cement was altered based on specific characteristics and causes of the affected area. Additionally, we performed the water occlusion test (WOT), audiological assessment, the Tinnitus Handicap Inventory score (THI), and temporal computed tomography, both pre- and postoperatively, to assess the extent of PT. RESULTS: Preoperatively, all three patients had tinnitus that dissipated with pressure on the neck and the water occlusion test (WOT), with no reported vertigo, trauma, or ear infections. Moreover, all three cases had a severe handicap according to the THI. In contrast, all cases had reduced PT and a significantly decreased THI score postoperatively, as well as no recurrence or complications and no instances of increased intracranial hypertension at the 12-month follow-up. CONCLUSION: All cases showed promising results, emphasizing the sustained benefits of this novel intervention for the management of PT.

4.
Cureus ; 16(8): e67283, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39301380

ABSTRACT

A four-vessel umbilical cord is a rare anomaly that can occur with abnormal persistence of the caudal portion of the vessel. Although supernumerary vessels can present as an isolated finding, they are known to be associated with multiple significant congenital anomalies. Ectopia cordis, pulmonary stenosis, cleft lip, cleft palate, situs inversus, tetralogy of Fallot, and gastroschisis are some anomalies associated with four-vessel cords. This is a case of a 22-year-old multigravida with a four-vessel umbilical cord initially found on sonography. The patient was sent to Maternal Fetal Medicine for evaluation. It was determined that the patient had a right supernumerary umbilical vein that did not require further workup. The patient presented to labor and delivery at 36 weeks and five days with regular contractions. After normal vaginal delivery without complications, the four-vessel-umbilical cord was visualized and confirmed by pathology. The patient and neonate both did well with no complications.

5.
Int J Pediatr Otorhinolaryngol ; 186: 112095, 2024 Sep 07.
Article in English | MEDLINE | ID: mdl-39278130

ABSTRACT

OBJECTIVE: First branchial cleft anomalies are rare congenital head and neck lesions. Literature pertaining to classification, work up and surgical treatment of these lesions is limited and, in some instances, contradictory. The goal of this work is to provide refinement of the classification system of these lesions and to provide guidance for clinicians to aid in the comprehensive management of children with first branchial cleft anomalies. MATERIALS AND METHODS: Delphi method survey of expert opinion under the direction of the International Pediatric Otolaryngology Group (IPOG) was conducted to generate recommendations for the definition and management of first branchial cleft anomalies. The recommendations are the result of expert consensus and critical review of the literature. RESULTS: Consensus recommendations include evaluation and diagnostic considerations for children with first branchial cleft anomalies as well as recommendations for surgical management. The current Work classification system was reviewed, and modifications were made to it to provide a more cogent categorization of these lesions. CONCLUSION: The mission of the International Pediatric Otolaryngology Group (IPOG) is to develop expertise-based recommendations based on review of the literature for the management of pediatric otolaryngologic disorders. These consensus recommendations are aimed at improving care of children presenting with first branchial cleft anomalies. Here we present a revised classification system based on parotid gland involvement, with a focus on avoiding stratification based on germ layer, in addition to guidelines for management.

6.
Rev Port Cardiol ; 2024 Sep 13.
Article in English, Portuguese | MEDLINE | ID: mdl-39278568

ABSTRACT

INTRODUCTION AND OBJECTIVE: Congenital heart disease (CHD) is a complex condition requiring a multidisciplinary approach. It is crucial that adults with CHD (CHD) have adequate knowledge of their condition, enabling them to engage in their healthcare decisions and self-management. We aimed to investigate knowledge and perception among adults of their CHD. METHODS: Single-center, observational, cross-sectional study. A 25-item adapted survey of Leuven Questionnaire for CHD was used to assess four main domains: (1) disease and treatment, (2) endocarditis and preventive measures, (3) physical activity and (4) reproductive issues. RESULTS: 148 patients participated in the study. Patients had a significant lack of knowledge localizing their heart defect, recognizing drug side effects, acting in case of experiencing drug side effects, recognizing at least two symptoms of clinical deterioration, to adequately define endocarditis and most typical signs and risk factors, to acknowledge the hereditary nature of their CHD and risk of clinical deterioration during pregnancies. Patients with an education level ≥12th grade have higher knowledge in various items and, overall, the complexity of CHD was not associated with a better performance. CONCLUSION: This study highlights the existing knowledge gaps among adults with CHD. It underscores the need for tailored information and structured educational programs to improve management. By addressing these challenges, healthcare providers can enhance patient outcomes, improve quality of life, and promote long-term well-being for individuals with CHD.

7.
J Phys Condens Matter ; 36(50)2024 Sep 17.
Article in English | MEDLINE | ID: mdl-39250930

ABSTRACT

Solid materials that deviate from the harmonic crystal paradigm exhibit characteristic anomalies in the specific heat and vibrational density of states (VDOS) with respect to Debye's theory predictions. The boson peak (BP), a low-frequency excess in the VDOS over Debye lawg(ω)∝ω2, is certainly the most famous among them; nevertheless, its origin is still subject of fierce debate. Recent simulation works provided strong evidence that localized one-dimensional string-like excitations (stringlets) might be the microscopic origin of the BP. In this work, we study the dynamics of acoustic phonons interacting with a bath of vibrating 1D stringlets with exponentially distributed size, as observed in simulations. We show that stringlets strongly renormalize the phonon propagator and naturally induce a BP anomaly in the VDOS, corresponding to the emergence of a dispersionless BP flat mode. Additionally, phonon-stringlet interactions produce a strong enhancement of sound attenuation and a dip in the speed of sound near the BP frequency, consistent with experimental and simulation data. The qualitative trends of the BP frequency and intensity are predicted within the model and shown to be in good agreement with previous observations. In summary, our results substantiate with a simple theoretical model the recent simulation results by Hu and Tanaka claiming the origin of the BP from stringlet dynamics.

8.
Cureus ; 16(8): e66962, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39280392

ABSTRACT

Background Orofacial clefts are congenital anomalies affecting the development of the oral and facial structures, influenced by genetic and environmental factors. The prevalence of orofacial clefts varies globally, necessitating region-specific studies to understand contributing factors. Orofacial clefts are among the most common congenital defects affecting the head and neck, underscoring the importance of investigating paternal and maternal influences on their development to enhance awareness and understanding of potential contributing factors. Therefore, this research aimed to investigate parental risk factors contributing to the development of orofacial clefts.  Methods A retrospective cohort study was conducted at the Oral and Maxillofacial Department of King Khaled Hospital, Hail, Saudi Arabia, involving 40 parents of children born between 2019 and 2023 with orofacial clefts. Data collection included interviewer-administered questionnaires with parents addressing demographic information, pregnancy details, parental medical history, and postoperative outcomes. Statistical analysis utilized descriptive statistics, chi-square tests, Fisher's exact test, and linear regression, with significance defined as p<0.05. Results The study had a gender distribution of 19 males (47.5%) and 21 females (52.5%) among orofacial cleft cases (p<0.75), with cleft palate (13 cases, 32.5%) and cleft lip (11 cases, 27.5%) being the most prevalent anomalies (p<0.05). Maternal supplementation rates were high, with 34 mothers (85%, p<0.05) taking folic acid and 36 mothers (90%, p<0.05) taking iron, yet orofacial clefts incidence persisted. Paternal risk factors such as tobacco use were reported by 19 fathers (47.5%, p<0.05), and familial history of orofacial clefts was noted in nine cases (22.5%, p<0.05). Postoperative outcomes indicated varying levels of functional recovery and satisfaction. Conclusion This study explored the complex origins of orofacial clefts, emphasizing genetic and environmental influences. The findings suggest a potential paternal risk factor. The study highlights the need for further investigation into genetic mechanisms and the development of effective prevention strategies.

9.
Clin Genet ; 2024 Sep 17.
Article in English | MEDLINE | ID: mdl-39289831

ABSTRACT

Congenital anomalies of the kidney and urinary tract (CAKUT) and congenital heart disease (CHD) are the most common congenital defects and constitute a major cause of morbidity in children. Anomalies of both systems may be isolated or associated with congenital anomalies of other organ systems. Various reports support the co-occurrence of CAKUT and CHD, although the prevalence can vary. Cardiovascular anomalies occur in 11.2% to 34% of patients with CAKUT, and CAKUT occur in 5.3% to 35.8% of those with CHD. The co-occurrence of genetic factors in both CAKUT and CHD would raise common etiologies including genetics, genetic-environmental interactions, or shared molecular mechanisms and pathways such as NODAL, NOTCH, BMP, WNT, and VEGF. Studies in animal models and humans have indicated a genetic etiology for CHD and CAKUT with hundreds of genes recognized and thousands of entries, found in a catalog of human genetic disorders. There are over 80 CAKUT genes and over 100 CHD genes available for clinical testing. For example, the HNFIB gene accounts for 5% to 31% of reported cases of CAKUT. In view of the association between CAKUT and CHD, a thorough cardiac examination should be performed in patients with CAKUT, and a similar evaluation for CAKUT in the presence of CHD. This will allow early diagnosis and therapeutic intervention to improve the long- term outcome of patients affected, and test for at-risk family members. We present here evidence for an association of anomalies involving the two organ systems, and discuss possible etiologies of targeted genes, their functions, biological processes and interactions on embryogenesis.

10.
Cureus ; 16(8): e67613, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39310392

ABSTRACT

This case report details anatomical variations in a cadaveric donor during the dissection laboratory. This case shows a possible association between an incomplete double ureter, arching testicular arteries, and an accessory testicular artery. This case describes these variations and briefly discusses ways to classify them. We aim to document these anomalies, discuss possible embryological reasons for their association, and shed light on their clinical significance. This case report contributes to the limited literature and highlights the importance of reporting these anomalies when encountered during autopsies or pedagogical cadaveric dissection.

11.
Cureus ; 16(8): e67328, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39310543

ABSTRACT

We present a rare case of dichorionic diamniotic twin anencephaly and exencephaly discovered in a 35-year-old female at 13.1 weeks of gestation. Anencephaly and exencephaly are neural tube defects (NTD) with devastating consequences caused by the failure of the anterior neural groove closure leading to exencephaly, followed by brain disintegration causing anencephaly. While NTD themselves are common congenital anomalies, their presence in both twins of a dichorionic diamniotic gestation is exceedingly rare and has only been documented in one other instance. The uncertainty surrounding risk factors involved in this specific case underscores the importance of ongoing research to elucidate other potential determinants in the pathogenesis of NTD and to discover novel preventive strategies, particularly in twin pregnancies. Future research endeavors should explore the interplay of genetic, environmental, and other anomalous factors to deepen our understanding and improve clinical outcomes for affected pregnancies.

12.
Am J Med Genet A ; : e63874, 2024 Sep 24.
Article in English | MEDLINE | ID: mdl-39315659

ABSTRACT

Radial ray deficiency (RRD) may be isolated, without other congenital anomalies or co-occurring with other, non-RRD, congenital anomalies. The prevalence and the types of co-occurring anomalies are variable in the reported studies. The aim of this study was to obtain the prevalence and the types of co-occurring congenital anomalies among cases with RRD in a geographically well-characterized population of 387,067 consecutive births in northeastern France from 1979 to 2007 including live births, stillbirths and terminations of pregnancy. During the study period 83 cases with RRD were ascertained (prevalence of 2.14 per 10,000 births), 63 cases (75.9%) had co-occurring anomalies. Cases with co-occurring anomalies were divided into chromosomal anomalies (18 cases, 22%), syndromic conditions (syndromes and associations, 23 cases, 28%), and multiple congenital anomalies (MCA) (22 cases, 26%). Trisomies 18 and autosomal deletions were the most common chromosomal abnormalities. Thrombocytopenia absent radii syndrome, VACTERL association, Fanconi anemia, Roberts syndrome, and Holt-Oram syndrome were the most common syndromic conditions. Anomalies in the musculoskeletal, the cardiovascular, the urinary, and the orofacial system were the most common co-occurring anomalies in cases with MCA. As cases with RRD have often co-occurring congenital anomalies, a multidisciplinary checkup of these cases is recommended.

13.
Eur J Pediatr ; 2024 Sep 24.
Article in English | MEDLINE | ID: mdl-39316124

ABSTRACT

A series of randomized controlled trials (RCTs) have advanced the therapeutic approaches for vascular anomalies (VA). However, a notable obstacle in applying the findings of these trials to real-world patient care is trial waste (TW). To date, the extent of TW in RCTs for VA is not clear. In June 2024, we searched the ClinicalTrials database using the entity names defined by ISSVA classification as search terms. We documented the data available and then explored PubMed and Scopus for the publication status. Reporting adequacy was evaluated using the CONSORT checklist. Design limitations were analyzed based on bias risk and whether the article referenced a relevant systematic review. One hundred fifty-nine RCTs met the inclusion criteria. The majority of RCTs focused on benign VA (81.1%) and utilized pharmacotherapy (79.9%). Over 90% of these trials were conducted in North America, Europe, and Asia as single-center studies (68.6%), with funding primarily from official institutions (83.7%). The analysis of TW excluded 61 RCTs completed after June 2020 that remained unpublished. Among the remaining 98 RCTs, 53 were published, 41 had adequate reporting, and 16 had design limitations. In total, 67 RCTs exhibited at least one characteristic of TW. The 31 RCTs without waste tended to enroll more participants (P = 0.014) and conduct studies across multiple centers (P < 0.001) and countries (P = 0.022). Multicenter participation (P = 0.028) emerged as an independent protective factor against TW. CONCLUSION: We delineated the features of 159 VA RCTs and revealed that 68.4% of them exhibited TW. The diverse traits of the different TW indicators identified could serve as valuable insights for conducting future VA RCTs more rationally and efficiently. WHAT IS KNOWN: • Currently, a number of RCTs have been conducted on vascular anomalies (VA). However, there has been no study analyzing the situation of trial waste in VA-related RCTs. WHAT IS NEW: • This study is the first to describe the characteristics of VA-related RCTs globally over the past 20 years and has identified a high burden of trial waste in this field. Multicenter participation was an independent protective factor against trial waste.

14.
Surg Radiol Anat ; 2024 Sep 24.
Article in English | MEDLINE | ID: mdl-39316145

ABSTRACT

PURPOSE: The variable positions of the appendix can mislead surgeons and physicians to a wrong diagnosis. When appendicitis happens in subhepatic caecum, it can be misdiagnosed and can lead to severe complications during surgical procedures. Therefore, this study aimed to understand the histomorphometric development of the appendix and caecum and to identify when lymphoid follicles appear in the appendix during fetal life. METHODS: The study was conducted on a total of 50 fetuses. The caecum and appendix were carefully dissected. Their position and various measurements were observed. Afterwards, the appendix was taken out for histological processing. All three layers, mucosa, submucosa, and muscularis externa were measured using Image Analyzer Software Image Pro Premiere 9.1, and the appearance of lymphoid follicles was also examined. Results were analyzed using SPSS statistical software. RESULTS: During the 1st, 2nd, and 3rd trimesters the most common caecum type was type 1: as a lengthy tube, type 3: The lateral wall expanded more, thus it has an asymmetric saccule, and type 4: adult-like caecum. The caecum was mostly situated in the right lumbar region in the 2nd and 3rd trimesters. In the 1st trimester, it was subhepatic in position. The most common position of the appendix was 11 o'clock in 1st and 3rd trimesters. 2nd trimester's most common position of the appendix was 12 o'clock. The thickness of the mucosa, submucosa, and the muscularis externa increases as the trimester increases. The lymphoid follicles have appeared during the 2nd trimester. CONCLUSION: The knowledge from this study will be useful in the diagnosis and treatment of malformations, pathology, and anomalies of the caecum and appendix due to congenital causes.

15.
Radiol Case Rep ; 19(12): 5575-5578, 2024 Dec.
Article in English | MEDLINE | ID: mdl-39296745

ABSTRACT

Ureteropelvic junction obstruction (UPJO) is a pathological condition characterized by obstruction of the junction between the renal pelvis and ureter, often resulting in dilatation of the renal collecting system. Aberrant accessory vessels or early branching of the inferior pole vessels are the most common causes of extrinsic UPJO. The inferior mesenteric artery has not been reported as a common cause of UPJO. Here, we report the case of a 7-year-old patient with UPJO and an anomalous inferior mesenteric artery. The patient was initially diagnosed with congenital uropathy during the evaluation for primary enuresis.

16.
Neonatology ; : 1-11, 2024 Sep 19.
Article in English | MEDLINE | ID: mdl-39299217

ABSTRACT

INTRODUCTION: Compromised neonatal intensive care unit neonates are at risk of acquiring late-onset infections (late-onset sepsis [LOS]). Neonates born with congenital anomalies (CAs) could have an additional LOS risk. METHODS: Utilising the population-based Australian and New Zealand Neonatal Network data from 2007 to 2017, bacterial LOS rates were determined in very preterm (VPT, <32 week), moderately preterm (MPT, 32-36 weeks), and term (FT, 37-41 weeks) neonates with or without CA. Stratified by major surgery, the association between CA and bacterial LOS was evaluated. RESULTS: Of 102,808 neonates, 37.7%, 32.8%, and 29.6% were born VPT, MPT, and FT, respectively. Among these, 3.4% VPT, 7.5% MPT, and 16.2% FT neonates had CA. VPT neonates had the highest LOS rate (11.1%), compared to MPT (1.8%) and FT (1.8%) neonates. LOS rates were higher in CA neonates than those without (8.2% versus 5.1% adjusted relative risk [aRR] 1.67, 95% confidence interval [CI]: 1.45-1.92). Neonates with surgery had a higher LOS rate (14.2%) than neonates without surgery (4.4%, p < 0.001). Among the neonates without surgery, CA neonates had consistently higher LOS rates than those without CA (VPT 14.3% vs. 9.6% [aRR 1.32, 95% CI: 1.11-1.57]; MPT 4% vs. 0.9% [aRR 4.45, 95% CI: 3.23-6.14]; and FT 2% vs. 0.7% [aRR 2.87, 95% CI: 1.97-4.18]). For the neonates with surgery, CAs were not associated with additional LOS risks. CONCLUSION: Overall, we reported higher rates of LOS in neonates with CA compared to those without CA. Regardless of gestation, CA was associated with an increased LOS risk among non-surgical neonates. Optimisation of infection prevention strategies for CA neonates should be explored. Future studies are needed to evaluate if the infection risk is caused by CA or associated complications.

17.
Dev Dyn ; 2024 Sep 20.
Article in English | MEDLINE | ID: mdl-39301774

ABSTRACT

BACKGROUND: Salamanders are the only tetrapods that exhibit the ability to fully regenerate limbs. The axolotl, a neotenic salamander, has become the model organism for regeneration research. Great advances have been made providing a detailed understanding of the morphological and molecular processes involved in limb regeneration. However, it remains largely unknown how limb regeneration varies across salamanders and how factors like variable life histories, ecologies, and limb functions have influenced and shaped regenerative capacities throughout evolution. RESULTS: This study focuses on six species of plethodontid salamanders representing distinct life histories and habitats. Specimens were examined for regeneration ability after bite injuries as well as after controlled amputations. Morphological investigations revealed great regenerative abilities in all investigated species and frequent anatomical limb anomalies. Correlations were observed with respect to speed of regeneration and habitat. CONCLUSIONS: Investigating regeneration in non-model salamander taxa is essential for disentangling shared features of the regeneration process versus those that may be more taxon-specific. Gaining insights into variable aspects of regeneration under natural conditions and after conspecific biting rather than controlled amputations adds important new datapoints for understanding the evolutionary framework of regeneration and provides a broader context for interpreting findings made in the model organism axolotl.

18.
Inn Med (Heidelb) ; 2024 Sep 20.
Article in German | MEDLINE | ID: mdl-39302439

ABSTRACT

A 42-year-old patient with return of spontaneous circulation (ROSC) following an out-of-hospital cardiac arrest was referred to the authors' emergency department. The initial rhythm was ventricular fibrillation. A computed tomography scan and subsequent coronary angiography revealed anomalous left coronary artery from the pulmonary artery (ALCAPA) syndrome as the cause of this condition. A thickened right coronary artery with significant collateral blood flow to the left coronary artery was observed. After initial treatment in the authors' intensive care unit, surgical intervention was performed. The patient was discharged from hospital without any neurological damage.

19.
J Ultrasound ; 2024 Sep 20.
Article in English | MEDLINE | ID: mdl-39302599

ABSTRACT

Congenital absence of ribs is a quite unusual entity that can present as an isolated finding or as a part of syndrome. Rib defects may be associated with maldevelopment of vertebral column or thoracic musculature. The congenital rib agenesis has been reported postnatally in a few case reports. We present a case of a primigravida referred for an anomaly scan at 20-weeks gestational age. On ultrasonography (USG), the fetus showed unilateral absence of left 5th-8th ribs with associated dysmorphism of other ipsilateral ribs, a right-sided lumbar supernumerary rib, and vertebral segmentation anomalies. The bony defects were well demonstrated by three-dimensional (3D) transabdominal USG. In our case, the unilateral rib agenesis was detected antenatally with no such report published earlier in the scientific literature.

20.
J Nephrol ; 2024 Sep 20.
Article in English | MEDLINE | ID: mdl-39302621

ABSTRACT

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most common causes of kidney diseases in children. Previous studies on CAKUT etiologies have been predominantly focused on non-modifiable genetic risk factors. The existing nongenetic studies are limited by lack of comprehensive investigation of potentially modifiable risk factors and the inability to distinguish among various phenotypes of CAKUT. Therefore, this study aimed to comprehensively evaluate both maternal and fetal risk factors of CAKUT, sorted by disease phenotype. METHODS: A prospective birth cohort study was conducted among 10,179 women who delivered a singleton live newborn in Lanzhou, China, between 2010 and 2012. Face-to-face interviews were conducted among the participants within 1-3 days after delivery using standard questionnaires to collect information on maternal demographics and characteristics. All newborns underwent postnatal renal ultrasonographic screening during their routine 1-month checkup. Clinical data, including birth outcomes and maternal complications, were confirmed by reviewing their medical records. Maternal and fetal risk factors were compared in children with and without CAKUT. Multivariable logistic regression analysis was performed to identify independent risk factors of CAKUT and their phenotypes, respectively. RESULTS: A total of 489 (4.8%) cases of CAKUT were identified. Logistic regression revealed that maternal overweight (pre-pregnancy), gestational diabetes, preterm birth, and low birth weight were independent risk factors for CAKUT. Maternal overweight increased the risk of vesicoureteral reflux (VUR, odds ratio (OR) = 1.441, 95% confidence interval (CI) 1.010-2.057) and posterior urethral valves (PUV, OR = 1.868, 95% CI 1.074-3.249). Gestational diabetes increased the risk of ureteropelvic junction obstruction (UPJO, OR = 1.269; 95% CI 1.044-1.543) and posterior urethral valves (OR = 1.794; 95% CI 1.302-2.474). Preterm birth increased the risk of ureteropelvic junction obstruction (OR = 1.056; 95% CI 1.004-1.111). CONCLUSIONS: Our study identified various risk factors associated with different CAKUT phenotypes, stressing the importance of separate analyses for each phenotype. Our findings may provide helpful guidance on developing targeted and effective CAKUT prevention programs in the future.

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