Serious Concern of Congenital Zika Syndrome (CZS) in India: A Narrative Review.

Congenital Zika syndrome (CZS) is a major concern in India and highlights the multifaceted challenges posed by the Zika virus (ZIKV). The alarming increase in CZS cases in India, a condition that has serious effects on both public health and newborns, has raised concerns. This review highlights the importance of raising concern and awareness and taking preventive measures by studying the epidemiology, clinical symptoms, and potential long-term consequences of CZS. The review also contributes to worldwide research and information sharing to improve the understanding and prevention of CZS. As India deals with the changing nature of CZS, this thorough review is an important tool for policymakers, health workers, and researchers to understand what is happening now, plan for what to do in the future, and work together as a team, using medical knowledge, community involvement, and study projects to protect newborns' health and reduce the public health impact of these syndromes.

Risk of teratogenicity in continued pregnancy after gestational exposure to mifepristone and/or misoprostol: a systematic review and meta-analysis.

PURPOSE: This meta-analysis aimed to comprehensively assess the teratogenic risk to offspring associated with continuing pregnancy after administering mifepristone and/or misoprostol during gestation. METHODS: We conducted a systematic search of multiple databases, including PubMed, Web of Science, Embase, Cochrane, CNKI, and CBM, from their inception to February 2024, with no language restrictions. We included cohort and case-control studies that analyzed the teratogenic effects of mifepristone and/or misoprostol on fetuses and newborns. Quality assessment was performed using the Newcastle-Ottawa Scale (NOS). The odds ratios (OR) from individual studies were combined using meta-analysis. Sensitivity testing and heterogeneity analysis were conducted. RESULTS: A total of 13 studies were eligible for inclusion, comprising 5193 cases of congenital malformations and 12,232 controls. CONCLUSION: Our findings indicated that the use of misoprostol during early pregnancy increased the risk of congenital abnormalities in offspring (OR = 2.69; 95% CI: 1.57-4.62). However, the potential teratogenic effect of mifepristone during pregnancy cannot be ruled out. Additionally, the use of mifepristone and/or misoprostol has been linked to a higher risk of certain congenital anomalies, such as hydrocephalus (OR = 3.41; 95% CI: 1.17-9.97), Möbius syndrome (OR = 26.48; 95% CI: 11.30-62.01), and terminal transverse limb defects (OR = 10.75; 95% CI: 3.93-29.41). (PROSPERO, CRD42024522093, 03182024).

Single umbilical artery and associated birth defects in perinatal autopsies: prenatal diagnosis and management.

Background: The umbilical cord forms the connection between the fetus and the placenta at the feto-maternal interface and normally comprises two umbilical arteries and one umbilical vein. In some cases, only a single umbilical artery (SUA) is present. This study was conducted to evaluate associations between SUA and other congenital malformations discovered in perinatal autopsies and to ascertain the existence of preferential associations between SUA and certain anomalies. Methods: We evaluated records of all fetuses sent for autopsy to the Department of Pathology during the 10-year period from 2013 through 2022 (n = 1,277). The data were obtained from the hospital's pathology laboratory records. The congenital anomalies were grouped by organ or system for analysis and included cardiovascular, urinary tract, nervous system, gastrointestinal tract, musculoskeletal, and lung anomalies. Results: A SUA was present in 8.61% of the autopsies. The gestational age of the affected fetuses ranged between 13 to 40 weeks. An SUA presented as an isolated single anomaly in 44 cases (3.4%). Of the 110 SUA cases, 60% had other congenital anomalies. There was a significant association between birth defects and SUAs (p < .001). Strong associations between SUA and urinary tract, lung, and musculoskeletal anomalies were observed. Conclusions: A SUA is usually seen in association with other congenital malformations rather than as an isolated defect. Therefore, examination for associated anomalies when an SUA is detected either antenatally or postnatally is imperative. The findings of this study should be helpful in counseling expectant mothers and their families in cases of SUA.

Tubular adenoma arising in tubular colonic duplication: a case report.

Colonic duplication constitutes a rare congenital anomaly, characterized by the presence of hollow cystic or tubular structures exhibiting an epithelial-lined intestinal wall. Diagnostic challenges persist due to its low incidence and manifestation of nonspecific symptoms such as abdominal pain or constipation, resulting in a reluctance to pursue surgical resection. As associated malignancies in colonic duplication are rare, the inherent malignant potential of these anomalies remains undetermined. Additionally, despite reported instances of associated malignancies in colonic duplication, there is an absence of reports in the literature detailing tubular adenoma within these cases. The histologic features of the presented case are particularly noteworthy, situated at the precancerous stage, intimating potential progression towards adenocarcinoma within colonic duplication.

Cerebrofacial venous metameric syndrome mimicking vein of Galen aneurysmal malformation.

Cerebrofacial venous metameric syndrome (CVMS) is a complex low-flow vascular malformation affecting bone and soft tissues, including brain, dura mater, and eye. We show images of CVMS in an 18-month-old boy presenting facial venous malformations, developmental venous anomalies, dural sinus malformations, and dilated great cerebral vein, suggesting a vein of Galen aneurysmal malformation. Although Sturge-Weber syndrome is the most known form of CVMS, its presentations are variable and include several venous malformations. Recognizing the various manifestations of CVMS is necessary for adequate screening, treatment, and follow-up.

Atrial and Ventricular Arrhythmia in Adults With Shone Complex: A Single-Center Cohort Study.

Background: Multilevel obstruction in left ventricular inflow and outflow predisposes to arrhythmias in Shone's complex (SC). Objectives: The purpose of this study was to study the prevalence and outcomes (heart failure [HF] hospitalization, cardiac transplant, death) of cardiac arrhythmias in adults with SC. Methods: Adults with SC (defined as ≥2 lesions out of supramitral ring, parachute mitral valve, subvalvular/valvular aortic stenosis (AS), and aortic coarctation) seen at Mayo Clinic between January 1999 and March 2020 were identified and evaluated for the presence of sustained atrial fibrillation, atrial flutter, and ventricular arrhythmias (VA). Kaplan-Meier survival analysis was used to calculate the occurrence of these arrhythmias. Results: Seventy-three patients with SC (mean age at first visit 33 ± 13 years) were identified. Most common anomalies were valvular AS (88%), coarctation (85%), parachute mitral valve (44%), subvalvular AS (44%), and supramitral ring (25%). Atrial arrhythmias were diagnosed in 24 patients (33%) at a mean age of 34.6 ± 12.7 years. Patients with atrial fibrillation and atrial flutter had higher number of surgeries, left atrial size, right ventricular systolic pressure, and HF hospitalizations. A rhythm control approach was used in majority of patients (75% on antiarrhythmic drugs and 50% underwent catheter ablation). Sustained VA occurred in 6 of 73 patients of whom 4 had an ejection fraction <40%. Death and cardiac transplantation occurred in 11 and 3 patients, respectively, during a median follow-up of 7.3 ± 6.0 years. Conclusions: In adults with SC, atrial arrhythmias occurred in one-third of patients, were associated with more HF hospitalizations, and frequently required rhythm control. Prevalence of sustained VA was 8% and implantable cardioverter-defibrillator implantation should be considered in those with reduced ejection fraction.

Congenital Vascular and Lymphatic Diseases.

Over the past several centuries, the integration of contemporary medical techniques and innovative technologies, like genetic sequencing, have played a pivotal role in enhancing our comprehension of congenital vascular and lymphatic disorders. Nonetheless, the uncommon and complex characteristics of these disorders, especially considering their formation during the intrauterine stage, present significant obstacles in diagnosis and treatment. Here, we review the intricacies of these congenital abnormalities, offering an in-depth examination of key diagnostic approaches, genetic factors, and therapeutic methods.

Iron deficiency in patients with a Fontan circulation and its impact on exercise capacity.

BACKGROUND: Iron deficiency (ID) has been reported in patients with congenital heart disease. There is, however, a scarcity of data on its prevalence in patients with a Fontan circulation. The aim of this study is to investigate the prevalence of ID in Fontan patients and to investigate the association between ID and exercise capacity in this population. METHODS AND RESULTS: Blood count and haematological parameters were determined in plasma of 61 Fontan patients (51% female, mean age 29±9 years). ID was defined as transferrin saturation (TSAT) ≤19.8%. The prevalence of ID was 36% (22/61 patients). Especially among women, the diagnosis of ID was highly prevalent (52%) despite normal haemoglobin levels (153.7±18.4 g/L). Mean ferritin levels were 98±80 µg/L and mean TSAT levels were 22%±12%. Cardiopulmonary exercise testing was performed in 46 patients (75%). Patients with ID had a lower peak oxygen uptake (V̇O2peak) (1397±477 vs 1692±530 mL/min; p=0.039), although this relationship was confounded by sex. The presence of ID increased the likelihood of not achieving a respiratory exchange ratio (RER) ≥1.1 by 5-fold (p=0.035). CONCLUSION: ID is highly prevalent among patients with a Fontan circulation. V̇O2peak is lower in patients with ID. Fontan patients with ID are less likely to achieve an RER≥1.1 during cardiopulmonary exercise testing.

Proteus Syndrome: A Rare Congenital Disorder.

An uncommon congenital hamartomatous disorder called Proteus syndrome is characterized by multifocal tissue expansion originating from all three germinal layers. Diagnosis mainly relies on clinical and radiological criteria. Here, we present a case of a 13-year-old female child exhibiting bony, soft tissue, and vascular abnormalities, along with developmental delay. We conclude by highlighting the importance of imaging studies in conjunction with physical examination, which are characterized by general and specific criteria to diagnose this rare condition until a specific gene test becomes available.

A case of a blind-ending right ureter first identified intraoperatively during total laparoscopic hysterectomy for uterine adenomyosis and fibroids in a woman with severe ipsilateral kidney hypoplasia.

Detecting ureteral injury-a serious intraoperative and postoperative complication of hysterectomy-is a high level of difficulty if ureteral malformations are not identified preoperatively. A 39-year-old Japanese woman underwent total laparoscopic hysterectomy for uterine adenomyosis. During surgery, ureteral peristalsis was absent on the right side, whereas the left ureter was visible under the peritoneum. Transabdominal ultrasonography failed to locate the right kidney, with cystoscopy showing no flow from the right ureteral orifice. The ureteral tunnel was identified by tracing the vascular path of the internal iliac and uterine arteries, confirming that the corded tissue was the right ureter. Postoperative contrast-enhanced CT revealed severe right kidney atrophy with no contrast effect or connected ureter. Based on intraoperative laparoscopy and postoperative examination, a diagnosis of a unilateral ureteral scar with a proximal blind end and ipsilateral renal dysgenesis was established, marking the first reported instance of endoscopic visualization of this anomaly. In addition to normal pelvic anatomy, surgeons must consider embryological abnormalities to prevent intraoperative complications.

Preconceptional paternal obesity may increase the risk of congenital urogenital anomalies in offspring: A case-control study.

BACKGROUND: Congenital urogenital anomalies affect 4-60 per 10,000 births. Maternal obesity, along with other risk factors, is well documented as a contributing factor. However, the impact of paternal obesity on risk is unclear. Obesity is prevalent among men of reproductive age, highlighting the need for further research into the potential association between paternal obesity and offspring congenital urogenital anomalies. OBJECTIVES: This study aims to determine the association between paternal obesity and the risk of congenital urogenital malformations in offspring. METHODS: Case-control study conducted on 179 newborns (91 cases, 88 controls) selected from the Notre Dame des Secours-university hospital database. Cases were identified as newborns presenting at least one congenital urogenital abnormality, defined as developmental anomalies that can result in a variety of malformations affecting the kidneys, ureters, bladder, and urethra. Controls were identified as newborns without any congenital abnormalities. The exclusion criteria were maternal obesity, infections during pregnancy, chronic diseases, prematurity, growth retardation, assisted reproductive technologies for conception, substance abuse, down syndrome, and other malformations. Data were collected through phone interviews, medical records, and questionnaires. In this study, the exposure was the preconceptional paternal body mass index (BMI), which was calculated based on self-reported height and weight. According to guidelines from the US Centers for Disease Control and Prevention (CDC), individuals are considered to be in the healthy weight range if their BMI (kg/m2) is between 18.5 and < 25. They are classified as overweight if their BMI is ≥ 25, obese class I if their BMI is between 30 and < 35, obese class II if their BMI is between 35 and < 40, and obese class III if their BMI is 40 or higher. Logistic regression analysis was employed to quantify the association between paternal obesity and urogenital conditions in offspring. RESULTS: Significant differences in median (minimum-maximum) paternal BMI values were noted between the cases and controls at the time of conception (cases: 27.7 (43-20.1), controls: 24.8 (40.7-19.6); p < 0.0001). Logistic regression analysis confirmed that at the time of conception, compared to normal-weight fathers, overweight fathers displayed a heightened risk of offspring congenital malformations, with an odds ratio (OR) of 4.44 (95% CI = 2.1-9.1). Similarly, fathers categorized as obese Class I at conception had approximately eight times higher odds (OR = 8.62, 95% CI = 2.91-25.52) of having offspring with urogenital conditions compared to normal-weight fathers. Additionally, fathers classified as obese Class II at conception exhibited 5.75 times higher odds (OR = 5.75, 95% CI = 0.96-34.44) of having offspring with urogenital conditions in comparison to normal-weight fathers. DISCUSSION AND CONCLUSION: We found that the risk of urogenital malformations increased with paternal BMI during the preconceptional period. The findings suggest the importance of addressing paternal obesity in efforts to reduce the risk of urogenital congenital malformations in offspring.

Globe-shaped central incisors in a patient with otodental syndrome.

Hearing impairments and dental anomalies are found in many genetic syndromes. Otodental syndrome is a rare combination of hearing loss and the presence of a pathognomonic dental phenotype known as globodontia, in which the tooth exhibits an abnormal globe shape. There is no histologic evidence of structural anomalies in the enamel, dentin, or pulp. This report describes the case of a 12-year-old boy who had hearing loss and 2 supernumerary globe-shaped teeth in the sites of the permanent maxillary central incisors. The diagnosis of otodental syndrome was established based on the clinical, radiographic, and histologic features, but other conditions, including dens evaginatus, talon cusp, dens invaginatus, and compound odontoma, should be included in the differential diagnosis. Dental treatment consisted of the extraction of both anomalous teeth, allowing spontaneous eruption of the impacted permanent central incisors. Early diagnosis of otodental syndrome permits a multidisciplinary approach to prevent other pathologic conditions, reduce functional damage, and avoid social problems.

Craniorachischisis in a 33-week-old Female Fetus: A Case Report.

We report the case of a 33-week-old female fetus born with craniorachischisis to a gravida 5, para 4 (3104) mother with no previous history of conceiving a child with a neural tube defect. Craniorachischisis is characterized by anencephaly and an open defect extending from the brain to the spine and is the most severe and fatal type of neural tube defect. Although the cause of neural tube defects is hypothesized to be multifactorial and is usually sporadic, the risk is increased in neonates born to mothers with a family history or a previous pregnancy with neural tube defect, both of which are not present in the index case. This case is unique in that only during the fifth pregnancy did the couple conceive a child with a neural tube defect, emphasizing that folic acid supplementation, the sole preventive measure proven to decrease the risk of neural tube defects, remains to be important in the periconceptual period for all women of childbearing age.

"The People Criticized Me and Insulted Me Due to Having a Child with Defect": Experiences of Somali Parents of Children with Anorectal Malformation.

Background: Treatment of anorectal malformations (ARM) and the management of clinical outcomes are challenging for families. While most studies focus on mothers suffering from care burden, high stress, and low quality of life, there is limited knowledge of what fathers of children with ARM experience; therefore, this study aimed to examine how both mothers and fathers have experience caring for children with ARM and how beliefs and cultural issues affect the perception of congenital anomalies. Methods: A qualitative design. Consolidated criteria for reporting the qualitative research guidelines were used in this study. The guidelines for thematic analysis were followed for data analysis. Results: Ten mothers and six fathers were interviewed, and their mean age was 32.5 ± 4.2 years. Of the 75% (n = 12) illiterate and 93.7% (n = 15) had an expanded family type, all their religious affiliations were Muslim. The four main themes were (1) ambiguity, (2) challenges, (3) stigma, and (4) coping, which were determined in line with the results of the data analysis of parents' views on having and caring for children with ARM. Conclusion: In this study, many Somali parents reported that they lacked disease and treatment knowledge, physical exhaustion, and some difficulties related to a lack of access to the hospital because of living in rural areas, caring for the child, and dealing with long-term complications, colostomy, anal dilatation, and enema before or after anoplasty. While all parents mentioned that having a child with ARM was a fate, it was seen as punishment by their close social environment. Consequently, this study could serve as a foundation for planning comprehensive healthcare and physical and psychosocial support for multidisciplinary health professionals.

An ESHG-ESHRE survey on the current practice of expanded carrier screening in medically assisted reproduction.

STUDY QUESTION: What is the current practice and views on (expanded) carrier screening ((E)CS) among healthcare professionals in medically assisted reproductive (MAR) practices in Europe? SUMMARY ANSWER: The findings show a limited support for ECS with less than half of the respondents affiliated to centres offering ECS, and substantial variation in practice between centres in Europe. WHAT IS KNOWN ALREADY: The availability of next-generation sequencing, which enables testing for large groups of genes simultaneously, has facilitated the introduction and expansion of ECS strategies, currently offered particularly in the private sector in the context of assisted reproduction. STUDY DESIGN, SIZE, DURATION: A cross-sectional survey evaluating practice and current views among professionals working in MAR practice in different European countries was designed using the online SurveyMonkey tool. The web-based questionnaire included questions on general information regarding the current practice of (E)CS in MAR and questions on what is offered, to whom the test is offered, and how it is offered. It consisted mostly of multiple-choice questions with comment boxes, but also included open questions on the respondents' attitudes/concerns relevant to (E)CS practice, and room to upload requested files (e.g. guidelines and gene panels). In total, 338 responses were collected from 8 February 2022 to 11 April 2022. PARTICIPANTS/MATERIALS, SETTING, METHODS: The online survey was launched with an invitation email from the ESHRE central office (n = 4889 emails delivered) and the European Society of Human Genetics (ESHG) central office (n = 1790 emails delivered) sent to the ESHRE and ESHG members, and by social media posts. The survey was addressed to European MAR centres or gamete banks and to centres located in non-European countries participating in the European IVF-monitoring Consortium. Two reminder emails were sent. After exclusion of 39 incomplete responses received (e.g. only background information), 299 respondents from 40 different countries were included for analyses. MAIN RESULTS AND THE ROLE OF CHANCE: Overall, 42.5% (127/299) of respondents were affiliated to centres offering ECS. The perceived responsibility to enable prospective parents to make informed reproductive decisions and preventing suffering/burden for parents were the main reasons to offer ECS. A single ECS panel is offered by nearly 45% (39/87 received answers) of the centres offering ECS, 25.3% (22/87) of those centres offer a selection of ECS panels, and 29.9% (26/87) offer whole exome sequencing and a large in silico panel. Different ranges of panel sizes and conditions were included in the ECS panel(s) offered. Most of the respondents (81.8%; 72/88 received answers) indicated that the panels they offer are universal and target the entire population. Pathogenic variants (89.7%; 70/78 received answers), and to a lesser extent, likely pathogenic variants (64.1%%; 50/78 received answers), were included in the ECS report for individuals and couples undergoing MAR with their own gametes. According to 87.9% (80/91 received answers) of the respondents, patients have to pay to undergo an ECS test. Most respondents (76.2%; 61/80 received answers) reported that counselling is provided before and after the ECS test. Preimplantation genetic testing, the use of donor gametes, and prenatal diagnostic testing were the three main reproductive options discussed with identified carrier couples. The main reason, according to the respondents, for not offering ECS in their centre, was the lack of professional recommendations supporting ECS (52.5%; 73/139 received answers) and the high cost for couples or reimbursement not being available (49.6%; 69/139). The challenges and moral dilemmas encountered by the respondents revolved mainly around the content of the offer, including the variants classification and the heterogeneity of the panels, the counselling, and the cost of the test. LIMITATIONS, REASONS FOR CAUTION: Although the total number of respondents was acceptable, the completion rate of the survey was suboptimal. In addition, the heterogeneity of answers to open-ended questions and the ambiguity of some of the answers, along with incomplete responses, posed a challenge in interpreting survey results. It is also plausible that some questions were not easily understood by the respondents. For this reason, response and non-response bias are acknowledged as further limitations of the survey. WIDER IMPLICATIONS OF THE FINDINGS: The results of this survey could aid in identifying potential challenges or areas for improvement in the current practice of ECS in the MAR field and contribute to the discussion on how to address them. The results underline the need to stimulate a more knowledge-based debate on the complexity and the pros and cons of a possible implementation of ECS in MAR. STUDY FUNDING/COMPETING INTEREST(S): All costs relating to the development process were covered from European Society of Human Reproduction and Embryology and European Society of Human Genetics funds. There was no external funding of the development process or manuscript production. A.C. is full-time employee of Juno Genetics. L.H. declared receiving a research grant during the past 36 months from the Netherlands Organisation for Health Research and Development. She has also participated in a Health Council report of the Netherlands on preconception carrier screening and collaborated with the VSOP Dutch Genetic Alliance (patient umbrella organization on rare and genetic disorders). L.H. and C.v.E. are affiliated with Amsterdam University Medical Centre, a hospital that offers ECS in a non-commercial setting. R.V. received honoraria for presentations from Merck Academy and is unpaid board member of the executive committee of the Spanish Fertility Society. The other authors had nothing to disclose. TRIAL REGISTRATION NUMBER: N/A.

Eventos adversos em crianças submetidas a cirurgias orofaciais / Adverse events in children submitted to orofacial surgery / Eventos adversos en niños sometidos a cirugía orofacial

Objetivo: Identificar os eventos adversos no pós-operatório imediato de queiloplastia e/ou palatoplastia em crianças e comparar os eventos identificados aos notificados ao Núcleo de Segurança do Paciente. Métodos: Estudo descritivo, retrospectivo e quantitativo, realizado em um hospital público e terciário brasileiro. Os dados foram coletados por meio da descrição nos registros de enfermagem e comparados aos notificados ao Núcleo de Segurança do Paciente, referente a junho e dezembro de 2019. Os resultados foram submetidos a análise estatística descritiva. Resultados: A amostra constou de 203 crianças, das quais 51% (n=103) apresentaram evento adverso. Foram identificados 176 eventos adversos, de 8 tipos, com prevalência da laringite pós-extubação (n=50; 28%), edema de língua (n=34; 19%) e lesão de comissura labial (n=25; 14%). Destes, apenas 5% (n=9) foram notificados ao Núcleo de Segurança do Paciente. Conclusão: Os eventos adversos prevalentes se relacionaram a cavidade oral e tecidos adjacentes, e a subnotificação foi expressiva. (AU)

Objective: To identify adverse events in the immediate postoperative period of cheiloplasty and/or palatoplasty in children and compare the identified events to those notified to the Patient Safety Center. Methods: Descriptive, retrospective and quantitative study, carried out in a Brazilian public and tertiary hospital. Data were collected through descriptions in nursing records and compared to those notified to the Patient Safety Center, referring to June and December 2019. The results were subjected to descriptive statistical analysis. Results: The sample consisted of 203 children, of which 51% (n=103) had an adverse event. A total of 176 adverse events of 8 types were identified, with prevalence of post-extubation laryngitis (n=50; 28%), tongue edema (n=34; 19%) and labral commissure lesion (n=25; 14%). Of these, only 5% (n=9) were notified to the Patient Safety Center. Conclusion: The prevalent adverse events were related to the oral cavity and adjacent tissues, and underreporting was significant. (AU)

Objetivo: Identificar eventos adversos en el postoperatorio inmediato de queiloplastia y/o palatoplastia en niños y comparar los eventos identificados con los notificados al Centro de Seguridad del Paciente. Métodos: Estudio descriptivo, retrospectivo y cuantitativo, realizado en un hospital público y terciario brasileño. Los datos se recolectaron mediante descripciones en registros de enfermería y se compararon con los notificados al Centro de Seguridad del Paciente, referidos a junio y diciembre de 2019. Los resultados fueron sometidos a análisis estadístico descriptivo. Resultados: La muestra estuvo conformada por 203 niños, de los cuales el 51% (n = 103) tuvo un evento adverso. Se identificaron un total de 176 eventos adversos de 8 tipos, con prevalencia de laringitis posextubación (n=50; 28%), edema de lengua (n=34; 19%) y lesión de la comisura del labrum (n=25; 14%). De estos, solo el 5% (n=9) fueron notificados al Centro de Seguridad del Paciente. Conclusion: Los eventos adversos prevalentes se relacionaron con la cavidad bucal y los tejidos adyacentes y el subregistro fue significativo. (AU)

Hemodynamic management of congenital diaphragmatic hernia: the role of targeted neonatal echocardiography.

Congenital diaphragmatic hernia (CDH) is a major congenital anomaly, resulting from the herniation of abdominal contents into the thoracic cavity, thereby impeding the proper development of the lungs and pulmonary vasculature. CDH severity correlates with a spectrum of pulmonary hypoplasia, pulmonary hypertension (PHT), and cardiac dysfunction, constituting the pathophysiological triad of this complex condition. The accurate diagnosis and effective management of PHT and cardiac dysfunction is pivotal to optimizing patient outcomes. Targeted neonatal echocardiography is instrumental in delivering real-time data crucial for the bespoke, pathophysiology-targeted hemodynamic management of CDH-associated PHT.

A rare case of obstructed hemivagina with uterus didelphys and ipsilateral renal anomaly syndrome.

Obstructed hemivagina and ipsilateral renal anomaly syndrome, also known as Herlyn-Werner-Wunderlich syndrome, represents a rare congenital anomaly characterized by the presence of an obstructed hemivagina with uterus didelphys and concomitant ipsilateral renal abnormalities. Typically, the clinical presentation includes cyclical abdominal pain, vaginal discharge, and/or a vaginal mass occurring post-menarche. Accurate diagnosis requires a high index of suspicion among clinicians, coupled with a comprehensive understanding of the distinctive features associated with this anomaly. Herein, we present the case of a 13-year-old female patient who complained of persistent lower abdominal pain. Magnetic resonance imaging confirmed the diagnosis of obstructed hemivagina and ipsilateral renal anomaly syndrome, and the patient was successfully treated with a laparotomy involving blood aspiration and hysterectomy. This case report highlights the significance of clinical awareness, prompt diagnosis, and timely therapeutic interventions to mitigate the adverse effects and optimize outcomes in individuals affected by obstructed hemivagina and ipsilateral renal anomaly syndrome.

A systematic review of kidney transplantation outcomes in patients with end-stage renal disease due to childhood lower urinary tract malformations.

PURPOSE: Patients with lower urinary tract malformations (LUTM) were suspended from kidney transplantation (KT) programs in the past due to various concerns. Consequently, only a limited number of studies have explored this topic at hand. In this study, our objective was to perform a systematic review (SR) to evaluate the current evidence regarding KT outcomes as well as patient survival (PS), postoperative complications and urinary tract infections (UTI) in individuals with childhood LUTM. METHODS: The search encompassed databases of Web of Science, Medline (via PubMed), and Embase (via Scopus) to identify all studies reporting outcomes on KT for patients with LUTM. The research included articles published in English from January 1995 till September 2023. RESULTS: Of the 2634 yielded articles, 15 met the inclusion criteria, enrolling a total of 284,866 KT patients. There was significantly better 5-year graft survival (GS) in recipients with LUTM compared to the control group (RR, 1.04; 95% CI 1.02-1.06); while GS at 1-year and 10-year, and PS at 1-year, 5-year and 10-year were similar between groups. On the other hand, the postoperative UTI rate was significantly higher in the LUTM group (RR: 4.46; 95% CI 1.89-10.51). However, data on serum creatinine and estimated glomerular filtration rate on follow-up were insufficient. CONCLUSION: GS and PS rates appear to be similar in patients with childhood LUTM and those with normal lower urinary tract functions. Despite a higher postoperative UTI rate within this patient group, it appears that this has no effect on GS rates.

Adaptability in the Midst of Anatomical Challenges: A Case of Situs Inversus Totalis in Laparoscopic Cholecystectomy.

Situs inversus totalis (SIT) is a rare and nonfatal congenital anomaly where there is a complete inversion of a patient's visceral organs. Throughout the patient's lifetime, they will encounter various challenges due to their unique anatomic variation. In this case, we report the treatment of symptomatic cholelithiasis in a 33-year-old female with comorbid SIT who underwent a laparoscopic cholecystectomy without postoperative complications. Despite the added layer of complexity in her presentation, we were able to perform the cholecystectomy laparoscopically with slight modifications to better accommodate her anatomical mirroring. Modifications made in the form of bed positioning, trochar placement, and surgical team positioning prove that strategic operative planning is essential to optimizing outcomes for this unique patient population.