Familial Chiari malformation: a systematic review and illustrative cases.

OBJECTIVE: Chiari malformations (CMs) are a group of congenital or acquired disorders characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa. CM is considered largely sporadic-however, there exists growing evidence of transmissible genetic underpinnings. The purpose of this systematic review of all familial studies of CM was to investigate the existence of an inherited component and provide recommendations to manage and monitor at-risk family members. METHODS: This paper includes the following: 1) a unique case report of dizygotic twins who presented at the Toronto Western Hospital Spinal Cord Clinic with symptomatic CM type 1 (CM-1) and syringomyelia; and 2) a systematic review of familial CM. The EMBASE and MEDLINE databases were searched on June 27, 2023, in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Only articles in the English language concerning the diagnosis of CM in > 1 human family member presented as a case study, case series, or literature review were included. RESULTS: Among the 29 articles included in the final analysis, a total of 34 families with CM were analyzed. An average of 3 cases of CM were found per family among all generations. Eighty-one cases (88%) reported CM-1, whereas the other 11 (12%) cases reported either CM-0, CM-1.5, or tonsillar ectopia. A syrinx was present in 37 (54%) cases, with 14 (38%) of these patients also reporting a skeletal abnormality, the most common comorbidity. Most family members diagnosed with CM were siblings (18; 35%), followed by monozygotic twins/triplets (12; 23%). CONCLUSIONS: Patients most often presented with headaches, sensory disturbances, or generalized symptoms. Overall, there exists mounting evidence for a hereditary component of CM. It is unlikely to be explained by a classic mendelian inheritance pattern, but is rather a polygenic architecture influenced by variable penetrance, cosegregation, and entirely nongenetic factors. For first-degree relatives of those affected by CM, the authors' findings may influence clinicians to conduct closer clinical and radiographic monitoring, promote patient education, and consider earlier genetic testing.

Windows of sensitivity for risk of adverse birth outcomes related to gestational PM2.5 exposure: Evidence from a natural experiment.

While numerous studies have associated maternal exposure to PM2.5 with adverse birth outcomes, findings remain inconsistent and difficult to generalize. We aimed to investigate the causal relationship and window of sensitivity between gestational exposure to PM2.5 and birth outcomes. We leveraged high-resolution satellite data to quantify gestational PM2.5 exposure at the individual level, along with a combined model to determine daily relative risks (RRs) of birth outcomes in COVID-19 prelockdown and lockdown groups. RRs between the two groups were further compared using a longitudinal pre-post non-experimental design to identify sensitivity windows of adverse birth outcomes. A total of 73,781 pregnant women from the COVID-19 prelockdown group and 6267 pregnant women from the lockdown group were included for analysis. The daily mean PM2.5 concentrations in the lockdown group decreased by 21.7% compared to the prelockdown group. During the first trimester, every 10 µg/m3 increase in PM2.5 significantly increased the risk of congenital abnormalities of major organs such as the cardiovascular system, gastrointestinal tract, nervous system, urinary system, and respiratory system. Moreover, gestational exposure to PM2.5 during the first trimester was associated with higher risks of premature delivery and term low birth weight. While PM2.5 exposure during the second trimester was positively correlated with macrosomia. Gestational exposure to PM2.5 is associated with increased risks of various adverse birth outcomes with specific sensitive windows. We demonstrated that gestational exposure to PM2.5 increased risks of various adverse birth outcomes with specific window of sensitivity through the natural experiment design. Our findings underscore the urgent need for policies and initiatives targeting PM2.5 reduction, especially during critical periods of pregnancy.

No additional risk of congenital anomalies after first-trimester dydrogesterone use: a systematic review and meta-analysis.

STUDY QUESTION: Is exposure to dydrogesterone a risk factor for congenital anomalies when given in the first trimester for recurrent/threatened pregnancy loss or as luteal support in assisted reproductive technology (ART)? SUMMARY ANSWER: Dydrogesterone, when given in the first trimester for recurrent/threatened pregnancy loss or as luteal support in ART, is not a relevant additional risk factor for congenital anomalies. WHAT IS KNOWN ALREADY: Despite large clinical trials and meta-analyses that show no association between dydrogesterone and congenital anomalies, some recently retracted publications have postulated an association with teratogenicity. Dydrogesterone is also often rated as less safe than bioidentical progestins. STUDY DESIGN SIZE DURATION: A systematic review was conducted according to a pre-specified protocol with searches on Medline, Embase, Cochrane Central Register of Controlled Trials (CENTRAL), and Clinicaltrials.gov. The search was limited to human studies, with no restrictions on language, geographical region, or date. The search algorithm used a PICO (Population, Intervention, Comparison, Outcome)-style approach combining both simple search terms and medical subject heading terms. As congenital anomalies are mostly reported as secondary outcomes, the search term 'safety' was added. PARTICIPANTS/MATERIALS SETTING METHODS: Interventional study and observational study (OS) designs were eligible for inclusion. Inclusion criteria were: women >17 years old treated for threatened miscarriage, recurrent pregnancy loss, and/or ART; the use of dydrogesterone in the first trimester compared with placebo, no treatment or other interventions; and reporting of congenital anomalies in newborns or infants ≤12 months old (primary outcome). Two authors (A.K., M.R.N.) independently extracted the following data: general study information, study population details, intervention and comparator(s), and frequencies of congenital anomalies (classification, time of determination, and type). Risk of bias focused on the reporting of congenital malformations and was assessed using the Cochrane Risk of Bias Tool Version 2 or the ROBINS-I tool. The GRADEproGDT platform was used to generate the GRADE summary of findings table. MAIN RESULTS AND THE ROLE OF CHANCE: Of the 897 records retrieved during the literature search, 47 were assessed for eligibility. Nine studies were included in the final analysis: six randomized controlled trials (RCTs) and three OSs. Among the RCTs, three had a low risk and three a high risk of bias. Two of the OSs were considered to have a serious risk of bias and one with critical risk of bias and was excluded for the evidence syntheses. The eight remaining studies included a total of 5070 participants and 2680 live births from 16 countries. In the meta-analysis of RCTs only, the overall risk ratio (RR) was 0.92 [95% CI 0.55; 1.55] with low certainty. When the two OSs were included, the overall RR was 1.11 [95% CI 0.73; 1.68] with low certainty. LIMITATIONS REASONS FOR CAUTION: The studies included in the analysis do not report congenital anomalies as the primary outcome; reporting of congenital anomalies was often not standardized. WIDER IMPLICATIONS OF THE FINDINGS: This systematic literature review and meta-analysis provide clear reassurance to both clinicians and patients that dydrogesterone is not associated with congenital anomalies above the rate that might be expected due to environmental and genetic factors. The results of this work represent the highest current level of evidence for the question of congenital anomalies, which removes the existing uncertainty caused by poor quality and retracted studies. STUDY FUNDING/COMPETING INTERESTS: Editorial support was provided by Highfield Communication Consultancy, Oxford, UK, sponsored by Abbott Products Operations AG, Allschwil, Switzerland. A.K., J.A.G.-V., L.P.S., J.N.v.d.A., and J.F.S. received honoraria from Abbott for preparation and participation in an advisory board. J.A.G.-V. received grants and lecture fees from Merck, Organon, Ferring, Gedeon Richter, and Theramex. M.R.N. has no conflicts of interest. J.N.v.d.A. and J.A.G.-V. have no other conflicts of interest. A.K. received payment from Abbott for a talk at the IVF Worldwide congress on 22 September 2023. J.F.S. has received grants from the National Institutes of Health, royalties/licences from Elsevier and Prescient Medicine (SOLVD Health), consulting fees from Burroughs Wellcome Fund (BWF) and Bayer, honoraria from Magee Women's Research Institute, Wisconsin National Primate Research Centre, University of Kansas and Oakridge National Research Laboratory, Agile, Daiichi Sankyo/American Regent, and Bayer, and travel support to attend meetings for the International Academy of Human Reproduction (IAHR). J.F.S. has patents related to diagnosis and treatment of PCOS and prediction of preterm birth. J.F.S. participates on advisory boards for SOLVD Health, Wisconsin National Primate Research Centre, and FHI360, was the past President board member of the Society for Reproductive Investigation, has a leadership role for the following organizations: Scientific Advisory Board, SOLVD Health, EAB Chair for contraceptive technology initiative, FHI360, EAB member, Wisconsin National Primate Research Centre, Advisory Board for MWRI Summit, Chair of BWF NextGen Pregnancy Research Panel, Medical Executive Committee at the Howard, and Georgeanna Jones Foundation, and is Vice President, IAHR. L.P.S. has received consulting fees from Shield Pharmaceuticals, Scynexis, Organon, Natera, Celula China, AiVF, Agile, Daiichi Sankyo, American Regent, and Medicem, honoraria from Agile, Daiichi Sankyo/American Regent, and Bayer, and travel support from BD Diagnostics. L.P.S. participates on the data safety monitoring board for Astellas and is a Chair of DSMB for fezolinetant. Abbott played no role in the funding of the study or in study design, data collection, data analysis, data interpretation, or writing of the report. TRIAL REGISTRATION NUMBER: PROSPERO 2022 CRD42022356977.

The Discovery of an S-shaped Kidney in a Patient With Prostate Cancer: A Rare Finding.

Crossed fused renal ectopia (CFRE) constitutes a rare congenital anomaly of the urinary tract, typically characterized by its predominantly asymptomatic nature and frequent incidental discovery. This case report delineates the clinical profile of a 56-year-old male admitted to our Prostate Cancer Outpatient Clinic due to elevated prostate-specific antigen (PSA) levels, ultimately leading to the diagnosis of prostate cancer. The patient was asymptomatic, with no family or surgical background. Notably, a fused ectopic kidney was incidentally identified during the staging process involving abdominal computed tomography (ACT) scanning. Remarkably, no additional abnormalities of the urinary tract or renal dysfunction manifested in this specific case. The significance of this report lies in the underscored emphasis on the importance of employing precise imaging techniques and tailored management strategies for patients harboring such anatomical variations.

A case-control study characterizing polydactyly risk factors in Bogotá and Cali, Colombia between 2002 and 2020.

BACKGROUND: Polydactyly is a congenital abnormality characterized by the presence of additional fingers on one or more extremities. In Colombia, polydactyly accounted for 17% of musculoskeletal congenital abnormalities in 2021, with a prevalence of 6.03 per 10,000 live births. The purpose of this study was to determine the prevalence of polydactyly and identify associated risk factors in Bogotá and Cali, Colombia, from 2002 to 2020. METHODS: A retrospective case-control study design was employed, analyzing data from birth defect reports provided by the Program for the Prevention and Follow-up of Congenital Defects and Orphan Diseases surveillance system. Cases included live births or stillbirths with polydactyly, while controls consisted of infants without congenital abnormality, matched in terms of birth date and hospital. Prevalence of polydactyly was calculated and risk factors were assessed through odds ratios obtained by logistic regression models, considering a 95% confidence interval. RESULTS: Among the 558,255 births included in the study, 848 cases of polydactyly were identified, resulting in a prevalence rate of 15.19 per 10,000 live births. Risk factors associated with polydactyly included male newborn sex, pregestational diabetes, and a family history of malformation among first-degree relatives. CONCLUSION: These findings highlight the importance a surveillance system aimed to characterize populations with congenital abnormalities, providing a better option for analyzing risk factors, help improving prevention, diagnosis, notification, and optimal treatment in patients.

Chikungunya virus antepartum transmission and abnormal infant outcomes in a cohort of pregnant women in Nigeria.

OBJECTIVES: Chikungunya virus (CHIKV), a reemerging global public health concern, which causes acute febrile illness, rash, and arthralgia and may affect both mothers and infants during pregnancy. Mother-to-child transmission (MTCT) of CHIKV in Africa remains understudied. METHODS: Our cohort study screened 1006 pregnant women with a Zika/dengue/CHIKV rapid test at two clinics in Nigeria between 2019 and 2022. Women who tested positive for the rapid test were followed through their pregnancy and their infants were observed for 6 months, with a subset tested by reverse transcription-polymerase chain reaction (RT-PCR) and neutralization, to investigate seropositivity rates and MTCT of CHIKV. RESULTS: Of the 1006, 119 tested positive for CHIKV immunoglobulin (Ig)M, of which 36 underwent detailed laboratory tests. While none of the IgM reactive samples were RT-PCR positive, 14 symptomatic pregnant women were confirmed by CHIKV neutralization test. Twelve babies were followed with eight normal and four abnormal outcomes, including stillbirth, cleft lip/palate with microcephaly, preterm delivery, polydactyly with sepsis, and jaundice. CHIKV IgM testing identified three possible antepartum transmissions. CONCLUSION: In Nigeria, we found significant CHIKV infection in pregnancy and possible CHIKV antepartum transmission associated with birth abnormalities.

Prevalence of Left Ventricular Myocardial Crypts in Japanese Patients.

Background Myocardial crypts are congenital abnormalities associated with hypertrophic cardiomyopathy (HCM) and other conditions. This study assessed the prevalence of myocardial crypts in Japanese patients. Methods and Results Myocardial crypts were evaluated in a consecutive series of 300 patients (13-92 years old) who underwent computed tomography angiography (CTA) because of clinical suspicion of ischemic heart disease. We found a myocardial crypt incidence of 9.7% (29 patients) in our study population, with multiple crypts observed in 2.3% (7 patients). Among these, myocardial crypts were found in 2 out of 8 (25%) patients with hypertrophic cardiomyopathy (HCM), 1 of which was apical-type HCM. In patients with a single crypt (22 patients), the most common location of the crypt was at the left ventricular apex (16/22 patients, 72.7%), followed by the inferior wall (5/22 patients, 22.7%) and the interventricular septum (1/22 patients, 4.6%). Conclusion The incidence of myocardial crypts observed in our study aligns with that reported in previous studies, although the most common location among the Japanese population was the left ventricular apex.

Case report: Abomasal ulcer secondary to congenital pyloric and duodenal stenosis in a 3-day-old heifer.

Abomasal ulcers, an economic concern for all calf-raising farms, are usually silent until perforation occurs, at which time management is complicated and often unrewarding. This case study describes perforating ulcer in a 3-day-old Brahman heifer, occurring secondary to a congenital narrowing of the pylorus and proximal duodenum and leading to marked abomasal distention, leakage, and eventual peritonitis and sepsis.

Urologic manifestations of hypotonia, ataxia, and delayed development syndrome (HADDS), a rare neurodevelopmental disorder.

INTRODUCTION: Early B-cell factor 3 (EBF3) is a transcription factor involved in neuronal differentiation and maturation. Pathogenic variants are associated with hypotonia, ataxia, and delayed development syndrome (HADDS) (MIM#617330). Urologic manifestations are common and may have implications regarding long term renal function. OBJECTIVE: To review all known patients with pathogenic variants of the EBF3 gene resulting in HADDS with urologic manifestations. We hypothesize a high rate of bladder dysfunction secondary to the EBF3 variant's impact on relaxation of the urinary sphincter leading to detrusor sphincter dyssynergia (DSD). METHODS: The PubMed database was queried for publications of the EBF3 mutation between January 2017 and January 2023. Search terms were "EBF3 mutation OR HADDS AND urology OR phenotype". Retrospective analysis of HADDS patients cared for in our institution was performed. Demographic and clinical information was collected. RESULTS: We identified 52 patients (33F:19M) through literature (28F:18M) and retrospective review (5F:1M). There was a high prevalence of genitourinary physical exam abnormalities, history of urinary tract infection, vesicoureteral reflux (VUR), and diagnosis of neurogenic bladder. Within the literature review cohort, 67% had a urologic diagnosis. Females were disproportionately affected with urologic manifestations. In our cohort, four of six children were diagnosed with VUR and severe voiding dysfunction consistent with neurogenic bladder (67%). These children were managed with a vesicostomy. Five children had bowel dysfunction requiring therapy. Urodynamics suggested a high prevalence of external sphincter dyssynergia. Less severe forms of DSD were felt to be implicated in the abnormal voiding parameters in children who presented later in life based on non-invasive flow studies. DISCUSSION: There is significant variability in the phenotypic presentation of patients with HADDS. While EBF3 plays a clear role in neurodevelopment, it also impacts muscle development and may impact muscle relaxation. The location of the genetic variant may impact the degree of DSD, with more severe forms leading to earlier presentations. Initial work-up should include a renal ultrasound (RUS) and post void residual (PVR). Consideration can be given to obtaining a VCUG, DMSA scan or urodynamic studies. Yearly screening should be pursued with an RUS and PVR in those with an initial unremarkable work-up given the variable timing and severity of presentation. CONCLUSION: Urologic manifestations of HADDS include high rates of bladder dysfunction secondary to DSD, vesicoureteral reflux, urinary tract infection, and cryptorchidism. These patients are at risk of renal deterioration if urinary abnormalities are not properly diagnosed and managed.

Congenital scoliosis associated with total situs inversus: A rare case report.

INTRODUCTION AND IMPORTANCE: Situs inversus totalis is a rare congenital abnormality characterized by a mirror-image transposition of both the abdominal and the thoracic organs. Vertebral anomalies causing congenital scoliosis are classified on the basis of failures of formation, segmentation, or both. The hallmark of surgical treatment is early intervention before the development of large curvatures. The surgical treatment of a congenital deformity mandates the use of neurological monitoring to minimize the risk of perioperative neurological deficit. CASE PRESENTATION: We present a 21-year-old patient who was admitted for her scoliosis deformity correction. Complaints of back pain when standing for a long time and carrying heavy loads for too long. Her systemic examination revealed the apex cardiac beat on the right side, liver dullness on the left side, and rib hump deformity. CLINICAL DISCUSSION: Congenital scoliosis is the most frequent congenital deformity of the spine. Congenital curvatures are due to anomalous development of the vertebrae (failure of formation and/or segmentation). Congenital scoliosis is believed to be related to an insult to the fetus during spine embryological development and associated malformations. In our case, the X-ray showed that the cardiac apex, spleen, stomach, and aorta were present on the right side, and the larger liver lobe and inferior vena cava were noted on the left side. Thus, the image manifestations supported the diagnosis of situs inversus totalis. CONCLUSION: Corrective surgery with osteotomy could be a safe and effective for the treatment of scoliosis associated with situs inversus totalis.

Type 3A Symbrachydactyly in a Newborn Female: A Case Report.

Symbrachydactyly is a complex and rare congenital hand deformity characterized by missing or underdeveloped fingers and rudimentary digit nubbins. This case report focuses on a newborn female with type 3A symbrachydactyly, highlighting the unique clinical presentation, diagnostic assessment, and initial management approach. The rarity of this condition underscores the need for sharing cases to enhance understanding and treatment strategies. Various classification systems exist, contributing to the challenge of accurately categorizing symbrachydactyly. Surgical interventions play a crucial role in restoring hand function and appearance, with treatment choices tailored to individual evaluation and goals. Early surgical intervention is often necessary to improve outcomes, and nonvascularized toe phalangeal transfers have shown promising results. Further research is required to uncover the underlying cause and pathogenesis of symbrachydactyly, enabling more targeted and effective treatment approaches. This case report contributes to the existing knowledge and management of this uncommon congenital anomaly, emphasizing the importance of sharing and studying such cases for improved patient care.

Left atrial mitral valve chordae: An important congenital abnormality mimicking endocarditis on transthoracic echocardiography-Case report.

A 59-year-old male was incidentally diagnosed with a left atrial mitral valve chordae involving the junction of the A1 and A2 mitral valve leaflets and resulting in moderate mitral regurgitation. The recognition of this extremely rare congenital malformation prevented over diagnosis and overtreatment.

Oropharyngeal Teratoma: Five-Month-Old Presenting With Failure to Thrive and Severe Obstructive Sleep Apnea.

Oropharyngeal teratomas are an extremely rare congenital tumor. They are often diagnosed prenatally and can cause significant airway obstruction and feeding difficulties at birth. We present a five-month-old female that was diagnosed with a palatal teratoma that presented with failure to thrive, difficulty feeding, and eventually with severe obstructive sleep apnea. We present a five-month-old term, otherwise healthy female who became stridulous after an episode of the respiratory syncytial virus at one month old. At three months old, an otolaryngologist diagnosed mild laryngomalacia with no mass identified, and no surgical intervention was recommended. Due to continued poor weight gain, at four months old, a nasogastric tube was placed. She was subsequently admitted for further workup. She had severe stridor, a failure to thrive, and was in the 0.07th percentile for weight. Workup revealed severe obstructive sleep apnea and a palatal mass obstructing her left oropharynx. A biopsy and debulking of the mass was performed in the operating room. Pathology resulted as a mature teratoma with evidence of glial and intestinal tissue. There are no pathognomonic characteristics found on imaging to diagnose teratomas, and diagnosis is made with pathologic identification of two of the three germ cell layers. Although most teratomas are benign, there is potential for malignant transformation involving any of the represented germ cell layers. Many teratomas are diagnosed prenatally and can be quite large, often requiring Ex Utero Intrapartum Treatment (EXIT) procedure at birth to establish a safe airway. Overall, this case highlights the importance of a thorough head and neck exam, including a bilateral flexible laryngoscopy, when evaluating an infant with airway obstruction. Providers evaluating these patients should consider oropharyngeal masses, such as teratoma, as part of the differential to ensure accurate and timely diagnosis.

Anomalous Right Coronary Artery From the Pulmonary Artery Diagnosed in Pregnancy.

A 39-year-old gravida 2, para 1 woman presented for evaluation of palpitations in pregnancy. She was found to have supraventricular tachycardia. The initial echocardiogram demonstrated a color Doppler signal in the proximal pulmonary artery with diastolic-dominant flow, suggestive of coronary flow. She received a diagnosis of anomalous right coronary artery from the pulmonary artery. Her arrhythmia was managed medically. We discuss techniques for risk stratification of cardiac lesions in pregnancy and for the management of anomalous coronary origin from the pulmonary artery. (Level of Difficulty: Intermediate.).

Rare case of bilateral bronchopulmonary sequestration.

Pulmonary sequestration is a rare congenital bronchopulmonary malformation with an estimated incidence of less than 6%. It is described as the abnormal formation of nonfunctional lung tissue that receives its blood supply from systemic circulation rather than the bronchial tree. Most are unilateral, while a miniscule proportion is bilateral. Delayed diagnosis can result in recurrent pneumonia, failure to thrive, regular hospital visits, morbidity and even fatality. Thus, it is important to raise awareness of this condition. Herein, we present a case of a 42-year-old patient with bilateral pulmonary sequestration (BPS) on a triple rule out CT angiography (TRO-CTA).

Unilateral Lung Agenesis: A Case Series and Review of Literature.

Unilateral lung agenesis is a rare congenital abnormality that typically presents with respiratory distress after birth. Prognostic factors include the side of the lung affected along with the presence or absence of other congenital abnormalities. Prenatal imaging can make the diagnosis that can assist the healthcare team in preparing to care for the neonate, as well as set expectations for the family. In this case series, we describe three cases of unilateral lung agenesis, two infants with right lung agenesis, and one with the left. We describe their presentation, provide a brief clinical course, and discuss outcomes.

Chlormadinone acetate in progestin-primed ovarian stimulation does not negatively affect clinical results.

Purpose: To investigate whether progestin-primed ovarian stimulation (PPOS) with chlormadinone acetate (CMA) adversely affects clinical results and neonatal outcomes, or causes congenital deformities. Methods: This retrospective study was conducted at private IVF clinic from November 2018 to November 2021. Women underwent oocyte retrieval using gonadotropin-releasing hormone (GnRH) antagonist protocol (n = 835) or PPOS protocol (n = 57) were included. Eligible patients were normal ovarian responders (aged <40, AMH ≧1.0 ng/mL) with freeze-all cycle. Embryo developments, clinical results, or neonatal outcomes of singletons derived from transfer of frozen single blastocysts were compared within each group. Results: Patient characteristics were similar in both groups. The median LH level (mIU/mL) at trigger in the GnRH antagonist group [2.0 (1.2-3.7)] was significantly higher than in the PPOS group [0.9 (0.3-1.7)]. There was no cycle with premature LH surge in the PPOS group. Fertilization and blastocyst formation rates did not differ significantly between groups. Furthermore, clinical outcomes were also similar in the two groups. Congenital abnormality rates did not differ significantly [0.9% (3/329), 0.0% (0/17)]. Conclusions: CMA using ovarian stimulation did not negatively affect clinical results. Our data suggest that PPOS with CMA is an appropriate ovarian stimulation method for normal ovarian responders.

Tracheal Diverticulum Mimicking Pneumomediastinum: A Case Report Emphasizing the Importance of Differential Diagnosis in Chest Imaging Evaluation.

A tracheal diverticulum (TD) is a generally benign medical condition, where there is an outpouching of the tracheal wall. Additionally, it is generally asymptomatic but there have been reported cases of adverse outcomes linked to TD. Here we present a case of a tracheal diverticulum that was incidentally found during the workup for stroke in a patient. Moreover, due to its radiologic appearance, there was concern for pneumomediastinum. We highlight the presentation and clinical importance of TD owing to the complications one is predisposed to from having this condition.

3D printed bionic ear and microtia-anotia: Medical and forensic implications.

Advances in science and technology result in continuous upgrading of the medical and clinical fields. These upgrades have been beneficial to many patients suffering from congenital and developmental diseases causing compromised functionality as well as the structural integrity of the affected organs. One such congenital anomaly is the microtia-anotia spectrum, which results in deformities of the external ear, affecting the hearing capability of an individual. The collaboration and integration of electronics in human biology are exemplified by the development of a 3D printed cyborg bionic ear from the patient's own cells, which is implanted to ameliorate microtia and improve the patient's hearing capacity. Since the late nineteenth century, forensic scientists have explored the external ear, establishing the significance of ear biometrics in the identification process. Similarly, ear prints can also play an important role in identifying the felon of a crime. In this regard, we examine the structure and functionality of implanted ears. This communication is an attempt to enlighten investigators on the forensic importance and limitations of the use of bionic ears for identification.

Transthoracic echocardiography and its limitations in the diagnosis of congenital supernumerary aortic valve in a Thoroughbred.

Aortic valve malformation is a common congenital abnormality reported in human medicine. The malformation is characterised by an increased or decreased number of cusps. Anatomical variations of the aortic valve that have been documented in humans include unicuspid, bicuspid, quadricuspid and quinticuspid valves. Two reports described a quadricuspid aortic valve in horses associated with either a ventricular septal defect (VSD) or tetralogy of Fallot. In this case report we describe the clinical and echocardiographic findings of a horse with a quadricuspid aortic valve as single congenital abnormality, referred with history of exercise intolerance and an episode of paroxysmal atrial fibrillation. Limitations and risks of misdiagnosis that can be encountered with transthoracic echocardiography are also discussed. The reported case highlights the importance of echocardiographic screening in asymptomatic patients as congenital heart disease can be present without obvious cardiac signs. As advanced imaging on the equine thorax is still far from future possibilities for adult horses, this report may help to reach an accurate diagnosis with similar cases.