Project description:Congenital absence of the internal carotid artery is a rare occurrence. Even more infrequent are cases where the patient has a bilateral absence of the internal carotid arteries. Reported is a case of a 52-year-old woman who presented with optic nerve neuropathy, and was incidentally discovered to have a congenital bilateral absence of her internal carotid arteries. During computed tomography angiography imaging looking for cerebral venous thrombosis, related to her preexisting condition of bilateral elevated optic discs and residual left optic neuropathy, the findings were made. The absence of the arteries is not always recognizably symptomatic, with most findings being incidental through imaging studies only. This is because collateral flow allows for sufficient cerebral circulation. However, this condition puts such patients at higher risk for conditions such as aneurysms and subsequently strokes where the collateral flow exists.
Project description:Bilateral absence of the common iliac artery is an extremely rare congenital vascular malformation in which the distal aorta divides directly into two external iliac arteries and two internal iliac arteries. In the case of the presence of this vascular malformation in association with an aortic aneurysm, preservation of the internal iliac artery flow during endovascular aortic repair represents a technical challenge. We have reported a case in which the bilateral absence of the common iliac artery associated with an infrarenal abdominal aortic aneurysm was successfully treated by endovascular aortic repair using commercially available iliac branched devices to maintain pelvic perfusion.
Project description:Congenital absence of left circumflex artery is a rare occurrence and very few cases have been reported in literature. It is a benign incidental finding; however some patients present with sudden onset chest pain mimicking acute coronary syndrome often resulting in detection of this rare anatomy on coronary angiography. Coronary computed tomography angiography is a relatively new noninvasive imaging modality which can be used to confirm this suspicion and diagnose this unique morphology reliably.
Project description:We report the case of a 52-year-old man presenting an extensive lumbosacral necrosis after bilateral internal iliac arteries embolization following unstable pelvic fracture. Coverage of the defect was performed using two extended lumbar artery perforator flaps in a propeller fashion. Good functional and esthetic result was achieved at one-year follow-up.
Project description:ObjectiveTo investigate whether genetic modifiers of cystic fibrosis (CF) lung disease also predispose to congenital bilateral absence of the vas deferens (CBAVD) in association with cystic fibrosis transmembrane conductance regulator (CFTR) mutations. We tested the hypothesis that polymorphisms of transforming growth factor (TGF)-?1 (rs 1982073, rs 1800471) and endothelin receptor type A (EDNRA) (rs 5335, rs 1801708) are associated with the CBAVD phenotype.DesignGenotyping of subjects with clinical CBAVD.SettingOutpatient and hospital-based clinical evaluation.Patient(s)DNA samples from 80 subjects with CBAVD and 51 healthy male controls from various regions of Europe. This is one of the largest genetic studies of this disease to date.Intervention(s)None.Main outcome measure(s)Genotype analysis.Result(s)For single nucleotide polymorphism (SNP) rs 5335, we found increased frequency of the CC genotype among subjects with CBAVD. The difference was significant among Turkish patients versus controls (45.2% vs. 19.4%), and between all cases versus controls (36% vs. 15.7%). No associations between CBAVD penetrance and polymorphisms rs 1982073, rs 1800471, or rs 1801708 were observed.Conclusion(s)Our findings indicate that endothelin receptor type A polymorphism rs 5335 may be associated with CBAVD penetrance. To our knowledge, this is the first study to investigate genetic modifiers relevant to CBAVD.
Project description:Absence of the anterior (ACL) or posterior cruciate ligament (PCL) are rare congenital malformations that result in knee joint instability, with a prevalence of 1.7 per 100,000 live births and can be associated with other lower-limb abnormalities such as ACL agnesia and absence of the menisci of the knee. While a few cases of absence of ACL/PCL are reported in the literature, a number of large familial case series of related conditions such as ACL agnesia suggest a potential underlying monogenic etiology. We performed whole exome sequencing of a family with two individuals affected by ACL/PCL.We identified copy number variation (CNV) deletion impacting the exon sequences of CEP57L1, present in the affected mother and her affected daughter based on the exome sequencing data. The deletion was validated using quantitative PCR (qPCR), and the gene was confirmed to be expressed in ACL ligament tissue. Interestingly, we detected reduced expression of CEP57L1 in Epstein-Barr virus (EBV) cells from the two patients in comparison with healthy controls. Evaluation of 3D protein structure showed that the helix-binding sites of the protein remain intact with the deletion, but other functional binding sites related to microtubule attachment are missing. The specificity of the CNV deletion was confirmed by showing that it was absent in ~700 exome sequencing samples as well as in the database of genomic variations (DGV), a database containing large numbers of annotated CNVs from previous scientific reports.We identified a novel CNV deletion that was inherited through an autosomal dominant transmission from an affected mother to her affected daughter, both of whom suffered from the absence of the anterior and posterior cruciate ligaments of the knees.
Project description:We report a unique case of an 18-day-old girl with three coronary artery fistulas to the right atrium and right ventricle, respectively: three collateral arteries arising from the descending aorta and one from the right subclavian artery draining through a sac to the top of the right atrium, patent ductus arteriosus, and atrial septal defect. She presented symptoms of acute congestive heart failure. Cardiac catheterization and surgical interventions were performed to repair the defects. The patient recovered uneventfully and grew up well at 3 years of follow-up. Whole-genome sequencing (WES) in the patient, compared to her parents, showed 17 variants within 11 genes. Among these, only compound heterozygous mutation, c.T470G (p.L157R) and c.A1622G (p.D541G), in the DRC1 gene have been reportedly related to congenital heart disease and are the most likely causative in our patient.
Project description:There are many publications reporting excellent short and long-term results with endovascular techniques. Patients included in trials are often highly selected and may not represent real world practice. Registries are important to interventional radiologists for several reasons; they reflect prevailing practice and can be used to establish real world standards of care and safety profiles. This information allows individuals and centers to evaluate their outcomes compared with national norms. The British Iliac Angioplasty and Stenting (BIAS) registry is an example of a mature registry that has been collecting data since 2000 and has been reporting outcomes since 2001. This article discusses the evidence to support both endovascular and surgical intervention for aortoiliac occlusive disease, the role of registries, and optimal techniques for aortoiliac intervention.
Project description:BackgroundCystic fibrosis (CF) is an autosomal recessive disorder rarely found in Asian populations. Most males with CF are infertile because of obstructive azoospermia (OA) caused by congenital bilateral absence of the vas deferens (CBAVD). Compound heterozygous mutations of cystic fibrosis transmembrane conductance regulator (CFTR) are among the most common pathogenic factors in CBAVD. However, few genealogical analyses have been performed.MethodsIn this study, whole-exome sequencing and cosegregation analysis were performed in a Chinese pedigree involving two siblings with CBAVD. Moreover, in vitro gene expressions were used to analyze the pathogenicity of a novel CFTR mutation.ResultsWe identified compound heterozygous mutations of CFTR comprising the known disease-causing variant c.1210-11T>G (also known as IVS9-5 T) and c.2144delA;p.q715fs in two siblings with CBAVD. To verify the effects in vitro, we transfected vectors expressing wild-type and mutated CFTR into 293T cells. The results showed that the CFTR protein containing the frameshift mutation (c.2144delA) was 60 kD smaller. With testicular sperm aspiration/intracytoplasmic sperm injection-embryo transfer (TESA/ICSI-ET), both CBAVD patients fathered healthy offspring.ConclusionOur study revealed that compound heterozygous mutations of CFTR are involved in CBAVD, expanding the known CFTR gene mutation spectrum of CBAVD patients and providing more evidence that compound heterozygous mutations can cause familial CBAVD.
Project description:PurposeCongenital bilateral absence of the vas deferens (CBAVD) is a major cause of obstructive azoospermia and male factor infertility. CBAVD is mainly caused by mutations in the genes encoding CFTR (cystic fibrosis transmembrane conductance regulator) and ADGRG2 (adhesion G protein-coupled receptor G2). This study aimed to describe CFTR and ADGRG2 variations in 46 Chinese CBAVD patients and evaluated sperm retrieval and assisted reproductive technology outcomes.MethodsThe CFTR and ADGRG2 genes were sequenced and analyzed by whole-exome sequencing (WES), and variations were identified by Sanger sequencing. Bioinformatic analysis was performed. We retrospectively reviewed the outcomes of patients undergoing sperm retrieval surgery and intracytoplasmic sperm injection (ICSI).ResultsIn total, 35 of 46 (76.09%) patients carried at least one variation in CFTR, but no copy number variants or ADGRG2 variations were found. In addition to the IVS9-5 T allele, there were 27 CFTR variations, of which 4 variations were novel and predicted to be damaging by bioinformatics. Spermatozoa were successfully retrachieved in 46 patients, and 39 of the patients had their own offspring through ICSI.ConclusionThere are no obvious hotspot CFTR mutations in Chinese CBAVD patients besides the IVS9-5 T allele. Therefore, WES might be the best detection method, and genetic counseling should be different from that provided to Caucasian populations. After proper counseling, all patients can undergo sperm retrieval from their epididymis or testis, and most of them can have their own children through ICSI.