Case Report: Cystic Adventitial Disease of the External Iliac Artery with Imaging Features of a Complicating Proximal Dissection

IntroductionCystic adventitial disease (CAD) is a rare cause of claudication. We report a case of CAD involving the external iliac artery, with possible cyst rupture intramurally causing significant long segment stenosis of the external iliac artery.Case reportA 52-year-old female presented with sudden onset (over 1 day) lifestyle-limiting claudication affecting the left calf and thigh. CT angiography of the lower limbs revealed an eccentric low density wall thickening of the left external iliac artery (EIA) producing a 70% stenosis and a cystic lesion just distal to the stenosis.DiscussionA diagnosis of cystic adventitial disease was made and the patient proceeded to iliofemoral bypass.     

AIPL1突变患者先天性Leber黑蒙表现型

目的：叙述26例先证者中芳香族羟基碳氢化合物受体蛋白样1蛋白质（AIPL1）突变的先天性Leber黑蒙（LCA）的表现型，并比较其他LCA相关性基因的表现型。叙述杂合子携带者的视网膜电图（ERG）。     

A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis

Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous severe retinal dystrophy presenting in infancy. To explain the phenotypical variability observed in two affected siblings of a consanguineous pedigree diagnosed with LCA and establish a genotype-phenotype correlation, we screened GUCY2D, RPE65, CRX, AIPL1, and RPGRIP1 for mutations. The more severely affected sibling carried a heterozygous missense mutation in the GUCY2D gene (Ile539Val), which did not segregate with the disease phenotype. Subsequently, a homozygous nonsense mutation (Glu102STOP) in the RPE65 gene was identified in both affected siblings, thus identifying the causative gene. This data provides evidence for the presence of genetic modulation in LCA. It appears that the heterozygous GUCY2D mutation further disrupts the already compromised photoreceptor function resulting in more severe retinal dysfunction in the older sibling. We suggest that the unusual phenotypic variability in these two siblings with LCA is caused by the modifying effect of a heterozygous GUCY2D mutation observed against the disease background of a homozygous RPE65 mutation.     

Evaluation of DNA binding, DNA cleavage, protein binding and in vitro cytotoxic activities of bivalent transition metal hydrazone complexes

Divalent Co, Ni and Cu hydrazone complexes containing [N′-(phenyl(pyridine-2-yl)methylidene) benzohydrazide] ligand were synthesised and characterised. Interactions of these complexes with DNA revealed an intercalative mode of binding between them. Further, all the hydrazone chelates showed moderate ability to cleave pUC19 DNA. Synchronous fluorescence spectra proved that the interaction of metal complexes with bovine serum albumin (BSA) resulted in a conformational change of the latter. Assay on the cytotoxicity of the above complexes against HeLa tumor cells and NIH 3T3 normal cells revealed that the complexes are toxic only against tumor cells but not to normal cells. In all the biological assays, the complex with copper ion as the metal center showed enhanced activities than the other two.     

Chemometrics of differentially expressed proteins from colorectal cancer patients

AIM:To evaluate the usefulness of differentially expressed proteins from colorectal cancer (CRC) tissues for differentiating cancer and normal tissues.METHODS:A Proteomic approach was used to identify the differentially expressed proteins between CRC and normal tissues.The proteins were extracted using Tris buffer and thiourea lysis buffer (TLB) for extraction of aqueous soluble and membrane-associated proteins,respectively.Chemometrics,namely principal component analysis (PCA) and linear discriminant analy...     

Mutational analysis and clinical correlation in Leber congenital amaurosis

Leber congenital amaurosis (LCA, MIM 204001) is a clinically and genetically heterogeneous retinal disorder characterized by severe visual loss from birth, nystagmus, poor pupillary reflexes, retinal pigmentary or atrophic changes, and a markedly diminished electroretinogram (ERG). Purpose: To examine 100 consecutive patients with LCA in order to assess the relative burden of the three known genes involved in LCA, namely retinal guanylyl cyclase ( GUCY2D ), retinal pigment epithelium protein ( RPE65 ), and the cone-rod homeobox ( CRX ), and to define their clinical correlates. Methods: Mutational analysis and detailed clinical examinations were performed in patients diagnosed with LCA at the Johns Hopkins Center for Hereditary Eye Diseases and the Montreal Children’s Hospital. Results: Mutations were identified in 11% of our patients: GUCY2D mutations accounted for 6%, while RPE65 and CRX gene mutations accounted for 3% and 2%, respectively. The clinical presentation was variable; however, the visual evolution in patients with mutations in GUCY2D and CRX remained stable, while individuals with mutations in the RPE65 gene showed progressive visual loss. Conclusions: This study suggests that molecular diagnosis of Leber congenital amaurosis could provide important information concerning prognosis and course of treatment.     

Carbapenem-resistant <Emphasis Type="Italic">Enterobacteriaceae</Emphasis> in pediatric bloodstream infections in rural Southern India

Objective

To measure the frequency of antimicrobial resistance in pediatric blood culture isolates of Escherichia coli and Klebsiella spp. with focus on carbapenem resistance.

Methods

Over a period of three years, pediatric blood culture isolates were tested for antimicrobial susceptibility, including molecular investigations for carbapenem resistance.

Results

Amikacin, carbapenems, colistin and tigecycline had an antimicrobial efficacy of >70% (n=140). 7 of the 15 randomly selected isolates were positive for carbapenemase gene; among them, five were New Delhi Metallo β-lactamase (NDM).

Conclusion

There was a high prevalence of Klebsiella spp. in pediatric bacteremia and dissemination of NDMmediated carbapenem resistance in pediatric wards.

     

The PCA and LDA analysis on the differential expression of proteins in breast cancer

Breast cancer is a leading cause of mortality in women. In Malaysia, it is the most common cancer to affect women. The most common form of breast cancer is infiltrating ductal carcinoma (IDC). A proteomic approach was undertaken to identify protein profile changes between cancerous and normal breast tissues from 18 patients. Two protein extracts; aqueous soluble and membrane associated protein extracts were studied. Thirty four differentially expressed proteins were identified. The intensities of the proteins were used as variables in PCA and reduced data of six principal components (PC) were subjected to LDA in order to evaluate the potential of these proteins as collective biomarkers for breast cancer. The protein intensities of SEC13-like 1 (isoform b) and calreticulin contributed the most to the first PC while the protein intensities of fibrinogen beta chain precursor and ATP synthase D chain contributed the most to the second PC. Transthyretin precursor and apolipoprotein A-1 precursor contributed the most to the third PC. The results of LDA indicated good classification of samples into normal and cancerous types when the first 6 PCs were used as the variables. The percentage of correct classification was 91.7% for the originally grouped tissue samples and 88.9% for cross-validated samples.     

Chest wall resection and reconstruction: a case series of 20 patients in Hospital Kuala Lumpur,Malaysia

Chest wall resection is defined as partial or full-thickness removal of the chest wall. Significant morbidity has been recorded, with documented respiratory failure as high as 27%. Medical records of all patients who had undergone chest wall resection and reconstruction were reviewed. Patients’ demographics, length of surgery, reconstruction method, size of tumor and chest wall defect, histopathological result, complications, duration of post-operative antibiotics, and hospital stay were assessed. From 1 April 2017 to 30 April 2019, a total of 20 patients underwent chest wall reconstructive surgery. The median age was 57 years, with 12 females and 8 males. Fourteen patients (70%) had malignant disease and 6 patients (30%) had benign disease. Nine patients underwent rigid reconstruction (titanium mesh for sternum and titanium plates for ribs), 6 patients had non-rigid reconstruction (with polypropylene or composite mesh), and 5 patients had primary closure. Nine patients (45%) required closure with myocutaneous flap. Complications were noted in 70% of patients. Patients who underwent primary closure had minor complications. In total, 66.7% of patients who had closure with either fasciocutaneous or myocutaneous flaps had threatened flap necrosis. Two patients developed pneumonia and 3 patients (15%) had respiratory failure requiring tracheostomy and prolonged ventilation. There was 1 mortality (5%) in this series. In conclusion, chest wall resections involving large defects require prudent clinical judgment and multidisciplinary assessments in determining the choice of chest wall reconstruction to improve outcomes.