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Background/purpose: There is limited data available on atherectomy usage in hospitals or centers without on-site surgical backup. The purpose of this retrospective analysis was to gain further knowledge by analyzing the in-hospital and 30-day outcomes of complex PCI patients (including diabetics) treated with coronary orbital atherectomy (OA) at centers without on-site surgical back-up.Methods/materials: All comers treated with OA at two centers without on-site surgical backup were included. Baseline, procedure, and outcome data were compared in diabetic and non-diabetic patients. The impact of transfemoral (TFA) versus transradial (TRA) vascular access was also assessed.Results: Of the 221 patients treated with OA, 43% were diabetics. The diabetes and no-diabetes groups had similar baseline demographic and lesion characteristics, except for the higher rate of chronic kidney disease seen in the diabetics. Overall, there was a high freedom from major adverse cardiac events (MACE; in-hospital: 99.5%; 30-day: 98.6%), as well as a high success in stent delivery (99.5%) and procedural success (97.3%). The rate of angiographic complications was low in both the diabetes and no-diabetes groups (3.1% vs. 1.6%, p = 0.450). TFA and TRA were used in 36% and 64% of the patients, respectively-resulting in low angiographic complications in both groups (3.8% vs. 1.4%, p = 0.263).Conclusions: Despite the complexity of patient co-morbidities and the presence of heavily calcified lesions, the results indicate that coronary OA can be used safely and effectively without on-site surgical back-up. OA treatment resulted in a high rate of successful stent delivery and procedural success, as well as low rates of angiographic complications and MACE, in diabetic and non-diabetic patients, regardless of access site.Table Of Contents Summary: There is limited data available on atherectomy usage in centers without on-site surgical backup. The purpose of this retrospective analysis was to gain further knowledge by analyzing the outcomes of complex PCI patients (including diabetics) treated with coronary orbital atherectomy (OA) at centers without on-site surgical back-up. The impact of transfemoral (TFA) versus transradial (TRA) vascular access was also assessed. Despite the complexity of patient co-morbidities and the presence of heavily calcified lesions, the results indicate that coronary OA can be used safely and effectively without on-site surgical back-up. OA treatment resulted in a high rate of successful stent delivery and procedural success, as well as low rates of angiographic complications and major adverse cardiac events, in diabetic and non-diabetic patients, regardless of access site (TFA or TRA). [ABSTRACT FROM AUTHOR]

Abstract: Androgens in breast cancer have been studied alone and in correlation with estrogens as estrogen to testosterone ratio. 5-α-reductase is one of the important enzymes participating in androgen metabolism, which affects androgen activity by affecting conversion of testosterone to dihydrotestosterone. We hypothesized that polymorphisms in the SRD5A2 gene (encoding 5-α-reductase) may affect breast cancer risk by affecting total androgen activity. Complete coding region of the SRD5A2 gene was sequenced in a group of 628 patients and 244 control samples from three southern states (Tamil Nadu, Andhra Pradesh, and Karnataka) of India. We observed three common polymorphisms in this gene; namely, A49T, V89L, and (TA)n repeats. A49T locus was monomorphic in the study population, but V89L showed a strong correlation with breast cancer (P = 0.03, OR = 1.40, CI = 1.02–1.91). (TA)0/(TA)9 and (TA)9/(TA)9 genotypes were at a lower risk of breast cancer (P = 0.01, OR = 0.64, CI = 0.46–0.90). We conclude that SRD5A2 genotypes significantly affect breast cancer risk in the South Indian populations. [Copyright &y& Elsevier]

Superficial angiomyxoma is a distinctive cutaneous soft tissue neoplasm commonly involving dermal and subcutaneous tissues and showing a prominent angiomyxoid matrix interspersed with numerous blood vessels. We report a case of superficial angiomyxoma in a 70-year-old man who presented with a fungating swelling on the distal phalanx of the thumb mimicking a malignant tumor. The diagnosis of superficial angiomyxoma was made based on histopathology and immunohistochemistry. We report this lesion because of its rare presentation with extensive distal phalangeal osteolysis mimicking a malignant bone tumor. [Copyright &y& Elsevier]

Abstract: Mucormycosis is an uncommon, fatal, fungal infection occurring more often in immunocompromised patients. Gastrointestinal mucormycosis is rare, and found primarily in patients with extreme malnutrition. This is a case report of a 76-year-old, well-nourished immunocompetent, non-diabetic male patient, who presented with urinary tract infection, for whom broad-spectrum antibiotics were administered. Reducing haemoglobin levels and occult blood positivity in stools prompted a gastroscopy, which showed a large ulcerated growth in the body of the stomach, suspicious of malignancy. Subsequent biopsy and histopathological examination revealed gastric mucormycosis. The patient was administered intravenous amphotericin B for 6weeks. Complete recovery followed, as evidenced by a healed ulcer on gastroscopy and no fungal elements on biopsy. Although gastrointestinal mucormycosis has been reported with fatal outcome, our patient had complete recovery with only medical management and no surgical intervention, highlighting the importance of early diagnosis. [ABSTRACT FROM AUTHOR]

Summary: A middle aged female presented with history of breathlessness and swelling of legs of 2 weeks duration; the clinical and laboratory picture was suggestive of rapidly progressive renal failure and the kidney biopsy revealed a crescentic glomerulonephritis. Her renal function improved with the steroid therapy; in view of persistent breathlessness despite good diuresis chest radiograph was repeated which showed reduced lung volume on right and compensatory emphysema on the left side; a computerized tomography (CT) scan of the thorax showed a mass lesion partially obliterating the right main bronchial lumen. The mass on histopathology revealed small cell neuroendocrine carcinoma (SCNC) with adenosquamous carcinoma. To our knowledge only one case of neuroendocrine tumor presenting as a crescentic glomerulonephritis has been reported in the literature. [Copyright &y& Elsevier]

Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2; MIM# 618321), caused by biallelic pathogenic variants in the NAD(P)HX dehydratase (NAXD) is a rare metabolite repair disorder. It is characterized by progressive neurological deterioration usually associated with a febrile illness. The other common findings include skin lesions, elevated serum or cerebrospinal fluid lactate levels, and brain neuroimaging abnormalities. Currently, variants in NAXD have been reported in eight unrelated individuals including six truncating and six missense variants. We report on an additional individual with characteristic findings of PEBEL2, and an additional finding of sparse scalp hair. A novel missense variant c.301G > A, p.(Ala101Thr) in a homozygous state was identified through exome sequencing. This study adds to the phenotypic and mutational spectrum of PEBEL2. We review the existing phenotypic and genotypic information for the individuals with this neurometabolic condition. [ABSTRACT FROM AUTHOR]

Inflammatory immune response to self-antigens plays an important role in the development of atherosclerosis. Restoring immune tolerance to self-proteins reduces the pro-inflammatory response. We previously showed that oral tolerance to a combination of two peptides is atheroprotective. In the present study we expressed epitopes from apolipoprotein B 100 (ApoB), human heat shock protein (HSP60) and Chlamydia pneumonia outer membrane protein (Cpn) in a single protein scaffold and used this multi-antigenic construct to induce tolerance to individual peptides by oral route in ApoBtm2Sgy/Ldlrtm1Her/J mice. Antigen specific tolerance to individual peptides was observed in treated animals as seen by an increase in regulatory T cells. Tolerance to the peptides resulted in a 46.5% (p=0.002) reduction in the development of atherosclerosis compared with control. Atheroprotection was associated with a significant (p<0.05) decrease in plaque inflammation and an increase in the expression of immune regulatory markers in the aorta. CD11c+ cells coexpressing CD11b and CD103 increased in lymphoid organs and were found to activate regulatory T cells and reduce effector T-cell response. Adoptive transfer of CD11c+ cells was atheroprotective. Our results suggest that atheroprotection by oral tolerance to a multi-antigenic construct is mediated by antigen specific regulatory T cells and CD11c+ cells with immune regulatory properties. [ABSTRACT FROM AUTHOR]

Abstract: The m.10398G>A polymorphism in the MT-ND3 gene has been linked to the manifestation of several neurodegenerative disorders and cancers. Several research groups have analyzed the association between m.10398G>A polymorphism and breast cancer; however, the results do not follow a consensus. We have studied this polymorphism in three Dravidian populations from South India. Analysis on 716 cases and 724 controls found no association between m.10398G>A polymorphism and breast cancer [OR=0.916 (0.743–1.128); P=0.409]. Menopausal stratification also revealed no significant association in either pre-menopausal or post-menopausal breast cancer groups. In addition, we undertook a meta-analysis on 16 study groups, comprising a total of 7202 cases and 7490 controls. The pooled odds ratio suggested no significant association of m.10398G>A substitution with breast cancer [OR=1.016 (0.85–1.22); P=0.86]. In conclusion, there is no evidence of association between m.10398G>A polymorphism and breast cancer risk among South Indian women. Meta-analysis suggested no overall correlation between this polymorphism and breast cancer risk. [Copyright &y& Elsevier]

Abstract: Several genetic factors have been found to be associated with recurrent pregnancy loss (RPL). However, not many attempts have been made to associate the mitochondrial DNA (mtDNA) variations with RPL. Therefore, we have analyzed the complete mtDNA of 100 women with RPL and 12 aborted fetal tissues. Our analysis revealed a total of 681 variations, most of which were in NADH Dehydrogenase (ND) genes that encode mitochondrial enzyme Complex I. Presence of T4216C variation (ND1 gene) in 9% of the RPL women and several pathogenic, and novel mutations suggest the role of mtDNA variations in RPL. [Copyright &y& Elsevier]