CCM2 expression during prenatal development and adult human neocortex

Cerebral cavernous malformation (CCM) is one of the most common types of vascular malformations of the central nervous system, affecting nearly one in 200 people. CCM lesions are characterized by grossly dilated vascular channels lined by a single layer of endothelium. Genetic linkage analyses have mapped three CCM loci to CCM1, CCM2 and CCM3. All three causative genes have now been identified allowing new insights into CCM pathophysiology. We focused on the CCM2 protein that might take place in blood vessel formation; we report here the expression patterns of CCM2 in prenatal development and adult human neocortex by means of immunohistochemistry and Western blot analysis. CCM2 was obviously detected in vascular endothelium and neuroglial precursor cells during development and also observed in arterial endothelium, neurons, some of the glial cells in adult neocortex. The expression patterns suggest that it could be one of the arterial markers whether this is a cause or a consequence of an altered vascular identity. CCM2 might play a role during vasculogenesis and angiogenesis during human brain development. Furthermore, with this study, CCM2 have been described for the first time in developing human neocortex.     

Prognostic factors that affect the response to topical treatment in patchy alopecia areata

Background Alopecia areata (AA) is an organ‐specific, T‐cell‐mediated autoimmune disease that is characterized by non‐scarring hair loss. Objective We aimed to find the factors that may affect the response to topical therapy in AA. Methods The study included a total of 60 patients with AA and 30 healthy control patients. The AA patients were randomized into two groups. 40 patients used 0.05% clobetasol propionate cream, and 20 patients used petrolatum (placebo). Both groups applied topical treatments to their lesions twice daily for 12 weeks. Results The mean extent of AA was 21.88 ± 16.75% in patients with autoantibodies and 12.16 ± 13.55% in those who were negative for autoantibodies (P = 0.021). Ophiasic pattern and nail involvement were observed more frequently in patients with atopy (P < 0.05). Relapse was more frequent in patients with atopy (P = 0.002) and nail involvement (P = 0.02). Conclusions We observed that the presence of autoantibodies was associated with more extensive AA, and that ophiasic hair loss pattern and nail dystrophy were significantly associated with atopy. Topical clobetasol propionate treatment produced a modest advantage in hair regrowth as compared with placebo. Notably, atopic AA patients have a higher risk of relapse and redevelopment of AA after completing a course of topical corticosteroid treatment.     

Multiple regenerative nodular hyperplasia in the left infrarenal vena cava accompanied by abernethy malformation

The current study presents the case of a 19-year-old male patient who was detected with an increased alanine aminotransferase and aspartate transaminase levels during a preoperative evaluation of the right inguinal hernia operation and was later found to have Abernethy malformation accompanied by multiple regenerative nodular hyperplasia and left intra renal inferior vena cava. Regenerative nodular hyperplasia accompanying these two abnormalities is extremely rare and to the best of our knowledge, such a case has not been reported to date. Abdominal ultrasound (US) and color Doppler US, dynamic abdominal magnetic resonance imaging (MRI), and portography examinations were performed and a type 2 abernethy malformation, partial malrotation of the inferior vena cava, and regenerative nodular hyperplasia were detected. We aimed to discuss the radiological signs of these two accompanying abnormalities with a literature review.     

Identification and Characterization of the Insecticidal Toxin “Makes Caterpillars Floppy” in Photorhabdus temperata M1021 Using a Cosmid Library

Photorhabdus temperata is an entomopathogenic enterobacterium; it is a nematode symbiont that possesses pathogenicity islands involved in insect virulence. Herein, we constructed a P. temperata M1021 cosmid library in Escherichia coli XL1-Blue MRF` and obtained 7.14 × 10⁵ clones. However, only 1020 physiologically active clones were screened for insect virulence factors by injection of each E. coli cosmid clone into Galleria mellonella and Tenebrio molitor larvae. A single cosmid clone, PtC1015, was consequently selected due to its characteristic virulent properties, e.g., loss of body turgor followed by death of larvae when the clone was injected into the hemocoel. The sequence alignment against the available sequences in Swiss-Prot and NCBI databases, confirmed the presence of the mcf gene homolog in the genome of P. temperata M1021 showing 85% homology and 98% query coverage with the P. luminescens counterpart. Furthermore, a 2932 amino acid long Mcf protein revealed limited similarity with three protein domains. The N-terminus of the Mcf encompassed consensus sequence for a BH3 domain, the central region revealed similarity to toxin B, and the C-terminus of Mcf revealed similarity to the bacterial export domain of ApxIVA, an RTX-like toxin. In short, the Mcf toxin is likely to play a role in the elimination of insect pests, making it a promising model for use in the agricultural field.     

A rare case of synchronous leiomyosarcoma and urothelial cancer of the bladder

We report a case of a 44-year-old woman who had coexisting distinct and separate primary tumors of the bladder: a leiomyosarcoma and a transitional cell carcinoma (urothelial cancer). The patient presented with macroscopic hematuria. A computed tomography scan of the pelvis showed a bladder mass along the left anterolateral wall. A transurethral resection of the bladder was performed. A pathological examination revealed that the mass was leiomyosarcoma. The patient underwent radical cystectomy with ileal conduit diversion. The urinary cystectomy specimen revealed an 11 cm x 6 cm x 5 cm solid mass on the left anterolateral wall and two 1-cm papillary tumors with different localization on the right and left lateral walls of the urinary bladder. Pathological examination revealed that the masses were high-grade leiomyosarcoma and urothelial cancer. Because of the differences in the histogenesis and prognosis, such cases should be differentiated from cases of carcinosarcoma of the urinary bladder. Synchronous occurrence of urothelial cancer and sarcoma as two separate primary tumors in the bladder is very rare. To our knowledge, seven cases of coexisting sarcoma and transitional cell carcinoma of the urinary bladder have been reported in the literature.     

Factor V Leiden mutation and other thrombophilia markers in childhood ischemic stroke.

The aim of this study was to evaluate the association between ischemic childhood stroke and thrombophilia. The prevalence of thrombophilia risk factors in 30 unrelated children with ischemic stroke were compared with 33 age-matched control subjects. Patients and control group were tested for the presence of activated protein C (APC) resistance, antiphospholipid antibodies (APLA), increased factor VIII levels, and for the deficiency of protein C (PC), protein S (PS), and antithrombin. When APCR was detected in patients or in controls, factor V Leiden (FVL) mutation was also tested. Seventeen of 30 patients (56.6%) had at least one thrombophilia marker compared with only 5 of 33 control subjects (15.1%). Three children with ischemic stroke (10%) were affected with a combination of two or more thrombophilia markers whereas none of the children in the control group had a combination of risk factors. Seven of 30 children with ischemic stroke (23.3%) and one of 33 control subjects (3.03%) had APC resistance and in all of them FVL mutation were found. The prevalence of FVL mutation was higher among pediatric stroke patients than among control subjects (p < 0.05). None of the patients but one child from the control group (3.03%) had PS deficiency. Antithrombin and PC deficiencies and the presence of APLA and increased factor VIII levels were more frequent in the pediatric stroke patients than in controls but the difference was not statistically significant (p > 0.05). These data confirm that stroke in children is commonly associated with a combination of multiple risk factors and especially the prevalence of FVL mutation is increased in children with ischemic stroke compared with control subjects.