Tumor necrosis factor-α -308 G>A and interleukin-6 -174 G>C promoter polymorphisms and pemphigus

The objective of this study was to analyze the possible involvement of the tumor necrosis factor (TNF)-α -308 G>A and interleukin-6 (IL-6) -174 G>C polymorphisms in the susceptibility and/or disease profile of pemphigus in Egyptian patients. Detection of TNF-α -308 G>A by amplification refractory mutation system and IL-6 -174 G>C by restriction fragment length polymorphism was performed for 70 patients and 203 controls. No significant differences were observed in the distribution of TNF-α -308 in pemphigus patients and controls. However, GA+AA genotypes were more frequent in pemphigus vulgaris (PV) patients only versus controls (p(c) = 0.046). The frequency of the C allele and CC/GC genotypes of IL-6 -174 was significantly higher in pemphigus patients and those with the 2 major clinical forms (PV and pemphigus foliaceus [PF]) compared with controls (p < 0.05). Comparison of the distribution of TNF-α -308 and IL-6 -174 variants in relation to clinical type of pemphigus (PV versus PF), activity score, recurrence, and demographic data of patients revealed no significant associations. The IL-6 -174 CC genotype represents a marker of increased susceptibility to pemphigus in Egyptian patients and GG genotype can be considered a low-risk genotype; TNF-α -308 A-containing genotypes contribute to the susceptibility to PV only.     

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism

Stoppa‐Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J‐M, Deladoëy J, Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. Familial recurrence risks are poorly understood in cases of de novo mutations. In the event of parental germ line mosaicism, recurrence risks can be higher than generally appreciated, with implications for genetic counseling and clinical practice. In the course of treating a female with pubertal delay and hypergonadotropic hypogonadism, we identified a new missense mutation in the SRY gene, leading to somatic feminization of this karyotypically normal XY individual. We tested a younger sister despite a normal onset of puberty, who also possessed an XY karyotype and the same SRY mutation. Imaging studies in the sister revealed an ovarian tumor, which was removed. DNA from the father's blood possessed the wild type SRY sequence, and paternity testing was consistent with the given family structure. A brother was 46, XY with a wild type SRY sequence strongly suggesting paternal Y‐chromosome germline mosaicism for the mutation. In disorders of sexual development (DSDs), early diagnosis is critical for optimal psychological development of the affected patients. In this case, preventive karyotypic screening allowed early diagnosis of a gonadal tumor in the sibling prior to the age of normal puberty. Our results suggest that cytological or molecular diagnosis should be applied for siblings of an affected DSD individual.     

Phenotypic and genotypic detection of extended spectrum β-lactamases among Escherichia coli and Klebsiella pneumoniae isolates from type 2 diabetic patients with urinary tract infections

BackgroundT2DM patients are more likely to have UTIs caused by resistant organisms such as ESBLs producing bacteria. Challenging reliable identification and prompt characterization of in-vitro susceptibilities of these bacteria are the first steps of deciding the appropriate antimicrobial therapy for UTIs caused by them.ObjectivesTo isolate and identify E. coli and K. pneumoniae from urine of T2DM patients with UTIs, to determine antibiotic resistance pattern among isolates, and to identify ESBLs production phenotypically and genotypically.Material and methodAll samples were cultured on Cystine-Lactose-Electrolyte-Deficient Agar medium (CLED) by using calibrated loop. Growth of 100 colonies or more, i.e. 105 colony forming units (CFU)/mL urine was considered as significant bacteriuria. Isolation and identification were done according to standard method. All isolates were tested for antibiotic susceptibility testing by the disc diffusion method according to CLSI guidelines. Phenotypic detection of ESBLs was done by double-disk synergy test. Genotypic detection of blaTEM, blaSHV and blaCTX-M genes by using PCR.ResultsResults of this study showed that E. coli and K. pneumoniae were the dominant bacterial isolates, they constituted 103 (91.2%) out of 113 urine isolates. E. coli (58. 4%) K. pneumoniae (32.7%), Enterococcus spp. (4.4%), Proteus spp. (2.7%) and Pseudomonas spp. (1.8%). About 25 (24.3%) out of 103 E. coli and K. pneumoniae isolates were ESBLs positive by DDST, and 22 (88.0%) out of them had ESBLs encoding genes by conventional PCR. The most common gene detected was blaTEM (59.1%), followed by blaSHV (27.3%). CTX-M had not been detected in any of testes isolates.ConclusionblaTEM and blaSHV genes were detected in 22 out of 25 ESBLs producing E. coli and K. pneumoniae isolates phenotypically detected by DDST. blaTEM was found to be the predominant gene (59.1%), while blaCTX-Mene was not detected in any of tested isolates.     

脊柱骨巨细胞瘤误诊1例

发生于骶骨以上的脊柱骨巨细胞瘤罕见[1],关于其CT表现仅见零星个案报道。我院误诊1例,报告如下。患者男性,20岁。胸背部疼痛2月,加重伴双下肢麻木10天入院。病史中无明显咳嗽、潮热、盗汗现象。外院X线及CT提示第5胸椎体结核伴椎旁冷脓肿形成。专科检查:胸椎活动受限,尤以屈曲位为明显,第5胸椎处叩压痛明显,局部无明显畸形及包块,剑突平面以下痛觉略减退,双下肢踝阵挛阳性,双膝反射、踝反射亢进。实验室检查:肝功、肾功、电解质、CEA、AFP及血、尿常规均无异常,入院时ESR:41mm/h,1周后复查ESR:16mm/h,2周后复查ESR:37mm/h。影像表…     

Striated intramural gallbladder lucencies on US studies: predictors of acute cholecystitis

Ultrasound scans of 51 consecutive patients with gallbladder wall thickening were reviewed, and specific sonographic features were correlated with surgical and clinical follow-up. Two patterns of thickening were identified as specific indicators of the presence or absence of acute cholecystitis. "Striated" wall thickening, consisting of several alternating, irregular, discontinuous, lucent and echogenic bands, was seen in eight of 13 patients (62%) with acute cholecystitis. This pattern was not encountered in any of the patients who did not have acute cholecystitis. Conversely, "three-layer" thickening, consisting of a single circumferential lucent zone between two relatively uniform echogenic layers, was seen in only one of 13 patients (8%) with acute cholecystitis but in 11 of 38 patients (29%) with other diagnoses. Other abnormalities, including the presence of intramural echogenic foci and wall irregularities, were more frequently seen in patients with acute cholecystitis but were not as helpful. Use of these features may suggest or help exclude a diagnosis of acute cholecystitis in those patients in whom the cause of gallbladder wall thickening is otherwise not apparent.     

Speech-controlled generation of radiology reports

Voice entry has been successfully employed to generate radiology reports with a word recognizer with a 1,000-word lexicon capacity. About 50% of reports were able to be dictated with a single 900-word lexicon. This was split into five sections by anatomic or subspecialty application. Each was augmented to 900 words. By switching from one lexicon to another, it was possible to dictate more than 70% of reports. With exclusive use of three lexicons in subspecialty areas (gastrointestinal radiology, neuroradiology, and mammography), and with further modification of the respective vocabulary, it has been possible to employ the system 88% of the time. Twelve percent of cases included wording that was beyond the scope of the lexicon. Computer subsets that allow different translations of some words when used in different contexts have been used. Some of these are used as triggers that will print whole lines, sentences, or even complete reports. Dictation times with voice entry take about 20% longer. Recognition reliability has been greater than 95%.     

Delayed hepatic CT scanning: increased confidence and improved detection of hepatic metastases

Fifty oncologic patients with suspected hepatic metastases were prospectively evaluated by dynamic sequential hepatic computed tomography (DSHCT) and by delayed iodine hepatic computed tomography (DICT) scanning. DICT scanning was performed 4-6 hours following administration of 60 g of intravenous iodine. Both techniques were evaluated for lesion definition relative to the adjacent hepatic parenchyma and for numbers of metastases detected. Metastases were detected by both techniques in 26 patients. Fifteen patients (58%) had lesions better defined by DICT. DICT scanning detected more metastases in seven of these 15 patients. In eight patients (31%), there was no difference between the two techniques in numbers of masses detected or lesion definition. In three cases (11%), metastases were more confidently identified on the initial or DSHCT scan. DICT scanning, as described, is useful in defining and detecting hepatic metastases, especially where there is questionable hepatic involvement or better quantification of size is necessary.     

Malignant uveal melanoma and simulating lesions: MR imaging evaluation

Twenty-one patients with intraocular disease were studied by magnetic resonance (MR) imaging and computed tomography (CT). In 13 cases, malignant uveal melanoma was considered the likely diagnosis. Both imaging methods were accurate in determining the location and size of uveal melanomas. MR imaging was superior for the assessment of possible associated retinal detachment, for assessment of vitreous change, and for differentiating uveal melanoma from choroidal hemangioma and choroidal detachment. A case of retinal gliosis could not be differentiated from uveal melanoma by either technique. Uveal melanomas appeared as hyperintense lesions on T1-weighted images and as hypointense lesions on T2-weighted images. High signal intensity of the vitreous was observed in patients with vitritis and in those who were thought to have protein leaking into the vitreous as a result of impairment of the retinal-blood barrier.