Calcium and cadmium are divalent metals and have similar chemical properties. Both can enter cells through, albeit different, channels, or through protein-dependent permeation. However, cadmium disturbs the calcium homeostasis by inhibiting calcium channels and/or related proteins. Cadmium can also alter membrane phospholipid concentrations, and so induce a calcium homeostasis disorder. The altered calcium homeostasis induced by cadmium results in cell apoptosis, autophagy or tumorigenesis. In this review, calcium homeostasis disruption is summarized as a bridge connecting cadmium-induced apoptosis, autophagy, and tumorigenesis.

The development of simple, accurate, rapid and cost-effective technologies for mutation detection is crucial to the early diagnosis and prevention of numerous genetic diseases, pharmacogenetics, and drug resistance. Proofreading PCR (PR-PCR) was developed for mutation detection in 1998 but is rarely applied due to its low efficiency in allele discrimination. Here we developed a modified PR-PCR method using a ddNTP-blocked primer and a mixture of DNA polymerases with and without the 3'-5' proofreading function. The ddNTP-blocked primer exhibited the best blocking efficiency to avoid nonspecific primer extension while the mixture of a tiny amount of high-fidelity DNA polymerase with a routine amount of Taq DNA polymerase provided the best discrimination and amplification effects. The modified PR-PCR method is quite capable of detecting various mutation types, including point mutations and insertions/deletions (indels), and allows discrimination amplification when the mismatch is located within the last eight nucleotides from the 3'-end of the ddNTP-blocked primer. The modified PR-PCR has a sensitivity of 1-5 × 102 copies and a selectivity of 5 × 10-5 mutant among 107 copies of wild-type DNA. It showed a 100% accuracy rate in the detection of P72R germ-line mutation in the TP53 gene among 60 clinical blood samples, and a high potential to detect rifampin-resistant mutations at low frequency in Mycobacterium tuberculosis using an adaptor and a fusion-blocked primer. These results suggest that the modified PR-PCR technique is effective in detection of various mutations or polymorphisms as a simple, sensitive and promising approach.

No abstract

No abstract

BackgroundMany studies have demonstrated that the genetic variants of tumor suppressor gene TP53 contribute to the prediction of breast cancer risk. However, most of them focused on Europeans and Americans; the investigations about Asians, especially Chinese women, are scarce. Thus, the aim of this study was to explore the influence of TP53 codon 72 and intron 3 16-bp duplication polymorphisms on the breast cancer risk in Chinese women, especially those from eastern China.MethodsBlood samples collected from 254 breast cancer patients and 252 healthy female individuals were investigated. Genotypes of the two polymorphisms were determined by direct sequencing and conventional PCR, respectively.ResultsHeterozygous Arg/Pro and homozygous Del/Del were the most frequent genotypes of the two polymorphisms, respectively. Heterozygous Arg/Pro had a higher prevalence in breast cancer cases (Padj = 0.10; ORadj = 1.43, 95% CI 0.93–2.18), and no homozygous 16-bp duplication (Ins/Ins) genotype was found in the whole 506 clinical samples. For the distributions of allele and haplotype frequencies, no statistically significant difference was observed between the two groups when multiple (additive, dominant and recessive) genetic models were utilized in the analysis (Padj > 0.05).ConclusionThe results suggested that the two TP53 polymorphisms did not affect breast cancer risk in Chinese Han women, but the heterozygous Arg/Pro may exist as the possible risk genotype of the codon 72 polymorphism in contrast to the homozygous Arg/Arg and Pro/Pro.Electronic supplementary materialThe online version of this article (10.1186/s40001-018-0345-6) contains supplementary material, which is available to authorized users.

Marfan syndrome is a multisystem connective tissue disorder of autosomal dominant inheritance, which typically involves manifestations of the cardiovascular, skeletal, and ocular systems. Pulmonary involvement occurs less frequently. We report a case of a 28-year-old woman suffering from hours of sudden onset, progressive shortness of breath and right-sided chest pain. On physical examination, she presented decreased breath sound on the right side of chest, together with severe scoliosis and marfanoid habitus. The chest computed tomography (CT) suggested hydropneumothorax in right lung. Computer tomographic angiography (CTA) of aorta showed aneurysm-like aortic root dilation at 52 mm with mild to moderate aortic regurgitation. Marfan syndrome was diagnosed and David I operation and bullectomy were performed. showed aneurysm-like aortic root dilation at 52 mm with mild to moderate aortic regurgitation, mild mitral valve prolapses with mild to moderate mitral valve regurgitation.According to the 2010 Revised Ghent Nosology for Marfan syndrome (6), the patient was diagnosed as Marfan syndrome and she presented the following situations: (I) suspected family history; (II) aneurysm-like aortic root dilation at 52 mm in diameter; (III) severe scoliosis (>20°); (IV) characteristic facial appearance: enophthalmos, dolichocephaly, underdeveloped cheekbones; (V) severe myopia >3 diopters; (VI) spontaneous pneumothorax; (VII) arachnodactyly; (VIII) mild to moderate mitral valve prolapse; (IX) positive wrist sign ( Figure 1A).Surgical repair of the thoracic aorta (David operation) and bullectomy were undertaken as treatments for severe aortic root dilation (7,8) and progressive pneumothorax after Marfan syndrome was diagnosed. Intraoperative transesophageal echocardiography showed dilations in aortic sinus and ascending aorta. There was mild to moderate aortic valve regurgitation without thickening or calcification of aortic valves. With the patient positioned supine, operative exposure was obtained via median sternotomy. The aneurysmlike aortic sinus was exposed and there were dilations of aortic sinus at 55 mm and of ascending aorta at 28 mm in diameter. Intracardiac exploratory operation showed aneurysm-like aortic sinus dilation at 55 mm in diameter without thickening of aortic valves or restriction of valve movements. The patient underwent David I operation and the aortic sinus was replaced with an artificial tube graft of 32 mm in diameter. Via opening the right mediastinal pleura, the exploration of the right chest cavity was achieved and the bullectomy was performed by using endoscopic staplers.The patient underwent an event-free recovery and was discharged 20 days post-operatively. Chest X-ray showed less pneumothorax after the surgery. DiscussionThe case introduced a patient with undiagnosed Marfan syndrome who was admitted to hospital due to spontaneous pneumothorax as an initial symptom. The diagnosis of Marfan syndrome was based on her marfanoid habitus, imaging characteristics and the history of sev...

BACKGROUND Acute appendicitis is one of the most common acute abdominal emergencies around the world, which is always associated with infection. Infection with Salmonella typhi , an enteric pathogen, is a rare cause of acute appendicitis. We here report a patient with acute appendicitis associated with Samonella typhi infection, accompanied with spleen and kidney infarction, providing a rare example for a common surgical emergency. CASE SUMMARY A 25-year-old Pakistani man presented to the hospital with a 3-d history of fevers, vomiting, and abdominal pain. Computed tomography (CT) revealed a thickened intestinal wall of the ileocecal junction with multiple enlarged lymph nodes nearby. He was diagnosed with acute appendicitis and received laparoscopic appendectomy, which showed mild inflammation of the appendix. After the surgery, the patient presented again with a high fever (> 39 °C) and diarrhea. A CT angiography scan indicated spleen and kidney infarction. According to the blood culture, the diagnosis was finally clear to be Samonella typhi infection. The pyrexia and enteric symptoms were relieved after the application of intravenous levofloxacin. CONCLUSION This case, characterized by the combination of Salmonella typhi infection, acute appendicitis, and renal and splenic infraction, serves as a rare example for a common surgical emergency.

No abstract