STUDY DESIGN: Retrospective study. PURPOSE: To analyze the quantitative anatomy of C7 vertebra for insertion of lateral mass screws and pedicle screws in Southern Chinese patients. OVERVIEW OF LITERATURE: C7 lateral mass is smaller when compared to other subaxial cervical levels, which limits the length of lateral mass screws that can be used. Some studies have suggested pedicle screws for better fixation. But, this option is limited by the narrow pedicle width. METHODS: We have obtained computed tomography (CT) cervical spine data in 0.625 mm slices from our radiology department. The patients were adults. CTs were from May to August, 2015. The lateral mass screw length was measured using Margerl's technique and pedicle width and pedicle screw trajectory were determined in three-dimensional reformated images. RESULTS: CT scans of cervical spines of 94 patients were obtained and 188 lateral masses and pedicles of C7 vertebrae were measured. The mean lateral mass screw length was 13.2 mm (standard deviation [SD] 1.6 mm), mean outer pedicle width was 5.9 mm (SD 1.0 mm) and mean pedicle screw trajectory was 29.4 degrees (SD 3.6 degrees). Most (91.0%) of the pedicles had an outer diameter ≥4.5 mm. CONCLUSIONS: The mean lateral mass screw length was longer when compared with other similar studies, while the mean outer pedicle width was narrower. Nearly 10% of the pedicles were unable to accommodate 3.5 mm screws. These findings favor the use of lateral mass screws to provide a safe and stable fixation for C7 vertebrae in Southern Chinese patients, while the final choice of fixation method should only be confirmed after careful preoperative planning with CT scan.
Adult ; Asian Continental Ancestry Group* ; Humans ; Methods ; Pedicle Screws* ; Retrospective Studies ; Spine* ; Tomography, X-Ray Computed

BACKGROUNDVon Hippel-Lindau (VHL) syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various organs. The genetic basis of VHL in Southern Chinese is largely unknown. In this study, we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese families.

METHODSNine probands with clinical features of VHL, two symptomatic and eight asymptomatic family members were included in this study. Prenatal diagnosis was performed twice for one proband. Two probands had only isolated bilateral phaeochromocytoma. The VHL gene was screened for mutations by polymerase chain reaction, direct sequencing and multiplex ligation-dependent probe amplification (MLPA).

RESULTSThe nine probands and the two symptomatic family members carried heterozygous germline mutations. Eight different VHL mutations were identified in the nine probands. One splicing mutation, NM_000551.2: c.463+1G > T, was novel. The other seven VHL mutations, c.233A > G [p.Asn78Ser], c.239G > T [p.Ser80Ile], c.319C > G [p.Arg107Gly], c.481C > T [p.Arg161X], c.482G > A [p.Arg161Gln], c.499C > T [p.Arg167Trp] and an exon 2 deletion, had been previously reported. Three asymptomatic family members were positive for the mutation and the other five tested negative. In prenatal diagnosis, the fetuses were positive for the mutation.

CONCLUSIONSGenetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary cystadenoma. Mutation detection in asymptomatic family members allows regular tumour surveillance and early intervention to improve their prognosis. DNA-based diagnosis can have an important impact on clinical management for VHL families.

Asian Continental Ancestry Group ; DNA Mutational Analysis ; Humans ; Polymerase Chain Reaction ; Sequence Analysis, DNA ; Von Hippel-Lindau Tumor Suppressor Protein ; genetics ; von Hippel-Lindau Disease ; genetics

OBJECTIVETo identify genes expressed in the fetal heart that are potentially important for myocardial development and cardiomyocyte proliferation.

METHODSmRNAs from fetal (29 weeks) and adult cardiomyocytes were use for suppression subtractive hybridization (SSH). Both forward (fetal as tester) and reverse (adult as driver) subtractions were performed. Clones confirmed by dot-blot analysis to be differentially expressed were sequenced and analyzed.

RESULTSDifferential expressions were detected for 39 out of 96 (41%) clones on forward subtraction and 24 out of 80 (30%) clones on reverse. For fetal dominating genes, 28 clones matched to 10 known genes (COL1A2, COL3A1, endomucin, HBG1, HBG2, PCBP2, LOC51144, TGFBI, vinculin and PND), 9 clones to 5 cDNAs of unknown functions (accession AK021715, AF085867, AB040948, AB051460 and AB051512) and 2 clones had homology to hEST sequences. For the reverse subtraction, all clones showed homology to mitochondrial transcripts.

CONCLUSIONSWe successfully applied SSH to detect those genes differentially expressed in fetal cardiac myocytes, some of which have not been shown relative to myocardial development.

Aged ; Cells, Cultured ; Collagen ; Collagen Type I ; Collagen Type III ; genetics ; DNA-Binding Proteins ; genetics ; Forkhead Transcription Factors ; Gene Expression ; physiology ; Heart ; embryology ; growth & development ; Heterogeneous-Nuclear Ribonucleoproteins ; genetics ; Humans ; Nerve Tissue Proteins ; genetics ; Nucleic Acid Hybridization ; RNA-Binding Proteins ; Transcription Factors ; Transforming Growth Factor beta ; genetics ; Transforming Growth Factor beta1 ; Vinculin ; genetics

Although rare, hepatic artery aneurysms are associated with a high morbidity and mortality, necessitating a prompt diagnosis. A significant proportion of hepatic artery aneurysms are pseudoaneurysms, and the major risk factors of which have already been identified in previous literatures. Presentation can be variable, but diagnosis almost relies entirely on computed tomography and digital subtraction angiography. The endovascular approach has progressively become the preferred option due to its better performance when compared to the traditional surgical approach. However, formulation of an endovascular treatment plan for these lesions remains difficult as multiple factors should be considered to identify the best endovascular treatment modality. Five cases of pseudoaneurysm due to recent Whipple operation, hepatobiliary infections, and underlying malignancy are presented in this article to illustrate the effectiveness and complexity of endovascular treatment in this disease entity.

OBJECTIVE: We wanted to report on our experience with modified radiology-guided percutaneous gastrostomy (MRPG) without endoscopic or nasogastric access for treating patients with complete obstruction of the upper digestive tract. MATERIALS AND METHODS: Fourteen oncology patients (13 had hypopharyngeal cancer and 1 had upper esophageal cancer) with complete obstruction of the upper digestive tract were recruited. Conventional percutaneous endoscopic gastrostomy (PEG) and radiologic (fluoroscopy-guided) percutaneous gastrostomy (RPG) were not feasible in all the patients. An MRPG technique (with a combination of ultrasound, an air enema and fluoroscopic guidance) was performed in these patients. RESULTS: We achieved successfully percutaneous gastrostomy using the modified technique in all patients without any major or minor complications after the procedure. CONCLUSION: A modified radiology-guided percutaneous gastrostomy technique can be safely performed in patients who failed to receive conventional PEG or RPG due to the absence of nasogastric access in the completely obstructed upper digestive tract.
Adult ; Aged ; Conscious Sedation ; Contrast Media/diagnostic use ; Esophageal Neoplasms/radiography/*surgery ; Female ; Gastrostomy/*methods ; Humans ; Intestinal Obstruction/radiography/*surgery ; Iothalamate Meglumine/diagnostic use ; Laryngeal Neoplasms/radiography/*surgery ; Male ; Middle Aged ; Radiography, Interventional ; Retrospective Studies ; Upper Gastrointestinal Tract/radiography/*surgery

PURPOSE: Proline, glutamic acid, and leucine-rich protein 1 (PELP1), a novel nuclear receptor (NR) co-regulator, is highly expressed in breast cancer. We investigated its expression in breast cancer subtypes, in comparison with other breast markers as well as cancers from different sites. Its prognostic relevance with different subtypes and other NR expression was also examined in breast cancers. MATERIALS AND METHODS: Immunohistochemical analysis was performed on totally 1,944 cancers from six different organs. RESULTS: PELP1 expression rate was the highest in breast cancers (70.5%) among different cancers. Compared to GATA3, mammaglobin and gross cystic disease fluid protein 15, PELP1 was less sensitive than GATA3 for luminal cancers, but was the most sensitive for non-luminal cancers. PELP1 has low expression rate (<20%) in colorectal cancers, gastric cancers and renal cell carcinomas, but higher in lung cancers (49.1%) and ovarian cancers (42.3%). In breast cancer, PELP1 expression was an independent adverse prognostic factor for non-luminal cancers (disease-free survival [DFS]: hazard ratio [HR], 1.403; p=0.012 and breast cancer specific survival [BCSS]: HR, 1.443; p=0.015). Interestingly, its expression affected the prognostication of androgen receptor (AR). AR(pos)PELP1(lo) luminal cancer showed the best DFS (log-rank=8.563, p=0.036) while AR(neg)PELP1(hi) non-luminal cancers showed the worst DFS (log-rank=9.536, p=0.023). CONCLUSION: PELP1 is a sensitive marker for breast cancer, particularly non-luminal cases. However, its considerable expression in lung and ovarian cancers may limit its utility in differential diagnosis in some scenarios. PELP1 expression was associated with poor outcome in non-luminal cancers and modified the prognostic effects of AR, suggesting the potential significance of NR co-regulator in prognostication.
Breast Neoplasms ; Breast ; Carcinoma, Renal Cell ; Colorectal Neoplasms ; Diagnosis, Differential ; Glutamic Acid ; Immunohistochemistry ; Lung ; Lung Neoplasms ; Ovarian Neoplasms ; Phenobarbital ; Prognosis ; Proline ; Receptors, Androgen ; Stomach Neoplasms