The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: follow-up of a family for five years.

Hereditary gingival fibromatosis (HGF) is characterized by the slowly progressive fibrous enlargement of gingival tissue. It usually develops as an isolated disorder but can also be one feature of various syndromes. The currently preferred terminology of these syndromes mainly describes the clinical features of the disorder without identifying the cause. In this report, we present the 5-year follow up of a family with HGF and features of 3 previously described syndromes: Jones syndrome, Zimmerman-Laband syndrome, and HGF-hypertrichosis syndrome. The 45-year-old father had HGF, hypertrichosis, hearing loss, and short stubby fingers and toes with hypoplasia of the terminal phalanges and hypoplasia of the nails on the thumbs. The features of 13-year-old son were almost identical to those of his father except for hypertrichosis, but in addition he was mentally retarded. Although the 10-day-old son had HGF and defective fingers, the mother and 7-year-old daughter were unaffected. Owing to the overlap of these syndromes, we argue that the identification of the genetic pathways and mechanisms will be the most important factor in classifying these disorders, with the phenotype playing a minor role.     

p53 alterations in oesophageal cancer: association with clinicopathological features, risk factors, and survival.

AIM: To characterise the spectrum of p53 alterations (gene mutations and protein accumulation) in a consecutive series of surgically resected oesophageal cancers, and to evaluate associations with clinicopathological findings (age, sex, tumour histology, grade, and stage), potential risk factors (alcohol, tobacco, hot beverage consumption, history of gastrooesophageal reflux disease and antacid use), and survival. METHODS: The case series comprised 61 sequentially accrued patients with primary oesophageal carcinomas. Genomic DNA was extracted from banked (frozen) tumours and matched normal mucosal tissue; p53 mutations (exons 4-10) were studied by means of polymerase chain reaction (PCR)/single strand conformation polymorphism (SSCP) analysis and DNA sequencing. Immunohistochemistry (DO7, CM1) was used to assess cell nuclear p53 protein accumulation. Risk factor data, overall and disease free survival were measured prospectively, and analysis was carried out at the univariate level using Kaplan-Meier survival curves with log rank tests, and in multivariate analysis using Cox's proportional hazards models (parsimonious and fully adjusted). RESULTS: p53 mutations were found in 59% (36 of 61) and p53 protein accumulation was detected in 39% (24 of 61) of oesophageal cancers. Eighty eight per cent (23 of 26) of poorly differentiated tumours had p53 alterations compared with 57% (20 of 35) of moderate/well differentiated tumours (odds ratio (OR) = 5.575; p = 0.013). p53 mutations increased significantly with increasing consumption of hot beverages (measured by the average temperature of beverage, number consumed daily, and an index made by multiplying the two variables together) using both univariate (OR = 18.6; p = 0.0025) and multivariate (OR = 24.5; p = 0.0025) analysis. p53 alterations were associated with reduced disease free and overall survival (p = 0.051, log rank), with a univariate (unadjusted) hazard ratio (HR) of 2.241 (95% confidence limits (CL) = 0.973, 5.159; p = 0.058) for overall survival. By multivariate analysis adjusted for other relevant variables, the HR for tumours with p53 alterations was estimated at 2.913 (95% CL = 1.069, 7.936; p = 0.036) for overall survival. CONCLUSIONS: This study reports novel p53 mutations (exon 10), and an association between increasing consumption of hot beverages as a risk factor for p53 mediated oesophageal cancer. p53 is a potentially useful prognostic marker in this disease.     

The role of Casoni’s skin test and indirect haemagglutination test in the diagnosis of hydatid disease

Casonis skin test and indirect haemagglutination test (IHA) are still used in Turkey. The preoperative IHA test or Casonis skin test results of 120 patients with surgically confirmed hydatidosis were retrospectively studied during 1997–2004. At the same period, 306 patients with non-hydatid disease had serologic results for echinococcosis. The sensitivity of immediate intradermal reaction, delayed intradermal reaction, and IHA were 70, 62, and 56%, respectively. Casonis skin test components had higher sensitivity than IHA (P<0.01). The specificity of immediate intradermal reaction, delayed intradermal reaction, and IHA were 87, 85, and 84%, respectively. Cystic lesions in non-hydatid patients were localised commonly in the lungs. The occurrence of hydatid disease for pulmonary, hepatic, and renal cysts was 19, 54, and 5%, respectively. An immediate skin reaction to crude hydatid antigens is more useful than IHA.     

Psychosocial Correlates of Monocyte Activation and HIV Persistence in Methamphetamine Users

This cross-sectional study investigated the associations of psychosocial factors relevant to recovery from substance use disorders with monocyte activation and HIV persistence in a sample of 84 HIV-positive, methamphetamine-using sexual minority men with undetectable HIV viral load (<40 copies/mL). We examined if psychosocial factors were associated with decreased soluble CD14 (sCD14) and lower proviral HIV DNA. Multiple linear regression models adjusted for age, anti-retroviral therapy regimen, and CD4+ T-cell count. Time on ART was also included in models examining proviral HIV DNA. Greater self-efficacy for managing methamphetamine triggers and higher social support for abstinence were independently associated with lower sCD14. Greater social support for abstinence was also independently associated with lower proviral HIV DNA. Psychosocial factors relevant to recovery from substance use disorders are associated with lower monocyte activation and decreased proviral HIV DNA. Findings underscore the need for longitudinal research to identify plausible mechanisms linking psychosocial factors and substance use with biological processes relevant to HIV pathogenesis.

     

Breast cancer,ovarian gonadoblastoma and cervical cancer in a patient with Peutz-Jeghers Syndrome

BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Patients with PJS have increased risk for gastrointestinal, breast, and female genital tract cancers. CASE: Multiple genital tract cancers in a 34-year-old woman with PJS are described. The patient, who was admitted to our department with severe vaginal bleeding, was performed right salpingo-oophorectomy because of pure gonadoblastoma in 1996. In 2003, concomitant to cervical carcinoma, breast cancer was diagnosed. Patient underwent left modified radical mastectomy due to the invasive papillary carcinoma. The patient received six cycles combination chemotherapy and radiation therapy because of stage IIIB cervical cancer. CONCLUSION(S): This is the first case report presenting PJS associated with multiple genital tract tumors including ovarian gonadoblastoma in literature. The clinical significance of these tumors in PJS patients has been reviewed.     

A randomized controlled trial of preinsertion ultrasound guidance for spinal anaesthesia in pregnancy: outcomes among obese and lean parturients

Purpose

The present study was conducted to examine if preinsertion lumbar ultrasound scanning helps with performance of spinal puncture, as a tool for decreasing the number of puncture attempts and spinal procedure time and increasing the success rate. We hypothesized that ultrasound can facilitate neuraxial blockade, particularly in pregnant women with difficult topographic anatomy.

Methods

One hundred (50 lean, BMI <30 kg/m², and 50 obese, BMI ≥30 kg/m²) parturients scheduled for cesarean delivery were divided into ultrasound and control groups. Subarachnoid block was performed with prepuncture ultrasound examination in lean parturients (group 1, n = 25) and in obese parturients (group 2, n = 25), and subarachnoid block was performed without prepuncture ultrasound examination in lean parturients (group 3, n = 25) and in obese parturients (group 4, n = 25). The number of puncture attempts and puncture levels were recorded.

Results

A lower number of puncture attempts and fewer puncture levels were detected in ultrasound (US) groups (p < 0.001). First attempt success rate under US guidance was 92 % in comparison to 44 % using a conventional technique in obese parturients (p < 0.001). In 52 % of the lean patients and in 54.2 % of the obese patients, the intercristal line was at the L3–L4 and at the L2–L3 interspace, respectively. The duration of spinal procedure was shorter in US groups (22 vs. 52 s, p = 0.031). We found a high correlation between ultrasound and needle depth (r = 0.709, p < 0.001).

Conclusions

We found a high level of success in the prepuncture ultrasound-determined insertion point. The ultrasound imaging technique can be a reliable guide to facilitate spinal anesthesia, especially in obese parturients.     

Microsatellite instability is not a common feature in medullary breast cancer

Microsatellite instability (MSI) is a form of genomic instability associated with defective DNA mismatch repair in tumors. MSI is found in 85-90% of hereditary nonpolyposis colorectal cancer cases; however, its occurrence in breast carcinogenesis still remains to be clarified. In addition, data are limited on the incidence of MSI in the medullary subtype. The purpose of this study was to investigate the occurrence of MSI in medullary breast cancer (MBC). The study included a total of 16 patients with MBC, nine with typical and seven with atypical histology. The incidence of MSI in five microsatellite loci (D2S123, D3S1611, D17S807, D17S796 and Xq11-12) was determined by comparing paired normal and tumor tissue DNA after PCR amplification from paraffin-embedded tissues. All 16 tumors showed stability at five loci. Although the number of microsatellite markers and DNA samples may limit the value of our results, we conclude that the MSI phenotype is uncommon in human MBC.     

Multiscale analysis of SRY-positive 46,XX testicular disorder of sex development: Presentation of nine cases

46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims to reveal the phenotype to genotype correlation in a series of sex-determining region Y (SRY)-positive 46,XX TDSD cases. We present the clinical findings, hormone profiles and genetic test results of six patients with SRY-positive 46,XX TDSD and give the details and follow-up findings of our three of previously published patients. All patients presented common characteristics such as azoospermia, hypergonadotropic hypogonadism and an SRY gene translocated on the terminal part of the short arm of one of the X chromosomes. Mean ± standard deviation (SD) height of the patients was 164.78 ± 8.0 cm. Five patients had decreased secondary sexual characteristics, and three patients had gynaecomastia with varying degrees. Five of the seven patients revealed a translocation between protein kinase X (PRKX) and inverted protein kinase Y (PRKY) genes, and the remaining two patients showed a translocation between the pseudoautosomal region 1 (PAR1) of X chromosome and the differential region of Y chromosome. X chromosome inactivation (XCI) analysis results demonstrated random and skewed XCI in 5 cases and 1 case, respectively. In brief, we delineate the phenotypic spectrum of patients with SRY-positive 46,XX TDSD and the underlying mechanisms of Xp;Yp translocations.     

Does auditory tube angle really affect childhood otitis media and size of the mastoid?

Objective

To assess the cross-sectional area of mastoid air cells and auditory tube angles (ATA), which were defined as the angles between the longitudinal line bisecting the transverse length of the external auditory canal and the longitudinal axis of the auditory tube (AT), both in healthy ears and diseased ears in patients with unilateral chronic otitis media (COM).

Methods

25 patients who had unilateral COM were included in the study. Assessment was performed using a quantitative digital image processing computer tomography (CT) program.

Study design

Prospective study with institutional review board approval including adult patients who had otological symptoms since their childhood period.

Results

Mastoid areas were greater on the healthy side than on the diseased side (p < 0.05). ATA were not significantly different among groups (p > 0.05). When we compared ATA with mastoid area in each group; there were no significant correlations in both healthy group and COM group (p > 0.05). Mastoid size in COM group was smaller than in the healthy group.

Conclusion

We suggest that middle ear inflammations in childhood may affect mastoid size but, the anatomic relationships of the auditory tube, mastoid and middle ear that form a functional unit may not be significantly important in chronic ear disease.