ABSTRACT
BACKGROUND: An impact of chronic lymphocytic thyroiditis (CLT) on papillary thyroid cancer (PTC) outcome has long been advocated but it is still controversial. PURPOSE: The aim of this study was to evaluate the prognostic value of CLT in a retrospective cohort of PTC patients and to characterize the lymphocytic subpopulations and infiltrate (LI). MATERIALS AND METHODS: We assessed 375 PTC patients, aged 45.2 ± 16.4 years, and treated with thyroidectomy and radioiodine remnant ablation, with a mean follow-up of 6.28 ± 3.86 years. In a subgroup of patients (n = 81) tissue sections were reviewed for the presence of CLT or lymphocytes associated with tumor in absence of background thyroiditis (TAL); cytotoxic CD8+/regulatory Foxp3+ T lymphocyte (CD8+/Foxp3+) ratio was characterized by immunohistochemistry: a low ratio is suggestive of a less effective anti tumor immune response. RESULTS: Seventy-five/375 patients (20%) had a histological diagnosis of CLT and showed at the last follow-up a significantly better outcome compared to those with no CLT (cure rate: 91.8 versus 76.3%, p = 0.003). LI was characterized in 81 PTC patients (24 with CLT and 57 with TAL): the peri-tumoral CD8+/Foxp3+ ratio was lower in patients not cured at the final evaluation. CONCLUSIONS: Our data suggest that concurrent CLT has a protective effect on PTC outcome and that the imbalance between cytotoxic and regulatory T lymphocytes in the peri-tumoral TAL may affect the tumor-specific immune response favoring a more aggressive behavior of cancer.
Subject(s)
Carcinoma, Papillary/immunology , Forkhead Transcription Factors/metabolism , Hashimoto Disease/immunology , T-Lymphocytes/immunology , Thyroid Neoplasms/immunology , Thyroidectomy , Adolescent , Adult , Aged , Aged, 80 and over , Carcinoma, Papillary/complications , Carcinoma, Papillary/surgery , Child , Child, Preschool , Female , Follow-Up Studies , Hashimoto Disease/complications , Hashimoto Disease/surgery , Humans , Male , Middle Aged , Prognosis , Retrospective Studies , Thyroid Neoplasms/complications , Thyroid Neoplasms/surgery , Young AdultABSTRACT
OBJECTIVES: The study was performed to evaluate the incidence of post-surgical adverse events at submerged implant sites as well as the antiplaque, antigingivitis and antistaining effects in the entire dentition of patients treated with two mouthwashes. METHODS: The present randomized controlled clinical study considered 40 patients subjected to dental implant treatment. Two 0.12% chlorhexidine mouthwashes were compared for 15 days: one with 0.1% hyaluronic acid (CHXâHYL group) and one without it (CHX group). Surgical outcome variables, and plaque, gingival, and staining indexes were recorded. RESULTS: Significant differences were found between the two rinses regarding the presence of oedema within 2 days after surgery (20% for the CHXâHYL group and 78% for the CHX group). No other significant differences were recorded between the two mouthwashes. No intergroup differences in plaque, staining and gingivitis indexes were registered. The intragroup analysis revealed that for the plaque and gingival indexes, the differences between the baseline values (before surgery) and those at 15 days were all found to be significant just for CHXâHYL rinse, with final values ranging from 0.18 to 0.23 for the plaque index and from 0.06 to 0.07 for the gingival index. The staining index increased for both mouthwash types with significant results (with final value of 0.19 and 0.31 for CHXâHYL and CHX groups, respectively). CONCLUSIONS: In the sites of patients subjected to dental implant placement, an additional anti-oedematigenous effect in early healing seemed to be disclosed for 0.12% CHXâHYL mouthwash. Regarding antiplaque and antigingivitis activities, HYL seemed to be ineffective.
Subject(s)
Anti-Infective Agents, Local/therapeutic use , Chlorhexidine/therapeutic use , Dental Implants, Single-Tooth , Hyaluronic Acid/therapeutic use , Mouthwashes/therapeutic use , Wound Healing/drug effects , Adult , Aged , Anti-Infective Agents, Local/administration & dosage , Chlorhexidine/administration & dosage , Dental Implantation/adverse effects , Dental Implantation/methods , Dental Implants, Single-Tooth/adverse effects , Dental Plaque/prevention & control , Female , Gingivitis/prevention & control , Humans , Hyaluronic Acid/administration & dosage , Male , Middle AgedABSTRACT
BACKGROUND AND PURPOSE: Intratumoral calcifications are very important in the diagnosis of retinoblastoma. Although CT is considered superior in detecting calcification, its ionizing radiation, especially in patients with hereditary retinoblastoma, should be avoided. The purpose of our study was to validate T2*WI for the detection of calcification in retinoblastoma with ex vivo CT as the criterion standard. MATERIALS AND METHODS: Twenty-two consecutive patients with retinoblastoma (mean age, 21 months; range, 1-71 months) with enucleation as primary treatment were imaged at 1.5T by using a dedicated surface coil. Signal-intensity voids indicating calcification on T2*WI were compared with ex vivo high-resolution CT, and correlation was scored by 2 independent observers as poor, good, or excellent. Other parameters included the shape and location of the signal-intensity voids. In 5 tumors, susceptibility-weighted images were evaluated. RESULTS: All calcifications visible on high-resolution CT could be matched with signal-intensity voids on T2*WI, and correlation was scored as excellent in 17 (77%) and good in 5 (23%) eyes. In total, 93% (25/27) of the signal-intensity voids inside the tumor correlated with calcifications compared with none (0/8) of the signal-intensity voids outside the tumor. Areas of nodular signal-intensity voids correlated with calcifications in 92% (24/26), and linear signal-intensity voids correlated with hemorrhage in 67% (6/9) of cases. The correlation of signal-intensity voids on SWI was better in 4 of 5 tumors compared with T2*WI. CONCLUSIONS: Signal-intensity voids on in vivo T2*WI correlate well with calcifications on ex vivo high-resolution CT in retinoblastoma. Gradient-echo sequences may be helpful in the differential diagnosis of retinoblastoma. The combination of funduscopy, sonography, and high-resolution MR imaging with gradient-echo sequences should become the standard diagnostic approach for retinoblastoma.
Subject(s)
Calcinosis/pathology , Magnetic Resonance Imaging/methods , Retinal Neoplasms/pathology , Retinoblastoma/pathology , Tomography, X-Ray Computed , Calcinosis/diagnostic imaging , Child , Child, Preschool , Diagnosis, Differential , Female , Humans , Image Processing, Computer-Assisted , Infant , Male , Retinal Neoplasms/diagnostic imaging , Retinoblastoma/diagnostic imagingABSTRACT
The placement of implants in the posterior maxillary area is considered a reliable procedure, offering recognized rehabilitative advantages. The aim of this study was to evaluate the performance of dental implants placed in the sinus floor augmented with a block autograft by comparing the outcomes over 5 years with those of dental implants positioned in non-augmented bone. This retrospective cohort study included 16 patients who had undergone prosthetic rehabilitation supported by dental implants between 2000 and 2006. One implant per patient was included and assigned to one of two predictor groups: grafted versus ungrafted maxillary sinus. Changes in marginal bone level (MBL) and apical bone level (ABL) over time, at 1, 3, and 5 years, were the primary outcome variables. Appropriate pair-wise comparison tests were performed. No significant differences were seen with regard to ABLs and among times between the grafted group (nine implants) and the ungrafted group (seven implants). Significant marginal bone resorption was found over time, primarily at the buccal aspect, in both study groups. The bone surrounding the apex of dental implants appeared stable after sinus augmentation in the grafted area. The behaviour of the two groups with regard to loss of MBLs over time was very similar.
Subject(s)
Bone Remodeling , Dental Implantation, Endosseous , Dental Implants , Maxillary Sinus/surgery , Adult , Bone Transplantation , Dental Prosthesis Retention , Dental Restoration Failure , Female , Humans , Male , Maxillary Sinus/diagnostic imaging , Maxillary Sinus/pathology , Middle Aged , Retrospective Studies , Tomography, X-Ray Computed , Transplantation, Autologous , Treatment OutcomeABSTRACT
INTRODUCTION: Chorioamnionitis is a gestational pathological condition characterized by acute inflammation of the amniochorionic membranes and placentas leading to high concentrations of IL-1ß, Il-6, Il-8 and TGF-ß in the amniotic fluid. In normal conditions, the permeability of foeto-maternal barrier is due to the assembly and maintenance of different cellular junctional domains. METHODS: In the present study, first we aimed to evaluate the protein expression (by immunohistochemistry and western blotting) and mRNA (by real time PCR) levels of the molecular components of tight junctions (Zonula occludens-1 and occludin), and of adherent junctions (VE-cadherin and ß-catenin) in placentas from chorioamnionitis compared to that in normal pregnancies. RESULTS: Western blotting results showed a significant down-regulation of occludin in placentas affected with chorioamnionitis. No differences were detected for the other proteins analysed. We evaluated whether occludin expression was regulated by IL-1ß, IL-6, IL-8 and TGF-ß by means of in vitro studies using HUVEC cultures and demonstrated a key role of IL-1ß and TGF-ß in the disappearance of occludin at cellular border. CONCLUSIONS: We conclude by suggesting a pivotal role of these two cytokines in facilitating intra-placental infection via para-cellular way due to the disassembly of tight junctions at trophoblastic and endothelial cells in placental tissues.
Subject(s)
Chorioamnionitis/physiopathology , Interleukin-1beta/physiology , Placenta/physiology , Tight Junctions/physiology , Transforming Growth Factor beta/physiology , Antigens, CD/genetics , Antigens, CD/metabolism , Cadherins/genetics , Cadherins/metabolism , Case-Control Studies , Cell Membrane Permeability , Chorioamnionitis/genetics , Chorioamnionitis/pathology , Cytokines/metabolism , Female , Human Umbilical Vein Endothelial Cells , Humans , Immunohistochemistry , Maternal-Fetal Exchange , Occludin/genetics , Occludin/metabolism , Placenta/physiopathology , Pregnancy , RNA, Messenger/genetics , RNA, Messenger/metabolism , Tight Junctions/pathology , Zonula Occludens-1 Protein/genetics , Zonula Occludens-1 Protein/metabolism , beta Catenin/genetics , beta Catenin/metabolismABSTRACT
BACKGROUND AND PURPOSE: Intralesional calcium deposition is considered a key element for differentiating retinoblastoma from simulating lesions. Our aim was to assess whether MR imaging associated with ophthalmologic investigations (ophthalmoscopy and ultrasonography) could replace CT in the detection of diagnostic intralesional calcifications in retinoblastoma. MATERIALS AND METHODS: Ophthalmoscopic findings, MR images, CT scans, and histologic examination of 28 retinoblastomas from 23 consecutive children (11 males, 12 females; age range at admission, 1-35 months; mean age, 11 months; median age, 9 months) were retrospectively evaluated. Ultrasonography was performed in 18 patients with 21 retinoblastomas. MR imaging included T2-weighted spin-echo and gradient-echo images, fluid-attenuated inversion recovery images, and T1-weighted spin-echo images with and without contrast enhancement. Clinical data were integrated with MR imaging data to evaluate the utility of both approaches to discover calcifications; particularly, a correlation between intralesional signal-intensity void spots on MR imaging and hyperattenuating areas on CT scans was performed. RESULTS: Ophthalmoscopy detected calcifications in 12 of 28 eyes (42.85%). Ultrasonography detected calcifications in 20 of 21 eyes (95.23%). CT showed hyperattenuating intralesional areas consistent with calcifications in 27 of 28 eyes (96.42%). MR imaging showed intralesional signal-intensity void spots in 25 of 28 eyes (89.28%). All spots detected with MR imaging matched the presence of calcifications on CT scans. Gradient-echo T2*-weighted and fast spin-echo T2-weighted images showed the highest degree of correlation with CT. When we put together ophthalmoscopy, ultrasonography, and MR imaging data, no calcifications detected on CT were missed, and the differential diagnosis was thorough. CONCLUSIONS: A combination of clinical data and MR images may remove potentially harmful ionizing radiation from the study protocol of retinoblastoma.
Subject(s)
Calcinosis/diagnostic imaging , Retinal Neoplasms/diagnostic imaging , Retinoblastoma/diagnostic imaging , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Radiography , Reproducibility of Results , Sensitivity and SpecificityABSTRACT
The aim of the present retrospective chart review was to determine the relationship between nonvascularized osseous graft remodeling and the three-dimensional (3D) features of grafts and recipient sites, the anatomical recipient regions and different graft sources. 32 iliac crest or chin grafts were onlay-positioned in the mandible or maxilla of 14 patients. CT scans, taken before implant positioning and after 1 year, revealed a mean volume resorption of 35-51%. For iliac crest grafts, the average resorption was 42% when the onlay was positioned in the anterior maxilla and 59% when it was positioned in the posterior mandible. Spearman correlation and 3D interpolation analysis revealed, for both iliac crest groups, a moderate or advanced remodeling pattern depending on 3D features, namely graft thickness and shape, basal bone volume of recipient site, and the basal bone/graft volume ratio of the recipient site. No statistically significant differences were found between the recipient and donor site groups. Retrospective analysis of the data indicates that iliac crest grafts, onlay-positioned on adequate basal bone volume, may register a reduced volume remodeling when shaped thick in the anterior maxilla or rounded and convex, on the external surface, in the posterior mandible.
Subject(s)
Alveolar Ridge Augmentation , Bone Density , Bone Remodeling , Bone Transplantation/pathology , Dental Implantation, Endosseous , Adult , Alveolar Bone Loss , Alveolar Ridge Augmentation/methods , Chin/surgery , Female , Humans , Ilium/surgery , Male , Mandibular Diseases/diagnostic imaging , Mandibular Diseases/surgery , Maxillary Diseases/diagnostic imaging , Maxillary Diseases/surgery , Middle Aged , Radiography , Retrospective StudiesABSTRACT
The aim of the present survey was to assess neurosensory disturbances and/or tooth-pulp sensitivity losses after mandibular parasymphyseal bone-harvesting procedures. Twenty-eight harvesting areas in 16 patients were surveyed. Mucosal and skin sensitivity of the chin/lower lip, divided into four regions, were determined via Pointed-Blunt and Two-Point-Discrimination Tests. Pulp sensitivity of the mandibular teeth from the left second bicuspid to the right second bicuspid was tested by cold vitality preoperatively and 12 months postoperatively. Teeth were grouped according to sensitivity alterations and distance from the harvesting defects, as measured on CT scans, and statistically significant differences sought. At 12 months, 29% of preoperatively vital cuspids overlying the harvesting defects revealed pulp-sensitivity losses; no patient reported anaesthesia or analgesia; hypoaesthesia was present in 4% (8 sites; 2 patients), hypoalgesia was present in 3% (5 sites; 2 patients) and Two-Point-Discrimination Tests yielded pathologic responses in 5% of tested areas (10 sites; 4 patients). Teeth with and without pulp sensitivity changes were statistically indistinguishable regarding distances between root apices or mental foramen and the harvesting defect. The loss of pulp sensitivity in any tooth cannot be predicted simply on the basis of the distance between its apex and the harvesting osteotomy line.
Subject(s)
Cranial Nerve Injuries/etiology , Hypesthesia/etiology , Mandible/surgery , Postoperative Complications , Tissue and Organ Harvesting/adverse effects , Trigeminal Nerve Injuries , Adult , Bone Transplantation/adverse effects , Bone Transplantation/methods , Chi-Square Distribution , Chin/innervation , Cuspid/injuries , Cuspid/innervation , Dental Pulp/injuries , Dental Pulp/innervation , Female , Humans , Longitudinal Studies , Male , Middle Aged , Osteotomy/adverse effects , Osteotomy/methods , Statistics, Nonparametric , Tissue and Organ Harvesting/methods , Transplantation, AutologousABSTRACT
Non-medullary thyroid carcinoma (NMTC) is mostly sporadic, but familial clustering is described. We aimed to compare the features of patients with sporadic and familial NMTC (FNMTC) patients and to assess whether FNMTC patients with parent-child relationship exhibit the 'anticipation' phenomenon (earlier age at disease onset and increased severity in successive generations). Among 300 NMTCs followed in the Section of Endocrinology (University of Siena, Italy), 34 (11.3%) patients, all with the papillary histotype, (16 kindred), met the criteria of FNMTC. Twenty-seven of them (79.4%) exhibited a parent-child relationship and seven (20.6%) a sibling relationship. These patients were compared with 235 patients with sporadic papillary thyroid cancer (PTCs). To analyze the features of FNMTC of the first and second generations, we cumulated the series of Siena with 32 additional FNMTC patients (15 kindred) from the Department of Endocrinology-Endocrine Oncology, Thessaloniki, Greece. Significant difference between sporadic PTC and FNMTC patients included more frequent tumor multifocality (P=0.001) and worse final outcome in FNMTC patients (P=0.001). Among 47 FNMTC with parent-child relationship, we found an earlier age at disease presentation (P<0.0001), diagnosis (P<0.0001), and disease onset (P=0.04) in the second generation when compared with the first generation. Patients in the second generation were more frequently males (P=0.02); their tumors were more frequently multifocal (P=0.003) and bilateral (P=0.01), had higher rate of lymph node metastases at surgery (P=0.02) and worse outcome (P=0.04) when compared with the first generation. In conclusion, FNMTC displays the features of clinical 'anticipation' with the second generation acquiring the disease at an earlier age and having more advanced disease at presentation.
Subject(s)
Adenoma, Oxyphilic/pathology , Carcinoma, Papillary/pathology , Thyroid Neoplasms/pathology , Adenoma, Oxyphilic/genetics , Adenoma, Oxyphilic/surgery , Adolescent , Adult , Aged , Aged, 80 and over , Carcinoma, Papillary/genetics , Carcinoma, Papillary/surgery , Child , Female , Genetic Predisposition to Disease , Humans , Infant , Lymphatic Metastasis , Male , Middle Aged , Neoplasm Recurrence, Local/diagnosis , Prognosis , Retrospective Studies , Thyroid Neoplasms/genetics , Thyroid Neoplasms/surgery , Thyroidectomy , Young AdultABSTRACT
BACKGROUND: An acute thymic involution in human fetuses and newborns has been described in very-low-birth-weight (VLBW) infants with histological chorioamnionitis. However, the mechanisms of thymic involution remain to be clarified. Here, we tested the hypothesis that an activation of the hypothalamic-pituitary-adrenal (HPA) axis occurs in VLBW infants with acute thymic involution at birth. METHODS: A total of 180 randomly selected VLBW newborns (28.8 +/- 3.15 wk gestation; 1093 +/- 305 g) entered the study. Thymic size was measured on standard chest radiographs at birth, and expressed as the ratio between the transverse diameter of the cardiothymic image at the level of the carina (CT) and that of the thorax (T). CT/T < 0.28 was considered to indicate a small thymic size. Plasma cortisol and adrenocorticotropic hormone (ACTH) concentrations were determined on days 1 (d-1) and 7 (d-7), and at 1 month (mo-1). Results. A total of 66 (36.7%) newborns had CT/T < 0.28. Infants with small thymus had significantly increased cortisol on d-1 ( approximately 5.2-folds) [median: 18.95 (95% CI: 11.20-39.4) microg/dl vs. 3.66 (1.94-6.82) microg/dl, p < 0.0001)] and d-7( approximately 1.7-folds) [12.0 (4.39-22.97) microg/dl vs. 7.8 (3.63-12.8) microg/dl, p = 0.0384)], as compared with those with normal thymic size, together with higher adrenocorticotropic hormone (ACTH) concentrations on d-1 ( approximately 1.9-folds) [28 (15.6-61.07) pg/ml vs. 14.9 (9.0-23.42) pg/ml, p = 0.0005)], while no significant differences for cortisol at mo-1 or ACTH concentrations on d-7 and mo-1 were evidenced (p > 0.50). From a multivariate logistic regression analysis, a small thymus at birth was a significant independent predictor of plasma cortisol concentrations in the top-quartile (OR = 14.4; 95% CI: 6.079-34.11), and plasma ACTH concentrations in the top-quartile (OR = 4.40 (95% CI: 1.99-9.74) on d-1 (results adjusted for variables significant at univariate analysis). CONCLUSIONS: Our data indicated the presence of a previously unrecognized, early activation of the HPA axis in VLBW newborns with a small thymus at birth.
Subject(s)
Hypothalamo-Hypophyseal System/physiology , Infant, Very Low Birth Weight/physiology , Pituitary-Adrenal System/physiology , Thymus Gland/physiopathology , Adrenocorticotropic Hormone/blood , Cross-Sectional Studies , Female , Humans , Hydrocortisone/blood , Infant, Newborn , Male , Odds Ratio , Thymus Gland/anatomy & histologyABSTRACT
PURPOSE: The authors present a case, studied through in vivo confocal microscopy, of concomitant keratoconus and macular corneal dystrophy (MCD). METHODS: A 29-year-old man underwent a penetrating keratoplasty in the right eye in May 2005. Confocal microscopy was performed to examine the cornea of the right eye. RESULTS: A diagnosis of concomitant keratoconus and MCD was suspected, due to the simultaneous findings of corneal ectasia and stromal opacities. CONCLUSIONS: In this case, using in vivo confocal microscopy, morphologic changes were detected in many corneal layers and compared with the histopathologic findings. The morphologic alterations were found mainly in the area of the cornea apex.
Subject(s)
Cornea/pathology , Corneal Dystrophies, Hereditary/pathology , Keratoconus/pathology , Adult , Corneal Dystrophies, Hereditary/complications , Diagnosis, Differential , Humans , Keratoconus/complications , Male , Microscopy, ConfocalABSTRACT
Survivors of retinoblastoma (Rb) are at high risk of dying from second malignant tumour. The occurrence of second malignant neoplasm (SMN) and related mortality in a cohort of 1111 cases from the Italian Retinoblastoma Registry was analysed, considering the possible role of both genetic and iatrogenic causes. Rb patients had a greater than 10-fold excess in overall mortality compared with the general population (standardized mortality ratio (SMR) 10.73, 95% CI 9.00-12.80). Their excess risk attributable to cancers other than Rb was 14.93 95% CI 10.38-21.49). Survivors of hereditary Rb had an SMR for all causes of 16.25 (95% CI 13.20-20.00), whereas their SMR for all cancers was 25.72 (95% CI 17.38-38.07). Survivors of unilateral sporadic Rb had an SMR of 4.12 from all cancers (95% CI 1.55-10.98) and a much higher excess for overall mortality (SMR 13.34, 95% CI 10.74-16.56). As expected, survivors of hereditary Rb had higher mortality from cancers of the bone (SMR 391.90, 95% CI 203.90-753.20) and soft tissue (SMR 453.00, 95% CI 203.50-1008.40), small intestine (SMR 1375.50, 95% CI 344.00-5499.70), nasal cavity (SMR 13.71, 95% CI 1.93-97.35) and cancers of the brain and central nervous system (SMR 41.14, 95% CI 13.2-127.55).
Subject(s)
Neoplasms, Second Primary/mortality , Retinal Neoplasms/pathology , Retinoblastoma/pathology , Cohort Studies , Functional Laterality , Germ-Line Mutation , Humans , Italy , Registries , Retinal Neoplasms/genetics , Retinoblastoma/genetics , Survival Analysis , SurvivorsABSTRACT
PURPOSE: To report two cases of bilateral retinoblastoma (RB) with unusual presentations. METHODS: The medical records of 321 patients from the Retinoblastoma Referral Center in Siena were reviewed. A total of 111 patients had bilateral RB, 2 of them presenting with phthisis bulbi and buphthalmos. Both patients underwent bilateral enucleation. Clinical features, imaging studies, and histopathology were reviewed. RESULTS: These 2 cases represent 0.62% (2/321) in our series. Histopathology did not reveal viable tumor cells in the phthisical eyes; in both buphthalmic eyes the tumor was active, infiltrating the choroid and optic nerve. CONCLUSIONS: Phthisis bulbi and buphthalmos are unusual presenting signs of RB. This very rare combination of these two signs in different eyes of the same patient is probably due to a delay in diagnosis.
Subject(s)
Hydrophthalmos/diagnosis , Orbital Diseases/diagnosis , Retinal Neoplasms/diagnosis , Retinoblastoma/diagnosis , Child, Preschool , Female , Humans , Infant , Magnetic Resonance Imaging , Tomography, X-Ray ComputedABSTRACT
The present study investigated whether trophoblast, decidua and fetal membranes express nerve growth factor (NGF) mRNA and peptide. Tissue specimens were collected in the first and third trimester of pregnancy from women undergoing voluntary pregnancy interruption (no.= 6; from 8 to 12 gestational weeks) and from women having an elective caesarean section at term (no.= 6; week 39-40 of pregnancy). Using reverse transcriptase-polymerase chain reaction (RT-PCR), trophoblast, amnion/chorion and maternal decidua showed the expression of NGF mRNA both in early gestation and at term. By immunohistochemistry, the immunoreactive NGF was found in the cyto and syncytial trophoblast cells, chorionic mesodermic cells and in decidua. Vessel endothelial cells were stained in maternal compartments, while fetal vessels were unstained. These results, showing the expression and localization of NGF, support the current concept that human placenta is a potent neuroendocrine organ throughout gestation.
Subject(s)
Decidua/metabolism , Extraembryonic Membranes/metabolism , Nerve Growth Factor/biosynthesis , Nerve Growth Factor/genetics , RNA, Messenger/metabolism , Trophoblasts/metabolism , Female , Humans , Pregnancy , Pregnancy Trimester, First/physiology , Pregnancy Trimester, Third/physiology , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
PURPOSE: To report a case of pleomorphic adenoma of the lacrimal gland following irradiation for bilateral retinoblastoma. MATERIALS AND METHODS: Case report. A 4-month-old girl, with bilateral retinoblastoma, underwent enucleation of the right eye, systemic chemotherapy and bilateral external beam irradiation with a lateral field. The right anophthalmic socket (because of infiltration of the optic nerve) and the left eye (for relapse) were irradiated;. 17 years later, she developed a mass in the superotemporal quadrant of the left orbit. The mass was completely excised. RESULTS: Pleomorphic adenoma is rare in children and teenagers; it usually presents as a painless, slow growing mass in healthy adults. In this case, it developed as a second primary tumor after irradiation for retinoblastoma.
Subject(s)
Adenoma, Pleomorphic/pathology , Lacrimal Apparatus/pathology , Neoplasms, Radiation-Induced/pathology , Retinal Neoplasms/radiotherapy , Retinoblastoma/radiotherapy , Retinoblastoma/secondary , Adenoma, Pleomorphic/surgery , Adolescent , Biopsy, Needle , Eye Enucleation , Female , Follow-Up Studies , Humans , Immunohistochemistry , Magnetic Resonance Imaging , Neoplasms, Radiation-Induced/surgery , Radiotherapy, Adjuvant , Retinal Neoplasms/pathology , Retinal Neoplasms/surgery , Retinoblastoma/surgery , Risk Assessment , Time Factors , Treatment OutcomeABSTRACT
Human adrenocortical cells have been shown to express cytokeratins and vimentin. Nestin is an intermediate filament protein that is mainly expressed in the developing nervous system and that has been recently reported in rat adrenal gland as well. Using immunohistochemical and biochemical approaches, the present study demonstrates that nestin is constantly expressed in situ in the cortex of normal human adrenal glands. Nestin expressing cells were prevalently located in the zona reticularis but some positive cells could be spotted in the zona fasciculata as well. Moreover, patches of nestin-positive cells have been constantly detected on sections of cortical adenomas. In contrast, adrenal carcinomas displayed a variable number of nestin-immunoreactive cells that in some cases were virtually absent. Samples of renal clear cell carcinoma metastasis in the adrenals were also examined which did not show nestin-immunoreactivity. We propose that a positive nestin-immunoreaction could be useful in differential diagnosis of clear cell tumors in adrenal glands.
Subject(s)
Adrenal Cortex Neoplasms/metabolism , Adrenal Glands/metabolism , Adrenal Glands/pathology , Intermediate Filament Proteins/biosynthesis , Nerve Tissue Proteins/biosynthesis , Adenocarcinoma, Clear Cell/metabolism , Adenocarcinoma, Clear Cell/pathology , Adrenal Cortex Neoplasms/pathology , Adult , Aged , Aged, 80 and over , Blotting, Western , Case-Control Studies , Electrophoresis, Polyacrylamide Gel , Female , Humans , Intermediate Filament Proteins/genetics , Male , Middle Aged , Nerve Tissue Proteins/genetics , Nestin , Retrospective StudiesABSTRACT
Rett syndrome is an X-linked neurodevelopmental dominant disorder that affects almost exclusively girls. The vast majority of cases are sporadic and are caused by de novo mutations in the MECP2 gene, located in Xq28. Only few familial cases have been reported: in four cases, the mother was an asymptomatic carrier and in other four cases, the germline mosaicism in the mother was postulated. Owing to the above reported cases of germline mosaicism, we decided to offer prenatal diagnosis to all expectant mothers with a Rett daughter despite the absence of the causative mutation in parents' blood. We describe here the outcome of the first nine cases of prenatal diagnosis followed by our center. In eight cases, the fetus did not carry the mutation. In one case, the female fetus did carry the same mutation of the affected sister. The couple decided to interrupt the pregnancy and to devolve fetal tissues for research purposes. Our results indicate that prenatal diagnosis should be proposed to all couples with a Rett daughter, even when the mutation is apparently de novo. Moreover, one positive prenatal test among the first nine cases indicates that germline mosaicism may be seriously considered for the assessment of recurrence risk during genetic counseling.
Subject(s)
Germ-Line Mutation , Prenatal Diagnosis , Rett Syndrome/diagnosis , Rett Syndrome/genetics , Adult , Child, Preschool , DNA Mutational Analysis , Female , Genetic Counseling , Humans , Male , Mosaicism , Pedigree , PregnancyABSTRACT
Activin A is a placental glycoprotein and possible biological actions during pregnancy, suggested by experimental data, are the modulation of cytotrophoblast differentiation, placental hormonogenesis and uterotonins secretion. Follistatin-related gene (FLRG) is a 70 amino acids protein which binds activin A with high affinity, and which modulates its biological effects on target tissues by preventing the activin A interaction with its receptors. The present study investigated whether trophoblast, decidua and fetal membranes express FLRG mRNA (by RT-PCR) and peptide (by immunohistochemistry). Tissue specimens were collected at first and third trimester of pregnancy, from patients undergoing voluntary pregnancy interruption (no.=6; from 8 to 12 gestational weeks) and elective caesarean section at term (no.=6; 39-40 weeks of pregnancy). FLRG mRNA was expressed by the various gestational tissues both at early gestation and at term pregnancy. Immunoreactive protein was found in the trophoblast cells, epithelial amniotic and chorionic cells and maternal decidua; nevertheless, the most intense FLRG stain was detected in the walls of decidual and placental blood vessels. In conclusion, FLRG mRNA and peptide are expressed by placenta and fetal membranes. Its different immunolocalization with respect to follistatin and activin A supports a different role for FLRG in modulating activin A actions into gestational tissues.
Subject(s)
Extraembryonic Membranes/metabolism , Follistatin-Related Proteins/biosynthesis , Follistatin-Related Proteins/genetics , Placenta/metabolism , RNA, Messenger/biosynthesis , Adult , Chorionic Villi/metabolism , Decidua/metabolism , Female , Gene Expression Regulation , Humans , Immunohistochemistry , Pregnancy , Pregnancy Trimester, First , Pregnancy Trimester, Third , Reverse Transcriptase Polymerase Chain Reaction , Trophoblasts/metabolismABSTRACT
The diagnosis of Ehlers-Danlos syndrome is based on distinctive phenotypical characteristics such as hyperelastic skin and hypermobile joints. To date, no congenital physical markers exist for identifying patients with Ehlers-Danlos syndrome. Absence of the inferior labial (100% sensitivity; 99.4% specificity) and lingual frenulum (71.4% sensitivity; 100% specificity) was found to be associated with classical and hypermobility types of Ehlers-Danlos syndrome.
Subject(s)
Ehlers-Danlos Syndrome/diagnosis , Labial Frenum/abnormalities , Lingual Frenum/abnormalities , Adolescent , Adult , Diagnosis, Differential , Ehlers-Danlos Syndrome/genetics , Female , Humans , Male , Middle Aged , Sensitivity and SpecificityABSTRACT
A significant association with asymptomatic joint hypermobility was observed in 37 children with a history of infantile hypertrophic pyloric stenosis (P =.0016) and their parents (mothers, P <.0001; fathers, P <.05). The subjects with articular hypermobility showed an increased frequency of absent mandibular frenulum, thereby suggesting the presence of a previously unrecognized, systemic abnormality of the extracellular matrix.