Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects

Background

Hemihyperplasia (hemihypertrophy) is defined as asymmetric body overgrowth of one or more body parts. Hemihyperplasia can be isolated or be part of well-defined syndromes such as in the case of Beckwith-Wiedemann syndrome (BWS). Isolated hemihyperplasia is usually sporadic, but a number of familial occurrences have been described.

Case presentation

We describe a Tunisian family in which three maternal cousins and their maternal grandfather present with isolated hemihyperplasia.

Conclusions

The etiology of isolated hemihyperplasia is unknown although in BWS, genomic imprinting has been shown to play a role in the asymmetric overgrowth. Given the similarity between these two conditions, it is possible that both may share a common pathogenesis. We also discuss the possible genetic mechanisms leading to the production of hemihyperplasia in this family.     

Universal Collection Medium (UCM) is as suitable as the Standard Transport Medium (STM) for Hybrid Capture II (HC-2) assay.

BACKGROUND: Collection of cervical-vaginal material in liquid media enables simultaneous evaluation of both oncologic cytology and molecular tests for the detection of Human papillomavirus (HPV), Chlamydia trachomatis (CT) and Neisseria gonorrhoeae (NG). Universal Collection Medium (UCM) has been developed to fulfill this objective. OBJECTIVES: To compare Hybrid Capture II (HC-2) to diagnose HPV, NG and CT in specimens collected in UCM and in the current Digene Standard Transport Medium (STM). STUDY DESIGN: The study was cross-sectional. Three collections of endocervical and ectocervical material were performed in each of 893 women referred for colposcopy in the following order: (1) to prepare a conventional Pap smear slide using the accompanying brush of the STM kit and with Ayre spatula; (2) for HC-2 test and liquid-based cytology using a 1 ml UCM vial as transport medium; material was collected with another similar brush; (3) for HC-2 test using a 1 ml STM vial as transport medium; material was collected with the same brush that we used in the procedure no. (1) (conventional Pap smear). HC-2 results from samples taken from STM and UCM media were compared by using simple linear regression analysis and Kappa statistic. RESULTS AND CONCLUSIONS: HC-2 results from the two media were highly correlated: high-risk HPV (kappa=0.92; r(2)=0.92), low-risk HPV (kappa=0.85; r(2)=0.86) and NG/CT (kappa=0.96; r(2)=0.81). Despite being obtained from a second specimen, the UCM HC-2 results were equivalent to those obtained with the standard medium STM and the UCM medium.     

Bilateral immediate two-stage breast reconstruction in patients with unilateral breast cancer: Outcomes analysis and risk assessment

IntroductionContralateral prophylactic mastectomy has the potential to decrease the occurrence of cancer and reduce psychological burden. However, it is known that complications after bilateral mastectomy are higher compared with unilateral mastectomy. Our goal was to evaluate outcomes of immediate breast reconstruction in patients undergoing bilateral mastectomy and to compare complication rates between therapeutic and prophylactic sides.Patients and MethodsElectronic medical records of patients with unilateral breast cancer who underwent bilateral mastectomy and immediate reconstruction with expanders were reviewed. Postoperative complications were compared between therapeutic and prophylactic mastectomy sides.ResultsSixty-two patients were analyzed. The overall complication rate after both stages was 23.9% on the therapeutic side and 16.5% on the prophylactic side. Infection was the most common complication on both sides. All infections on the prophylactic mastectomy side were successfully treated with intravenous (IV) antibiotics (salvage rate of 100%), whereas 35.7% of infected tissue expander/implants on the therapeutic mastectomy side were explanted despite treatment.ConclusionCareful counselling of patients undergoing elective contralateral prophylactic mastectomy is essential as complications can develop in either breast after reconstruction.     

Immunohistochemical analysis of c-erbB-2, Bcl-2, p53, p21WAF1/Cip1, p63 and Ki-67 expression in hydatidiform moles

Hydatidiform moles (HM) are characterized by an abnormal proliferating trophoblast with a potential for a malignant transformation. Similar to other human tumors, trophoblastic pathogenesis is likely a multistep process involving several molecular and genetic alterations. The study was performed to investigate the expression patterns of c-erbB-2 and Bcl-2 oncoproteins, p53, p21^WAF1/CIP1 and p63 tumor suppressor proteins and Ki-67 cell proliferation marker in HM.We conducted a retrospective study of 220 gestational products, including 39 hydropic abortions (HA), 41 partial HM (PHM) and 140 complete HM (CHM). The expression of c-erbB-2, Bcl-2, p53, p21^WAF1/CIP1, p63 and Ki-67 was investigated by immunohistochemistry on archival tissues. c-erbB-2 expression was observed in three PHM and 10 CHM. Bcl-2 immunostaining was significantly higher in PHM (61%) and CHM (70.7%) compared with HA (7.7%, p?=? 0.001 and p?<? 0.0001, respectively). p53 expression was stronger in CHM (73.6%) compared with PHM (24.4%, p < 0.0001) and HA (12.8%, p < 0.0001). p21^WAF1/CIP1 staining was observed as well in molar and non-molar gestations (p?>? 0.05). p63 immunoexpression was significantly described in CHM (85.7%) and PHM (78%) compared with HA (10.2%, p < 0.0001 and p = 0.0001, respectively). Ki-67 was significantly expressed in CHM (72.1%) compared with HA (46.2%, p = 0.005).Altered expression of Bcl-2, p53, p63 and Ki-67 reflects the HM pathological development. Immunohistochemical analysis is beneficial to recognize the HM molecular and pathogenic mechanisms. Furthermore, it could serve as a useful adjunct to conventional methods for refining HM diagnosis.     

Prognosis of periprosthetic regurgitation after mitral valve replacement using the Saint Jude prosthesis

Periprosthetic regurgitation (PPR) is a common complication of mitral valve replacement (MVR). The management of moderate and minor PPR remains controversial. The goal of this prospective study was to determine the incidence, predictors and outcome of PPR discovered using omniplan transoesophageal echocardiography (TEE) performed at the early postoperative period (14.7 days) of MVR with SJM prosthesis. Our study enrolled 56 patients, the mean age was 44.5 +/- 11.9 years. The incidence of PPR was 59% (33 patients). TEE showed one jet in nine patients (27%), two jets in 23 patients (70%) and three jets in one patient (3%). PPR is minor in 24 patients (63%) and moderate in nine patients (27%). No patient developed hemolytic anemia or congestive heart failure. In univariate analysis, diameter of prostheses > 27 mm, number of suture knots < 17 and diameter of prostheses/number of knot ratio > 1.7 independently predicted the presence of PPR. In multivariate analysis only a rapport diameter of protheses/number of suture knots > 1.7 mm is predictif of PPR (odd ratio = 9, P = 0.036). Ninety percent of PPR remained present at six weeks and only 29% were present after 12.5 months. CONCLUSION: Mild and minor PPR were frequent during the early postoperative period after MVR. The clinical significance and natural history is benign and they do not require any specific treatment.     

Anasarque fœtoplacentaire et hypothyroïdie congénitale

Hydrops fetalis (HF) is characterized by the presence of soft tissue effusions including pleural, pericardial effusions and ascites. The incidence of immune hydrops fetalis has markedly declined after the use of Rh (D) immune globulin prophylaxis and the non-immune HF have become the most common. We report the case of a premature newborn with HF diagnosed at 32 weeks of GA with congenital hypothyroidism. The child has no medical history with Rh positive blood group and negative indirect Coombs test. At birth, the newborn presented generalized oedema and needed mechanical ventilation with chest and ascites paracentesis. The pleural fluid was in favor of a chylothorax. He had no anemia or neurological, renal, cardiac or digestive malformations. Because of skin oedema, persistent pleural effusion and lethargy, laboratory tests of the thyroid function were performed and showed a low serum l-thyronine (T4) level and an elevated thyroid-stimulating hormone (TSH) level thereby confirming the diagnosis of congenital hypothyroidism. This article describes the relation between hypothyroidism and chylothorax, based on a review of literature. Because of the importance of early diagnosis, the tests of the thyroid function must be a part of HF investigation, especially in countries where neonatal screening is not done.     

Novel Central Nervous System Drug Delivery Systems

For decades, biomedical and pharmaceutical researchers have worked to devise new and more effective therapeutics to treat diseases affecting the central nervous system. The blood–brain barrier effectively protects the brain, but poses a profound challenge to drug delivery across this barrier. Many traditional drugs cannot cross the blood–brain barrier in appreciable concentrations, with less than 1% of most drugs reaching the central nervous system, leading to a lack of available treatments for many central nervous system diseases, such as stroke, neurodegenerative disorders, and brain tumors. Due to the ineffective nature of most treatments for central nervous system disorders, the development of novel drug delivery systems is an area of great interest and active research. Multiple novel strategies show promise for effective central nervous system drug delivery, giving potential for more effective and safer therapies in the future. This review outlines several novel drug delivery techniques, including intranasal drug delivery, nanoparticles, drug modifications, convection‐enhanced infusion, and ultrasound‐mediated drug delivery. It also assesses possible clinical applications, limitations, and examples of current clinical and preclinical research for each of these drug delivery approaches. Improved central nervous system drug delivery is extremely important and will allow for improved treatment of central nervous system diseases, causing improved therapies for those who are affected by central nervous system diseases.