Premature ovarian insufficiency in the XO female mouse on the C57BL/6J genetic background.

In humans, all but 1% of monosomy 45.X embryos die in utero and those who reach term suffer from congenital abnormalities and infertility termed Turner's syndrome (TS). By contrast, XO female mice on various genetic backgrounds show much milder physical defects and normal fertility, diminishing their value as an animal model for studying the infertility of TS patients. In this article, we report that XO mice on the C57BL/6J (B6) genetic background showed early oocyte loss, infertility or subfertility and high embryonic lethality, suggesting that the effect of monosomy X in the female germline may be shared between mice and humans. First, we generated XO mice on either a mixed N2(C3H.B6) or B6 genetic background and compared the number of oocytes in neonatal ovaries; N2.XO females retained 45% of the number of oocytes in N2.XX females, whereas B6.XO females retained only 15% of that in B6.XX females. Second, while N2.XO females were as fertile as N2.XX females, both the frequency of delivery and the total number of pups delivered by B6.XO females were significantly lower than those by B6.XX females. Third, after mating with B6 males, both N2.XO and B6.XO females rarely produced XO pups carrying paternal X chromosomes, although a larger percentage of embryos was found to be XO before implantation. Furthermore, B6.XO females delivered 20% XO pups among female progeny after mating with C3H males. We conclude that the impact of monosomy X on female mouse fertility depends on the genetic background.

Study of rs1137101 polymorphism of leptin receptor gene with serum levels of selenium and copper in the patients of non-ST-segment elevation myocardial infarction (NSTEMI) in an Iranian population.

OBJECTIVE: NSTEMI is a type of myocardial infarction (MI) causing partial but progressive occlusion of cardiac coronary vessels. The aim of this study was to investigate rs1137101 polymorphism of soluble leptin receptor (sLEPR) as well as circulatory selenium and copper levels in NSTEMI patients and their usefulness in analyzing susceptibility to NSTEMI. METHODS: We collected sera and whole blood of 80 NSTEMI patients and 80 healthy individuals using cTnI levels plus electrocardiography as the "gold standard". Polymorphism analysis was done after DNA extraction by high-resolution melt PCR, selenium and copper levels by atomic absorption spectrophotometry, and sLEPR by ELISA. RESULTS AND DISCUTION: There was Hardy-Weinberg (HWE) equilibrium for both patient and control loci (χ2 = 0.368434509 and 0.341447368, respectively). The frequencies of A/A, A/G, and G/G genotypes were 18 (22%), 37 (46%), and 25 (31%) for patients, and 30 (38%), 36 (45%), and 14 (18%) for healthy controls, respectively. The frequencies of A and G alleles were 73 (46%) and 87 (54%) for patients and 96 (60%) and 64 (40%) for control groups. There was correlation between allele G and sLEPR level and Body Mass Index (BMI). Selenium levels were lower in patient group than control group (66.307 ±â€¯11.013 against 87.488 ±â€¯11.839 µg/L; p < 0.001) but copper concentrations were higher (1.8105 ±â€¯0.358 against 1.366 ±â€¯0.454 mg/L; p < 0.001). sLEPR levels were also higher in patient than control group (30.568 ±â€¯3.290 against 23.740 ±â€¯5.457 ng/dL; p < .001). Low selenium and high copper concentration had positive diagnostic value for disease. CONCLUSION: We find for the first time that there is a significant association between rs1137101 polymorphism and susceptibility to NSTEMI. There is also statistically meaningful association between decrease in serum selenium and increase in serum copper levels with susceptibility to NSTEMI.

Decreased circulatory microRNA-4478 as a specific biomarker for diagnosing non-ST-segment elevation myocardial infarction (NSTEMI) and its association with soluble leptin receptor.

OBJECTIVE: This study aimed to assess the usefulness of circulatory microRNA-4478 (miR-4478) and soluble leptin receptor (sLEPR) in prognosis and diagnosis of non-ST-segment elevation myocardial infarction (NSTEMI) and to introduce miR-4478 as a new biomarker for NSTEMI disease. This study aimed also to examine correlation between miR-4478 and soluble leptin receptor and effects of miR-4478 on leptin receptor concentration. BACKGROUND: MicroRNAs could be used as predictive biomarkers for diseases. METHODS: We collected sera of 80 angiographically confirmed NSTEMI patients and 80 healthy individuals and performed RNA extraction, cDNA synthesis, measurement of microRNAs, sLEPR and other chemistries. Statistical analyses were done using excel, XLSAT, and SPSS. Quality control analysis was done triplicated for 7 serial dilution of stock cDNA solution. RESULTS: The patients with NSTEMI had higher serum levels of miR-4478, sLEPR, cTnI, CKMB, Urea, creatinine, glucose, cholesterol, TG, and ALP but lower levels of ALT compared with the normal healthy individuals. We detected decrease in expression of miR-4478 (2^-∆∆Cq = 0.161 ± 0.211) along with increase in sLEPR levels (F = 3.645, p < 0.001) in the NSTEMI group compared with normal individuals. Pearson's correlation tests indicated positive correlation of miR-4478 and sLEPR (p < 0.001, R² = 0.698). There was sensitivity and specificity of 87.5% and 98.8% for miR-4478 and 92.5% and 87.5% for sLEPR. CONCLUSION: Circulatory miR-4478 and sLEPR may be used as predictors of NSTEMI. miR-4478 may also be used as a new biomarker for NSTEMI disease (Tab. 3, Fig. 6, Ref. 30).

Deletion of 12/15-lipoxygenase accelerates the development of aging-associated and instability-induced osteoarthritis.

OBJECTIVE: 12/15-Lipoxygenase (12/15-LOX) catalyzes the generation of various anti-inflammatory lipid mediators, and has been implicated in several inflammatory and degenerative diseases. However, there is currently no evidence that 12/15-LOX has a role in osteoarthritis (OA). The aim of this study was to investigate the role of 12/15-LOX in the pathogenesis of OA. METHODS: The development of aging-associated and destabilization of the medial meniscus (DMM)-induced OA were compared in 12/15-LOX-deficient (12/15-LOX-/-) and wild-type (WT) mice. The extent of cartilage damage was evaluated by histology. The expression of OA markers was evaluated by immunohistochemistry and RT-PCR. Cartilage explants were stimulated with IL-1α in the absence or presence of the 12/15-LOX metabolites, 15-hydroxyeicosatetraenoic acids (15-HETE), 13-hydroxyoctadecadienoic acid (13-HODE) or lipoxin A4 (LXA4), and the levels of matrix metalloproteinases-13 (MMP-13), Nitric oxide (NO) and prostaglandin E2 (PGE2) were determined. The effect of LXA4 on the progression of OA was evaluated in wild type (WT) mice. RESULTS: The expression of 12/15-LOX in cartilage increased during the progression of DMM-induced OA and with aging in WT mice. Cartilage degeneration was more severe in 12/15-LOX-/- mice compared to WT mice in both models of OA, and this was associated with increased expression of MMP-13, a disintegrin and metalloproteinase with thrombospondin motifs, aggrecanases (ADAMTS5), inducible NO synthases (iNOS), and mPGES-1. Treatment of cartilage explants with 12/15-LOX metabolites, suppressed IL-1α-induced production of MMP-13, NO and PGE2, with LXA4 being the most potent. Intra-peritoneal injection of LXA4 reduced the severity of DMM-induced cartilage degradation. CONCLUSIONS: These data suggest an important role of 12/15-LOX in the pathogenesis of OA. They also suggest that activation of this pathway may provide a novel strategy for prevention and treatment of OA.

Prevalence of glaucoma in patients with moderate to severe obstructive sleep apnea: ocular morbidity and outcomes in a 3 year follow-up study.

PURPOSE: This study was conducted to investigate the prevalence and progression of glaucoma in patients receiving treatment for obstructive sleep apnea (OSA). We also investigated whether there is an association between severity of OSA and the incidence of glaucoma. METHODS: A total of 39 patients aged >30 years who had been diagnosed with moderate and severe OSA in the sleep clinic at Hamad General Hospital were assessed for the presence of glaucoma. The severity of OSA was graded as mild, moderate, or severe based on American Association of Sleep Medicine (AASM) criteria using the apnea hypopnea index. Before enrollment, all patients underwent a complete ophthalmic examination including serial visual field tests, optical coherence tomography (OCT) with fundus photographs, and pachymetry. Enrolled patients were followed up in the ophthalmology outpatient clinic and sleep clinic for a period of 3 years. RESULTS: Examinations found that 8 (20.5%; 95% confidence interval (CI) 9.9-37%) of the 39 patients with OSA had glaucoma. Six (75%; 95% CI 36-96%) of these patients had normal-tension glaucoma (NTG) and two (25%; 95% CI 4.5-64.4%) patients had high-tension glaucoma. Among the 27 patients with severe OSA, 7 (25.9%; 95% CI 8-34%) had glaucoma, and among 12 patients with moderate OSA, 1 (8.3%; 95% CI 0.1-15%) had glaucoma. During the course of follow-up, two patients who previously did not have glaucoma were reclassified as NTG and two patients with glaucoma deteriorated. A higher prevalence of glaucoma in the severe OSA group compared with the moderate OSA group was found, albeit a statistically significant difference could not be attained (P=0.4). CONCLUSIONS: Our study showed that severe OSA is an important risk factor for developing glaucoma. Adequate treatment of OSA, along with optimal ophthalmic care, resulted in better control of glaucoma.

[Specific tongue involvement revealing sarcoidosis]. / Atteinte linguale spécifique révélatrice d'une sarcoïdose.

BACKGROUND: Sarcoidosis is a multisystem granulomatous disease of unknown aetiology. Tongue involvement is extremely rare. Herein we report a new case. PATIENTS AND METHODS: A 65-year-old woman presented with a 6-month history of painless multiple nodules on the tongue. The patient also complained of xerostomia. Besides nodules on the tongue, physical examination revealed erythematous nodules on the dorsum of the hands and feet. A diagnosis of sarcoidosis with tongue, cutaneous and salivary gland involvement was made on the basis of these findings and further investigations performed. The patient's condition showed improvement with partial regression of tongue lesions after oral steroid therapy. DISCUSSION: Tongue involvement in sarcoidosis is exceedingly rare. It may be isolated or part of a generalized multisystem sarcoidosis. Nodules, indurations and swelling are the most common clinical manifestations. Management of tongue sarcoidosis is not consensual. Oral corticosteroids appear to be the most effective therapy. CONCLUSION: Sarcoidosis of the tongue should be considered when chronic unexplained nodules are noted. Diagnosis can easily be confirmed by a histological examination of mucosal biopsy.

Seven Years Trends in Prevalence of Transfusion-Transmissible Viral Infections in Yazd blood Transfusion Organization.

BACKGROUND: Increasing blood supply safety is one of the most important goals of blood services in the world. In this study, we reviewed the prevalence rate and the trends of three main infections in whole blood donations and strategies for improving blood safety in Yazd blood transfusion center, Iran. MATERIALS AND METHODS: In this cross sectional study, data on hepatitis B, C and HIV infection were extracted from Iranian Donor Database of blood donation from 2004 to 2010 in Yazd province. All donors with positive confirmatory test were included. The data was analyzed by SPSS software due to demographic factors. RESULTS: The prevalence rate of hepatitis B, C and HIV infection decreased during these years (From 0.37%, 0.14% and 0 percent in 2004 to 0.14%, 0.05% and 0 in 2010, respectively). Both hepatitis B and C infections were significantly more in first-time blood donors with BSc or BA educational level. The prevalence rate of hepatitis B was significantly higher in donors with less than 20 year-old and female donors. The prevalence rate of hepatitis C was higherin30-39 age group (P-value= 0.014). CONCLUSION: The results showed that the strategies used for improving blood safety were efficient. Increasing public knowledge on blood-borne infections and their routes of transmission, importance of donating blood only by healthy donors are necessary to have a safe blood supply in future.

Efficacy of influenza vaccination in patients with cirrhosis and inactive carriers of hepatitis B virus infection.

BACKGROUND: Influenza can causes morbidity and mortality that are greatly enhanced in patients with underlying chronic diseases such as Cirrhotic patients. This study was performed to assess the immunogenicity of Influenza vaccination in patients with cirrhosis and inactive carriers of Hepatitis B virus infection. METHODS: In this clinical study 93 enrolled subjects divided into 3 groups: Cirrhotic (N=28), Inactive carriers of Hepatitis B (N=31) and subjects (N=34). All the participants were vaccinated by Influenza vaccine (Influvac®). Serum samples were taken before and 4 weeks after vaccination and the Humoral Immunogenicity was assessed by the Hemagglutination Inhibition (HI) test. RESULTS: Four weeks after vaccination, seroconversion rates of vaccine strains ranged between 71.4% and 100% in Group 1, 70.6% and 94.1% in Group 2, and 58.1% and 80.7% in Group 3. No significant differences were seen in the rates of Seroconversion and antibody Geometric Mean Titers (GMTs) against Influenza A (H1N1 and H3N2) vaccine components in the three groups (P>0.05).The rates of Seroconversion and antibody GMTs against Influenza B vaccine component were significantly higher in Cirrhotic and inactive carriers of Hepatitis B than healthy subjects (P<0.005). No significant (P>0.05) differences in the rates of Seroprotection were observed within the three groups. Antibody GMTs against all three strains of Influenza vaccine increased significantly (P<0.001) after vaccination in three groups. CONCLUSION: Influenza vaccination is effective in Cirrhotic patients and inactive carriers of Hepatitis B as well as healthy individuals. It means that vaccination should be considered in such patients in order to reduce the morbidity and mortality of Influenza.

[Duodenal angiodysplasia: an unusual cause of intestinal obstruction]. / Angiodysplasie duodénale: cause inhabituelle d'occlusion intestinale.

Angiodysplasia is a relatively rare lesion that however may be a major source of upper and lower gastrointestinal bleeding. It's mostly related to the aging and degeneration of the blood vessels, as it occurs in older adults. Clinical presentation is variable, ranging from asymptomatic cases over iron deficiency anaemia to acute or recurrent bleeding. We present a case of 60 year-old woman presented with anaemia and intestinal obstruction. Diagnosis can usually be made using endoscopy, sometimes with additional biopsy. Treatment can be symptomatic, including iron supplements and transfusion therapy or causal, including therapeutic endoscopy (laser, electrocautery, heater probe or injection sclerotherapy), therapeutic angiography and surgery.

[Nevus comedonicus syndrome]. / Syndrome de l'hamartome comédonien.

BACKGROUND: Nevus comedonicus is a rare disease and diagnosis is made chiefly on clinical grounds. It may occur in isolation, or in rare cases, it may be combined with other congenital malformations to constitute nevus comedonicus syndrome. We report a case of this disease herein. PATIENTS AND METHODS: A young woman aged 20 years presented with cribriform plaques since birth resulting from the juxtaposition of depressed pigmented scars and comedonic lesions. These lesions were found on the entire face, the left hemithorax and the left upper limb, with well delineated distribution stopping at the median line. The patient's history revealed congenital cataract of the left eye operated at the age of 10 years. Clinical diagnosis of nevus comedonicus was confirmed by histological examination of the skin. Laboratory screening for other associated malformations revealed no abnormalities. Oral retinoids were proposed but the patient refused all treatments. DISCUSSION: Nevus comedonicus is one of the rarest forms of cutaneous nevus. This case is original as regards the extent and topography of the nevus covering the left side of the patient's body and its association with congenital cataract potentially indicating nevus comedonicus syndrome. This syndrome is extremely rare and belongs to a large group of epidermal nevus syndromes characterised by association of nevus and extracutaneous malformations, particularly ocular, skeletal and neurological.

[Tumoral calcinosis]. / Calcinose tumorale d'Inclan.

BACKGROUND: Tumoral calcinosis is a rare disease seen in adolescents and young adults and consisting of calcifications in periarticular soft tissue. Mutations in fibroblast growth factor 23 and GalNAc transferase 3 have been identified in the familiar forms of tumoral calcinosis. PATIENT: A 10 year-old boy of light phototype presented multiple calcified periarticular masses since the age of seven years as well as sciatica secondary to nerve compression. Laboratory examinations revealed hyperphosphoraemia. Serum calcium levels, kidney tests, parathormone assay and muscle enzymes were all normal. Histology of a cutaneous biopsy sample revealed dermal calcifications. Inclan's tumoral calcinosis was diagnosed. Surgical resection was performed and drug treatment comprising phosphate chelators (aluminium hydroxide) was administered. At five months, other sites were apparent. DISCUSSION: This case of tumoral calcinosis is notable in terms of its sporadic onset in a child of light phototype and by the presence of compression of the external sciatic nerve. The diagnosis was made after ruling out other causes of soft tissue calcification.

[Pyoderma gangrenosum revealing Takayasu's arteritis]. / Pyoderma gangrenosum révélant une artérite de Takayasu.

BACKGROUND: Pyoderma gangrenosum is a form of neutrophilic dermatosis often associated with inflammatory disease or blood dyscrasias. We report a case of pyoderma gangrenosum revealing Takayasu's arteritis. OBSERVATION: A 26 year-old woman was followed since 2002 for pyoderma gangrenosum occurring during pregnancy and regressing under general corticosteroids. In January 2004, immediately after childbirth, she presented an extensive ulcerated lesion on the right forearm. Histological examination of a biopsy sample from this solution pointed towards pyoderma gangrenosum. Somatic examination showed reduced peripheral pulse on the right side, asymmetric blood pressure between the two arms and vascular murmur in the carotid, femoral and renal arteries. Based on laboratory and x-ray examinations, Takayasu's arteritis was diagnosed and chronic viral hepatitis B detected. Resumption of treatment with prednisone (1 mg/kg/d) resulted in resolution of the wounds within 1 month. DISCUSSION: Although pyoderma gangrenosum is a classic complication in Takayasu's arteritis in Japan, this combination is rare in Europe, North America and North Africa. This case was singular in terms of the occurrence of pyoderma gangrenosum with each pregnancy. However, a number of epidemiological and clinical features were consistent with those reported in the literature, namely presentation predominantly in female patients, young age and involvement of the limbs. In 60% of cases, pyoderma gangrenosum precedes Takayasu's arteritis. The recommended mode of treatment comprises oral corticosteroids as first-line therapy followed by cyclosporine as second-line treatment.

[Biphasic sarcomatoid carcinoma of the thyroid: an exceptional localization of a rare tumor]. / Carcinome sarcomatoïde biphasique de la thyroïde: localisation exceptionnelle d'une tumeur rare.

Thyroid sarcomatoid carcinoma is a rare and aggressive neoplasm composed of a follicular carcinoma which is contiguous or admixed with a pleomorphic spindle cell component. We report the case of a thyroid tumor reputed to have a poor outcome, in a 62-year-old woman. The radical thyroidectomy specimen was totally invaded. Results of immunoperoxidase staining for thyroglobulin and epithelial markers were positive in the areas of follicular carcinoma and negative in the sarcomatous component. The patient died a few days later due to septic shock. The epithelial and mesenchymal components of thyroid carcinosarcoma were both part of the neoplastic parenchyma and evolved from a single common stem cell, in agreement with the hypothesis that the tumors are of monoclonal origin. The definition of this tumor as its histogenesis and prognostic are discussed.

[Intimal sarcoma of the inferior vena cava]. / Sarcome intimal de la veine cave inférieure.

INTRODUCTION: Primary sarcomas of the great vessels, that is, the aorta, pulmonary artery, and inferior vena cava, are rare. They can be classified according to the location of the sarcoma in the vessel wall and by their gross appearance. Most often they are leiomyosarcomas or fibrosarcomas. CASE: We report here a case of an intimal sarcoma of the inferior vena cava. Histological and immunohistochemical findings confirmed the diagnosis for this 17-year-old girl and distinguished it from leiomyosarcoma and angiosarcoma, both of which have better prognoses. DISCUSSION: Intimal sarcoma of the inferior vena cava is rare and difficult to diagnose before surgery or biopsy. Histologically, it is a poorly differentiated tumor with the worst prognosis among the primary vascular sarcomas. Pathologic findings and immunohistochemical staining are useful for a positive diagnosis.

[Hepatic alveolar hydatidosis in Morocco]. / Hydatidose alvéolaire hépatique au Maroc.

This report describes a case of hepatic alveolar echinococcosis. To our knowledge it is the first documented report of human alveolar echinococcosis in Morocco. Alveolar echinococcosis of the liver is a relatively rare, severe chronic parasitic disease. It is characterized by slow-growing cysts that progressively invade and destroy the liver parenchyma like liver cancer. The discussion presents an update of the clinical, histologic, and therapeutic features of alveolar echinococcosis based on the findings in this case report and a review of the literature.