THE 3rd W522X MUTATION IN EIF2AK3 GENE FROM TURKEY: A NEW PATIENT WITH WOLCOTT-RALLISON SYNDROME.

Wolcott-Rallison Syndrome (WRS), also known as Multiple Epiphyseal Dysplasia with Early-onset Diabetes Mellitus is a rare autosomal recessive multisystemic disorder. Its characteristic clinical features are permanent neonatal or early infancy insulin-dependent diabetes and later onset skeletal dysplasia. Other frequent clinical manifestations are hepatic and renal dysfunction, mental retardation, cardiac abnormalities, exocrine pancreatic dysfunction, primary hypothyroidism and neutropenia. This report presents an 8-year-old WRS case who is found to have W522X mutation in EIF2AK3 gene which was only found in two other unrelated Turkish families. W522X mutation in EIF2AK3 gene seems to be confined to Turkey and may be a common mutation in WRS patients from this country. In this paper, we evaluate the clinical features of the patients having W522X mutation and we compare this group with other patients reported to date. Except the characteristic features as diabetes mellitus and epiphyseal dysplasia, all the WRS patients, including patients with W522X mutation, show extensive phenotypic variability that correlates poorly to genotype which suggests that there is no correlation between a specific mutation and the clinical manifestation.

Depression, Anxiety, and Stress Symptoms in Menopausal Arab Women: Shedding More Light on a Complex Relationship.

BACKGROUND: The association between depression, anxiety, and stress among Arab menopause and postmenopausal women have been explored in detailed. AIM: The objective of this study was to determine the correlation between depression, anxiety, and stress in menopausal and postmenopausal women and shedding more light on a complex relationship. SUBJECTS AND METHODS: A cross-sectional descriptive study was used to generate menopause symptoms experienced by Arabian women at the primary health care centers in Qatar. A representative sample of 1468 women aged 45-65 years were approached during July 2012 and May 2014 and 1101 women agreed to participate (75.0%) and responded to the study. Depression, anxiety, and stress were measured using the Depression Anxiety Stress Scales 21. Data on body mass index (BMI), clinical and other parameters were used. Univariate, multivariate, and matrix correlation analysis were performed for statistical analysis. RESULTS: A total of 1101 women agreed to participate after informed consent was obtained. The mean age and standard deviation (SD) of the menopausal age were 49.55 (3.12), the mean and SD of postmenopausal age was 58.08 (3.26) (P < 0.001). There were statistically significant differences between menopausal stages with regards to age, ethnicity, educational status, occupation status, and place of living. Furthermore, there were statistically significant differences between menopausal stages with regards to BMI, systolic and diastolic blood pressure (BP), Vitamin D deficiency, and diseases. Depression and anxiety were more common among postmenopause women. Furthermore, there were no differences between the groups regarding the frequency of certain levels of stress among menopause and postmenopause. The multivariate regression analyses revealed that age in years, diastolic BP, consanguinity, regular exercise were a predictor for depression. Meanwhile, diastolic BP, occupation, and physical activity considered the main risk factors for anxiety. Furthermore, age in years, occupation, and sheesha smoking habits were considered as the main risk factors associated with stress. CONCLUSION: A large number of factors were associated with experiencing menopausal and psycho-social problems and which had negative effects on the quality of life among Arabian women. Depression, anxiety, and stress should be considered as important risk factors for osteoporosis.

[Epidemiological profile of salivary-glands tumors in a Tunisian teaching hospital]. / Profil épidémiologique des tumeurs des glandes salivaires dans un CHU tunisien.

INTRODUCTION: Salivary-glands tumors come in various presentations and the epidemiological data are variable. The aim of this retrospective study was to establish an epidemiological profile of salivary-glands tumors in a Tunisian teaching hospital and to compare it to published data. PATIENTS AND METHODS: The study was made on 76 men and 80 women with a mean age of 43 years (five months to 85 years). Sixty percent of the tumors were parotid lesions, 16% were submandibular and 24% located on minor salivary glands. Eighty-four percent of parotid tumors were benign. Malignant-parotid tumors often affected men over 60 years of age. Most minor salivary-glands tumors were located on the palate. DISCUSSION: Benign salivary-glands tumors, often have a parotid localization affect, more women in the Tunisian population. Contrary to the literature, in our series, malignant tumors were predominant in women.

Keyhole approach for posterior cervical discectomy: experience on 84 patients.

Anterior cervical discectomy with or without fusion has been commonly used for cervical disc disease since the description by Smith and Robinson in 1958. In this report, surgical technique, advantages, and disadvantages of the posterior approach, known as the posterior keyhole laminotomy-foraminotomy, are reviewed and motion versus fusion surgery discussed. Between 1996 and 2004, the keyhole laminotomy-foraminotomy was performed on 84 patients suffering from lateral cervical soft disc herniation or osteophytes. All the procedures were performed under the surgical microscope. A high-speed drill was used for drilling the bone. In 49 patients (58%), soft disc herniation was removed, while in 35 patients (42%) there were osteophytes. Successful relief of radiculopathy symptoms was achieved in 80 patients (96%). In 4 patients the symptoms recurred. One patient (1.2%) developed kyphosis. The only complication observed intraoperatively was a partial root injury in one patient (1.2%). Mean hospitalization time was 48 hours. The posterior approach is particularly appropriate in patients whose root compression is located posterolaterally. Advantages of this surgery are minimal lamina resection, good visualization of the nerve root, postoperative early mobilization and minimal hospitalization. Microsurgery enables us to both preserve the motion of operated segment and avoid cervical instability.

[Synovial cyst of the temporomandibular joint]. / Le kyste synovial de l'articulation temporomandibulaire.

OBSERVATION: A 30-year-old patient presented with a left painful pre-auricular tumefaction for one year. CT-scan suggested the diagnosis of temporomandibular synovial cyst or first branchial cleft cyst. This was confirmed by surgery. DISCUSSION: Temporomandibular synovial cysts are rare, the etiology is not documented. Revealing symptoms are those mentioned above. The common treatment is surgery.

[Pterygoïdien hydatid cyst]. / L'hydatidose ptérygoïdienne.

INTRODUCTION: The cervico-facial hydatid cyst is rare. It accounts for 1% echinococcisis locations and usually involves the salivary gland and the thyroid. Pterygoid muscle involvement is exceptional. CASE REPORT: We report the case of a patient presenting a hydatid cyst of the pterygoid muscle. The patient presented a non specific progressive tumor syndrome. DISCUSSION: This case illustrates the importance of CT scans. Surgery is always required. We emphasize the risk of complications when the diagnosis is missed.

2D-NMR strategy dedicated to the analysis of weakly ordered, fully deuterated enantiomers in chiral liquid crystals.

Methods for the assignment of the quadrupolar doublets in the deuterium NMR spectra of weakly ordered, perdeuterated or partially deuterated enantiomers dissolved in chiral liquid crystals are described which use robust 2D correlation NMR experiments. To overcome a lack of resolution in deuterium tilted Q-COSY 2D spectra in such materials, we propose and explore a correlation 2D sequence which is based on deuterium-carbon 2D correlation spectroscopy. The technique results in a (13)C-(2)H contour plot and allows the full resonance assignment of overcrowded deuterium 1D spectra using carbon-deuterium correlations. The (2)H autocorrelation and (13)C-(2)H correlation experiments are applied in the case of a racemic mixture of 2-ethylhexanoic acid-d(15) dissolved in a polypeptidic chiral oriented solvent. The performance and the limits of both techniques are presented and discussed. For the last step of the assignment procedure, we propose a simple method for obtaining two coherent sets of quadrupolar splittings, one for each enantiomer.

[Mandibular odontogenic carcinosarcoma: a case report]. / Carcinosarcome odontogène mandibulaire.

The last W.H.O classification of odontogenic tumors (1992) individualized a new entity called odontogenic carcinosarcoma. We report a case in which we encountered some difficulties to establish the diagnosis. The patient J.Z., a 26 year-old woman was operated on for a left mandibular tumor corresponding, histologically, to an ameloblastic fibrosarcoma. One year later, we noted a submandibular swelling considered as a local recurrence. After resection, the pathologic examination diagnosed a lymph node metastasis from the same tumor. We decided to observe the patient. Three years post operatively, metastatic lymph nodes appeared, involving a double-component tumor: ameloblastic fibrosarcoma and malignant ameloblastoma. These features allowed the diagnosis of odontogenic carcinosarcoma. We insist on difficulties of the diagnosis and the necessity of radical resection of the tumor with neck dissection.

[Mucoepidermoid carcinoma appearing synchronously in the lacrimal and salivary glands]. / Carcinome muco-épidermoïde à double localisation lacrymo-salivaire.

An 86-year-old woman consulted for a swelling on the palpebral side of the upper eyelid that she had discovered 4 months earlier. Physical examination also revealed a parotid nodule on the same side. Clinical and radiological findings were in favor of a malignant lacrimal tumor. The parotid localization would correspond to either a lymph node metastasis or an intraparotid metastasis or to a primary parotid tumor with salivary metastasis; We discuss these hypotheses in light of the epidemiology, history and clinical and pathology findings.

Renal disease in the inner city.

For various ethnic and socioeconomic reasons the pattern of renal disease in the inner city displays distinctive features. Hypertension is frequent, often intractable, and generally conditioned by salt sensitivity and a high sodium intake. Chronic hypertensive nephrosclerosis, found predominantly in African Americans, comprises marked cardiomegaly, renal shrinkage, and hypertensive retinopathy. It has been overdiagnosed in the past, but actually accounts for less than 20% of end-stage renal disease (ESRD) in African Americans. Malignant hypertension, less frequent nowadays, may cause renal shutdown, which is reversible in a few cases; the heart and kidneys are often of normal size. Idiopathic focal segmental glomerulosclerosis is the most common cause of the primary nephrotic syndrome in blacks, but its incidence has also been rising in whites and Hispanics; it does not respond well to treatment, and almost one half of the patients develop ESRD within 10 years. Systemic lupus erythematosus is also more common in African Americans, in whom the severe proliferative forms of lupus nephritis pursue a more virulent course: one half of such patients develop ESRD in 5 years. Cocaine, the use of which has assumed epidemic proportions, may cause accelerated hypertension, acute renal failure from rhabdomyolysis, and progression of preexisting renal disease. Heroin nephropathy has all but disappeared and has been replaced by human immunodeficiency virus (HIV) nephropathy. The prognosis of HIV-infected patients maintained by dialysis has greatly improved. Sickle glomerulopathy, consisting of mesangial expansion, basement membrane duplication, and the absence of immune deposits, may cause the nephrotic syndrome in 4% of patients with severe sickle cell anemia, heralding death within 2 years in one half of patients and ESRD in two thirds; survival has not improved with dialysis. Diabetes is now the most common cause of ESRD. Familial aggregation of ESRD is frequently encountered. Interventions useful in the general population, such as vascular bypass procedures, should be undertaken with great caution and restraint in dialysis patients.

A simple method to detect an albumin permeability factor in the idiopathic nephrotic syndrome.

BACKGROUND: Several investigators have detected an albumin permeability factor in the serum of patients with the idiopathic nephrotic syndrome (INS), that is, minimal change disease (MCD) or focal segmental glomerulosclerosis (FSGS), but the methods used have been complex. METHODS: We describe here a simpler method using cultured rat glomerular epithelial cell monolayers grown to confluence on Millicell filters, which allow sampling of apical and basolateral media. 125I-labeled human serum albumin (125I-HSA) was added to the basolateral compartment, and its leakage across the epithelial cell monolayer into the apical compartment was measured. RESULTS: In untreated cells (negative control), the albumin leakage reached 5.3% at 18 hours. Cell monolayers fixed with 95% ethanol (positive control) showed 62% leakage. Sera from three out of four patients with MCD and three out of four with FSGS resulted in considerable albumin leakage, whereas sera from nine patients with other types of nephrotic renal disease and five normal subjects caused no leakage. CONCLUSION: This study shows that the Millicell system provides a simple and useful method to screen for permeability factors in the INS.

[Giant cell lesions of the maxilla disclosing primary hyperparathyroidism]. / Lésions à cellules géantes des maxillaires révélatrices d'hyperparathyroïdie primaire.

We report 2 cases of giant-cell lesions of the maxilla in two female patients aged 42 and 22 years. The initial diagnosis was giant-cell tumor and giant-cell repair granuloma. The diagnosis of brown tumor was established at discovery of primary hyperparathyroidism. We emphasize the importance of searching for hyperparathyroidism in patients with a giant-cell lesion of the maxilla.

Application of syringosubarachnoid shunt through key-hole laminectomy. Technical note.

The authors describe the key-hole laminectomy technique (KHLT) for application of syringosubarachnoid shunts. This technique was used in 29 patients with noncommunicating syringomyelia. In all cases the shunts were inserted successfully without any peri- or late postoperative complications. The late follow-up magnetic resonance examinations revealed the clear collapse of syrinx in all cases. The authors advocate use of the KHLT because it is associated with less surgery-related trauma, epidural fibrosis, infection, and spinal instability.

[Neurosarcoma of the submandibular gland arising in a pleomorphic adenoma. Apropos of a case]. / Neurosarcome de la glande submandibulaire développé sur un adénome pléomorphe. A propos d'un cas.

A 71-year-old woman consulted for a tumor of the right submandibular gland that had been present for 4 years and had rapidly increased in size during the last two months. Histological examination of frozen sections and immunohistochemistry concluded to a poor differentiated sarcoma probably a neurosarcoma with residual pleomorphic adenoma component. In spite of wide resection, local recurrences with nodes and lung metastases occurred leading to the death of the patient. We think interesting to report this unusual salivary tumor and to discuss its pathological features.

Dialysis-associated renal cystic disease resembling autosomal dominant polycystic kidney disease: a report of two cases.

Acquired renal cystic disease is common in patients receiving dialysis. Characteristically, the kidneys are small or, less often, normal in size, and the cysts are usually less than 0.6 cm in diameter. We present here 2 patients who, after 5 and 7 years on hemodialysis, developed marked renal enlargement, with large cysts in the kidneys and, in 1 patient, in the liver as well; the appearance on ultrasonography and computed tomography was indistinguishable from autosomal dominant polycystic kidney disease. Before starting dialysis the first patient was a 19-year-old man who developed renal shutdown from crescentic glomerulonephritis, and the second patient was a 33-year-old man who developed end-stage renal failure from malignant hypertension. Neither patient had renal cysts at the onset of end-stage renal failure.

Life-threatening hematuria from an arteriovenous fistula complicating an open renal biopsy.

Arteriovenous fistulae and pseudoaneurysms are not rare after renal biopsy. The majority of these lesions (80%) are asymptomatic or show only transient symptoms. We present here a patient who developed life-threatening hematuria following an open renal biopsy. Arteriovenous fistula and pseudoaneurysm were detected in the biopsied kidney by color-coded Doppler sonography, confirmed by angiography, and the fistula was sealed by superselective arterial embolization with metallic coils. Color-coded Doppler sonography successfully detects the majority of arteriovenous fistulae after renal biopsy, and selective arterial embolization obviates the need for surgical intervention in most cases.

Establishment and characterization of a human glioblastoma multiforme cell line.

Cell lines provide a useful system for further understanding the biology of glioblastoma multiforme. In this study, a new glioblastoma multiforme cell line, GATAGM-96 (Gulhane Askeri Tip Akademisi-Gliblastoma Multiforme-96), was established from a tumor specimen removed from an 80-year-old male patient who underwent surgery for intracranial tumor. Morphologic examination, immunocytochemical staining, growth kinetics, and karyotypic characteristics of this cell line were studied. The cytoskeleton was positive for neuron-specific enolase, vimentin, and neurofilament, and it was negative for glial fibrillary acidic protein, S-100 protein, p53 protein, epidermal growth factor, and transforming growth factor alpha. Growth kinetic studies demonstrated an approximate population doubling time of 38 to 42 h and a colony forming efficiency of 83.3%. The karyotype of the cells demonstrated it as hyperdiploid, with a large subpopulation of polyploid cells. There were numerous structural and numerical chromosome aberrations; most of them were present as clonal events. The phenotypic and chromosomal features detailed on the GATAGM-96 cell line should make it a useful addition to the cell lines currently available for in vitro and in vivo studies of glioblastoma multiforme.

[Post-traumatic adenoid cystic carcinoma of the lacrimal gland]. / Carcinome adénoïde kystique post-traumatique de la glande lacrymale.

A young 17-year-old man was injured on the external orbital canthus and developed a tumefaction which remained stable. After 2 years the tumefaction with exophthalmia and visual troubles. Radiological investigations suggested two diagnosis: Organized hematoma or a lacrimal gland tumor. Surgical exploration found an apparently benign tumor but histologically it was a cystic adenoid carcinoma.

Mesangial lupus nephritis with associated nephrotic syndrome.

Patients with mesangial proliferative lupus glomerulonephritis (World Health Organization class II) are generally believed to have only mild to moderate proteinuria and normal renal function. However, there have been several reports of patients with mesangial lupus with nephrotic-range proteinuria. In this report, we present two additional cases and review the literature. Of seven reported cases, persistent nephrotic syndrome was observed in four, morphologic transformation occurred in three, and all but one presented with varying degrees of azotemia. These cases reinforce the concept that in systemic lupus erythematosus, laboratory findings may not correlate well with the underlying glomerular lesion, and therefore, the renal biopsy is an essential clinical tool in the approach to lupus nephritis.