Atypical Cogan syndrome: a case report.

Background: Cogan syndrome is a rare autoimmune systemic vasculitis presenting with interstitial keratitis and audiovestibular symptoms. The atypical form, characterized by more extensive ocular lesions with audiovestibular symptoms appearing with a longer delay and more frequent systemic features, is usually underdiagnosed, delaying treatment.

Case Presentation: We report the case of a 30-year-old Mediterranean female who presented recurrent left red and painful eye.

A case report of labyrinthine infarction: a 'central' cause of vertigo with 'peripheral' presentation.

Introduction And Importance: The inner ear is considered an 'end organ' since its vascular supply comes from one terminal artery, making the labyrinth especially vulnerable to ischemia, causing loss of auditory and vestibular function with variable clinical patterns according to the different arterial distribution in the inner ear and which vascular branches are concerned by the embolism.

Case Presentation: We report a misleading case of central vascular vertigo caused by a labyrinthine infarction resulting from an embolic vertebral artery, which manifested in a typical peripheral clinical presentation mimicking a vestibular neuritis.

Clinical Discussion: Vertigo is the result of asymmetrical responses from the vestibules of both ears resulting from any disruption along the complex vestibular pathways, whether peripheral or central.

Intra-Parotid Recurrent Nasopharyngeal Carcinoma Following Intensity-Modulated Radiation Therapy: A Case Report.

Introduction: Intra-parotid metastasis refers to the spread of cancerous cells from a primary tumor to the lymph nodes within the parotid gland. To our best knowledge, we report the first described case in the literature of a patient who received IMRT for nasopharyngeal carcinoma (UCNT) without sparing the parotid gland and still experienced a recurrence.

Case Presentation: A 57-year-old male patient of north African origin presented with a left parotid mass that had been evolving for 6 months.

The Role of Surgery in the Treatment of Cervical Lymph Node Tuberculosis.

Cervical lymph node tuberculosis is a public health problem in Morocco and the rest of the world. Its paucibacillary nature makes diagnosis and treatment difficult. This is a descriptive-analytical retrospective study presenting 104 cases of patients with manifestations of cervical lymph node tuberculosis confirmed by pathological examination (100%), associated in some cases with positive bacteriology (40.

Melatonin is useful alternative for sedation in children undergoing auditory brainstem responses testing.

Auditory brainstem responses testing (ABRs) is frequently required to assess auditory function in children. It is done usually in outpatient fashion and requires deep sleep to avoid artefacts. Sedation method used for the test should allow a deep sleep while avoiding general anaesthesia that requires special monitoring, dedicated staff and operating room availability.

Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness.

Mutations in the mesenchymal epithelial transition factor (MET) gene are frequently associated with multiple human cancers but can also lead to human non-syndromic autosomal recessive deafness (DFNB97). In the present study, we identified a novel homozygous missense mutation in the METgene causing a non-syndromic hearing impairment DFNB97 form. Whole-exome sequencing was performed to determine the genetic causes of hearing loss in a Moroccan consanguineous family with an affected daughter.

Contribution of BRCA1 5382insC mutation in triple negative breast cancer in Tunisia.

Background: Triple negative breast cancer (TNBC) has been classified as a disease subgroup defined by the lack of expression of estrogen and progesterone receptors as well as the absence of the human epidermal growth factor receptor-2 (HER2) overexpression. Germline mutations in the BRCA1 gene have been associated with TNBC. Approximately 70% of breast cancers arising in BRCA1 mutation carriers and up to 23% of breast cancers in BRCA2 carriers display a triple negative phenotype.

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

Objectives: Autosomal recessive non-syndromic hearing loss is a heterogeneous disorder and the most prevalent human genetic sensorineural defect. In this study, we investigated the geneticcause of sensorineural hearing loss in Moroccan patients and presented the importance of whole exome sequencing (WES) to identify candidate genes in two Moroccan families with profound deafness.

Methods: After excluding mutations previously reported in Moroccan deaf patients, whole exome sequencing was performed and Sanger sequencing was used to validate mutations in these genes.

Simultaneous detection of glutathione and lactate using spectral editing at 3 T.

Two spectral editing techniques for the simultaneous detection of glutathione (GSH) and lactate (Lac) in the human brain at 3 T are described and evaluated. These methods, 'sMEGA' (sinc-MEscher and GArwood) and 'DEW' (Double Editing With), were optimized to detect GSH and Lac simultaneously at 3 T using density-matrix simulations and validation in phantoms. Simulations to test for co-edited metabolites within the detected GSH region of the spectrum were also performed.

Effects of eddy currents on selective spectral editing experiments at 3T.

Purpose: To investigate frequency-offset effects in edited magnetic resonance spectroscopy (MRS) experiments arising from B eddy currents.

Materials And Methods: Macromolecule-suppressed (MM-suppressed) γ-aminobutyric acid (GABA)-edited experiments were performed at 3T. Saturation-offset series of MEGA-PRESS experiments were performed in phantoms, in order to investigate different aspects of the relationship between the effective editing frequencies and eddy currents associated with gradient pulses in the sequence.

A novel mutation in a Moroccan family with Zellweger spectrum disorders.

Mutations in the gene are usually associated with recessive inherited diseases including Zellweger spectrum disorders. In this work, we identified a new pathogenic missense homozygous mutation (p.Leu1026Pro, c.

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.

Deafness is one of the most common genetic diseases in humans and is subject to important genetic heterogeneity. The most common cause of non syndromic hearing loss (NSHL) is mutations in the GJB2 gene. This study aims to update and evaluate the spectrum of GJB2 allele variants in 152 Moroccan multiplex families with non syndromic hearing loss.

Echo time optimization for J-difference editing of glutathione at 3T.

Purpose: To investigate the echo time (TE) dependence of J-difference editing of glutathione and to determine the optimal TE for in vivo measurements at 3T.

Methods: Spatially resolved density-matrix simulations and phantom experiments were performed at a range of TEs to establish the spatial and TE modulation of glutathione signals in editing-on, editing-off, and difference spectra at 3T. In vivo data were acquired in five healthy subjects to compare a TE of 68 ms and a TE of 120 ms.

Comparison of brain gray and white matter macromolecule resonances at 3 and 7 Tesla.

Purpose: In proton MR spectra of the human brain, relatively broad macromolecule (MM) resonances underlie the narrower signals from metabolites. The purpose of this study was to quantify the MM profile in healthy human brain at 3T and 7T, both in gray matter (anterior cingulate cortex [ACC]) and white matter (centrum semiovale [CSO]).

Methods: A water-suppressed, inversion-recovery pulse sequence was used to null metabolite signals and acquire MM spectra in 20 healthy volunteers using very similar methodology at both field strengths (n = 5 per region and field).

Parvoviruses cause nuclear envelope breakdown by activating key enzymes of mitosis.

Disassembly of the nuclear lamina is essential in mitosis and apoptosis requiring multiple coordinated enzymatic activities in nucleus and cytoplasm. Activation and coordination of the different activities is poorly understood and moreover complicated as some factors translocate between cytoplasm and nucleus in preparatory phases. Here we used the ability of parvoviruses to induce nuclear membrane breakdown to understand the triggers of key mitotic enzymes.

Interaction of parvoviruses with the nuclear envelope.

Parvoviruses are serious pathogens but also serve as platforms for gene therapy or for using their lytic activity in experimental cancer treatment. Despite of their growing importance during the last decade little is known on how the viral genome is transported into the nucleus of the infected cell, which is crucial for replication. As nucleic acids are not karyophilic per se nuclear import must be driven by proteins attached to the viral genome.

Effects of magnesium ions on two EMCV IRES key activity fragments.

Using NMR magnetization transfer from water and ammonia-catalyzed exchange of the imino protons, changes have been monitored in base-pair kinetics induced by Mg(2 + ) in two key activity fragments r(CACCUGGCGACAGGUG) and r(GGCCAAAAGCC) of the encephalomyocarditis virus internal ribosome entry site. For r(CACCUGGCGACAGGUG), the addition of Mg(2 + ) reveals two types of base-pairs: r(U(545)·A) and r(G(546)·C), in the first category, have lifetimes only slightly higher in the presence of Mg(2 + ), whereas their dissociation constants are substantially reduced. This behavior has been termed proximal.

Combined effects of IL-8 and CXCR2 gene polymorphisms on breast cancer susceptibility and aggressiveness.

Background: Interleukin-8 (IL-8/CXCL-8) is a prototype of the ELR+CXC chemokines that play an important role in the promotion and progression of many human cancers including breast cancer. We have recently showed the implication of polymorphism (-251) T/A of IL-8 gene in the susceptibility and prognosis of breast carcinoma. IL-8 acts through its CXCR1 and CXCR2 receptors.

Comparison of the thermodynamics and base-pair dynamics of a full LNA:DNA duplex and of the isosequential DNA:DNA duplex.

Locked nucleic acids (LNA), conformationally restricted nucleotide analogues, are known to enhance pairing stability and selectivity toward complementary strands. With the aim to contribute to a better understanding of the origin of these effects, the structure, thermal stability, hybridization thermodynamics, and base-pair dynamics of a full-LNA:DNA heteroduplex and of its isosequential DNA:DNA homoduplex were monitored and compared. CD measurements highlight differences in the duplex structures: the homoduplex and heteroduplex present B-type and A-type helical conformations, respectively.

Mg2+ modulation of EMCV IRES key activity fragment equilibria and r(G*C) base-pair kinetics.

NMR magnetization transfer from water and ammonia-catalyzed exchange of the imino proton have been used to probe enhanced thermostability and conformational rearrangements induced by Mg(2+) in two key activity fragments r(CACCUGGCGACAGGUG) and r(GGCCAAAAGCC) of the encephalomyocarditis virus (EMCV) picornavirus internal ribosome entry site (IRES). We have measured some of their r(G*C) base-pair lifetimes and dissociation constants under different MgCl(2) conditions, and we compare them with those of other short RNA duplexes. The RNA fragment r(CACCUGGCGACAGGUG) adopts two topologies, a palindromic duplex with two conformations and a hairpin, whose equilibrium can be monitored: the duplex form is destabilized by Mg(2+) and temperature, a delicate balance wherein the entropic contribution of the free energy helps populate the hairpin state.

Internal sodium ions and water molecules in guanine quadruplexes: magnetic relaxation dispersion studies of [d(G3T4G3)]2 and [d(G4T4G4)]2.

The structural stability of guanine quadruplexes depends critically on an unusual configuration of dehydrated Na (+) or K (+) ions, closely spaced along the central axis of the quadruplex. Crystallography and NMR spectroscopy indicate that these internal ions can be located between the G-quartet planes as well as in the thymine loops, but the precise ion coordination has been firmly established in only a few cases. Here, we examine the bimolecular diagonal-looped foldback quadruplexes [d(G 3T 4G 3)] 2 (Q3) and [d(G 4T 4G 4)] 2 (Q4) by (2)H, (17)O, and (23)Na magnetic relaxation dispersion (MRD).

Interactions of ciprofloxacin with DPPC and DPPG: fluorescence anisotropy, ATR-FTIR and 31P NMR spectroscopies and conformational analysis.

The interactions between a drug and lipids may be critical for the pharmacological activity. We previously showed that the ability of a fluoroquinolone antibiotic, ciprofloxacin, to induce disorder and modify the orientation of the acyl chains is related to its propensity to be expelled from a monolayer upon compression [1]. Here, we compared the binding of ciprofloxacin on DPPC and DPPG liposomes (or mixtures of phospholipids [DOPC:DPPC], and [DOPC:DPPG]) using quasi-elastic light scattering and steady-state fluorescence anisotropy.

Molecular identification of pseudouridine-metabolizing enzymes.

Pseudouridine, a non-classical nucleoside present in human urine as a degradation product of RNAs, is one of the few molecules that has a glycosidic C-C bond. Through a data base mining approach involving transcriptomic data, we have molecularly identified two enzymes that are involved in the metabolism of pseudouridine in uropathogenic Escherichia coli, the principal agent of urinary tract infections in humans. The first enzyme, coded by the gene yeiC, specifically phosphorylates pseudouridine to pseudouridine 5'-phosphate.

Association of IL-8 (-251)T/A polymorphism with susceptibility to and aggressiveness of nasopharyngeal carcinoma.

Interleukin-8 (IL-8) is an angiogenic chemokine that plays a potent role in both development and progression of many human malignancies including nasopharyngeal carcinoma (NPC). In the present study, we evaluated the susceptibility and prognostic implications of the (-251) T/A genetic variation in IL-8 in NPC. We used the allele-specific polymerase chain reaction to characterize the variation of the IL-8 promoter region for 160 unrelated Tunisian patients with NPC and 169 healthy control subjects.