Imaging sphenoid diseases.

In this review we provide comprehensive analysis of the imaging features of diseases affecting the sphenoid sinus, including a large and heterogeneous spectrum of pathologies such as sinusitis, pseudotumours, bony pathologies, and tumours. Clinical symptomatology related to sphenoid pathologies is often non-specific and patient clinical examination and endoscopic investigations are not definitive; thus, radiological imaging is mandatory for diagnosis. Strengths and limitations of both morphological and functional imaging methods such as computed tomography (CT), magnetic resonance imaging (MRI), and combined positron-emission tomography/computed tomography (PET/CT) have been considered and integrated into a well-defined clinical context in order to recognise specific imaging features and to underline their clinical relevance for an early and accurate diagnosis. An overview of several sphenoid conditions is herein selected with a didactic objective including both common and less common diseases.

Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome.

Olfactory bulb (OB) volume evaluation by magnetic resonance imaging (MRI) has been demonstrated to be related to olfactory dysfunction in many different diseases. Olfactory dysfunction is often overlooked in Bardet-Biedl syndrome (BBS) patients and is rarely objectively evaluated by MRI. We present a series of 20 BBS patients with olfactory dysfunction. The OB was evaluated separately and blindly by two radiologists (SR and SM) with 3 Tesla MRI imaging comparatively to 12 normal control subjects by global visual evaluation and by quantitative measurement of OB volume. In the 12 control cases OB visual evaluation was considered as normal in all cases for radiologist (SR) and in 10 cases for radiologist (SM). In the 20 BBS patients, OB visual evaluation was considered as abnormal in 18 cases for SR and in all cases for SM. OB volumetric evaluation for SR and SM in BBS patients was able to provide significant correlation between BBS and olfactory dysfunction. This study indicates that OB volume evaluation by MRI imaging like structural MRI scan for gray matter modifications demonstrates that olfactory dysfunction in BBS patients is a constant and cardinal symptom integrated in a genetical syndrome with peripheral and central olfactory structure alterations.

A randomized phase III study comparing pegylated liposomal doxorubicin with capecitabine as first-line chemotherapy in elderly patients with metastatic breast cancer: results of the OMEGA study of the Dutch Breast Cancer Research Group BOOG.

BACKGROUND: Prospective data on chemotherapy for elderly patients with metastatic breast cancer (MBC) remain scarce. We compared the efficacy and safety of first-line chemotherapy with pegylated liposomal doxorubicin (PLD) versus capecitabine in MBC patients aged ≥65 years in a multicentre, phase III trial. PATIENTS AND METHODS: Patients were randomized to six cycles of PLD (45 mg/m(2) every 4 weeks) or eight cycles of capecitabine (1000 mg/m(2) twice daily, day 1-14 every 3 weeks). RESULTS: The study enrolled 78 of the planned 154 patients and was closed prematurely due to slow accrual and supply problems of PLD. Many included patients were aged ≥75 years (54%) and vulnerable (≥1 geriatric condition: 71%). The median dose intensity was 85% for PLD and 84% for capecitabine, respectively. In both arms, the majority of patients completed at least 12 weeks of treatment (PLD 73%; capecitabine 74%). After a median follow-up of 39 months, 77 patients had progressed and 62 patients had died of MBC. Median progression-free survival was 5.6 versus 7.7 months (P = 0.11) for PLD and capecitabine, respectively. Median overall survival was 13.8 months for PLD and 16.8 months for capecitabine (P = 0.59). Both treatments were feasible, grade 3 toxicities consisting of fatigue (both arms: 13%), hand-foot syndrome (PLD: 10%; capecitabine: 16%), stomatitis (PLD: 10%; capecitabine: 3%), exanthema (PLD: 5%) and diarrhoea (PLD: 3%; capecitabine: 5%). Only 1 of 10 patients aged ≥80 years completed chemotherapy, while 3 and 6 patients discontinued treatment due to toxicity or progressive disease, respectively. CONCLUSION: Both PLD and capecitabine demonstrated comparable efficacy and acceptable tolerance as first-line single-agent chemotherapy in elderly patients with MBC, even in vulnerable patients or patients aged ≥75 years. However, patients aged ≥80 years were unlikely to complete chemotherapy successfully. CLINICAL TRIAL NUMBERS: EudraCT 2006-002046-10; ISRCTN 11114726; CKTO 2006-09; BOOG 2006-02.

Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome.

Bardet-Biedl syndrome (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, polydactyly, obesity, hypogonadism, renal and cognitive impairment. Recently, disorders of olfaction (anosmia, hyposmia) have been also described in BBS patients. Moreover, morphological brain anomalies have been reported and prompt for further investigations to determine whether they are primary or secondary to peripheral organ involvement (i.e. visual or olfactory neuronal tissue). The objective of this article is to evaluate olfactory disorders in BBS patients and to investigate putative correlation with morphological cerebral anomalies. To this end, 20 BBS patients were recruited and evaluated for olfaction using the University of Pennsylvania Smell Identification Test (UPSIT). All of them underwent a structural magnetic resonance imaging (MRI) scan. We first investigated brain morphological differences between BBS subjects and 14 healthy volunteers. Then, we showed objective olfaction disorders in BBS patients and highlight correlation between gray matter volume reduction and olfaction dysfunction in several brain areas.

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.

Ciliopathies are heterogeneous disorders sharing different clinical signs due to a defect at the level of the primary cilia/centrosome complex. Postaxial polydactyly is frequently reported in ciliopathies, especially in Bardet-Biedl syndrome (BBS). Clinical features and genetic results observed in a pair of dizygotic twins with BBS are reported. The following manifestations were present: retinitis pigmentosa, bilateral insertional polydactyly, cognitive impairment and renal dysfunction. X-rays of the hands confirmed the presence of a 4th mesoaxial extra-digit with Y-shaped metacarpal bones. The sequencing of LZTFL1 identified a missense mutation (NM_020347.2: p.Leu87Pro; c.260T>C) and a nonsense mutation (p.Glu260*; c.778G>T), establishing a compound heterozygous status for the twins. A major decrease of LZTFL1 transcript and protein was observed in the patient's fibroblasts. This is the second report of LZTFL1 mutations in BBS patients confirming LZTFL1 as a BBS gene. Interestingly, the only two families reported in literature thus far with LZTFL1 mutations have in common mesoaxial polydactyly, a very uncommon feature for BBS. This special subtype of polydactyly in BBS patients is easily identified on clinical examination and prompts for priority sequencing of LZTFL1 (BBS17).

Pseudotumoral allergic fungal sinusitis with skull base involvement.

Here we report a case of pseudotumoral recurrence of allergic fungal sinusitis with involvement of the skull base that was successfully treated with systemic corticosteroids and itraconazole without surgery. This report discusses the sometimes misleading radiological and clinical features as well as the diagnostic and therapeutic challenges of a condition that should be recognized by ENT specialists, neurosurgeons, ophtalmologists and radiologists.

Cisplatinum combined with etoposide. Effective therapy for metastasised squamous-cell carcinoma of the cervix.

Three patients with metastasising squamous-cell carcinoma of the cervix are presented who entered long-term complete remission after treatment with cisplatinum and etoposide.

Imaging in sinonasal sarcoidosis: CT, MRI, 67Gallium scintigraphy and 18F-FDG PET/CT features.

OBJECTIVES: Attempt to describe and analyse the radiological and nuclear medicine patterns of sinonasal sarcoidosis (SNS) still poorly reported in the literature. MATERIAL AND METHODS: Retrospective single institution study of 22 consecutive patients with symptomatic biopsy-proven SNS to evaluate the interest of CT, MRI, (67)Ga scintigraphy and (18)F-FDG PET/CT for diagnosis and therapeutic follow-up. RESULTS: Nodules of the septum and turbinates are the most suggestive CT and MRI features. Other CT features such as sinusal filling, mucosal thickening, osteosclerosis or destructive sinonasal lesions are not specific and depend on clinical context and evolutive stage of SNS. (18)F-FDG PET/CT provides complete morphofunctional mapping of active inflammatory sites related to sarcoidosis with a better diagnostic sensitivity (100%) compared to (67)Gallium scintigraphy (75%). The changes in (18)F-FDG uptake intensity could reflect the efficacy of treatment. CONCLUSION: SNS is an uncommon and probably underdiagnosed phenotype of sarcoidosis. Even if guided biopsy remains necessary for SNS confirmation, medical imaging plays an important role in diagnosis and therapeutic follow-up. CT features with nodules of the septum and/or turbinates are suggestive of SNS contrary to other nonspecific CT findings. CT imaging is directly related severity, reversibility and course of SNS and provide an original radiological staging system in order to predict patient clinical outcome. PET/CT may be used for diagnosis assessement but also to monitor treatment response in a given clinical context, in a patient with histopathologically-proven SNS. Prospective and long term studies are necessary to validate these preliminary results.

Complex rhinobronchial dystrophy and immunodeficiency: Chance association or exceptional congenital syndrome?

INTRODUCTION: We report a case of an exceptional syndromic association of apparently congenital rhinobronchial dystrophy associated with congenital anosmia and common variable immunodeficiency in a twelve-year-old girl. CASE SUMMARY: This young girl, born in 2000, consulted for the first time in 2012 for recurrent respiratory tract infections, refractory to all forms of treatment, starting in early childhood, associated with congenital anosmia and severe atrophic rhinitis as well as common variable immunodeficiency. The laboratory work-up essentially revealed IgG4 deficiency and imaging demonstrated bronchiectasis (lingula), multiple tracheobronchial diverticula, atrophic rhinitis and congenital anosmia with agenesis of the olfactory bulbs and sulci. DISCUSSION: After eliminating a number of differential diagnoses, we were left with the problem of the aetiology, the possible links between these various symptoms and the genetic basis for this apparently congenital complex rhinobronchial disease associated with common variable immunodeficiency. Do these various symptoms correspond to a chance association or an exceptional congenital syndrome that has not yet been identified in the literature? CONCLUSION: A review of the clinical and genetic literature did not enable us to propose a single diagnosis for these symptoms or this complex syndrome.

Potash fertilizer promotes incipient salinization in groundwater irrigated semi-arid agriculture.

Incipient groundwater salinization has been identified in many arid and semi-arid regions where groundwater is increasingly used for irrigation, but the dominant processes at stake in such context are yet uncertain. Groundwater solutes originates from various sources such as atmospheric inputs, rock dissolution and fertilizer residues, and their concentration is controlled by hydrological processes, in particular evapotranspiration. Here, we propose a deconvolution method to identify the sources and processes governing the groundwater Chloride concentration in agricultural catchments, using the relative variations of Sodium and Chloride and using a neighbouring pristine catchment as a reference for the release rate of Na by weathering. We applied the deconvolution method to the case of the Kabini Critical Zone Observatory, South India, where groundwater was sampled in 188 farm tubewells in the semi-arid catchment of Berambadi and in 5 piezometers in the pristine catchment of Mule Hole. In Berambadi, groundwater composition displayed a large spatial variability with Cl contents spanning 3 orders of magnitude. The results showed that the concentration factor due to evapotranspiration was on average about 3 times more than in the natural system, with higher values in the valley bottoms with deep Vertisols. Linked with this process, large concentration of Chloride originating from rain was found only in these areas. At the catchment scale, about 60 percent of the Chloride found in groundwater originates from fertilizer inputs. These results show that Potassium fertilization as KCl is an important source of groundwater salinization in semi-arid context, and stress that identifying dominant drivers is crucial for designing efficient mitigation policies.

[Value of CT in allergic fungal sinusitis (AFS)]. / Intérêt de la tomodensitométrie dans la sinusite fongique allergique (SFA).

PURPOSE: To assess the value of CT for diagnosis and follow-up of AFS. Evaluation of characteristic CT features of AFS. METHODS: Retrospective review of 12 cases of AFS presenting with all published diagnostic criteria (1) chronic rhinosinusitis refractory to standard management (2) CT features of chronic sinusitis (3) anatomopathologic, immunoallergologic, biochemical and mycologic criteria. CT findings were correlated with surgical findings and reviewed by one ENT and two radiologists to assess the diagnostic value of different CT features, alone or in association. RESULTS: AFS was isolated in 6 cases, and associated with allergic bronchopulmonary aspergillosis (ABPA) in 6 cases. CT showed pan- or polysinusitis, unilateral or bilateral, with mucosal thickening, sinus opacification frequently heterogeneous, bony changes, fluid trapping, and with pseudotumoral appearance in 3 cases. CONCLUSION: CT findings alone are not specific or pathognomonic but may suggest AFS in the correct clinical or immunoallergologic setting. It may alert the physician to the need for complementary work-up, exclude the presence of associated lung disease, and better adapt treatment and follow-up.

[The usefulness of nasal provocation tests for respiratory physicians]. / Intérêt des tests de provocation nasale pour le pneumologue.

Rhinitis and asthma are common diseases that are strongly linked from both the epidemiological and patho-physiological point of view. A precise aetiological diagnosis is required in order to optimize treatment. Nasal provocation tests (NPT) determine precisely the role of the allergen in the initiation of the symptoms of rhinitis particularly when the history does not produce convincing evidence of the clinical relevance of an allergen. It may also have important consequences for the choice of an allergenic immunotherapy. NPT are not standardized but simple methods based on international recommendations provide us with good diagnostic accuracy. In this paper, we will discuss the practical aspects of NPT as well as the clinical or research situations where they may be useful for the respiratory physician.

[Vocal cord dyskinesia and/or asthma]. / Dyskinésie des cordes vocales et/ou asthme.

INTRODUCTION: Vocal cord dyskinesia or vocal cord dysfunction (VCD) is characterized by intermittent abnormal adduction of the vocal cords leading to airflow limitation at the level of the larynx, in the absence of local organic disease. It may occur in isolation or in association with asthma. The pathophysiology is complex and poorly understood. Wheeze, stridor or apparent upper airway obstruction are the most common symptoms. It occurs in a wide age range, more commonly in women, and diagnosis is often delayed and leads to unnecessary treatments (intubation, tracheostomy and high dose steroids). METHODS: A retrospective study of 15 cases of VCD (8 cases of isolated VCD and 7 cases of VCD with associated asthma) describing the main clinical features and the diagnosis strategy. RESULTS: Apparent upper airway obstruction, with or without associated asthma, requires an ear nose and throat examination with laryngoscopy to confirm the paradoxical adduction of the vocal cords during an acute episode of dyspnoea or during a provocation test with triggers like exercise or exposure to irritants, and for the purpose of differential diagnosis. CONCLUSIONS: VCD remains under-appreciated and misdiagnosed, often by mimicking asthma with which it can be associated. A delayed diagnosis by emergency specialists, pulmonologists and ear nose and throat surgeons leads to unnecessary treatments and morbidity before specific therapy can be given.

Diagnosis of primary ciliary dyskinesia: When and how?

INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare congenital disorder involving permanent ubiquitous structural and/or functional ciliary abnormalities. METHODS: A single-center retrospective study included 56 cases of PCD (respiratory form) out of a cohort of 280 patients with suspected PCD. The main features of history-taking and clinical examination were analyzed, to formulate a pragmatic diagnostic procedure, easy to implement in clinical practice. RESULTS: Chronic respiratory tract infectious symptoms are sensitive but non-specific for the diagnosis of PCD. Nasal brushing for phase-contrast microscopy study of ciliary morphology and activity proved to be a fast, easy, non-invasive, cost-effective and age-independent diagnostic method. In doubtful cases, depending on local availability, further tests are indicated: nasal nitric oxide level, electronic microscopy, genetic study and cell culture. CONCLUSIONS: In suspected PCD, there being no gold standard method of screening and early diagnosis, nasal brushing with ciliary study is contributive, alongside numerous other complementary tests, on condition that the clinician is experienced and results are interpreted in the light of clinical examination and history-taking.

[Congenital lacrimonasal duct cyst: Do not forget this radiological and clinical entity]. / Kyste lacrymonasal congénital: une entité radioclinique à ne pas méconnaître.

Although obstruction of the lacrimonasal duct is a fairly common finding in newborns, development of a dacryocystocele (nasolacrimal duct cyst) is uncommon and is caused by stenosis in the proximal and distal area of the nasolacrimal duct leading to a cystic dilatation. Its diagnosis remains difficult for the pediatrician, the ENT specialist, the ophthalmologist, and the radiologist. The study of six cases of dacryocystocele and the review of the literature led the authors to describe the clinical and radiological features of this uncommon entity. The symptomatology includes nasal obstruction and, when bilateral, significant respiratory distress in the newborn (obligate nose-breather) and dilatation of the lacrimal duct with blue cystic swelling inferior to the medial canthus or with an inflammatory aspect of the lacrimal duct in case of infection. A careful endoscopic examination of the nasal cavities and CT or MRI imaging reveals a cystic tumor, which arises in the inferior meatus, inferolateral to the inferior turbinate, and can partly or completely obstruct the endonasal space, uni- or bilaterally. CT and MRI are equally sensitive in detecting dacryocystocele and are also useful for differential diagnosis for other cystic or tumoral nasal lesions such as meningoencephalocele, dermoid cyst, and glioma. To avoid the risk of potential complications (respiratory distress or even sudden infant death, infectious ophthalmologic complications), this radiological and clinical entity should not be forgotten. Endoscopic marsupialization leads to immediate and definitive healing recovery.

Value of estrogenic recruitment before chemotherapy: first randomized trial in primary breast cancer.

PURPOSE: Several preclinical studies showed that short-term pretreatment of breast cancer cells with estrogens can increase the antitumor efficacy of different cytotoxic drugs. Some early clinical studies in patients with advanced breast cancer did seem to support these findings. Therefore, the efficacy of estrogenic recruitment followed by chemotherapy was compared with that of chemotherapy alone in a randomized phase III study in women with lymph node-positive primary breast cancer. PATIENTS AND METHODS: Three hundred twenty-eight patients with stage II/IIIA breast cancer who were younger than 66 years of age were randomly allocated to chemotherapy with fluorouracil, doxorubicin, and cyclophosphamide (FAC) or FAC plus pretreatment with ethinyl estradiol (EE(2)). FAC (500, 50, and 500 mg/m(2), respectively) was administered intravenously once every 4 weeks for four cycles. EE(2) (0.5 mg) was administered orally, both 24 hours and immediately preceding FAC chemotherapy. RESULTS: Patient and tumor characteristics and chemotherapy dosages were comparable in both treatment groups. Of 318 assessable patients, with a median follow-up of 6.8 years, 177 patients had a relapse and 127 died. No significant differences were observed between the two treatment groups with respect to relapse-free, local recurrence-free, and overall survival according to univariate and multivariate analyses adjusted for age, menopausal status, tumor size, grade, number of positive nodes, and steroid-receptor status. The power for the detection of an increase of 50% in the median relapse-free survival was 80%. CONCLUSION: Estrogenic recruitment of breast cancer cells before FAC chemotherapy did not influence the efficacy of adjuvant chemotherapy in stage II/IIIA breast cancer patients after a follow-up of 6.8 years.

[Allergic fungal sinusitis and allergic broncho-pulmonary aspergillosis: a fortuitous association or a nosological rhino-bronchial entity?]. / Sinusite fongique allergique et aspergillose bronchopulmonaire allergique. Association fortuite ou entité nosologique rhinobronchique?

INTRODUCTION: The identification of allergic fungal sinusitis (AFS) is much more recent than that of allergic broncho-pulmonary aspergillosis (ABPA) and may still be incomplete and controversial. Their association has been only rarely reported in the literature. Is it a matter of a fortuitous association or of a well defined and/or new nosological rhino-bronchial entity? METHODS: A retrospective study was undertaken from a series of 10 cases of AFS with 4 cases associated with ABPA and fulfilling all the diagnostic criteria described in the literature. RESULTS: The association of AFS and ABPA may be concomitant (2 cases) or not (2 cases) with a possible time lag of several years between the onset of naso-sinal and broncho-pulmonary disease, even after recovery from the original episode. Treatment comprising steroids, endoscopic surgery (4 cases) combined with anti-fungal drugs (2 cases), led to resolution (2 cases), a considerable improvement (1 case) and therapeutic failure in 1 case (follow up longer than 4 years in all cases). CONCLUSION: The association, concomitant or remote in time, of AFS and ABPA emphasises the unity of the upper and lower airways as well as the pathophysiological relationship between these two fungal respiratory diseases. The prevalence of this association remains low and the treatment is not standardised.

[The respiratory mucociliary system and its exploration in primary ciliary dyskinesia]. / Le système mucociliaire respiratoire et son exploration dans le cadre de la dyskinésie ciliaire primitive.

BACKGROUND: We analyzed the main characteristic features of the respiratory epithelium mucociliary system and the different tests of ciliary beat and mucociliary transport (mucociliary clearance). This knowledge is necessary for an often interdisciplinary diagnosis and treatment of primary ciliary dyskinesia. METHODS: Review of the literature and personal experience of the different tests of ciliary structure and function. RESULTS: This disease is characterized by abnormalities in ciliary structure/function. The genetic mechanisms and the ultrastructural abnormalities that are involved are heterogenous compared to the relative homogeneity of the clinical presentation. CONCLUSION: The diagnostic criteria are compatible clinical features (chronic upper airway and bronchopulmonary infections, situs inversus...) coupled with tests of ciliary structure and function.

[Primary ciliary dyskinesia. Clinical presentation and diagnosis]. / La dyskinésie ciliaire primitive. Etude clinique et diagnostic.

UNLABELLED: Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in ciliary structure/function. OBJECTIVE: We analyzed the main clinical features and test results of PCD in order to evaluate their usefulness for diagnosis. PATIENTS AND METHODS: Retrospective study of 35 cases of PCD evaluated by the same team, with nasal brushings in all cases (special light microscopy) and electron microscopy and/or by isotopic mucociliary clearance study in some. RESULTS: In a cohort of 145 patients with suspected PCD, the diagnosis of PCD was established in 35 cases using a combination of compatible clinical features coupled with the study of nasal brushings: 13 females and 22 males, average age at time of diagnosis 25 years, situs inversus in 12 patients (34%). CONCLUSION: In the absence of consensus in the literature for diagnosis of PCD, we propose the association of the following diagnostic criteria: upper airway and bronchopulmonary infections beginning often early in the life, more inconstantly situs inversus, familial cases of PCD, consanguinity, infertility and permanent and ubiquitous abnormalities of ciliary structure/function. Nasal brushing with ciliary study (special light microscopy) seems to be an easy and reliable diagnostic criterion. Electron microscopy is necessary for proving ultrastructural abnormalities.

Controls of DSi in streams and reservoirs along the Kaveri River, South India.

There is an increasing body of evidence showing that land use may affect the concentration and flux of dissolved silica (DSi) and amorphous, biogenic Si particles (ASi/BSi) in surface waters. Here, we present a study of riverine waters collected within the Kaveri River Basin, which has a long history of land occupation with +43% population increase in the watershed during the last 30 years associated with agricultural practices including canal irrigation from reservoirs and, more recently, bore well pumping. We report total dissolved solids (TDS) and suspended material (TSM) for 15 river stations and 5 reservoirs along the Kaveri itself and its main tributaries sampled during pre-monsoon, monsoon and post-monsoon periods in 2006 and 2007. The TDS in the Kaveri River globally increases from the upper reaches (humid to sub-humid climate) to the lower reaches (semi-arid climate), and at a given station from monsoon (M) to hot season (HS). The DSi concentrations range from 129 µmol L(-1) (M) to 390 µmol L(-1) (HS) in the main Kaveri stream and reaches up to 686 µmol L(-1) in the Shimsha River (HS). Our results indicate that DSi and the main solutes of the Kaveri River have not drastically changed since the last 30 years despite the population increase. The pollution index of Van der Weijden and Pacheco (2006) ranges from 13% to 54% but DSi does not seem to be affected by domestic wastewater. ASi is mostly composed of diatoms and phytoliths that both play roles in controlling DSi. We suggest that DSi and ASi delivered to the cultivated areas through irrigation from reservoir may have two important consequences: increasing Si bioavailability for crops and limiting Si flux to the ocean.