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1.
Sci Rep ; 10(1): 3691, 2020 02 28.
Article in English | MEDLINE | ID: mdl-32111896

ABSTRACT

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.

2.
Eur Ann Otorhinolaryngol Head Neck Dis ; 137(2): 135-137, 2020 Mar.
Article in English | MEDLINE | ID: mdl-31734144

ABSTRACT

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.


Subject(s)
Bronchial Diseases/congenital , Common Variable Immunodeficiency/congenital , Nose Diseases/congenital , Olfaction Disorders/congenital , Bronchial Diseases/diagnosis , Child , Common Variable Immunodeficiency/diagnosis , Female , Humans , Nose Diseases/diagnosis , Olfaction Disorders/diagnosis , Syndrome
3.
Rev Mal Respir ; 35(8): 788-795, 2018 Oct.
Article in French | MEDLINE | ID: mdl-30174237

ABSTRACT

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.


Subject(s)
Asthma/diagnosis , Nasal Provocation Tests , Pulmonary Medicine , Rhinitis/diagnosis , Allergens/administration & dosage , Humans , Nasal Provocation Tests/methods , Nasal Provocation Tests/standards , Practice Patterns, Physicians'/statistics & numerical data , Predictive Value of Tests , Pulmonary Medicine/methods , Pulmonary Medicine/standards , Rhinitis, Allergic, Perennial/diagnosis , Rhinitis, Allergic, Seasonal/diagnosis , Skin Tests
4.
Clin Radiol ; 73(9): 761-772, 2018 09.
Article in English | MEDLINE | ID: mdl-29685802

ABSTRACT

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.


Subject(s)
Paranasal Sinus Diseases/diagnostic imaging , Sphenoid Sinus/diagnostic imaging , Diagnosis, Differential , Humans , Magnetic Resonance Imaging , Positron Emission Tomography Computed Tomography , Tomography, X-Ray Computed
6.
Rev Mal Respir ; 35(1): 62-68, 2018 Jan.
Article in French | MEDLINE | ID: mdl-29397301

ABSTRACT

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.


Subject(s)
Asthma/complications , Asthma/diagnosis , Dyskinesias/diagnosis , Vocal Cord Dysfunction/complications , Vocal Cord Dysfunction/diagnosis , Vocal Cords/pathology , Adolescent , Adult , Aged , Diagnosis, Differential , Dyskinesias/complications , Dyspnea/diagnosis , Dyspnea/etiology , Female , Humans , Laryngoscopy , Male , Middle Aged , Respiratory Sounds , Retrospective Studies , Vocal Cords/diagnostic imaging , Young Adult
7.
Eur Ann Otorhinolaryngol Head Neck Dis ; 134(6): 377-382, 2017 Dec.
Article in English | MEDLINE | ID: mdl-28501546

ABSTRACT

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.


Subject(s)
Kartagener Syndrome/diagnosis , Microscopy, Electron , Adult , Child, Preschool , Diagnosis, Differential , Early Diagnosis , Female , Humans , Male , Predictive Value of Tests , Retrospective Studies , Sensitivity and Specificity
8.
Arch Pediatr ; 23(2): 192-6, 2016 Feb.
Article in French | MEDLINE | ID: mdl-26724215

ABSTRACT

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.


Subject(s)
Cysts/congenital , Lacrimal Apparatus Diseases/congenital , Nasolacrimal Duct , Cysts/diagnosis , Female , Humans , Infant , Infant, Newborn , Lacrimal Apparatus Diseases/diagnosis , Male
9.
Clin Genet ; 90(1): 79-83, 2016 07.
Article in English | MEDLINE | ID: mdl-26586152

ABSTRACT

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.


Subject(s)
Bardet-Biedl Syndrome/diagnostic imaging , Microtubule-Associated Proteins/genetics , Mutation , Olfaction Disorders/diagnostic imaging , Olfactory Bulb/diagnostic imaging , Adolescent , Adult , Bardet-Biedl Syndrome/genetics , Bardet-Biedl Syndrome/pathology , Case-Control Studies , Female , Gene Expression , Humans , Magnetic Resonance Imaging , Male , Microtubule-Associated Proteins/metabolism , Middle Aged , Multigene Family , Olfaction Disorders/genetics , Olfaction Disorders/pathology , Olfactory Bulb/metabolism , Olfactory Bulb/pathology , Organ Size/genetics , Protein Isoforms/genetics , Protein Isoforms/metabolism , Smell/physiology
10.
Sci Total Environ ; 502: 103-13, 2015 Jan 01.
Article in English | MEDLINE | ID: mdl-25244037

ABSTRACT

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.


Subject(s)
Environmental Monitoring , Humic Substances/analysis , Rivers/chemistry , Water Pollutants/analysis , Agriculture , India , Seasons
11.
Eur J Cancer ; 50(18): 3077-88, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25459393

ABSTRACT

BACKGROUND: The addition of bevacizumab to paclitaxel or capecitabine has demonstrated improved progression-free survival (PFS) and objective response rate (ORR) as compared with chemotherapy alone in patients with HER2-negative locally recurrent or metastatic breast cancer (LR/MBC). We evaluated the efficacy and safety of first-line therapy of paclitaxel and bevacizumab with or without capecitabine in patients with HER2-negative LR/MBC. METHODS: In this multicentre, open-label, randomised phase II trial, women with HER2-negative LR/MBC were randomly assigned in a 1:1 ratio to paclitaxel (90 mg/m2 intravenously [IV] on days 1, 8, and 15) and bevacizumab (10 mg/kg IV on days 1 and 15) every 4 weeks for six cycles, followed by bevacizumab (15 mg/kg IV on day 1) every 3 weeks (AT) or to paclitaxel (90 mg/m2 IV on days 1 and 8), bevacizumab (15 mg/kg IV on day 1) and capecitabine (825 mg/m2 orally twice daily on days 1­14) every 3 weeks for eight cycles, followed by bevacizumab and capecitabine at the same doses every 3 weeks (ATX). The primary end-point was investigator-assessed PFS. Secondary end-points included ORR, duration of response, overall survival (OS) and safety. Exploratory analyses were conducted to evaluate the impact of capecitabine on OS and to validate a novel prognostic model. This trial is registered with EudraCT, number 2006-006058-83. FINDINGS: Median PFS was significantly longer in ATX as compared with AT (11.2 months versus 8.4 months; stratified hazard ratio (HR), 0.52; 95% confidence interval (CI), 0.41­0.67; p < 0.0001). The ORR in ATX patients with measurable disease (n = 268) was higher than that in AT (69% versus 51%; p = 0.01). The median duration of response was 6.8 versus 5.4 months for, respectively, ATX and AT (p < 0.0001). Median OS was 24.2 months for ATX and 23.1 months for AT (p = 0.53). The increased rate of grade 3­4 adverse events related to the addition of capecitabine, being hand-foot syndrome (34% versus 0% for AT) and neutropenia (20% versus 12% for AT), generally did not preclude continuation of treatment. Exploratory analyses indicated that (1) patients receiving capecitabine at some line for treatment have significantly improved OS and (2) a prognostic model can classify patients into three risk groups associated with OS. INTERPRETATION: In patients with HER2-negative LR/MBC, addition of capecitabine to paclitaxel and bevacizumab significantly improved PFS, ORR and response duration. This combination was reasonably well tolerated and may be considered of use as first-line treatment in rapidly progressive disease. FUNDING: F. Hoffmann-La Roche Ltd, the Netherlands.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Neoplasm Recurrence, Local/drug therapy , Triple Negative Breast Neoplasms/drug therapy , Adult , Aged , Antibodies, Monoclonal, Humanized/administration & dosage , Antibodies, Monoclonal, Humanized/adverse effects , Bevacizumab , Capecitabine , Deoxycytidine/administration & dosage , Deoxycytidine/adverse effects , Deoxycytidine/analogs & derivatives , Disease Progression , Female , Fluorouracil/administration & dosage , Fluorouracil/adverse effects , Fluorouracil/analogs & derivatives , Humans , Middle Aged , Paclitaxel/administration & dosage , Paclitaxel/adverse effects , Treatment Outcome , Triple Negative Breast Neoplasms/pathology
12.
Clin Genet ; 86(6): 521-9, 2014 Dec.
Article in English | MEDLINE | ID: mdl-24684473

ABSTRACT

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.


Subject(s)
Bardet-Biedl Syndrome/physiopathology , Brain/pathology , Olfaction Disorders/etiology , Adolescent , Adult , Atrophy , Case-Control Studies , Female , Humans , Magnetic Resonance Imaging , Male , Retinitis Pigmentosa/etiology , Smell/physiology , Young Adult
13.
B-ENT ; 10(1): 75-9, 2014.
Article in English | MEDLINE | ID: mdl-24765833

ABSTRACT

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.


Subject(s)
Aspergillosis/diagnosis , Aspergillosis/therapy , Aspergillus fumigatus , Rhinitis, Allergic, Perennial/microbiology , Sinusitis/microbiology , Skull Base/microbiology , Female , Humans , Middle Aged , Rhinitis, Allergic , Rhinitis, Allergic, Perennial/diagnosis , Rhinitis, Allergic, Perennial/therapy , Sinusitis/diagnosis , Sinusitis/therapy
14.
Ann Oncol ; 25(3): 599-605, 2014 Mar.
Article in English | MEDLINE | ID: mdl-24504445

ABSTRACT

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.


Subject(s)
Breast Neoplasms/drug therapy , Deoxycytidine/analogs & derivatives , Doxorubicin/analogs & derivatives , Fluorouracil/analogs & derivatives , Aged , Aged, 80 and over , Antibiotics, Antineoplastic/adverse effects , Antibiotics, Antineoplastic/pharmacology , Antimetabolites, Antineoplastic/adverse effects , Antimetabolites, Antineoplastic/therapeutic use , Antineoplastic Combined Chemotherapy Protocols/adverse effects , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Breast Neoplasms/mortality , Capecitabine , Deoxycytidine/adverse effects , Deoxycytidine/therapeutic use , Disease-Free Survival , Doxorubicin/adverse effects , Doxorubicin/therapeutic use , Female , Fluorouracil/adverse effects , Fluorouracil/therapeutic use , Humans , Neoplasm Metastasis/drug therapy , Netherlands , Polyethylene Glycols/adverse effects , Polyethylene Glycols/therapeutic use , Prospective Studies , Treatment Outcome
15.
Clin Genet ; 85(5): 476-81, 2014 May.
Article in English | MEDLINE | ID: mdl-23692385

ABSTRACT

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).


Subject(s)
Bardet-Biedl Syndrome/genetics , Fingers/abnormalities , Mutation/genetics , Polydactyly/genetics , Toes/abnormalities , Transcription Factors/genetics , Adult , Bardet-Biedl Syndrome/physiopathology , DNA Mutational Analysis , Female , Fingers/physiopathology , Heterozygote , Humans , Pedigree , Polydactyly/physiopathology , Toes/physiopathology , Twins
16.
Breast ; 23(1): 81-7, 2014 Feb.
Article in English | MEDLINE | ID: mdl-24314824

ABSTRACT

AIM: To evaluate the association between baseline comprehensive geriatric assessment (CGA) or the Groningen Frailty Indicator (GFI) and toxicity in elderly metastatic breast cancer (MBC) patients treated with first-line palliative chemotherapy. PATIENTS AND METHODS: MBC patients (≥65 years) were randomized between pegylated liposomal doxorubicine or capecitabine. CGA included instrumental activities of daily living (IADL), cognition using the mini-mental state examination (MMSE), mood using the geriatric depression scale (GDS), comorbidity using the Charlson index, polypharmacy and nutritional status using the body mass index. Frailty on CGA was defined as one or more of the following: IADL ≤ 13, MMSE ≤ 23, GDS ≥ 5, BMI ≤ 20, ≥5 medications or Charlson ≥2. The cut-off for frailty on the GFI was ≥4. RESULTS: Of the randomized 78 patients (median age 75.5 years, range 65.8-86.8 years), 73 were evaluable for CGA; 52 (71%) had one or more geriatric conditions. Grade 3-4 chemotherapy-related toxicity was experienced by 19% of patients without geriatric conditions compared to 56% of patients with two geriatric conditions and 80% of those with three or more (p = 0.002). Polypharmacy was the only individual factor significantly associated with toxicity (p = 0.001). GFI had a sensitivity of 69% and a specificity of 76% for frailty on CGA, and was not significantly associated with survival or toxicity. CONCLUSION: In this study of elderly patients with MBC, the number of geriatric conditions correlated with grade 3-4 chemotherapy-related toxicity. Therefore, in elderly patients for whom chemotherapy is being considered, a CGA could be a useful addition to the decision-making process.


Subject(s)
Antineoplastic Agents/adverse effects , Breast Neoplasms/drug therapy , Deoxycytidine/analogs & derivatives , Doxorubicin/analogs & derivatives , Fluorouracil/analogs & derivatives , Geriatric Assessment , Activities of Daily Living , Aged , Aged, 80 and over , Antineoplastic Agents/therapeutic use , Body Mass Index , Breast Neoplasms/epidemiology , Breast Neoplasms/pathology , Capecitabine , Cognition Disorders/epidemiology , Comorbidity , Deoxycytidine/adverse effects , Deoxycytidine/therapeutic use , Depression/epidemiology , Doxorubicin/adverse effects , Doxorubicin/therapeutic use , Fatigue/chemically induced , Female , Fluorouracil/adverse effects , Fluorouracil/therapeutic use , Frail Elderly , Hand-Foot Syndrome/etiology , Humans , Mental Status Schedule , Palliative Care , Polyethylene Glycols/adverse effects , Polyethylene Glycols/therapeutic use , Polypharmacy , Risk Factors , Stomatitis/chemically induced , Treatment Outcome
17.
Environ Sci Pollut Res Int ; 21(7): 5098-120, 2014 Apr.
Article in English | MEDLINE | ID: mdl-24374620

ABSTRACT

The study presents a 3-year time series data on dissolved trace elements and rare earth elements (REEs) in a monsoon-dominated river basin, the Nethravati River in tropical Southwestern India. The river basin lies on the metamorphic transition boundary which separates the Peninsular Gneiss and Southern Granulitic province belonging to Archean and Tertiary-Quaternary period (Western Dharwar Craton). The basin lithology is mainly composed of granite gneiss, charnockite and metasediment. This study highlights the importance of time series data for better estimation of metal fluxes and to understand the geochemical behaviour of metals in a river basin. The dissolved trace elements show seasonality in the river water metal concentrations forming two distinct groups of metals. First group is composed of heavy metals and minor elements that show higher concentrations during dry season and lesser concentrations during the monsoon season. Second group is composed of metals belonging to lanthanides and actinides with higher concentration in the monsoon and lower concentrations during the dry season. Although the metal concentration of both the groups appears to be controlled by the discharge, there are important biogeochemical processes affecting their concentration. This includes redox reactions (for Fe, Mn, As, Mo, Ba and Ce) and pH-mediated adsorption/desorption reactions (for Ni, Co, Cr, Cu and REEs). The abundance of Fe and Mn oxyhydroxides as a result of redox processes could be driving the geochemical redistribution of metals in the river water. There is a Ce anomaly (Ce/Ce*) at different time periods, both negative and positive, in case of dissolved phase, whereas there is positive anomaly in the particulate and bed sediments. The Ce anomaly correlates with the variations in the dissolved oxygen indicating the redistribution of Ce between particulate and dissolved phase under acidic to neutral pH and lower concentrations of dissolved organic carbon. Unlike other tropical and major world rivers, the effect of organic complexation on metal variability is negligible in the Nethravati River water.


Subject(s)
Rivers/chemistry , Trace Elements/analysis , Water Pollutants, Chemical/analysis , Adsorption , Environmental Monitoring , India , Metals, Heavy/analysis , Oxygen/analysis , Seasons
18.
Q J Nucl Med Mol Imaging ; 57(2): 177-86, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23598684

ABSTRACT

AIM: The aim of this paper was to evaluate the clinical usefulness of [18F]FDG PET/CT for treatment efficacy assessment in patients with severe multisystemic phenotype of sarcoidosis with special emphasis on sinonasal involvement. METHODS: Thirteen patients with biopsy-proven sinonasal sarcoidosis (SNS) who underwent two [18F]FDG-PET/CT were selected. PET/CT results were correlated with nasal endoscopy, biology and conventional imaging techniques (CT, MRI). Four and nine patients underwent first PET/CT before beginning treatment and during CS therapy, respectively. On the other hand, ten and three patients underwent second PET/CT during CS and after treatment withdrawal, respectively. The mean duration of clinical and endoscopic follow-up after the second scintigraphic examination was 51 months. RESULTS: Eleven out of 13 selected patients presented with pathological nasal endoscopy at inclusion. Among them: 1) 5 showed persistent endoscopic abnormalities at follow-up evaluation. Radiological and PET/CT imaging was consistent with these results in 4 and 5 patients, respectively; 2) 2 showed a complete endoscopic, radiologic and PET/CT normalization after CS treatment; 3) 4 showed important alterations of the sinonasal structures preventing a definitive diagnosis by endoscopic and radiologic techniques. PET/CT suggested a residual inflammatory disease in two cases. No scintigraphic abnormalities were detected in the other 2 patients. Scintigraphic results were finally confirmed by a mean follow-up of 51 months. No pathologic sinonasal [18F]FDG uptake was observed in the remaining 2/13 patients who showed doubtful endoscopic and radiologic results during primary evaluation. The stability of endoscopic results without clinical and biological evolution was observed during 39 and 38 months of follow-up after the second PET/CT. CONCLUSION: [18F]FDG PET/CT seems to be a valuable non-invasive imaging technique able to evaluate the response to treatment in aggressive SNS, identifying persistent active disease even in those patients with destructive sinonasal aftereffects and/or with atypical therapeutic evolution. Finally, [18F]FDG PET/CT could be clinically useful to modulate CS treatment eventually integrating immunosuppressive drugs.


Subject(s)
Fluorodeoxyglucose F18 , Multimodal Imaging/methods , Nose Diseases/diagnosis , Positron-Emission Tomography , Sarcoidosis/diagnosis , Tomography, X-Ray Computed , Adult , Aged , Female , Humans , Male , Middle Aged , Radiopharmaceuticals , Reproducibility of Results , Sensitivity and Specificity
19.
Rev Mal Respir ; 28(2): 164-73, 2011 Feb.
Article in French | MEDLINE | ID: mdl-21402231

ABSTRACT

INTRODUCTION: Sarcoidosis is a non-caseating granulomatous disease of unknown origin, principally affecting the respiratory tract. BACKGROUND: Sarcoidosis of the upper respiratory tract (SURT) includes sino-nasal sarcoidosis (SNS) and pharyngo-laryngeal sarcoidosis (PLS). SURT may be isolated or, more often, part of multisystemic sarcoidosis. Its clinical symptomatology is protean and non specific. The natural history, course and prognosis are poorly understood and unpredictable. The treatment has not yet been standardised and the long-term therapeutic results are often disappointing. VIEWPOINT: In this work, we try to make a synthesis of our experience and publications, and the data in the existing international literature, to improve the diagnosis and therapeutic management of SURT. The usefulness of both morphological and functional imaging techniques, in particular 18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET/CT), is evaluated for use in the management of the severe phenotypes of sarcoidosis such as SURT. CONCLUSIONS: Even if guided biopsy remains necessary for confirmation of SURT, medical imaging plays an important role in the management of this disease: CT imaging allows the description of SNS and classification into two stages that correlate well with the severity, reversibility and course of the sino-nasal involvement, 18F-FDG PET/CT, providing a complete morpho-functional mapping of active inflammatory lesions, could be a useful technique in patients with biopsy-proven SURT, for both diagnosis and follow up of medical treatment.


Subject(s)
Laryngeal Diseases/diagnosis , Laryngeal Diseases/therapy , Paranasal Sinus Diseases/diagnosis , Paranasal Sinus Diseases/therapy , Pharyngeal Diseases/diagnosis , Pharyngeal Diseases/therapy , Sarcoidosis/complications , Adult , Aged , Aged, 80 and over , Female , Humans , Laryngeal Diseases/etiology , Male , Middle Aged , Paranasal Sinus Diseases/etiology , Pharyngeal Diseases/etiology
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