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  • 1
    Online Resource
    Online Resource
    Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis
    Oxford University Press (OUP) ; 2013
    In:  European Journal of Endocrinology Vol. 168, No. 4 ( 2013-04), p. 533-541
    Details
    In: European Journal of Endocrinology, Oxford University Press (OUP), Vol. 168, No. 4 ( 2013-04), p. 533-541
    Abstract: Germline mutations in the aryl hydrocarbon receptor interacting protein gene ( AIP ) have been identified in young patients (age ≤30 years old) with sporadic pituitary macroadenomas. Otherwise, there are few data concerning the prevalence of multiple endocrine neoplasia type 1 ( MEN1 ) mutations in such a population. Objective We assessed the prevalence of both AIP and MEN1 genetic abnormalities (mutations and large gene deletions) in young patients (age ≤30 years old) diagnosed with sporadic and isolated macroadenoma, without hypercalcemia and/or MEN1-associated lesions. Design The entire coding sequences of AIP and MEN1 were screened for mutations. In cases of negative sequencing screening, multiplex ligation-dependent probe amplification was performed for the detection of large genetic deletions. Patients and settings One hundred and seventy-four patients from endocrinology departments of 15 French University Hospital Centers were eligible for this study. Results Twenty-one out of 174 (12%) patients had AIP ( n =15, 8.6%) or MEN1 ( n =6, 3.4%) mutations. In pediatric patients (age ≤18 years old), AIP/MEN1 mutation frequency reached nearly 22% ( n =10/46). AIPmut and MEN1mut were identified in 8/79 (10.1%) and 1/79 (1.2%) somatotropinoma patients respectively; they each accounted for 4/74 (5.4%) prolactinoma (PRL) patients with mutations. Half of those patients ( n =3/6) with gigantism displayed mutations in AIP . Interestingly, 4/12 (33%) patients with non-secreting adenomas bore either AIP or MEN1 mutations, whereas none of the eight corticotroph adenomas or the single thyrotropinoma case had mutations. No large gene deletions were observed in sequencing-negative patients. Conclusion Mutations in MEN1 can be of significance in young patients with sporadic isolated pituitary macroadenomas, particularly PRL, and together with AIP , we suggest genetic analysis of MEN1 in such a population.
    Type of Medium: Online Resource
    ISSN: 0804-4643 , 1479-683X
    URL: Article
    DOI: 10.1530/EJE-12-0763
    RVK:
    WA 15000
    Language: Unknown
    Publisher: Oxford University Press (OUP)
    Publication Date: 2013
    detail.hit.zdb_id: 1485160-X
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  • 2
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    Usefulness of adrenal scintigraphy in the follow-up of adrenocortical incidentalomas: a prospective multicenter study
    Oxford University Press (OUP) ; 2009
    In:  European Journal of Endocrinology Vol. 160, No. 2 ( 2009-02), p. 257-264
    Details
    In: European Journal of Endocrinology, Oxford University Press (OUP), Vol. 160, No. 2 ( 2009-02), p. 257-264
    Abstract: Prognostic factors for progression of benign adrenocortical adenomas (AI) remain poorly known. We assessed the usefulness of 131 I-6-β-iodomethylnorcholesterol scintigraphy (IMS) to predict the occurrence of adrenal hyperfunction or mass enlargement. Design Fifty-one consecutive inpatients with unilateral AI and normal 24-h urinary free cortisol (UFC) were enrolled in a multicenter observational prospective study to investigate the relationship between the scintigraphic pattern and the progression of biological abnormalities of the hypothalamo-pituitary–adrenal axis or tumor size. Results Biochemically defined ‘subclinical’ Cushing's syndrome (SCS) was found at baseline in 47% of patients. Unilateral uptake (UU) was significantly associated with SCS ( P 〈 0.05). During the follow-up (4.3±1.6-year): 53% of patients showed unchanged hormonal evaluation, 29% displayed intermittent SCS and 18% showed definitive hormonal progression of SCS but without overt biochemical hypercortisolism. UU was associated with persistence of SCS and hormonal progression ( P 〈 0.01). In multivariate analysis, UU and impaired 1 mg dexamethasone suppression were independently associated with hormonal progression. Three patients with UU developed clinical CS despite persistently normal UFC. Tumor size increased in 10% patients and was not associated with any scintigraphic pattern. Conclusion Evolution of SCS toward overt biochemical CS in patients with AI is a rare event during a 4-year follow-up. UU is predictive for the occurrence of SCS, its persistence and progression within the spectrum of SCS. Further studies aiming to establish the clinical consequences of SCS are needed to recommend IMS as a complementary evaluation in patients with AI and biochemical SCS.
    Type of Medium: Online Resource
    ISSN: 0804-4643 , 1479-683X
    URL: Article
    DOI: 10.1530/EJE-08-0299
    RVK:
    WA 15000
    Language: Unknown
    Publisher: Oxford University Press (OUP)
    Publication Date: 2009
    detail.hit.zdb_id: 1485160-X
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  • 3
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    Online Resource
    Angiotensin I–Converting Enzyme in a Suprasellar Germinoma
    Oxford University Press (OUP) ; 1987
    In:  American Journal of Clinical Pathology Vol. 87, No. 2 ( 1987-02-01), p. 281-284
    Details
    In: American Journal of Clinical Pathology, Oxford University Press (OUP), Vol. 87, No. 2 ( 1987-02-01), p. 281-284
    Type of Medium: Online Resource
    ISSN: 1943-7722 , 0002-9173
    URL: Article
    DOI: 10.1093/ajcp/87.2.281
    RVK:
    YV 2000
    RVK:
    XA 18700
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 1987
    detail.hit.zdb_id: 2039921-2
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  • 4
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    Tyrosine kinase inhibitors and modifications of thyroid function tests: a review
    Oxford University Press (OUP) ; 2009
    In:  European Journal of Endocrinology Vol. 160, No. 3 ( 2009-03), p. 331-336
    Details
    In: European Journal of Endocrinology, Oxford University Press (OUP), Vol. 160, No. 3 ( 2009-03), p. 331-336
    Abstract: Tyrosine kinase inhibitors (TKI) belong to new molecular multi-targeted therapies that are approved for the treatment of haematological and solid tumours. They interact with a large variety of protein tyrosine kinases involved in oncogenesis. In 2005, the first case of hypothyroidism was described and since then, some data have been published and have confirmed that TKI can affect the thyroid function tests (TFT). This review analyses the present clinical and fundamental findings about the effects of TKI on the thyroid function. Various hypotheses have been proposed to explain the effect of TKI on the thyroid function but those are mainly based on clinical observations. Moreover, it appears that TKI could alter the thyroid hormone regulation by mechanisms that are specific to each molecule. The present propositions for the management of TKI-induced hypothyroidism suggest that we assess the TFT of the patients regularly before and during the treatment by TKI. Thus, a better approach of patients with TKI-induced hypothyroidism could improve their quality of life.
    Type of Medium: Online Resource
    ISSN: 0804-4643 , 1479-683X
    URL: Article
    DOI: 10.1530/EJE-08-0648
    RVK:
    WA 15000
    Language: Unknown
    Publisher: Oxford University Press (OUP)
    Publication Date: 2009
    detail.hit.zdb_id: 1485160-X
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  • 5
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    Efficacy of everolimus in patients with metastatic insulinoma and refractory hypoglycemia
    Oxford University Press (OUP) ; 2013
    In:  European Journal of Endocrinology Vol. 168, No. 5 ( 2013-05), p. 665-674
    Details
    In: European Journal of Endocrinology, Oxford University Press (OUP), Vol. 168, No. 5 ( 2013-05), p. 665-674
    Abstract: Refractory hypoglycemia in patients with metastatic insulinoma is an important cause of morbidity and mortality. Everolimus could be a new therapeutic option. Methods Within the French Group, we conducted a retrospective, multicentric study of endocrine tumors to evaluate the time to the first recurrence of symptomatic hypoglycemia, after everolimus initiation, in patients with metastatic insulinoma and refractory hypoglycemia. Ongoing hyperglycemic medical options, tumor response, and safety information were recorded. Results Twelve patients with metastatic insulinoma and refractory hypoglycemia who were treated with everolimus between May 2007 and June 2011 were reviewed. Everolimus (starting dose, 10 mg/day, except in one patient, 5 mg/day) was given after a median of four previous therapeutic lines. Medication aimed at normalizing blood glucose levels in 11 patients. After a median duration of 6.5 months (range 1–35+ months), median time to the first recurrence of symptomatic hypoglycemia was 6.5 months (range 0 to 35+ months). Three patients discontinued everolimus because of cardiac and/or pulmonary adverse events at 1, 1.5, and 7 months after initiation, which led to two deaths. Three patients discontinued everolimus because of tumor progression at 2, 3, and 10 months after initiation, without recurrence of hypoglycemia. Conclusion Everolimus appears to be a new effective treatment for patients with metastatic insulinoma and refractory hypoglycemia. Tolerance should be carefully monitored.
    Type of Medium: Online Resource
    ISSN: 0804-4643 , 1479-683X
    URL: Article
    DOI: 10.1530/EJE-12-1101
    RVK:
    WA 15000
    Language: Unknown
    Publisher: Oxford University Press (OUP)
    Publication Date: 2013
    detail.hit.zdb_id: 1485160-X
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  • 6
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    Diabetes in acromegaly, prevalence, risk factors, and evolution: data from the French Acromegaly Registry
    Oxford University Press (OUP) ; 2011
    In:  European Journal of Endocrinology Vol. 164, No. 6 ( 2011-06), p. 877-884
    Details
    In: European Journal of Endocrinology, Oxford University Press (OUP), Vol. 164, No. 6 ( 2011-06), p. 877-884
    Abstract: The French Acromegaly Registry records data of acromegalic patients' since 1992 in French, Belgian (Liège), and Swiss (Lausanne) centers. We studied the prevalence of diabetes in this population looking for risk factors. Patients from one of the centers (Reims) were then analyzed more thoroughly. Methods This study has been conducted on all the patients recorded from 1999 until 2004 (519 patients). Evolution of cohorts' was reassessed in 2009. Of the different variables recorded in the registry: age, sex, body mass index (BMI), duration of acromegaly, GH, IGF1 and prolactin levels, pituitary tumor size, hormonal deficiencies, presence, duration and treatment of diabetes, hypertension, and rheumatological disease were analyzed. Results The prevalence of diabetes in the registry was 22.3%. Diabetic patients were older and had a higher BMI. Compared with the data of the French Social Security, acromegalic patients showed a more precocious apparition of diabetes and prevalence was higher in each age group. Compared with non-diabetic acromegalic subjects, diabetic patients had a more prolonged evolution of acromegaly before diagnosis. The levels of GH and IGF1 were not significantly different between the two groups. Only hypertension was significantly more frequent in diabetic patients. Conclusions In our population, the prevalence of diabetes was estimated to be 22.3%. The GH and IGF1 levels did not appear as predictive factors for the presence of diabetes. On the contrary, age, BMI, and hypertension were significant risk factors as in the general population of type 2 diabetics.
    Type of Medium: Online Resource
    ISSN: 0804-4643 , 1479-683X
    URL: Article
    DOI: 10.1530/EJE-10-1050
    RVK:
    WA 15000
    Language: Unknown
    Publisher: Oxford University Press (OUP)
    Publication Date: 2011
    detail.hit.zdb_id: 1485160-X
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  • 7
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    Online Resource
    Glycosuria amount in response to hyperglycaemia and risk for diabetic kidney disease and related events in Type 1 diabetic patients
    Oxford University Press (OUP) ; 2019
    In:  Nephrology Dialysis Transplantation Vol. 34, No. 10 ( 2019-10-01), p. 1731-1738
    Details
    In: Nephrology Dialysis Transplantation, Oxford University Press (OUP), Vol. 34, No. 10 ( 2019-10-01), p. 1731-1738
    Abstract: Hyperglycaemia impairs tubulo-glomerular feedback. We tested whether variable tubulo-glomerular feedback during hyperglycaemia contributes to renal risk heterogeneity seen in Type 1 diabetes. Methods During the period 1990–92, we studied the tubulo-glomerular feedback in Type 1 diabetic patients at high or low renal risk [21 of 54 with glomerular hyperfiltration and/or microalbuminuria against 11 of 55 with normal glomerular filtration rate (GFR) and urinary albumin despite uncontrolled diabetes]. The GFR, effective renal plasma flow, mean arterial pressure and fractional reabsorptions of glucose, osmols, sodium and lithium were measured sequentially during normo- and hyperglycaemia. All patients were followed up until 2016 for incident proteinuria, estimated GFR  & lt;60 mL/min/1.73 m2, doubling of serum creatinine, end-stage renal disease or all-cause death. Results Glycaemia increased from 6.1 ± 1.3 to 15.1 ± 1.9 mmol/L in both high-risk and low-risk patients. Glycosuria was lower in the high- versus low-risk patients: 0.34 ± 0.25 versus 0.64 ± 0.44 mmol/min (P = 0.03). Both groups displayed similar kidney function during normoglycaemia. Hyperglycaemia increased more importantly GFR and fractional reabsorptions, and pre-glomerular vasodilatation in the high- than in the low-risk patients (all P  & lt; 0.05). Over 21 years, 31.5% high- versus 12.7% low-risk patients developed endpoints (adjusted P = 0.006). In a multi-adjusted survival analysis of patients having undergone renal tests, each 0.10 mmol/min glycosuria during hyperglycaemia reduced the outcome risk by 0.72 (95% confidence interval 0.49–0.97, P = 0.03). Conclusions Reduced tubulo-glomerular feedback and glycosuria during hyperglycaemia indicate high renal risk for Type 1 diabetic patients. Inter-individual variability in tubulo-glomerular feedback activity determines renal risk in Type 1 diabetes.
    Type of Medium: Online Resource
    ISSN: 0931-0509 , 1460-2385
    URL: Article
    DOI: 10.1093/ndt/gfy197
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2019
    detail.hit.zdb_id: 1465709-0
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  • 8
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    Online Resource
    Usefulness of repeated fine-needle cytology in the follow-up of non-operated thyroid nodules
    Oxford University Press (OUP) ; 2007
    In:  European Journal of Endocrinology Vol. 156, No. 3 ( 2007-03), p. 303-308
    Details
    In: European Journal of Endocrinology, Oxford University Press (OUP), Vol. 156, No. 3 ( 2007-03), p. 303-308
    Abstract: Objective : The usefulness of repeated fine-needle cytology (FNC) in thyroid nodules with benign cytology remains unknown. We analyzed the relevance of repeated FNC to detect suspicious or malignant (S/M) cytologies and carcinomas. Design : A retrospective study (1983–2004) was conducted in our endocrinology department. Methods : We reviewed the reports of 895 adequate FNC performed in 298 patients (298 nodules) during a mean follow-up of 5 years. We compared the nodules with at least one suspicious or malignant FNC (S/M nodules) with nodules with repeatedly benign (RB) FNC (RB nodules). Results : Among the nodules with initial benign cytology, we found 35 nodules with one or more later suspicious or malignant results. The interval between the first FNC and the first S/M FNC was 2.9 years. The probability for a nodule to have a repeated benign FNC decreases with time and with the number of FNC. We did not find any clinical or ultrasonographic characteristics related to an S/M cytology. Seven cancers were detected by the second or the third FNC with S/M results. The proportion of cancers among S/M nodules was similar when S/M cytology appears during the first, the second, or the third FNC. Conclusions : We suggest to repeat FNC up to three adequate samples in the follow-up of thyroid nodules so as not to miss the presence of malignant neoplasm.
    Type of Medium: Online Resource
    ISSN: 0804-4643 , 1479-683X
    URL: Article
    DOI: 10.1530/EJE-06-0616
    RVK:
    WA 15000
    Language: Unknown
    Publisher: Oxford University Press (OUP)
    Publication Date: 2007
    detail.hit.zdb_id: 1485160-X
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  • 9
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    Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d’étude des Tumeurs Endocrines (GTE) cohort study
    Oxford University Press (OUP) ; 2013
    In:  Human Molecular Genetics Vol. 22, No. 10 ( 2013-5-15), p. 1940-1948
    Details
    In: Human Molecular Genetics, Oxford University Press (OUP), Vol. 22, No. 10 ( 2013-5-15), p. 1940-1948
    Type of Medium: Online Resource
    ISSN: 1460-2083 , 0964-6906
    URL: Article
    DOI: 10.1093/hmg/ddt039
    RVK:
    XA 10000
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2013
    detail.hit.zdb_id: 1474816-2
    SSG: 12
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  • 10
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    Identification and characterization of unknown disturbances in a structured population using high-throughput phenotyping data and measurement of robustness: application to growing pigs
    Oxford University Press (OUP) ; 2024
    In:  Journal of Animal Science
    Details
    In: Journal of Animal Science, Oxford University Press (OUP)
    Abstract: Improving the robustness of animals has become a priority in breeding due to climate change, new societal demands and the agroecological transition. Components of animal robustness can be extracted from the analysis of the adaptive response of an animal to disturbance using longitudinal data. Nonetheless, this response is a function of animal robustness as well as of disturbance characteristics (intensity and duration). To correctly assess an animal's robustness potential, it is therefore useful to know the characteristics of the disturbances it faces. The UpDown method, which detects and characterizes unknown disturbances at different levels of organization of the population (e.g., individual, pen, batch disturbances), has been proposed for this purpose. Furthermore, using the outputs of the method, it is possible to extract proxies of the robustness of animals. In this context, the objective of the study was to evaluate the performances of the UpDown method to detect and characterize disturbances and to quantify the robustness of animals in a genetic framework using different sets of simulation, and to apply this method to real pig longitudinal data recorded during the fattening period (body weight, cumulative feed intake and feeding rate). Based on the simulations, the specificity of the UpDown method was high ( & gt; 0.95). Its sensitivity increased with the level of organization exposed (from 0.23 to 0.32 for individual disturbances, from 0.45 to 0.59 for pen disturbances, and from 0.77 to 0.88 for batch disturbances). The UpDown method also showed a good ability to characterize detected disturbances. The average time interval between the estimated and true start date or duration of the disturbance was lower than three days. The correlation between the true and estimated intensity of the disturbance increased with the hierarchical level of organization (on average, 0.41, 0.78 and 0.83 for individual, pen and batch disturbance, respectively). The accuracy of the estimated breeding values of the proxies for robustness extracted from the analysis of individual trajectories over time were moderate (lower than 0.33). Applied to real data, the UpDown method detected different disturbances depending on the phenotype analyzed. The heritability of the proxies of robustness were low to moderate (ranging from 0.11 to 0.20).
    Type of Medium: Online Resource
    ISSN: 0021-8812 , 1525-3163
    URL: Article
    DOI: 10.1093/jas/skae059
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2024
    detail.hit.zdb_id: 1490550-4
    SSG: 12
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