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Article ; Online: Comparing fluorodeoxyglucose positron emission tomography with computed tomography in staging for nodal and distant metastasis in urothelial/bladder cancer.

Al-Zubaidi, Mohammed / Ong, Katherine / Viswambaram, Pravin / Bangash, Haider / Boardman, Glenn / McCombie, Steve P / Oey, Oliver / Swarbrick, Nicole / Redfern, Andrew / Ong, Jeremy / Gauci, Richard / Low, Ronny / Hayne, Dickon

BJUI compass

2024 Volume 5, Issue 4, Page(s) 473–479

Abstract: Objectives: We aim to assess the clinical value of : Methods: A retrospective review of 75 patients with invasive bladder cancer (≥T1) who were staged with both CT and : Results: Sensitivity, specificity, positive predictive values (PPV) and ... ...

Abstract	Objectives: We aim to assess the clinical value of Methods: A retrospective review of 75 patients with invasive bladder cancer (≥T1) who were staged with both CT and Results: Sensitivity, specificity, positive predictive values (PPV) and negative predictive value (NPV) of CT versus FDG-PET for detecting metastasis, in patients who underwent pelvic LN dissection or biopsy of lesions suspicious of metastases, were 46.6% (95% CI: 21%-70%) versus 60% (95% CI: 32%-84%), 100% (95% CI: 91%-100%) versus 83.78% (95% CI: 69%-94%), 100% (95% CI: 63%-100%) versus 60% (95% CI: 32%-84%), and 82.2% (95% CI: 68%-92%) versus 83.78% (95% CI: 69%-94%), respectively. 7/75 (9.3%) patients avoided cystectomy due to Conclusion: FDG-PET may be more sensitive than CT for metastases in the staging of bladder cancer, which resulted in significant avoidance of aggressive local management in cases with occult metastasis.
Language	English
Publishing date	2024-02-20
Publishing country	United States
Document type	Journal Article
ISSN	2688-4526
ISSN (online)	2688-4526
DOI	10.1002/bco2.304
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Article ; Online: 89

Al-Zubaidi, Mohammed / Viswambaram, Pravin / McCombie, Steve / Liow, Elizabeth / Lenzo, Nat / Ferguson, Tom / Redfern, Andrew D / Gauci, Richard / Hayne, Dickon

BMJ open

2022 Volume 12, Issue 4, Page(s) e060478

Abstract: Introduction: Bladder cancer is a lethal disease with a rising incidence on a background of limited conventional imaging modalities for staging (either CT of the chest-abdomen-pelvis or 18F-fluorodeoxyglucose positron emitting tomography (FDG-PET/CT)). ... ...

Abstract	Introduction: Bladder cancer is a lethal disease with a rising incidence on a background of limited conventional imaging modalities for staging (either CT of the chest-abdomen-pelvis or 18F-fluorodeoxyglucose positron emitting tomography (FDG-PET/CT)). CT is known to have relatively low sensitivity for detecting low volume metastatic disease, an important goal when considering surgical interventions entailing significant potential morbidity. FDG is also limited, being predominantly renally excreted and, therefore, producing intense non-specific activity in the urinary tract, which limits its utility to detect bladder and upper tract lesions, or nodal metastases in close proximity to the urinary tract. Methods and analysis: 89 Ethics and dissemination: Ethics approval has been obtained from the South Metropolitan Health Service Human Research Ethics Committee (RGS0000003940). Eligible patients will only be enrolled after providing written informed consent. Patients will be given a full explanation, in lay terms, of the aims of the study and potential risks including as a written patient information sheet. Trial registration numbers: ACTRN12621000411842, NCT05046665.
MeSH term(s)	Antibodies, Monoclonal ; Carcinoma, Transitional Cell/pathology ; Clinical Trials, Phase I as Topic ; Female ; Fluorodeoxyglucose F18 ; Humans ; Male ; Neoplasm Staging ; Positron Emission Tomography Computed Tomography/methods ; Positron-Emission Tomography ; Radiopharmaceuticals ; Sensitivity and Specificity ; Urinary Bladder Neoplasms/diagnostic imaging ; Urinary Bladder Neoplasms/pathology ; Zirconium
Chemical Substances	Antibodies, Monoclonal ; G250 monoclonal antibody ; Radiopharmaceuticals ; Fluorodeoxyglucose F18 (0Z5B2CJX4D) ; Zirconium (C6V6S92N3C)
Language	English
Publishing date	2022-04-15
Publishing country	England
Document type	Clinical Trial Protocol ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2599832-8
ISSN	2044-6055 ; 2044-6055
ISSN (online)	2044-6055
ISSN	2044-6055
DOI	10.1136/bmjopen-2021-060478
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Article ; Online: Pituitary function following peptide receptor radionuclide therapy for neuroendocrine tumours.

Elston, Marianne S / Love, Amanda / Kevat, Dev / Carroll, Richard / Siow, Zhen Rong / Pattison, Sharon / Boyle, Veronica / Segelov, Eva / Strickland, Andrew H / Wyld, David / Gauci, Richard / Kennedy, Kim / Ransom, David

Cancer medicine

2021 Volume 10, Issue 23, Page(s) 8405–8411

Abstract: Peptide receptor radionuclide therapy (PRRT) is an increasingly used treatment for unresectable neuroendocrine tumours (NETs) that express somatostatin receptors. Normal pituitary tissue expresses somatostatin receptors so patients receiving PRRT may be ... ...

Abstract	Peptide receptor radionuclide therapy (PRRT) is an increasingly used treatment for unresectable neuroendocrine tumours (NETs) that express somatostatin receptors. Normal pituitary tissue expresses somatostatin receptors so patients receiving PRRT may be at risk of developing hypopituitarism. The aim was to assess the prevalence of clinically significant hypopituitarism a minimum of 2 years following radioisotope therapy for metastatic NET. This was a multicentre study (Australia and New Zealand). Sixty-six patients with unresectable NETs were included-34 had received PRRT and 32 comparison patients. Median follow-up after PRRT was 68 months. Male hypogonadism was the most common hormonal abnormality (16 of 38 men [42%]) from the total cohort. Of these, seven men had primary hypogonadism (five from PRRT group) and nine had secondary hypogonadism (six in PRRT group). There was no difference in either male hypogonadism or other hormonal dysfunction between patients who had received PRRT and those that had not. Patients who have received PRRT out to 68 months following treatment do not show concerning hypopituitarism although there may be the suggestion of growth hormone deficiency developing. However, hypogonadism is common in men with NETs so the gonadal axis should be assessed in men with suggestive symptoms as the treatment of testosterone deficiency may improve the quality of life.
MeSH term(s)	Aged ; Australia ; Female ; Humans ; Hypopituitarism/etiology ; Male ; Middle Aged ; Neuroendocrine Tumors/metabolism ; Neuroendocrine Tumors/pathology ; Neuroendocrine Tumors/radiotherapy ; New Zealand ; Pituitary Function Tests ; Quality of Life ; Radiotherapy Dosage ; Receptors, Peptide/metabolism
Chemical Substances	Receptors, Peptide
Language	English
Publishing date	2021-10-26
Publishing country	United States
Document type	Journal Article ; Multicenter Study
ZDB-ID	2659751-2
ISSN	2045-7634 ; 2045-7634
ISSN (online)	2045-7634
ISSN	2045-7634
DOI	10.1002/cam4.4345
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Article ; Online: Anemia complicating type 2 diabetes: Prevalence, risk factors and prognosis.

Gauci, Richard / Hunter, Michael / Bruce, David G / Davis, Wendy A / Davis, Timothy M E

Journal of diabetes and its complications

2017 Volume 31, Issue 7, Page(s) 1169–1174

Abstract: Aims: To determine the prevalence, risk factors and prognosis of anemia in representative community-based patients with type 2 diabetes.: Methods: Data from the Fremantle Diabetes Study Phase II (FDS2; n=1551, mean age 65.7years, 51.9% males) and ... ...

Abstract	Aims: To determine the prevalence, risk factors and prognosis of anemia in representative community-based patients with type 2 diabetes. Methods: Data from the Fremantle Diabetes Study Phase II (FDS2; n=1551, mean age 65.7years, 51.9% males) and Busselton Diabetes Study (BDS; n=186, mean age 70.2years, 50.0% males) cohorts, and from 186 matched BDS participants without diabetes, were analyzed. The prevalence of anemia (hemoglobin ≤130g/L males, ≤120g/L females) was determined in each sample. In FDS2, associates of anemia were assessed using multiple logistic regression and Cox proportional hazards modeling identified predictors of death during 4.3±1.2years post-recruitment. Results: The prevalence of anemia at baseline was 11.5% in FDS2 participants, 17.8% in BDS type 2 patients and 5.4% in BDS participants without diabetes. In FDS2, 163 of 178 patients with anemia (91.6%) had at least one other risk factor (serum vitamin B Conclusions: Type 2 diabetes at least doubles the risk of anemia but other mostly modifiable risk factors are usually present. Anemia is associated with an increased risk of death after adjustment for other predictors.
Language	English
Publishing date	2017-07
Publishing country	United States
Document type	Journal Article
ZDB-ID	1105840-7
ISSN	1873-460X ; 1056-8727
ISSN (online)	1873-460X
ISSN	1056-8727
DOI	10.1016/j.jdiacomp.2017.04.002
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Article: A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes.

Bouron-Dal Soglio, Dorothée / de Kock, Leanne / Gauci, Richard / Sabbaghian, Nelly / Thomas, Elizabeth / Atkinson, Helen C / Pachter, Nicholas / Ryan, Simon / Walsh, John P / Kumarasinghe, M Priyanthi / Carpenter, Karen / Aydoğan, Ayça / Stewart, Colin J R / Foulkes, William D / Choong, Catherine S

European thyroid journal

2017 Volume 7, Issue 1, Page(s) 44–50

Abstract: Background: Hereditary tumour predisposition syndromes may increase the risk for development of thyroid nodules at a young age. We present the case of an adolescent female with Cowden syndrome who had some atypical phenotypic features which overlapped ... ...

Abstract	Background: Hereditary tumour predisposition syndromes may increase the risk for development of thyroid nodules at a young age. We present the case of an adolescent female with Cowden syndrome who had some atypical phenotypic features which overlapped with the DICER1 syndrome. Material and methods: A 17-year-old female presented with a 3-month history of progressive right neck swelling. Fine needle cytology of the thyroid revealed a follicular neoplasm with features suggestive of follicular variant of papillary thyroid carcinoma and she underwent a hemithyroidectomy. Enlarging nodules in the remaining thyroid led to a completion thyroidectomy at 19 years of age. The patient's past medical history included an ovarian mixed malignant germ cell tumour, pulmonary nodules and cysts, renal cysts, mucocutaneous lesions, an arachnoid cyst, and a fibrous breast lesion. Macrocephaly was noted on physical examination. Results: Based on the patient's complex phenotype and young age, a hereditary predisposition syndrome was suspected and genetic testing of Conclusions: Genetic testing was crucial in elucidating this patient's predisposition to the early development of neoplastic and non-neoplastic conditions. Our report also highlights the phenotypic overlap between the Cowden and DICER1 syndromes and illustrates the importance of recognising the variable phenotypic features of hereditary syndromes in order to enable timely implementation of appropriate care.
Language	English
Publishing date	2017-11-21
Publishing country	England
Document type	Journal Article
ZDB-ID	2659767-6
ISSN	2235-0802 ; 2235-0640
ISSN (online)	2235-0802
ISSN	2235-0640
DOI	10.1159/000481620
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Article ; Online: Higher serum undercarboxylated osteocalcin and other bone turnover markers are associated with reduced diabetes risk and lower estradiol concentrations in older men.

Yeap, Bu B / Alfonso, Helman / Chubb, S A Paul / Gauci, Richard / Byrnes, Elizabeth / Beilby, John P / Ebeling, Peter R / Handelsman, David J / Allan, Carolyn A / Grossmann, Mathis / Norman, Paul E / Flicker, Leon

The Journal of clinical endocrinology and metabolism

2015 Volume 100, Issue 1, Page(s) 63–71

Abstract: Context: In mice, undercarboxylated osteocalcin (ucOC) modulates insulin secretion and sensitivity and increases testosterone (T) secretion from Leydig cells, but human data are lacking. We hypothesized that ucOC is associated with diabetes risk and ... ...

Abstract	Context: In mice, undercarboxylated osteocalcin (ucOC) modulates insulin secretion and sensitivity and increases testosterone (T) secretion from Leydig cells, but human data are lacking. We hypothesized that ucOC is associated with diabetes risk and modulates sex hormone concentrations in older men, distinct from other bone turnover markers. Participants: PARTICIPANTS were community-dwelling men aged 70 to 89 years resident in Perth, Western Australia. Main outcome measures: Serum total osteocalcin (TOC), N-terminal propeptide of type I collagen (P1NP), and collagen type I C-terminal cross-linked telopeptide (CTX) were measured by immunoassay, and ucOC by hydroxyapatite binding. Plasma total T, DHT, and estradiol (E2) were assayed by mass spectrometry. Results: Excluding men with osteoporosis or conditions affecting sex hormones or on bisphosphonates, glucocorticoids, or warfarin, 2966 men were included. In multivariate analyses, higher ucOC was associated with reduced diabetes risk (odds ratio [OR] per 1 SD increase = 0.55, P < .001). Similar results were seen for TOC (OR = 0.60, P < .001), P1NP (OR = 0.64, P < .001), and CTX (OR = 0.60, P < .001) but not ucOC/TOC. When all 4 markers were included in the fully adjusted model, higher ucOC (OR = 0.56, P < .001) and CTX (OR = 0.76, P = .008) remained associated with reduced diabetes risk. E2 was inversely associated with ucOC (coefficient -0.04, P = .031), TOC (-0.05, P = .001) and CTX (-0.04, P = .016); and positively with ucOC/TOC (0.05, P = .002). DHT was inversely associated with ucOC/TOC (-0.04, P = .040). T was not associated with bone turnover. Conclusions: Higher bone remodeling rates are associated with reduced diabetes risk in older men. Higher ucOC is both a marker of bone remodeling and an independent predictor of reduced diabetes risk. E2 is inversely associated with bone turnover markers. We found no evidence ucOC modulates circulating T in older men.
MeSH term(s)	Aged ; Aged, 80 and over ; Biomarkers/blood ; Bone Density ; Collagen Type I/blood ; Diabetes Mellitus, Type 1/blood ; Diabetes Mellitus, Type 2/blood ; Dihydrotestosterone/blood ; Estradiol/blood ; Humans ; Male ; Osteocalcin/blood ; Peptide Fragments/blood ; Peptides/blood ; Procollagen/blood ; Risk Factors ; Testosterone/blood
Chemical Substances	Biomarkers ; Collagen Type I ; Peptide Fragments ; Peptides ; Procollagen ; collagen type I trimeric cross-linked peptide ; procollagen Type I N-terminal peptide ; Dihydrotestosterone (08J2K08A3Y) ; Osteocalcin (104982-03-8) ; Testosterone (3XMK78S47O) ; Estradiol (4TI98Z838E)
Language	English
Publishing date	2015-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/jc.2014-3019
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Article: A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes

Bouron-Dal Soglio, Dorothée / de Kock, Leanne / Gauci, Richard / Sabbaghian, Nelly / Thomas, Elizabeth / Atkinson, Helen C. / Pachter, Nicholas / Ryan, Simon / Walsh, John P. / Kumarasinghe, M. Priyanthi / Carpenter, Karen / Aydoğan, Ayça / Stewart, Colin J.R. / Foulkes, William D. / Choong, Catherine S.

European Thyroid Journal

2017 Volume 7, Issue 1, Page(s) 44–50

Institution	Department of Pathology, CHU Sainte-Justine, Montreal, Québec, Canada The Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Québec, Canada Department of Human Genetics, McGill University, Montreal, Québec, Canada Nuclear Medicine, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia Department of Endocrinology and Diabetes, Princess Margaret Hospital for Children, Subiaco, Washington, Australia Faculty of Health and Medical Sciences, School<bold></bold> of Medicine, The University of Western Australia, Crawley, Washington, Australia King Edward Memorial Hospital, Perth, Washington, Australia Department of General Surgery, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia PathWest, QEII Medical Centre, Perth, Washington, Australia Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Washington, Australia Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey Department of Medical Genetics,<bold></bold> Research Institute of the McGill University Health Centre, Montreal, Québec, Canada
Abstract	Background: Hereditary tumour predisposition syndromes may increase the risk for development of thyroid nodules at a young age. We present the case of an adolescent female with Cowden syndrome who had some atypical phenotypic features which overlapped with the DICER1 syndrome. Material and Methods: A 17-year-old female presented with a 3-month history of progressive right neck swelling. Fine needle cytology of the thyroid revealed a follicular neoplasm with features suggestive of follicular variant of papillary thyroid carcinoma and she underwent a hemithyroidectomy. Enlarging nodules in the remaining thyroid led to a completion thyroidectomy at 19 years of age. The patient’s past medical history included an ovarian mixed malignant germ cell tumour, pulmonary nodules and cysts, renal cysts, mucocutaneous lesions, an arachnoid cyst, and a fibrous breast lesion. Macrocephaly was noted on physical examination. Results: Based on the patient’s complex phenotype and young age, a hereditary predisposition syndrome was suspected and genetic testing of PTEN and DICER1 was undertaken. A heterozygous truncating germ-line PTEN mutation was identified, which combined with clinical findings, met criteria for the diagnosis of Cowden syndrome. Additional loss of heterozygosity of the wild-type PTEN allele was detected in the right thyroid lesion and ovarian tumour. No DICER1 mutations were identified. Conclusions: Genetic testing was crucial in elucidating this patient’s predisposition to the early development of neoplastic and non-neoplastic conditions. Our report also highlights the phenotypic overlap between the Cowden and DICER1 syndromes and illustrates the importance of recognising the variable phenotypic features of hereditary syndromes in order to enable timely implementation of appropriate care.
Keywords	Thyroid nodules ; PTEN ; DICER1 syndrome ; Mutations ; Cowden syndrome ; Hereditary
Language	English
Publishing date	2017-11-21
Publisher	S. Karger AG
Publishing place	Basel, Switzerland
Document type	Article
Note	Clinical Thyroidology / Original Paper
ZDB-ID	2659767-6
ISSN	2235-0802 ; 2235-0640
ISSN (online)	2235-0802
ISSN	2235-0640
DOI	10.1159/000481620
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Article: A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes

European Thyroid Journal

2017 Volume 7, Issue 1, Page(s) 44–50

Institution	Department of Pathology, CHU Sainte-Justine, Montreal, Québec, Canada The Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Québec, Canada Department of Human Genetics, McGill University, Montreal, Québec, Canada Nuclear Medicine, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia Department of Endocrinology and Diabetes, Princess Margaret Hospital for Children, Subiaco, Washington, Australia Faculty of Health and Medical Sciences, School<bold></bold> of Medicine, The University of Western Australia, Crawley, Washington, Australia King Edward Memorial Hospital, Perth, Washington, Australia Department of General Surgery, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia PathWest, QEII Medical Centre, Perth, Washington, Australia Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Washington, Australia Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey Department of Medical Genetics,<bold></bold> Research Institute of the McGill University Health Centre, Montreal, Québec, Canada
Abstract	Background: Hereditary tumour predisposition syndromes may increase the risk for development of thyroid nodules at a young age. We present the case of an adolescent female with Cowden syndrome who had some atypical phenotypic features which overlapped with the DICER1 syndrome. Material and Methods: A 17-year-old female presented with a 3-month history of progressive right neck swelling. Fine needle cytology of the thyroid revealed a follicular neoplasm with features suggestive of follicular variant of papillary thyroid carcinoma and she underwent a hemithyroidectomy. Enlarging nodules in the remaining thyroid led to a completion thyroidectomy at 19 years of age. The patient’s past medical history included an ovarian mixed malignant germ cell tumour, pulmonary nodules and cysts, renal cysts, mucocutaneous lesions, an arachnoid cyst, and a fibrous breast lesion. Macrocephaly was noted on physical examination. Results: Based on the patient’s complex phenotype and young age, a hereditary predisposition syndrome was suspected and genetic testing of PTEN and DICER1 was undertaken. A heterozygous truncating germ-line PTEN mutation was identified, which combined with clinical findings, met criteria for the diagnosis of Cowden syndrome. Additional loss of heterozygosity of the wild-type PTEN allele was detected in the right thyroid lesion and ovarian tumour. No DICER1 mutations were identified. Conclusions: Genetic testing was crucial in elucidating this patient’s predisposition to the early development of neoplastic and non-neoplastic conditions. Our report also highlights the phenotypic overlap between the Cowden and DICER1 syndromes and illustrates the importance of recognising the variable phenotypic features of hereditary syndromes in order to enable timely implementation of appropriate care.
Keywords	Thyroid nodules ; PTEN ; DICER1 syndrome ; Mutations ; Cowden syndrome ; Hereditary
Language	English
Publishing date	2017-11-21
Publisher	S. Karger AG
Publishing place	Basel, Switzerland
Document type	Article
Note	Clinical Thyroidology / Original Paper
ZDB-ID	2659767-6
ISSN	2235-0802 ; 2235-0640
ISSN (online)	2235-0802
ISSN	2235-0640
DOI	10.1159/000481620
Database	Karger publisher's database

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