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Article ; Online: Validation of a Low-protein Semi-Quantitative Food Frequency Questionnaire.

Evans, Sharon / Ashmore, Catherine / Daly, Anne / Jackson, Richard / Pinto, Alex / MacDonald, Anita

2022 Volume 14, Issue 8

Abstract: Analysis of dietary patterns and their role in long-term health is limited in phenylketonuria (PKU). Food frequency questionnaires (FFQ) are commonly used to assess habitual intake. A semi-quantitative 89-item FFQ with a portion size photographic booklet ...

Abstract	Analysis of dietary patterns and their role in long-term health is limited in phenylketonuria (PKU). Food frequency questionnaires (FFQ) are commonly used to assess habitual intake. A semi-quantitative 89-item FFQ with a portion size photographic booklet was developed for children with PKU as a tool for collecting data on habitual intake of foods, food groups, energy and macronutrient intake. Twenty children with PKU aged 11−16 years, 30 parents of children with PKU aged 4−10 years, and 50 age/gender-matched control children were recruited. To test reproducibility, FFQs were completed twice with a mean interval of 5 weeks (range: 4−10). In order to test validity, FFQs were compared with five 24-h dietary recalls with a mean interval of 10 days (range: 6−18). Energy and macronutrient intake and quantity/week of individual food items were calculated and compared. There was good reproducibility for the FFQ with macronutrient correlations r > 0.6 and good validity data with most correlations r > 0.5. Bland−Altman plots for reproducibility and validity showed mean levels close to 0 and usually within 2 standard deviations. FFQ comparisons of PKU and control groups identified expected differences in % energy from macronutrients (PKU vs. control: carbohydrate 59% vs. 51%, fat 26% vs. 33%, protein 15% vs. 16%). This FFQ for PKU produced comparable data to repeated dietary recalls and is a valid tool for collecting data on habitual food and nutrient intake. It will be useful in assessing changes in dietary phenylalanine tolerance of new pharmacological treatments for PKU.
MeSH term(s)	Child ; Diet ; Diet Records ; Diet Surveys ; Diet, Protein-Restricted ; Energy Intake ; Humans ; Reproducibility of Results ; Surveys and Questionnaires
Language	English
Publishing date	2022-04-12
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu14081595
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Significance of thickening of the upper gastrointestinal tract on cross sectional imaging: Endoscopic correlation.

Ashmore, Christopher / Hunter, David / Kenningham, Richard / Billimoria, Vini / Bowrey, David J

European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology

2022 Volume 48, Issue 10, Page(s) 2127–2131

Abstract: Aim: To report the endoscopic findings for a cohort of patients referred for discussion at a specialist oesophago-gastric multi-disciplinary team (MDT) meeting, on the basis of CT mural thickening.: Patients and methods: The records of patients ... ...

Abstract	Aim: To report the endoscopic findings for a cohort of patients referred for discussion at a specialist oesophago-gastric multi-disciplinary team (MDT) meeting, on the basis of CT mural thickening. Patients and methods: The records of patients discussed at a regional oesophago-gastric MDT during the time 1 Results: 456 patients were referred for discussion, 126 met the inclusion criteria. Endoscopy confirmed malignancy in 50/126 patients (40%); by site, oesophagus (21/67, 31%), stomach (25/50, 50%), duodenum (4/9, 44%). Malignancy was confirmed for 10/48 (21%) patients with isolated wall thickening, for 11/33 (33%) when regional lymphadenopathy was identified, and for 28/44 (64%) when possible metastatic disease was identified. The commonest source of diagnostic uncertainty was thickening around the gastro-oesophageal junction in the presence of a hiatal hernia. Wall thickening >20 mm was strongly associated with malignancy compared to thickening =<20 mm (p < 0.0001). Using this threshold would have resulted in a sensitivity of 32/50 (64%), a specificity of 55/76 (72%), a positive predictive value of 32/53 (60%) and a negative predictive value of 55/73 (75%) in this cohort. Conclusions: The cancer pick-up rate of 40% and the medicolegal consequences of a missed cancer suggest that endoscopy should be performed in all patients with CT identified mural thickening. In the presence of isolated mural thickening and a normal endoscopy, no formal MDT discussion is required.
MeSH term(s)	Humans ; Cross-Sectional Studies ; Upper Gastrointestinal Tract/diagnostic imaging ; Esophagogastric Junction/diagnostic imaging ; Esophagus ; Endoscopy, Gastrointestinal
Language	English
Publishing date	2022-06-04
Publishing country	England
Document type	Journal Article
ZDB-ID	632519-1
ISSN	1532-2157 ; 0748-7983
ISSN (online)	1532-2157
ISSN	0748-7983
DOI	10.1016/j.ejso.2022.05.027
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Article: Home delivery service of low protein foods in inherited metabolic disorders: Does it help?

MacDonald, A / Pinto, A / Evans, S / Ashmore, C / MacDonald, J / Daly, A

Molecular genetics and metabolism reports

2019 Volume 19, Page(s) 100466

Abstract: Background: In the UK, the customary method of obtaining special low protein (LP) foods was by dispensing through a pharmacist (until 2010) for patients with inherited metabolic disorders (IMD) requiring LP diets. Recently, different home delivery ... ...

Abstract	Background: In the UK, the customary method of obtaining special low protein (LP) foods was by dispensing through a pharmacist (until 2010) for patients with inherited metabolic disorders (IMD) requiring LP diets. Recently, different home delivery services have been introduced to support patient access of low protein foods, but the effectiveness of these services is unclear. Aim: A prospective, longitudinal, observational study to examine the effectiveness and safety of patient home delivery services for LP foods over 12 months in IMD patients requiring a LP diet. Methods: IMD patients/caregivers had the choice of 2 home delivery services (Homeward® and Vitaflo at Home®) as well as access to primary care pharmacy services. Both home delivery services provided a limited range of LP foods. Over a 12-month period, a member of the IMD dietetic team conducted 4 home visits to IMD patients on LP diets using home delivery services for low protein foods. At each visit, caregivers completed a questionnaire consisting of 20 multiple choice and open questions about their prescription experience with special LP foods. The researchers also completed stock checks, assessed 'use by dates' and adequacy of home storage for LP foods. Results: In total, 58 patients participated in this study. Over 12 months, 95% ( Conclusions: Although home delivery services for special LP foods are associated with less errors and delay compared with pharmacies, inaccuracies and inefficiencies still occur and the overall system is complex. We suggest a new, simpler, less fragmented system whereby metabolic dietitians prescribe LP foods. This is likely to result in less burden on NHS resources and ensure a better treatment delivered to IMD patients.
Language	English
Publishing date	2019-03-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2019.100466
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Article ; Online: Impact on Diet Quality and Burden of Care in Sapropterin Dihydrochloride Use in Children with Phenylketonuria: A 6 Month Follow-Up Report.

Gama, Maria Inês / Daly, Anne / Ashmore, Catherine / Evans, Sharon / Moreira-Rosário, André / Rocha, Júlio César / MacDonald, Anita

Nutrients

2023 Volume 15, Issue 16

Abstract: Introduction: In phenylketonuria (PKU) changes in dietary patterns and behaviors in sapropterin-responsive populations have not been widely reported. We aimed to assess changes in food quality, mental health and burden of care in a paediatric PKU ... ...

Abstract	Introduction: In phenylketonuria (PKU) changes in dietary patterns and behaviors in sapropterin-responsive populations have not been widely reported. We aimed to assess changes in food quality, mental health and burden of care in a paediatric PKU sapropterin-responsive cohort. Methods: In an observational, longitudinal study, patient questionnaires on food frequency, neophobia, anxiety and depression, impact on family and burden of care were applied at baseline, 3 and 6-months post successful sapropterin-responsiveness testing (defined as a 30% reduction in blood phenylalanine levels). Results: 17 children (10.8 ± 4.2 years) completed 6-months follow-up. Patients body mass index (BMI) z-scores remained unchanged after sapropterin initiation. Blood phenylalanine was stable. Natural protein increased ( Conclusion: There were significant positive changes in food patterns, behaviors and burden of care in children with PKU and their families after 6-months on sapropterin treatment.
MeSH term(s)	Animals ; Cattle ; Female ; Bread ; Diet ; Follow-Up Studies ; Longitudinal Studies ; Phenylketonurias/drug therapy
Chemical Substances	sapropterin (EGX657432I)
Language	English
Publishing date	2023-08-17
Publishing country	Switzerland
Document type	Journal Article ; Observational Study
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu15163603
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Article ; Online: Parent's Perception of the Types of Support Given to Families with an Infant with Phenylketonuria.

Cassidy, Sophie / Evans, Sharon / Pinto, Alex / Daly, Anne / Ashmore, Catherine / Ford, Suzanne / Buckley, Sharon / MacDonald, Anita

Nutrients

2023 Volume 15, Issue 10

Abstract: Background: A diagnosis of phenylketonuria (PKU) in an infant is a devastating and overwhelming event for their parents. Providing appropriate information and support is paramount, especially at the beginning of a child's life. Investigating if parents ... ...

Abstract	Background: A diagnosis of phenylketonuria (PKU) in an infant is a devastating and overwhelming event for their parents. Providing appropriate information and support is paramount, especially at the beginning of a child's life. Investigating if parents are receiving the right support is important for continued care. Methodology: An online survey was distributed to explore parents' perceptions of current support and information provided by their healthcare provider and to rate sources of other support ( Results: Dietitians received the highest (85%) rate of "very helpful" support. Overall, parents found Facebook to be helpful for support but had mixed reactions when asked if healthcare professionals (HCPs) should provide advice as part of the groups. When rating the most effective learning methods, the top three were 1:1 teaching sessions ( Conclusion: Most parents are happy with the support and information they receive from their dietitian but required more support from other HCPs. Facebook groups provide parents with the social support that HCPs and their family may be unable to offer, suggesting a place for social media in future PKU care.
MeSH term(s)	Child ; Humans ; Infant ; Parents ; Health Personnel ; Nutritionists ; Phenylketonurias ; Perception
Language	English
Publishing date	2023-05-16
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu15102328
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Article ; Online: Phenylalanine free infant formula in the dietary management of phenylketonuria.

Yilmaz, Ozlem / Cochrane, Barbara / Wildgoose, Jo / Pinto, Alex / Evans, Sharon / Daly, Anne / Ashmore, Catherine / MacDonald, Anita

Orphanet journal of rare diseases

2023 Volume 18, Issue 1, Page(s) 16

Abstract: Background: Phenylalanine-free infant formula is an essential source of safe protein in a phenylalanine restricted diet, but its efficacy is rarely studied. We report a multicentre, open, longitudinal, prospective intervention study on a phenylalanine- ... ...

Abstract	Background: Phenylalanine-free infant formula is an essential source of safe protein in a phenylalanine restricted diet, but its efficacy is rarely studied. We report a multicentre, open, longitudinal, prospective intervention study on a phenylalanine-free infant formula (PKU Start: Vitaflo International Ltd.). Results: This was a 2-part study: part I (28 days short term evaluation) and part II (12 months extension). Data was collected on infant blood phenylalanine concentrations, dietary intake, growth, and gastrointestinal tolerance. Ten infants (n = 8 males, 80%), with a median age of 14 weeks (range 4-36 weeks) were recruited from 3 treatment centres in the UK. Nine of ten infants completed the 28-day follow-up (one caregiver preferred the usual phenylalanine-free formula and discontinued the study formula after day 14) and 7/9 participated in study part II. The phenylalanine-free infant formula contributed a median of 57% (IQR 50-62%) energy and 53% (IQR 33-66%) of total protein intake from baseline to the end of the part II extension study. During the 12-month follow-up, infants maintained normal growth and satisfactory blood phenylalanine control. Any early gastrointestinal symptoms (constipation, colic, vomiting and poor feeding) improved with time. Conclusion: The study formula was well tolerated, helped maintain good metabolic control, and normal growth in infants with PKU. The long-term efficacy of phenylalanine-free infant formula should continue to be observed and monitored.
MeSH term(s)	Infant ; Male ; Humans ; Infant Formula ; Prospective Studies ; Phenylalanine ; Proteins ; Phenylketonurias
Chemical Substances	Phenylalanine (47E5O17Y3R) ; Proteins
Language	English
Publishing date	2023-01-25
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-023-02621-9
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Article ; Online: Preliminary Data on Free Use of Fruits and Vegetables Containing Phenylalanine 76-100 mg/100 g of Food in 16 Children with Phenylketonuria: 6 Months Follow-Up.

Pinto, Alex / Daly, Anne / Rocha, Júlio César / Ashmore, Catherine / Evans, Sharon / Jackson, Richard / Hickson, Mary / MacDonald, Anita

Nutrients

2023 Volume 15, Issue 13

Abstract: In phenylketonuria (PKU), a previous intervention study assessing the patients ability to tolerate fruits and vegetables containing phenylalanine 76-100 mg/100 g without limit or measurement, found that an extra 50 mg/day phenylalanine, but not 100 mg/ ... ...

Abstract	In phenylketonuria (PKU), a previous intervention study assessing the patients ability to tolerate fruits and vegetables containing phenylalanine 76-100 mg/100 g without limit or measurement, found that an extra 50 mg/day phenylalanine, but not 100 mg/day, was tolerated from these fruits and vegetables. In a further 6-month extension study, we examined the effect of the 'free' use of this group of fruits and vegetables on blood phenylalanine control. For 6 months, the patients ate fruits and vegetables containing phenylalanine 76-100 mg/100 g without limit or measurement. Three-day diet diaries and the patients' weights were collected monthly. Blood phenylalanine spots were collected weekly aiming for blood phenylalanine levels <360 μmol/L. Retrospective blood phenylalanine was collected 6 months pre-trial. All 16 patients (69% females) from the intervention study took part in the extension study. Most of the patients (
MeSH term(s)	Female ; Humans ; Child ; Adolescent ; Male ; Vegetables ; Fruit ; Phenylalanine ; Retrospective Studies ; Follow-Up Studies ; Preliminary Data ; Phenylketonurias
Chemical Substances	Phenylalanine (47E5O17Y3R)
Language	English
Publishing date	2023-07-06
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu15133046
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Article ; Online: Natural Protein Intake in Children with Phenylketonuria: Prescription vs. Actual Intakes.

Pinto, Alex / Daly, Anne / Rocha, Júlio César / Ashmore, Catherine / Evans, Sharon / Ilgaz, Fatma / Hickson, Mary / MacDonald, Anita

Nutrients

2023 Volume 15, Issue 23

Abstract: In phenylketonuria (PKU), an important component of the UK dietary management system is a 50 mg phenylalanine (Phe)/1 g protein exchange system used to allocate the Phe/natural protein intakes according to individual patient tolerance. Any foods ... ...

Abstract	In phenylketonuria (PKU), an important component of the UK dietary management system is a 50 mg phenylalanine (Phe)/1 g protein exchange system used to allocate the Phe/natural protein intakes according to individual patient tolerance. Any foods containing protein ≤ 0.5 g/100 g or fruits/vegetables containing Phe ≤ 75 mg/100 g are allowed without measurement or limit. In children with PKU, we aimed to assess the difference between the prescribed natural protein intake and their actual consumed intake, and to calculate the natural protein/Phe intake from foods given without measurement or restriction. Over a 6-month duration, three one-day diet diaries were collected every month by caregivers of children with PKU at the beginning of a follow-up study. Dietary intakes of Phe, as well as natural and total protein intakes, were calculated using Nutritics
MeSH term(s)	Child ; Female ; Humans ; Male ; Follow-Up Studies ; Phenylketonurias ; Diet ; Phenylalanine ; Prescriptions
Chemical Substances	Phenylalanine (47E5O17Y3R)
Language	English
Publishing date	2023-11-23
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu15234903
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Article ; Online: Protein Substitutes in PKU; Their Historical Evolution.

Daly, Anne / Evans, Sharon / Pinto, Alex / Ashmore, Catherine / MacDonald, Anita

Nutrients

2021 Volume 13, Issue 2

Abstract: Protein substitutes developed for phenylketonuria (PKU) are a synthetic source of protein commonly based on L-amino acids. They are essential in the treatment of phenylketonuria (PKU) and other amino acid disorders, allowing the antagonistic amino acid ... ...

Abstract	Protein substitutes developed for phenylketonuria (PKU) are a synthetic source of protein commonly based on L-amino acids. They are essential in the treatment of phenylketonuria (PKU) and other amino acid disorders, allowing the antagonistic amino acid to be removed but with the safe provision of all other amino acids necessary for maintaining normal physiological function. They were first formulated by a chemist and used experimentally on a 2-year-old girl with PKU and their nutritional formulations and design have improved over time. Since 2008, a bioactive macropeptide has been used as a base for protein substitutes in PKU, with potential benefits of improved bone and gut health, nitrogen retention, and blood phenylalanine control. In 2018, animal studies showed that physiomimic technology coating the amino acids with a polymer allows a slow release of amino acids with an improved physiological profile. History has shown that in PKU, the protein substitute's efficacy is determined by its nutritional profile, amino acid composition, dose, timing, distribution, and an adequate energy intake. Protein substitutes are often given little importance, yet their pharmacological actions and clinical benefit are pivotal when managing PKU.
MeSH term(s)	Amino Acids/administration & dosage ; Amino Acids/analysis ; Animals ; Caseins/administration & dosage ; Caseins/chemistry ; Child, Preschool ; Dietary Proteins/administration & dosage ; Dietary Proteins/chemistry ; Female ; History, 20th Century ; History, 21st Century ; Humans ; Nutritional Requirements ; Peptide Fragments/administration & dosage ; Peptide Fragments/chemistry ; Phenylalanine/blood ; Phenylalanine/chemistry ; Phenylketonurias/blood ; Phenylketonurias/diet therapy ; Phenylketonurias/history ; Phenylpyruvic Acids/urine ; Protein Hydrolysates/administration & dosage ; United Kingdom
Chemical Substances	Amino Acids ; Caseins ; Dietary Proteins ; Peptide Fragments ; Phenylpyruvic Acids ; Protein Hydrolysates ; caseinomacropeptide ; Phenylalanine (47E5O17Y3R) ; phenylpyruvic acid (X7CO62M413)
Language	English
Publishing date	2021-02-02
Publishing country	Switzerland
Document type	Historical Article ; Journal Article ; Review
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu13020484
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Article ; Online: Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I.

Daly, Anne / Evans, Sharon / Pinto, Alex / Ashmore, Catherine / MacDonald, Anita

Nutrients

2021 Volume 13, Issue 9

Abstract: Tyrosinemia type I (HTI) is treated with nitisinone, a tyrosine (Tyr) and phenylalanine (Phe)-restricted diet, and supplemented with a Tyr/Phe-free protein substitute (PS). Casein glycomacropeptide (CGMP), a bioactive peptide, is an alternative protein ... ...

Abstract	Tyrosinemia type I (HTI) is treated with nitisinone, a tyrosine (Tyr) and phenylalanine (Phe)-restricted diet, and supplemented with a Tyr/Phe-free protein substitute (PS). Casein glycomacropeptide (CGMP), a bioactive peptide, is an alternative protein source to traditional amino acids (L-AA). CGMP contains residual Tyr and Phe and requires supplementation with tryptophan, histidine, methionine, leucine, cysteine and arginine. Aims: a 2-part study assessed: (1) the tolerance and acceptability of a low Tyr/Phe CGMP-based PS over 28 days, and (2) its long-term impact on metabolic control and growth over 12 months. Methods: 11 children with HTI were recruited and given a low Tyr/Phe CGMP to supply all or part of their PS intake. At enrolment, weeks 1 and 4, caregivers completed a questionnaire on gastrointestinal symptoms, acceptability and ease of PS use. In study part 1, blood Tyr and Phe were assessed weekly; in part 2, weekly to fortnightly. In parts 1 and 2, weight and height were assessed at the study start and end. Results: Nine of eleven children (82%), median age 15 years (range 8.6-17.7), took low Tyr/Phe CGMP PS over 28 days; it was continued for 12 months in Conclusions: In HTI children, CGMP was well tolerated, with no deterioration in metabolic control or growth when studied over 12 months. The efficacy of CGMP in HTI needs further investigation to evaluate the longer-term impact on blood Phe concentrations and its potential influence on gut microflora.
MeSH term(s)	Adolescent ; Amino Acids/administration & dosage ; Amino Acids/blood ; Caseins/administration & dosage ; Child ; Child, Preschool ; Cyclohexanones/administration & dosage ; Diet/methods ; Dietary Proteins/administration & dosage ; Dietary Supplements ; Female ; Humans ; Male ; Nitrobenzoates/administration & dosage ; Peptide Fragments/administration & dosage ; Phenylalanine/administration & dosage ; Phenylalanine/blood ; Prospective Studies ; Tyrosine/administration & dosage ; Tyrosine/blood ; Tyrosinemias/diet therapy
Chemical Substances	Amino Acids ; Caseins ; Cyclohexanones ; Dietary Proteins ; Nitrobenzoates ; Peptide Fragments ; caseinomacropeptide ; Tyrosine (42HK56048U) ; Phenylalanine (47E5O17Y3R) ; nitisinone (K5BN214699)
Language	English
Publishing date	2021-09-16
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu13093224
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