Diagnostisk RET-genetisk testning hos 1.058 indekspatienter: et britisk centerperspektiv
Goal: Diagnostic germline RET evaluation is obtainable to all sufferers with a prognosis of medullary thyroid carcinoma (MTC), or different situations related to a number of endocrine neoplasia kind 2 (MEN2) in the UK. Right here we report the expertise of a single centre’s germline RET evaluation over a 21-year interval.
Design: Retrospective case-note assessment PATIENTS: All index sufferers referred to the Exeter Genomics Laboratory for diagnostic germline RET evaluation between 1997 and 2018, and unaffected relations, present process predictive testing.
Measurements: The speed and nature of pathogenic variant detection was recorded, in addition to the indication for testing.
Outcomes: 1,058 index sufferers and 551 unaffected relations have been examined. The general charge of pathogenic variant detection was 10.2% amongst index sufferers, and 29% amongst unaffected relations.
The most common indication was remoted MTC, and amongst the 690 sufferers with remoted MTC, 68 (9.9%) have been discovered to harbour a RET pathogenic variant. Of these with presumed sporadic MTC, 8.5% have been discovered to harbour germline RET pathogenic variants, in contrast with 36.4% of these with a household historical past of MEN2-associated situations. Pathogenic variants have been recognized in 3.6% and 0% of sufferers with remoted phaeochromocytoma and first hyperparathyroidism respectively.
Conclusions: Though the detection charge of RET germline pathogenic variants in sufferers with presumed sporadic MTC was important, the general detection charge in these with MTC was decrease than anticipated on this collection. Advances in RET evaluation in response to stories of latest variants over the past 20 years are prone to have improved the pick-up charge in recent times.
Key phrases: Hyperparathyroidism; A number of Endocrine Neoplasia Sort 2a; A number of Endocrine Neoplasia Sort 2b; Phaeochromocytoma; Proto-oncogene proteins; c-ret; carcinoma; genetic testing; medullary; main.

Gamborg B-5 Basal Medium (Powder) |
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| MBS652852-5x30g | MyBiosource | 5x30g | EUR 215 |
MS BASAL MEDIUM w/ GAMBORG VITAMINS |
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| M404 | PhytoTechnology Laboratories | 100L | EUR 29.84 |
Gamborg's B-5 Medium |
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| CP009-010 | GenDepot | 10X1L | EUR 118.8 |
Gamborg's B-5 Medium |
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| CP009-500 | GenDepot | 50L | EUR 151.2 |
Gamborg B5 Vitamin Mix |
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| 30630027-1 | Bio-WORLD | 100 mL | EUR 41.8 |
Gamborg's B-5 Medium; With Vitamins |
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| CP011-010 | GenDepot | 10X1L | EUR 121.2 |
Gamborg's B-5 Medium; With Vitamins |
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| CP011-500 | GenDepot | 50L | EUR 151.2 |
Gamborg's B-5 Long Medium |
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| CP013-010 | GenDepot | 10X1L | EUR 135.6 |
Gamborg's B-5 Long Medium |
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| CP013-100 | GenDepot | 10L | EUR 121.2 |
Gamborg's B-5 Medium; With 20g/L Sucrose |
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| CP010-010 | GenDepot | 10X1L | EUR 124.8 |
Gamborg's B-5 Medium; With 20g/L Sucrose |
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| CP010-500 | GenDepot | 50L | EUR 141.6 |
Gamborg's B-5 Medium; With Vitamins and Sucrose |
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| CP012-010 | GenDepot | 10X1L | EUR 124.8 |
Gamborg's B-5 Medium; With Vitamins and Sucrose |
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| CP012-500 | GenDepot | 50L | EUR 151.2 |
Gamborg B5 Vitamin Concentrate (Syringe Vials) |
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| 30630026-1 | Bio-WORLD | 100 mL | EUR 55.96 |
GAMBORG BASAL SALT MIXTURE |
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| G768 | PhytoTechnology Laboratories | 100L | EUR 31.63 |
Gamborg's Vitamin Stcks, Liquid |
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| CP049-010 | GenDepot | 125 ml bottle | EUR 128.4 |
Murashige and Skoog, With Gamborg's Vitamins |
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| CP029-010 | GenDepot | 10X1L | EUR 135.6 |
Murashige and Skoog, With Gamborg's Vitamins |
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| CP029-500 | GenDepot | 50L | EUR 165.6 |
Human iPS Growth Medium (PSGro Medium) |
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| TBS8023 | Tribioscience | 500 mL | EUR 189 |
Medium 199 |
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| C0012-01 | Addexbio | RT 500 mL Bottle | EUR 36 |
Medium 199 |
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| MBS2557648-10L | MyBiosource | 10L | EUR 165 |
Medium 199 |
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| MBS2557648-50L | MyBiosource | 50L | EUR 345 |
Medium 199 |
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| MBS2557648-5L | MyBiosource | 5L | EUR 150 |
Medium 199 |
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| MBS2557648-5x50L | MyBiosource | 5x50L | EUR 1060 |
Medium 199 |
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| CC121-0500 | GeneDireX | 500 mL | Ask for price |
HS Medium (Hydrosulphite of Sodium Medium) |
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| 77707 | Sisco Laboratories | 100 Gms | EUR 7.7 |
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Description: Part D |
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HS Medium (Hydrosulphite of Sodium Medium) |
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| 77707-1 | Sisco Laboratories | 500 Gms | EUR 25.66 |
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Description: Part D |
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SIM Medium (Sulfite Indole Motility Medium) |
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| 49810 | Sisco Laboratories | 100 Gms | EUR 6.84 |
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Description: Part D |
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SIM Medium (Sulfite Indole Motility Medium) |
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| 49810-1 | Sisco Laboratories | 500 Gms | EUR 27.37 |
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Description: Part D |
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Listeria Enrichment Medium Base (UVM Medium) |
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| 28685 | Sisco Laboratories | 100 Gms | EUR 11.97 |
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Description: Part D |
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Listeria Enrichment Medium Base (UVM Medium) |
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| 28685-1 | Sisco Laboratories | 500 Gms | EUR 54.74 |
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Description: Part D |
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MlO Medium (Motility Indole Ornithine Medium) |
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| 88736 | Sisco Laboratories | 100 Gms | EUR 7.7 |
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Description: Part D |
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MlO Medium (Motility Indole Ornithine Medium) |
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| 88736-1 | Sisco Laboratories | 500 Gms | EUR 31.64 |
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Description: Part D |
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Medium 199 medium with 20mM HEPES, without glutamine |
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| BS.F 0665 | Bio&SELL | 500 mL | Ask for price |
MIU Medium Base (Motility Indole Urea Medium) |
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| 16309 | Sisco Laboratories | 100 Gms | EUR 9.41 |
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Description: Part D |
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MIU Medium Base (Motility Indole Urea Medium) |
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| 16309-1 | Sisco Laboratories | 500 Gms | EUR 35.07 |
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Description: Part D |
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A Medium |
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| DJ1018 | Bio Basic | 100g | EUR 101.76 |
LB Medium |
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| TBS8056 | Tribioscience | 1L | EUR 36 |
M9 Medium |
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| SD7024 | Bio Basic | 250g | EUR 86.1 |
YM Medium |
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| SD7031 | Bio Basic | 250g | EUR 84.54 |
X6 MEDIUM |
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| X8458 | PhytoTechnology Laboratories | 10L | EUR 30.71 |
DC MEDIUM |
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| D04-117-10kg | Alphabiosciences | 10 kg | EUR 1894.8 |
DC MEDIUM |
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| D04-117-2kg | Alphabiosciences | 2kg | EUR 458.4 |
DC MEDIUM |
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| D04-117-500g | Alphabiosciences | 500 g | EUR 168 |
EC MEDIUM |
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| E05-100-10kg | Alphabiosciences | 10 kg | EUR 976.8 |
EC MEDIUM |
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| E05-100-2Kg | Alphabiosciences | 2 Kg | EUR 259.2 |
EC MEDIUM |
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| E05-100-500g | Alphabiosciences | 500 g | EUR 114 |
OF Medium - 500G |
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| MED1664 | Scientific Laboratory Supplies | 500G | EUR 89.1 |
NLN Medium |
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| 30630102-2 | Bio-WORLD | 25 L | EUR 24.83 |
NLN Medium |
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| 30630102-3 | Bio-WORLD | 50 L | EUR 50.47 |
TAP Medium |
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| 30639002-1 | Bio-WORLD | 100 g | EUR 62.23 |
TAP Medium |
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| 30639002-2 | Bio-WORLD | 500 g | EUR 258.4 |
MSC Medium |
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| TBS8021 | Tribioscience | 500 mL | EUR 245 |
SOB Medium |
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| TBS8057 | Tribioscience | 1L | EUR 45 |
SOC Medium |
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| TBS8058 | Tribioscience | 100 mL | EUR 35 |
M63 Medium |
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| SD7033 | Bio Basic | 250g | EUR 86.1 |
YEP MEDIUM |
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| Y889 | PhytoTechnology Laboratories | 1L | EUR 75.28 |
HLP MEDIUM |
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| H08-107-10kg | Alphabiosciences | 10 kg | EUR 2733.6 |
HLP MEDIUM |
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| H08-107-2Kg | Alphabiosciences | 2 Kg | EUR 640.8 |
HLP MEDIUM |
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| H08-107-500g | Alphabiosciences | 500 g | EUR 218.4 |
SIM MEDIUM |
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| S19-110-10kg | Alphabiosciences | 10 kg | EUR 1225.2 |
SIM MEDIUM |
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| S19-110-2kg | Alphabiosciences | 2kg | EUR 313.2 |
SIM MEDIUM |
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| S19-110-500g | Alphabiosciences | 500 g | EUR 128.4 |
SOB MEDIUM |
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| S19-124-10kg | Alphabiosciences | 10 kg | EUR 1158 |
SOB MEDIUM |
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| S19-124-2kg | Alphabiosciences | 2kg | EUR 298.8 |
SOB MEDIUM |
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| S19-124-500g | Alphabiosciences | 500 g | EUR 124.8 |
RM-01 Refeed Medium (zero-Serum Refeed medium) |
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| 10-310100 | Quidel | 100 mL | Ask for price |
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Description: A defined medium with EMEM with EBSS, and Glutamine. Sterile. |
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VALI Medium |
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| 0450 | AthenaES | 500 ml | EUR 177.1 |
BEGM Medium |
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| 0451 | AthenaES | 500 ml | EUR 89.6 |
M9CA Medium |
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| 68957 | Sisco Laboratories | 100 Gms | EUR 21.38 |
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Description: Part D |
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M9CA Medium |
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| 68957-1 | Sisco Laboratories | 500 Gms | EUR 86.38 |
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Description: Part D |
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TM4G Medium |
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| 30630177-2 | Bio-WORLD | 25 L | EUR 28.45 |
TM4G Medium |
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| 30630177-3 | Bio-WORLD | 50 L | EUR 52.97 |
mD5A MEDIUM |
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| M5516 | PhytoTechnology Laboratories | 10L | EUR 258.64 |
M9CA Medium |
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| SD7025 | Bio Basic | 250g | EUR 86.1 |
IMDM Medium |
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| 6016311 | Dakewe Biosci | 500 mL | Ask for price |
Medium 199 powder |
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| BS.T.061.10 | Bio&SELL | 10 L | Ask for price |
Insect Cell Medium: TNM-FH Insect Culture Medium |
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| ABP-MED-10001 | Allele Biotech | 1 liter | Ask for price |
Aseptic Commissioning Medium (Aseptic Packing Line Medium) |
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| 15577 | Sisco Laboratories | 100 Gms | EUR 9.41 |
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Description: Part D |
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Aseptic Commissioning Medium (Aseptic Packing Line Medium) |
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| 15577-1 | Sisco Laboratories | 500 Gms | EUR 34.21 |
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Description: Part D |
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White's Medium |
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| 30630124-3 | Bio-WORLD | 25 L | EUR 40.78 |
White's Medium |
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| 30630124-4 | Bio-WORLD | 50 L | EUR 55.96 |
Wurtz Medium |
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| 26434 | Sisco Laboratories | 100 Gms | EUR 8.55 |
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Description: Part D |
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Wurtz Medium |
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| 26434-1 | Sisco Laboratories | 500 Gms | EUR 33.36 |
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Description: Part D |
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TYGPN Medium |
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| SD7032 | Bio Basic | 250g | EUR 84.01 |
Craigs Medium |
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| 48743 | Sisco Laboratories | 100 Gms | EUR 10.26 |
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Description: Part D |
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Craigs Medium |
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| 48743-1 | Sisco Laboratories | 500 Gms | EUR 30.79 |
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Description: Part D |
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Heller Medium |
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| 30630036-2 | Bio-WORLD | 25 L | EUR 32.77 |
Heller Medium |
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| 30630036-3 | Bio-WORLD | 50 L | EUR 55.37 |
Jensen's Medium |
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| 30630039-3 | Bio-WORLD | 25 L | EUR 52.26 |
Jensen's Medium |
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| 30630039-4 | Bio-WORLD | 50 L | EUR 99.51 |
Litvay Medium |
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| 30630048-3 | Bio-WORLD | 25 L | EUR 38.27 |
Litvay Medium |
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| 30630048-4 | Bio-WORLD | 50 L | EUR 51.99 |
Nitsch Medium |
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| 30630095-2 | Bio-WORLD | 25 L | EUR 32.39 |
Nitsch Medium |
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| 30630095-3 | Bio-WORLD | 50 L | EUR 55.85 |
Heller's Medium |
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| CP014-010 | GenDepot | 10X1L | EUR 118.8 |
Heller's Medium |
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| CP014-500 | GenDepot | 50L | EUR 151.2 |
Insect Cell Medium: Serum-Free Insect Culture Medium |
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| ABP-MED-10002 | Allele Biotech | 1 liter | Ask for price |
Euglena Medium |
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| 30639001-1 | Bio-WORLD | 500 g | EUR 111.51 |
BLAYDES MEDIUM |
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| B514 | PhytoTechnology Laboratories | 10L | EUR 31.63 |
Bacillus Medium |
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| 51747 | Sisco Laboratories | 100 Gms | EUR 6.84 |
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Description: Part D |
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Bacillus Medium |
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| 51747-1 | Sisco Laboratories | 500 Gms | EUR 28.22 |
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Description: Part D |
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Mounting Medium |
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| 4300 | Virostat | 3 ml | EUR 140 |
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Description: (non-fading) |
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Orchimax Medium |
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| 30630105-3 | Bio-WORLD | 25 L | EUR 59.72 |
Orchimax Medium |
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| 30630105-4 | Bio-WORLD | 50 L | EUR 79.62 |
Hoagland's Medium |
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| CP015-010 | GenDepot | 10X1L | EUR 118.8 |
Hoagland's Medium |
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| CP015-500 | GenDepot | 50L | EUR 151.2 |
Advanced Medium |
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| C0003-04 | Addexbio | RT 500 mL Bottle | EUR 30.99 |
Mounting Medium |
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| MBS320454-01mg | MyBiosource | 0.1mg | EUR 230 |
Mounting Medium |
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| MBS320454-5x01mg | MyBiosource | 5x0.1mg | EUR 945 |
COLIFORM MEDIUM |
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| C03-127-10kg | Alphabiosciences | 10 kg | EUR 1588.8 |
COLIFORM MEDIUM |
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| C03-127-2kg | Alphabiosciences | 2kg | EUR 392.4 |
COLIFORM MEDIUM |
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| C03-127-500g | Alphabiosciences | 500 g | EUR 150 |
Insect Cell Medium: Grace?s Insect Medium (Unsupplemented) |
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| ABP-MED-10004 | Allele Biotech | 1 liter | Ask for price |
AmnioGrow Medium - 100ml |
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| AGM-100M | Biosera France - Medical Scientific Equipment | 100ml | EUR 32.78 |
Prenaplus Medium -100ml |
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| PPM-100 | Biosera France - Medical Scientific Equipment | 100ml | EUR 57.75 |
RM-02 Refeed Medium (Standard 2% FBS Refeed Medium) |
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| 10-320100 | Quidel | 100 mL | Ask for price |
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Description: used with most cell cultures for detection of viruses other than influenza |
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RM-02 Refeed Medium (Standard 2% FBS Refeed Medium) |
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| 10-320500 | Quidel | 500 mL | Ask for price |
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Description: used with most cell cultures for detection of viruses other than influenza |
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RM-05 Refeed Medium (Standard 10% FBS Refeed Medium) |
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| 10-350100 | Quidel | 100 mL | Ask for price |
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Description: used with most cell cultures for detection of viruses other than influenza |
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RM-05 Refeed Medium (Standard 10% FBS Refeed Medium) |
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| 10-350500 | Quidel | 500 mL | Ask for price |
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Description: used with most cell cultures for detection of viruses other than influenza |
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Rhizobium Medium |
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| 71467 | Sisco Laboratories | 100 Gms | EUR 11.12 |
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Description: Part D |
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Rhizobium Medium |
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| 71467-1 | Sisco Laboratories | 500 Gms | EUR 34.21 |
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Description: Part D |
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LymphoGrow Medium - 100ml |
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| LGM-100 | Biosera France - Medical Scientific Equipment | 100ml | EUR 32.78 |
MarrowGrow Medium - 100ml |
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| MGM-100 | Biosera France - Medical Scientific Equipment | 100ml | EUR 54.4 |
Drosophila Diet Medium (Powder) (Caltech Medium, Fruitfly diet) |
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| MBS653271-100L | MyBiosource | 100L | EUR 1205 |
Drosophila Diet Medium (Powder) (Caltech Medium, Fruitfly diet) |
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| MBS653271-10L | MyBiosource | 10L | EUR 340 |
Drosophila Diet Medium (Powder) (Caltech Medium, Fruitfly diet) |
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| MBS653271-1L | MyBiosource | 1L | EUR 170 |
DORSCON Orange: En tilgang til udfordringer i et travlt fosterdiagnostikcenter midt i en world pandemi
The WHO declared the coronavirus illness 2019 (COVID-19) a worldwide pandemic on 11 March 2020. Classes from SARS epidemic led Singapore to develop stringent an infection management protocols in preparation for future pandemics.
Nonetheless, in contrast to SARS, COVID-19 seems to be extra transmissible and is predicted to proceed for longer. As of 14 June 2020, there have been 40,197 constructive instances with 26 deaths in Singapore, and KK Girls’s and Youngsters’s Hospital (KKH) has managed a complete of 73 instances.
Obstetrics ultrasound is an indispensable medical service and should proceed to function throughout a pandemic. A key steadiness should be struck between retaining sufferers and healthcare employees secure whereas having the ability to present high quality and immediate obstetric care.
Our Antenatal Diagnostic Centre (ADC) in KKH developed new methods to adapt to the pandemic when the nationwide Illness Outbreak Response System Situation (DORSCON) was raised from yellow to orange on 7 February 2020. On this paper, we talk about our scientific workflow to cut back the chance of transmission amongst sufferers and employees whereas minimising disruption to our providers.
Ektopisk ACTH-syndrom med forskellig oprindelse – Diagnostisk tilgang og klinisk resultat. Erfaring med et klinisk middle
Goal: Ectopic Cushing Syndrome (EAS) is a uncommon situation accountable for about 5-20% of all Cushing syndrome instances. It will increase the mortality of affected sufferers thus discovering and removing of the ACTH-producing supply permits for curing or discount of signs and serum cortisol ranges.
The purpose of this examine is to current a 20-year expertise within the prognosis and scientific course of sufferers with EAS in a single Scientific Centre in Southern Poland in addition to a comparability of scientific course and outcomes relying on the supply of ectopic ACTH production-especially neuroendocrine tumors with different neoplasms.
Strategies: Twenty-four sufferers have been concerned within the scientific examine with EAS identified on the Division of Endocrinology between years 2000 and 2018. The prognosis of EAS was based mostly on the scientific presentation, hypercortisolemia with excessive ACTH ranges, excessive dose dexamethasone suppression take a look at and/or corticotropin-releasing hormone exams. To search out the supply of ACTH numerous imaging research have been carried out.
Outcomes: Half of the sufferers have been identified with neuroendocrine tumors, whereby muscle weak spot was the main symptom. Typical cushingoid look was seen in merely a couple of sufferers, and weight reduction was extra widespread than weight achieve. Sufferers with neuroendocrine tumors had considerably greater midnight cortisol ranges than the remainder of the group.
Amongst sufferers with infections, we noticed a considerably greater concentrations of cortisol 2400 ranges in gastroenteropancreatic neuroendocrine tumors. Chromogranin A correlated considerably with potassium in sufferers with neuroendocrine tumors and there was a big correlation between ACTH degree and severity of hypokalemia.
Conclusion: EAS just isn’t widespread, but when it happens it will increase the mortality of sufferers; subsequently, it ought to be considered within the case of coexistence of extreme hypokalemia with hypertension and muscle weak spot, particularly when weight reduction happens. As a result of the prognosis of gastroenteropancreatic neuroendocrine tumor worsens the prognosis-special consideration ought to be paid to those sufferers.
