En tilgang til udfordringer i et travlt fosterdiagnostikcenter midt i en

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.
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Gamborg B5 Medium w/ CaCl2, Vitamins, Sucrose & CleriGelTM; w/

PT017G-5L 1 unit
EUR 9.73
Description: Gamborg B5 Medium w/ CaCl2, Vitamins, Sucrose & CleriGelTM; w/ CaCl2, Vitamins, Sucrose & CleriGelTM; w/ CaCl2, Vitamins, Sucrose & CleriGelTM; w/ CaCl2, Vitamins, Sucrose & CleriGelTM

Gamborg B5 Medium w/ CaCl2, Vitamins, Sucrose & Agar; w/ CaCl2,

PT017-10X1L 1 unit
EUR 17.94
Description: Gamborg B5 Medium w/ CaCl2, Vitamins, Sucrose & Agar; w/ CaCl2, Vitamins, Sucrose & Agar; w/ CaCl2, Vitamins, Sucrose & Agar; w/ CaCl2, Vitamins, Sucrose & Agar

Gamborg B5 Medium w/ CaCl2, Vitamins, Sucrose & Agar; w/ CaCl2,

PT017-25L 1 unit
EUR 28.74
Description: Gamborg B5 Medium w/ CaCl2, Vitamins, Sucrose & Agar; w/ CaCl2, Vitamins, Sucrose & Agar; w/ CaCl2, Vitamins, Sucrose & Agar; w/ CaCl2, Vitamins, Sucrose & Agar

Gamborg B5 Medium w/ CaCl2, Vitamins, Sucrose & Agar; w/ CaCl2,

PT017-5L 1 unit
EUR 7.8
Description: Gamborg B5 Medium w/ CaCl2, Vitamins, Sucrose & Agar; w/ CaCl2, Vitamins, Sucrose & Agar; w/ CaCl2, Vitamins, Sucrose & Agar; w/ CaCl2, Vitamins, Sucrose & Agar

Gamborg B5 Medium w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitam

PT016-100X1L 1 unit
EUR 85.44
Description: Gamborg B5 Medium w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitamins & Sucrose

Gamborg B5 Medium w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitam

PT016-10X1L 1 unit
EUR 10.65
Description: Gamborg B5 Medium w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitamins & Sucrose

Gamborg B5 Medium w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitam

PT016-25L 1 unit
EUR 21.81
Description: Gamborg B5 Medium w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitamins & Sucrose

Gamborg B5 Medium w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitam

PT016-5L 1 unit
EUR 6.39
Description: Gamborg B5 Medium w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitamins & Sucrose; w/ CaCl2, Vitamins & Sucrose

Murashige & Skoog/Gamborg (MG) Medium

30630206-2 25 L
EUR 28.19

Murashige & Skoog/Gamborg (MG) Medium

30630206-3 50 L
EUR 47.99

NB Medium;w/ CHU macroelements, Gamborg microelements, Gamborg

PT107-10X1L 1 unit
EUR 16.05
Description: NB Medium;w/ CHU macroelements, Gamborg microelements, Gamborg B5 vitamins &Sucrose;w/o Agar

NB Medium;w/ CHU macroelements, Gamborg microelements, Gamborg

PT107-25L 1 unit
EUR 23.93
Description: NB Medium;w/ CHU macroelements, Gamborg microelements, Gamborg B5 vitamins &Sucrose;w/o Agar

NB Medium;w/ CHU macroelements, Gamborg microelements, Gamborg

PT107-5L 1 unit
EUR 6.98
Description: NB Medium;w/ CHU macroelements, Gamborg microelements, Gamborg B5 vitamins &Sucrose;w/o Agar

Murashige and Skoog (MS) Medium, w/ Gamborg B5 Vitamins

30630059-2 25 L
EUR 22.1

Murashige and Skoog (MS) Medium, w/ Gamborg B5 Vitamins

30630059-3 50 L
EUR 43.43

Murashige & Skoog Modified Medium w/ CaCl2 & Gamborg B5 vitamin

PT025-100X1L 1 unit
EUR 80.14
Description: Murashige & Skoog Modified Medium w/ CaCl2 & Gamborg B5 vitamins; w/ CaCl2 & Gamborg B5 vitamins; w/ CaCl2 & Gamborg B5 vitamins; w/ CaCl2 & Gamborg B5 vitamins

Murashige & Skoog Modified Medium w/ CaCl2 & Gamborg B5 vitamin

PT025-10X1L 1 unit
EUR 10.05
Description: Murashige & Skoog Modified Medium w/ CaCl2 & Gamborg B5 vitamins; w/ CaCl2 & Gamborg B5 vitamins; w/ CaCl2 & Gamborg B5 vitamins; w/ CaCl2 & Gamborg B5 vitamins

Murashige & Skoog Modified Medium w/ CaCl2 & Gamborg B5 vitamin

PT025-25L 1 unit
EUR 17.85
Description: Murashige & Skoog Modified Medium w/ CaCl2 & Gamborg B5 vitamins; w/ CaCl2 & Gamborg B5 vitamins; w/ CaCl2 & Gamborg B5 vitamins; w/ CaCl2 & Gamborg B5 vitamins

Murashige & Skoog Modified Medium w/ CaCl2 & Gamborg B5 vitamin

PT025-5L 1 unit
EUR 5.95
Description: Murashige & Skoog Modified Medium w/ CaCl2 & Gamborg B5 vitamins; w/ CaCl2 & Gamborg B5 vitamins; w/ CaCl2 & Gamborg B5 vitamins; w/ CaCl2 & Gamborg B5 vitamins

Murashige & Skoog Modified Medium;w/ CaCl₂, Gamborg B5 vitamins

PT114-10X1L 1 unit
EUR 15.85
Description: Murashige & Skoog Modified Medium;w/ CaCl₂, Gamborg B5 vitamins & Sucrose;w/o Agar

Murashige & Skoog Modified Medium;w/ CaCl₂, Gamborg B5 vitamins

PT114-25L 1 unit
EUR 23.84
Description: Murashige & Skoog Modified Medium;w/ CaCl₂, Gamborg B5 vitamins & Sucrose;w/o Agar

Murashige & Skoog Modified Medium;w/ CaCl₂, Gamborg B5 vitamins

PT114-5L 1 unit
EUR 6.89
Description: Murashige & Skoog Modified Medium;w/ CaCl₂, Gamborg B5 vitamins & Sucrose;w/o Agar

Gamborg B-5 Basal Medium (Powder)

MBS652852-10x30g 10x30g
EUR 310

Gamborg B-5 Basal Medium (Powder)

MBS652852-5x30g 5x30g
EUR 215

MS BASAL MEDIUM w/ GAMBORG VITAMINS

M404 100L
EUR 29.84

Gamborg's B-5 Medium

CP009-010 10X1L
EUR 118.8

Gamborg's B-5 Medium

CP009-500 50L
EUR 151.2

Gamborg B5 Macroelements

TS1054-10L 1 unit
EUR 3.64
Description: Gamborg B5 Macroelements

Gamborg B5 Macroelements

TS1054-25L 1 unit
EUR 7.74
Description: Gamborg B5 Macroelements

Gamborg B5 Vitamin Mix

30630027-1 100 mL
EUR 32.46

Gamborg's B-5 Medium; With Vitamins

CP011-010 10X1L
EUR 121.2

Gamborg's B-5 Medium; With Vitamins

CP011-500 50L
EUR 151.2

Gamborg's B-5 Long Medium

CP013-010 10X1L
EUR 135.6

Gamborg's B-5 Long Medium

CP013-100 10L
EUR 121.2

Gamborg's B-5 Medium; With 20g/L Sucrose

CP010-010 10X1L
EUR 124.8

Gamborg's B-5 Medium; With 20g/L Sucrose

CP010-500 50L
EUR 141.6

Gamborg's B-5 Medium; With Vitamins and Sucrose

CP012-010 10X1L
EUR 124.8

Gamborg's B-5 Medium; With Vitamins and Sucrose

CP012-500 50L
EUR 151.2

Gamborg B5 Basal Solution (10X)

PL027-2X500ML 1 unit
EUR 81.42
Description: Gamborg B5 Basal Solution (10X)

Gamborg B5 Basal Solution (10X)

PL027-5X100ML 1 unit
EUR 50.97
Description: Gamborg B5 Basal Solution (10X)

Gamborg B5 Plant Salt Mixture

TS1014-5L 1 unit
EUR 4.46
Description: Gamborg B5 Plant Salt Mixture

Gamborg B5 Vitamins Solution (1000X)

PL018-1X50ML 1 unit
EUR 16.44
Description: Gamborg B5 Vitamins Solution (1000X)

Gamborg B5 Vitamins Solution (1000X)

PL018-5X50ML 1 unit
EUR 70.53
Description: Gamborg B5 Vitamins Solution (1000X)

Gamborg B5 Macroelements Solution (10X)

PL003-1X100ML 1 unit
EUR 49.71
Description: Gamborg B5 Macroelements Solution (10X)

Gamborg B5 Macroelements Solution (10X)

PL003-2X500ML 1 unit
EUR 223.13
Description: Gamborg B5 Macroelements Solution (10X)

Gamborg B5 Microelements Solution (100X)

PL004-1X100ML 1 unit
EUR 47.62
Description: Gamborg B5 Microelements Solution (100X)

Gamborg B5 Microelements Solution (100X)

PL004-5X100ML 1 unit
EUR 202.72
Description: Gamborg B5 Microelements Solution (100X)

Gamborg B5 / Kao Michayluk Microelements (100X)

TS1053-1VL 1 unit
EUR 7.91
Description: Gamborg B5 / Kao Michayluk Microelements (100X)

Gamborg B5 / Kao Michayluk Microelements (100X)

TS1053-5VL 1 unit
EUR 36.01
Description: Gamborg B5 / Kao Michayluk Microelements (100X)

Gamborg B5 Vitamin Concentrate (Syringe Vials)

30630026-1 100 mL
EUR 43.46

GAMBORG BASAL SALT MIXTURE

G768 100L
EUR 31.63

Gamborg's Vitamin Stcks, Liquid

CP049-010 125 ml bottle
EUR 128.4

Murashige and Skoog, With Gamborg's Vitamins

CP029-010 10X1L
EUR 135.6

Murashige and Skoog, With Gamborg's Vitamins

CP029-500 50L
EUR 165.6

BAT Medium (Alicyclobacillus Medium)

M1561-500G 1 unit
EUR 43.27
Description: BAT Medium (Alicyclobacillus Medium)

Cooked M Medium (R.C. Medium)

M149-100G 1 unit
EUR 27.32
Description: Cooked M Medium (R.C. Medium)

Cooked M Medium (R.C. Medium)

M149-500G 1 unit
EUR 130.49
Description: Cooked M Medium (R.C. Medium)

Lowenstein - Jensen Medium (L.J. Medium)

MM162-100G 1 unit
EUR 12.1
Description: Lowenstein - Jensen Medium (L.J. Medium)

Lowenstein - Jensen Medium (L.J. Medium)

MM162-500G 1 unit
EUR 34.85
Description: Lowenstein - Jensen Medium (L.J. Medium)

ATCC Medium 1754: PETC Medium (Tetra Pac

M2104-500G 1 unit
EUR 63.72
Description: ATCC Medium 1754: PETC Medium (Tetra Pac

Human iPS Growth Medium (PSGro Medium)

TBS8023 500 mL
EUR 189

Medium 199

C0012-01 RT 500 mL Bottle
EUR 34

Medium 199

MBS2557648-10L 10L
EUR 165

Medium 199

MBS2557648-50L 50L
EUR 345

Medium 199

MBS2557648-5L 5L
EUR 150

Medium 199

MBS2557648-5x50L 5x50L
EUR 1060

HS Medium (Hydrosulphite of Sodium Medium)

77707 100 Gms
EUR 7.7
Description: Part D

HS Medium (Hydrosulphite of Sodium Medium)

77707-1 500 Gms
EUR 25.66
Description: Part D

SIM Medium (Sulfite Indole Motility Medium)

49810 100 Gms
EUR 6.84
Description: Part D

SIM Medium (Sulfite Indole Motility Medium)

49810-1 500 Gms
EUR 27.37
Description: Part D

Listeria Enrichment Medium Base (UVM Medium)

28685 100 Gms
EUR 11.97
Description: Part D

Listeria Enrichment Medium Base (UVM Medium)

28685-1 500 Gms
EUR 54.74
Description: Part D

MlO Medium (Motility Indole Ornithine Medium)

88736 100 Gms
EUR 7.7
Description: Part D

MlO Medium (Motility Indole Ornithine Medium)

88736-1 500 Gms
EUR 31.64
Description: Part D

Phyto Proteose Agar Medium Base 
(KB Medium)

PHM008-100G 1 unit
EUR 13.81
Description: Phyto Proteose Agar Medium Base 
(KB Medium)

Phyto Proteose Agar Medium Base 
(KB Medium)

PHM008-500G 1 unit
EUR 60.56
Description: Phyto Proteose Agar Medium Base 
(KB Medium)

MIU Medium Base (Motility Indole Urea Medium)

16309 100 Gms
EUR 9.41
Description: Part D

MIU Medium Base (Motility Indole Urea Medium)

16309-1 500 Gms
EUR 35.07
Description: Part D

EC MEDIUM

E05-100-10kg 10 kg
EUR 976.8

EC MEDIUM

E05-100-2Kg 2 Kg
EUR 259.2

EC MEDIUM

E05-100-500g 500 g
EUR 114

DC MEDIUM

D04-117-10kg 10 kg
EUR 1894.8

DC MEDIUM

D04-117-2kg 2kg
EUR 458.4

DC MEDIUM

D04-117-500g 500 g
EUR 168

A Medium

DJ1018 100g
EUR 101.76

VP Medium

M662-500G 1 unit
EUR 52.25
Description: VP Medium

E.T. Medium

M854-500G 1 unit
EUR 36.34
Description: E.T. Medium

E.T. Medium

M854-5KG 1 unit
EUR 355.04
Description: E.T. Medium

HS Medium

M245-500G 1 unit
EUR 34.73
Description: HS Medium

X6 MEDIUM

X8458 10L
EUR 30.71

M9 Medium

SD7024 250g
EUR 86.1

YM Medium

SD7031 250g
EUR 84.54

LB Medium

TBS8056 1L
EUR 36

OF Medium - 500G

MED1664 500G
EUR 89.1

NLN Medium

30630102-2 25 L
EUR 19.28

NLN Medium

30630102-3 50 L
EUR 39.2

TAP Medium

30639002-1 100 g
EUR 48.32

TAP Medium

30639002-2 500 g
EUR 200.66

RWC Medium

M500-100G 1 unit
EUR 15.93
Description: RWC Medium

RWC Medium

M500-500G 1 unit
EUR 43.27
Description: RWC Medium

PNY Medium

M835-100G 1 unit
EUR 34.17
Description: PNY Medium

PNY Medium

M835-500G 1 unit
EUR 103.52
Description: PNY Medium

SIM Medium

M181-100G 1 unit
EUR 12.27
Description: SIM Medium

SIM Medium

M181-500G 1 unit
EUR 35.37
Description: SIM Medium

AKI Medium

M1879-500G 1 unit
EUR 36.24
Description: AKI Medium

MIU Medium

LQ092-25X10ML 1 unit
EUR 14.98
Description: MIU Medium

MIU Medium

LQ092-50X10ML 1 unit
EUR 24.33
Description: MIU Medium

SIM Medium

GM181-500G 1 unit
EUR 40.65
Description: SIM Medium

YEP MEDIUM

Y889 1L
EUR 75.28

HLP MEDIUM

H08-107-10kg 10 kg
EUR 2733.6

HLP MEDIUM

H08-107-2Kg 2 Kg
EUR 640.8

HLP MEDIUM

H08-107-500g 500 g
EUR 218.4

SIM MEDIUM

S19-110-10kg 10 kg
EUR 1225.2

SIM MEDIUM

S19-110-2kg 2kg
EUR 313.2

SIM MEDIUM

S19-110-500g 500 g
EUR 128.4

SOB MEDIUM

S19-124-10kg 10 kg
EUR 1158

SOB MEDIUM

S19-124-2kg 2kg
EUR 298.8

SOB MEDIUM

S19-124-500g 500 g
EUR 124.8

M63 Medium

SD7033 250g
EUR 86.1

MSC Medium

TBS8021 500 mL
EUR 245

SOB Medium

TBS8057 1L
EUR 45

SOC Medium

TBS8058 100 mL
EUR 35

RM-01 Refeed Medium (zero-Serum Refeed medium)

10-310100 100 mL Ask for price
Description: A defined medium with EMEM with EBSS, and Glutamine. Sterile.

VALI Medium

0450 500 ml
EUR 177.1

BEGM Medium

0451 500 ml
EUR 89.6

TM4G Medium

30630177-2 25 L
EUR 22.1

TM4G Medium

30630177-3 50 L
EUR 41.14

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.
 
 

Homozygot sletning af CDKN2A i ondartet lungehindekræft: Diagnostisk nytte, patientkarakteristika og overlevelse i et britisk lungehindecenter

Background: Detection of homozygous deletion of the p16 gene (CDKN2A) by fluorescence in situ hybridization (FISH) has been investigated as an ancillary approach within the prognosis of malignant mesothelioma.
Technique: This retrospective examine reviewed the outcomes of all p16 FISH exams carried out at a regional mesothelioma centre from February 2012 to November 2019 in instances of attainable mesothelioma to look at the diagnostic utility of this take a look at in addition to sufferers traits and survival in p16 FISH constructive mesothelioma versus p16 FISH unfavourable mesothelioma.
Outcomes: P16 FISH testing was requested in 216 pathological samples within the examine interval. The take a look at failure charge was 4% (10/216). Median time from request to end result was 10 days (IQR 7-13, vary 1-30). The sensitivity, specificity, NPV and PPV have been 60 %, 100 %, 39 % and 100 % respectively.
There have been no false constructive outcomes and this genetic aberration was solely detected in instances of mesothelioma. The prevalence of p16 FISH constructive mesothelioma was greater in cytological specimens in comparison with histological specimens (75 % vs 58 %, p = 0.03) and decrease in ladies in comparison with males (33 % vs 66 %, p = 0.003).
P16 FISH constructive mesothelioma was related to considerably worse survival (median total survival 285 vs 339 days, p = 0.0018). This remained important after adjusting for confounding variables (OR 4.4, 95 %CI 1.84-11.14, p = 0.001).
Conclusions: On this examine, 60 % of mesotheliomas harbour a homozygous deletion of CDKN2A and will be precisely, reliably and effectively recognized by p16 FISH testing. This take a look at will be embedded inside routine follow in mesothelioma pathways to reinforce diagnostic accuracy.
Key phrases: CDKN2A; Mesothelioma; p16 FISH.
 
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