INSTAND 785
Neugeborenen-Screening
Exam
,Multiple-choice questions
Question 1
Which choice restores the intended meaning of the following description?
Aminosäurestoffwechselstörungen (Amino Acid Disorders) — Quantifizierung von Phenylalanin (Phe) und
Bestimmung des Phe/Tyr-Verhältnisses mittels Tandem-Massenspektrometrie (____)
A. MMA
B. TSH
C. MS/MS
D. TREC
Correct Answer: C
Full Explanation: Aminosäurestoffwechselstörungen (Amino Acid Disorders): Quantifizierung von
Phenylalanin (Phe) und Bestimmung des Phe/Tyr-Verhältnisses mittels Tandem-Massenspektrometrie
(MS/MS). The required expression is “MS/MS”; it completes the specific association described, rather than
substituting a different concept.
Question 2
Which identifier or technical expression completes the description?
Organoazidurien (Organic Acidemias) — Analyse von Propionylcarnitin (C3) sowie den Quotienten C3/C2 und
____
A. C5
B. C18-OH
C. C3/C16
D. C6
Correct Answer: C
Full Explanation: Organoazidurien (Organic Acidemias): Analyse von Propionylcarnitin (C3) sowie den
Quotienten C3/C2 und C3/C16. The required expression is “C3/C16”; it completes the specific association
described, rather than substituting a different concept.
Question 3
Which term correctly completes the following description?
CPT I- und ____: CACT-Mangel (Carnitin-Acylcarnitin-Translocase-Mangel)
A. freiem Carnitin
B. Weitere Defekte des Carnitinzyklus
C. Medium-Chain Acyl-CoA-Dehydrogenase-Mangel
D. CPT II-Mangel
Correct Answer: D
Full Explanation: CPT I- und CPT II-Mangel: CACT-Mangel (Carnitin-Acylcarnitin-Translocase-Mangel). The
required expression is “CPT II-Mangel”; it completes the specific association described, rather than
substituting a different concept.
Record 3819 2
,Multiple-choice questions
Question 4
Which choice restores the intended meaning of the following description?
Analytische Methoden und Qualitätsparameter im Ringversuch: ____ Trennverfahren (HPLC)
A. Adrenal
B. Molekulargenetischer
C. Molekulargenetische
D. Chromatographische
Correct Answer: D
Full Explanation: Analytische Methoden und Qualitätsparameter im Ringversuch: Chromatographische
Trennverfahren (HPLC). The required expression is “Chromatographische”; it completes the specific
association described, rather than substituting a different concept.
Question 5
Which choice supplies the missing concept in this description?
Aminosäurestoffwechselstörungen (Amino Acid Disorders) — Argininosuccinatlyase-Mangel (____ von
Argininosuccinat)
A. Quantifizierung
B. Stufen-Screening
C. Bestimmung
D. Quotientenbildung
Correct Answer: C
Full Explanation: Aminosäurestoffwechselstörungen (Amino Acid Disorders): Argininosuccinatlyase-Mangel
(Bestimmung von Argininosuccinat). The required expression is “Bestimmung”; it completes the specific
association described, rather than substituting a different concept.
Question 6
Which expression is needed to make this description accurate?
Mukoviszidose / Cystische Fibrose (CF) — Quantifizierung des Immunreaktiven ____ (IRT) im Trockenblut
mittels Immunoassay
A. Trypsins
B. häufiger
C. Verfahren
D. Biochemisches
Correct Answer: A
Full Explanation: Mukoviszidose / Cystische Fibrose (CF): Quantifizierung des Immunreaktiven Trypsins
(IRT) im Trockenblut mittels Immunoassay. The required expression is “Trypsins”; it completes the specific
association described, rather than substituting a different concept.
Record 3819 3
, Multiple-choice questions
Question 7
Which choice restores the intended meaning of the following description?
Aminosäurestoffwechselstörungen (Amino Acid Disorders) — Tyrosinämie (____ I, II, III)
A. Citrullinämie
B. Typ
C. Disease
D. CBS-Mangel
Correct Answer: B
Full Explanation: Aminosäurestoffwechselstörungen (Amino Acid Disorders): Tyrosinämie (Typ I, II, III). The
required expression is “Typ”; it completes the specific association described, rather than substituting a
different concept.
Question 8
Complete this statement by selecting the most appropriate term.
Aminosäurestoffwechselstörungen (Amino Acid Disorders) — ____ (CBS-Mangel) und Hypermethioninämien
A. Hyperphenylalaninämien
B. Harnstoffzyklusdefekte
C. Valin
D. Homozystinurie
Correct Answer: D
Full Explanation: Aminosäurestoffwechselstörungen (Amino Acid Disorders): Homozystinurie (CBS-Mangel)
und Hypermethioninämien. The required expression is “Homozystinurie”; it completes the specific
association described, rather than substituting a different concept.
Question 9
A proposed description contains an incorrect bracketed expression. Which replacement makes the
description accurate?
Analytische Methoden und Qualitätsparameter im Ringversuch: [Qualitäts- und Validierungsparameter]
(HPLC)
A. Chromatographische Trennverfahren
B. Qualitäts- und Validierungsparameter
C. LC-MS/MS, FIA-MS/MS
D. Analytische Hämoglobin-Diagnostik
Correct Answer: A
Full Explanation: Analytische Methoden und Qualitätsparameter im Ringversuch: Chromatographische
Trennverfahren (HPLC). The required expression is “Chromatographische Trennverfahren”; it completes the
specific association described, rather than substituting a different concept.
Record 3819 4
Neugeborenen-Screening
Exam
,Multiple-choice questions
Question 1
Which choice restores the intended meaning of the following description?
Aminosäurestoffwechselstörungen (Amino Acid Disorders) — Quantifizierung von Phenylalanin (Phe) und
Bestimmung des Phe/Tyr-Verhältnisses mittels Tandem-Massenspektrometrie (____)
A. MMA
B. TSH
C. MS/MS
D. TREC
Correct Answer: C
Full Explanation: Aminosäurestoffwechselstörungen (Amino Acid Disorders): Quantifizierung von
Phenylalanin (Phe) und Bestimmung des Phe/Tyr-Verhältnisses mittels Tandem-Massenspektrometrie
(MS/MS). The required expression is “MS/MS”; it completes the specific association described, rather than
substituting a different concept.
Question 2
Which identifier or technical expression completes the description?
Organoazidurien (Organic Acidemias) — Analyse von Propionylcarnitin (C3) sowie den Quotienten C3/C2 und
____
A. C5
B. C18-OH
C. C3/C16
D. C6
Correct Answer: C
Full Explanation: Organoazidurien (Organic Acidemias): Analyse von Propionylcarnitin (C3) sowie den
Quotienten C3/C2 und C3/C16. The required expression is “C3/C16”; it completes the specific association
described, rather than substituting a different concept.
Question 3
Which term correctly completes the following description?
CPT I- und ____: CACT-Mangel (Carnitin-Acylcarnitin-Translocase-Mangel)
A. freiem Carnitin
B. Weitere Defekte des Carnitinzyklus
C. Medium-Chain Acyl-CoA-Dehydrogenase-Mangel
D. CPT II-Mangel
Correct Answer: D
Full Explanation: CPT I- und CPT II-Mangel: CACT-Mangel (Carnitin-Acylcarnitin-Translocase-Mangel). The
required expression is “CPT II-Mangel”; it completes the specific association described, rather than
substituting a different concept.
Record 3819 2
,Multiple-choice questions
Question 4
Which choice restores the intended meaning of the following description?
Analytische Methoden und Qualitätsparameter im Ringversuch: ____ Trennverfahren (HPLC)
A. Adrenal
B. Molekulargenetischer
C. Molekulargenetische
D. Chromatographische
Correct Answer: D
Full Explanation: Analytische Methoden und Qualitätsparameter im Ringversuch: Chromatographische
Trennverfahren (HPLC). The required expression is “Chromatographische”; it completes the specific
association described, rather than substituting a different concept.
Question 5
Which choice supplies the missing concept in this description?
Aminosäurestoffwechselstörungen (Amino Acid Disorders) — Argininosuccinatlyase-Mangel (____ von
Argininosuccinat)
A. Quantifizierung
B. Stufen-Screening
C. Bestimmung
D. Quotientenbildung
Correct Answer: C
Full Explanation: Aminosäurestoffwechselstörungen (Amino Acid Disorders): Argininosuccinatlyase-Mangel
(Bestimmung von Argininosuccinat). The required expression is “Bestimmung”; it completes the specific
association described, rather than substituting a different concept.
Question 6
Which expression is needed to make this description accurate?
Mukoviszidose / Cystische Fibrose (CF) — Quantifizierung des Immunreaktiven ____ (IRT) im Trockenblut
mittels Immunoassay
A. Trypsins
B. häufiger
C. Verfahren
D. Biochemisches
Correct Answer: A
Full Explanation: Mukoviszidose / Cystische Fibrose (CF): Quantifizierung des Immunreaktiven Trypsins
(IRT) im Trockenblut mittels Immunoassay. The required expression is “Trypsins”; it completes the specific
association described, rather than substituting a different concept.
Record 3819 3
, Multiple-choice questions
Question 7
Which choice restores the intended meaning of the following description?
Aminosäurestoffwechselstörungen (Amino Acid Disorders) — Tyrosinämie (____ I, II, III)
A. Citrullinämie
B. Typ
C. Disease
D. CBS-Mangel
Correct Answer: B
Full Explanation: Aminosäurestoffwechselstörungen (Amino Acid Disorders): Tyrosinämie (Typ I, II, III). The
required expression is “Typ”; it completes the specific association described, rather than substituting a
different concept.
Question 8
Complete this statement by selecting the most appropriate term.
Aminosäurestoffwechselstörungen (Amino Acid Disorders) — ____ (CBS-Mangel) und Hypermethioninämien
A. Hyperphenylalaninämien
B. Harnstoffzyklusdefekte
C. Valin
D. Homozystinurie
Correct Answer: D
Full Explanation: Aminosäurestoffwechselstörungen (Amino Acid Disorders): Homozystinurie (CBS-Mangel)
und Hypermethioninämien. The required expression is “Homozystinurie”; it completes the specific
association described, rather than substituting a different concept.
Question 9
A proposed description contains an incorrect bracketed expression. Which replacement makes the
description accurate?
Analytische Methoden und Qualitätsparameter im Ringversuch: [Qualitäts- und Validierungsparameter]
(HPLC)
A. Chromatographische Trennverfahren
B. Qualitäts- und Validierungsparameter
C. LC-MS/MS, FIA-MS/MS
D. Analytische Hämoglobin-Diagnostik
Correct Answer: A
Full Explanation: Analytische Methoden und Qualitätsparameter im Ringversuch: Chromatographische
Trennverfahren (HPLC). The required expression is “Chromatographische Trennverfahren”; it completes the
specific association described, rather than substituting a different concept.
Record 3819 4
