The Course of Biotinidase Activities After Neonatal Period in The Screened Newborns and Consequences of The Concordance With Their Genotypes.

Mapping Intimacies ◽

10.21203/rs.3.rs-1004063/v1 ◽

2021 ◽

Author(s):

Murat Karaoglan ◽

Gulper Nacarkahya ◽

Emel hatun Aytac ◽

Mehmet Keskin

Keyword(s):

Enzyme Activity ◽

Neonatal Period ◽

Treatment Decision ◽

Activity Level ◽

Biochemical Phenotype ◽

Activity Measurements ◽

Long Term Follow Up

Abstract Background/aim: Biotinidase deficiency (BTD) is characterized by broad genotypic variants and unsteady biotinidase activity. Increasing enzyme activity and maturation throughout childhood. This study aims to reveal the course of biotinidase activities in a long-term follow-up period and concordance with their genotypes .Participants/Methods: A total of 1,773 biotinidase enzyme (BT) activity measurements were performed in 711 newborns with variants in the BTD gene over a 4-year follow-up period. Biochemical phenotyping was classified into four groups based on the highest measured enzyme activity level during the follow-up: Profound(≤10%), Partial(10.1-30%), Heterozygous(30.1-66.5%), and Normal(>66.6%). Results: The number of participants with BTD in the biochemical phenotype groups assigned based on the first measurement was 59, 217, 314, and 121 in the profound, partial, heterozygous, and normal groups respectively. Based on the highest measurement value during follow-up, the number and net changes of participants in groups were 22(-37), 95(-122), 333(+19), and 261(+140), respectively. The overall concordance between genotypes and biotinidase activities based on the highest measurement was 50.7%. A moderate correlation was found between the highest enzyme value and age (r=-0.573, p=0.002) in heterozygous plus normal biochemical phenotype groups in first months.Conclusion:This study shows that the biotinidase activities increase at a later age after neonatal period during long-term follow-up, and there is low concordance between the biochemical phenotype and their genotype. These findings indicate the important role of the monitoring the course of biotinidase enzyme activities for a longer period of time to determine the treatment decision.

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Abusive head trauma (AHT) outcome at long-term follow-up and the role of elective neurosurgical approach: A report of 22 cases

PsycEXTRA Dataset ◽

10.1037/e578482014-165 ◽

2013 ◽

Author(s):

Francesca Menegazzo ◽

Melissa Rosa Rizzotto ◽

Martina Bua ◽

Luisa Pinello ◽

Elisabetta Tono ◽

...

Keyword(s):

Head Trauma ◽

Abusive Head Trauma ◽

Long Term Follow Up

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Severe tricuspid regurgitation 14 years after diagnosis of “transient neonatal tricuspid regurgitation”

Heart ◽

10.1136/hrt.86.1.88 ◽

2001 ◽

Vol 86 (1) ◽

pp. 88-90

Author(s):

D Boshoff ◽

L Mertens ◽

M Gewillig

Keyword(s):

Tricuspid Regurgitation ◽

Neonatal Period ◽

Clinical Course ◽

Subsequent Evolution ◽

Severe Tricuspid Regurgitation ◽

Echocardiographic Examination ◽

Long Term Follow Up ◽

Transient Tricuspid Regurgitation

A 14 year old girl presented with severe tricuspid regurgitation after she was diagnosed with “transient tricuspid regurgitation of the newborn”. In the neonatal period she had presented with severe tricuspid regurgitation without an obvious underlying anatomical cause. This spontaneously regressed during the first months of life. She was dismissed from follow up at the age of 5 years after complete normalisation of the clinical and echocardiographic examination. The subsequent evolution and management of the patient, as well as the possible pathogenesis responsible for the unusual clinical course, is discussed. This case stresses the importance of long term follow up of patients with transient tricuspid regurgitation.

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Prognostic role of neoplastic markers in Takotsubo syndrome

Scientific Reports ◽

10.1038/s41598-021-95990-9 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Francesco Santoro ◽

Tecla Zimotti ◽

Adriana Mallardi ◽

Alessandra Leopizzi ◽

Enrica Vitale ◽

...

Keyword(s):

Serum Levels ◽

Takotsubo Syndrome ◽

Ca 15.3 ◽

Risk Of Death ◽

Increased Risk ◽

Ca 19.9 ◽

Long Term Follow Up

AbstractTakotsubo syndrome (TTS) is an acute heart failure syndrome with significant rates of in and out-of-hospital mayor cardiac adverse events (MACE). To evaluate the possible role of neoplastic biomarkers [CA-15.3, CA-19.9 and Carcinoembryonic Antigen (CEA)] as prognostic marker at short- and long-term follow-up in subjects with TTS. Ninety consecutive subjects with TTS were enrolled and followed for a median of 3 years. Circulating levels of CA-15.3, CA-19.9 and CEA were evaluated at admission, after 72 h and at discharge. Incidence of MACE during hospitalization and follow-up were recorded. Forty-three (46%) patients experienced MACE during hospitalization. These patients had increased admission levels of CEA (4.3 ± 6.2 vs. 2.2 ± 1.5 ng/mL, p = 0.03). CEA levels were higher in subjects with in-hospital MACE. At long term follow-up, CEA and CA-19.9 levels were associated with increased risk of death (log rank p < 0.01, HR = 5.3, 95% CI 1.9–14.8, HR = 7.8 95% CI 2.4–25.1, respectively, p < 0.01). At multivariable analysis levels higher than median of CEA, CA-19.9 or both were independent predictors of death at long term (Log-Rank p < 0.01). Having both CEA and CA-19.9 levels above median (> 2 ng/mL, > 8 UI/mL respectively) was associated with an increased risk of mortality of 11.8 (95% CI 2.6–52.5, p = 0.001) at follow up. Increased CEA and CA-19.9 serum levels are associated with higher risk of death at long-term follow up in patients with TTS. CEA serum levels are correlated with in-hospital MACE.

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