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Détails du magazine
Format
Magazine
eISSN
1875-855X
Première publication
01 Jun 2007
Période de publication
6 fois par an
Langues
Anglais

Chercher

Volume 14 (2020): Edition 2 (April 2020)

Détails du magazine
Format
Magazine
eISSN
1875-855X
Première publication
01 Jun 2007
Période de publication
6 fois par an
Langues
Anglais

Chercher

6 Articles

Editorial

Accès libre

Watchful waiting in cases of breast milk jaundice in newborns

Publié en ligne: 04 Aug 2020
Pages: 1 - 1

Résumé

Review

Accès libre

Functional variations of NFKB1 and NFKB1A in inflammatory disorders and their implication for therapeutic approaches

Publié en ligne: 04 Aug 2020
Pages: 47 - 57

Résumé

Abstract

Nuclear factor κ-light-chain-enhancer of activated B cells (NF-κB) is a sophisticated transcription factor that is particularly important in the inflammatory response, but it regulates more than 400 individual and dependent genes for parts of the apoptotic, angiogenic, and proliferative, differentiative, and cell adhesion pathways. NF-κB function is directly inhibited by the binding of inhibitor of κB (IκB), and the imbalance between NF-κB and IκB has been linked to the development and progression of cancer and a variety of inflammatory disorders. These observations might broaden the horizon of current knowledge, particularly on the pathogenesis of inflammatory diseases considering the roles of NF-κB and IκB. In this context, we focus this narrative review on a comparative discussion of our findings with other literature regarding variations of NFKB1 and NFKB1A and their association with susceptibility to widespread inflammatory disorders (such as atherosclerosis, morbid obesity, Behçet syndrome, Graves disease, Hashimoto disease) and common cancers (such as gliomas).

Mots clés

  • I-kappa B proteins
  • inflammation mediators
  • neoplasms
  • NF-kappa B
  • polymorphism
  • single nucleotide

Original article

Accès libre

Plasma amino acid levels in a cohort of patients in Turkey with classical phenylketonuria

Publié en ligne: 04 Aug 2020
Pages: 59 - 65

Résumé

AbstractBackground

In patients with phenylketonuria, the central nervous system is adversely affected by noncompliance with diet. The levels of phenylalanine and many different amino acids (AAs) in the plasma of patients with phenylketonuria can be measured simultaneously.

Objectives

To measure the blood plasma levels of neurotransmitter AAs in a cohort of patients in Sanliurfa province, Turkey, with phenylketonuria for use as a support parameter for the follow-up of patients.

Methods

The phenylketonurics that we followed (n = 100) were divided into 2 groups according to their compliance with their dietary treatment. Plasma AA analysis results of phenylketonurics were compared with those of healthy children in a control group (n = 50).

Results

In the diet incompliant group (n = 56), the mean levels of γ-aminobutyric acid (GABA; 0.96 ± 1.07 μmol/L) and glycine (305.1 ± 105.19 μmol/L) were significantly higher than those in the diet compliant group (n = 44; GABA P = 0.005, glycine P < 0.001) and in the control group (GABA and glycine P < 0.001), whereas the mean levels of glutamic acid (39.01 ± 22.94 μmol/L) and asparagine (39.3 ± 16.89 μmol/L) were lower (P < 0.001) in the diet incompliant group. A positive correlation was observed between the levels of phenylalanine and GABA and glycine. A negative relationship was found between the levels of phenylalanine and glutamic acid and asparagine.

Conclusions

A relationship exists between the levels of plasma phenylalanine in a cohort of phenylketonurics in Sanliurfa province, Turkey, and the levels of some excitatory and inhibitory AAs. Excitatory and inhibitory AA levels in plasma may be used as support parameters in the follow-up of patients with phenylketonuria.

Mots clés

  • amino acids
  • chromatography
  • diet therapy
  • neurotransmitter agents
  • phenylketonuria

Brief communication (original)

Accès libre

Prevalence and time course of elevated serum levels of liver enzymes in otherwise healthy Thai infants with breast milk jaundice: a cohort study

Publié en ligne: 04 Aug 2020
Pages: 67 - 73

Résumé

AbstractBackground

Neonatal jaundice and elevated levels of liver enzymes are found in infants with breast milk jaundice (BMJ).

Objectives

To determine the prevalence and duration of elevated serum levels of liver enzymes in Thai infants with BMJ.

Methods

We conducted a prospective study of Thai infants with BMJ, excluding those with pathological causes of jaundice. We measured the serum levels of total bilirubin (TB), aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), and γ-glutamyl transferase (GGT); followed infants with elevated levels; and estimated the time for levels to become normal using Kaplan–Meier analysis.

Results

We included 42 infants (median age: 17.5 days) with BMJ, and elevated serum levels of at least 1 enzyme were found in 27 (64%) infants. We excluded 4 (10%) infants because they did not continue to be exclusively breastfed, 17 (40%) were lost to follow-up, and 21 (50%) completed the study. We found that 19 (45%) of the 42 infants had elevated GGT, 11 (26%) had elevated ALT, and 9 (21%) each had elevated AST and ALP levels. The median time for enzyme levels to normalize was 291 days (95% confidence interval [CI], 109.8 to 472.2) for ALT, 240 days (95% CI, 139.0 to 340.9) for AST, 184 days (95% CI, 4.4 to 363.6) for ALP, 120 days (95% CI, 74.6 to 164.5) for TB, and 63 days (95% CI, 61.44 to 64.6) for GGT. Infants were otherwise healthy during the follow-up.

Conclusion

The prevalence of elevated serum levels of liver enzymes in Thai infants was unexpectedly high, but the levels became normal spontaneously despite continued breastfeeding, which endorses a “watchful waiting” strategy in managing asymptomatic infants with BMJ.

Mots clés

  • breastfeeding
  • hyperbilirubinemia
  • neonatal
  • jaundice
  • neonatal
  • liver function tests
  • Thai
Accès libre

Epidermal growth factor receptor variants in patients from Myanmar with lung adenocarcinoma

Publié en ligne: 04 Aug 2020
Pages: 75 - 81

Résumé

AbstractBackground

Epidermal growth factor receptor (EGFR) sequence variants in patients from Myanmar have not yet been reported.

Objectives

To describe the molecular epidemiology of EGFR variants in patients from Myanmar with lung adenocarcinoma.

Methods

Histological diagnosis and categorization of biopsies collected from 66 patients (28–78 years) with lung cancer was conducted using a panel of antibodies including those to: TTF1, P40, synaptophysin, CK7, and napsin-A. Samples from patients with confirmed adenocarcinoma were tested for EGFR variants using a cobas EGFR Mutation Test kit and cobas z 480 System (Roche). We conducted a univariate analysis of categorical factors using a χ2 or Fisher exact test.

Results

Histological types were adenocarcinoma (61%, 40/66), squamous cell carcinoma (24%, 16/66), neuroendocrine carcinoma (9%, 6/66), undifferentiated carcinoma (2%, 1/66), adenosquamous carcinoma (2%, 1/66), small cell anaplastic carcinoma (2%, 1/66), and pleomorphic sarcoma (2%, 1/66). EGFR variants were detected in 15 of 40 (38%) cases of adenocarcinoma. Among them, 6 patients (40%) had an exon 19 deletion, another 6 (40%) had exon 21 substitutions, 1 (7%) had exon 20 insertion S768I, and 2 (13%) had compound variations (1 of exon 21 L858R and exon 18 G719X, and 1 of exon 20 S768I and exon 18 G719X). Although limited by small sample size, no significant association was found between the variants and factors including family cancer history, age group, sex, ethnicity, or occupation. However, there was a strong significant association between never-smokers and EGFR variants (P = 0.008).

Conclusion

Knowledge of EGFR variants in patients from Myanmar is encouraging for their effective cancer treatment.

Mots clés

  • adenocarcinoma of lung
  • EGFR protein
  • human
  • ErbB receptors
  • Myanmar
  • carcinoma
  • non-small-cell lung

Clinical vignette

Accès libre

Ablepharon macrostomia syndrome in a Thai patient: case report and literature review

Publié en ligne: 04 Aug 2020
Pages: 83 - 88

Résumé

Abstract

Ablepharon macrostomia syndrome (AMS) is a rare congenital disorder. To our knowledge, only 20 cases have been reported to date, and all in patients from Western countries. We report a case of AMS in a Thai patient, who presented at age 3 months with severe ectropion of both upper and lower eyelids, alopecia totalis, no palpable clitoris, and hypoplasia of both labia minora and labia majora. Trio whole exome sequencing analysis was performed, which revealed a heterozygous missense c.223G>A (p.Glu75Lys) variation in TWIST2. To our knowledge, this is the first reported case of AMS in a patient from Thailand and the first reported case of AMS in Asia.

Mots clés

  • ablepharon macrostomia syndrome
  • Barber Say syndrome
  • lagophthalmos
  • whole exome sequencing
6 Articles

Editorial

Accès libre

Watchful waiting in cases of breast milk jaundice in newborns

Publié en ligne: 04 Aug 2020
Pages: 1 - 1

Résumé

Review

Accès libre

Functional variations of NFKB1 and NFKB1A in inflammatory disorders and their implication for therapeutic approaches

Publié en ligne: 04 Aug 2020
Pages: 47 - 57

Résumé

Abstract

Nuclear factor κ-light-chain-enhancer of activated B cells (NF-κB) is a sophisticated transcription factor that is particularly important in the inflammatory response, but it regulates more than 400 individual and dependent genes for parts of the apoptotic, angiogenic, and proliferative, differentiative, and cell adhesion pathways. NF-κB function is directly inhibited by the binding of inhibitor of κB (IκB), and the imbalance between NF-κB and IκB has been linked to the development and progression of cancer and a variety of inflammatory disorders. These observations might broaden the horizon of current knowledge, particularly on the pathogenesis of inflammatory diseases considering the roles of NF-κB and IκB. In this context, we focus this narrative review on a comparative discussion of our findings with other literature regarding variations of NFKB1 and NFKB1A and their association with susceptibility to widespread inflammatory disorders (such as atherosclerosis, morbid obesity, Behçet syndrome, Graves disease, Hashimoto disease) and common cancers (such as gliomas).

Mots clés

  • I-kappa B proteins
  • inflammation mediators
  • neoplasms
  • NF-kappa B
  • polymorphism
  • single nucleotide

Original article

Accès libre

Plasma amino acid levels in a cohort of patients in Turkey with classical phenylketonuria

Publié en ligne: 04 Aug 2020
Pages: 59 - 65

Résumé

AbstractBackground

In patients with phenylketonuria, the central nervous system is adversely affected by noncompliance with diet. The levels of phenylalanine and many different amino acids (AAs) in the plasma of patients with phenylketonuria can be measured simultaneously.

Objectives

To measure the blood plasma levels of neurotransmitter AAs in a cohort of patients in Sanliurfa province, Turkey, with phenylketonuria for use as a support parameter for the follow-up of patients.

Methods

The phenylketonurics that we followed (n = 100) were divided into 2 groups according to their compliance with their dietary treatment. Plasma AA analysis results of phenylketonurics were compared with those of healthy children in a control group (n = 50).

Results

In the diet incompliant group (n = 56), the mean levels of γ-aminobutyric acid (GABA; 0.96 ± 1.07 μmol/L) and glycine (305.1 ± 105.19 μmol/L) were significantly higher than those in the diet compliant group (n = 44; GABA P = 0.005, glycine P < 0.001) and in the control group (GABA and glycine P < 0.001), whereas the mean levels of glutamic acid (39.01 ± 22.94 μmol/L) and asparagine (39.3 ± 16.89 μmol/L) were lower (P < 0.001) in the diet incompliant group. A positive correlation was observed between the levels of phenylalanine and GABA and glycine. A negative relationship was found between the levels of phenylalanine and glutamic acid and asparagine.

Conclusions

A relationship exists between the levels of plasma phenylalanine in a cohort of phenylketonurics in Sanliurfa province, Turkey, and the levels of some excitatory and inhibitory AAs. Excitatory and inhibitory AA levels in plasma may be used as support parameters in the follow-up of patients with phenylketonuria.

Mots clés

  • amino acids
  • chromatography
  • diet therapy
  • neurotransmitter agents
  • phenylketonuria

Brief communication (original)

Accès libre

Prevalence and time course of elevated serum levels of liver enzymes in otherwise healthy Thai infants with breast milk jaundice: a cohort study

Publié en ligne: 04 Aug 2020
Pages: 67 - 73

Résumé

AbstractBackground

Neonatal jaundice and elevated levels of liver enzymes are found in infants with breast milk jaundice (BMJ).

Objectives

To determine the prevalence and duration of elevated serum levels of liver enzymes in Thai infants with BMJ.

Methods

We conducted a prospective study of Thai infants with BMJ, excluding those with pathological causes of jaundice. We measured the serum levels of total bilirubin (TB), aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), and γ-glutamyl transferase (GGT); followed infants with elevated levels; and estimated the time for levels to become normal using Kaplan–Meier analysis.

Results

We included 42 infants (median age: 17.5 days) with BMJ, and elevated serum levels of at least 1 enzyme were found in 27 (64%) infants. We excluded 4 (10%) infants because they did not continue to be exclusively breastfed, 17 (40%) were lost to follow-up, and 21 (50%) completed the study. We found that 19 (45%) of the 42 infants had elevated GGT, 11 (26%) had elevated ALT, and 9 (21%) each had elevated AST and ALP levels. The median time for enzyme levels to normalize was 291 days (95% confidence interval [CI], 109.8 to 472.2) for ALT, 240 days (95% CI, 139.0 to 340.9) for AST, 184 days (95% CI, 4.4 to 363.6) for ALP, 120 days (95% CI, 74.6 to 164.5) for TB, and 63 days (95% CI, 61.44 to 64.6) for GGT. Infants were otherwise healthy during the follow-up.

Conclusion

The prevalence of elevated serum levels of liver enzymes in Thai infants was unexpectedly high, but the levels became normal spontaneously despite continued breastfeeding, which endorses a “watchful waiting” strategy in managing asymptomatic infants with BMJ.

Mots clés

  • breastfeeding
  • hyperbilirubinemia
  • neonatal
  • jaundice
  • neonatal
  • liver function tests
  • Thai
Accès libre

Epidermal growth factor receptor variants in patients from Myanmar with lung adenocarcinoma

Publié en ligne: 04 Aug 2020
Pages: 75 - 81

Résumé

AbstractBackground

Epidermal growth factor receptor (EGFR) sequence variants in patients from Myanmar have not yet been reported.

Objectives

To describe the molecular epidemiology of EGFR variants in patients from Myanmar with lung adenocarcinoma.

Methods

Histological diagnosis and categorization of biopsies collected from 66 patients (28–78 years) with lung cancer was conducted using a panel of antibodies including those to: TTF1, P40, synaptophysin, CK7, and napsin-A. Samples from patients with confirmed adenocarcinoma were tested for EGFR variants using a cobas EGFR Mutation Test kit and cobas z 480 System (Roche). We conducted a univariate analysis of categorical factors using a χ2 or Fisher exact test.

Results

Histological types were adenocarcinoma (61%, 40/66), squamous cell carcinoma (24%, 16/66), neuroendocrine carcinoma (9%, 6/66), undifferentiated carcinoma (2%, 1/66), adenosquamous carcinoma (2%, 1/66), small cell anaplastic carcinoma (2%, 1/66), and pleomorphic sarcoma (2%, 1/66). EGFR variants were detected in 15 of 40 (38%) cases of adenocarcinoma. Among them, 6 patients (40%) had an exon 19 deletion, another 6 (40%) had exon 21 substitutions, 1 (7%) had exon 20 insertion S768I, and 2 (13%) had compound variations (1 of exon 21 L858R and exon 18 G719X, and 1 of exon 20 S768I and exon 18 G719X). Although limited by small sample size, no significant association was found between the variants and factors including family cancer history, age group, sex, ethnicity, or occupation. However, there was a strong significant association between never-smokers and EGFR variants (P = 0.008).

Conclusion

Knowledge of EGFR variants in patients from Myanmar is encouraging for their effective cancer treatment.

Mots clés

  • adenocarcinoma of lung
  • EGFR protein
  • human
  • ErbB receptors
  • Myanmar
  • carcinoma
  • non-small-cell lung

Clinical vignette

Accès libre

Ablepharon macrostomia syndrome in a Thai patient: case report and literature review

Publié en ligne: 04 Aug 2020
Pages: 83 - 88

Résumé

Abstract

Ablepharon macrostomia syndrome (AMS) is a rare congenital disorder. To our knowledge, only 20 cases have been reported to date, and all in patients from Western countries. We report a case of AMS in a Thai patient, who presented at age 3 months with severe ectropion of both upper and lower eyelids, alopecia totalis, no palpable clitoris, and hypoplasia of both labia minora and labia majora. Trio whole exome sequencing analysis was performed, which revealed a heterozygous missense c.223G>A (p.Glu75Lys) variation in TWIST2. To our knowledge, this is the first reported case of AMS in a patient from Thailand and the first reported case of AMS in Asia.

Mots clés

  • ablepharon macrostomia syndrome
  • Barber Say syndrome
  • lagophthalmos
  • whole exome sequencing

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