Browsing by Author "Pakdeeto S."

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    Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1
    (2022-04-01) Pongmee P.; Wittayakornrerk S.; Lekwuttikarn R.; Pakdeeto S.; Watcharakuldilok P.; Prempunpong C.; Tim-Aroon T.; Puttanapitak C.; Wattanasoontornsakul P.; Junhasavasdikul T.; Wongkittichote P.; Noojarern S.; Wattanasirichaigoon D.; Mahidol University
    Epidermolysis bullosa (EB) is a rare and genetically heterogeneous disorder characterized by skin fragility and blister formation occurring spontaneously or after minor trauma. EB is accompanied by congenital absence of skin (EB with CAS) in some patients. Pathogenic variants of COL7A1 are responsible for EB with CAS in the vast majority of cases. Type and subtype diagnosis of EB with CAS generally requires specific immunohistological examinations that are not widely available plus targeted gene analysis. The present study aimed to determine the clinical features of five patients affected by EB with CAS and to identify the underlying genetic defects using whole exome sequencing (WES) followed by focused analysis of the target genes. Four patients had generalized skin involvement and one had localized defects. Two patients exhibited extremely severe skin manifestations and congenital cloudy cornea along with pyloric atresia, and one had partial esophagogastric obstruction and anuria due to vesicoureteric obstruction. In the WES analysis, the average coverage of the target exons was 99.05% (726 of 733 exons), with a range of 96.4–100% for individual genes. We identified four novel and two known pathogenic/likely pathogenic variants of five distinct genes in the examined families: PLEC:c.2536G > T (p.Glu846Ter); LAMC2:c.3385C > T (p.Arg1129Ter); KRT5:c.429G > A (p.Glu477Lys); ITGB4:c.794dupC (p.Ala266SerfsTer5); COL7A1:c.5440C > T (p.Arg1814Cys); and COL7A1:c.6103delG. All alleles were inherited from the parents, except for the KRT5 variant as a de novo finding. The findings reveal extremely rare phenotypes found in EB with CAS, namely congenital cloudy cornea, esophagogastric obstruction, and anuria, and extend the genotypic spectrum of EB-related genes. The data confirm that WES provides very high coverage of coding exons/genes and support its use as a reasonable alternative method for diagnosis of EB. The present data from an underrepresented population in Southeast Asia could further broaden the knowledge and research on EB.
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    Maternal septicemia caused by Streptococcus mitis: a possible link between intra-amniotic infection and periodontitis. Case report and literature review
    (2022-12-01) Chaemsaithong P.; Lertrut W.; Kamlungkuea T.; Santanirand P.; Singsaneh A.; Jaovisidha A.; Pakdeeto S.; Mongkolsuk P.; Pongchaikul P.; Mahidol University
    Background: Intra-amniotic infection has a strong causal association with spontaneous preterm birth and preterm prelabor rupture of membranes (PPROM). The most common route of intra-amniotic infection is the ascending pathway in which microorganisms from the vagina gain access to the amniotic cavity. Distant microorganisms such as those from the oral cavity have been reported in intra-amniotic infection through hematogenous spreading. Case presentation: A 31-year-old gravida 1, para 0 Thai woman at 33+6 weeks’ gestation presented with leakage of vaginal fluid and irregular uterine contraction. She developed fever at 4 h after admission and was later diagnosed with acute chorioamnionitis. A Cesarean section was performed to terminate pregnancy. In addition to a blood culture, the cultures of amniotic fluid, vaginal and chorioamniotic membrane swabs were positive for Streptococcus mitis with identical susceptibility profiles. After the delivery and antibiotic prescription, oral examination showed dental caries and chronic periodontitis. Conclusions: This is the first case report demonstrating maternal septicemia and intra-amniotic infection caused by S. mitis which might be attributed to periodontitis in women presenting with preterm PROM. We highlighted the association of periodontal disease and preterm labor/PROM syndrome. Oral cavity examination should be included in the prenatal care to ensure good dental hygiene.
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    Perinatal Hemolytic Disorders and Identification Using End Tidal Breath Carbon Monoxide
    (2023-11-01) Christensen R.D.; Bahr T.M.; Pakdeeto S.; Supapannachart S.; Zhang H.; Mahidol University
    Hemolytic disorders can cause severe morbidity or can be life-threatening. Before the re-cent development of practical and inexpensive testing for hemolysis by quantifying carbon monoxide in end-tidal breath, some hemolytic disorders in perinatal patients were not detected until se-verely problematic hyperbilirubinemia and/or anemia occurred. Here we review studies aimed at es-tablishing the normal reference intervals for end tidal breath carbon monoxide (ETCO) in various perinatal populations. We also review reports, and new theories, about using this methodology to diagnose and quantify hemolytic disorders in term and premature neonates, anemic pregnant wom-en, and fetuses in utero. The purposes of making these measurements are to; (1) identify patients who have hemolytic disorders, (2) characterize the severity of the hemolysis in each hemolytic pa-tient, and (3) predict and prevent co-morbidities, thereby improving outcomes.
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    Reference intervals for end-tidal carbon monoxide of preterm neonates
    (2022-01-01) Pakdeeto S.; Mahidol University
    Objectives: We constructed reference intervals for end-tidal carbon monoxide (ETCOc) levels of neonates 28 0/7 to 34 6/7 weeks gestation in order to assess hemolytic rate. Study design: This is a prospective four-NICU study in Bangkok, Thailand, and Utah, USA. Results: Of 226 attempted measurements, 92% were successful. Values from day 1 through 28 were charted and upper (>95th percentile) reference interval limits calculated. During the entire 28 days, the ETCOc upper reference intervals from babies in Bangkok were higher than those in Utah (p < 0.01). No differences were found due to sex, or earliest vs. latest gestation at birth (both p > 0.1). Similar to term neonates, preterm neonates in Bangkok and Utah had higher ETCOc values during the first 48 h after birth than thereafter (p < 0.01). Conclusions: Using this methodology, and the reference interval chart, the hemolytic rate of preterm infants ≥28 weeks can be assessed.