ABSTRACT
Beta-blockers have been established as a treatment of infantile haemangiomas (IH) since its serendipitous discovery for use in IH in 2008. However, data on the safety of these beta-blockers for use in IH in preterm infants are scarce. A retrospective study was performed to review the safety of oral propranolol and topical timolol in the treatment of IH in a cohort of preterm infants treated at our tertiary paediatric hospital. It was observed that there was an increased risk of adverse events amongst the preterm infants with chronic lung disease, retinopathy of prematurity and gastroesophageal reflux, when treated with oral propranolol.
ABSTRACT
This study examined concordance between caregiver-reported and physician-rated estimates of severity of atopic dermatitis (AD) in paediatric patients and explored potential explanatory factors. Physician-reported severity of AD was retrieved from medical records, while caregiver-reported disease severity and sociodemographic data were obtained through a survey that also collected information on out-of-pocket expenses due to AD. There was 38.5% (95% confidence interval (95% CI) 30.1, 43.5) disagreement between physician and caregivers with regards to both underestimating and overestimating the condition. A duration since AD diagnosis shorter than 6 months showed higher concordance (kappa: 44.4%; 95% CI 30.6, 58.2) between caregiver and physician estimates of AD severity compared with a duration of 6 months or longer. Caregivers underestimating their child's AD accounted for 27.7% among all participants, while 10.8% overestimated the severity of AD compared with physicians. Factors significantly associated with caregiver's underestimation of disease severity were age of the child and time since disease diagnosis. Comparison of concordance between caregiver-reported and physician-rated estimates of severity of AD in paediatric patients revealed a tendency amongst caregivers to underestimate severity of AD. This information may have clinical implications for treatment outcomes if caregivers fail to adhere to medical advice.
Subject(s)
Dermatitis, Atopic , Physicians , Caregivers , Child , Cross-Sectional Studies , Dermatitis, Atopic/diagnosis , Humans , Quality of Life , Severity of Illness IndexABSTRACT
UNLABELLED: Tricho-hepato-enteric syndrome (THE-S) is characterized by severe infantile diarrhea, failure to thrive, dysmorphism, woolly hair, and immune or hepatic dysfunction. We report two cases of East Asian descent with THE-S who had remained undiagnosed despite extensive investigations but were diagnosed on whole exome sequencing (WES). Both cases presented with chronic diarrhea, failure to thrive, and recurrent infections. Case 1 had posteriorly rotated low set ears, mild retrognathia, and fine curly hypopigmented hair. She was managed with prolonged total parenteral nutrition and intravenous immunoglobulin infusions. Case 2 had sparse coarse brown hair as well as multiple lentigines and café-au-lait macules. She was managed with amino acid-based formula. For both cases, routine investigations were inconclusive. WES in both cases showed biallelic truncating mutations in TTC37 (c.3507T>G;p.Y1169X and c.3601C>T;p.R1201X in case 1 and c.3507T>G;p.Y1169X and c.154G>T;p.E52X in case 2), suggesting a diagnosis of THE-S. CONCLUSION: We present novel mutations in the TTC37 gene in two individuals of East Asian descent with the rare THE-S, detected by WES. Future identification of patients with THE-S and establishing genotype-phenotype correlations will aid in counseling the patients and their families. WHAT IS KNOWN: ⢠Tricho-Hepato-Enteric syndrome (THE-S) is characterized by severe infantile diarrhea, failure to thrive, dysmorphism, woolly hair, and immune or hepatic dysfunction. ⢠Complex patients with diagnostic dilemmas undergo extensive investigations. What is New: ⢠This is a report of novel mutations in TTC37 in individuals of East Asian descent. ⢠Whole exome sequencing (WES) can be useful in certain complex cases with diagnostic dilemmas.
Subject(s)
Carrier Proteins/genetics , DNA/genetics , Diarrhea, Infantile/genetics , Fetal Growth Retardation/genetics , Hair Diseases/genetics , Mutation , Carrier Proteins/metabolism , Child, Preschool , DNA Mutational Analysis , Diarrhea, Infantile/diagnosis , Diarrhea, Infantile/metabolism , Facies , Female , Fetal Growth Retardation/diagnosis , Fetal Growth Retardation/metabolism , Genetic Testing , Hair Diseases/diagnosis , Hair Diseases/metabolism , HumansABSTRACT
Daptomycin, a lipopeptide antibiotic with similar action as vancomycin, is used to treat complicated skin and soft tissue infections caused by resistant Gram-positive bacteria, including methicillin-resistant Staphylococcus aureus, penicillin-resistant streptococci, and vancomycin-resistant enterococci. Acute generalized exanthematous pustulosis (AGEP), characterized by acute onset of numerous sterile, nonfollicular pinhead sized pustules, is common secondary to drugs, in particular, antibiotics. We present the first case of AGEP following the use of daptomycin.
