Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease.

We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) with minimal skin involvement but severe protein-losing enteropathy and airway involvement. Genetic analysis revealed heterozygous mutations in the ITGB4 gene encoding integrin ß4 protein. Parental testing confirmed inheritance of frameshift variant (c.794dupC) as maternal and splice site variant (c.1608C>T/p.Cys536Cys) as paternal. Immunofluorescence mapping of her skin revealed a subepidermal blister with decreased and frayed integrin ß4 at both the floor and the roof of the blister, while the intestinal mucosa showed complete absence of integrin ß4. We review the literature and discuss the differential expression of integrins in the skin and gastrointestinal tract, as well as the role of chronic inflammation in the pathogenesis of EB.

Oral propranolol for the treatment of infantile haemangiomas in Singapore.

INTRODUCTION: Infantile haemangiomas (IH) are the most common vascular tumours in childhood. Over the past decade, treatment of IH has been revolutionised by the discovery of the effectiveness of beta-blockers in its treatment. We review our hospital's experience with oral propranolol in the treatment of IH in an Asian population. METHODS: We performed a retrospective review of the medical records and clinical photos of paediatric patients with IH treated with propranolol in a tertiary paediatric hospital in Singapore from January 2010 to February 2015. RESULTS: A total of 88 patients with IH treated with propranolol were identified over a five-year period, with 79 patients included in the final analysis. There was a predominance of female patients (75.9%) and preterm infants (41.8%) in our study population. The head and neck (65.8%), especially the orbital or preorbital region (45.6%), were the most common lesion sites in our cohort of patients. Mean age of onset was 2.3 ± 4.5 weeks of age, and mean age of starting propranolol treatment was 7.7 ± 10.5 weeks of age. 44.3% of patients experienced > 75% improvement, while 29.1% experienced improvement of 50%-75%. Response to treatment was influenced by the age of starting treatment. CONCLUSION: Our study provides further evidence of the efficacy and safety of propranolol in the treatment of IH in an Asian population. Early treatment is recommended for optimal results.

Dataset on gene expression in the elderly after Mindfulness Awareness Practice or Health Education Program.

It has been reported that relaxation techniques can improve physical health and cognitive function. A number of studies involving different types of relaxation practices showed changes in expression of genes. We investigated the gene expression pattern of a cohort of elderly subjects of Asian descent after weekly (for the first three months) and monthly (for the subsequent six months) intervention. Sixty consenting elderly subjects (aged 60-90 years) with mild cognitive impairment were assigned to either the Mindfulness Awareness Practice (MAP) or Health Education Program (HEP) group in a randomized controlled trial to assess the effectiveness of the programs in preventing further cognitive decline and evaluate the influence on neurological, cellular and biochemical factors. Blood samples were collected before the start of intervention and after nine months for gene expression profiling using Affymetrix Human Genome U133 Plus 2.0 arrays. The dataset is publicly available for further analyses.

Investigation of variants in estrogen receptor genes and perinatal depression.

OBJECTIVES: Depressive symptoms are common during pregnancy and after childbirth. Estrogen levels fluctuate greatly during the course of pregnancy and may contribute to mood instability. The first aim of this case-control study was to investigate whether variants in the two estrogen receptor genes might contribute to the genetic susceptibility to pregnancy-related depression using controls that were screened for postnatal depression. The second aim was to uncover new variants in the two estrogen receptor genes. PATIENTS AND METHODS: Our study sample comprised 554 control subjects who had Edinburgh Postnatal Depression Scale (EPDS) scores below 7 at postnatal screening, and 159 patients with clinically diagnosed pregnancy-related depression. They were genotyped for four single-nucleotide polymorphisms (SNPs) and a dinucleotide repeat in the two genes: estrogen receptor α (ESR1) and estrogen receptor ß (ESR2). Fifty-six cases with personal and/or family history of depression of psychiatric disorders were selected for resequencing of the two genes. RESULTS: There was no statistically significant association with perinatal depression for all five variants. However, there was a trend toward higher frequencies of the genotypes associated with higher risk of depression for rs2077647 and rs4986938 in the case group. From resequencing, two novel ESR1 variants were identified from two different patients. CONCLUSION: Our study that used screened controls with low EPDS scores and cases with clinically diagnosed pregnancy-related depression could not replicate the association with depression for any of the SNPs for both genotype and allele frequencies. Two novel SNPs were identified and could be further investigated in a larger sample set.

A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome.

Van der Woude syndrome (VWS) is a rare autosomal dominant genetic disorder characterized by orofacial clefting and lip pits. Mutations in the transcription factor interferon regulatory factor 6 gene (IRF6) have been identified in individuals with VWS. We performed direct sequencing of the gene for molecular investigation of a proband with Bangladeshi-Malay ancestry. A novel transition mutation (c.113T>C), which resulted in an amino acid substitution (p.Ile38Thr) in the deoxyribonucleic acid-binding domain was detected. Testing of family members showed that the mutation segregated with the VWS phenotype for members of her immediate family. Although there is some phenotypic variability, all of the affected members are of the female gender.