Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities.

BACKGROUND: Whole exome sequencing on family trios gives the highest diagnostic yield, but high cost limits its application. Here, we performed proband-only clinical exome sequencing in a population of patients with neurodevelopmental disabilities and tested the diagnostic yield. METHODS: This observational, retrospective study included 108 unrelated patients with neurodevelopmental disabilities who underwent clinical exome sequencing at the outpatient clinics of the Severance Children's Hospital, Seoul, South Korea, between March 2017 and May 2018. Clinical exome sequencing targeted 4503 disease-causing genes. RESULTS: The overall diagnostic rate was 38.0% (41 of 108) when proband-only clinical exome sequencing was performed without additional parental testing. Four sequence variants were reclassified as likely pathogenic after parental testing, representing an additional 3.7% of the diagnostic yield. The final diagnostic rate was 41.7% (45 of 108). Of 45 patients with genetic abnormalities, a total of 38 sequence variations were detected in 33 (30.6%) patients with five homozygous cases, and 13 chromosomal copy number variants were detected in 12 (11.1%) patients. Novel variants of known causal genes for neurodevelopmental disabilities were detected in 18 (16.7%) patients. These were variants that could be reclassified as likely pathogenic if the de novo nature of the mutation was confirmed after testing of parental samples. CONCLUSIONS: Proband-only clinical exome sequencing is a practical diagnostic tool that may be implemented in the clinical setting for patients with neurodevelopmental disabilities. A cost-effective approach to neurodevelopmental disabilities would be a proband-only clinical exome sequencing followed by parental testing of selective candidate variants.

Cross-sectional survey of awareness and behavioral pattern regarding acne and acne scar based on smartphone application.

BACKGROUND: Although acne scar is a permanent sequela that may be induced by improper management of active acne lesion, patient behavior patterns and awareness regarding acne are unclear. The aim of this study was to identify awareness and behavioral patterns concerning acne and acne scar of people having acne and differences between those with and without acne scars. METHODS: The survey was performed via smartphone application for 900 participants in their second to fourth decade having current or previous acne lesions. They were further categorized into two groups based on the presence of acne scar (scar and scarless groups) with no statistical difference in demographic composition. RESULTS: The mean age of all participants was 24.6 ± 5.3. The scar group had a longer disease duration (4.9 years) than those of the scarless group (2.2 years). Participants in the scar group thought that acne scarring affected psychosocial aspects more negatively compared with those in the scarless group. Participants in the scarless group visited dermatology clinics earlier than those in the scar group. In the scar group, 62.1% of participants have never had their acne scars treated medically. Most (88.6%) participants from both groups believed that non-dermatologic treatment caused side effects or aggravated their acne. CONCLUSIONS: Participants with acne scars tended to treat their acne and acne scars improperly, which could negatively affect their daily lives. Acne scars are sequelae of acne and should be regarded as a distinct disease entity, requiring a patient's early visit to dermatologic clinics.

Quality of life assessment in male patients with androgenetic alopecia: result of a prospective, multicenter study.

BACKGROUND: Androgenetic alopecia (AGA) is a common hair loss disease with genetic predisposition among men and women, and it may commence at any age after puberty. It may significantly affect a variety of psychological and social aspects of one's life and the individual's overall quality of life (QoL). OBJECTIVE: This study aimed to investigate the QoL of AGA patients and discover the factors that can influence the QoL of AGA patients, including previous experience in non-medical hair care, reasons for hospital visits, age, duration, and the severity of AGA. METHODS: A total of 998 male patients with AGA were interviewed, using the Hair Specific Skindex-29 to evaluate the QoL of AGA patients. RESULTS: The results of the Hair Specific Skindex-29 on patients with AGA were as follows: symptom scale: 26.3±19.5, function scale: 24.0±20.1, emotion scale: 32.1±21.8, and global score: 27.3±19.1. According to this assessment, QoL was more damaged if the patient had severe alopecia, a longer duration of AGA, younger age, had received previous non-medical hair care, and visited the hospital for AGA treatment. CONCLUSION: This study showed that AGA could harmfully affect the patients' QoL. These findings indicate that dermatologists should address these QoL issues when treating patients with alopecia.