Frequency of the prominent transverse nasal root vein in children.

BACKGROUND: The presence of a vascular, blue linear discoloration on the nasal root of infants and young children is a frequent incidental feature, rarely reported in the medical literature. It is related to the trajectory of the transverse nasal root vein (TNRV). OBJECTIVE: To study the frequency and clinical characteristics of the vascular discoloration of the nasal root in children. METHODS: A prospective study was performed to address the presence or absence of vascular discoloration of the nasal root in all children under 6 years of age attending a pediatric dermatology clinic from November 2022 to November 2023. Data on age and skin phototype (Fitzpatrick classification I-VI) were also collected. RESULTS: Of 701 patients examined, 345 (49.2%) presented with a vascular discoloration of the nasal root. This was present in 97 of 193 (50.3%), 127 of 261 (48.7%), and 121 of 247 (49.0%) patients for the age groups 0-1, 1-3, and 3-6 years, respectively. The presence of vascular discoloration of the nasal root was more frequent in patients with lighter Fitzpatrick skin phototypes: 49 of 69 (71.0%) phototype II, 157 of 290 (54.1%) phototype III, and 137 of 337 (40.7%) phototype IV. CONCLUSIONS: A vascular discoloration of the nasal root is a frequent skin feature in infants and children, persisting at least until the age of 6. It does not constitute any medical problem aside from cosmetic concern and parents can be reassured of its benign nature. We propose the medical term "prominent TNRV" to describe this condition.

[Clinical analysis and surgical discussion of juvenile ossifying fibroma in nasal root].

Objective:To analyze the clinical features of juvenile ossifying fibroma in nasal root and to compare different surgical methods. Methods:Seven cases of juvenile ossifying fibroma occurring in the nasal root were treated via surgery, 5 cases were resected under nasal endoscopy guided by Image Guidance System-based electromagnetic navigation, and 2 cases were resected by lateral nasal butterfly incision. Postoperative follow-up included endoscopy and CT scan of the sinuses. Results:The pathological results of 7 patients were consistent with juvenile ossifying fibroma. Follow-up period ranged from 6 to 45 months, and there were no recurrence or surgical complications. Conclusion:Surgery is the only effective treatment. Endoscopic sinus surgery with image navigation and lateral nasal butterfly incision resection has been deemed available. The external nasal butterfly incision has less bleeding and shorter operation time, but with mild nasal face swelling after surgery, and nasal endoscopy is a surgical method with less damage.

Quantitative Respirator Fit, Face Sizes, and Determinants of Fit in South African Diagnostic Laboratory Respirator Users.

OBJECTIVES: Respirators are widely used in health care settings but there is scant information on adequacy of fit and its determinants, particularly in resource-constrained settings. The aim of the study is to describe the proportion of South African diagnostic laboratory respirator users with adequate quantitative respirator fit while wearing their currently selected respirators which were generally supplied without regard to face size, and to identify determinants of fit test pass and fail. METHODS: This was a cross-sectional study with 562 participants. Quantitative respirator fit testing was conducted using a PortaCount fit testing machine. Four facial dimensions were taken using callipers and a tape measure. STATA 14 was used to perform descriptive and inferential statistics. The effect of the independent variables including face dimensions, race, smoking, respirator make and size, and age group was explored using multiple logistic regression stratified by sex. RESULTS: Ninety one percent of the respirators supplied were medium-sized. Seventy eight percent of respirator users failed fit testing and were thus probably not protected by their currently supplied respirator. Multiple logistic regression analysis showed that face length in mm (odds ratio [OR] = 1.04, 95% confidence interval [CI] = 1.00-1.09), nasal root breadth in mm (OR = 1.16, 95% CI = 1.06-1.28), and respirator shape (OR = 0.56, 95% CI = 0.39-0.78) were significant predictors of overall fit for all subjects and for women alone, but these factors explained only a small percentage of fit test outcomes. CONCLUSION: A large proportion of diagnostic laboratory employees were using poorly fitting respirators. This creates a false impression of protection. Fit testing of respirators is therefore important and recommended. The determinants evaluated described only a small portion of the variability in fit; important determinants were absent from the models.

Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.

Frontonasal dysplasia (FND) is a heterogeneous group of disorders characterized by hypertelorism, telecanthus, broad nasal root, wide prominent nasal bridge, short and wide nasal ridge, broad columella and smooth philtrum. To date one X-linked and three autosomal recessive forms of FND have been reported in different ethnic groups. We sought to identify the gene responsible for FND in a consanguineous Pakistani family segregating the disorder in autosomal recessive pattern. Genome-wide homozygosity mapping using 250KNsp array revealed five homozygous regions in the selected affected individuals. Exome sequencing found a novel splice acceptor site variant (c.661-1G>C: NM_006982.2) in ALX1. Sanger sequencing confirmed the correct segregation of the pathogenic variant in the whole family. Our study concludes that the splice site variant identified in the ALX1 gene causes mild form of FND.