Selenium Toxicity from a Misformulated Dietary Supplement,Adverse Health Effects,and the Temporal Response in the Nail Biologic Monitor

Use of dietary supplements in the U.S. has increased steadily over the last 25 years. While misformulation is uncommon, the consequences can be serious. A March 2008 voluntary market recall removed supplement products responsible for the most serious selenium toxicity outbreak that has occurred in the U.S. We quantified selenium concentrations in the misformulated supplement products, measured the temporal response in the nail biologic monitor, and associated exposure to self-reported selenosis symptoms. Subjects recruited through state health departments and referrals provided samples of the misformulated supplement products, exposure information, monthly toenail and or fingernail clippings or onycholysitic nail fragments, and listed their newly onset adverse health effects attributed to selenium toxicity. Ninety-seven subjects enrolled and submitted at least one test sample. Peak selenium concentrations (up to 18.3 and 44.1 μg/g for toenails and fingernails, respectively) were measured. Multiple samples (52 total) of all six recalled supplement lots were analyzed ranging from 22,300 to 32,200 μg selenium per daily dose. Average consumption was 30.9 ± 13.9 doses; 73 subjects provided follow-up data on selenosis symptoms at 2.50 ± 0.14 years. Nail samples accurately reflect exposure in this selenium toxicity outbreak, which resulted in long-term/permanent adverse health effects.     

Nickel concentrations in fingernails as a measure of occupational exposure to nickel

The nickel concentration in fingernails from 2 groups of people occupationally exposed to nickel was determined. In one group, comprising 83 persons moderately exposed to nickel, the mean +/- standard deviation (SD) was 29.2 micrograms/g +/- 56.7 micrograms/g and the median 13.8 micrograms/g (range 0.926-396 micrograms/g). In the other group, comprising 51 persons heavily exposed to nickel, the mean +/- SD was 123 micrograms/g +/- 289 micrograms/g and the median 29.9 micrograms/g (range 1.95-1770 micrograms/g). Both levels were significantly different from the normal nickel concentration in nails (p less than 0.001). The difference between the 2 levels was also significant (p less than 0.001). No correlation between the nickel concentration in fingernails and the duration of exposure could be demonstrated. It was concluded that the higher the nickel level in the fingernails, the greater is the possibility that the person is occupationally exposed to nickel. Nail analysis is suggested as a measure of occupational exposure to nickel.     

Speciation of arsenic in human nail and hair from arsenic-affected area by HPLC-inductively coupled argon plasma mass spectrometry

Nail and hair are rich in fibrous proteins, i.e., alpha-keratins that contain abundant cysteine residues (up to 22% in nail and 10-14% in hair). Although they are metabolically dead materials in the epidermis, the roots are highly influenced by the health status of the living beings and their analyses are used as a tool to monitor occupational and environmental exposure to toxic elements. The aims of the present study are to speciate arsenicals in human nail and hair and also to judge whether they should be used as a biomarker to arsenic (As) exposure and/or toxicity. All human fingernail and hair samples (n = 47) were collected from the As-affected area of West Bengal, India. Speciation of arsenicals in water extracts of fingernails and hair at 90 degrees C was carried out by HPLC-inductively coupled argon plasma mass spectrometer (ICP MS). Fingernails contained iAs(III) (58.6%), iAs(V) (21.5), MMA(V) (7.7), DMA(III) (9.2), and DMA(V) (3.0), and hair contained iAs(III) (60.9%), iAs(V) (33.2), MMA(V) (2.2), and DMA(V) (3.6). Fingernails contained DMA(III), but hair did not. The higher percentage of iAs(III) both in fingernails and hair than that of iAs(V) suggests more affinity of iAs(III) to keratin. Although all arsenicals in fingernails and hair correlate to As exposure positively, As speciation in fingernails seems to be more correlated with arsenism than that in hair. Exogenous contamination is a confounding factor for hair to consider it as a biomarker, whereas this is mostly absent in fingernails, which recommends it to be a better biomarker to arsenic exposure. DMA(III) content in fingernails and DMA(V) contents in both fingernails and hair could be the biomarker to As exposure.     

Lenz–Majewski syndrome in a patient from Egypt

Lenz–Majewski syndrome (LMS) is an extremely rare type of cutis laxa caused by dominant mutations in PTDSS1 gene. We report an Egyptian patient who presented with cutis laxa, brachydactyly, and progeroid features. LMS syndrome was suspected and a previously reported de novo heterozygous missense mutation (c.284G > T, p.R95L) in PTDSS1 was identified. To the best of our knowledge, nine molecularly proven patients with LMS from different ethnicities have been reported. Our patient is the first report from the Middle East and the tenth molecularly proven patient reported to date. His clinical features were in accordance with LMS syndrome. In addition, his hands X‐ray images showed hypoplastic or absent middle and proximal phalanges but sparing the thumbs. This hand patterning was similarly observed before. Further, he had relatively large and convex fingernails. Our report highlights this unique hand patterning and suggests these signs should be considered among the diagnostic criteria of LMS. Further reports of patients with PTDSS1 mutations are necessary to further elucidate the detailed clinical features of LMS syndrome.     

哈尔滨市健康成人指甲镍含量

对哈尔滨市７９名大学生指甲镍含量进行了测定，用对数正态分布法求出指甲镍正常上限值为３．９１μｇ／ｇ．对本建议值的科学性和适用性进行了讨论。     

Scalp dermatitis, ectodermal dysplasia and cleft lip and palate: Rapp–Hodgkin or AEC syndrome

A female infant with ectodermal dysplasia, bilateral cleft lip and palate and a recalcitrant scalp dermatitis is presented. She had features of both Rapp–Hodgkin syndrome and AEC syndrome. It has recently been suggested in the literature that these two syndromes are the same condition and this case report supports this viewpoint.     

Onychomycosis in Lebanon: a mycological survey of 772 patients

Accurate diagnosis of onychomycosis is based on clinical findings, direct microscopic investigation and mycological culture. If the diagnosis is not confirmed by culture and improvement does not occur, it is impossible to tell whether this represents treatment failure or an initial incorrect diagnosis. The aim of this study was to identify the major organisms involved in onychomycosis with emphasis on the importance of culture in treating onychomycosis. The study was performed at the Lebanese University, Beirut, Lebanon over a 5-year period (2000-2004). Clinically suspected patients were referred to our mycology laboratory for KOH test and culture. The study included 772 patients (520 women, 252 men). Cultures were positive in 54.3% of cases (predominantly male). The ratio of onychomycosis in toenails/fingernails was 1.9. In toenails, dermatophytes were found in 77.1% of cases, Candida in 18.9% and moulds in 4%. In fingernails, Candida was found in 81% of cases, dermatophytes in 18.1% and moulds in 0.9%. The most commonly isolated dermatophytes were Trichophyton mentagrophytes (36%), T. rubrum (27.5%) and T. tonsurans (26%). Pathogens involved in onychomycosis change according to each geographical area. Therefore, treatments should be based on studies carried out in the same region.     

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review

We report on a 9‐year‐old girl with subtelomeric 20p microdeletion. She was referred for genetic counseling because of learning difficulties/school problems. During the evaluation short stature, hypoplastic fingernails, submucous cleft palate with cleft uvula, flat feet, and frequent upper respiratory infections, as well as the large fontanelle after birth were observed. No facial dysmorphic features specific for chromosomal aberrations were present. The diagnosis of deletion of 20p13 was established by MLPA, and delineated by arrayCGH. Our report describes the third individual with this approximate deletion, and presents detailed molecular and phenotypic characteristics providing new data supporting future genotype–phenotype study. © 2012 Wiley Periodicals, Inc.