Flexible intramedullary nailing for radial neck fractures in children

ObjectiveThe aim of this study was to analyze the outcomes of treatment and the rate of complications in children treated with flexible intramedullary nailing (FIN) for radial neck fractures.MethodsThe study included 26 children (11 males and 15 females) with a median age of 9.5 years, treated with FIN for the radial neck fractures between May 2011 and May 2018. Immobilization after the surgery was not used. The median follow-up was 41 months. According to the Judet classification, 15 fractures were classified as type III and 11 as Type IV. For each patient, clinical, radiological, and disability of the arm, shoulder, and hand (DASH) scores were calculated.ResultsAll patients achieved complete radiographic healing at a median of 5 weeks. The nails were removed at a median of 4 months. The rate of complications was 11.5%, including 1 radial head necrosis, 1 angulation of 15°, and 1 displacement of the radial head. Twenty patients (76.9%) achieved a perfect clinical healing, while 23 patients (88.5%) achieved a perfect radiological healing. The median DASH score was 1.25. No cases of delayed healing were recorded. After removing of the nails, all patients returned to full function of the extremity and all complications were resolved.ConclusionThe use of FIN for treating fractures of the radial neck in children shows very good functional and cosmetic results. It allows mobilization with rapid pain reduction. It is a minimally invasive, simple, and reproducible technique with a low rate of complication. Owing to excellent results, surgical stabilization of radial head and neck fractures using FIN is recommended in children and adolescents.Level of EvidenceLevel IV, Therapeutic study     

Different inactivating mutations in the LU genes of three individuals with the Lutheran-null phenotype

BACKGROUND: The null phenotype of the Lutheran blood group system, Lu(null) or Lu(a-b-), is characterized by the lack of all Lutheran system antigens. It can arise from three genetic backgrounds: recessive, dominant, or X-linked. Lu(null) of the recessive type appears to result from homozygosity for an inactive LU gene. STUDY DESIGN AND METHODS: Three unrelated recessive Lu(null) individuals were assessed by standard serologic tests. All exons of the LU gene were directly sequenced from amplified genomic DNA. The validity of the observed mutations within the LU gene was confirmed by the use of either restriction enzymes or allele-specific primers. RESULTS: All three individuals had the serologic characteristics of recessive Lu(null). One individual was doubly heterozygous for a nonsense mutation 691C>T in exon 6 (Arg231STOP) and a deletion of LU exons 3 and 4. The other two samples showed homozygous nonsense mutations: one had 711C>A in exon 6 (Cys237STOP) and the other 361C>T in exon 3 (Arg121STOP). CONCLUSIONS: The results revealed four unique genetic backgrounds from three examples of the rare recessive Lu(null) phenotype, each encoding Lutheran glycoproteins with a disrupted structure.     

A plea for a chronobiological approach to diabetes mellitus

Diabetes mellitus is, in most patients, a multi-metabolic condition disease under fixed standardized conditions. We develop here the advantages of a chronobiological approach, exploring nycthemeral variations in blood pressure, variations in insulin resistance, postprandial changes in blood glucose and postabsorptive variations in blood lipids. Such information can help improve our understanding of the disease, better identify risk and prognosis, and enlighten therapeutic options.     

Identification and quantification of isoguanosine in humans and mice

Isoguanine (2-hydroxyadenine), considered to be a non-natural nucleobase has, however, been shown to occur in the croton bean, butterfly wings and a mollusk. For the first time, to the best of our knowledge, we report the identification of isoguanosine (2-hydroxyadenosine), the ribonucleoside, in humans and mouse. Isoguanosine is identified and quantified in RNA from mouse liver samples and in human urine and cerebrospinal fluid. Isoguanine could not be detected as the 2′-deoxyribonucleoside in mouse liver DNA. It could be speculated that the source of isoguanosine was formation from adenosine during oxidative stress in the body. However, the urinary concentrations of isoguanosine and the levels in the liver found here by using isotope dilution liquid chromatography–tandem mass spectrometry are identical to or exceed those of 8-oxo-7,8-dihydro-2′-deoxyguanosine and 8-oxo-7,8-dihydro-guanosine. Guanine is the nucleobase that is oxidized the easiest, so it appears spectacular that the levels of isoguanosine are higher than the levels of 8-oxo-7,8-dihydro-2′-deoxyguanosine and 8-oxo-7,8-dihydro-guanosine. It also appears intriguing that it was only possible to detect the ribonucleoside isoguanosine and not the 2′-deoxyribonucleoside. These observations could indicate that the isoguanosine found is not formed by oxidative stress and could have biological functions.     

Mapping Electrical Impedance Spectra of the Healthy Oral Mucosa: a Pilot Study

Objective

Electrical impedance is the resistance to the electric current flow through a tissue and depends on the tissue’s structure and chemical composition. The aim of this study was to map electrical impedance spectra for each region of the healthy oral mucosa.

Materials and Methods

Electrical impedance was measured in 30 participants with healthy oral mucosa. Measurements were performed in 14 points on the right and the left side of the oral cavity, and repeated after 7 and 14 days respectively.

Results

The lowest values were measured on the tongue dorsum and the highest values were measured on the hard palate. No significant differences were found between the right and the left side. Significantly higher values were found in females on the upper labial mucosa, tongue dorsum and the ventral tongue. Significant difference between smokers and non-smokers on the lower labial mucosa and floor of the mouth was found. Electrical impedance was negatively correlated with salivary flow on the upper labial mucosa, hard palate, tongue dorsum and sublingual mucosa. Higher variability of measurements was found at low frequencies.

Conclusions

Electrical impedance mostly depends on the degree of mucosal keratinization. Demographic and clinical factors probably affect its values. Further studies with bigger number of participants are required.Key words: Electrical impedance, electrical impedance spectrum measurement, healthy oral mucosa     

CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin

Tetraspanins are thought to facilitate the formation of multiprotein complexes at cell surfaces, but evidence illuminating the biologic importance of this role is sparse. Tetraspanin CD151 forms very stable laminin-binding complexes with integrins alpha3beta1 and alpha6beta1 in kidney and alpha3beta1 and alpha6beta4 in skin. It is encoded by a gene at the same position on chromosome 11p15.5 as the MER2 blood group gene. We show that CD151 expresses the MER2 blood group antigen and is located on erythrocytes. We examined CD151 in 3 MER2-negative patients (2 are sibs) of Indian Jewish origin with end-stage kidney disease. In addition to hereditary nephritis the sibs have sensorineural deafness, pretibial epidermolysis bullosa, and beta-thalassemia minor. The 3 patients are homozygous for a single nucleotide insertion (G383) in exon 5 of CD151, causing a frameshift and premature stop signal at codon 140. The resultant truncated protein would lack its integrin-binding domain. We conclude that CD151 is essential for the proper assembly of the glomerular and tubular basement membrane in kidney, has functional significance in the skin, is probably a component of the inner ear, and could play a role in erythropoiesis.