We herein report the case of a Japanese woman with familial dysalbuminemic hyperthyroxinemia (FDH) who was initially diagnosed with Graves' disease. Direct genomic sequencing revealed a guanine to cytosine transition in the second nucleotide of codon 218 in exon 7 of the albumin gene, which then caused a proline to arginine substitution. She was finally diagnosed with FDH, which did not require...

Focal dermal hypoplasia (FDH) is a rare mesoectodermal dysplasia syndrome characterized by cutaneous, skeletal, dental, ocular and soft-tissue defects. An X-linked dominant mode of inheritance with lethality in male subjects has been proposed. Only around 30 cases of FDH have been reported in male subjects. Live born affected males are mosaic for mutations in PORCN gene . We present the mosaic ...

An Asp/His catalytic site of 10-formyltetrahydrofolate dehydrogenase (FDH) was suggested to have a similar catalytic topology with the Asp/His catalytic site of serine proteases. Many studies supported the hypothesis that serine protease inhibitors can bind and modulate the activity of serine proteases by binding to the catalytic site of serine proteases. To explore the possibility that soybean...

Focal dermal hypoplasia (FDH) is a rare genetic skin disorder. The inheritance of FDH or Goltz-Gorlin syndrome is X-linked dominant and the disease is associated with a PORCN gene mutation. This gene plays a key role in the Wnt pathway, which has an impact on embryonic development. Every tissue derived from meso- and ectoderm can be affected. Patients suffer from cutaneous, ocular, osseous, ora...

This paper defines the properties of FDT (Flow Dependence Tail set) and FDH (Flow Dependence Head set), and presents two partitioning methods for finding two parallel regions in two-dimensional solution space. One is the region partitioning method by intersection of FDT and FDH. Another is the region partitioning method by two given equations. Both methods show how to determine whether the inte...

The objective of this study was to evaluate total phenolic content and antioxidant activity of leaf and different parts of fruit (hull, shell, and kernel) of Bene in Ilam province. Total phenolic content was determined with the Folin- Ciocalteu Reagent (FCR); antioxidant activity of methanolic extracts were examined by DPPH (2,2diphenyl- 1- picrylhydrazyl), FRAP (ferric reducing antioxidant pow...

Formate dehydrogenases (FDHs) are enzymes that catalyze the formate oxidation to carbon dioxide and that contain either Mo or W in a mononuclear form in the active site. In the present work, the influence of Mo and W salts on the production of FDH by Desulfovibrio alaskensis NCIMB 13491 was studied. Two different FDHs, one containing W (W-FDH) and a second incorporating either Mo or W (Mo/W-FDH...

Focal dermal hypoplasia (FDH) is a rare syndrome of severe developmental anomalies of the tissues and organs derived from ectoderm and mesoderm. Though data have suggested that FDH is an X-linked dominant trait associated with male hemizygote lethality, a hypothesis supported by the observation of three unrelated infants with FDH manifestations and de novo chromosome rearrangements involving Xp...

Section 2 FT-IR spectra of the NG/AuNPs, NG/AuNPs/FDH and NG/AuNPs/laccase Section 3 Control experiments at different electrode. Section 4 CV of the formic acid oxidation Section 5 Polarization curves of the NG/AuNPs/FDH electrode and G/AuNPs/FDH electrode Section 6 Crossover between the bioanode and biocathode Section 7 Dependence of power density on the formic acid concentration for EBFC Sect...

BACKGROUND Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features. CASE PRESENTATION a 4-year-old girl presented with microphthalmos and iris coloboma of the left eye, facial asymmetry, and a low-set protruding ear. Cutaneous changes included hypopigmented atrophic mac...