Primordial dwarfism (PD) is a disease in which severely impaired fetal growth persists throughout postnatal development and results in stunted adult size. The condition is highly heterogeneous clinically, but the use of certain phenotypic aspects such as head circumference and facial appearance has proven helpful in defining clinical subgroups. In this study, we present the results of clinical ...

OBJECTIVE ACTH resistance syndromes are rare, autosomal, and genetically heterogeneous diseases that include familial glucocorticoid deficiency (FGD) and triple A syndrome. FGD has been shown to segregate with mutations in the gene coding for ACTH receptor (MC2R) or melanocortin 2 receptor accessory protein (MRAP), whereas mutations in the triple A syndrome (AAAS, Allgrove syndrome) gene have b...

poly (n-bromosuccinimide) (pnbs) as a mild, efficient, non-acidic, polymeric and heterogeneous catalyst was applied for simple conversion of epoxides into thiiranes by treatment with kscn or (nh2)2cs at room temperature. aliphatic and aromatic epoxides converted into their corresponding thiiranes under mild conditions. all reactions proceeded in short reaction times and afforded the correspondi...

in this research, zeolite a was synthesized from waste porcelain and cds nano-particles were doped in zeolite framework by a precipitation after an ion exchanging process. all raw and modified samples were characterized by ft-ir, xrd and sem methods. primary experiments showed that the good efficiency of loaded nano cds onto the zeolite a for photodecomposition of dimethyldisulfide (dmds) under...

background:  radiochromic film is used for radiation dose measurement, xr-rv3 is used in fluoroscopy and ebt2 film in radiation therapy. the aim was to determine if the dosimetric properties of these two films are comparable in megavolt photon beams. materials and methods: comparison measurements included: calibration curves, heterogeneous phantom dose profiles, and nasopharynx dose distributio...

background: hearing loss (hl) is the most frequent sensory birth defect in humans. autosomal recessive non-syn­dromic hl (arnshl) is the most common type of hereditary hl. it is extremely heterogeneous and over 70 loci (known as dfnb) have been identified. this study was launched to determine the relative contribution of more frequent loci in a cohort of arnshl families. methods: thirty-seven i...

We report a case of Turcot's syndrome in a 20-year old man with multiple adenomatous polyps of the colon and glioblastoma multiforme. Detailed histopathological study of all 25 polyps removed from his colon confirmed the distinct morphological and numerical features of the colonic polyposis in Turcot's syndrome. Moreover, 45% of the total polyps and all polyps with a diameter exceeding 2 cm sho...

Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems. The clinical presentation, onset, severity and progression rate of clinical manifestations of Morqui...

DQ beta and C4 null alleles have been defined in patients with rheumatoid arthritis, Felty's syndrome, and in control subjects. Comparison of DR4 positive subjects shows that rheumatoid disease without extra-articular features has no preferential associations with either DQ beta or C4 null variants. In Felty's syndrome there are significant associations with both the class II major histocompati...

The Ehlers-Danlos syndrome is an uncommon hereditary disorder of connective tissue. The main characteristics are joint hypermobility and skin hyperextensibility. Easy bruising, poor healing with wide gaping scars, and cardiovascular, gastrointestinal , orthopedic , and occular manifestations may also occur. The syndrome is considered heterogeneous [1] and different variants of the syndrome have...