Dysmorphic face in two siblings with infantile neuroaxonal dystrophy

Dysmorphic face in two siblings with infantile neuroaxonal dystrophy. Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive, neurodegenerative disease with onset in the first or second year of life. It has been reported that INAD shows numerous phenotype characteristics including problems associated with vision, hearing and physical coordination. It has however been very rare to see facial dysmorphism in these children. The study analyzes a girl and boy of a first cousin marriage with infantile neuroaxonal dystrophy affected at birth. At infancy, the children were examined in the Cerrahpa a Medical Faculty Genetic Research Center, Istanbul. They had typical INAD features such as the lack of head control, vision, speech, sitting, and walking which are also seen in children with other congenital abnormalities. These children showed remarkable dysmorphism in the face which included prominent forehead, strabismus, small nose, fish mouth (boy), micrognathia. and large and low-settled ears. The presence of these facial features makes the patients appear unique and diagnosis more accurate. While these features are commonly seen diagnosis may be difficult at its onset. Until now this appearence has not been reported in INAD patients. In conclusion, in the first few months of life without any clinical or neurological signs, the physician should also consider diagnosing the disease of the infant as INAD

Age-related changes on glucose transport and utilization of human erythrocytes: Effect of oxidative stress

Background: Normal aging is associated with an impairment in glucose homeostasis, Methods: In order to investigate the effect of aging on glucose transport and utilization in erythrocytes, the transport and utilization of glucose were measured in erythrocytes from 10 young (mean age 26 +/- 3 years) and 10 elderly (mean age 70 +/- 7 years) healthy individuals. In addition, the glucose transport and utilization were also measured in the presence of cumene hydroperoxide (CumOOH), a toxic organic hydroperoxide that is known to induce oxidative stress. Results: The levels of glucose transport and utilization were significantly lower in the elderly group than the young group (p < 0.05). The glucose transport and utilization were not altered by CumOOH treatment in either young or elderly individuals. Conclusion: These results indicate an age-related decrease in the both glucose transport and utilization in erythrocytes

A variant of Cenani-Lenz type syndactyly

Cenani-Lenz syndrome is a form of complete syndactyly resembling the spoon hand in Apert syndrome. It Is often associated with disorganization of phalanges, the fusion of metacarpals and mesomelic shortness of the arm. We describe an additional case of Cenani-Lenz type of syndactylism in a 16 month-old girl who also has rib and vertebral abnormalities and mixed type hearing loss, that have not been seen before in a single patient

I-131 therapy in differentiated thyroid carcinoma patients with high thyroglobulin levels despite negative diagnostic I-131 scans

WOS: 00020296740119

The management of well differentiated carcinoma of the ectopic thyroid tissue

20th Annual Congress of the European-Association-of-Nuclear-Medicine -- 2007 -- Copenhagen, DENMARKWOS: 000253283901169European Assoc Nucl Me

Joubert syndrome co-existing with partial Xp trisomy: Review of the literature

Joubert syndrome co-existing with partial Xp trisomy. review of the literature: We report a five-year-old girl who has been clinically diagnosed as Joubert syndrome. Her cytogenetic analysis showed 46,XX,der(2)add(2q37) karyotype. Cytogenetic analysis of her mother and maternal grandmother revealed a karyogram designated as 46,X,t (X;2)(p11.2;q37). The proband's derivative chromosome was further confirmed to be a translocation chromosome 2 carrying segments from chromosome X, which originated from a segregation event of the maternal grandmother's balanced translocation passed on as a balanced translocation to the proband's mother either. So far, a number of candidate genes including EN1 on 2q were analyzed for Joubert syndrome. Based on our proband's abnormal karyotype, we suggest that further mapping studies for the syndrome should also be directed towards the chromosome X segments present on the derivative chromosome 2 of our proband

Serum thyroglobuline at the time of remnant ablation in predicting clinical outcome in patients with low risk differentiated thyroid carcinoma

WOS: 00020296740118