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1.
Saudi J Kidney Dis Transpl ; 22(5): 917-21, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21912019

RESUMO

Patients on regular hemodialysis (HD) suffer from a chronic illness that is believed not to involve the thyroid gland. However, they may have low levels of serum thyroxine (T4) and tri-iodothyronine (T3). It was found earlier that serum total T3 and free T4 concentrations were significantly higher immediately after a HD session than before. In this single-center prospective study, we evaluated the difference between free T3 (FT3), free T4 (FT4) and thyroid-stimulating hormone (TSH) levels before and immediately after HD sessions in 40 Saudi patients with end-stage renal disease undergoing regular HD at the Prince Salman Center for Kidney Disease, Riyadh, Saudi Arabia. The study involved 23 female and 17 male patients with a mean age of 49.65 ± 16.20 years. None of the study patients had any known thyroid disease. We measured the thyroid hormones monthly for three successive months using the electrochemiluminescence technique both before and after HD sessions. At the end of our study, we found a statistically significant difference between pre-HD and post-HD levels for FT3; in the first month, it was 4.47 ± 1.01 versus 4.86 ± 1.03 pmol/L, (P = 0.004); in the second month, it was 4.48 ± 1.37 versus 4.83 ± 1.64 pmol/L, (P = 0.008); and in the third month, it was 3.84 ± 0.88 versus 4.04 ± 0.84 pmol/L, (P = 0.003). The FT4 in the first month was 15.42 ± 2.75 pmol/L versus 17.20 ± 2.85 pmol/L, P = 0.000, in the second month it was 14.86 ± 2.66 versus 16.74 ± 3.27 pmol/L, P = 0.000 and in the third month it was 14.86 ± 3.93 versus 16.70 ± 4.00 pmol/L, P = 0.000, respectively. However, the pre- and post-HD levels of TSH did not show any statistically significant difference; in the first month it was 3.17 ± 1.47 versus 3.32 ± 1.39 pmol/L, P = 0.254, in the second month it was 2.57 ± 1.36 versus 2.49 ± 1.29 pmol/L, P = 0.299 and in the third month it was 2.36 ± 1.17 versus 2.44 ± 1.22 pmol/L, P = 0.238, respectively. Thus, there was a statistically significant increase in the post-HD levels of FT3 and FT4 although the TSH levels did not show any significant change. Our study suggests that measurement of TSH alone might be more reliable in the assessment of thyroid function in patients on regular HD than FT3 and FT4.


Assuntos
Falência Renal Crônica/sangue , Diálise Renal , Tireotropina/sangue , Tiroxina/sangue , Tri-Iodotironina/sangue , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Arábia Saudita
2.
Mol Vis ; 15: 2464-9, 2009 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-19956407

RESUMO

PURPOSE: To catalog mutations that underlie retinitis pigmentosa (RP) in Saudi Arabia using a representative sample. METHODS: Fifty-two patients with RP were recruited and their homozygosity mapping, with or without linkage analysis, was used to suggest the causative genes followed by bidirectional sequencing. RESULTS: Mutations were identified in 94% of our study cohort, including seven that were novel. CONCLUSIONS: Homozygosity mapping is an extremely robust approach in the study of retinitis pigmentosa in the setting of high rates of consanguinity. BBS3 mutations can rarely present as nonsyndromic RP.


Assuntos
Povo Asiático/genética , Retinose Pigmentar/genética , Sequência de Aminoácidos , Sequência de Bases , Mapeamento Cromossômico , Sequência Conservada , Análise Mutacional de DNA , Feminino , Ligação Genética , Homozigoto , Humanos , Masculino , Dados de Sequência Molecular , Mutação de Sentido Incorreto/genética , Linhagem , Arábia Saudita
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