ABSTRACT
Abetalipoproteinemia [ABL] is a very rare autosomal recessive disorder caused by mutations in the microsomal triglyceride transfer protein gene [MTTP]. ABL is characterized by lack of lipids and apolipoprotein B [apoB] in plasma, fat malabsorption and various clinical manifestations. We describe a 12-month-old infant boy, born from consanguineous parents and presented with diarrhea, steatorrhea, growth retardation, hypothyroidism, intraventricu-lar brain cyst and kidney stones. The patient was diagnosed to have ABL and treated with dietary modification and oral fat-soluble vitamin replacement and followed until he reached 5 years of age
Subject(s)
Humans , Infant , Male , Carrier Proteins , InfantABSTRACT
Multiple sclerosis [MS] is an inflammatory disease of central nervous system [CNS] and sexual dysfunction [SD] is one of the most common disabilities of MS women. The aim of this study was to determine sexual function of women with MS [multiple sclerosis]. One hundred definite MS patients MS patients and fifty age-matched healthy controls were enrolled. Demographic data [sex, age], duration of the disease and disease pattern extracted from patient's files and Kurtzke Expanded Disability Status Scale [EDSS] recorded for each patient by an expert neurologist. Participants were asked to answer the valid and reliable Persian version of Beck depression inventory [BDI] and Female Sexual Function Index [FSFI] questionnaires. The total FSFI score and subscale scores differed significantly between the MS patients and the controls. There was a significant negative correlation between EDSS and FSFI scores [rho=-0.44, P<0.001] and significant positive correlation between EDSS and BDI [rho=0.36,P<0.001] in patients. Mean BDI and all subscales of FSFI differed significantly between patients with total FSFI score higher and lower than 26.55. Sexual dysfunction should be considered in women with multiple sclerosis
ABSTRACT
Migraine is a chronic disorder affecting women more than men. Sexual dysfunction is one the complaints of women with migraine, which is not regarded as it should be. The goal of this study was to determine sexual dysfunction in women with migraine, and possible effects of depression and sleep quality on their sexual function. One hundred married migraineurs women were enrolled. All participants were asked to fill out valid and reliable Persian versions of Pittsburgh Sleep Questionnaire [PSQI], female sexual function index [FSFI] and beck depression inventory [BDI]. Mean BDI, PSQI, and FSFI scores were 15.1 +/- 9.1, 7.6 +/- 4, and 21.6 +/- 8.8 in all patients, respectively. Sexual dysfunction found in 68% and 79% were poor sleepers. Mean BDI and PSQI scores were significantly higher in women with sexual dysfunction [FSFI < 26.55]. There was significant negative correlation between BDI score and FSFI [r = -0.1, P = 0.001] as well as significant positive correlation between BDI and PSQI [r = 0.42, P < 0.001] Multiple linear regression analysis showed that BDI and age were independent predictors of FSFI score. Physicians should consider sexual dysfunction in women with migraine along with depression and poor sleep in such cases