Amira Mili

Albaha University · Department of Biology

Background: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe mental retardation, absent speech, dysmorphic facial features, microcephaly, epileptic seizures, Electroencephalography (EEG) abnormalities and neurological problem. Four known molecular mechanisms lead to a deficiency in maternal UBE3A expression and conseq...

Background Pain and its opioid treatments are complex measurable traits. Responses to morphine in terms of pain control is likely to be determined by many factors, including the underlying pain sensitivity of the patient, along with nature and extent of the painful process, concomitant medications, genetic and other clinical and environmental facto...

Choroideremia is a rare X-linked recessive, hereditary retinal pigment epithelial dystrophy, characterized by night blindness and progressive constriction of the visual fields leading to blindness in young adulthood. In this study, we reported three cases of choroideremia belonging to a Tunisian family. Patients complained of vision loss and night...

Abbreviations: KA, keratoacanthoma; MSPC, multiple self-healing palmoplantar carcinoma; MSSE, multiple self-healing squamous epithelioma; SCC, squamous cell carcinoma

Blood pressure (BP) and heart rate (HR) profiles follow circadian rhythm and day-to-day variations. It has been established that cardiovascular parameters decreased in sleep with the lowering of physical and mental activity. Sleeping has a profound effect on the fluctuation of BP and HR rhythms. To compare the circadian variation of BP and HR betwe...

Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by the deficiency of glycogen debranching enzyme (AGL). It is characterized by hepatomegaly, progressive myopathy, cardiomyopathy and fasting hypoglycemia. Several mutations in AGL gene have been described in different populations. The W1327X mutation was reported...

Glycogen storage disease type III (GSD III) is an autosomal recessive inborn error of metabolism caused by mutations in the glycogen debranching enzyme amylo-1,6-glucosidase gene, which is located on chromosome 1p21.2. GSD III is characterized by the storage of structurally abnormal glycogen, termed limit dextrin, in both skeletal and cardiac muscl...

Steroid 11β hydroxylase deficiency (11β-OHD) (OMIM # 202010) is the second most common form of congenital adrenal hyperplasia (CAH), accounting for 5-8% of all cases. It is an autosomal recessive enzyme defect impairing the biosynthesis of cortisol. The CYP11B1 gene encoding this enzyme is located on chromosome 8q22, approximately 40kb from the hig...

Glycogen storage disease type III (GSD III) is an autosomal recessive inborn error of metabolism caused by mutations in the glycogen debranching enzyme amylo-1,6-glucosidase gene, which is located on chromosome 1p21.2. GSD III is characterized by the storage of structurally abnormal glycogen, termed limit dextrin, in both skeletal and cardiac muscl...

Mili A, Ben Charfeddine I, Amara A, MamaÏ O, Adala L, Ben Lazereg T, Bougulia J, Saad A, Limem K, Gribaa M. A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect. Glycogen storage disease type III (GSD III) is an autosomal recessive disorder characterized by excessive acc...

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder which is characterized by a high clinical variability with severe, intermediate, mild and adult forms. These forms are caused, in 95% of cases, by a homozygous deletion of exon 7 of SMN1 gene. Our purpose was the determination of a possible genotype-phenotype correlation...

The confirmation of type III glycogen storage disease diagnosis is based on histological explorations on to live and/or muscle biopsies that induce some problems of delay and sensitivity. The purpose of this study was to evaluate a fluorimetric technique for the determination of amylo-1,6-glucosidase activity in leukocytes, in order to confirm the...

Objective To determine the pattern of infectious agents causing tinea capitis (TC) in adult patients in adult patients in Tunisia. Methods From January 1990 to December 2005, we retrospectively collected all cases of adult TC, confirmed by the mycological examination. Results Sixty patients (18 male, 42 female) with a mean age of 34.5 years were di...

The dermatophytic disease is a chronic dermatophytosis involving the skin and viscera caused by common deratophytes, probably related to an autosomal recessive inheritance of a genetic defect. We report the observation of a 50-year-old man, without any particular family anteceents, having the history of scalp tinea in the childhood, who consulted f...