Association between beta globin haplotypes, HBBP1 and HMOX1 polymorphisms in relation to HbF among sickle cell anemia patients: a study in Southwest Iran

Abstract

              <p>The haplotypes of β-globin gene cluster in patients with sickle cell anemia are associated with different clinical manifestations and fetal hemoglobin (HbF) levels. In addition, SNP in some genes within the β-globin gene cluster (HBBP1) and outside it (HMOX1) has been recently reported to be related to HbF levels. In this study, rs2071348 and rs2071746 polymorphisms in HBBP1 and heme oxygenase 1 (HMOX1) genes associated with different haplotypes and HbF levels in patients with sickle cell anemia were evaluated in comparison with healthy subjects. In this case-control study, 150 patients with sickle cell anemia (90 homozygous and 60 sickle-cell trait) were evaluated and compared with 50 healthy individuals referred to Shafa tertiary hospital in Ahvaz city of Khuzestan Province, Iran. HbF level was measured by alkali and acid electrophoresis. PCR-RFLP and ARMS-PCR methods were used to determine β-globin gene haplotypes and HBBP1 gene polymorphism, respectively. Arab-Indian was the most common genotype found in both homozygous and sickle-cell trait patients with a respective prevalence of 55.5 and 50% followed by homozygous Benin with 11.1 and 18.3% prevalence, respectively. The highest and lowest level of HbF were observed in Arab-Indian (24.1 ± 6.35) and Benin/Benin haplotypes (7.63 ± 2.29), respectively. A significant relationship was found between HbF level with rs2071746 A&gt;T polymorphism of HMOX1 gene (<em>P</em> &lt; 0.019) as well as with rs2071348 polymorphism of HBBP1 gene (<em>P</em> &lt; 0.034). However, there was no significant relationship between haplotypes with gene polymorphisms. Arab-Indian was the most common haplotype in this region. The HbF level was significantly higher in patients with Arab-Indian haplotype, patients with C genotype in rs2071348 polymorphism locus of HBBP1 gene, and patients with T genotype in rs2071746 polymorphism locus of HMOX gene.</p><br /><br />

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Effects of Nigerian red propolis in rats infected with Trypanosoma brucei brucei

Abstract

              <p>Propolis has a long history of use in folk medicine and possesses various biological activities. Effects of the methanol extract of Nigerian red propolis (NRP) in trypanosome-infected rats were studied. Mature albino Wistar rats (30) were randomly grouped into six (A–F). Groups A–E were infected with 1.0 × 10<sup>6</sup><em>Trypanosoma brucei brucei</em> organisms intraperitoneally. Group F was uninfected. On establishment of infection, groups A–C were treated orally with NRP at 600, 400 and 200 mg/kg body weight for five consecutive days while group D received diminazene aceturate at 7 mg/kg body weight intraperitoneally. Group E received equal volumes of DMSO solution for five consecutive days. Parameters monitored were mean group parasitaemia, packed cell volumes (PCV), haemoglobin concentrations (Hbc) and bodyweight changes. By day 16 post-infection (PI) parasitaemia was significantly higher in the DMSO control group E than in the NRP-treated groups. Mean group PCV, Hbc and weight loss were significantly (<em>p</em> &lt; 0.05) lower in DMSO control group when compared with all the other experimental groups. Rats treated with NRP (600 and 400 mg/kg) had significant (<em>p</em> &lt; 0.05) reduction in parasitaemia (day 16 PI), higher PCV, Hbc and weight gain than the DMSO control.</p><br /><br />

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Age-Related Differences in the Processing of Temporal Envelope and Spectral Cues in a Speech Segment.

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Objectives: As people age, they experience reduced temporal processing abilities. This results in poorer ability to understand speech, particularly for degraded input signals. Cochlear implants (CIs) convey speech information via the temporal envelopes of a spectrally degraded input signal. Because there is an increasing number of older CI users, there is a need to understand how temporal processing changes with age. Therefore, the goal of this study was to quantify age-related reduction in temporal processing abilities when attempting to discriminate words based on temporal envelope information from spectrally degraded signals.

Design: Younger normal-hearing (YNH) and older normal-hearing (ONH) participants were presented a continuum of speech tokens that varied in silence duration between phonemes (0 to 60 ms in 10-ms steps), and were asked to identify whether the stimulus was perceived more as the word “dish” or “ditch.” Stimuli were vocoded using tonal carriers. The number of channels (1, 2, 4, 8, 16, and unprocessed) and temporal envelope low-pass filter cutoff frequency (50 and 400 Hz) were systematically varied.

Results: For the unprocessed conditions, the YNH participants perceived the word ditch for smaller silence durations than the ONH participants, indicating that aging affects temporal processing abilities. There was no difference in performance between the unprocessed and 16-channel, 400-Hz vocoded stimuli. Decreasing the number of spectral channels caused decreased ability to distinguish dish and ditch. Decreasing the envelope cutoff frequency also caused decreased ability to distinguish dish and ditch. The overall pattern of results revealed that reductions in spectral and temporal information had a relatively larger effect on the ONH participants compared with the YNH participants.

Conclusions: Aging reduces the ability to utilize brief temporal cues in speech segments. Reducing spectral information-as occurs in a channel vocoder and in CI speech processing strategies-forces participants to use temporal envelope information; however, older participants are less capable of utilizing this information. These results suggest that providing as much spectral and temporal speech information as possible would benefit older CI users relatively more than younger CI users. In addition, the present findings help set expectations of clinical outcomes for speech understanding performance by adult CI users as a function of age.

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Rotational and Collic Vestibular-Evoked Myogenic Potential Testing in Normal Developing Children and Children With Combined Attention Deficit/Hyperactivity Disorder.

Objectives: Vestibular dysfunction in childhood can have a major effect on a child’s developmental process. Balance function has been reported to be poorer in children with attention deficit and hyperactivity disorder (ADHD) than in their typically developing peers. Due to contradictory available evidence and the paucity of research on vestibular function specifically in children with combined ADHD (cADHD), we designed this aged-matched study to assess vestibular function in children with cADHD.

Design: We enrolled 30 typically developing children (15 boys and 15 girls; mean age, 9 years 6 months; range, 7 to 12 years) and 33 children (19 boys and 14 girls; mean age, 9 years 0 months; range, 7 to 12 years) with cADHD diagnosed by our research psychiatrist. Typically developing controls were used to obtain normative data on vestibular testing and to examine the impact of age on the vestibular response parameters, and these results were compared with those of the cADHD group. All children underwent the sinusoidal harmonic acceleration subtype of the rotary chair test (0.01, 0.02, 0.08, 0.16, and 0.32 Hz) and the cervical vestibular-evoked myogenic potential (cVEMP) test.

Results: At all five frequencies in the sinusoidal harmonic acceleration test, there was no significant correlation between age and any of the following rotary chair response parameters in typically developing children: vestibulo-ocular reflex (VOR) gain, phase, asymmetry, and fixation index. Furthermore, there was no significant correlation between age and any of the following cVEMP parameters for the right and left ears of control group: p1 and n1 latency, amplitude, threshold, and amplitude ratio. Significantly higher VOR gains were observed for children with cADHD at frequencies of 0.01 (p = 0.001), 0.08 (p

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