Inheritance Pattern and Clinical Aspects of 93 Iranian Patients with Chronic Granulomatous Disease

Background

Chronic granulomatous disease (CGD) is a rare immunodeficiency due to a genetic defect in one of the NADPH-oxidase components. We studied CGD inheritance forms (autosomal recessive (AR) or X-linked (XL)) and AR-CGD subtypes in Iran.

Methods

Clinical and functional investigations were conducted in 93 Iranian CGD patients from 75 families.

Results

Most of the patients were AR-CGD (87.1%). This was related to consanguineous marriages (p?=?0.001). The age of onset of symptoms and diagnosis were lower in XL-CGD compared with AR-CGD (p?phox defect was the predominant subtype (55.5%). The most common clinical features in patients were lymphadenopathy (65.6%) and pulmonary involvement (57%). XL-CGD patients were affected more frequently with severe infectious manifestations.

Conclusions

Although XL-CGD is the most common type of the disease worldwide, only 12 patients (12.9%) were XL-CGD in our study. The relatively high frequency of AR-CGD is probable due to widely common consanguineous marriages in Iran.     

Tension - Type - Headache treated by Positional Release Therapy: A case report

Tension Type Headache (T.T.H) is the most prevalent headache. Myofascial abnormalities & trigger points are important in this type of headache which can be managed by Positional Release Therapy (PRT). This is a report of a 47 years old female patient with Tension Type Headache treated by Positional Release Therapy for her trigger points. She had a constant dull headache, which continued all the day for 9 months. A physiotherapist evaluated the patient and found active trigger points in her cervical muscles. Then, she received Positional Release Therapy for her trigger points. After 3 treatment sessions, the patient's headache stopped completely. During the 8 months following the treatment she was without pain, and did not use any medication. Positional Release Therapy was effective in treating Tension Type Headache. This suggests that PRT could be an alternative treatment to medication in patients with T.T.H if the effectiveness of that can be confirmed by further studies.     

Helicobacter pylori infection in patients with epilepsy

BackgroundThe possible role of Helicobacter pylori (HP) infection in extra-intestinal diseases has been suggested. The main purpose of this study was to determine the frequency of infection with HP in two groups of patients with epilepsy: patients with idiopathic generalized epilepsy (IGE) and patients with temporal lobe epilepsy (TLE), compared to healthy controls.MethodsIn this cross-sectional study a random sample of adult patients above 18 years of age with a diagnosis of IGE or TLE were recruited at the outpatient epilepsy clinic at Shiraz University of Medical Sciences, from January 2009 through June 2011. A group of healthy individuals were included as control group. For all patients and controls a urea breath test (UBT) was requested.ResultsThirty-four patients with IGE, 28 patients with TLE and 33 individuals as control were recruited. Positive UBT was observed in 21 individuals (61.8%) with IGE, 50% (14 patients) of patients with TLE and 72.7% (24 individuals) in control group. The difference between patients with IGE and control group was not significant (P = 0.3). The difference between patients with TLE and control group was not significant either (P = 0.068).ConclusionThe rate of HP infection was not higher in patients with epilepsy compared to healthy individuals. At the moment, there is not enough epidemiological data to support the role of HP infection in patients with either IGE or TLE.     

Effect of low-frequency electrical stimulation parameters on its anticonvulsant action during rapid perforant path kindling in rat

Low frequency stimulation (LFS) may be considered as a new potential therapy for drug-resistant epilepsy. However, the relation between LFS parameters and its anticonvulsant effects is not completely determined. In this study, the effect of some LFS parameters on its anticonvulsant action was investigated in rats. In all animals, stimulating and recording electrodes were implanted into the perforant path and dentate gyrus, respectively. In one group of animals, kindling stimulations were applied until rats achieved a fully kindled state. In other groups, different patterns of LFS were applied at the end of kindling stimulations during twenty consecutive days. In the first experiment the effect of LFS pulse numbers was investigated on its anticonvulsant action. Animals were divided randomly into three groups and 1, 4, and 8 packages of LFS (each pack contains 200 pulses, 0.1 ms pulse duration at 1 Hz) were applied five minutes after termination of kindling stimulations. Obtained results showed that 4 packages of LFS had the strongest anticonvulsant effects. Therefore, this pattern (4 packages) was used in the next experiment. In the second experiment, 4 packages of LFS were applied at intervals of 30 s and 30 min after termination of kindling stimulations. The strongest anticonvulsant effect was observed in the group received LFS at the interval of 30 s. Therefore, this pattern was selected for the third experiment. In the third experiment the effect of LFS at frequencies of 0.25 Hz and 5 Hz was investigated. The group of animals which received LFS at the frequency of 0.25 Hz showed somehow stronger anticonvulsant effect. The results indicate that different parameters of LFS have important role in induction of LFS anticonvulsant effects. Regarding this view, it seems that the slower LFS frequency and the shorter interval between LFS and kindling stimulations, the stronger anticonvulsant effect will be observed. But there is no direct relation between number of pulses and the magnitude of anticonvulsant effect of LFS.     

Bidirectional plasticity of calcium-permeable AMPA receptors in oligodendrocyte lineage cells

Oligodendrocyte precursor cells (OPCs), a major glial cell type that gives rise to myelinating oligodendrocytes in the CNS, express calcium-permeable AMPA receptors (CP-AMPARs). Although CP-AMPARs are important for OPC proliferation and neuron-glia signaling, they render OPCs susceptible to ischemic damage in early development. We identified factors controlling the dynamic regulation of AMPAR subtypes in OPCs from rat optic nerve and mouse cerebellar cortex. We found that activation of group 1 mGluRs drove an increase in the proportion of CP-AMPARs, reflected by an increase in single-channel conductance and inward rectification. This plasticity required the elevation of intracellular calcium and used PI3K, PICK-1 and the JNK pathway. In white matter, neurons and astrocytes release both ATP and glutamate. Unexpectedly, activation of purinergic receptors in OPCs decreased CP-AMPAR expression, suggesting a capacity for homeostatic regulation. Finally, we found that stargazin-related transmembrane AMPAR regulatory proteins, which are critical for AMPAR surface expression in neurons, regulate CP-AMPAR plasticity in OPCs.     

Pediatric trauma at tertiary-level hospitals in the aftermath of the Bam, Iran Earthquake

The Bam Earthquake caused one of the most destructive disasters from naturally occurring hazards in recent years. Children are one of the most vulnerable age groups during disasters, in terms of both physical and psychological injuries. The assessment of pedatric injuries in the aftermath of the Bam Earthquake is discussed is this article. Within one week of the Earthquake, 119 patients < 16 years of age were admitted to three tertiary-level referral hospitals in Tehran, Iran. Extremity, chest, and abdomen, and head and spinal column injuries were present in 83, 17, and 36 patients, respectively. Lower extremity injuries were more common than upper extremity injuries. A total of 65 operations were performed: 52 (80%) orthopedic, eight (12.3%) general, and five (7.7%) neurosurgical.     

Interaction of Bordetella pertussis filamentous hemagglutinin with human TLR2: identification of the TLR2‐binding domain

Filamentous hemagglutinin (FHA) is a major adhesion and virulence factor of Bordetella pertussis and also a main component of acellular pertussis vaccines. Interaction of FHA with different receptors on human epithelial and immune cells facilitates entrance and colonization of bacteria as well as immunomodulation of the host immune response. Three overlapping segments of the FHA gene were cloned in a prokaryotic expression vector and the recombinant proteins were purified. These recombinant fragments along with the native FHA protein were employed to assess their potential Toll‐like receptor (TLR) stimulatory effects and to localize the TLR binding region. TLR stimulation was monitored by applying HEK293‐Blue cell lines cotransfected with TLR2, 4, or 5 and a NF‐κB reporter gene. Culture supernatants were checked for secretion of the reporter gene product and IL‐8 as indicators of TLR stimulation. Native FHA was found to strongly stimulate TLR2, but not TLR4 or TLR5 transfected cells. Among recombinant FHA fragments only the fragment spanning amino acid residues 1544–1917 was able to exhibit the TLR2 stimulating property of FHA. Interaction of FHA with TLR2 suggests its involvement in induction of the innate immune system against Bordetella pertussis. The TLR2‐binding domain of FHA may contribute to immunoprotection against pertussis infection.