Molecular characterization of autosomal recessive non syndromic hearing loss in selected families from district Mardan, Pakistan

Deafness is the most common sensory disorder, which affects 1/1000 neonates globally. Genetic factors are major contributors for hearing impairment. This study was conducted to explore the linkage of DFNB loci and their mutations with NSHL in selected Pakistani families. We included 10 families with history of deafness from district Mardan, Pakistan. Blood sample [5ml] along with personal and clinical information was collected from the available family members including both diseased and un-affected individuals. Genomic DNA was amplified using loci specific STR markers to investigate the linkage of DFNB loci. Family found linked with DFNB4 locus was screened for SLC26A4 mutations. One out of the ten explored families was found linked with DFNB4 locus which was further investigated for SLC26A4 gene mutation through direct DNA sequencing. Two novel mutations were observed in the studied family, one at splice donor site [164+2T>G] and the other at position 164+5C>G only in the affected members of the linked family. DFNB4 locus was found linked in the present study which harbors SLC26A4 gene. The novel mutation of SLC26A4 gene at the splice donor site results in skipping of the first coding exon and thus can lead to loss of expression of SLC26A4 product in the inner ear

Anaphylaxis: a life threatening but treatable condition

We present a case of perioperative anaphylaxis associated with the administration of intraoperative antibiotics. Perioperative anaphylaxis remains an important preventable cause of morbidity and mortality during anesthesia particularly if diagnosed early. Diagnosis can be challenging because multiple drugs are administered simultaneously during anaesthesia and surgery and any of these agents can potentially cause anaphylaxis. Early suspicion, immediate diagnosis and prompt management are vital as early specific management of anaphylaxis improves the outcome

[Developing a graphical algorithm to find the shortest rescue and relief paths in urban traffic network]

Fluid and safe transportation is one of the necessary infrastructures for improvement of industries, enhancement of welfare level and relief services in each country. However, finding optimal routes for emergency relief services in a busy traffic network has a special significance. In recent years, a great interest for traffic modeling and determination of optimum route has been created in dynamic traffic networks for rescue and relief services due to improvement of intelligent transport systems. In this library research paper, graphical algorithm has been developed in order to find the shortest accessing time and its corresponding path between a pair of given points in an urban traffic network. This algorithm has been composed of the Floyd-Warshall algorithm to find the shortest accessing time; the [PI] algorithm to find the shortest path corresponding to the shortest accessing time; and also Davidson traffic function to evaluate necessary time to move from a vertex to next one on a certain path. Then, using field studies and collecting traffic data, the algorithm is implemented on the traffic network. The described algorithm has been implemented on the traffic network of the downtown part of Shahroud city. Also, the shortest accessing time between each pairs of given points and its corresponding paths have been determined in order to rapid dispatch of relief vehicles. According to the results, it is possible to develop intelligent navigation systems with applying the algorithm. Those systems may be particularly used to organize and dispatch rescue vehicles to accident region

Frequency of tuberculosis in cervical lymphadenopathy

To determine the proportion of tuberculosis in patients presenting with cervical lymphadenopathy. This descriptive study was carried out from June 2007 to May 2010 in the Ear, Nose and Throat department, District Headquarters Hospital [DHQ] Lakki Marwat. Patients with enlarged cervical lymph nodes for more than six weeks duration, of either sex and of any age were approached for inclusion into the study. Out of 110, 20 were excluded as the cause was found to be acute inflammation in the throat. Ninety patients were included in the study. After a detailed history and clinical examination, excisional biopsy of the lymph nodes was performed in all these patients. Of 90 patients, 62 [68.9%] were males and the majority of patients had ages from 12-40 years. Tuberculous cervical lymphadenopathy was diagnosed in 67 [74.5%] patients, reactive hyperplasia in 10 [11.1%], metastasis to cervical lymph nodes in 6 [6.7%], lymphoma in 4 [4.4%] and Kikuchie's lymphadenitisin 3 [3.3%] cases. About 72 [80%] of the patients had involvement of multiple lymph nodes while 18 [20%] had single swelling. Sixty three [70%] of the patients had matted lymph nodes whereas discrete lymph nodes were found in only 18 [20%] cases. Tuberculosis is the commonest cause of cervical lymphadenopathy, with the majority of these patients having multiple lymph node involvement. Disease is more common in the younger age group and the group of lymph nodes most frequently affected is posterior cervical group

Comparative study of antimicrobial activities of various extracts of different piper fruits

In this study an attempt was made to assess the antimicrobial activity of various extracts of different Piper fruits available in the local market. Antimicrobial activity of 28 extracts at a single concentration of different Piper fruits of P. cubeba, P. chaba, P. longum and P. nigrum was evaluated against certain bacterial pathogens such as Staphylococcus albus, Salmonella typhi, Pseudomonas aeruginosa, Escherichia coli, Bacillus megaterium and fungus namely Aspergillus niger. All the extracts exhibited good antibacterial activity compared to the standard drug Streptomycin. All the extracts showed antifungal activity compared to Gresiofulvin. The activities were performed using disc diffusion method

Renal biopsy in systemic lupus patients with low level proteinuria, and its relation to urinary adhesive molecules

To assess whether systemic lupus [SLE] patients with levels of proteinuria <1000 mg/24h should be routinely biopsied, or we can depend on urinary adhesion molecules [ICAM-1 and VCAM-1] as markers for the severity of lupus nephritis [LN]. This study included 30 SLE patients with proteinuria <1000 mg/24h, and 20 SLE patients without proteinuria. Twenty healthy control subjects were also included. Basic laboratory parameter, RF, ANA, Anti-dsDNA, Complement C3 and C4, Urinary ICAM-1 and VCAM-1 and estimation urinary total proteins/24 hours were performed for each subject. Renal biopsy was also done in the indicated cases. Twenty three of thirty biopsies were diagnostic of lupus nephritis: 3 mild nephrosclerosis, 6 mesangial proliferation, 8 focal proliferative, 5 diffuse proliferative, and 1 membranous lupus nephritis. The levels of proteinuria were 94.5 +/- 22 mg/24h, 119 +/- 33 mg/24h and 725 +/- 180 mg/24h for control, patients without proteinuria and patients with proteinuria respectively. No statistical differences could be detected as regards to C3, C4, urinary ICAM-1 and urinary VCAM-1. Patients were reclassified according to the severity of renal histopathological changes into mildly and severely affected groups. We found no statistical differences between both groups as regards C3 and C4, but there were high statistical differences in urinary ICAM-1 and urinary VCAM-1 [P value <0.0005]. Our findings suggest that renal biopsy should be performed in these patients in the presence of new onset or rising proteinuria to enable prompt diagnosis of LN and initiation of treatment earlier in the course of the disease

Intracranial complications of chronic suppurative otitis media

To study the presentations of various intra cranial complications of chronic suppurative otitis media [SOM]. This prospective and descriptive study was conducted in the department of ENT, Lady Reading Hospital Peshawar from April 2006 to march 2007. All the cases with suspected intra cranial complications were admitted to the department and assessed clinically and radiologically. Audiological, and laboratory investigations were done as well. Out of 50 cases 36 were male and 14 female ranging from 10-40years in age. Complications like meningitis and brain abscesses were more common in males in the 2[nd] and 3[rd] decade of life [72%]. Most of the complications were from atticoantral diseases. The main presenting features were foul smelling otorrhea, headache, and fever, neck stiffness, chloestosteatoma and granulations in the ear. Meningitis [46%], temporal lobe abscess [36%] and extra dural abscess [14%] were the commonest complications. Burr hole aspiration, for intra cranial abscess and radical/modified radical mastoidecomy for SOM were the main surgical procedure carried out for these patients. Otogenic intra cranial complications like meningitis and brain abscesses are still common in spite of advances in the medical sciences. Complications are common in 2[nd] and 3[rd] decade of life. Meningitis is the commonest complication followed by brain abscess Burr whole aspiration with modified, radical mastoidectomy is the main stay of treatment along with parenteral antibiotics

Changes in serum levels of soluble interleukin-2 receptor and fas-ligand expression in relation to disease activity of systemic lupus erythematosus

Serum soluble IL-2 receptors [sIL2R] levels and Fas-ligand [Fas-L] expression on peripheral blood mononuclear cells [PBMC] were determined in patients with Systemic Lupus Erythematosus [SLE] to assess whether there was any relationship between them and disease activity. Enzyme Linked Immunosorbant assay [ELISA] technique was done on serum samples collected from 36 SLE patients and 25 healthy controls for determination of sIL2R level. RT-PCR was done also on PBMC samples collected from the same patients and controls for detection ofFas-L mRNA. We found significant increase of sIL2R in the SLE group [327.6 +/- 73.5 pg/ml] compared to healthy controls [119.7 _ 12.6 pg/ml] [p<0.001]. Levels of sIL2R were found to correlate significantly with clinical manifestation and serological markers of active SLE: fatigue [p<0.05], renal involvement [p<0.01], pulmonary involvement [p<0.05], high levels ofanti-ds DNA antibody [p<0.001] and high C3 level [p<0.0001]. Fas-L mRNA was expressed in PBMC from [88.9%] SLE patients and not detected in healthy controls. Fas-L positive SLE patients correlate significantly with clinical manifestation and serological markers of active SLE: fatigue [p<0.0001], rash [p<0.05], renal affection [p<0.001], high levels ofanti-ds DNA antibody [p<0.0001] and high C3 level [p<0.0001]. Levels ofsIL2R and Fas-L expression correlate significantly with disease activity [p<0.001, 0.001, 0.05, 0.005, respectively]. these findings indicate that sIL2R represent a new early useful serological marker to monitor disease activity in SLE patients. Fas-L expression increased in SLE patients, this increasing was in parallel to disease activity, so it is used as late marker to monitor the severity of the disease

Epstein-Barr virus [EBV] and EBV antibodies in adolescent systemic lupus erythematosus

To assess whether the adolescent systemic lupus erythematosus [SLE] patients had a presumed primary or reactivated EBV antibodies response as evidence of an active EBV infection. The study was conducted on serum samples collected from 35 adolescent SLE patients and 26 apparently healthy controls. EBV serologic response, VGA, IgG and IgM, EBNA antibody and anti-EA were measured with Enzyme Linked Immunosorbent Assay [ELISA]. PCR was done on peripheral blood mononuclear cells [PBMC] and saliva samples from same patients and controls for detection of EBV DNA. In addition, immortalization assay was done on PBMC and saliva samples for detection of active EBV. EBV serologic responses VGA IgM and IgG, EBNA antibody and EA antibody were detected in a high statistically significant level in adolescent SLE patients than healthy controls [p<0.0001, 0.001, 0.005 and 0.0001 respectively]. The incidence of primary EBV infection and reactive EBV infection in adolescent SLE patients studied according to serologic responses were 60% and 40% respectively. EBV serologic responses in healthy controls were in very low detectable level and classified as an EBV past-infection. EBV genomic material was not found in PBMC or saliva of patients or controls. We only detected in a single row active EBV with immortalization assay in PBMC of reactivated one SLE patient. Serologic profiles were more likely a consequence of immune dysregulation secondary to SLE or its therapy rather than rampant infection with EBV

Reduced quadriceps muscle functional performance in knee osteoarthritis

Reduced quadriceps strength is an early finding in subjects with knee osteoarthritis [OA]. The strength of flexor and extensor muscles of the knee joint was assessed with isokinetic dynamometry in patients with tibiofemoral and patellofemoral knee OA. To study the relationship of muscle strength with the severity of tibiofemoral and patellofemoral OA of the knee joint using functional performance isokinetic testing. This was to determine the role of reduced functional performance in quadriceps strength in knee osteoarthritis. The study was performed on 30 patients: [16 females and 14 males]. In the TFOA group the age was 48.8+4.47. In the 30 patients patellofemoral OA group, the age was 30.14+4.68. Isokinetic dynamometry testing of the quadriceps and hamstring muscles. The strength and functional isokinetic performance was found to be decreased in both groups more in TFOA than patellofemoral OA. Reduced functional performance of the lower extremity is an early predictor than radiographic changes of osteoarthritis, mainly osteophytes, in TFOA than in patellofemoral OA patients. This suggests that in chronic knee pain, the functional performance is important for evaluating knee osteoarthritis, perhaps more so than radiography

electromyographic assessment of F-wave in carpal tunnel syndrome: correlation study with MRI carpus and cervical spine

In this study we have analyzed the effect C.T.S. of focal median nerve injury carpal tunnel syndrome [CT] on F wave. We have determined the F wave parameters in C.T.S. patients and evaluate the relationship between F wave and severity of injury of CT and MRI finding of the wrist and cervical spine finding. The study was conducted on all patients[104] referred from out-patients clinic in the same hospital to electrophysiologic examination in Rheumatology, Physical Medicine and Rehabilitation Dep. and Radiology department, Al Hussein University Hospital as clinical assessed as a carpal tunnel syndrome, Standard electro diagnostic study was made on all of them bilaterally. MRI of carpal tunnel and cervical spine done for selected patients with C.T. S. According to F wave parameters, patients were divided into three groups, absent F-wave, abnormally prolonged F-wave and normal F-wave. According to electrophysiological testing results, the patients were grouped into mild, moderate or severe C.T.S. Absent F wave was presented in 8 hands [7.7%], prolonged latency in 9 hands [8.6%] and normal F wave in 87 of 104 hands [83.7%]. the mean F wave latency were statistically different between the C.T.S. patients and the normal values [CI 95%, p<0.0001]. Also, the entire F wave latencies were significantly prolonged in the severely injured group [p=0.0001]. F wave determination could show injury to proximal and also severe injury to distal parts of median nerve and especially axonal injury. According to abnormalities of this test the surgical release of nerve for prevention of irreversible changes must be considered. Results of our study supported the adding of F wave parameters study to standardize electrophysiological evaluation of C.T.S

Effect of modifiable and non-modifiable risk factors as predictors of functional outcome of stroke rehabilitation

The old myth that the survival of patients with complete stroke is not sufficiently long enough to justify the great expenses and efforts of rehabilitation has been disproved by recent studies which show that at least 50 percent of the survivors lived for 7.5 years or longer. The risk factors may act as stroke outcome predictors and hence determine the intensity and type of rehabilitation program. To investigate the stroke outcome predictors that will define groups of patients with maximal or minimal benefit from rehabilitation of stroke. This prospective study included 115 Ischemic stroke patients attending the Department of Rheumatology and Rehabilitation, Zagazig University Hospitals, Zagazig Health Insurance Hospital and Zagazig Rehabilitation Centre, Ministry of Social Affairs, Egypt during 2005-2006. All the patients were subjected to full history and clinical examination and routine investigations. We analyzed the influence of modifiable risk factors: diabetes mellitus [DM], hypertension [HTN], ischemic heart disease [IHD] and the duration before rehabilitation and non modifiable factors; age, sex and side of lesion on stroke outcome. All patients received regular rehabilitation and an evaluation at enrolling and discharge, using the modified Barthel Index. The study lasted for 9 months duration. Our results after statistical analysis showed that patients with ischemic heart disease [IHD] showed the greatest improvement after 4 months of rehabilitation. The group of patients without risk co-morbid factor followed and then patients with hypertension [HTN], patients with diabetes mellitus, patients with combined DM and HTN and patients with combined HTN and ischemic heart disease IHD. The group of patients known to have HTN, DM and IHD combined did not show significant improvement. The non modifiable risk factors age, sex and site of cerebrovascular lesion did not show any significant difference although younger patients showed better improvement without significant difference. Modifiable risk factors have a strong effect as predictors of functional outcome at rehabilitation. Patients with more than 2 risk factors as well as late entry for rehabilitation may have bad prognosis

Evaluation of transcranial doppler in neuro-Behcet's disease patients

To study the value of transcranial Doppler [TCD] in patients with neuro-Behcet's disease [Neuro-BD] and to correlate the findings with the MRI results. This study included 15 patients fulfilling the diagnostic criteria of international study group for Behcet's disease. MRI brain was done and evaluated for the presence of parenchymal lesions. Bilateral transcranial Doppler ultrasound of the middle [MCA], anterior [ACA] and posterior [PCA] cerebral arteries were performed in patient and control groups. TCD parameters were compared between 15 patients and age and sex matched control subjects. We found 12 [80%] patients had single or multiple brain lesions on MRI. Most of these lesions were of high signal intensity on T2-weighted images and located in the brainstem, basal ganglia and deep white matter region. TCD findings were abnormal in 5 [33.3%] patients. Pulsatility and resistivity indices of the MCA were significantly higher in patients than in normal control [p<0.001]. The mean blood flow velocity of the MCA and ACA was marginally reduced in patients with neuro-BD than in healthy controls, but did not reach a statistical significance [p>0.05]. No significant relation was found between abnormal MRI lesions and TCD parameters. Cerebral hemodynamics might be affected in patients with Behcet's disease compared with healthy controls. TCD may be a useful tool in the evaluation of patients with neuro-Behcet's disease

Clinical significance of anti-cyclic citrullinated peptide [anti-CCp] antibodies in juvenile idiopathic arthritis

Antibodies against cyclic citrullinated peptide [Anti-CCP] are considered to be specific for rheumatoid arthritis [RA]. To assess the clinical significance of anti-CCP antibodies in JIA, i.e. to determine if it can be detected in JIA patients and if they can be used to identify patients with a more destructive course of the disease. Fifty five JIA patients were included in this study. They represented the majority of subtypes of JIA patients. They were 14 boys and 41 girls with mean age 12.5 +/- 2.1 [Range 8-15.5 years] and mean disease duration 4.5 years [range 1-7.5 years]. One or more sera was taken from the patients at different time points of the disease course, 75 sera samples were analyzed using a commercial Kit using an Enzyme Linked Immunosorbent [ELISA] Assay. Our results showed that anti-CCP was positive in 7 patients [12.7%], 5 with polyarticular IgM-RF positive i.e. 5/12 [41.6%] and another 2 with oligoarthritis. This means that there was a significant difference between the prevalence of anti-CCP positivity in polyarticular IgM-RF positive subtypes and the other subtypes [p<0.05]. Disease duration, medications, and antinuclear antibody positivity effect did not show any significant difference between anti-CCP positive and negative patients. Follow up samples at different times also showed no significant difference of the anti-CCP results. Radiological joints damage was seen in 23 patients out of all the patients evaluated [41.8%]. All the patients with positive IgM-RF had radiological changes denoting joint damage, while 5/7 of anti-CCP positive JIA patients [71.4%] had those radiological changes with significant difference between anti-CCP positive and anti-CCP negative patients. Our study showed that anti-CCP autoantibodies can be detected in the sera of juvenile idiopathic arthritis patients, most exclusively in polyarticular IgM-RF positive patients. Longer prospective study with more patients sample will be necessary to verify whether these JIA patients with positive IgM-RF and anti-CCP constitute a differential subgroup with progressive destructive course similar to those of adult RA patients