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2008

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Heavy Metals In Water Of The San Pedro River In Chihuahua, Mexico And Its Potential Health Risk, Roberto L. Gutierrez, Hector Rubio-Arias, Ray Quintana, Juan Angel Ortega, Melida Gutierrez Jan 2008

Heavy Metals In Water Of The San Pedro River In Chihuahua, Mexico And Its Potential Health Risk, Roberto L. Gutierrez, Hector Rubio-Arias, Ray Quintana, Juan Angel Ortega, Melida Gutierrez

College of Natural and Applied Sciences

The objective of this study was to determine the seasonal and downstream water quality variations of the San Pedro River in Chihuahua, Mexico. Water samples were collected monthly from October 2005 to August 2006 in triplicate, totaling 165 water samples. The five sampling locations were: below the Francisco I. Madero dam (LP); between Rosales and Delicias (RD); Meoqui (M); El Torreon (ET), and Julimes (LJ). The levels of As, Be, Ca, Cd, Co, Cu, Cr, Fe, Li, Mg, Mn, Mo, Ni, Pb, Sb, Se, Sr, Ti, Ta, V and Zn were measured using an Inductively Coupled Plasma-Optical Emission Spectrometry (ICP-OES) …

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Spotlight On Success: What's Working In Oregon High Schools? - Scappoose High School, Ginny Birky Jan 2008

Spotlight On Success: What's Working In Oregon High Schools? - Scappoose High School, Ginny Birky

Faculty Publications - College of Education

No abstract provided.

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Status Epilepticus In Children, Joseph M. Dooley Jan 2008

Status Epilepticus In Children, Joseph M. Dooley

Neurosciences

Status epilepticus is defined as a continuous seizure lasting for at least 30 minutes or recurrent seizures persisting for over 30 minutes, without recovery of consciousness. The estimated incidence in childhood is approximately 20 per 100,000 children per year. The incidence is higher in those under one year of age, with an incidence of approximately 50 per 100,000 per year. Among 1-4 year olds, approximately 30 per 100,000 per year will have an episode of status and in those aged 5-9 years, the incidence is approximately 10 per 100,000 per year. Those aged 10-15 years have the lowest incidence (approximately …

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Comparison Of The Physical And Non-Physical Functioning Between The Patients With Multiple Sclerosis And Healthy Subjects, Ali Kitis, Filiz Altug, Ugur Cavlak, Beyza Akdag Jan 2008

Comparison Of The Physical And Non-Physical Functioning Between The Patients With Multiple Sclerosis And Healthy Subjects, Ali Kitis, Filiz Altug, Ugur Cavlak, Beyza Akdag

Neurosciences

OBJECTIVE: To investigate the relationship between physical functioning, non-physical functioning, and upper extremity functional abilities in patients with multiple sclerosis (MS) and healthy subjects. METHODS: A total of 63 patients with MS [Expanded Disability Status Scale (EDSS) score; 3-8] and 52 healthy subjects attending the Pamukkale University, School of Physical Therapy and Rehabilitation in Denizli, Turkey were studied in the period from February 2006 to June 2006. To allow further evaluation, 63 individuals with MS were divided into 2 groups according to their ambulation ability level. The physical functioning was assessed with the Functional Independence Measure (FIM), the Purdue Pegboard …

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Predictors Of Outcome For Non-Traumatic Intracerebral Hemorrhage, Syed A. Jamil, Abdul S. Khan, Zekeriya Akturk Jan 2008

Predictors Of Outcome For Non-Traumatic Intracerebral Hemorrhage, Syed A. Jamil, Abdul S. Khan, Zekeriya Akturk

Neurosciences

OBJECTIVE: To evaluate the prognosis, neurologic outcome, and predictors of survival in patients with non-traumatic intracerebral hemorrhage. METHODS: We evaluated prospectively a cohort of 96 Saudi adult males and females with stroke during the month of July 2005 at Arar Central Hospital, Riyadh, Kingdom of Saudi Arabia. Out of 103 patients, 96 patients, who were diagnosed as having intracerebral hemorrhage (ICH) presenting to the emergency department for initial evaluation, were included, except those with recurrent intracerebral hemorrhage, arteriovenous malformation, subarachnoid hemorrhage, traumatic brain injury, hemorrhagic infarctions, and patients receiving anticoagulant therapy. No patient underwent any neurosurgical procedure. RESULTS: The results …

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Intraindividual And Interindividual Variations In Psychomotor Task Performance In Spontaneously Menstruating Women, Marwan S. Al-Nimer Jan 2008

Intraindividual And Interindividual Variations In Psychomotor Task Performance In Spontaneously Menstruating Women, Marwan S. Al-Nimer

Neurosciences

OBJECTIVE: To examine the variability in psychomotor task performance in women in reference to the menstrual cycle. METHODS: One hundred and eighty young women with spontaneous regular menstrual period of 30 days duration and 20 young men were assessed in the Department of Pharmacology, College of Medicine, Al-Mustansiriya University, Baghdad, Iraq during 2003. RESULTS: Women had significantly lower recognition as well as motor reaction time than men with wide inter and intraindividual variations. Women also had a lower critical flicker fusion frequency threshold than men with more variation. The changes in psychomotor performance are not specific for a certain phase …

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Stages Of Progression In Drug Abuse Involvement Across Generations In Jeddah, Saudi Arabia, Medhat M. Bassiony Jan 2008

Stages Of Progression In Drug Abuse Involvement Across Generations In Jeddah, Saudi Arabia, Medhat M. Bassiony

Neurosciences

OBJECTIVE: To investigate the stages of progression in drug involvement among adolescents and adults in Saudi Arabia. METHODS: One hundred and one consecutive male patients (91 adults and 10 adolescents), with substance abuse or dependence according to DSM-IV criteria, admitted to Al-Amal Hospital in Jeddah, Saudi Arabia, during July and August 2002 for treatment, were included in the study. All participants answered a questionnaire, which included questions pertaining to the ages and stages of progression in drug abuse. RESULTS: Adolescents started using tobacco and drugs at a younger age than adults. The difference is statistically significant for drugs (14.6 +/- …

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Tuberculous Osteitis Of The Skull In A Child, Mohammed Benzagmout, Said Boujraf, Khalid Chakour, Mohammed E. Chaoui Jan 2008

Tuberculous Osteitis Of The Skull In A Child, Mohammed Benzagmout, Said Boujraf, Khalid Chakour, Mohammed E. Chaoui

Neurosciences

Tuberculosis is endemic in developing countries. However, skull tuberculosis is uncommon with few cases reported in the literature. We report a 10-year-old boy admitted for a left parietal painless swelling. A CT scan demonstrated a left parietal bony defect, destroying both inner and outer tables. This was associated with an enhanced epidural collection and scalp swelling. The patient was operated, and the microscopic examination revealed typical tuberculosis granuloma. The clinical presentation and management of this rare location of tuberculosis are discussed.

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Dermatological Manifestations Of Epilepsy Among Adult Sudanese Epileptic Patients, Abbashar H. Mohmad, Amar E. Mohmad, Faroug Y. Omer, Amira S. Abdulgalil, Esam M. Ahmad, Mohmad M. Aldar Jan 2008

Dermatological Manifestations Of Epilepsy Among Adult Sudanese Epileptic Patients, Abbashar H. Mohmad, Amar E. Mohmad, Faroug Y. Omer, Amira S. Abdulgalil, Esam M. Ahmad, Mohmad M. Aldar

Neurosciences

OBJECTIVE: To study the pattern of dermatological changes associated with epilepsy among adult Sudanese epileptic patients. METHODS: This non-interventional descriptive study included 360 adult Sudanese epileptic patients and was conducted at the El Shaab Teaching Hospital, Khartoum, Sudan, from February 2004 to August 2007. All patients had full detailed history and clinical examination. A dermatologist assessed the dermatological changes. Investigations carried out included EEG, CT brain, and serial of drug serum levels. RESULTS: Out of 360 patients, 31 were found to have scars due to repeated attacks of convulsions, one patient was found to have neurofibromatoma, one had tuberous-sclerosis, one …

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Teratogenic Effects Of Gabapentin On Neural Tube And Limb Development In Mice, Mohammad Afshar, Mohammad J. Golalipour Jan 2008

Teratogenic Effects Of Gabapentin On Neural Tube And Limb Development In Mice, Mohammad Afshar, Mohammad J. Golalipour

Neurosciences

No abstract provided.

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Visual Evoked Potentials In Neurobrucellosis, Ufuk Ergun, Gunay T. Ertem, Gulnihal Kutlu, Ozlem Coskun, Levent E. Inan, Necla Tulek, Mustafa N. Ilhan Jan 2008

Visual Evoked Potentials In Neurobrucellosis, Ufuk Ergun, Gunay T. Ertem, Gulnihal Kutlu, Ozlem Coskun, Levent E. Inan, Necla Tulek, Mustafa N. Ilhan

Neurosciences

OBJECTIVE: To investigate whether visual evoked potentials (VEPs) are valuable for distinguishing between brucellosis with or without neurological involvement. METHODS: A total of 23 patients who were admitted to the Department of Infectious Diseases and Microbiology, and Neurology, Ministry of Health Ankara Education and Research Hospital, Ankara, Turkey between December 2004 and August 2005 with a diagnosis of brucellosis were included in this study. After a detailed neurological and ophthalmological examination, VEPs were recorded. The P100 latencies and amplitudes were compared between the group of brucellosis (n=17) and neurobrucellosis (n=6) patients. RESULTS: Although there was no difference in the mean …

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Poststroke Depressive Symptoms And Their Relationship With Quality Of Life, Functional Status, And Severity Of Stroke, Demet Unalan, Saliha Ozsoy, Ferhan Soyuer, Ahmet Ozturk Jan 2008

Poststroke Depressive Symptoms And Their Relationship With Quality Of Life, Functional Status, And Severity Of Stroke, Demet Unalan, Saliha Ozsoy, Ferhan Soyuer, Ahmet Ozturk

Neurosciences

OBJECTIVE: The present study aimed to investigate the relationship between depressive symptoms in 6 months after stroke and the quality of life (QOL), clinical and socio-demographical characteristics, functional status, and severity of stroke. METHODS: Ninety consecutive stroke patients who attended the neurology outpatient clinic at Erciyes University, Kayseri, Turkey from March 2004 to March 2005 were evaluated for the study. Seventy outpatients who had a stroke 6 months previously were included in the study. As a data-collecting device, Short Form 36, Functional Independence Measure (FIM), Canadian Neurological Scale, and Beck Depression Inventory (BDI) were used. In addition, a questionnaire was …

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Cerebral Venous Thrombosis. Clinical Presentation And Outcome In A Prospective Series From Sudan, Mohamed-Nagib A. Idris, Tag-Eldin O. Sokrab, Etedal A. Ibrahim, Samira M. Mirgani, Maha A. Elzibair, Rasha R. Osman, Maaz Abdalatif Jan 2008

Cerebral Venous Thrombosis. Clinical Presentation And Outcome In A Prospective Series From Sudan, Mohamed-Nagib A. Idris, Tag-Eldin O. Sokrab, Etedal A. Ibrahim, Samira M. Mirgani, Maha A. Elzibair, Rasha R. Osman, Maaz Abdalatif

Neurosciences

OBJECTIVE: To describe the presentation and outcome of treatment of cerebral venous thrombosis (CVT) in patients from Sudan, an example of a developing country. METHODS: In a prospective study, we described the clinical features, risk factors, and outcome of CVT in patients admitted to the National Center for Neurological Diseases, Khartoum, Sudan, the only specialized neurological hospital in the country, during the period from February 2001-October 2006. Patients were referred from other hospitals in the town or from nearby hospitals in Khartoum state. RESULTS: We recruited only adult and adolescent patients aging >/=15 years. We reviewed 15 patients (12 females …

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Community Pharmacists Attitudes Towards Mental Illness And Providing Pharmaceutical Care For Mentally Ill Patients, Mohammed N. Al-Arifi Jan 2008

Community Pharmacists Attitudes Towards Mental Illness And Providing Pharmaceutical Care For Mentally Ill Patients, Mohammed N. Al-Arifi

Neurosciences

OBJECTIVE: To examine the attitudes of community pharmacist to both mental illness and provision of pharmaceutical care. METHODS: The study was conducted from May 2006 to September 2006 in College of Pharmacy, King Saud University, Riyadh, Saudi Arabia. The survey composed of the demographic characteristics of the respondents, who were asked 6 Likert type questions on the attitudes of the pharmacists toward mental illness, providing pharmaceutical care to mentally ill patients, the barriers of the provision of the service and differentiation between different types of mental illness. RESULTS: Forty-three pharmacists participated in the study. Eighty-eight percent of the pharmacists felt …

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The Physical Activity Of Patients After Herniated Lumbar Disc Surgery, Yucel Yildirim, Bilge Kara, Nursen Teoman, Arzu Genc, Serhat Erbayraktar, Umit Acar Jan 2008

The Physical Activity Of Patients After Herniated Lumbar Disc Surgery, Yucel Yildirim, Bilge Kara, Nursen Teoman, Arzu Genc, Serhat Erbayraktar, Umit Acar

Neurosciences

OBJECTIVE: We evaluated the level of pain, disability, performance, and physical activity changes in patients who underwent lumbar disc hernia surgery. METHODS: This study included 31 patients who underwent lumbar disc hernia surgery in the Neurosurgery Department of Dokuz Eylul University Hospital, Izmir, Turkey over a 13-month period from April 2003 to May 2004. Changes in the patients’ pain were determined using a visual analog scale, and disability changes were evaluated using the Oswestry Disability Index. Total times for the following performance tests were recorded: rolling from right to left and vice versa, loaded reach, repeated sitting/standing, 50-foot walk, and …

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Sporadic Creutzfeldt Jacob Disease, Hussein A. Algahtani, Karim M. Qumosani, Imad M. Khojah, Abdulrahman M. Shami Jan 2008

Sporadic Creutzfeldt Jacob Disease, Hussein A. Algahtani, Karim M. Qumosani, Imad M. Khojah, Abdulrahman M. Shami

Neurosciences

We report a 65-year-old lady who presented with rapidly progressive dementia and was found to have Creutzfeldt-Jacob disease (CJD). On reviewing the literature, there have been only 3 case reports of CJD from Saudi Arabia. Our aim is to report this rare disease and to include it in the differential diagnosis of rapidly progressive dementia in our practice.

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Nalidixic Acid-Resistant Salmonella Enterica Serotype Typhi Infection Presenting With Sub-Intestinal Obstruction And Mesenteric Adenitis, Tarig S. Al-Khuwaitir, Amin A. Al-Zuhair, Ali G. Al-Ghamdi, Abdulaziz Khan Jan 2008

Nalidixic Acid-Resistant Salmonella Enterica Serotype Typhi Infection Presenting With Sub-Intestinal Obstruction And Mesenteric Adenitis, Tarig S. Al-Khuwaitir, Amin A. Al-Zuhair, Ali G. Al-Ghamdi, Abdulaziz Khan

Saudi Medical Journal

Nalidixic acid-resistant Salmonella typhi NARST infections increase minimal inhibitory concentrations of fluoroquinolones, due to chromosomal mutations in the gene encoding DNA gyrase, and can lead to a delayed treatment response. This in turn alters the course of the disease allowing for a protracted period of illness and the occurrence of complications. In this case report, we present a patient from the Indian sub-continent, who was diagnosed with NARST complicated by sub-intestinal obstruction, her diagnosis, treatment, and subsequent recovery.

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A Novel Method For Reprogramming Somatic Cells Into Embryonic Stem Cells, Walid E. Maalouf Jan 2008

A Novel Method For Reprogramming Somatic Cells Into Embryonic Stem Cells, Walid E. Maalouf

Saudi Medical Journal

No abstract provided.

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Management Of Cardiac Hydatid Cyst Disease, Mehmet R. Guney, Bulend Ketenci, Serdar Cimen, Batuhan Ozay, Sukru Aksoy, Bayer Cinar, Murat M. Demirtas Jan 2008

Management Of Cardiac Hydatid Cyst Disease, Mehmet R. Guney, Bulend Ketenci, Serdar Cimen, Batuhan Ozay, Sukru Aksoy, Bayer Cinar, Murat M. Demirtas

Saudi Medical Journal

No abstract provided.

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Noise Abatement And Night Deliveries, Hugh Finlay Jan 2008

Noise Abatement And Night Deliveries, Hugh Finlay

Masters

ABSTRACT The hypothesis is tested that – Acoustic materials are available or can be developed and applied to Heavy Goods Vehicles and ancillaries, which effectively and economically abate the noise caused by night deliveries The MPhil is a part of a wider innovation research partnership that aimed to develop sustainable solutions for the growing trend to night deliveries in Dublin city centre. The methodology involves; a review of international best practice for urban traffic noise abatement: a social and commercial justification for developing low noise products and procedures: field trials of kerb-side deliveries to city centre shops to identify the …

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Familiarity, Knowledge, And Attitudes Towards Epilepsy Among Attendees Of A Family Clinic In Amman, Jordan, Amira T. Masri, Farouq M. Shakhatreh, Nada A. Yasein, Farihan F. Barghouti, Abdelkarim A. Al-Qudah Jan 2008

Familiarity, Knowledge, And Attitudes Towards Epilepsy Among Attendees Of A Family Clinic In Amman, Jordan, Amira T. Masri, Farouq M. Shakhatreh, Nada A. Yasein, Farihan F. Barghouti, Abdelkarim A. Al-Qudah

Neurosciences

OBJECTIVE: To investigate the present familiarity, knowledge, and attitudes of Jordanians towards epilepsy. METHODS: This is a cross-sectional study that was conducted over a 6-month period, from April 2006 to October 2006 at the family clinic of Jordan University Hospital, Amman, Jordan. A face-to-face questionnaire interview was conducted with 600 non-epileptic adults who visited the clinic during the study period. RESULTS: The sample matched the overall Jordanian population for literacy rate, however, included a higher proportion of females, and consequently findings may be taken as being only moderately representative of the Jordanian population. Ninety-eight percent of the respondents had heard …

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Klippel-Trenaunay-Weber Syndrome With Partial Motor Seizures And Hemimegalencephaly, Shakeel Ahmed, Roshan Koul, Ahmed Wailey, Dilip Sankhala Jan 2008

Klippel-Trenaunay-Weber Syndrome With Partial Motor Seizures And Hemimegalencephaly, Shakeel Ahmed, Roshan Koul, Ahmed Wailey, Dilip Sankhala

Neurosciences

A girl with Klippel-Trenaunay-Weber syndrome with partial motor seizures is reported. She had hemimegalencephaly and band heterotopia on MRI of the brain.

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The Effect Of Long-Term Use Of Computer Mouse Devices On Median Nerve Entrapment, Fahaid H. Al-Hashem, Mohammad-Elhabeeb M. Khalid Jan 2008

The Effect Of Long-Term Use Of Computer Mouse Devices On Median Nerve Entrapment, Fahaid H. Al-Hashem, Mohammad-Elhabeeb M. Khalid

Neurosciences

OBJECTIVE: To assess the effect of long-term use of computer mouse devices on the median nerves. METHODS: A cross-section prospective study conducted during the year 2004 involved 41 male secretaries employed in the Health Colleges of King Khalid University in Abha, Kingdom of Saudi Arabia. A questionnaire describing sociodemographic and computer use was completed. The electrophysiological study included measurements of motor latencies, motor conduction velocities, and amplitudes of compound muscle action potential of the right median nerve and compared these with those of the left median nerve (control). All of our subjects were right handed. Terminal latency index (TLI) was …

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The Efficacy Of Dexamethasone Treatment In Adult Patients With Acute Bacterial Meningitis, Celal Ayaz, Mustafa K. Celen, Mehmet F. Geyik, Mehmet Ulug Jan 2008

The Efficacy Of Dexamethasone Treatment In Adult Patients With Acute Bacterial Meningitis, Celal Ayaz, Mustafa K. Celen, Mehmet F. Geyik, Mehmet Ulug

Neurosciences

OBJECTIVE: To evaluate the efficacy of dexamethasone added to the treatment of adult patients with bacterial meningitis in our region. METHODS: One hundred and forty-four patients were randomized prospectively and evaluated to determine the efficacy of dexamethasone treatment in adult patients with acute bacterial meningitis at Dicle University Hospital, Diyarbakir, Turkey between January 2000 and December 2004. While the first group received ceftriaxone 4 gr/day plus dexamethasone, the second group received ceftriaxone 4 gr/day only. Dexamethasone was given 10-15 minutes before the first 8 mg dose of antibiotic treatment. It was continued at 16 mg/day for 3 days. RESULTS: The …

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Peripartum Neurological Emergencies In A Critical Care Unit, Rami M. Al-Hayali, Dhaher J. Al-Habbo, Mohammed K. Hammo Jan 2008

Peripartum Neurological Emergencies In A Critical Care Unit, Rami M. Al-Hayali, Dhaher J. Al-Habbo, Mohammed K. Hammo

Neurosciences

OBJECTIVE: To assess the proportion of eclampsia among patients admitted to the critical care unit (CCU) with an acute neurological emergency in the peripartum period, and careful clinical, laboratory, and radiological evaluation of non-eclampsia cases responsible for such presentation. METHODS: A case series study that included women with acute deterioration of consciousness, with or without convulsions or neurological deficits, during pregnancy or puerperium, received in the CCU of Ibn Sina Teaching Hospital in Mosul, Iraq, from September 1st 2005 to August 31st 2006. A total of 30 women were included. They received careful clinical, radiological, and laboratory evaluation in an …

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Restless Leg Syndrome In The Differential Diagnosis Of Entrapment And Peripheral Neuropathies, Filiz Koc, Deniz Yerdelen Jan 2008

Restless Leg Syndrome In The Differential Diagnosis Of Entrapment And Peripheral Neuropathies, Filiz Koc, Deniz Yerdelen

Neurosciences

Restless leg syndrome (RLS) is an abnormal sensation disorder. Defining the syndrome is difficult. It is transmitted autosomal dominant genetically, is especially prevalent in the lower limbs, and is seen in both genders. In the differential diagnosis of RLS, nocturnal leg cramps, akathisia, peripheral neuropathy, entrapment neuropathy, and vascular disease (for example, deep vein thrombosis) should be considered. A 52-year-old woman was admitted to our clinic with signs of paresthesia, she had abnormal sensation disorder in both legs and the right arm, which she had difficulty defining. She had applied to another center with the same complaints and had been …

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Unusual Occurrence Of Cystic Fibrosis And Alobar Holoprosencephaly, Mathew P. Cherian, Nouriya A. Al-Sanna’A Jan 2008

Unusual Occurrence Of Cystic Fibrosis And Alobar Holoprosencephaly, Mathew P. Cherian, Nouriya A. Al-Sanna’A

Neurosciences

Holoprosencephaly (HPE) is a defect of embryonic forebrain resulting from failure of growth and segmentation of the anterior end of the neural tube. It has been classified into 4 types based on the severity of associated brain and facial malformations. The most severe variety called alobar HPE is generally associated with major cranio-facial anomalies such as cyclopia, ethmocephaly, cebocephaly, or cleft-lip/palate. Significant etiological heterogeneity exists in HPE and includes both genetic and environmental causes. Maternal diabetes is a well-established environmental factor with a significant increased risk for HPE. We report on a Saudi Arab girl born to a diabetic mother, …

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An Outbreak Of Aseptic Meningitis In Hatay Province, Turkey, Yusuf Onlen, Etem Ozkaya, Lutfu Savas, Faruk Incecik, Aylin Akcali Jan 2008

An Outbreak Of Aseptic Meningitis In Hatay Province, Turkey, Yusuf Onlen, Etem Ozkaya, Lutfu Savas, Faruk Incecik, Aylin Akcali

Neurosciences

No abstract provided.

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Psychiatric Morbidity Among Saudi Secondary Schoolteachers, Khalid S. Al-Gelban Jan 2008

Psychiatric Morbidity Among Saudi Secondary Schoolteachers, Khalid S. Al-Gelban

Neurosciences

OBJECTIVE: To measure the prevalence and severity of depression, anxiety, and stress among male secondary schoolteachers. METHODS: A cross-sectional study was conducted during the academic session 2004/5, covering the teachers of 65 boys’ secondary schools in Abha Educational Area, Aseer Region, Saudi Arabia. A study sample of 195 teachers was obtained using the random sampling technique. Data were collected using the Arabic version of the 42-item Depression, Anxiety, Stress Scale (DASS-42). RESULTS: Out of a total 195 teachers, 189 questionnaires were returned, yielding a response rate of 96.9%. Twenty-five percent had depression 43% had anxiety, and 31% of the participants …

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Merosin-Deficient Congenital Muscular Dystrophy In An Omani Boy, Amna Al-Futaisi, Almundher Almawali, Raghad Abdwani, Vasudev T. Rao, Hashim Javad, Roshan Koul Jan 2008

Merosin-Deficient Congenital Muscular Dystrophy In An Omani Boy, Amna Al-Futaisi, Almundher Almawali, Raghad Abdwani, Vasudev T. Rao, Hashim Javad, Roshan Koul

Neurosciences

Merosin-deficient congenital muscular dystrophy is an autosomal recessive disease that can manifest differently in different ethnic groups. This often presents as a floppy infant, and normal mental development. The creatine kinase is usually elevated with white matter abnormalities on brain imaging. In this report, we describe an infant with Merosin-deficient congenital muscular dystrophy who presented with delayed motor milestones and hypotonia. The clinical features, biopsy findings, and neuroimaging abnormalities in our patient are described.

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