Abstract:
BACKGROUND:Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. Patients with MCPH exhibit reduced occipito-frontal head circumference and non-progressive intellectual disability. To date, 17 genes have been known as an underlying cause of MCPH in humans. ASPM (abnormal spindle-like, microcephaly associated) is the most commonly mutated MCPH gene. OBJECTIVE:Identify the genetic defect underlying MCPH in a Saudi family. DESIGN:A cross-sectional clinical genetic study of a Saudi family. SETTING:Madinah Maternity and Children Hospital and Centre for Genetics and Inherited Diseases, Taibah University. PATIENTS AND METHODS:A molecular analysis was carried out on DNA samples from 10 individuals of a Saudi family segregating MCPH. DNA was isolated from the peripheral blood of 10 individuals, including 2 patients, and whole exome sequencing was performed using the Nextera Rapid Capture kit and NextSeq500 instrument. VariantStudio was used to filter and prioritize variants. MAIN OUTCOME MEASURE(S):Detection of mutation in the ASPM gene in a family segregating autoso- mal recessive primary microcephaly. RESULTS:A novel homozygous splice-site variant (c.3742-1G > C) in the ASPM gene was identified. The variant is predicted to have an effect on splicing. Human Splice Finder, an in silico tool, predicted skipping of exon 16 due to this variant. CONCLUSION:Skipping of exon 16 may change the order and number of IQ motifs in the ASPM protein leading to typical MCPH phenotype. LIMITATIONS:Single family study.
journal_name
Ann Saudi Medjournal_title
Annals of Saudi medicineauthors
Hashmi JA,Al-Harbi KM,Ramzan K,Albalawi AM,Mehmood A,Samman MI,Basit Sdoi
10.5144/0256-4947.2016.391subject
Has Abstractpub_date
2016-11-01 00:00:00pages
391-396issue
6eissn
0256-4947issn
0975-4466journal_volume
36pub_type
杂志文章abstract:BACKGROUND:Information on the epidemiology of viral hepatitis B, C and A in the Kingdom of Saudi Arabia (KSA) has accumulated over the last two decades. We review the changing epidemiology of these infections and suggest possible strategies for eradication. METHODS:We screened Saudi medical journals and Medline for re...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2003.367
更新日期:2003-11-01 00:00:00
abstract::Eighteen cases of traumatic fracture dislocation were managed surgically using a technique which involved an anterior cervical approach followed by discectomy, bone graft, and insertion of a metal plate. The patients were mobilized early to prevent the usual complications of bedsores, deep vein thrombosis, pulmonary e...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.1991.189
更新日期:1991-03-01 00:00:00
abstract::Thyroglossal duct cyst carcinoma is a rare malignancy, with an incidence of 0.7% to 1.6%. Most cases of thyroglossal duct cyst carcinoma are papillary carcinoma, with follicular carcinoma having been rarely reported. In this study, a 33-year-old man presented with a typical thyroglossal duct cyst and underwent surgica...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2018.305
更新日期:2018-07-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Infantile colic is a common problem among young infants. Cow's milk allergy has been suggested as one of the causes. We aimed to investigate the value of the cow's milk skin test for the diagnosis of cow's milk allergy in exclusively breast-fed infants with infantile colic. METHODS:Exclusivel...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章,随机对照试验
doi:10.4103/0256-4947.72269
更新日期:2010-11-01 00:00:00
abstract:BACKGROUND:Our objective in this study was to obtain information on the prevalence of fungi responsible for superficial mycoses in the region of Tripoli, Libya. PATIENTS AND METHODS:Skin scrapings collected from 2224 patients attending the Dermatology Clinic at Tripoli Medical Center with suspected clinical symptoms o...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2001.193
更新日期:2001-05-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:The current practice in Zagazig University Hospitals Laboratories (ZUHL) is manual verification of all results for the later release of reports. These processes are time consuming and tedious, with large inter-individual variation that slows the turnaround time (TAT). Autoverification is the p...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2014.427
更新日期:2014-09-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Body mass index (BMI) is the most widely used measure to define obesity and predict its complications, such as diabetes and hypertension, but its accuracy and usefulness in Saudi subjects is unknown. This study aimed to assess the validity of standard BMI cut-point values in the Saudi populati...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.4103/0256-4947.57165
更新日期:2009-11-01 00:00:00
abstract:BACKGROUND:The major function of rehabilitation and physical medicine specialists is to provide the proper therapy that helps in improving the physical activities of impaired, disabled and handicapped persons through improvement in their muscle strength. In performing their function, the rehabilitation team should alwa...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2002.177
更新日期:2002-05-01 00:00:00
abstract::In a study of 92 women with subchorionic hematoma evaluated with sonographic scan in King Khalid University Hospital, it was found that the mean ages and live births of patients who carried their pregnancies to viability were higher when compared with the patients who aborted. There was a statistically significant ass...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.1996.650
更新日期:1996-11-01 00:00:00
abstract::Although the medical literature contains adequate accounts of the pathophysiology of various benign prostatic disorders, it is often necessary to revisit these lesions, to reexamine the relationships between known benign lesions and more sinister, malignant disorders, in the light of new advances in our understanding ...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.1998.22
更新日期:1998-01-01 00:00:00
abstract::Many countries now struggle to provide cost-effective, quality healthcare services to their citizens. Saudi Arabia has experienced high costs along with concerns about quality of care in its public facilities. To address these issues the country is currently restructuring their healthcare system to privatize public ho...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2008.243
更新日期:2008-07-01 00:00:00
abstract::The authors reviewed six cases of multiple brain abscesses that were treated at King Khalid University Hospital (KKUH) over an eight year period. This represented 22% of the total brain abscesses treated during the same period. The series is unusual in that the infective pathogens were fungi (Fonsecaea pedrosoi) in tw...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.1994.30
更新日期:1994-01-01 00:00:00
abstract:BACKGROUND:Treatment of glioblastoma (GB), the most common malignant primary brain tumor in adults, can include alkylating chemo-therapeutic agents. Two molecular biomarkers of treatment response are MGMT (O6-methylguanine-DNA methyltransferase) promoter methylation and IDH (isocitrate dehydrogenase) mutations, which p...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2019.410
更新日期:2019-11-01 00:00:00
abstract::Case records of 33 patients treated for thyroglossal duct lesions at the King Fahd Hospital of the University, Al-Khobar between 1982G and 1992G were reviewed. There were 22 males and 11 females, their ages ranging between one and 35 years. Sixteen patients presented as cysts and 17 as sinuses. All cases were diagnose...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.1994.136
更新日期:1994-03-01 00:00:00
abstract::Recent reports indicate that nalidixic acid susceptibility correlates well with the clinical outcome of patients with Salmonella Typhi infection treated with quinolones. We report a case of enteric fever caused by S Typhi in which the isolate was resistant to nalidixic acid, but showed in vitro susceptibility to cipro...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.4103/0256-4947.65267
更新日期:2010-07-01 00:00:00
abstract:BACKGROUND:Indeterminate pulmonary nodules (IPNs) are common during initial evaluation of bladder cancer patients. Their significance is still unknown. OBJECTIVE:Determine the significance of indeterminate pulmonary nodules, including their size and number, in muscle-invasive bladder cancer patients before definitive ...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2019.42
更新日期:2019-01-01 00:00:00
abstract::During the past century, three major influenza pandemics took place, leading to a devastating number of deaths. Pandemics occur through the emergence of a new strain of influenza virus that can infect humans, to which there is little pre-existing immunity and which spreads easily from human to human. The H5N1 influenz...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2006.175
更新日期:2006-05-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Coronary artery calcification (CAC) is indicated by calcium deposits in the coronary artery wall. Calcification is a component of atherosclerosis and coronary artery disease. Currently, there are no data on calcification in Saudi women at high risk of coronary artery disease. The aim of this st...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2015.298
更新日期:2015-07-01 00:00:00
abstract:BACKGROUND:Pectus carinatum is a congenital chest wall deformity characterized by protrusion of the sternum and adjacent costal cartilages. Multiple treatment options are available for correction of pectus carinatum. OBJECTIVE:We report our initial experience with first-line treatment using a custom fitted dynamic com...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2016.70
更新日期:2016-01-01 00:00:00
abstract::Adverse cutaneous reactions are rarely seen with antipsychotics. Exanthematous eruptions, skin pigmentation changes, photosensitivity, urticaria, and pruritus have been previously reported. We report a bruise-like rash in a 4-year-old boy with risperidone use. The rash disappeared on discontinuation and then reappeare...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2020.436
更新日期:2020-09-01 00:00:00
abstract::A 28-month-old boy mistakenly received intranasal atropine sulfate instead of Otrivin (xylometazoline hydrochloride) for the treatment of adenoid hypertrophy. Later on, he came to the emergency department with anticholinergic manifestations after the administration of multiple drops. The child presented with a tonic-c...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2019.279
更新日期:2019-07-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Hepatitis B is a disease that is preventable with vaccination. Antibody levels after vaccination may be affected by suppression of the immune system due to cancer therapy. Children with cancer have a high risk of hepatitis B virus (HBV) infection. We aimed to assess the pretreatment immunizati...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.4103/0256-4947.87091
更新日期:2011-11-01 00:00:00
abstract:BACKGROUND:Fragile X syndrome is the most common cause of inherited mental retardation. Patients with fragile X syndrome show variable mental disability, typical long and narrow facial appearance with large ears and prominent fontanelle and frequent macro-orchidism. It is generally associated with a fragile site at Xq ...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2000.214
更新日期:2000-05-01 00:00:00
abstract:BACKGROUND:While the role of endoscopic retrograde cholangiopancreatography (ERCP) and endoscopic sphincterotomy (EST) in the diagnosis and management of choledocholithiasis is well established, this study evaluates the usefulness of ERCP and EST in patients with symptomatic cholecystolithiasis and suspected choledocho...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.1998.117
更新日期:1998-03-01 00:00:00
abstract::A series of fine-needle aspiration biopsies performed in 635 children were reviewed. The diagnosis rendered in these patients included malignant lymphoma in 139 (21.9%), Hodgkin's disease, 25 (3.9%); neuroblastoma, 58 (9.1%); Wilms' tumor, 37 (5.8%); Ewing's sarcoma, 32 (5.0%); rhabdomyosarcoma, 25 (3.9%); retinoblast...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.1991.366
更新日期:1991-07-01 00:00:00
abstract:BACKGROUND:Previous studies on gastrin levels in chronic pancreatitis (CP) patients have given conflicting results. These studies did not take into consideration the influence of Helicobacter pylori (H. pylori) infection on gastrin release. Also, there is no previous study that compared alcoholic CP patients to patient...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2001.9
更新日期:2001-01-01 00:00:00
abstract:BACKGROUND:Benign prostatic hyperplasia (BPH) develops in elderly males when serum androgens are relatively lower than in healthy younger males, but it is not well understood whether and how sex steroids are altered in prostatic hyperplasia. It is also uncertain whether there is any change in sex steroid levels in male...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2008.174
更新日期:2008-05-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Toxoplasmosis, caused by Toxoplasma gondii, is diagnosed mainly by serological methods that are hindered by insufficient sensitivity. When it fails, it becomes necessary to rely on either direct detection of the parasite or DNA detection by polymerase chain reaction (PCR). We aimed to establis...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.2012.14.7.1200
更新日期:2012-09-01 00:00:00
abstract::Over a seven-year period, 1093 cases of tumors of soft-tissue origin were recorded by the Pathology Department of King Fahd Hospital of the University, Al-Khobar. Of these, detailed histopathological analysis was performed on 685 tumors of adipose-tissue origin removed from 640 patients. Of the 45 multiple tumors, 31 ...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章
doi:10.5144/0256-4947.1991.28
更新日期:1991-01-01 00:00:00
abstract::Polycythemia vera is a Philadelphia chromosome-negative myeloproliferative neoplasm. Chronic lymphocytic leukemia is a monoclonal expansion of a CD5+ CD19+ B lymphocytes. Chronic myeloproliferative neoplasms may coexist with indolent B-cell malignant lymphomas of various types. The association of chronic lymphocytic l...
journal_title:Annals of Saudi medicine
pub_type: 杂志文章,评审
doi:10.5144/0256-4947.2016.364
更新日期:2016-09-01 00:00:00