Abstract:
INTRODUCTION:Arginine is an essential amino acid that plays an important role in various body functions including cell division, wound healing, removal of ammonia, immune function, and release of hormones. Hyperargininemia, an autosomal recessive genetic disorder, is considered one of the least common urea cycle disorders. It rarely presents in the neonatal period but rather appears in children at the age between 2 and 4 years. CASE PRESENTATION:Herein, we demonstrate a case of a 14-year-old female who presented to the neurology clinic with several neurological complications, which were found to be a consequence of high levels of arginine discovered after performing a metabolic screening test. The hyperargininemia was because of a point mutation of A1 gene on 6q23 resulting in deficiency in arginase enzyme. The complications of this lately diagnosed case of hyperargininemia would have been avoided if a newborn screen were done as a part of a national program. CONCLUSION:This study presented certain neurological complications in a 14-year-old female who was lately diagnosed with hyperargininemia. Out case report strongly emphasizes the importance of establishing a national neonatal screening policy to ensure early detection of inherited metabolic disorders, in particular those which can be easily treated, in the Kingdom of Bahrain.
journal_name
Medicine (Baltimore)journal_title
Medicineauthors
Bakhiet M,AlAwadi AMI,AlHammadi MM,Ali MF,Butti Ndoi
10.1097/MD.0000000000010780subject
Has Abstractpub_date
2018-05-01 00:00:00pages
e10780issue
20eissn
0025-7974issn
1536-5964pii
00005792-201805180-00050journal_volume
97pub_type
杂志文章相关文献
MEDICINE文献大全abstract:BACKGROUND:According to the mechanisms of action, combination therapy of anabolic and antiresorptive agents may produce more effect for the treatment of osteoporosis. However, the combination therapy of anabolic agents and bisphosphonates reports no benefit and even reduced the anabolic effects of anabolic agents. This...
journal_title:Medicine
pub_type: 杂志文章,meta分析
doi:10.1097/MD.0000000000009534
更新日期:2017-12-01 00:00:00
abstract:ABSTRACT:There is no established protocol regarding the timing of administration of antiemetics in patients undergoing total knee arthroplasty (TKA). The purpose of this study was to determine whether preoperative, rather than postoperative administration of an antiemetic could reduce postoperative nausea and vomiting ...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000024143
更新日期:2021-01-08 00:00:00
abstract:BACKGROUND:Talaromyces marneffei (T marneffei), known as a significant pathogen in patients with AIDS in Southeast Asia, is a dimorphic fungus, which can cause deadly systematic infection in immunocompromised hosts. What is more, the dimorphic phase transition has been reported as a conspicuous process linked with viru...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000023409
更新日期:2020-11-25 00:00:00
abstract::Breast cancer is the most common cancer in women worldwide; thus, the prolongation of survival, and the incidence and risk factors, including radiotherapy, for developing secondary malignancies are important. We compared the incidence of secondary and new primary cancers in women with breast cancer (CA) and well-match...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000005556
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND:Prevalence estimates of heterotopic ossification (HO) following cervical artificial disc replacement (ADR) varied widely in previous studies. We conducted a systematic review and meta-analysis to summarize its point prevalence. METHODS:Electronic searches of PubMed, Web of Science, Embase, and Cochrane Libr...
journal_title:Medicine
pub_type: 杂志文章,meta分析,评审
doi:10.1097/MD.0000000000007163
更新日期:2017-06-01 00:00:00
abstract::Rheumatoid arthritis (RA) is a chronic systemic inflammatory disease. To date, the specific mechanisms that drive RA disease remain unknown and provide the impetus for genetic investigations into the development of RA. Researchers hope to identify gene polymorphisms that could serve as treatment targets in patients wi...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000010177
更新日期:2018-03-01 00:00:00
abstract:BACKGROUND:Breast cancer survivors experience various symptoms associated with their cancer interventions, and the benefits of acupuncture for these symptoms have been evaluated in clinical trials worldwide. The purpose of this review was to discuss the current status of clinical research regarding the use of acupunctu...
journal_title:Medicine
pub_type: 杂志文章,评审
doi:10.1097/MD.0000000000011793
更新日期:2018-08-01 00:00:00
abstract::To determine the association between mammographic density (MD) and the risk of breast cancer (BC) in Chinese women and to investigate the role of fertility risk factors in regulating the relationship between MD and BC.We used Quantra software and the BI-RADS classification to assess MD in 466 patients and 932 controls...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000023112
更新日期:2020-11-13 00:00:00
abstract::Craniofacial abnormalities are a known obstructive sleep apnea (OSA) risk factor, but still need to be better characterized. This study investigates the relationship between mandibular width and the risk of developing OSA.We retrospectively analyzed 3D reconstructions of head and neck computed tomography (CT) scans at...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000014040
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND:To assess the safety and efficacy of percutaneous short-segment pedicle instrumentation compared with conventionally open short-segment pedicle instrumentation and provide recommendations for using these procedures to treat thoracolumbar fractures. METHODS:The Medline database, Cochrane database of Systemat...
journal_title:Medicine
pub_type: 杂志文章,meta分析,评审
doi:10.1097/MD.0000000000012535
更新日期:2018-10-01 00:00:00
abstract:BACKGROUND:To determine the efficacy of magnetic stimulation (MS) in female patients with stress urinary incontinence (SUI) by performing a meta-analysis on peer-reviewed randomized controlled trails (RCTs). METHODS:PubMed, Embase, and Cochrane library were retrieved for any peer-reviewed original articles in English....
journal_title:Medicine
pub_type: 杂志文章,meta分析
doi:10.1097/MD.0000000000015572
更新日期:2019-05-01 00:00:00
abstract::Atrial remodeling plays a significant role during the progression of atrial fibrillation (AF). Left atrial wall thickness (LAT) is a subjective and easily acquirable indicator referring to structural remodeling. Therefore, we aimed to investigate the association between LAT and atrial remodeling substrate, and to expl...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000015170
更新日期:2019-04-01 00:00:00
abstract::Uveal melanoma (UM) is the major intraocular malignancy in adults, of which the molecular biology is still unknown. Therefore, this study was designed to determine the aqueous concentrations of angiogenic, inflammatory, and chemotactic cytokines in eyes with UM.Aqueous humor samples were collected from 38 patients wit...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000014030
更新日期:2019-02-01 00:00:00
abstract::Noninvasive computed tomography angiography (CTA) is widely used in acute ischemic stroke, even for diagnosing various internal carotid artery (ICA) occlusion sites, which often need cerebral digital subtraction angiography (DSA) confirmation. We evaluated whether clinical outcomes vary depending on the DSA-based occl...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000005722
更新日期:2017-02-01 00:00:00
abstract::We investigated the degree of pain reduction following intra-articular (IA) pulsed radiofrequency (PRF) stimulation of the sacroiliac joint (SIJ) in patients with chronic SIJ pain that had not responded to IA corticosteroid injection. Twenty patients were recruited. Clinical outcomes after applying PRF stimulation of ...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000007367
更新日期:2017-06-01 00:00:00
abstract:BACKGROUND:Knee osteoarthritis (KOA), also known as degenerative osteoarthritis, is a common and frequently occurring disease in orthopedics with cartilage degeneration as the pathogenic cause and articular bone hyperplasia as the sign. Many studies have confirmed that KOA can be effectively treated by traditional Chin...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000024115
更新日期:2021-01-08 00:00:00
abstract::Primary hepatic neuroendocrine tumors (PHNETs) are very rare and their clinical features and treatment outcomes are not well understood. It is difficult to reach a proper diagnosis before biopsy or resection. The aim of this study was to analyze the imaging features of PHNETs on contrast-enhanced ultrasound (CEUS). Th...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000003450
更新日期:2016-05-01 00:00:00
abstract::This study was conducted to estimate the 25-hydroxyvitamin D (25 (OH)D) levels and explore factors related to vitamin D deficiency/insufficiency. This was a multicenter, hospital-based, cross-sectional observational study. Children admitted to hospitals for health examination were included for vitamin D measurement an...
journal_title:Medicine
pub_type: 杂志文章,多中心研究
doi:10.1097/MD.0000000000022463
更新日期:2020-10-30 00:00:00
abstract:BACKGROUND:Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver condition worldwide. However, its etiology and fundamental pathophysiology for the disease process are poorly understood. In this study, we thus used bioinformatics to identify candidate genes potentially causative of severe NAFLD. ME...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000007743
更新日期:2017-08-01 00:00:00
abstract::The positive results of recent trials for the treatment of acute ischemic stroke have highlighted the importance of imaging selection before endovascular therapy. We performed a stratified meta-analysis to confirm this new understanding. We searched EMBASE, PubMed, Cochrane Central Register of Controlled Trials, and C...
journal_title:Medicine
pub_type: 杂志文章,meta分析
doi:10.1097/MD.0000000000001539
更新日期:2015-09-01 00:00:00
abstract:BACKGROUND:Drug resistant epilepsy (DRE) is very common among children and adults and studies had found some related risk factors for DRE, while the results were not consistent. The aim of this study was to identify risk factors for drug-resistant epilepsy. METHODS:Three electronic databases (Medline, Embase and Cochr...
journal_title:Medicine
pub_type: 杂志文章,meta分析
doi:10.1097/MD.0000000000016402
更新日期:2019-07-01 00:00:00
abstract::Hand-foot-and-mouth disease (HFMD) is a common childhood infection that may lead to serious complications and even death. Globally, epidemics of HFMD are increasing each year, especially in China. This study aimed to identify risk factors for death in children with critical and severe HFMD in Chongqing, China.We perfo...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000008934
更新日期:2017-12-01 00:00:00
abstract::Calcific aortic valve disease (CAVD) is highly prevalent in our aging world and has no effective pharmaceutical treatment. Intense efforts have been made but the underlying molecular mechanisms of CAVD are still unclear.This study was designed to identify the critical genes and pathways in CAVD by bioinformatics analy...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000021286
更新日期:2020-07-17 00:00:00
abstract:BACKGROUND:To assess the efficacy and safety of tranexamic acid (TA) in reducing blood loss and lowering transfusion needs for patients undergoing caesarean section (CS) or vaginal delivery (VD). METHODS:An electronic literature search of PubMed, EMBASE, OVID, Cochrane library, Scopus, Central, and Clinical trials.gov...
journal_title:Medicine
pub_type: 杂志文章,meta分析,评审
doi:10.1097/MD.0000000000005653
更新日期:2017-01-01 00:00:00
abstract:INTRODUCTION:The current evidence confirms the effectiveness and safety of several drug interventions in the treatment of acute flares of gout, however, the most preferred drugs are still unclear. We, therefore, seek to conduct a network meta-analysis that can systematically compare non-steroidal anti-inflammatory drug...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000019668
更新日期:2020-04-01 00:00:00
abstract::We evaluated the tumor response and survival according to the KRAS oncogene status in locally advanced rectal cancer. One hundred patients with locally advanced rectal cancer (cT3-4N0-2M0) received preoperative radiation of 50.4 Gy in 28 fractions with 5-fluorouracil and total mesorectal excision. Tumor DNA from each ...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000001284
更新日期:2015-08-01 00:00:00
abstract:RATIONALE:Malignant peripheral nerve sheath tumor (MPNST) is a very rare sarcoma of the heart, and few cases have been reported. Herein, we retrospectively reviewed clinical manifestations, imaging features and management of our patient and other reported cases. PATIENT CONCERNS:A 32-year-old woman was referred to the...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000017463
更新日期:2019-11-01 00:00:00
abstract::To compare results for radiological prediction of pathological invasiveness in lung adenocarcinoma between radiologists and a deep learning (DL) system.Ninety patients (50 men, 40 women; mean age, 66 years; range, 40-88 years) who underwent pre-operative chest computed tomography (CT) with 0.625-mm slice thickness wer...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000016119
更新日期:2019-06-01 00:00:00
abstract::Pyogenic liver abscess (PLA) are space-occupying lesions in the liver associated with high morbidity and mortality. The aim of this study is to review an Italian hospital experience in epidemiological, clinical patterns, and management of PLA.We performed a retrospective, descriptive case series at a single center ass...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000010628
更新日期:2018-05-01 00:00:00
abstract::The purpose of this study was to determine the trends in consumption of antibiotics and evaluate the antibiotic prescription rates in the pediatric population in Lithuania during 2003 to 2012.A cross-sectional study. Data of systemic antibiotic use in pediatric population for outpatient treatment was derived from Nati...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000017220
更新日期:2019-11-01 00:00:00