Publications by authors named "Fatemeh Hayati"

17 Publications

  • Page 1 of 1

Pulmonary hypertension among patients undergoing hemodialysis.

J Renal Inj Prev 2017 4;6(2):122-126. Epub 2016 Dec 4.

Chronic Renal Failure Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

The epidemiology of pulmonary hypertension (PHT) among long-term hemodialysis patients has been described in relatively small studies in Iran. The purpose of this study was to evaluate the prevalence of PHT and its relationship among end-stage renal disease (ESRD) patients undergoing long-term hemodialysis (HD). In a cross-sectional study, patients with ESRD treated with HD for at least 3 months in the Imam hospital enrolled for the study. PHT was defined as an estimated systolic pulmonary artery pressure (PAP) equal to or higher than 25 mm Hg using echocardiograms performed by cardiologist. A total of 69 HD patients were included in the investigation. The mean of age of our patients was 52.6±15.3 years. The mean duration of HD was 39±36 months. The mean ejection fraction was 45±7%. The prevalence of PHT was 62.3%. These patients were more likely to have lower ejection fraction. The PHT was more common among female HD patients. We did not find any association between PHT and cause of ESRD, duration of HD, anemia and serum calcium, phosphor and parathyroid hormone levels. Our findings show that PHT is a common problem among ESRD patients undergoing maintenance HD and it is strongly associated with heart failure. It is necessary to screen this disorder among these patients.
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http://dx.doi.org/10.15171/jrip.2017.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423279PMC
December 2016

Hepatitis E Virus Infection Among Chronic Hemodialysis.

Jundishapur J Microbiol 2016 Mar 17;9(3):e26645. Epub 2016 Mar 17.

Department of Internal Medicine, Chronic Renal Failure Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, IR Iran.

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http://dx.doi.org/10.5812/jjm.26645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4877441PMC
March 2016

Prevention of cisplatin nephrotoxicity.

J Nephropharmacol 2016 22;5(1):57-60. Epub 2015 Aug 22.

Chronic Renal Failure Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Cisplatin has a well-established role in the treatment of broad spectrum of malignancies; however its use is limited because of cisplatin-induced nephrotoxicity (CIN) which can be progressive in more than 50% of cases. The most important risk factors for CIN include higher doses of cisplatin, previous cisplatin chemotherapy, underlying kidney damage and concurrent treatment with other potential nephrotoxin agents, such as aminoglycosides, nonsteroidal anti-inflammatory agents, or iodinated contrast media. Different strategies have been offered to diminish or prevent nephrotoxicity of cisplatin. The standard approach for prevention of CIN is the administration of lower doses of cisplatin in combination with full intravenous hydration prior and after cisplatin administration. Cisplatin-induced oxidative stress in the kidney may be prevented by natural antioxidant compounds. The results of this review show that many strategies for prevention of CIN exist, however, attention to the administration of these agent for CIN is necessary.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5297508PMC
August 2015

Diabetes and end-stage renal disease; a review article on new concepts.

J Renal Inj Prev 2015 1;4(2):28-33. Epub 2015 Jun 1.

Chronic Renal Failure Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

It is well established that diabetic nephropathy is the most common cause or in combination with hypertensive nephropathy are the most common causes of end-stage renal disease (ESRD) in developed and developing countries. For this review, we used a variety of sources by searching through PubMed, Embase, Scopus, Current Content and Iran Medex from January 1990 up to December 2014. Manuscripts published in English and Persian languages, as full-text articles, and or as abstract were included in the study. Patient survival in diabetics on maintenance renal replacement therapy including hemodialysis (HD), peritoneal dialysis (PD) and kidney transplantation is significantly lower than that seen in nondiabetics with ESRD. The poor prognosis of diabetic patients with ESRD is partly due to presence of significant cardiovascular disease, problems with vascular access, more susceptible to infections, foot ulcer, and hemodynamic instability during HD. Although, many complications related to kidney transplantation may occur in diabetic ESRD patients, multiple studies have found that the kidney transplantation is the preferred renal replacement therapy for diabetic patients with ESRD and it is associated with a much better survival and quality of life than dialysis among these patients.
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http://dx.doi.org/10.12861/jrip.2015.07DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459725PMC
June 2015

Comparison of survival in patients with end-stage renal disease receiving hemodialysis versus peritoneal dialysis.

Saudi J Kidney Dis Transpl 2015 Mar;26(2):392-7

Department of Pediatric, Jundishapour University of Medical Sciences, Ahvaz, Iran.

Although the life expectancy of patients with end-stage renal disease (ESRD) has improved in recent years, it is still far below that of the general population. In this retrospective study, we compared the survival of patients with ESRD receiving hemodialysis (HD) versus those on peritoneal dialysis (PD). The study was conducted on patients referred to the HD and PD centers of the Emam Khomini Hospital and the Aboozar Children's Hospital from January 2007 to May 2012 in Ahvaz, Iran. All ESRD patients on maintenance HD or PD for more than two months were included in the study. The survival was estimated by the Kaplan-Meier method and the differences between HD and PD patients were tested by the log-rank test. Overall, 239 patients, 148 patients on HD (61.92%) and 91 patients on continuous ambulatory PD (CAPD) (38.55%) with mean age of 54.1 ± 17 years were enrolled in the study. Regardless of the causes of ESRD and type of renal replacement therapy (RRT), one-, two- and three-year survival of patients was 65%, 51% and 35%, respectively. There was no significant difference between type of RRT in one- (P-value = 0.737), two- (P-value = 0.534) and three- (P-value = 0.867) year survival. There was also no significant difference between diabetic and non-diabetic patients under HD and CAPD in the one-, two- and three-year survival. Although the three-year survival of diabetic patients under CAPD was lower than that of non-diabetic patients (13% vs. 34%), it was not statistically significant (P-value = 0.50). According to the results of the current study, there is no survival advantage of PD during the first years of initiation of dialysis, and the one-, two- and three-year survival of HD and PD patients is also similar.
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http://dx.doi.org/10.4103/1319-2442.152559DOI Listing
March 2015

In reply to "the relationship between erythropoietin resistance and antibody response to hepatitis B vaccine in hemodialysis patients".

Nephrourol Mon 2013 Nov 13;5(5):1010-1. Epub 2013 Nov 13.

Department of Internal Medicine, Faculty of Medicine, Jundishapur University of Medical Sciences, Ahvaz, IR Iran.

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http://dx.doi.org/10.5812/numonthly.14330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3955282PMC
November 2013

Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome.

Jpn J Clin Oncol 2014 May 30;44(5):506-11. Epub 2014 Mar 30.

*Center for Neuroscience Services and Research, and Human Genome Center, School of Medical Sciences, USM Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia.

Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, respectively. TSC2/PKD1 contiguous gene deletion syndrome is a very rare condition due to deletion involving both TSC2 and PKD1 genes. Tuberous sclerosis complex cannot be easily diagnosed since there is no pathognomonic feature, although there are consensus diagnostic criteria for that. Mutation analysis is useful and plays important roles. We report here two novel gross deletions of TSC2 gene in Malay patients with tuberous sclerosis complex and TSC2/PKD1 contiguous gene deletion syndrome, respectively.
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http://dx.doi.org/10.1093/jjco/hyu024DOI Listing
May 2014

The protective effect of theophyline in cisplatin nephrotoxicity.

Saudi J Kidney Dis Transpl 2014 Mar;25(2):333-7

Islamic Azad University, Omidiyeh, Khuzestan, Iran.

Cisplatin is a potent and a major anti-neoplastic drug in the treatment of a broad spectrum of malignancies. However, its clinical use is limited by renal tubular dysfunction that occurs in a significant percent of patients. The aim of the present study was to evaluate the possible protective effect of theophyline in the prevention of cisplatin-induced nephrotoxicity. The trial design was prospective, randomized, double-blinded and placebo controlled. Chemotherapeutic patients who received cisplatin at a dosage of at least 50 mg/m 2 alone or in combination with other chemotherapy agent(s) were included in the study. There were a total of 76 patients who were randomly divided into two groups. In group 1 (n = 38), placebo was advised; in group 2 (n = 38), patients received 4 mg/kg aminophyline as an intravenous loading dose, followed by theophyline in a dose of 200 mg three times daily orally for four consecutive days. The placebo group had 22 males and 16 females and the theophyline group had 26 males and 12 females. The mean age was 51 ± 17.6 years and the mean dose of cisplatin was 86.71 ± 43.18 mg. The prevalence of cisplatin nephrotoxicity in groups 1 and 2 was 7.9 and 5.3%, respectively, and the difference was not significant (P = 1). In addition, there was no significant association of cisplatin nephrotoxicity with age (P = 0.1), gender (P = 0.64) and mean dose of cisplatin (P = 0.8). These results indicate that prophy-lactic application of aminophyline and theophyline does not have a protective effect against cisplatin nephrotoxicity.
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http://dx.doi.org/10.4103/1319-2442.128528DOI Listing
March 2014

Dose kidney transplant nephrectomy stop disease progression in plasma exchange resistant post transplant hemolytic uremic syndrome? A case report.

J Nephropathol 2013 Jan 1;2(1):85-9. Epub 2013 Jan 1.

Department of Chemistry, Behbahan Branch, Islamic Azad University, Behbahan, Iran.

Background: Two different case reports, which have been published previously, suggested that bilateral nephrectomy can improve sever and refractory hemolytic uremic syndrome (HUS) in adults without a history of transplantation. At this study, kidney transplant nephrectomy in a patient with sever post transplant HUS was investigated.

Case: Patient was a 55 years old man with a single small size kidney and end-stage renal disease (ESRD). He had received a kidney from an unrelated donor three months before admission. The patient was admitted with fever and acute renal failure. Clinical and laboratory evaluation wereconsistent with sever De novo hemolytic uremic syndrome (HUS). Different therapeutic regimens administered in this patient including intensive plasma exchange, plasma infusion, empirical antibiotics, and high doses of corticosteroid. Although Cyclosporine was changed to Tacrolimus. After 45 days of treatment, patient's condition did not improve and sever thrombocytopenia (10000-15000/µL) developed. Patient was also suffered from severe hypersensitivity reaction (fever, chills, and itching) following each plasma exchange. Kidney transplant nephrectomy was done. However, sever post operativebleedingoccurred.HUS and thrombocytopenia did not improve and patient died two days after operation.

Conclusions: According to this experience, Kidney transplant nephrectomy may not be an effective treatment and is not recommended in the treatment of severe and refractory post transplant HUS.
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http://dx.doi.org/10.5812/nephropathol.8944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3886173PMC
January 2013

Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.

Gene 2014 Jan 5;533(1):240-5. Epub 2013 Oct 5.

Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, USM Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia.

Background: Hyperargininemia is a very rare progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. Until now, some mutations were reported worldwide and none of them were of Southeast Asian origins. Furthermore, most reported mutations were point mutations and a few others deletions or insertions.

Objective: This study aims at identifying the disease-causing mutation in the ARG1 gene of Malaysian patients with hyperargininemia.

Methodology: We employed a series of PCR amplifications and direct sequencing in order to identify the mutation. We subsequently used quantitative real-time PCR to determine the copy number of the exons flanking the mutation. We blasted our sequencing data with that of the reference sequence in the NCBI in order to obtain positional insights of the mutation.

Results: We found a novel complex re-arrangement involving insertion, inversion and gross deletion of ARG1 (designated g.insIVS1+1899GTTTTATCAT;g.invIVS1+1933_+1953;g.delIVS1+1954_IVS2+914;c.del116_188;p.Pro20SerfsX4) commonly shared by 5 patients with hyperargininemia, each originating from different family. None of the affected families share known relationship with each other, although four of the five patients were known to have first-cousin consanguineous parents.

Conclusion: This is the first report of complex re-arrangement in the ARG1. Further analyses showing that the patients have shared the same geographic origin within the northeastern part of Malaysia prompted us to suggest a simple molecular screening of hyperargininemia within related ethnicities using a long-range PCR.
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http://dx.doi.org/10.1016/j.gene.2013.09.081DOI Listing
January 2014

Effect of intranasal DDAVP in prevention of hypotension during hemodialysis.

Nefrologia 2012 ;32(1):89-93

Department of Internal Medicine, Faculty of Medicine, Jundishapur University of Medical Sciences, Ahvaz, Iran.

Introduction: The development of intradialytic hypotension during hemodialysis (HD) in which fluid removal is the primary goal, contributes to the excessive morbidity that is associated with the dialysis procedure.

Materials And Methods: In a double blinded clinical trial, we compared the possible effect of intranasal DDAVP with intranasal distilled water as a placebo in prevention of intradialytic hypotension (IDH) in patients with known symptomatic IDH. In the first month of the study, nasal spray of distill water were administrated 30 minutes before all HD session (Placebo Group, Group 1) and then after a 30-day washout period we were used intranasal DDAVP 30 minutes before HD session (Vasopressin Group, Group 2). Blood pressure was measured just before HD, two hours later and after termination of HD. A hypotensive episode was defined as a decline of systolic blood pressure of more than 10mm Hg.

Results: In overall Seventeen patients (nine men, eight women; mean age, 47.5 years) with known symptomatic IDH were enrolled in the study. The kind of dialysis membranes, mean of blood flow rate, dialyzate flow rate and ultrafiltration rate were the same in both groups. Each group has 204 HD session (17 * 12). Hypotensive episode occurred 18 times (8.82%) in vasopressin group compared with 125 times (61.27%) in placebo group and there was a significant association between them (p=0.0001). In addition mean arterial blood pressure in vasopressin group was 80.77 and in placebo group was 73.92 and also there was a significant association (p=0.0001). The mean Kt/v in group 1 and 2 were 1.29 and 1.28 without any differences between them (p=0.896).

Conclusion: These results indicate that Compared with placebo, Vasopressin is significantly associated with a decreased incidence of intradialytic hypotension episodes during hemodialysis.
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http://dx.doi.org/10.3265/Nefrologia.pre2011.Nov.10967DOI Listing
May 2012

Oral nicotinamide reduces serum phosphorus, increases HDL, and induces thrombocytopenia in hemodialysis patients: a double-blind randomized clinical trial.

Nefrologia 2011 ;31(1):58-65

Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Khuzestan, Iran.

Background: Recently, nicotinamide has been suggested as an effective drug for hyperphosphatemia in hemodialysis patients. The authors assessed the efficacy and safety of nicotinamide in these patients with lower doses and longer duration than other studies.

Methods: Forty eight patients with fasting serum phosphorus >5 mg/dl enrolled in this randomized clinical trial study and were randomly assigned to two equal-sized groups of nicotinamide or placebo. The study lasted 8 weeks. In the first four weeks, nicotinamide was administered at 500 mg/day, and in the second four weeks at 1,000 mg/day. Blood samples were tested at baseline, week 4, and week 8.

Results: In nicotinamide group, the mean phosphorus level decreased from 5.9 ± 0.58 mg/dl to 4.77 ± 1.43 mg/dl in week 4 (P = 0.002) and to 4.66 ± 1.06 mg/dl in week 8 (P = 0.000). The mean calcium-phosphorus product decreased significantly with the same pattern as phosphorus. High-density lipoprotein level increased from 42.46 ± 8.01 mg/dl to 55.71 ± 11.88 mg/dl in week 4 (P = 0.000) and to 65.25 ± 20.18 mg/dl in week 8 (P = 0.000). Levels of serum calcium, uric acid, SGOT, SGPT, and iPTH didn't change significantly. Compared to baseline, the platelet counts were decreased in both week 4 and week 8. No significant changes were observed in placebo group.

Conclusions: In our patients, nicotinamide effectively decreased phosphorus, increased high-density lipoprotein, and caused thrombocytopenia. Since nicotinamide lowered platelet counts and caused thrombocytopenia in lower doses than other studies in these patients, it is necessary to plan other studies for assessing the safety of the drug especially in different populations.
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http://dx.doi.org/10.3265/Nefrologia.pre2010.Nov.10734DOI Listing
August 2011

Evaluation of acquired cystic kidney disease in patients on hemodialysis with ultrasonography.

Iran J Kidney Dis 2010 Jul;4(3):223-6

Department of Nephrology, Faculty of Medicine, Jundishapour University of Medical Sciences, Ahvaz, Iran.

Introduction: Acquired cystic kidney disease (ACKD) occurs in patients with prolonged uremia, and early detection is important, because clinically significant complications, especially renal cell carcinoma, are associated with ACKD.

Materials And Methods: In a cross-sectional study, we evaluated our patients on hemodialysis, in Ahvaz, Iran, using ultrasonography. The criteria for the diagnosis of ACKD were the presence of at least 4 bilateral renal cysts in patients with noncystic primary kidney diseases as the leading cause of kidney failure.

Results: A total of 148 patients (95 men and 53 women) were included in the study. The prevalence of ACKD was 20.3% (18.9% in men and 22.6% in women). The mean age in patients with and without ACKD was 60.6 +/- 16.8 years and 53.6 +/- 14.9 years, and the mean hemodialysis duration was 44.2 +/- 18.7 months and 34.3 +/- 23.5 months, respectively. There were no significant differences in the frequency of ACKD in the men and the women (P = .59) and in the etiology of end-stage renal disease (P = .64). It was significantly more likely to see ACKD in patients with a history of 3 years or longer being on hemodialysis than in those with a shorter dialysis duration (P = .001).

Conclusions: Acquired cystic kidney disease is common in patients on hemodialysis, and we suggest that renal ultrasonography be performed in patients with 3 years or more history of being on renal replacement therapy.
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July 2010

Survival at 1, 3, and 5 years in diabetic and nondiabetic patients on hemodialysis.

Iran J Kidney Dis 2010 Jan;4(1):74-7

Department of Internal Medicine, Faculty of Medicine, Jundishapur University of Medical Sciences, Ahvaz, Iran.

We analyzed survival of 185 adult patients on maintenance hemodialysis (9 h/wk to 12 h/wk) at Emam Khomini Hospital in Ahvaz, Iran. Patient survival at 1, 3, and 5 years was 89.2%, 69.2%, and 46.8%, respectively. There was no significant difference between diabetic and nondiabetic patients in 1-year survival (87.1% versus 89.7%, P = .66). But, 3- and 5-year survival rates of diabetic patients were significantly lower than those of nondiabetic patients (52.2% versus 73.8%, P = .04; zero versus 56.9%, P < .001; respectively). Based on our findings, the survival of diabetic patients undergoing hemodialysis was much worse than survival of nondiabetic patients. Thus, prevention of diabetic nephropathy should be more emphasized; and if end-stage renal disease is present, other renal replacement therapies such as kidney transplantation must be considered as soon as possible.
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January 2010

Renal biopsy findings in Iran: case series report from a referral kidney center.

Int Urol Nephrol 2010 Dec 6;42(4):1031-40. Epub 2010 Jan 6.

Division of Nephrology, Department of Internal Medicine, Iran University of Medical Sciences, Hasheminejad Kidney Center, Vanak square, 19697, Tehran, Iran.

Background: Several registries and single centers have reported the results of their renal biopsies from different parts of the world. As there are only few data regarding the epidemiology of glomerulonephritides in Iran, this study was conducted to determine the results of renal biopsy findings during the last 10 years in our center.

Methods: Data from 1,436 patients who had undergone a renal biopsy in our center between 1998 and 2007 were collected retrospectively for the first 989 patients and prospectively for the rest of them, including demographic data, renal syndrome at presentation and laboratory findings. All kidney specimens were studied with light and immunofluorescent microscopies.

Results: Among 1,407 patients with a definite pathologic diagnosis, 1,052 (74.8%) had a primary glomerular disease, 241 (17.2%) had a secondary glomerular disease, 66 (4.6%) had tubular disease, 19 (1.3%) had vascular disease and 7 (0.5%) had end-stage kidney disease. The most frequent types of biopsy-proven renal diseases were membranous glomerulopathy (MG) (377 patients, 26.8%), IgA nephropathy (IgAN) (155 patients, 11%), lupus nephritis (155 patients, 11%), focal segmental glomerulosclerosis (141 patients, 10%) and minimal change disease (117 patients, 8.3%). The predominant presentation was nephrotic syndrome in almost all cases, with the exception of chronic glomerulonephritis, acute tubular necrosis and acute tubulointerstitial nephritis. The epidemiology of our renal biopsy findings was similar to reports from most European countries and United Arab Emirates, but different from many other neighboring countries, North America and Far East.

Conclusions: In our report of 1,407 renal biopsy specimens, MG and IgAN were the most frequent biopsy-proven renal diseases. FSGS was the third cause of primary glomerular disease, and lupus nephritis was the most common secondary glomerular disease. The unusually high frequency of presentation as nephrotic syndrome may be due to referral nature of our center and less liberal indications for renal biopsy.
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http://dx.doi.org/10.1007/s11255-009-9684-0DOI Listing
December 2010

Screening of the LIX1 gene in Japanese and Malaysian patients with SMA and/or SMA-like disorder.

Brain Dev 2010 May 6;32(5):385-9. Epub 2009 Aug 6.

Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia.

Background: The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene underlying cat SMA, limb expression 1 (LIX1), has been reported. Similarity in clinical and pathological features of cat and human SMA may give an insight into possible similarity of the genetic etiology.

Patients And Methods: In this study, we screened for a mutation in LIX1 using direct DNA sequencing in our SMA and/or SMA-like patients who retained SMN1. A total of 33 patients were enrolled in this study, of which 22 were Japanese and 11 were Malaysians. All these patients possessed at least two copies of SMN1.

Results: We did not identify any pathogenic mutations in the coding regions or splice sites of LIX1 in the patients. In addition, we described a polymorphism within LIX1 intron 3, c.387+107A>T. We found that A-allele is significantly more frequent in SMA patients compared to normal individuals.

Conclusion: Molecular genetic analysis of our SMA and/or SMA-like patients suggests that LIX1 is not associated with the development of their disorders. However, the number of patients analyzed in this study was very limited, and a larger study with bigger sample size is needed to confirm this result.
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http://dx.doi.org/10.1016/j.braindev.2009.06.008DOI Listing
May 2010

Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy.

Brain Dev 2009 Jan 7;31(1):42-5. Epub 2008 Oct 7.

Human Genome Center, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kota Bharu, Kelantan, Malaysia.

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene. The SMN2 gene is highly homologous to SMN1 and has been reported to be correlated with severity of the disease. The clinical presentation of SMA varies from severe to mild, with three clinical subtypes (type I, type II, and type III) that are assigned according to age of onset and severity of the disease. Here, we aim to investigate the potential association between the number of copies of SMN2 and the deletion in the NAIP gene with the clinical severity of SMA in patients of Malaysian origin. Forty-two SMA patients (14 of type I, 20 type II, and 8 type III) carrying deletions of the SMN1 gene were enrolled in this study. SMN2 copy number was determined by fluorescence-based quantitative polymerase chain reaction assay. Twenty-nine percent of type I patients carried one copy of SMN2, while the remaining 71% carried two copies. Among the type II and type III SMA patients, 29% of cases carried two copies of the gene, while 71% carried three or four copies of SMN2. Deletion analysis of NAIP showed that 50% of type I SMA patients had a homozygous deletion of exon 5 of this gene and that only 10% of type II SMA cases carried a homozygous deletion, while all type III patients carried intact copies of the NAIP gene. We conclude that there exists a close relationship between SMN2 copy number and SMA disease severity, suggesting that the determination of SMN2 copy number may be a good predictor of SMA disease type. Furthermore, NAIP gene deletion was found to be associated with SMA severity. In conclusion, combining the analysis of deletion of NAIP with the assessment of SMN2 copy number increases the value of this tool in predicting the severity of SMA.
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http://dx.doi.org/10.1016/j.braindev.2008.08.012DOI Listing
January 2009