@article { author = {Hejazi, Najmeh and Mazloom, zohreh and Zand, Farid and Rezaianzadeh, Abbas and Amini, Afshin}, title = {Nutritional Assessment in Critically Ill Patients}, journal = {Iranian Journal of Medical Sciences}, volume = {41}, number = {3}, pages = {171-179}, year = {2016}, publisher = {Shiraz University of Medical Sciences}, issn = {0253-0716}, eissn = {1735-3688}, doi = {10.30476/ijms.2016.40350}, abstract = {Background: Malnutrition is an important factor in the survival of critically ill patients. The purpose of the present study was to assess the nutritional status of patients in the intensive care unit (ICU) on the days of admission and discharge via a detailed nutritional assessment. Methods: Totally, 125 patients were followed up from admission to discharge at 8ICUs in Shiraz, Iran. The patients’ nutritional status was assessed using subjective global assessment (SGA), anthropometric measurements, biochemical indices, and body composition indicators. Diet prescription and intake was also evaluated.Results: Malnutrition prevalence significantly increased on the day of discharge (58.62%) compared to the day of admission (28.8%) according to SGA (p <0.001). The patients’ weight, mid-upper-arm circumference, mid-arm muscle circumference, triceps skinfold thickness, and calf circumference decreased significantly as well (p <0.001). Lean mass weight and body cell mass also decreased significantly (p <0.001). Biochemical indices showed no notable changes except for magnesium, which decreased significantly (P=0.013). A negative significant correlation was observed between malnutrition on discharge day and anthropometric measurements. Positive and significant correlations were observed between the number of days without enteral feeding, days delayed from ICU admission to the commencement of enteral feeding, and the length of ICU stay and malnutrition on discharge day. Energy and protein intakes were significantly less than the prescribed diet (26.26% and 26.48%, respectively).Conclusion: Malnutrition on discharge day increased in the patients in the ICU according to SGA. Anthropometric measurements were better predictors of the nutritional outcome of our critically ill patients than were biochemical tests.}, keywords = {Malnutrition,Critical illness,Intensive care unit,Anthropometry,Nutrition assessment}, url = {https://ijms.sums.ac.ir/article_40350.html}, eprint = {https://ijms.sums.ac.ir/article_40350_2e1adeb5a72ef561d6c5d5a1f5f6568f.pdf} } @article { author = {Nadi, Saba and Shabestani Monfared, Ali and Mozdarani, Hossein and Mahmodzade, Aziz and Pouramir, Mahdi}, title = {Effects of Arbutin on Radiation-Induced Micronuclei in Mice Bone Marrow Cells and It's Definite Dose Reduction Factor}, journal = {Iranian Journal of Medical Sciences}, volume = {41}, number = {3}, pages = {180-185}, year = {2016}, publisher = {Shiraz University of Medical Sciences}, issn = {0253-0716}, eissn = {1735-3688}, doi = {}, abstract = {Background: Interactions of free radicals from ionizing radiation with DNA can induce DNA damage and lead to mutagenesis and carsinogenesis. With respect to radiation damage to human, it is important to protect humans from side effects induced by ionizing radiation.In the present study, the effects of arbutin were investigated by using the micronucleus test for anti-clastogenic activity, to calculate the ratio of polychromatic erythrocyte to polychromatic erythrocyte plus normochromatic erythrocyte (PCE/PCE+NCE) in order to show cell proliferation activity.Methods: Arbutin (50, 100, and 200 mg/kg) was intraperitoneally (ip) administered to NMRI mice two hours before gamma radiation at 2 and 4 gray (Gy). The frequency of micronuclei in 1000 PCEs (MnPCEs) and the ratio of PCE/PCE+NCE were calculated for each sample. Data were statistically evaluated using one-way ANOVA, Tukey HSD test, and t-test.Results: The findings indicated that gamma radiation at 2 and 4 Gy extremely increased the frequencies of MnPCE (P<0.001) while reducing PCE/PCE+NCE (P<0.001) compared to the control group. All three doses of arbutin before irradiation significantly reduced the frequencies of MnPCEs and increased the ratio of PCE/PCE+NCE in mice bone marrow compared to the non-drug-treated irradiated control (P<0.001). All three doses of arbutin had no toxicity effect on bone marrow cells. The calculated dose reduction factor (DRF) showed DRF=1.93 for 2Gy and DRF=2.22 for 4 Gy.Conclusion: Our results demonstrated that arbutin gives significant protection to rat bone against the clastogenic and cytotoxic effects of gamma irradiation.}, keywords = {Gamma rays,Micronucleus tests,Erythrocytes,Bone marrow cell,Arbutin,Radiation protective agents}, url = {https://ijms.sums.ac.ir/article_40353.html}, eprint = {https://ijms.sums.ac.ir/article_40353_39056d98c28390d06d1433068bb01f56.pdf} } @article { author = {Hashemi, Seyed Basir and Monshizadeh, Leila}, title = {Comparison of Auditory Perception in Cochlear Implanted Children with and without Additional Disabilities}, journal = {Iranian Journal of Medical Sciences}, volume = {41}, number = {3}, pages = {186-190}, year = {2016}, publisher = {Shiraz University of Medical Sciences}, issn = {0253-0716}, eissn = {1735-3688}, doi = {}, abstract = {Background: The number of children with cochlear implants who have other difficulties such as attention deficiency and cerebral palsy has increased dramatically. Despite the need for information on the results of cochlear implantation in this group, the available literature is extremely limited. We, therefore, sought to compare the levels of auditory perception in children with cochlear implants with and without additional disabilities.Methods: A spondee test comprising 20 two-syllable words was performed. The data analysis was done using SPSS, version 19.Results: Thirty-one children who had received cochlear implants 2 years previously and were at an average age of7.5 years were compared via the spondee test. From the 31 children,15 had one or more additional disabilities. The data analysis indicated that the mean score of auditory perception in this group was approximately 30 scores below that of the children with cochlear implants who had no additional disabilities.Conclusion: Although there was an improvement in the auditory perception of all the children with cochlear implants, there was a noticeable difference in the level of auditory perception between those with and without additional disabilities. Deafness and additional disabilities depended the children on lip reading alongside the auditory ways of communication. In addition, the level of auditory perception in the children with cochlear implants who had more than one additional disability was significantly less than that of the other children with cochlear implants who had one additional disability.}, keywords = {Cochlear implant,Auditory perception,Disabilities,Child}, url = {https://ijms.sums.ac.ir/article_40356.html}, eprint = {https://ijms.sums.ac.ir/article_40356_f27a63ff9b9255fd6b1ce60473a24374.pdf} } @article { author = {Namazi, Soha and Sagheb, Mohammad Mahdi and Hashempour, Mohammad Mahdi and Sadatsharifi, Arman}, title = {Usage Pattern and Serum Level Measurement of Amikacin in the Internal Medicine Ward of the Largest Referral Hospital in the South of Iran: A Pharmacoepidemiological Study}, journal = {Iranian Journal of Medical Sciences}, volume = {41}, number = {3}, pages = {191-199}, year = {2016}, publisher = {Shiraz University of Medical Sciences}, issn = {0253-0716}, eissn = {1735-3688}, doi = {}, abstract = {Background: The inappropriate use of aminoglycosides has harmful effects such as the development of resistant pathogens and the incidence of nephrotoxicity and ototoxicity. Therefore, drug utilization evaluation of these drugs may improve their usage remarkably. The aim of this study was to assess the usage pattern of amikacin in an internal medicine ward.Methods: This cross-sectional study was conducted in the Internal Medicine Ward of Nemazee Teaching Hospital, Shiraz, Iran, in 2011. The guideline for amikacin use was approved by the institutional Pharmacy and Therapeutics Committee, and the study criteria were developed to assess several parameters involved in amikacin therapy such as appropriateness of drug use, dosage, duration of therapy, toxicity monitoring, and serum concentration assay. Serum concentration was assayed using a Cobas Mira AutoAnalyzer. Clinical and paraclinical parameters such as glomerular filtration rate, culture, microbial sensitivity, white blood cell count, and fever were collected.Results: Sixty-three patients were evaluated. Fifty-seven percent of the patients needed dose readjustment; however, it was not performed for 89% of them. Culture between48 and 72 hours after amikacin administration was not controlled for 79% of the patients. In 19% of the patients, optimum therapeutic effect was not achieved. The mean±SD of the trough and peak concentrations was 7.63±5.4 μg/mL and 15.67±7.79 μg/mL, respectively. Forty-five percent of the trough and 38% of the peak levels were within the therapeutic range. The overall adherence of amikacin usage to the guideline was only 48%.Conclusion: To achieve appropriate treatment and prevent toxic effects, we recommend that pharmacokinetic dosing methods, amikacin guideline, and serum monitoring be considered.}, keywords = {Guideline,Amikacin,Drug utilization review}, url = {https://ijms.sums.ac.ir/article_40359.html}, eprint = {https://ijms.sums.ac.ir/article_40359_ba6642964d485d3de82117d6a6435b7b.pdf} } @article { author = {Showraki, Alireza and Emamghoreishi, Masoumeh and Oftadegan, Somayeh}, title = {Anticonvulsant Effect of the Aqueous Extract and Essential Oil of Carum Carvi L Seeds in a Pentylenetetrazol Model of Seizure in Mice}, journal = {Iranian Journal of Medical Sciences}, volume = {41}, number = {3}, pages = {200-208}, year = {2016}, publisher = {Shiraz University of Medical Sciences}, issn = {0253-0716}, eissn = {1735-3688}, doi = {}, abstract = {Background: Carum carvi L. (caraway), known as black zeera in Iran, has been indicated for the treatment of epilepsy in Iranian folk medicine. This study evaluated whether the aqueous extract and essential oil of caraway seeds have anticonvulsant effects in mice.Methods: The anticonvulsant effects of the aqueous extract (200, 400, 800, 1600, and 3200 mg/kg, i.p.) and essential oil (25, 50, 100, 200, and 400 mg/kg, i.p.) of caraway were assessed using pentylenetetrazol (PTZ; 95 mg/kg i.p.) induced convulsions. Diazepam (3 mg/kg) was used as positive control. The latency time before the onset of myoclonic, clonic, and tonic convulsions and the percentage of mortality were recorded. In addition, the effect of caraway on neuromuscular coordination was evaluated using the rotarod performance test.Results: The extract and essential oil dose-dependently increased the latency time to the onset of myoclonic (ED50, 1257 and 62.2 mg/kg, respectively) and clonic (ED50, 929 and 42.3 mg/kg, respectively) seizures. The extract and essential oil of caraway prevented the animals from tonic seizure with ED50s of 2142.4 and 97.6 mg/kg, respectively. The extract and essential oil of caraway protected 28.6 and 71.4% of the animals from PTZ-induced death, respectively, and had no significant effect on neuromuscular coordination.Conclusion: This study showed that the aqueous extract and essential oil of caraway had anticonvulsant properties. However, the essential oil was more potent and effective than was the aqueous extract as an anticonvulsant. Additionally, the anticonvulsant effect of caraway was not due to a muscle relaxant activity. These findings support the acclaimed antiepileptic effect of caraway in folk medicine and propose its potential use in petit mal seizure in humans.}, keywords = {Carum,Anticonvulsants,Pentylenetetrazole,Seizures,mice}, url = {https://ijms.sums.ac.ir/article_40361.html}, eprint = {https://ijms.sums.ac.ir/article_40361_be7ed07a04465ffc989b9baedabd30f3.pdf} } @article { author = {Sarkari, Bahador and Bavarsad Ahmadpour, Niloofar and Motazedian, Mohammad Hossein and Mirjalali, Hamed and Akhoundi, Mohammad and Mohebali, Mehdi and Hajjaran, Homa}, title = {Inter- and Intraspecific Variations of Leishmania Strains Isolated from Patients with Cutaneous and Visceral Leishmaniases in Fars Province, South of Iran}, journal = {Iranian Journal of Medical Sciences}, volume = {41}, number = {3}, pages = {209-216}, year = {2016}, publisher = {Shiraz University of Medical Sciences}, issn = {0253-0716}, eissn = {1735-3688}, doi = {}, abstract = {Background: Cutaneous and visceral leishmaniases are present in Fars Province in the south of Iran. The current study aimed to evaluate the inter- and intragenic diversities of Leishmania species isolated from patients with leishmaniasis in Fars Province, using PCR-based analyses and DNA sequencing of  the N-acetylglucosamine-1-phosphate transferase (nagt) gene.Methods: Clinical samples were taken from the skin lesions of 120 individuals with clinical suspicion of cutaneous leishmaniasis (CL) referred to the major health centers of Shiraz. Along with microscopic examination, a part of each sample was used for in vitro cultivation. DNA was extracted from the cultured parasites and the nagt gene was PCR-amplified. For RFLP analysis, the PCR product of the nagt gene was digested with the Acc1 restriction enzyme. Moreover, the PCR products of 23 isolates were sequenced and analyzed, using MEGA5.Results: From the 120 patients with clinical suspicion of CL, 110 (91.7%) cases were found to be positive by direct microscopy while 77 (64.1%) of the cultures were positive. Digestion of the PCR product with the Acc1 restriction enzyme detected L. major in 57 out of the 77 (74.1%) and L. tropica, in 20 out of the 77 (25.9%) cases with CL. Phylogenetic analysis grouped the Leishmania isolates into 3 main clades, representing L. major, L. infantum, and L. tropica, encompassing 2, 2, and 2 haplotypes, respectively. Within the clades, the L. tropica intraspecies divergence was more pronounced in L. major.Conclusion: The findings of this study demonstrated that the causative agent of CL in Fars Province was mainly L. major and that there was considerable heterogeneity between the Leishmania species and also within the L. major isolates.}, keywords = {Leishmaniasis,Cutaneous,Visceral,Genetic variation,Nagt gene,Iran}, url = {https://ijms.sums.ac.ir/article_40362.html}, eprint = {https://ijms.sums.ac.ir/article_40362_9d1aa8fbd9242c54ee769130613eae9b.pdf} } @article { author = {Reihani Kermani, Hamed and Nakhaee, Nouzar and Fatahian, Reza and Gholamhosseinian Najar, Ahmad}, title = {Effect of Aspirin on Spinal Cord Injury: An Experimental Study}, journal = {Iranian Journal of Medical Sciences}, volume = {41}, number = {3}, pages = {217-222}, year = {2016}, publisher = {Shiraz University of Medical Sciences}, issn = {0253-0716}, eissn = {1735-3688}, doi = {}, abstract = {Aspirin is an anti-inflammatory drug, peroxyl radical scavenger, and antioxidant agent that inhibits phospholipases, nitric oxide synthetases, and cyclooxygenase enzymes. The existing literature contains no studies on the effects of various doses of aspirin on spinal cord injury (SCI). Therefore, we sought to investigate the putative effects of aspirin on experimental SCI.The weight-drop injury model was used to produce SCI in 100 albino Wistar rats. The animals were allocated to five groups: a control group, where the rats did not undergo any surgical or medical intervention except for anesthesia; a sham-treated group, where laminectomy was performed without SCI and no further therapy was administered; and three other groups, where the rats with SCI received low-dose aspirin [20 mg/kg], high-dose aspirin [80 mg/kg], and a vehicle, respectively. Half of the rats were sacrificed 24 hours later, and their spinal cords were excised for biochemical studies. The other rats were subjected to Basso, Beattie, and Bresnahan (BBB) locomotor rating scale scoring once a week for 6 consecutive weeks.Aspirin decreased lipid peroxidation following SCI as the mean (± standard error) catalase level was significantly higher in the high-dose aspirin group (46.10±12.01) than in the sham-treated group (16.07±2.42) and the vehicle-treated group (15.31±3.20) (P<0.05; P<0.05, respectively). Both of the groups treated with high-dose and low-dose aspirin demonstrated a higher mean BBB score than did the control group (P<0.001) and the sham-treated group (P<0.001).Our data provide evidence in support of the potential effects of aspirin in biochemical and neurobehavioral recovery after SCI}, keywords = {Aspirin,Antioxidant,Spinal cord injury}, url = {https://ijms.sums.ac.ir/article_40351.html}, eprint = {https://ijms.sums.ac.ir/article_40351_0dd6dbce62d97c31bacdfb267e8e6ae3.pdf} } @article { author = {Farzaneh, Mohamad and Shahryari, Jahanbanoo and Safaei, Akbar and Valibeigi, Behnaz and Karimi Davani, Shahrbanou and Tabibi, Narjes}, title = {Dicer Gene Expression as a Prognostic Factor in Acute Lymphoblastic Leukemia and Chronic Lymphocytic Leukemia in Fars Province}, journal = {Iranian Journal of Medical Sciences}, volume = {41}, number = {3}, pages = {223-229}, year = {2016}, publisher = {Shiraz University of Medical Sciences}, issn = {0253-0716}, eissn = {1735-3688}, doi = {}, abstract = {Alterations in the expression of microRNAs (miRNAs) have been proposed to play a role in the pathogenesis of acute lymphoblastic leukemia (ALL) and chronic lymphocytic leukemia (CLL). Dicer is one of the main regulators of miRNA biogenesis, and deregulation of its expression has been indicated as a possible cause of miRNA alterations observed in various cancers. Our aim was to analyze the expression of the Dicer protein and its relationship with ALL and CLL. This cross-sectional study was performed from 2010 to 2012 in Shahid Faghihi Hospital, Shiraz, Iran. In this study, 30 patients with CLL, 21 patients with ALL, 10 child healthy donors, and 19 adult healthy donors were recruited. The patients’ samples were checked via flow cytometry, immunohistochemistry, and immunocytochemistry. The controls’ samples were also examined in the hematology ward. Total RNA was extracted from the bone marrow and peripheral blood samples of the patients and controls. Then, reverse-transcription polymerase chain reaction was used to estimate the level of Dicer miRNA. The outcomes of the expression analysis of Dicer revealed statistically significant differences between the ALL patients/child healthy controls (mean±SD, 0.19±0.28 vs. 0.73±0.12; P<0.001) and the CLL patients/adult healthy controls (mean±SD, 0.24±0.25 vs. 0.41±0.28; P=0.033). This is the first piece of evidence showing that the expression of the Dicer gene greatly decreased in the patients with ALL in comparison to the child controls. The expression of the Dicer gene was also downregulated in the patients with CLL  compared to the adult controls. Given the above findings, the expression of Dicer may play an important role in the progression and prognosis of these diseases.}, keywords = {DICER1 protein,Gene expression,Leukemia}, url = {https://ijms.sums.ac.ir/article_40354.html}, eprint = {https://ijms.sums.ac.ir/article_40354_b0d62a56eec39da3743df55438177004.pdf} } @article { author = {Keshtgar, Sara and Iravanpour, Farideh and Gharesi-Fard, Behrooz and Kazerooni, Marjaneh}, title = {Combined Effect of Trolox and EDTA on Frozen-Thawed Sperm Quality}, journal = {Iranian Journal of Medical Sciences}, volume = {41}, number = {3}, pages = {230-237}, year = {2016}, publisher = {Shiraz University of Medical Sciences}, issn = {0253-0716}, eissn = {1735-3688}, doi = {}, abstract = {The freezing and thawing process not only is associated with serious damage to sperm such as damage to the plasma membrane and the acrosomal membrane but also changes the membrane permeability to some ions including calcium. Also, the generation of oxygen free radicals is increased during the freezing-thawing process. The purpose of this study was to evaluate of the effects of Trolox as an antioxidant and edetic acid (EDTA) as a calcium chelator on frozen-thawed (FT) sperm and compare these effects with those on fresh sperm. This study was done on these men of 25 healthy men, who referred to Shiraz Infertility Centerbetween2012 and2013. Normal samples were transferred to the ReproductivePhysiology Laboratory, Department of Physiology,Shiraz University of Medical Sciences, Shiraz. The samples were divided into two groups randomly: fresh and FT sperm groups. Each group was divided into five subgroups:control group, the solvent group (0.1%dimethyl sulfoxide [DMSO]), Trolox group (200μM), EDTA group (1.1mM), and Trolox+EDTA group. The percentages of motility, viability, and acrosome-reacted sperm were tested. The percentages of motility and viability in the FT sperm were lower than those in the fresh sperm. The progressive motility of the FT sperm was improved nonsignificantly with Trolox+EDTA. However, the effect of Trolox+EDTA on the progressive motility of the FT sperm was much more than that on the fresh sperm. The fewest acrosome-reacted sperm were observed in the EDTA-containingFT sperm. Antioxidant supplementation or omission of extracellular calcium may partly improve motility and also reduce acrosomal damage in FT sperm.}, keywords = {Freezing,6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid,Edetic Acid,Sperm Motility,Acrosome reaction}, url = {https://ijms.sums.ac.ir/article_40357.html}, eprint = {https://ijms.sums.ac.ir/article_40357_7484c173d5270c43395d6939d674b5d8.pdf} } @article { author = {Gopivallabh, Madhusudhan and Jaganmaya, Kajekar and Hanumanthaiah, Kunthurdoddi and Babannavar, Prashantha and Crithic, Vilas}, title = {Ileoileal Knot as a Content of Obstructed Hernia: What Are the Odds?}, journal = {Iranian Journal of Medical Sciences}, volume = {41}, number = {3}, pages = {238-240}, year = {2016}, publisher = {Shiraz University of Medical Sciences}, issn = {0253-0716}, eissn = {1735-3688}, doi = {}, abstract = {An obstructed inguinal hernia is a common surgical emergency, which presents with a variety of contents like the small intestine, omentum, and colon. Intestinal knotting is a rare entity encountered in surgical practice; it occurs when one coil of intestine wraps around the other and eventually leads to complications such as intestinal obstruction, ischemia, and gangrene. Both conditions are considered surgical emergencies and should be dealt with through appropriate surgical measures forthwith. We report the case of an obstructed inguinal hernia, which, on exploration, showed an ileoileal knot as its content. Ileoileal knotting is a very rare phenomenon and, to the best of our knowledge, such an ileoileal knot as a content of obstructed inguinal hernia has not been reported in the surgical literature so far.}, keywords = {Intestinal obstruction,Hernia,Inguinal,India}, url = {https://ijms.sums.ac.ir/article_40352.html}, eprint = {https://ijms.sums.ac.ir/article_40352_18c997a503db68399010c52fb82e8e5f.pdf} } @article { author = {Babaei-Ghazani, Arash and Eftekharsadat, Bina}, title = {Familial Amyloid Polyneuropathy Type IV (FINNISH) with Rapid Clinical Progression in an Iranian Woman: A Case Report}, journal = {Iranian Journal of Medical Sciences}, volume = {41}, number = {3}, pages = {241-244}, year = {2016}, publisher = {Shiraz University of Medical Sciences}, issn = {0253-0716}, eissn = {1735-3688}, doi = {}, abstract = {Familial amyloid polyneuropathy (FAP) type IV (FINNISH) is a rare clinical entity with challenging neuropathy and cosmetic deficits. Amyloidosis can affect peripheral sensory, motor, or autonomic nerves. Nerve lesions are induced by deposits of amyloid fibrils and treatment approaches for neuropathy are challenging. Involvement of cranial nerves and atrophy in facial muscles is a real concern in daily life of such patients. Currently, diagnosis of neuropathy can be made by electrodiagnostic studies and diagnosis of amyloidosis can be made by genetic testing or by detection of amyloid deposition in abdominal fat pad, rectal, or nerve biopsies. It is preferable to consider FAP as one of the differential diagnosis of a case presented with multiple cranial nerves symptoms. The authors present a case of familial amyloid polyneuropathy (FAP) type IV with severe involvement of multiple cranial nerves, peripheral limb neuropathy, and orthostatic hypotension.}, keywords = {Amyloid neuropathies,Familial,Cranial nerve diseases,Hypotension,Orthostatic}, url = {https://ijms.sums.ac.ir/article_40355.html}, eprint = {https://ijms.sums.ac.ir/article_40355_df685aaf47700053ee19f886dde3b61a.pdf} } @article { author = {Khademi, Gholam and Aelami, Mohammad}, title = {Acute Hemorrhagic Leukoencephalitis in Children: A Case Report}, journal = {Iranian Journal of Medical Sciences}, volume = {41}, number = {3}, pages = {245-248}, year = {2016}, publisher = {Shiraz University of Medical Sciences}, issn = {0253-0716}, eissn = {1735-3688}, doi = {}, abstract = {Acute hemorrhagic leukoencephalitis (AHLE) is a rare demyelinating disease characterized by an acute rapidly progressive fulminant inflammation of the white matter. In this case report, we introduce a case of AHLE in children with an interesting and lengthy process and successful treatment.A previously healthy 13-year-old girl was admitted to the hospital because of fever and loss of consciousness. After 4 days, she was referred to our pediatric intensive care unit in Mashhad, Iran. On admission, she had right-sided parotiditis. With a diagnosis of AHLE, our patient was treated with methylprednisolone, intravenous immunoglobulin, acyclovir, and plasmapheresis.AHLE is a rare and severe demyelinating disease, the mortality and morbidity of which can be decreased by early detection and treatment with steroid therapy, intravenous immunoglobulin, acyclovir, and plasmapheresis.}, keywords = {Leukoencephalitis,Acute hemorrhagic encephalomyelitis,Acute disseminated,Demyelinating diseases}, url = {https://ijms.sums.ac.ir/article_40358.html}, eprint = {https://ijms.sums.ac.ir/article_40358_2d1015aa57603e1576030f18bfd96f94.pdf} } @article { author = {Miryounesi, Mohammad and Dianatpour, Mehdi and Shadmani, Zahra and Ghafouri-Fard, Soudeh}, title = {Report of a Case with Trisomy 9 Mosaicism}, journal = {Iranian Journal of Medical Sciences}, volume = {41}, number = {3}, pages = {249-252}, year = {2016}, publisher = {Shiraz University of Medical Sciences}, issn = {0253-0716}, eissn = {1735-3688}, doi = {}, abstract = {Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Patients with mosaicism survive longer than non-mosaics, but it was believed that the degree of mosaicism in lymphocytes or fibroblasts does not associate with survival or degree of impairment. In this report, we present a 2.5-year-old male case of mosaic trisomy 9, to show the wide range of clinical findings in this chromosome disorder. The patient had cardiac anomalies, inguinal hernia, and undescendent testes. He had low-set slightly malformed ears, deeply-set malformed eyes, small palpebral fissures, micrognathia, developmental delay and unilateral optic hypoplasia. The most prominent facial anomaly in this patient was eye anomalies. Cytogenetic analysis with G banding showed karyotype 47XY,+9 in 44% of peripheral lymphocytes examined (47XY,+9[22], 46XY[28]). His parents’ karyotypes were normal. Moderate developmental delay, which was detected in this patient shows that the range of motor and cognitive impairment in this chromosomal disorder is quite broad. This fact should be considered in genetic counseling as well as prenatal diagnosis of this chromosomal disorder.}, keywords = {Mosaicism,Chromosome 9,trisomy,Cytogenetic analysis}, url = {https://ijms.sums.ac.ir/article_40360.html}, eprint = {https://ijms.sums.ac.ir/article_40360_23ca6ca086c8b2c3b2bb98f3e14919db.pdf} }