PubMed | Harvard University, Hematology Oncology and Stem Cell Transplantation Research Center, Digestive Disease Research Institute, Tehran University of Medical Sciences and 5 more.
Type: Journal Article | Journal: Allergologia et immunopathologia | Year: 2016
The aim was to describe the clinical manifestations, complications and long-term outcome of a cohort of Iranian patients with primary immune deficiency (PID).We retrospectively studied the demographic, clinical and immunological characteristics of the PID patients in a single tertiary centre, from January 1989 to July 2014. The patients were classified according to the International Union of Immunological Societies Expert Committee on PID.98 patients were diagnosed with and followed-up for 15 disorders. The mean age at onset and diagnosis and the diagnostic delay were 810, 14.213.1 and 6.17 years, respectively. Parental consanguinity rate was 57%. Predominantly Antibody Deficiency was the most common diagnosis (n=63), followed by congenital defects of phagocytes (n=16), combined immunodeficiencies (n=12), well defined syndromes (n=4) and defects in innate immunity (n=3). Recurrent sinopulmonary infection was the most common presentation. Active infections were treated appropriately, in addition to prophylactic therapy with IVIG and antimicrobials. Not all the patients were compliant with prophylactic regimens due to cost and unavailability. One SCID patient underwent successful bone marrow transplantation. The total mortality rate was 19% during the follow-up period (7.87.6 years). The mean age of living patients at the time of study was 2311.7 years.Physicians awareness of PID has been rising dramatically in Iran, ensuring an increasing number of patients being diagnosed and treated. More effective treatment services, including health insurance coverage and drug availability are needed to improve the outcome of PID patients.
Dalirani R.,Shahid Beheshti University of Medical Sciences |
Dalirani R.,Mofid Childrens Hospital |
Mahyar A.,Qazvin University of Medical Sciences |
Sharifian M.,Shahid Beheshti University of Medical Sciences |
And 3 more authors.
Pediatric Nephrology | Year: 2014
Background: Vesicoureteral reflux (VUR) is one of the most important risk factors for urinary tract infection (UTI). Diagnosis and treatment of VUR is important to prevent irreversible complications, such as renal scarring and chronic renal failure. This study was conducted to assess the value of direct radionuclide cystography (DRNC) in the detection of VUR in children with UTI and a normal voiding cystourethrography (VCUG).Methods: DRNC was performed in 35 children with a normal VCUG after an episode of febrile UTI who had hydronephrosis or hydroureter, abnormal acute dimercaptosuccinic acid (DMSA) scan results and/or febrile UTI recurrence. This study was conducted in the nephrology department of Mofid Children’s Hospital, Tehran (Iran).Conclusions: Based on our results, we suggest that DRNC may reveal VUR despite a normal VCUG in children with hydronephrosis, abnormal acute DMSA, and/or recurrent febrile UTI.Results: The results were statistically analyzed. Among the 70 ureters studied, 33 (49.1 %) were observed to have VUR. Of these, 17 (51.5 %) had mild, 14 (42.4 %) moderate, and 2 (6.1 %) severe reflux. A significant relationship was observed between DRNC results and DMSA renal scan findings (P < 0.05). © 2014, IPNA.
Ghotbi F.,Taleghani Hospital |
Sene A.A.,Tehran University of Medical Sciences |
Azargashb E.,Mofid Childrens Hospital |
Shiva F.,Mofid Childrens Hospital |
And 4 more authors.
Journal of Obstetrics and Gynaecology Research | Year: 2014
Aim: The rate of cesarean section (CS) has been reported to be as high as 40% among Iranian women in the year 2009. The aim of this study was to determine the rate of cesarean delivery on mother's request (CDMR) and to determine maternal attitude and knowledge about various modes of delivery in private and public (university) hospitals in Tehran. Material and Methods: All primiparous mothers delivering in six selected hospitals between April 2010 and March 2011 were included. Trained investigators handed a predesigned questionnaire to mothers 1 day after delivery to be filled out in the presence of the investigator. Results: From 600 deliveries, 501 (83.5%) were CS and 99 (16.5%) were normal vaginal delivery. The CS rates in university hospitals versus private hospitals were 78.5% and 91.9%, respectively. In total, mothers' knowledge scores were poor, intermediate, and good in 55.6%, 37.9%, and 6.5% of cases, respectively, and no significant difference in knowledge was observed between mothers attending private or public hospitals. The overall rate of CDMR was 20.8%; and the most frequent reason was fear of pain. Women with CDMR were at higher marital age, education, insurance coverage, and socioeconomic status compared with the women with vaginal delivery. Conclusion: Prompt action is needed to reduce the unacceptably high rate of unwarranted cesarean deliveries. Improving women's knowledge about the risks and benefits of different modes of delivery can lead to a positive maternal attitude towards vaginal delivery. © 2014 Japan Society of Obstetrics and Gynecology.
Alaei M.R.,Shahid Beheshti University of Medical Sciences |
Alaei M.R.,Mofid Childrens Hospital |
Mirjavadi S.A.,Shahid Beheshti University of Medical Sciences |
Shiari R.,Shahid Beheshti University of Medical Sciences
Iranian Journal of Child Neurology | Year: 2010
Rabson-Mendenhall syndrome is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia, postprandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. Herein, we described a 10- year-old girl with physical features of the Rabson-Mendenhall syndrome that was presented with polyuria. To our knowledge, this is the first report of the Rabson-Mendenhall syndrome from Iran.
PubMed | High Institute for Research and Education in Transfusion, Mahdieh Hospital, Mofid Childrens Hospital and Shahid Beheshti University of Medical Sciences
Type: Journal Article | Journal: Iranian journal of pediatrics | Year: 2015
Incidence of jaundice is high in newborn infants. Since well appearing newborns are rapidly and routinely discharged from hospital, performing an inexpensive noninvasive pre-discharge screening test for evaluation of jaundice seems to be necessary.This study was conducted to compare the accuracy of cutaneous v/s serum bilirubin measurements in this regard.This was a prospective cross sectional study conducted in Mahdieh hospital, Tehran. 613 neonates weighing 1,800 g with gestational age of 35 weeks were enrolled. A pre discharge transcutaneous bilirubin test (TcB) was performed in all. Serum samples were taken from neonates with TcB 5 mg/dL in first and > 8 mg/dL in second 24 hours. Decision for treatment or recheck of bilirubin level after discharge was made based on serum bilirubin results.Based on the study protocol, among 613 studied neonates, 491 (80%) revealed high TcB, of them 240 (49%) cases showed TBC 5 mg/dL in first and 251 (51 %) in second pre-discharge 24 hours. TcB ranged 3.3 - 17.1, mean TcB in first 24 hours was 6.9 1 .7 (mode 6) and in second 24 hours 9.1 2.1 (mode 10). Of 491 neonates with high TcB, capillary serum sample was taken as the second step and 398 neonates revealed high total serum bilirubin (TsB) with the same protocol for TcB. 108 (27.1%) neonates showed TsB 5 mg/dL in first and 290 (72.9%) in second 24 hours. According to the study results TcB has a 81% positive predictive value (PPV) in diagnosis of hyperbilirubinemia. Correlation coefficient of TcB and TsB in highest rate is equal to 72% (P value < 0.001).TcB is an inexpensive, noninvasive and precise pre-discharge screening test for evaluation of hyperbilirubinemia, with a high PPV. It is highly recommended to be performed routinely due to high incidence of hyperbilirubinemia in neonates.
Fakhraee S.H.,Mofid Childrens Hospital |
Nariman S.,Mofid Childrens Hospital |
Taghipour R.,Mofid Childrens Hospital
Archives of Iranian Medicine | Year: 2011
Congenital absence of the nose or arhinia is a rare defect of embryogenesis often associated with other anomalies. Arhinia is a lifethreatening condition that requires a highly skilled neonatal resuscitation team in the delivery room. The associated anomalies often have a significant effect on the immediate as well as long-term outcome of the neonate. This report presents a case of congenital arhinia and reviews the management of such cases.
Ghanaie R.M.,Mofid Childrens Hospital |
Karimi A.,Mofid Childrens Hospital |
Sadeghi H.,Mofid Childrens Hospital |
Esteghamti A.,Mofid Childrens Hospital |
And 6 more authors.
International Journal of Infectious Diseases | Year: 2010
Objectives: Bordetella pertussis continues to circulate even in countries with good childhood vaccination coverage. This study was undertaken to define the relationship between documented disease and the clinical criteria proposed by the World Health Organization (WHO). Methods: Nasopharyngeal swab samples were collected from previously healthy 6-14-year-old school children in Tehran, presenting with persistent cough of at least 2- week duration. Specimens were examined for Bordetella pertussis and Bordetella parapertussis by culture and polymerase chain reaction (PCR). Results: Out of 6601 students, 328 (5.0%) had been coughing for at least 2 weeks. Of these children with cough, 182 (55.5%) experienced whooping, 194 (59.1%) suffered a paroxysmal cough, and 73 (22.3%) had post-tussive vomiting. Twenty-one (6.4%) samples tested positive for B. pertussis and six (1.8%) for B. parapertussis by PCR. Culture of four (1.2%) specimens was positive for B. pertussis. In comparison to PCR, the sensitivity and the specificity of the WHO clinical criteria (year 2000) were 95.2% and 15.0%, respectively. Conclusions: Pertussis remains one of the etiologies of prolonged cough, even in communities with high immunization in children. The specificity of the WHO criteria is low in diagnosing pertussis compared with PCR. © 2010 International Society for Infectious Diseases.
Alavi S.,Shahid Beheshti University |
Khoddami M.,Mofid childrens hospital |
Yazdi M.K.,Mofid childrens hospital |
Dehghanian P.,Mofid childrens hospital |
Esteghamati S.,Mofid childrens hospital
ecancermedicalscience | Year: 2013
Clear cell sarcoma of the kidney (CCSK) is a rare renal neoplasm of paediatrics, making up about 3% of all renal tumours in paediatrics, with a high tendency for developing bone metastasis. A seven year-old boy was referred to our clinic with two firm, large masses over the manubrium of the sternum and right frontal area, which pathologically were confirmed as a metastatic CCSK. The patient had a history of a renal mass three years earlier, for which radical nephrectomy had been performed, and histopathologic diagnosis was compatible with mesoblastic nephroma. Thus, no further investigation and therapy had been applied for the patient. CCSK is a rare but malignant and aggressive paediatric renal tumour, with a high tendency for developing distant bone metastases, leading to its poor prognosis. CCSK could be misdiagnosed as several other renal tumours such as mesoblastic nephroma, and thus CCSK should be taken carefully into consideration in the diagnosis of renal tumours. © the authors; licensee ecancermedicalscience.
Shiari R.,Mofid Childrens Hospital |
Farivar S.,Shahid Beheshti University
Reumatologia Clinica | Year: 2010
We present the first reported case of juvenile Systemic Lupus Erythematosus with Klinefelter's syndrome in a 14-year-old Iranian boy who had leg ulcers and arthritis. He had low level of testosterone accompanied with hypergonadotropic hypogonadism. This case emphasizes the importance of two X chromosomes as a risk factor for Systemic Lupus Erythematosus in women and men with Klinefelter's syndrome (47, XXY). © 2009 Elsevier España, S.L. All rights reserved.
PubMed | Royan Institute for Stem Cell Biology and Technology, Tehran University of Medical Sciences, Kawsar Human Genetics Research Center, Pasteur Institute of Iran and 2 more.
Type: Journal Article | Journal: Metabolic brain disease | Year: 2016
Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive disorder of branched-chain amino acid (BCAA) metabolism. The disease is mainly caused by mutations either in the BCKDHA, BCKDHB, DBT or DLD genes encoding components of the E1, E1, E2 and E3 subunits of branched-chain -keto acid dehydrogenase complex (BCKDC), respectively. BCKDC is a mitochondrial enzyme which is responsible for the normal breakdown of BCAA. The rate of consanguineous marriage in Iran is 38.6%, so the prevalence of autosomal recessive disorders is higher in comparison to other countries. Consanguinity increases the chance of the presence of pathogenic mutations in a homoallelic state. This phenomenon has made homozygosity mapping a powerful tool for finding the probable causative gene in heterogeneous disorders like IEM (Inborn Errors of Metabolism). In this study, two sets of multiplex polymorphic STR (Short Tandem Repeat) markers linked to the above-mentioned genes were selected to identify the probable pathogenic gene in the studied families. The families who showed a homozygous haplotype for the STR markers of the BCKDHB gene were subsequently sequenced. Four novel mutations including c.633+1G>A, c.988G>A, c.833_834insCAC, and a homozygous deletion of whole exon 3 c. (274+1_275-1) _(343+1_344-1), as well as one recently reported (c. 508G>T) mutation have been identified. Interestingly, three families shared a common haplotype structure along with the c. 508G>T mutation. Also, four other families revealed another similar haplotype with c.988G>A mutation. Founder effect can be a suggestive mechanism for the disease. Additionally, structural models of MSUD mutations have been performed to predict the pathogenesis of the newly identified variants.