The first national pediatric immune thrombocytopenia registry in Iran: research protocol and preliminary study results.

BACKGROUND: Disease registries are comprehensive databases that record detailed information on patients diagnosed with specific conditions, providing valuable insights into their diagnosis, treatment, and outcomes. This study aims to describe the pilot phase of the national pediatric Immune Thrombocytopenia(ITP) registry (NPITP) in Iran, serving as the inaugural interpretive report. METHODS: This patient-centered software system was implemented as a national program across multiple pediatric centers in Iran. Several focus groups were conducted to establish a minimum data set (MDS) comprising six main classes, 14 sub-classes, and 187 data elements. Following expert consensus on the final data set, a web-based software tool was developed by the dedicated IT team, accessible online and offline via https://disreg.sbmu.ac.ir/q/ITP.html . The registry included children aged between two months and 18 years with a platelet count below 100 × 109/L, based on predefined inclusion criteria. RESULTS: Within a four-month period, a total of 60 ITP patients were registered, including 41 (68.3%) newly diagnosed cases, 68 (13.6%) persistent cases, and 14 (23.3%) with chronic ITP. The mean age of the registered patients was 55.93 ± 9.72 months. The most frequently observed bleeding symptoms were petechiae (68.3%), purpura (51.6%), and ecchymosis (13.3%). Among the newly diagnosed patients, 20 (33.3%) received intravenous immunoglobulin (IVIG), 17 (28.3%) were treated with prednisolone, and 17 (28.3%) received combined IVIG and steroid therapy. Of all patients, 40 (66.7%) demonstrated a complete response to treatment, while 16 (26.7%) exhibited a partial response. Four patients (6.7%) remained unresponsive to therapy. Treatment-related complications, such as Cushing's syndrome, edema, weight gain, hirsutism, and mood disorders, were reported in 10 patients (16.6%). However, the majority of patients (81.7%) did not experience therapy-related complications. CONCLUSION: The pilot phase of the NPITP registry successfully implemented a web-based software tool for data collection, aiming to enhance the quality of care, facilitate clinical research, and support health service planning in the future.

A comprehensive study of modified three-month pediatrics training curriculum at Shahid Beheshti University of Medical Sciences and its impact on student satisfaction.

OBJECTIVES: Continuous curriculum improvements reveal the dedication of policy-makers to raising the quality of education and student learning. This study aims to report the impact of curriculum changes to the three-month pediatric course curriculum at Shahid Beheshti University of Medical Sciences (SBMU) on the satisfaction levels of medical students. METHODS: One hundred eighteen 4th-5th years medical students, who had completed their pediatric clinical rotation in SBMU-affiliated teaching hospitals including Mofid Children Hospital, Loghman Hakim Hospital, Shohada-e-Tajrish Hospital, and Imam Hossein Hospital from January to December 2022 were included in this cross-sectional study. After obtaining informed consent, a questionnaire was sent out to all participants, that included 27 statements about the impact of the modified curriculum on their satisfaction with their learning and performance. SPSS version 22 was used to analyze the data. RESULTS: The level of satisfaction of trainees from attending clinics was 82-56%, prior introduction to the course was about 82%, and attending general hospitals (all hospitals except Mofid Children hospital, which is the only children hospital affiliated to SBMU) was 82-97%. The quality of patients-based learning was reported in terms of attendance at morning report sessions which was 92.3%, attendance at ward rounds, which was 71.8%, and attendance at clinics, which was 62.4%. The satisfaction rate from the senior attending mentor was 96.5%. The satisfaction rate of the pathology course was 67.2%, and the radiology was 82.4%. The satisfaction level of medical students from the infectious disease department was 70% and the gastroenterology department was 83.8%. The level of satisfaction with the implementation of the twelve-week program was 68.7%, with the expressiveness and usability of the presentation of materials was 53.9%, with the compatibility of the exams with the presented materials was 92%, and withholding weekly exams was 86.8%. The satisfaction rate of using the materials presented in the final exam in the digestive department and the infectious department was 85% and 68%, respectively. The overall satisfaction rate of the training course was 76.66%. CONCLUSION: The results provide vital insights for improving medical education. According to this study, medical student satisfaction with the pediatric curriculum after its recent revisions was in a satisfactory range. Attendance at clinics, information sharing, patient-based learning, practical training, attending mentorship, curriculum clarity, and alignment with student expectations all contributed to participants' high levels of satisfaction.

Quality of Life and Related Factors in ß-Thalassemia Patients.

The ß-thalassemias are a group of genetic disorders defined by decreased levels of functional hemoglobin (Hb). In light of pivotal improvements in patient survival, the load of consistent treatment harms patients' quality of life (QOL). This study aimed to determine the QOL in patients with ß-thalassemia (ß-thal) in Iran and identify associated factors. This cross-sectional study was conducted among 1240 patients with ß-thal. Data for this study were obtained from the General, the TranQol (Transfusion-dependent QoL) Standard, and the Multidimensional Scale of Perceived Social Support (MSPSS) questionnaires. The univariate and multivariable linear regression was used in STATA version 14 to identify factors related to QOL. Overall, the QOL score was 103 ± 21.96, and adults had a higher score than children under 15 years old. Emotional health had the highest score (39.96 ± 11.54), and sexual activity in adults (1.87 ± 2.08) and activities related to education in children (10.43 ± 7.46) had the lowest. The multivariable linear regression analysis showed that the age, gender, age of blood transfusion initiation, Hb level, number of underlying diseases, and social support level by family and community significantly impact QOL. In exchange for an increase in comorbidities, patients' QOL decreased by 86.0% [odds ratio (OR) = 0.14, 95% confidence interval (95% CI): 0.04-0.45]. Many factors affecting the QOL can be controlled, so social support, increased Hb levels, regular and timely blood transfusions, and treatment can improve the thalassemia patients' QOL.

Intravesical alprostadil as a promising agent in BK virus-associated hemorrhagic cystitis: A report of a refractory case.

Allogeneic stem cell transplant recipients are at risk of BK virus-associated hemorrhagic cystitis. This condition causes a significant morbidity and worsens clinical outcomes. The standard cares for BK virus-associated hemorrhagic cystitis are saline irrigation and forced diuresis. Notably, several beneficial roles are proposed for antiviral and anti-inflammatory agents against BK virus-associated hemorrhagic cystitis. However, cases who are at risk of cystectomy remain refractory. Herein, we present a 13-year-old boy with severe hematuria by passing two months from his allogeneic stem cell transplantation. The laboratory work up showed high BK viremia >1.1 ×  108 copies/ml in this case's urine sample. The patient was treated with antiviral agents in combination with supportive care. Moreover, intravesical alum was administered, but no clinical benefits were achieved. Finally, intravesical alprostadil was prepared under the supervision of a pediatric clinical pharmacist. In this regard, an alprostadil solution was prepared by constitution of 250 µg alprostadil in 50 mL saline. After administrating the first dose of intravesical alprostadil, an acceptable clinical response was observed, and hematuria stopped. Of note, alprostadil induces platelet aggregation and vasoconstriction. Thus, bleeding can be controlled after the administration of intravesical alprostadil. This strategy may be associated with several side effects including bladder spasm. This study is the first report describing the special role of intravesical alprostadil in refractory cases of BK virus-associated hemorrhagic cystitis. In such refractory cases, clinicians can use intravesical alprostadil rather than invasive therapies in the treatment of BK virus-hemorrhagic cystitis.

Promotion of Burn Wound Healing by Local Application of Adipose-Derived Mesenchymal Stem Cells: An Experimental Study.

Background:The burn wound is one of the health problems in the world that affects physical and mental health. Today, adipose-derived mesenchymal stem cells (ADSCs) have received medical attention for their accessibility and the ability to reproduce and repair. The present study was designed to investigate the effect of ADSCs on burn wound healing. Methods : The present experimental study was performed on 36 male Wistar rats divided into 1 control group and 3 experimental groups. The second-degree burns with a radius of 10 mm were induced after anesthesia. ADSCs and Dulbecco's Modified Eagle Medium (DMEM) were injected into the dermis around the burn area in the ADSCs and DMEM groups, respectively. Silver sulfadiazine (SSD) ointment was applied topically once daily as the SSD group. The control group did not receive any treatment. The rats were evaluated for 21 days. Wound healing rate, histopathological parameters, and the number of fibroblasts were evaluated by the immunofluorescence technique and vascular endothelial growth factor and transforming growth factor ß (TGF-ß) gene expression by reverse transcription-polymerase chain reaction. The results were entered into SPSS software (SPSS Inc) and analyzed with 1-way analysis of variance and repeated measures analysis. Results: The number of fibroblasts, the number of vessels, TGF-ß, and VEGF gene expression in the burn area were significantly higher in the ADSCs group than in the SSD, DMEM, and control groups. The results also showed that the amount of inflammation was significantly lower in the ADSCs group compared with the control group (p<0.001). Moreover, the percentage of wound recovery was significantly higher in the ADSCs group compared with other groups (p<0.001). Conclusion: ADSCs accelerate and improve burn wound healing by affecting fibroblasts, keratinocytes, and inflammatory cells as well as increasing the expression of the TGF-ß and VEGF genes, and thus increase in angiogenesis.

Progesterone Enhanced Remyelination in the Mouse Corpus Callosum after Cuprizone Induced Demyelination.

BACKGROUND: Progesterone as a sex steroid hormone is thought to affect and prevent demyelination, but its role in promoting myelin repair is far less investigated. In this study, remyelinating potential of progesterone in corpus callosum was evaluated on an experimental model of MS. METHODS: In this experimental study, adult male C57BL/6 mice were fed with 0.2% (w/w) cuprizone in ground breeder chow ad libitum for 6 weeks. At day zero, after cuprizone removal, mice were divided randomly into two groups: (a) placebo group, which received saline pellet implant, (b) progesterone group, which received progesterone pellet implant. Some mice of the same age were fed with their normal diet to serve as the healthy control group. Two weeks after progesterone administration, Myelin content was assessed by Luxol-fast blue staining. The myelin basic protein (MBP) and proteolipid protein (PLP) expression were assessed using Western blot analysis and the changes in the number of oligodendrocytes and oligodendroglial progenitor cells were assessed by immunohistochemistry (IHC) and flow cytometry. RESULTS: Luxol-fast blue staining revealed enhanced remyelination in the progesterone group when compared with the placebo group. Densitometry measurements of immunoblots demonstrated that MBP and PLP proteins contents were significantly increased in the progesterone group compared with the placebo group. Flow cytometry and IHC analysis showed increases in Olig2 and O4 cells in the progesterone group compared with the placebo group. CONCLUSION: Overall, our results indicate that progesterone treatment can stimulate myelin production and that it may provide a feasible and practical way for remyelination in diseases such as multiple sclerosis.

Sertoli Cell-Conditioned Medium Induces Differentiation of Bone Marrow-Derived Mesenchymal Stem Cells to Male Germ-Like Cells in Busulfan-Induced Azoospermic Mouse Model.

Non-obstructive azoospermia is a severe form of male infertility, with limited effective treatments. Bone marrow mesenchymal stem cells (BMSCs) can differentiate to different cell lines; therefore, transplantation of these cells is used for treatment of several diseases. Since these cells require induction factors to differentiate into germ cells, we co-transplanted bone marrow stem cells (BMSCs) with Sertoli cell-conditioned medium (SCCM) into the testis of azoospermic mice. This study was carried out in two sections, in vitro and in vivo. For in vitro study, differentiating factors (c-kit and ID4) were examined after 15 days of co-culture of bone marrow cells with Sertoli cell-conditioned medium, while for in vivo study, the azoospermia model was first created by intraperitoneal administration of a single-dose busulfan (40 mg/kg) followed by single-dose CdCl2 (2 mg/kg) after 4 weeks. Mice were divided into 4 groups including control (azoospermia), BMSC, SCCM, and BMSC + SCCM. Eight weeks after transplantation, samples were assessed for proliferation and differentiation via the expression level of MVH, ID4, SCP3, Tp1, Tp2, and Prm1 differentiation markers. The results showed that BMSC co-cultured with SCCM in vitro differentiated BMSC to germ-like cells. Similarly, in vivo studies revealed a higher level of BMSC differentiation into germ-like cells with significant higher expression of differentiation markers in transplanted groups compared to the control. This study confirmed the role of SCCM as an inductive factor for BMSC differentiation to germ cells both in vivo and in vitro conditions.

Prevalence of Anemia and its Relation with Shwachman Score in Children with Cystic Fibrosis.

Background: Cystic fibrosis is a chronic and progressive genetic disease with a worldwide prevalence. As the disease progresses, symptoms develop, and make its management more challenging. Accumulating evidence suggests that early diagnosis of CF can significantly contribute to preventing reported nutritional problems including anemia, vitamin deficiencies, and hypoalbuminemia. This cross-sectional study was conducted to assess disease severity in cystic fibrosis patients using the Shwachman-Kulczycki score, as well as to determine its relation with anemia and vitamin D deficiency. Materials and Methods: Clinical and CF-related laboratory data were collected from the medical records of 57 CF patients with a definitive diagnosis. At the time of diagnosis, physicians performed simultaneous, blood sampling and scoring of patients using the Shwachman scoring system. Results: The mean age of patients was 16.12±6.48 years. Total scores of 86-100, 71-85, 56-70, 41-55, and <40, were reported in 5.4%, 7.1%, 14.3%, 14.3%, and 58.9% of CF patients, respectively. A significant correlation was found between disease severity and patients' age (P=0.02). The analysis also showed that the disease severity was significantly higher in anemic patients when compared to non-anemics (p =0.006). Based on the results, 33 patients with normochromic, 11 patients with microcytic, and 6 patients with macrocytic anemia were diagnosed in this study. We did not find a significant difference between disease severity and vitamin D levels (P=0.150). Conclusion: The scoring system used in the current study could reflect properly the clinical status of CF patients. However, simultaneous use of various methods using a larger sample size for comparison of results is suggested to improve the accuracy of findings.

HAX1 mutation in an infant with severe congenital neutropenia.

Severe congenital neutropenia (SCN) is a rare primary myelopoiesis disorder, characterized by persistent severe neutropenia and early-onset bacterial infections. Herein, we describe an 11-month-old male who was referred with recurrent cutaneous infections and chronic diarrhea. Serial complete blood counts indicated persistent neutropenia. Bone marrow aspiration of the patient demonstrated maturation arrest of myeloid series at promyelocyte-myelocyte stages. W44X mutation in the HAX1 gene confirmed the diagnosis of SCN. The patient was successfully treated with granulocyte colony-stimulating factor. Severe congenital neutropenia should be considered in children with early-onset recurrent infections and neutropenia, since early diagnosis and appropriate treatment can prevent further complications.

Congenital Bleeding Disorders amid the COVID-19 pandemic: Open questions and recommendations.

This article reviews the current knowledges of congenital bleeding disorders (CBD) amid the COVID-19 pandemic. It appears that CBD is not associated with higher risk of getting COVID-19 and so the prevalence of COVID-19 among them seems not higher compared to the general population. In absence of specific therapeutic recommendations, it is essential to make a correct assessment of the risk of haemorrhage/thrombosis. Based on expert opinion, strategies for outpatient management include adherence to prescribed regimens, telemedicine, and communication about COVID-19 in patients with CBD. More data should be also collected to better characterize the impact of COVID-19 on patients with CBD. The current findings encourage further studies to determine the prevalence of SARS-CoV2 infection in CBD patients to understand more fully the burden of this novel pathogen and to develop adequate preventive measures against this infection.

Expression Patterns for TETs, LGR5 and BMI1 in Cancer Stem-like Cells Isolated from Human Colon Cancer.

BACKGROUND: Colon tumor is generated and maintained by a small subset of chemo-resistant cancer cells known as Cancer Stem-like Cells (CSCs) that are able to self-renew and differentiate into various cell types within the cancer milieu. CSCs are identified through expression of CD133 that is the most important surface marker of these cells. Epithelial Cell Adhesion Molecule (EpCAM) is another colon CSCs marker. Other markers that are probably involved in colon tumorigenesis are Leucine-rich repeat-containing G-protein-coupled Receptor 5 (LGR5), B cell-specific Moloney murine leukemia virus insertion site 1 (BMI1) and Ten-Eleven Translocations (TETs). METHODS: Here, mRNA expression rates of LGR5, BMI1 and TETs were surveyed by real-time PCR. After collection and digestion, colon samples were used to isolate CD133 and EpCAM positive CSCs through evaluation of AC133 EpCAM by Magnetic Activated Cell Sorting (MACS) and flow cytometry. Real-time PCR was carried out for assessing expressions of LGR5, BMI1 and TETs. RESULTS: High expressions for LGR5, BMI1, TET1 and TET2 in the CD133 and EpCAM positive CSCs (p≤0.05 vs. non-CSCs) were found. TET3, however, showed no significant changes for mRNA expression in the CSCs. CONCLUSION: In conclusion, high mRNA expressions for LGR5, BMI1, TET1 and TET2 in the CD133 and EpCAM positive CSCs may be a useful criterion for better identification of the cells involved in colon cancer in order to specify therapeutic targets against this type of cancer.

Radio-Protective Effects of Melatonin on Subventricular Zone in Irradiated Rat: Decrease in Apoptosis and Upregulation of Nestin.

Neural stem cells are self-renewing, multipotent cells that can be found in subventricular (SVZ) and subgranular (SGZ) zones of the brain. These zones are susceptible to irradiation-induced apoptosis and oxidative stress. Melatonin (MLT) is a natural protector of neural cells against toxicity. The aim of this study was to evaluate the effects of MLT as a radio-protective material effective in reducing tissue lesions in the SVZ of the brain and changing local apoptotic potential in rats. Twenty-five Gray irradiation was applied on adult rat brain for this study. One hour before irradiation, 100 mg/kg/IP MLT was injected, and 6 h later, the animals were sacrificed. The antioxidant enzymes and MDA activity levels were measured post-sacrifice. Also, the expression level of Nestin and caspase 3 were studied by immunohistochemistry. Spectrophotometric analysis showed significant increases in the amount of malondialdehyde (MDA) levels in the irradiation-exposed (RAD) group compared to that of the control (Co) group (P < 0.05). Pre-treatment with MLT (100 mg/kg) ameliorates the harmful effects of the aforementioned 25 Gy irradiation by increasing antioxidant enzyme activity and decreasing MDA levels. A significant reduction in apoptotic cells was observed in rats treated with MLT 1 h before exposure (P < 0.001). Nestin-positive cells were also reduced in the RAD group (P < 0.001). Our results confirm the anti-apoptotic and antioxidant role of MLT. The MLT concentration used may serve as a threshold for significant protection against 25 Gy gamma irradiations on neural stem cells in SVZ.

Improvement of memory and learning by intracerebroventricular microinjection of T3 in rat model of ischemic brain stroke mediated by upregulation of BDNF and GDNF in CA1 hippocampal region.

BACKGROUND: Ischemic stroke is a common leading cause of death and disability with lack of effective therapies. In this study, T3 was intra-ventricularly injected to evaluate gene expression and protein concentration of and brain-derived neurotrophic factor (BDNF) and Glial cell-derived neurotrophic factor (GDNF) in hippocampal CA1 region in rat model of brain ischemia/reperfusion (I/R). METHODS: In this study, transient middle cerebral artery occlusion (tMCAo) was used as model of ischemic brain stroke. Rats were randomly divided in four groups of Co, Sh, tMCAo and tMCAo + T3. Then, a single dose of intra-ventricular T3 was administered via a Hamilton syringe. Passive avoidance test was used as behavioral investigations. After 21 days, the animals were sacrificed and their brains were used for molecular and histopathological studies. RESULTS: T3 significantly improved the learning and memory compared with tMCAo group according to Morris water maze findings (P < 0.05). Step-through latency (STL) significantly decreased in tMCAo group (P < 0.05). There were significant increase in the STL of T3 group compared with tMCAo group (P < 0.05).A significant reduction in BDNF mRNAs and protein levels were observed in the tMCAo compared with Co and Sh group (P < 0.05). A significant increase of BDNF and GDNF mRNAs and proteins was recorded in tMCAo + T3 group compared with Co, Sh and tMCAO groups (P < 0.05). CONCLUSIONS: The results of current study demonstrated that T3 had therapeutic effects on cerebral ischemic stroke by increasing the neurotrophic factors (BDNF, GDNF) in CA1 region of hippocampus. The effects of intracerebroventricular microinjection of T3on memory and learning in rat model of ischemic brain stroke.

The Neuroprotective Effects of Flaxseed Oil Supplementation on Functional Motor Recovery in a Model of Ischemic Brain Stroke: Upregulation of BDNF and GDNF.

Cerebral ischemic stroke is a common leading cause of disability. Flaxseed is a richest plant-based source of antioxidants. In this study, the effects of flaxseed oil (FSO) pretreatment on functional motor recovery and gene expression and protein content of neurotrophic factors in motor cortex area in rat model of brain ischemia/reperfusion (I/R) were assessed. Transient middle cerebral artery occlusion (tMCAo) in rats was used as model brain I/R. Rats (6 in each group) were randomly divided into four groups of Control (Co+normal saline [NS]), Sham (Sh+NS), tMCAo+NS and tMCAo+FSO. After three weeks of pretreatment with vehicle or FSO (0.2 ml~800 mg/kg body weight), the rats were operated in sham and ischemic groups. Ischemia was induced for 1 h and then reperfused. After 24 h of reperfusion, neurological examination was performed, and animals were sacrificed, and their brains were used for molecular and histopathological studies. FSO significantly improved the functional motor recovery compared with tMCAo+NS group (P<0.05). A significant reduction in brain-derived neurotrophic factor (BDNF) and glial cell-derived neurotrophic factor (GDNF) mRNAs and protein levels were observed in the tMCAo+NS group compared with Co+NS and Sh+NS group (P<0.05). A significant increase of BDNF and GDNF mRNAs and proteins was recorded in the tMCAo+FSO group compared with Co+NS, Sh+NS and tMCAO+NS groups (P<0.05). The results of the current study demonstrated that pretreatment with FSO had neuroprotective effects on motor cortex area following cerebral ischemic stroke by increasing the neurotrophic factors (BDNF, GDNF).

Successful Control of Massive Bleeding in a Child with Burkitt's Lymphoma via a Biosimilar Recombinant Activated Factor VII (AryoSeven™).

We describe a case of a 4-year-old girl with Burkitt's lymphoma, who suffered from a massive gastrointestinal hemorrhage 3 days after chemotherapy. In spite of applying the common practice in correction of coagulopathy, thrombocytopenia persisted and bleeding became life-threatening. In the present case report, we report a successful control of bleeding with a single-dose administration of a biosimilar recombinant activated human factor VII (AryoSeven).

Melatonin improve the sperm quality in forced swimming test induced oxidative stress in nandrolone treated Wistar rats.

This study investigates the effects of melatonin on the sperm quality and testis weight after the combination of swimming exercise and nandrolone decanoate (DECA). Two groups of male Wistar rats were treated for eight weeks as follows; group A consist of CO (control), Sham, N (DECA), S (swimming) and NS (DECA plus swimming); and group B: Sham M (sham melatonin), M (melatonin), MN (melatonin plus DECA), MS (melatonin plus swimming), MNS (melatonin, DECA plus swimming). The motility of sperm was significantly improved in melatonin groups in comparison to N, S and NS groups (P≤0.05).  The left testes weight was decreased in N, NS and MNS groups, and the right testes weight was decreased in N,S,NS, MS and MNS groups in compare with the control group. This study concluded that melatonin probably could improve the sperm motility and sex organs weight after the combination of DECA and exercise.

Low frequency of human T-cell lymphotropic virus 1 antibodies in Iranian gastric cancer patients in comparison to controls.

There is some evidence that human T-cell lymphotropic virus (HTLV-1) infection has a reverse association with gastric cancer (GC). Data about this association in the Iranian population are scarce. In this study we therefore assessed the frequency of anti-HTLV-1 antibody in GC patients and compare it to antibody presence in healthy individuals in Iranian population. This case control study was performed between 2008-2011 on 201 GC patients and 219 control subjects. HTLV-1 antibodies were assessed by ELISA and the positive results were confirmed by western blotting. Totals of 201 gastric cancer patients and 219 controls were enrolled in this study. The tumors in the majority of patients (45.3%) were in the distal (non-cardia) area. Mean age of patients at the time of diagnosis was 59.2±12.5 and mean age of controls was 57.7±11.3. While only one GC patient (0.5%) was positive for HTLV-1 antibody, there were four individuals (1.89%) from the control group with antibodies. In addition, smoking had statistically significant relationship with cancer (P=0.001). Our study showed that the frequency of HTLV-1 antibody in patients was lower than in controls, similar to the results obtained in Japan. Further investigations with a larger sample size are needed in order to determine the association between GC and HTLV-1 infection in Iran.

Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia.

BACKGROUND: G6PC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenia, early onset infections and additional organ involvement, especially cardiac and urogenital malformations. CASE PRESENTATION: In this report, we present the clinical details of a recently known case of severe congenital neutropenia (SCN) with G6PC3 mutation, who experienced the first episode of infections at birth. Repeated absolute neutrophil count of less than 500/µl was detected during work-up of sepsis in the first month of life. SCN was diagnosed and granulocyte colony-stimulating factor (GCSF) administration initiated. Bone marrow examination revealed maturation arrest in myeloid series at promyelocyte-myelocyte stage. Diarrhea, bronchiolitis, and urinary tract infection were other infectious complications, while hydronephrosis, atrial septal defect, and patent ductus arteriosus were other manifestations. CONCLUSION: Prompt and accurate diagnosis of neutropenic patients and appropriate treatment can prevent further complications and improve the quality of life of the affected patients.

Colonoscopy screening results in at risk Iranian population.

OBJECTIVES: To investigate the prevalence of colorectal adenomas and other advanced lesions in first degree relatives of Iranian patients diagnosed with colorectal cancer by colonoscopy and pathologic evaluation. METHODS: Iranian colorectal cancer patients (probands) were identified through pathologic reports of the regional cancer registry. First degree relatives (siblings, parents and offspring) of probands were evaluated for the existence of polyps and precancerous lesions via colonoscopy screening. Control patients were chosen among average risk population with no family history of colorectal cancer who agreed to colonoscopy screening. RESULTS: A total of 184 subjects underwent colonoscopy screening from April 2007 to March 2009. From 90 cases among families of probands, 70 (77.8%) had a normal colonoscopy result, 18 (20%) demonstrated polyps and 2 (2.2%) were diagnosed with colorectal cancer. Colonoscopy screening in 94 average risk control patients discovered polyps in 4 (4.3%) cases and the other 90 (95.7%) patients had normal total colonoscopy results. Mean age of cases with advanced lesions was 48.4∓10.2 and 41.5∓18.4 in control patients with polyps. The incidence of polyps was significantly higher in males, and in family case patients compared to controls. CONCLUSIONS: Based on colonoscopy screening, the prevalence of colorectal adenoma and precancerous lesions in first degree relatives of patients diagnosed with colorectal cancer is significantly higher than in the average risk population.

Prevalence of colorectal cancer in relatives of Iranian patients diagnosed with colorectal cancer.

BACKGROUND: A high rate of colorectal cancer occurrence is established in individuals with a positive family history of this type of cancer. OBJECTIVES: The aim of this study was to investigate the prevalence of colorectal cancer in first degree and second degree relatives of colorectal cancer patients. METHODS: Family medical histories of 489 first degree relatives of colorectal cancer patients were obtained by a questionnaire. 249 average risk patients with no family history of colorectal cancer were included as control patients. RESULTS: In our study from a total of 489 case patients, 153 (31.3%) had at least one close relative affected by colon cancer. Case-control analysis showed an odd ratio of 3.1 (95% CI, 2.07 to 6.27) for one and 5.7 (CI, 2.39 to 13.56) for two affected relatives. Cases with a positive family history had a 3.006 times greater risk in developing colorectal cancer if a first degree relative was affected comparing with a 4.9 times greater risk if a second degree family member was diagnosed with colorectal cancer. Our study indicated a higher risk for developing colorectal cancer in male family relatives 50 years and older. Rectal area was found the most tumor side affected in case and control patients. CONCLUSION: First-degree relatives of patients with colorectal cancer had an increased risk of developing this type of cancer. The risk was greater when diagnosis was in male, elderly patients and other first-degree relatives were affected.