Fateme Ziyaee
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Fateme Ziyaee has a total of 64 co-authors. Here are the top co-authors by number of shared publications:
- Amir Saeed
Division of Intensive Care Unit, Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran
3 shared publications Ali Bahador
Shiraz Transplant Center, Abu-Ali Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran; Department of Pediatric Surgery, Shiraz University of Medical Sciences, Shiraz, Iran
2 shared publicationsBita Geramizadeh
Shiraz Transplant Center, Abu-Ali Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran
2 shared publicationsHamidreza Foroutan
Department of Pediatric Surgery, Shiraz University of Medical Sciences, Shiraz, Iran
2 shared publications- Hossein Fatemian
School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
2 shared publications Mahsa Rouhafshari
Department of Pediatric Gastroenterology, Shiraz University of Medical Sciences, Shiraz, Iran
2 shared publications
Latest Publications
- Open Access
- 29 August 2026
- Published by Brieflands in Journal of Comprehensive Pediatrics
- Vol. 17 (3) , e171508
Low Prevalence of Definite Migraine in Childhood-Onset Cyclic Vomiting Syndrome: A Retrospective Cohort Study from Southern Iran
Background: Cyclic vomiting syndrome (CVS) frequently overlaps with migraine; however, clinic-based data from the Middle East that use current standardized criteria remain limited. Objectives: We characterized age at diagnosis and follow-up duration in an unselected CVS population and compared patients with and without definite migraine according to the International Classification of Headache Disorders, 3rd edition (ICHD-3) criteria. Secondary objectives were to describe patterns of prophylactic medication use by age group and to explore their relationship with migraine status. Methods: We conducted a retrospective chart review of patients with a physician-documented CVS diagnosis who were referred during the study period to the Pediatric Gastroenterology clinics at Shiraz University of Medical Sciences in southern Iran. Migraine was classified as definite when the treating clinicians had applied the ICHD-3 criteria. Time since diagnosis was calculated as the current age minus the age at the initial CVS diagnosis. Continuous variables were compared using the Mann-Whitney U test, and categorical variables were compared using the χ2 or Fisher exact test. Results: Of 472 patients analyzed, 68 (14.4%) had definite migraine and 404 (85.6%) did not. Patients with migraine were significantly older at the last clinic visit (median, 18 vs 16 years; P < 0.001), whereas age at CVS diagnosis was similar between the groups (median, 5.5 vs 5.0 years; P = 0.243). Follow-up duration was significantly longer among patients with definite migraine (median, 12 vs 10 years; P = 0.028). A binary threshold of > 8 years indicated higher odds of extended follow-up among patients with migraine (80.9% vs 67.7%; OR, 2.01; 95% CI, 1.06 - 3.82). Prophylaxis was recorded in 295 patients (62.5%) and was more common among those aged ≥ 18 years than among those aged < 18 years (69.5% vs 58.4%; P = 0.016), with no overall association with migraine (16.6% vs 10.7%; P = 0.078). Conclusions: In this large consecutive cohort of childhood-onset CVS, definite migraine according to ICHD-3 criteria was more frequently identified in older patients, although age at the initial CVS diagnosis did not differ between groups. Longer follow-up among patients with definite migraine largely reflected older current age rather than earlier disease onset. Prophylactic treatment was more common in adulthood, without a clear statistical association with migraine status. These findings highlight the value of routine, age-appropriate migraine screening in CVS care and support future time-to-event analyses to disentangle aging from follow-up duration.
- 29 August 2026
- Published by Brieflands in Journal of Comprehensive Pediatrics
- Vol. 17 (3) , e171508
Open AccessLow Prevalence of Definite Migraine in Childhood-Onset Cyclic Vomiting Syndrome: A Retrospective Cohort Study from Southern Iran
Background: Cyclic vomiting syndrome (CVS) frequently overlaps with migraine; however, clinic-based data from the Middle East that use current standardized criteria remain limited. Objectives: We characterized age at diagnosis and follow-up duration in an unselected CVS population and compared patients with and without definite migraine according to the International Classification of Headache Disorders, 3rd edition (ICHD-3) criteria. Secondary objectives were to describe patterns of prophylactic medication use by age group and to explore their relationship with migraine status. Methods: We conducted a retrospective chart review of patients with a physician-documented CVS diagnosis who were referred during the study period to the Pediatric Gastroenterology clinics at Shiraz University of Medical Sciences in southern Iran. Migraine was classified as definite when the treating clinicians had applied the ICHD-3 criteria. Time since diagnosis was calculated as the current age minus the age at the initial CVS diagnosis. Continuous variables were compared using the Mann-Whitney U test, and categorical variables were compared using the χ2 or Fisher exact test. Results: Of 472 patients analyzed, 68 (14.4%) had definite migraine and 404 (85.6%) did not. Patients with migraine were significantly older at the last clinic visit (median, 18 vs 16 years; P < 0.001), whereas age at CVS diagnosis was similar between the groups (median, 5.5 vs 5.0 years; P = 0.243). Follow-up duration was significantly longer among patients with definite migraine (median, 12 vs 10 years; P = 0.028). A binary threshold of > 8 years indicated higher odds of extended follow-up among patients with migraine (80.9% vs 67.7%; OR, 2.01; 95% CI, 1.06 - 3.82). Prophylaxis was recorded in 295 patients (62.5%) and was more common among those aged ≥ 18 years than among those aged < 18 years (69.5% vs 58.4%; P = 0.016), with no overall association with migraine (16.6% vs 10.7%; P = 0.078). Conclusions: In this large consecutive cohort of childhood-onset CVS, definite migraine according to ICHD-3 criteria was more frequently identified in older patients, although age at the initial CVS diagnosis did not differ between groups. Longer follow-up among patients with definite migraine largely reflected older current age rather than earlier disease onset. Prophylactic treatment was more common in adulthood, without a clear statistical association with migraine status. These findings highlight the value of routine, age-appropriate migraine screening in CVS care and support future time-to-event analyses to disentangle aging from follow-up duration.
- Open Access
- 31 May 2026
- Published by Brieflands in Shiraz E-Medical Journal
- Vol. 27 (5) , e167354
Colonoscopic Reduction of Pediatric Intussusception: A Systematic Review
Context: Management of pediatric intussusception typically involves nonsurgical or surgical approaches. Although colonoscopy may offer therapeutic advantages, its precise role in pediatric intussusception remains uncertain. This systematic review aimed to evaluate the efficacy and safety of colonoscopy in the management of pediatric intussusception. Evidence Acquisition: A comprehensive literature search was performed in MEDLINE (via PubMed), EMBASE (via Ovid), Scopus, Web of Science, Google Scholar, ScienceDirect, the Cochrane Library, and the Trip Database, from inception to August 30, 2025. Two independent reviewers screened and selected studies involving pediatric patients (< 18 years) with intestinal intussusception who underwent colonoscopy. The search strategy included keywords and MeSH terms such as intussusception, colonoscopy, treatment, management, child, and infant. Results: A total of 121 infants and children with intestinal intussusception who underwent colonoscopy were evaluated. The overall success rate of colonoscopic reduction was 88.4% (range across studies, 66.7%–100%). Recurrence within 24 hours occurred in 11 patients (9.1%; range, 6.2%–26.7%). No colonoscopy-related complications were reported. Discussion: Colonoscopy is a safe and highly effective treatment option for pediatric intussusception, particularly in children who do not respond to reduction with saline enema.
- 31 May 2026
- Published by Brieflands in Shiraz E-Medical Journal
- Vol. 27 (5) , e167354
Open AccessColonoscopic Reduction of Pediatric Intussusception: A Systematic Review
Context: Management of pediatric intussusception typically involves nonsurgical or surgical approaches. Although colonoscopy may offer therapeutic advantages, its precise role in pediatric intussusception remains uncertain. This systematic review aimed to evaluate the efficacy and safety of colonoscopy in the management of pediatric intussusception. Evidence Acquisition: A comprehensive literature search was performed in MEDLINE (via PubMed), EMBASE (via Ovid), Scopus, Web of Science, Google Scholar, ScienceDirect, the Cochrane Library, and the Trip Database, from inception to August 30, 2025. Two independent reviewers screened and selected studies involving pediatric patients (< 18 years) with intestinal intussusception who underwent colonoscopy. The search strategy included keywords and MeSH terms such as intussusception, colonoscopy, treatment, management, child, and infant. Results: A total of 121 infants and children with intestinal intussusception who underwent colonoscopy were evaluated. The overall success rate of colonoscopic reduction was 88.4% (range across studies, 66.7%–100%). Recurrence within 24 hours occurred in 11 patients (9.1%; range, 6.2%–26.7%). No colonoscopy-related complications were reported. Discussion: Colonoscopy is a safe and highly effective treatment option for pediatric intussusception, particularly in children who do not respond to reduction with saline enema.
- Open Access
- 25 September 2025
- Published by Wiley in Clinical Case Reports
- Vol. 13 (10) , e71027
Pediatric Gastric Adenocarcinoma in the Setting of Celiac Disease: A Rare and Insightful Case Report
Gastric adenocarcinoma is exceptionally rare in children, often presenting with nonspecific gastrointestinal (GI) symptoms. This case highlights the importance of considering malignancy in pediatric patients with celiac disease and poor dietary adherence, as complications like gastric adenocarcinoma can arise. Early recognition and multidisciplinary management are crucial for improving outcomes in such rare and aggressive cases.
- 25 September 2025
- Published by Wiley in Clinical Case Reports
- Vol. 13 (10) , e71027
Open AccessPediatric Gastric Adenocarcinoma in the Setting of Celiac Disease: A Rare and Insightful Case Report
Gastric adenocarcinoma is exceptionally rare in children, often presenting with nonspecific gastrointestinal (GI) symptoms. This case highlights the importance of considering malignancy in pediatric patients with celiac disease and poor dietary adherence, as complications like gastric adenocarcinoma can arise. Early recognition and multidisciplinary management are crucial for improving outcomes in such rare and aggressive cases.
- Open Access
- 10 April 2025
- Published by Elsevier in Pediatrics & Neonatology
- Vol. 66 (6) , 573-578
Hepatic tumors in Iranian children: Characteristics and survival predictors
- 10 April 2025
- Published by Elsevier in Pediatrics & Neonatology
- Vol. 66 (6) , 573-578
Open AccessHepatic tumors in Iranian children: Characteristics and survival predictors
- Open Access
- 12 November 2024
- Published by Springer Nature in BMC Surgery
- Vol. 24 (1) , 1-7
Ethanol sclerotherapy in pediatric rectal prolapse: efficacy, complications, and influencing factors
Rectal prolapse is prevalent in children and the elderly, impacting quality of life significantly. Traditional surgical interventions carry risks, especially in pediatric patients. Ethanol sclerotherapy offers a less invasive alternative, inducing fibrosis and thickening of the rectal wall. Despite its potential benefits, procedural complications are possible, emphasizing the need for careful patient selection and procedural expertise. This study aims to evaluate the safety and efficacy of sclerotherapy in treating rectal prolapse in a tertiary referral center in southern Iran. Patient records from Nemazee Hospital covering January 2014 to December 2023 were retrospectively analyzed. Pediatric patients undergoing ethanol sclerotherapy for rectal prolapse were included. Data on demographics, presentation, procedures, and outcomes were collected. Ethical approval was obtained, and specific inclusion/exclusion criteria were applied. Statistical analyses were conducted using SPSS version 26. One hundred thirty patients were evaluated, with a mean age of 10.74 ± 5.320 years. Most patients experienced constipation (56.9%). 74.2% responded well to sclerotherapy, with 12.9% needing a second injection. Complications were minimal, with bleeding being the most common (4.6%). Recurrence occurred in 18.6% of cases. Male patients showed a higher total complication rate (P = 0.010). Diarrhea-dominant patients had no recurrences post-sclerotherapy. Age significantly influenced treatment response and recurrence (P = 0.017, P = 0.035). Male predominance contradicted global pediatric rectal prolapse ratios, possibly influenced by cultural factors. Sclerotherapy remains effective, though response rates vary. Older age correlated with lower response rates and higher recurrence. Constipation-dominant prolapse was associated with increased recurrence risk. Male patients had a higher complication rate, highlighting the need for tailored management strategies.
- 12 November 2024
- Published by Springer Nature in BMC Surgery
- Vol. 24 (1) , 1-7
Open AccessEthanol sclerotherapy in pediatric rectal prolapse: efficacy, complications, and influencing factors
Rectal prolapse is prevalent in children and the elderly, impacting quality of life significantly. Traditional surgical interventions carry risks, especially in pediatric patients. Ethanol sclerotherapy offers a less invasive alternative, inducing fibrosis and thickening of the rectal wall. Despite its potential benefits, procedural complications are possible, emphasizing the need for careful patient selection and procedural expertise. This study aims to evaluate the safety and efficacy of sclerotherapy in treating rectal prolapse in a tertiary referral center in southern Iran. Patient records from Nemazee Hospital covering January 2014 to December 2023 were retrospectively analyzed. Pediatric patients undergoing ethanol sclerotherapy for rectal prolapse were included. Data on demographics, presentation, procedures, and outcomes were collected. Ethical approval was obtained, and specific inclusion/exclusion criteria were applied. Statistical analyses were conducted using SPSS version 26. One hundred thirty patients were evaluated, with a mean age of 10.74 ± 5.320 years. Most patients experienced constipation (56.9%). 74.2% responded well to sclerotherapy, with 12.9% needing a second injection. Complications were minimal, with bleeding being the most common (4.6%). Recurrence occurred in 18.6% of cases. Male patients showed a higher total complication rate (P = 0.010). Diarrhea-dominant patients had no recurrences post-sclerotherapy. Age significantly influenced treatment response and recurrence (P = 0.017, P = 0.035). Male predominance contradicted global pediatric rectal prolapse ratios, possibly influenced by cultural factors. Sclerotherapy remains effective, though response rates vary. Older age correlated with lower response rates and higher recurrence. Constipation-dominant prolapse was associated with increased recurrence risk. Male patients had a higher complication rate, highlighting the need for tailored management strategies.
- Open Access
- 17 May 2024
- Published by Springer Nature in Journal of Medical Case Reports
- Vol. 18 (1) , 1-3
Large congenital cervical mass in a neonate: prenatal diagnosis and postnatal management of teratoma: a case report
Cervical teratomas are rare congenital neoplasms that can cause neonatal airway obstruction if large. The female Persian neonate displayed respiratory distress at birth, with a 7 cm × 8 cm cystic solid mass identified on the left side of the neck. Antenatal ultrasonography revealed polyhydramnios. Despite initial stabilization, the infant required intubation and mechanical ventilation due to persistent respiratory distress. Imaging confirmed a cystic mass compressing the trachea, ruling out cystic hygroma. Surgical resection on postnatal day 17 revealed a 10 cm × 10 cm solid cystic structure, histologically identified as an immature teratoma. Despite risks of poor fetal and postnatal outcome from large cervical teratomas, early surgical resection after airway stabilization can result in recovery. Proper multidisciplinary management of respiratory distress from such tumors is paramount.
- 17 May 2024
- Published by Springer Nature in Journal of Medical Case Reports
- Vol. 18 (1) , 1-3
Open AccessLarge congenital cervical mass in a neonate: prenatal diagnosis and postnatal management of teratoma: a case report
Cervical teratomas are rare congenital neoplasms that can cause neonatal airway obstruction if large. The female Persian neonate displayed respiratory distress at birth, with a 7 cm × 8 cm cystic solid mass identified on the left side of the neck. Antenatal ultrasonography revealed polyhydramnios. Despite initial stabilization, the infant required intubation and mechanical ventilation due to persistent respiratory distress. Imaging confirmed a cystic mass compressing the trachea, ruling out cystic hygroma. Surgical resection on postnatal day 17 revealed a 10 cm × 10 cm solid cystic structure, histologically identified as an immature teratoma. Despite risks of poor fetal and postnatal outcome from large cervical teratomas, early surgical resection after airway stabilization can result in recovery. Proper multidisciplinary management of respiratory distress from such tumors is paramount.
- Open Access
- 20 March 2023
- Published by Springer Nature in BMC Endocrine Disorders
- Vol. 23 (1) , 1-5
Treatment of septic shock in two pediatric patients with severe diabetic ketoacidosis using invasive hemodynamic monitoring: a case report
Background: Diabetic ketoacidosis (DKA) is a life-threatening complication of diabetes mellitus. DKA associated with shock is a rare condition that occurs due to the fluid deficit or septic shock. It is not easy to differentiate these two conditions by clinical judgment and laboratory findings. Although the fluid therapy is the mainstay in DKA treatment, it looks like a double-edged sword—underhydration may result in organ failure whereas overhydration may lead to pulmonary and cerebral edema (CE). Case presentation: Herein, we report on two pediatric patients presenting with DKA and septic shock. The first patient was an 8-year-old boy newly diagnosed with type 1 diabetes mellitus (T1DM) who presented with DKA and septic shock. We used a device for continuous hemodynamic monitoring (proAQT) to estimate his volume status. The patient was extubated 48 hours of hospitalization; the DKA was resolved after 52 hours of admission. He was discharged home in good condition on the 5th day. The second patient was a 13-year-old girl, a known case of T1DM, who presented with mixed DKA- hyperosmolar-hyperglycemic state (HHS) and septic shock. She was intubated and treated according to the data derived from pulse Contour Cardiac Output (PiCCO). After 3 days, she was extubated and transferred to the ward in good condition. Conclusion: Using invasive hemodynamic monitoring in critically ill children with severe DKA and hypotension might guide the physicians for hydration and selecting the most appropriate inotrope.
- 20 March 2023
- Published by Springer Nature in BMC Endocrine Disorders
- Vol. 23 (1) , 1-5
Open AccessTreatment of septic shock in two pediatric patients with severe diabetic ketoacidosis using invasive hemodynamic monitoring: a case report
Background: Diabetic ketoacidosis (DKA) is a life-threatening complication of diabetes mellitus. DKA associated with shock is a rare condition that occurs due to the fluid deficit or septic shock. It is not easy to differentiate these two conditions by clinical judgment and laboratory findings. Although the fluid therapy is the mainstay in DKA treatment, it looks like a double-edged sword—underhydration may result in organ failure whereas overhydration may lead to pulmonary and cerebral edema (CE). Case presentation: Herein, we report on two pediatric patients presenting with DKA and septic shock. The first patient was an 8-year-old boy newly diagnosed with type 1 diabetes mellitus (T1DM) who presented with DKA and septic shock. We used a device for continuous hemodynamic monitoring (proAQT) to estimate his volume status. The patient was extubated 48 hours of hospitalization; the DKA was resolved after 52 hours of admission. He was discharged home in good condition on the 5th day. The second patient was a 13-year-old girl, a known case of T1DM, who presented with mixed DKA- hyperosmolar-hyperglycemic state (HHS) and septic shock. She was intubated and treated according to the data derived from pulse Contour Cardiac Output (PiCCO). After 3 days, she was extubated and transferred to the ward in good condition. Conclusion: Using invasive hemodynamic monitoring in critically ill children with severe DKA and hypotension might guide the physicians for hydration and selecting the most appropriate inotrope.
- Open Access
- 17 October 2022
- Published by Brieflands in Archives of Pediatric Infectious Diseases
- Vol. 11 (2)
Bilateral Spontaneous Pneumothorax in a Child with Multisystem Inflammatory Syndrome Associated with COVID-19
Introduction: Spontaneous pneumothorax is a rare complication of coronavirus disease 2019 (COVID-19), primarily reported in adults. Pediatric cases with bilateral pneumothorax are much less reported. Case Presentation: We presented the case of a five-year-old previously healthy boy who developed persistent fever, abdominal pain, generalized maculopapular rash, and dyspnea before admission. His chest computed tomography (CT) showed a viral involvement pattern of pneumonia suggestive of COVID-19. Subsequently, he was confirmed with multisystem inflammatory syndrome in children (MIS-C). While he responded well to the therapies, on the fifth day of admission, he developed respiratory distress again. A chest roentgenogram showed bilateral spontaneous pneumothorax. Bilateral chest tubes were inserted, and his condition improved significantly after five days of admission to the intensive care unit. Two weeks later, he was discharged in good condition. Conclusions: Children with MIS-C associated with COVID-19 may develop primary spontaneous pneumothorax. Owing to the clinical picture overlapping with MIS-C associated with COVID-19, the timely diagnosis of pneumothorax may be challenging in such patients.
- 17 October 2022
- Published by Brieflands in Archives of Pediatric Infectious Diseases
- Vol. 11 (2)
Open AccessBilateral Spontaneous Pneumothorax in a Child with Multisystem Inflammatory Syndrome Associated with COVID-19
Introduction: Spontaneous pneumothorax is a rare complication of coronavirus disease 2019 (COVID-19), primarily reported in adults. Pediatric cases with bilateral pneumothorax are much less reported. Case Presentation: We presented the case of a five-year-old previously healthy boy who developed persistent fever, abdominal pain, generalized maculopapular rash, and dyspnea before admission. His chest computed tomography (CT) showed a viral involvement pattern of pneumonia suggestive of COVID-19. Subsequently, he was confirmed with multisystem inflammatory syndrome in children (MIS-C). While he responded well to the therapies, on the fifth day of admission, he developed respiratory distress again. A chest roentgenogram showed bilateral spontaneous pneumothorax. Bilateral chest tubes were inserted, and his condition improved significantly after five days of admission to the intensive care unit. Two weeks later, he was discharged in good condition. Conclusions: Children with MIS-C associated with COVID-19 may develop primary spontaneous pneumothorax. Owing to the clinical picture overlapping with MIS-C associated with COVID-19, the timely diagnosis of pneumothorax may be challenging in such patients.
- Open Access
- 1 October 2020
- Published by Maad Rayan Publishing Company in International Journal of Infectious Diseases
- Vol. 23 (10) , 665-671
An Update of Helicobacter pylori Prevalence and Associated Risk Factors in Southern Iran: A Population-Based Study
Background: The childhood period is considered to be the primary period for acquisition of the Helicobacter pylori. The high prevalence rates from developing countries are associated with gastric cancer. A decreasing trend of its prevalence has been reported from different parts of the world. Determining the prevalence rate could be important in choosing preventive strategies. This study aimed to determine the prevalence of H. pylori among a group of children from southern Iran to provide an update on the current status of the disease. Methods: This is a cross-sectional population-based study conducted in Shiraz, southern Iran, from January 2014 to December 2015. Four groups including neonates, children aged 6 months to 3 years, 10- and 15-year-old children were included. Multi-monoclonal stool antibody test was used for diagnosis. Results: Among 436 participants, 24.8% (95% CI: 20.8–29.1) had a positive test for H. pylori: 25% in neonates (95% CI: 16.2–36.1), 22% in children aged 6 months to 3 years (95% CI: 15.2–30.2), 19.5% in the 10-year-old (95% CI: 12.3–29.4), and 29.2% in 15-year-old children (95% CI: 21–39). Sex, age, number of siblings, owning a pet, parents’ smoking status, parental education, residential area, birth weight, and feeding status were not found to be statistically significant predictors of H. pylori antigen positivity (P > 0.05). Conclusion: The prevalence of H. pylori was estimated to be low in southern Iran in comparison with previous reports or other developing countries. Preventive strategies with respect to low prevalence rates may be considered in the childhood period.
- 1 October 2020
- Published by Maad Rayan Publishing Company in International Journal of Infectious Diseases
- Vol. 23 (10) , 665-671
Open AccessAn Update of Helicobacter pylori Prevalence and Associated Risk Factors in Southern Iran: A Population-Based Study
Background: The childhood period is considered to be the primary period for acquisition of the Helicobacter pylori. The high prevalence rates from developing countries are associated with gastric cancer. A decreasing trend of its prevalence has been reported from different parts of the world. Determining the prevalence rate could be important in choosing preventive strategies. This study aimed to determine the prevalence of H. pylori among a group of children from southern Iran to provide an update on the current status of the disease. Methods: This is a cross-sectional population-based study conducted in Shiraz, southern Iran, from January 2014 to December 2015. Four groups including neonates, children aged 6 months to 3 years, 10- and 15-year-old children were included. Multi-monoclonal stool antibody test was used for diagnosis. Results: Among 436 participants, 24.8% (95% CI: 20.8–29.1) had a positive test for H. pylori: 25% in neonates (95% CI: 16.2–36.1), 22% in children aged 6 months to 3 years (95% CI: 15.2–30.2), 19.5% in the 10-year-old (95% CI: 12.3–29.4), and 29.2% in 15-year-old children (95% CI: 21–39). Sex, age, number of siblings, owning a pet, parents’ smoking status, parental education, residential area, birth weight, and feeding status were not found to be statistically significant predictors of H. pylori antigen positivity (P > 0.05). Conclusion: The prevalence of H. pylori was estimated to be low in southern Iran in comparison with previous reports or other developing countries. Preventive strategies with respect to low prevalence rates may be considered in the childhood period.
- Open Access
- 14 January 2019
- Published by Springer Nature in BMC Medical Genetics
- Vol. 20 (1) , 1-6
A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Herein, we present the results of our study conducted to identify the pathogenic genetic variation involved in our patient affected by rigid spine muscular dystrophy. A 14-year-old boy, product of a first-cousin marriage, was enrolled in our study with failure to thrive, fatigue, muscular dystrophy, generalized muscular atrophy, kyphoscoliosis, and flexion contracture of the knees and elbows. Whole-exome sequencing (WES) was carried out on the DNA of the patient to investigate all coding regions and uncovered a novel, homozygous missense mutation in SEPN1 gene (c. 1379 C > T, p.Ser460Phe). This mutation has not been reported before in different public variant databases and also our database (BayanGene), so it is classified as a variation of unknown significance (VUS). Subsequently, it was confirmed that the novel variation was homozygous in our patient and heterozygous in his parents. Different bioinformatics tools showed the damaging effects of the variant on protein. Multiple sequence alignment using BLASTP on ExPASy and WebLogo, revealed the conservation of the mutated residue. We reported a novel homozygous mutation in SEPN1 gene that expands our understanding of rigid spine muscular dystrophy. Although bioinformatics analyses of results were in favor of the pathogenicity of the mutation, functional studies are needed to establish the pathogenicity of the variant.
- 14 January 2019
- Published by Springer Nature in BMC Medical Genetics
- Vol. 20 (1) , 1-6
Open AccessA novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Herein, we present the results of our study conducted to identify the pathogenic genetic variation involved in our patient affected by rigid spine muscular dystrophy. A 14-year-old boy, product of a first-cousin marriage, was enrolled in our study with failure to thrive, fatigue, muscular dystrophy, generalized muscular atrophy, kyphoscoliosis, and flexion contracture of the knees and elbows. Whole-exome sequencing (WES) was carried out on the DNA of the patient to investigate all coding regions and uncovered a novel, homozygous missense mutation in SEPN1 gene (c. 1379 C > T, p.Ser460Phe). This mutation has not been reported before in different public variant databases and also our database (BayanGene), so it is classified as a variation of unknown significance (VUS). Subsequently, it was confirmed that the novel variation was homozygous in our patient and heterozygous in his parents. Different bioinformatics tools showed the damaging effects of the variant on protein. Multiple sequence alignment using BLASTP on ExPASy and WebLogo, revealed the conservation of the mutated residue. We reported a novel homozygous mutation in SEPN1 gene that expands our understanding of rigid spine muscular dystrophy. Although bioinformatics analyses of results were in favor of the pathogenicity of the mutation, functional studies are needed to establish the pathogenicity of the variant.