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1.
BMC Pediatr ; 24(1): 223, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38561744

RESUMEN

BACKGROUND: Miliary tuberculosis (TB) is a lethal hematogenous spread form of mycobacterium tuberculosis with approximately 15-20% mortality rate in children. The present report highlights the clinical manifestations of an unusual presentation of miliary tuberculosis in a 12-year-old girl. CASE PRESENTATION: In this case, extensive lung involvement was presented despite the absence of respiratory symptoms. Also, some central hypo-intense with hyper-intense rim nodules were detected in the brain's pons, right cerebral peduncles and lentiform nucleus. CONCLUSION: The results of this study showed that severe miliary TB may occur even in a person who received the Bacille Calmette-Guérin (BCG) vaccine.


Asunto(s)
Mycobacterium tuberculosis , Tuberculosis Miliar , Niño , Femenino , Humanos , Tuberculosis Miliar/diagnóstico , Tuberculosis Miliar/tratamiento farmacológico , Vacuna BCG , Puente
2.
Int J Surg Case Rep ; 105: 108050, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36989626

RESUMEN

INTRODUCTION AND IMPORTANCE: Snake bites represent a significant public health issue worldwide, as venomous snake bites can result in lethal consequences if not treated promptly, including both local and systemic effects. The local symptoms of a snake bite commonly include tissue necrosis, edema, and compartment syndrome (CS). While CS is a rare complication following a snake bite, it may be more pronounced in children who typically have lower total dilution volume. Currently, the administration of anti-snake venom and prompt fasciotomy are the only specific treatments available for CS. CASE PRESENTATION: The present report details a case of CS of the right upper extremity in a three-year-old boy who suffered a snake bite on his right hand and was brought to the emergency department of a hospital in northern Iran after a lapse of 14 h. CLINICAL DISCUSSION: Snakebites frequently occur in the extremities, with about two thirds of them happening in the upper extremities. The skin of the dorsum is extremely thin, there is essentially little subcutaneous fat tissue, and there are numerous superficial veins in this area, particularly the hand. CONCLUSIONS: Following snake bites, the use of proximal tourniquets should be avoided, and the public's awareness of this need should be encouraged through health education. The prognosis for recovery following fasciotomy and the significance of follow-up and rehabilitation should also be explained to patients.

3.
PLoS One ; 17(9): e0274104, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36137147

RESUMEN

OBJECTIVES: This study aimed to assess the clinical characteristics, treatment and outcomes of the multisystem inflammatory syndrome in children (MIS-C) following COVID-19 in five different geographical regions of Iran. METHODS: In this multicenter observational study, patients <21 years were included between March 2020 and October 2021. By Disease Control and Prevention (CDC) checklist, demographic characteristics, comorbidities, clinical signs and symptoms, laboratory and radiology findings, and treatment were collected. Statistical analysis was using Chi-square and t-test in STATA14. RESULTS: In total 225 patients with median age of 55 (26-96) months were included that 59.56% boys. 57.33% were admitted to the PICU with a median of 7 days (4-10). 95.56% of patients were discharged with recovery and the rest died. All of the patients in our study were included based on the MIS-C criteria. However, some patients had Kawasaki symptoms, so we compared the clinical and epidemiological characteristics of the two groups. Conjunctival injection, cervical lymphadenopathy>1.5 cm diameter, and strawberry tongue in Kawasaki-like MIS-C patients were higher than of MIS-C patients, and this difference was significant(p<0.001). The most common comorbidity was obesity (24.86%). Most patients tested for COVID-19 and about 60% of the patients had a positive test by serology or reverse transcription-polymerase chain reaction (RT-PCR). Gastrointestinal (88.89%) and hematologic signs (84.44%) were most common. Most drugs used in patients were IVIG and steroids. 88.07% and 61.29% of the patients had at least one problem in echocardiography and lung CT, respectively. CONCLUSIONS: The best outcome was seen in patients who were treated with both IVIG and steroids on the first days of admission. Myocarditis was common in two groups of patients. According to most patients had echocardiography abnormal, screening of heart function is recommended for patients.


Asunto(s)
COVID-19 , COVID-19/complicaciones , COVID-19/epidemiología , Niño , Preescolar , Femenino , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Irán/epidemiología , Masculino , SARS-CoV-2 , Síndrome de Respuesta Inflamatoria Sistémica/diagnóstico , Síndrome de Respuesta Inflamatoria Sistémica/tratamiento farmacológico , Síndrome de Respuesta Inflamatoria Sistémica/epidemiología
5.
Front Med (Lausanne) ; 9: 919708, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35783616

RESUMEN

Background: Ivermectin which was widely considered as a potential treatment for COVID-19, showed uncertain clinical benefit in many clinical trials. Performing large-scale clinical trials to evaluate the effectiveness of this drug in the midst of the pandemic, while difficult, has been urgently needed. Methods: We performed two large multicenter randomized, double-blind, placebo-controlled clinical trials evaluating the effectiveness of ivermectin in treating inpatients and outpatients with COVID-19 infection. The intervention group received ivermectin, 0.4mg/kg of body weight per day for 3 days. In the control group, placebo tablets were used for 3 days. Results: Data for 609 inpatients and 549 outpatients were analyzed. In hospitalized patients, complete recovery was significantly higher in the ivermectin group (37%) compared to placebo group (28%; RR, 1.32 [95% CI, 1.04-1.66]; p-value = 0.02). On the other hand, the length of hospital stay was significantly longer in the ivermectin group with a mean of 7.98 ± 4.4 days compared to the placebo receiving group with a mean of 7.16 ± 3.2 days (RR, 0.80 [95% CI, 0.15-1.45]; p-value = 0.02). In outpatients, the mean duration of fever was significantly shorter (2.02 ± 0.11 days) in the ivermectin group versus (2.41 ± 0.13 days) placebo group with p value = 0.020. On the day seventh of treatment, fever (p-value = 0.040), cough (p-value = 0.019), and weakness (p-value = 0.002) were significantly higher in the placebo group compared to the ivermectin group. Among all outpatients, 7% in ivermectin group and 5% in placebo group needed to be hospitalized (RR, 1.36 [95% CI, 0.65-2.84]; p-value = 0.41). Also, the result of RT-PCR on day five after treatment was negative for 26% of patients in the ivermectin group versus 32% in the placebo group (RR, 0.81 [95% CI, 0.60-1.09]; p-value = 0.16). Conclusion: Our data showed, ivermectin, compared with placebo, did not have a significant potential effect on clinical improvement, reduced admission in ICU, need for invasive ventilation, and death in hospitalized patients; likewise, no evidence was found to support the prescription of ivermectin on recovery, reduced hospitalization and increased negative RT-PCR assay for SARS-CoV-2 5 days after treatment in outpatients. Our findings do not support the use of ivermectin to treat mild to severe forms of COVID-19. Clinical Trial Registration: www.irct.ir IRCT20111224008507N5 and IRCT20111224008507N4.

6.
Case Rep Infect Dis ; 2022: 5361305, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35669099

RESUMEN

Background: Post-COVID-19 nephropathies have been reported profusely in the literature with diverse pathophysiological mechanisms. To the best of our knowledge, this is the first report of transient distal (type 1) renal tubular acidosis (dRTA) in an infant with confirmed COVID-19. Case Presentation. We describe a 32-day-old female with diarrhea and fever without respiratory complaints. Her weight, height, and head circumference were normal for age. The primary lab test showed leukocytosis, neutrophilia, elevated inflammatory markers, and non-anion-gap metabolic acidosis. Real-time polymerase chain reaction (RT-PCR) and elevated SARS-CoV-2 immunoglobulin M confirmed COVID-19, while echocardiography and spiral chest computed tomography scan were normal. Intravenous fluid therapy and supportive care were initiated. Blood culture was positive for Klebsiella pneumoniae. Amikacin and cefotaxime were ordered. Although diarrhea and dehydration gradually improved, venous blood gas still showed metabolic acidosis. Due to the alkaline urine and hypokalemic-hyperchloremic metabolic acidosis, dRTA was diagnosed. Notably, the patient dramatically responded to Shohl's solution. Conclusions: Regarding the various manifestations of COVID-19, the possible association between dRTA and COVID-19 needs further investigation in children.

7.
Front Pediatr ; 10: 834306, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35295705

RESUMEN

Background: Kawasaki Disease is an acute and self-limited systemic inflammatory and febrile illness, which is the most common cause of acquired heart disease in children in developed countries. The incidence of KD in Asian countries is high. But, data is not available from the Middle East. So, the aim of this study was to develop an MDS to set up a national registry for KD to estimate the burden of disease in Iran. Materials and Methods: This cross-sectional and descriptive study was conducted in 2020. Literature review, data collection from patients medical records, and expert panel approach were used to design this MDS. Data elements with a Content Validity Ratio (CVR) of more than 0.56 were selected as the MDS of the registry. Results: Overall, 99 data elements were recognized. Of which, 51 and 48 data elements were verified and rejected, respectively. Moreover, 17 data elements were added as required by experts. Eventually, 68 data elements were chosen as the MDS of the national KD registry of IRAN; of which, 17 and 51 data elements were classified as administrative and clinical data, respectively. Conclusions: These precise, integrated, and comprehensive developed data elements and the national KD registry will lead to effective disease management and thus, improve the quality of care and, consequently, improve public health.

9.
Ann Med Surg (Lond) ; 68: 102653, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34341688

RESUMEN

INTRODUCTION AND IMPORTANCE: Foreign body aspiration (FBA) in adults may be asymptomatic or symptomatic. Fever and cough are the most common symptoms of Coronavirus infection and other causes of pneumonia. Regardless of the etiology of pneumonia, the first step in the treatment of FBA-associated pneumonia is to remove the foreign body from the airway. CASE PRESENTATION: A 32-year-old man was referred to our emergency department on October 26, 2020 with shortness of breath (SOB) and a cough. He was referred to the medical center with clinical suspicion of Coronavirus disease-19 (COVID-19), and his disease was treated considering COVID-19. Based on the persistence of his symptoms after discharge, he was referred to the hospital again, and the presence of a foreign body was confirmed by a rigid bronchoscopy, which was then removed. CLINICAL DISCUSSION: Our patient did not remember any history of aspirating solid particles, choking, or any other high-risk conditions associated with aspiration. Also, he had no symptoms with the exception of cough and SOB before the first admission. It means that asymptomatic FBA can be tolerated and go undiagnosed, particularly in adults, and manifests as a secondary complication, such as pneumonia. CONCLUSION: The FBA and other causal agents may mimic COVID-19 pneumonia. Consequently, FBA should be included in the COVID-19 differential diagnosis.

10.
Int J Pediatr ; 2021: 5558287, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34007286

RESUMEN

OBJECTIVE: Since December 2019, the coronavirus disease 2019 (COVID-19) has been spread rapidly all over the world, infecting all age groups with this novel virus. In this manuscript, we report characteristics of children with COVID-19 in Mazandaran province, northern Iran. METHOD: From 12 February to 28 July 2020, medical records of 100 children diagnosed with COVID-19 admitted to the hospitals of Mazandaran province were collected. Patients' age, gender, clinical symptoms, and signs, in addition to therapeutic management and outcomes, were reported. RESULTS: 57 (57%) boys and 43 girls with the mean age of 104.63 ± 79.14 months were evaluated. 20 patients (20%) were transferred to the PICU (pediatric intensive care unit), and 13 children experienced a severe form of the disease, pediatric inflammatory multisystem syndrome (PIMS). The mean duration of hospitalization was 5.3 ± 4.7 days. Fever (81%), respiratory (79%), gastrointestinal (47%), and neurologic complaints (29%) were experienced by the patients in addition to skin rash (14%). Sixty-two patients needed supplemental oxygen, and 6 of them underwent endotracheal intubation. Leukopenia was reported in 7, anemia in 24, and thrombocytopenia in 12 patients. 4 patients with underlying diseases including chronic renal failure, Down syndrome with cerebral palsy, and morbid obesity died. CONCLUSION: COVID-19 can cause symptoms in children in two stages. In the first week, upper and lower respiratory symptoms can occur which has lower severity and prevalence compared to adults. But after 2-3 weeks following infection, symptoms of MIS-C or multisystem involvement can occur and COVID-19 should be considered. The most common indication for admission is fever, rash, and respiratory problems.

11.
Clin Ther ; 43(6): 1007-1019, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-34052007

RESUMEN

PURPOSE: Given the coronavirus disease 2019 (COVID-19) pandemic, there is a global urgency to discover an effective treatment for patients withthis disease. This study aimed to evaluate the effects of the widely used antiparasitic drug ivermectin on outcomes in patients with COVID-19. METHODS: In this randomized, double-blind clinical trial, patients with COVID-19 admitted to 2 referral tertiary hospitals in Mazandaran, Iran, were randomly divided into 2 groups: intervention and control. In addition to standard treatment for COVID-19, the intervention group received a single weight-based dose (0.2 mg/kg) of ivermectin; the control group received the standard of care. Demographic, clinical, laboratory, and imaging data from participants were recorded at baseline. Patients were assessed daily for symptoms and disease progression. The primary clinical outcome measures were the durations of hospital stay, fever, dyspnea, and cough; and overall clinical improvement. FINDINGS: Sixty-nine patients were enrolled (mean [SD] ages: ivermectin, 47.63 [22.20] years; control, 45.18 [23.11] years; P = 0.65). Eighteen patients (51.4%) in the ivermectin group and 18 (52.9%) in control group were male (P = 0.90). The mean durations of dyspnea were 2.6 (0.4) days in the ivermectin group and 3.8 (0.4) days in the control group (P = 0.048). Also, persistent cough lasted for 3.1 (0.4) days in the ivermectin group compared to 4.8 (0.4) days in control group (PP = 0.019). The mean durations of hospital stay were 7.1 (0.5) days versus 8.4 (0.6) days in the ivermectin and control groups, respectively (P = 0.016). Also, the frequency of lymphopenia decreased to 14.3% in the ivermectin group and did not change in the control group (P = 0.007). IMPLICATIONS: A single dose of ivermectin was well-tolerated in symptomatic patients with COVID-19, and important clinical features of COVID-19 were improved with ivermectin use, including dyspnea, cough, and lymphopenia. Further studies with larger sample sizes, different drug dosages, dosing intervals and durations, especially in different stages of the disease, may be useful in understanding the potential clinical benefits ivermectin. Iranian Registry of Clinical Trials identifier: IRCT20111224008507N3.


Asunto(s)
COVID-19 , Ivermectina , Adulto , Humanos , Irán , Ivermectina/uso terapéutico , Masculino , Pandemias , SARS-CoV-2 , Adulto Joven
12.
BMC Public Health ; 21(1): 982, 2021 05 25.
Artículo en Inglés | MEDLINE | ID: mdl-34034709

RESUMEN

BACKGROUND: It has been determined that the coronavirus disease 2019 (COVID-19) pandemic needs social distancing and proper measures to prevent its spreading. This study aimed to determine COVID-19 knowledge, attitude, and practice among Sari Birth Cohort (SBC) members. METHODS: In this cross-sectional study linked to the SBC in north of Iran, mothers living in Sari and its suburbs from March 28 to April 8, 2020 were evaluated. The measurement tool was an online researcher-made, self-reported knowledge, attitude, and practice questionnaire related to COVID-19. RESULTS: In total, 1449 mothers with a mean age of 31.51 ± 5.73 years participated. Of them, 82.4% had good knowledge (98.6% in healthcare workers and 79.2% in housewives, p = 0.000). Most of them were worried about spread of the disease in the country (97.4%) and agreed that COVID-19 will finally be successfully controlled around the world (72.2%). Sleep disturbance was reported in 42.7% of mothers. Eighty-eight percent of cases wore masks and gloves when leaving home, 99.4% washed their hands frequently while 12.9% went to any crowded places. People with better knowledge followed safer practices (p = 0.000) and were more worried about the spread of the disease in the country and infection (among themselves and their first-degree relatives) (p = 0.000). CONCLUSIONS: Most of the SBC members had a good level of knowledge about COVID-19 but were worried about a long-term pandemic period. They also had good practices regarding the prevention of the disease.


Asunto(s)
COVID-19 , Conocimientos, Actitudes y Práctica en Salud , Adulto , Estudios Transversales , Brotes de Enfermedades/prevención & control , Humanos , Irán/epidemiología , SARS-CoV-2 , Encuestas y Cuestionarios
13.
J Clin Pharm Ther ; 46(5): 1469-1472, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33626597

RESUMEN

WHAT IS KNOWN AND OBJECTIVE: Brimonidine is increasingly used in the treatment of intraocular hypertension. CASE SUMMARY: We report on five paediatric patients suffering from brimonidine eye drop intoxication. The most frequent signs of the intoxication were a lowered level of consciousness and hypotonia. Other complications were apnea, bradycardia, hypotension and seizure. One of the patients needed cardiopulmonary resuscitation. Apnea in one of the cases was resistant to naloxone. Pupils were unremarkable in two cases. WHAT IS NEW AND CONCLUSION: Brimonidine is potentially lethal for young infants. The absence of miosis and absence of response to naloxone is not a reason to rule out brimonidine poisoning.


Asunto(s)
Tartrato de Brimonidina/efectos adversos , Femenino , Humanos , Lactante , Presión Intraocular/efectos de los fármacos , Masculino , Soluciones Oftálmicas
14.
Case Rep Pediatr ; 2021: 8836403, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33505752

RESUMEN

In the early stages of the outbreak of the novel coronavirus disease 2019 (COVID-19), it was assumed that this infection is very mild and uncommon in children. However, recent reports have shown that children may also develop the disease and its severe complications. These complications included shock, multisystem inflammatory syndrome in children (MIS-C), and pneumonia in children. A previously healthy 14-month-old boy presented with fever, irritability, and skin rash, besides changes in the lips, conjunctiva, and tongue. His medical history, clinical presentations, treatment, laboratory data, and follow-up information were recorded. He was treated according to the diagnosis of Kawasaki disease (KD). He had a history of close contact with a COVID-19 patient. However, the result of reverse transcription-polymerase chain reaction (RT-PCR) assay for COVID-19 was negative. Immunoglobulin M for COVID-19 was positive (1.20), while immunoglobulin G was negative (0.37). Three weeks later, seroconversion of COVID-19 immunoglobulin G (1.42) occurred. Despite treatment with two doses of intravenous immunoglobulin and methylprednisolone, coronary artery ectasia was detected. On the sixth day of hospitalization, the patient experienced hypotension, which necessitated treatment with inotropic drugs and resulted in a change of diagnosis to MIS-C. The later echocardiography showed evidence of coronary artery aneurysm (CAA), which finally changed to giant CAA. Although the patient was treated with infliximab, the size of CAA showed a significant decrease in the one-month follow-up. This is the first report of MIS-C during the COVID-19 pandemic in Iran, accompanied by KD, which was complicated with giant CAA.

15.
BMC Pediatr ; 20(1): 513, 2020 11 09.
Artículo en Inglés | MEDLINE | ID: mdl-33167916

RESUMEN

BACKGROUND: Although symptoms and signs of COVID-19 (Coronavirus disease 2019) in children are milder than adults, there are reports of more severe cases which were defined as pediatric inflammatory multisystem syndrome (PIMS). The purpose of this report was to describe the possible association between COVID-19 and PIMS in children. METHODS: From 28 March to 24 June 2020, 10 febrile children were admitted with COVID-19 infection showing characteristics of PIMS in Buali tertiary hospital of Sari, in Mazandaran province, northern Iran. Demographic and clinical characteristics, laboratory and imaging findings, and therapeutic modalities were recorded and analyzed. RESULTS: The mean age of the patients was 5.37 ± 3.9 years (13 months to 12 years). Six of them were boys. Kawasaki disease, myocarditis, toxic shock syndrome, appendicitis, sepsis, urosepsis, prolonged febrile seizure, acute hemorrhagic edema of infancy, and COVID-19-related pneumonia were their first presentation. All of them had increased C-reactive protein levels, and most of them had elevated erythrocyte sedimentation rate, lymphopenia, anemia, and hypoalbuminemia. Three of them had thrombocytopenia(PLT < 106). Six of them were serologically or polymerase chain reaction positive for COVID-19, and 4 of them were diagnosed as COVID-19 just by chest computed tomography scan. Most of the patients improved without a residual sequel, except one who died with multiorgan failure and another case was discharged with a giant coronary aneurysm. CONCLUSIONS: Children with COVID-19 may present symptoms similar to Kawasaki disease and inflammatory syndromes. PIMS should be considered in children with fever, rash, seizure, cough, tachypnea, and gastrointestinal symptoms such as vomiting, diarrhea, and abdominal pain.


Asunto(s)
Betacoronavirus , Infecciones por Coronavirus/diagnóstico , Neumonía Viral/diagnóstico , Síndrome de Respuesta Inflamatoria Sistémica/virología , Betacoronavirus/aislamiento & purificación , COVID-19 , Prueba de COVID-19 , Niño , Preescolar , Técnicas de Laboratorio Clínico , Infecciones por Coronavirus/complicaciones , Infecciones por Coronavirus/terapia , Femenino , Humanos , Lactante , Irán , Masculino , Pandemias , Neumonía Viral/complicaciones , Neumonía Viral/terapia , SARS-CoV-2 , Síndrome de Respuesta Inflamatoria Sistémica/diagnóstico , Síndrome de Respuesta Inflamatoria Sistémica/terapia
16.
Int Med Case Rep J ; 13: 335-340, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32821174

RESUMEN

INTRODUCTION: Clinical presentations of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vary among patients, which make a confusing challenge for clinicians to diagnose the disease. While the disease is not rare, but the symptoms may be atypical in children. CASE PRESENTATION: A 12-month-old boy with fever and rash without respiratory complaints at the onset of the disease presented to the hospital. His illness was then accompanied by severe anemia, hypoalbuminemia, hypoxemia, and pleural effusion. The nasopharyngeal swab polymerase chain reaction test was positive for the novel coronavirus. Despite primary normal lung imaging, the second imaging was typical for the disease on the third day of admission. DISCUSSION: Dermatologic manifestations of the novel coronavirus infection are not rare during the illness but rarely occur at the onset of the disease. Information about the cutaneous manifestations of SARS-CoV-2 and its time interval from the onset of the disease in children are not clear yet. Severe anemia, hypoalbuminemia, and pleural effusion are not reported as classic findings of the novel SARS-CoV-2. They may be considered as a consequence of the hyperinflammatory response or direct effect of the virus. CONCLUSION: As a different manifestation of SARS-CoV-2, infected children may initially present fever and rash. More studies are needed to discover the cause of these complications. The correct answer may lead to better insight and more effective treatment.

17.
J Pediatr Neurosci ; 15(1): 5-8, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32435298

RESUMEN

BACKGROUND: Febrile seizure (FS) is one of the most common types of seizure in pediatrics. OBJECTIVE: The aim of this study was to compare serum sodium in children with simple or recurrent FS and seizure without fever. MATERIALS AND METHODS: This was a cross-sectional prospective study conducted between September 2015 and April 2017 in patients aged between 6 months and 6 years, who were admitted to a tertiary educational medical center in the north of Iran. Patients were categorized into three groups, group A: simple FS, group B: recurrent FS, and group C: afebrile seizure. Serum sodium level was measured on admission and/or when the seizure occurred. RESULTS: The study included 248 patients aged 6 months to 6 years. Their mean age was 22.38 ± 1.34 months. Hyponatremia was found in 6% of group A, 7.5% of group B, and 6% of group C. The mean sodium level in group A (134.46 ± 2.3 mEq/L) and group B (134.35 ± 2.06 mEq/L) did not disclose meaningful difference, but it was significantly lower in febrile groups than in the control group. CONCLUSION: Although the results did not show that the lower level of serum sodium increased the risk of seizure recurrence during the next 24h in febrile illness, lower serum sodium concentration was more common in FS groups.

18.
J Clin Neurosci ; 72: 342-349, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31959559

RESUMEN

Brown-Vialetto-Van Laere syndrome, a rare neurological disorder is due to SLC52A3 mutations. Here, the SLC52A3 protein and its mutations are in silico structurally and functionally analyzed among all the reported patients and a novel mutation is also reported. After clinical evaluations, SLC52A3 gene was sequenced and segregation analysis of the mutations was also checked. A comprehensive search was performed on the reported mutations of SLC52A3 gene. In silico structural and functional analyses of the mutations and interactome analyses of the protein were done using available software tools. Mutations of 37 affected individuals were identified. Thirty three mutations were determined. c.502A > C was a novel variant that it was segregated within the family. One mutation (c.639C > G) was responsible for 12% of the mutations. Segregation analysis, secondary structure, functional prediction achieved for the novel mutation showed pathogenicity of this variant. BVVL is a very rare disorder; SLC52A3 mutations are distributed among different populations and there might be one frequent mutation in this gene. BVVL should be more considered in Iran. In addition to segregation analysis, computational analyses could accelerate understanding the extent of pathogenicity of the novel variants.


Asunto(s)
Parálisis Bulbar Progresiva/genética , Pérdida Auditiva Sensorineural/genética , Proteínas de Transporte de Membrana/genética , Simulación por Computador , Femenino , Humanos , Irán , Masculino , Mutación
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