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1.
Cureus ; 16(4): e57505, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38577168

RESUMO

BACKGROUND: Awareness about obesity, its complications, and an age-appropriate, healthy, active lifestyle are essential to maintaining a healthy life. This study aimed to determine the level of awareness Saudi Arabian caregivers have regarding obesity and regular physical activity. MATERIALS AND METHODS: In this cross-sectional study, a survey was conducted among parents in Saudi Arabia using a structured questionnaire. A convenience and snowball sampling method was employed to recruit participants from various regions of Saudi Arabia. The questionnaire assessed parents' knowledge about obesity, its complications, and healthy, active lifestyle practices. Data were analyzed using descriptive statistics, and associations between variables were examined using chi-squared tests. RESULTS: In this study, responses from 256 moms in various Saudi Arabian locations were included in the analysis. Merely 35.5% of the participants demonstrated good knowledge about obesity and its complications. Regarding the promotion of a healthy, active lifestyle, only 11.3% of the participants were aware that kids should eat five types of vegetables and fruits daily, whereas 85% were aware that kids should have <2 hours a day of screen time, and 75.4% were aware that kids should be engaged in physical activity for at least one hour daily. CONCLUSION: This study highlights a concerning gap in knowledge among caregivers in Saudi Arabia concerning obesity and its consequences, with merely 35.5% of participants demonstrating a good understanding of obesity and its complications. Alarmingly, only a fraction (11.3%) showed awareness of the importance of promoting a healthy, active lifestyle. These findings underscore the urgent need for enhanced awareness initiatives focused on obesity and its prevention to ensure optimal child health development, avert health issues, and strengthen positive dynamics between parents and children.

2.
Cureus ; 16(2): e53888, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38465157

RESUMO

Consanguineous marriages, where spouses are related by blood, have been a longstanding practice in human history. The primary medical concern with consanguineous marriages is the increased risk of genetic disorders. When closely related individuals reproduce, there is a higher probability that both parents carry the same genetic mutation. In Arab countries, especially Saudi Arabia, the rate of consanguineous marriage is high compared with Western European and Asian countries. This high rate is directly proportionate with elevated risk of genetic disorders, including congenital heart diseases, renal diseases, and rare blood disorders. Additionally, it was noted that the rate of negative postnatal outcomes is higher in consanguineous marriages compared with the general population. These observations indicate the necessity of tackling this area and highlighting the consequences of this practice. In this review, we aim to discuss the current evidence regarding the association between consanguineous marriages and genetic disorders in Saudi Arabia.

3.
Pediatr Rep ; 16(1): 232-242, 2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38535516

RESUMO

BACKGROUND: Acetaminophen overdose is a common clinical condition, often leading to liver toxicity. Current treatments involve the three-infusion N-Acetylcysteine (NAC) regimen (FDA-labeled), which may be complex, time-consuming, and need to be changed. An alternative uses two infusions instead, which offers possible advantages regarding simplicity and administration errors. This study sought to compare the respective efficacies and safety outcomes when treating acute acetaminophen overdose among children and adolescents. METHODS: At Montreal Children's Hospital, a retrospective study was conducted comparing pre-2003 FDA-labelled three-infusion NAC therapy with a two-infusion regimen. Information was collected regarding patient demographics, NAC administration details, errors, rates of hepatotoxicity, and adverse reactions, and the statistical test Chi-square test was employed to obtain the results. RESULTS: A total of 126 patients met the inclusion criteria. Of these patients, 65 received a two-infusion regimen, and 61 patients received the FDA-labeled regimen. The two-infusion group experienced significantly fewer administration errors (4 errors vs. 23 errors; p < 0.001), while the rates of hepatotoxicity between them were similar. There were no instances of liver transplantation or mortality due to either regimen. Adverse reactions occurred equally frequently between both regimens with no discernible difference-the meantime to administer NAC was 9 h for the two-infusion regimen and 8.5 h for FDA-labeled regimen groups, respectively. Three cases of hepatitis were successfully treated with timely NAC therapy, and no liver transplantation or mortality occurred. Adverse reactions, including anaphylactoid reactions, were observed in both groups but were resolved when temporarily stopped and restarted at a slower infusion rate. CONCLUSIONS: The two-infusion NAC regimen proved similar efficacy at protecting liver damage and improving patient outcomes compared to its FDA-labeled three-stage counterpart, with significantly fewer administration errors for this version of NAC treatment, suggesting potential advantages in terms of safety and simplicity. Future research should investigate larger cohorts and more variables to validate these results further and optimize the management of acetaminophen overdose cases; further investigation should focus on dosing strategies, personalized approaches, and long-term patient care in this context.

4.
Cureus ; 16(1): e52464, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38371110

RESUMO

Background Awareness of age-appropriate milestones and developmental stages is crucial for parents to identify any potential delays or concerns early on and seek appropriate interventions. This study aimed to assess the knowledge, attitudes, and practices of caregivers in Saudi Arabia regarding baby walkers, baby car seats, early dental visits, and screen time for young children. Methods A cross-sectional survey was conducted among parents in Saudi Arabia using a structured questionnaire. A convenience and snowball sampling method was employed to recruit participants from various regions of the country. The questionnaire aimed to assess parents' knowledge regarding the recommended use of baby walkers and baby car seats, their awareness of the importance of early dental visits, and their understanding of appropriate screen time guidelines. Additionally, the survey explored parents' practices toward these recommendations. Descriptive statistics were used to analyze the data, and associations between variables were examined using the chi-squared test. Results A total of 1318 participants were included. The analysis revealed that the majority of the participants (n=1066,81.3%) use a baby walker, while only (n=292,22.3%) consider that they should never be used. Overall, (n=388,29.6%) of the participants never used a car seat for their infants or children. In terms of early childhood dental visits, approximately (n=518,39.5%) of the participants reported actually taking their child to the dentist within the recommended timeframe. Regarding screen time for children, (n=148,11.3%) of the participants reported that their children spend >5 hours daily in front of the screen.  Conclusions Raising parents' awareness about recent childcare recommendations and safe practices is crucial for promoting optimal child development, preventing health problems, facilitating evidence-based decision-making, reducing risks, enhancing parental confidence and empowerment, and nurturing positive parent-child relationships.

5.
Patient Prefer Adherence ; 17: 2761-2772, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37936715

RESUMO

Background: Anxiety about using topical corticosteroids (TCS) for childrens among parents and caretakers is a common cause of treatment failure and an overall decline in the child's quality of life. The purpose of this study was to examine the perspectives and worries of parents of Atopic dermatitis (AD) children regarding TCS. Additionally, we investigate the degree of phobia in relation to the use of the TCS. Materials and Methods: A convenience sample of 301 parents of children who had been identified with atopic dermatitis from two hospitals in Taif city were enrolled in this study. Parents who chose to participate were sent a questionnaire measuring their level of fear of TCS using the TOPICOP© scale, which also included inquiries about their demographics and clinical characteristics. Multivariate analysis was used to determine what factors influence people's overall levels of fear. Results: The median global TOPICOP score was 66.6% (IQR 60.4-75%), SD 12.83%, which showed that nearly two-thirds of the participants showed corticosteroid phobia. A multifactorial ANOVA model showed that parents who had a female child with AD and mothers who had experienced drug allergies had a significant influence on TOPICOP scores (P<0.05). Conclusion: Topical corticosteroid phobia is widespread among parents of children patients with AD in Taif. Regarding the utilization of TCS, we place a strong emphasis on the significant role that physicians play as sources of reliable information and proper education.

6.
Children (Basel) ; 10(7)2023 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-37508763

RESUMO

BACKGROUND: The foremost cause of children's (1-19 year) death is inadvertent injuries. While most of these accidental harms occur at home and school, rapid and suitable parental and teacher intervention is required to increase the chances of a child's survival. Therefore, both parents and teachers of the children in kindergarten and elementary school must be knowledgeable in first aid practice and basic life support (BLS) training. OBJECTIVES: In the current study, our ambition is to evaluate the orientation level, knowledge, and attitudes around first aid and BLS training of kindergarten and elementary school teachers and parents in the city of Taif, Makkah region. METHODS: A cross-sectional study in Taif, Saudi Arabia, targeted kindergarten and elementary school teachers and parents of students enrolled at these levels. There were 648 participants included in this study. The researchers assessed teachers' and parents' knowledge and attitudes around first aid and BLS using a validated, self-administered online questionnaire. RESULTS: The study included 648 participants, including 248 (38.3%) teachers and 400 (61.7%) parents. The socio-demographic analysis showed that 412 (63.6%) are females and 233 (36.5%) are between the ages of 36 and 45 years. Approximately 142 (21.9%) participants reported previous training in the cardiopulmonary resuscitation (CPR) program, though more than half of them (53.5%) had outdated certificates (more than 2 years). The mean total knowledge for our study was 4.6 ± 1.4, with 22.4% of the participants being educated about first aid support and expressing a fair level of CPR foundations. Only a small percentage (2.3%) of the participants exposed a good and adequate theoretical level of knowledge around CPR skills and performance, while most of the contributors unveiled a poor level of knowledge (over 75%). There were no statistically significant differences between parents and teachers (p > 0.05). Finally, numerous participants (85%) appreciated training in the CPR program, and the most common motive was a "wish to avoid unnecessary death". CONCLUSIONS: We concluded that a sizable portion of the contributors expressed a lack of proficiency in the fundamental CPR training knowledge and skills, pointing to an alarming public concern. Promisingly, a sizable percentage of participants expressed motivated attitudes toward CPR training. Therefore, additional study and data are required to effectively combat injury, with an emphasis on investigating causes and risk factors, burden and socioeconomic health determinants, community awareness level and desire to contribute, and accessibility for disseminating specific intervention strategies.

7.
Cureus ; 15(2): e34871, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36923188

RESUMO

Background It is possible to define sleep disorders as any disturbance in sleep timing, quality, or quantity that results in daytime distress and impairment in functioning that, in turn, affects the baseline functional status of an individual. Our study aimed to describe how sleep disorders might affect pediatric inpatients at King Abdulaziz University Hospital (KAUH) as well as estimate their prevalence (2021-2022). We assessed the sleep habits using questionnaires and analyzed and combined these data to create rankings to compare the different issues affecting sleep habits in pediatric patients. Methodology Two scoring systems were used in this study, namely (a) the Children's Sleep Habits Questionnaire (CSHQ) and (b) the Pediatric Sleep Questionnaire. Analyses of the data were conducted using SPSS version 23 (IBM Corp., Armonk, NY, USA) and GraphPad Prism version 8 (GraphPad Software, Inc., San Diego, CA, USA). Results The prevalence of sleep disorders and their correlations were evaluated among 98 pediatric inpatients at KAUH, Saudi Arabia, between 2021 and 2022. The average duration of hospital stay was 11.97 ± 11.0 days (N = 78), and the average number of previous admissions was 2.85 ± 3.7 (N = 93). Conclusions According to the sleep behavior domain of the CSHQ, most children woke up sweating, screaming, and inconsolable during the night. Furthermore, bedtime resistance and sleep anxiety were the most prevalent sleep disturbances observed in the study population.

8.
J Child Neurol ; 35(9): 600-606, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32484036

RESUMO

OBJECTIVES: The purpose of this study was to prospectively evaluate sleep patterns and the presence of sleep-disordered breathing in children with myasthenia gravis. We further aimed to examine the relationship between sleep and daytime respiratory function using spirometry tests including upright and supine forced vital capacity, sniff nasal inspiratory pressure, and maximal inspiratory pressure. METHODS: Eleven children between 3 and 18 years old with confirmed myasthenia gravis were recruited from The Hospital for Sick Children Neuromuscular Clinic in this prospective observational study. After informed consent was obtained, patients underwent a comprehensive clinical assessment with collection of anthropometric data. Following this, all subjects performed pulmonary function tests, overnight polysomnography and completed the Epworth Sleepiness Scale questionnaire. RESULTS: Two of eleven children who reported no symptoms of sleep disordered breathing were diagnosed with mild to moderate obstructive sleep apnea. Pulmonary function tests showed abnormal maximal inspiratory pressure in 6 of 11 patients, whereas seated forced vital capacity as well as seated to supine forced vital capacity ratios were normal in the entire group. CONCLUSIONS: In our small group of pediatric myasthenia gravis subjects, there was an unexpected finding of obstructive sleep apnea in 2 of the 11 patients studied. Maximal inspiratory pressure appears to be a more sensitive method of detecting abnormalities compared to upright or seated forced vital capacity. A larger multicenter study is needed to validate our findings and to determine the impact of obstructive sleep apnea in the pediatric myasthenia gravis population as well as risk factors associated with sleep disordered breathing.


Assuntos
Miastenia Gravis/complicações , Miastenia Gravis/fisiopatologia , Transtornos Respiratórios/complicações , Transtornos Respiratórios/fisiopatologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Prospectivos , Síndromes da Apneia do Sono/complicações , Síndromes da Apneia do Sono/fisiopatologia , Espirometria , Capacidade Vital
9.
Pediatr Blood Cancer ; 66(2): e27503, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30345708

RESUMO

BACKGROUND: There are conflicting reports on the role of hydroxyurea (HU) in the pathogenesis of avascular necrosis of the femoral head (AVNFH) in patients with sickle cell disease (SCD). PROCEDURE: The present study is a prospective cohort study of Kuwaiti children with SCD who were treated with HU. They had magnetic resonance imaging of the hips before starting HU and at regular intervals during a follow-up period, ranging from 1 to 15 years. RESULTS: There were 40 patients (18 SS, 19 Sß0-thalassemia, and three SD genotypes), aged 6-20 years. Pre-HU, 11 (27.5%) had varying grades of AVNFH, while post HU, the prevalence was 32.5%. Two patients developed new lesions during the study, while five (45.5%) that had lesions pre-HU remained static, another five (45.5%) progressed, and one (9%) improved radiologically. The older patients who had been on HU the longest were more likely to deteriorate. The only hematological parameter that was consistently associated with AVNFH was the reticulocyte count. CONCLUSIONS: The frequency and rate of progression of AVNFH in this study is much less than that previously reported for our patients not treated with HU. There is no evidence that HU therapy is a risk factor for AVNFH. It may, in fact, prevent new lesions and deter the progression of existing AVNFH.


Assuntos
Anemia Falciforme/tratamento farmacológico , Antidrepanocíticos/efeitos adversos , Necrose da Cabeça do Fêmur/epidemiologia , Hidroxiureia/efeitos adversos , Adolescente , Criança , Feminino , Necrose da Cabeça do Fêmur/induzido quimicamente , Humanos , Imageamento por Ressonância Magnética , Masculino , Prevalência , Estudos Prospectivos , Adulto Jovem
10.
Sleep Breath ; 22(2): 511-515, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29027646

RESUMO

BACKGROUND: Obstructive sleep apnea (OSA) is a common disorder estimated at 1-5% in the school-aged children. With the obesity prevalence reaching staggering rates globally, OSA in obese adolescents is estimated to be 4-5-folds higher than their lean peers. There is a paucity of data regarding obesity-related OSA in children 6 years and less. This is particularly relevant as OSA is associated with neurocognitive deficits. The aim of this study is to evaluate the prevalence of OSA among obese toddlers and preschool children and further to determine what other factors may be associated with the presence of OSA. METHODS: A retrospective study involving children ≤6 years, identified from two Canadian pediatric tertiary care centers who had an in-lab polysomnography (PSG). Obesity was defined by a BMI of > 95th percentile for age and gender or a z-score of > 2. OSA was diagnosed if the obstructive apnea-hypopnea index (OAHI) was greater than 2 events per hour. RESULTS: There were 60 participants included; the mean age was 4.4 years (standard deviation [SD] ± 1.7), mean BMI z-score was 3.0 (SD ± 1.2). Of these, 22/60 (36.6%) had OSA. Compared with the non-OSA group, the OSA group had a higher Epworth sleepiness score (p = 0.03) and were more likely to snore (p = 0.01). CONCLUSION: Young obese children should be assessed for OSA. A history of snoring and daytime sleepiness may be useful indicators to facilitate triage for a PSG, especially in resource-limited settings.


Assuntos
Obesidade/epidemiologia , Apneia Obstrutiva do Sono/epidemiologia , Canadá/epidemiologia , Pré-Escolar , Feminino , Humanos , Masculino , Polissonografia , Prevalência , Estudos Retrospectivos
11.
Case Rep Pediatr ; 2017: 3280572, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29071163

RESUMO

Central sleep apnea (CSA) and periodic breathing are unusual findings described in pediatric patients with congestive heart failure. However, CSA has not been reported in children with pulmonary hypertension. We hereby report on a 10-year-old girl with idiopathic pulmonary arterial hypertension who had frequent central events in a periodic breathing fashion seen in her polysomnography, which was normalized following medical treatment leading to improvement of the pulmonary pressures.

12.
Sleep Breath ; 21(2): 513-519, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28190166

RESUMO

PURPOSE: Congenital central hypoventilation syndrome (CCHS) is characterized by ventilatory insensitivity to hypercapnia and hypoxemia during sleep and/or wakefulness. Management of CCHS includes a long-term ventilation. However, ventilation can be challenging given differences in the control of breathing during different sleep stages. Intelligent volume-assured pressure support (iVAPS) is a mode of Bi-level positive airway pressure (BPAP) ventilation in which the pressure support is modulated to ensure a constant alveolar ventilation. The aim of this study was to determine if BPAP with iVAPS mode is more effective at controlling hypercapnia than BPAP with spontaneous/timed (S/T) mode. METHODS: A retrospective chart review of CCHS patients who underwent both a titration polysomnogram (PSG) with standard BPAP S/T mode and a consecutive follow-up study with BPAP iVAPS mode at The Hospital for Sick Children, Toronto, Canada, between January 1, 2013 and September 30, 2015 were included. Comparisons were made between S/T mode and iVAPS mode. RESULTS: Eight (four males) children with CCHS were included. The median (IQR) age at the time of PSG using Bi-level ventilation with S/T mode for study participants was 10.0 (IQR 8.4, 11.6) years followed by PSGs with iVAPS mode, median age 10.6 (IQR 9.1, 12.5) years. The non-rapid eye movement (NREM) peak transcutaneous CO2 (tcCO2) median (IQR) for iVAPS was 43.0 (40.0-46.0-) mmHg versus 46.5 (45.0-48.0) mmHg for S/T mode, (p value <0.05). CONCLUSION: iVAPS was associated with a reduction in the maximum tcCO2 during NREM sleep as compared to traditional S/T mode. Prospective, longitudinal studies are needed to evaluate the benefits of BPAP therapy iVAPS mode for the treatment of pediatric CCHS.


Assuntos
Pressão Positiva Contínua nas Vias Aéreas/instrumentação , Hipoventilação/congênito , Apneia do Sono Tipo Central/terapia , Terapia Assistida por Computador/instrumentação , Criança , Pré-Escolar , Feminino , Humanos , Hipoventilação/diagnóstico , Hipoventilação/terapia , Lactente , Masculino , Polissonografia , Estudos Retrospectivos , Apneia do Sono Tipo Central/diagnóstico , Resultado do Tratamento
13.
Ann Thorac Med ; 12(1): 25-29, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28197218

RESUMO

INTRODUCTION: Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and upper airway obstruction. It is commonly associated with the secondary cleft palate. Infants with PRS commonly have sleep-disordered breathing (SDB); including obstructive sleep apnea (OSA) as well as central sleep breathing abnormalities that are present from infancy. AIM OF THE STUDY: Evaluate the prevalence and severity of SDB in infants with PRS using polysomnography (PSG). SETTINGS AND DESIGN: We retrospectively reviewed the sleep laboratory database at The Hospital for Sick Children, Toronto, during the period of May 2007 to March 2016. STATISTICAL ANALYSIS: Comparisons of PSG data were made between the OSA and non-OSA group using the Student's t-test for age and body mass index, Wilcoxon signed ranks test for the continuous PSG data and Chi-squared test for the categorical variables. METHODS: Patients with PRS were identified and their initial PSG was selected for this study. The main indication for referral was ongoing concerns regarding OSA symptoms. RESULTS: A total of 46 patients (28 females) were included with a mean age (±standard deviation) of 0.8 (±0.3) year. Twenty-two out of 46 (47%) had evidence of OSA of which 10 had mild, 3 had moderate, and 9 had severe OSA. The PRS infants with OSA were younger than the non-OSA group. Significant correlations were found between desaturation and arousal indices with obstructive apnea-hypopnea index. CONCLUSION: This retrospective chart review confirms a high prevalence of OSA in this population. Prospective longitudinal studies are needed to evaluate the outcomes of OSA in PRS population.

14.
Arch Dis Child ; 102(7): 634-638, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28130217

RESUMO

OBJECTIVE: To evaluate the course of sleep disordered breathing (SDB) in infants with Prader-Willi syndrome (PWS). DESIGN: Retrospective longitudinal observational study. SETTING: Sleep laboratory at The Hospital for Sick Children, Toronto, Canada. PATIENTS: Infants with PWS. MAIN OUTCOME MEASURES: The natural history of SDB in infants with PWS within 2 years from baseline assessment. RESULTS: We identified 28 (12 male) infants with PWS who had a baseline polysomnography (PSG) at a median age (interquartile (IQR)) of 0.9 (0.5, 1.1) years. The median central apnoea index (CAI) at baseline was 6.6 events/hour (IQR 2.6, 12.1). Of these, 15/28 (53%) infants with PWS were diagnosed with significant central sleep apnoea (CSA) (CAI≥5 events/hour). Median age (IQR) at follow-up PSG was 2.1 (1.5, 2.6) years. The median CAI improved from 6.6 to 2.3 events/hour (p<0.0001). Only four infants with PWS had persistent CSA at the time of the follow-up PSG. Furthermore, three infants with PWS were diagnosed with mild-to-moderate obstructive sleep apnoea (OSA) that has improved at follow-up studies whereas two patients with PWS with no evidence of OSA at baseline were diagnosed with severe OSA on the follow-up PSG requiring adenotonsillectomy. The overall median obstructive apnoea-hypopnoea index was similar between baseline and follow-up studies (0.6 and 0.8, respectively, p=0.91). CONCLUSIONS: CSA is prevalent in infants with PWS but usually improves with age. However, these patients continue to require ongoing PSG surveillance because some infants will have persistent CSA and others are at risk of developing OSA.


Assuntos
Síndrome de Prader-Willi/complicações , Síndromes da Apneia do Sono/etiologia , Apneia do Sono Tipo Central/etiologia , Pré-Escolar , Feminino , Humanos , Lactente , Estudos Longitudinais , Masculino , Polissonografia , Estudos Prospectivos
15.
Ann Hum Genet ; 73(1): 125-30, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18945288

RESUMO

This study was conducted to determine the prevalence of alkaptonuria in the UAE population and to identify the genotype of affected individuals. In a 3 stage sampling technique 2981 pupils from Government schools in Al Ain and private schools in Dubai were selected to take part in the study, of whom 2857 provided urine samples. Urine collected was analysed for homogentisic acid by gas chromatography-mass spectrometry. Genomic DNA was isolated from the white blood cells of all family members of the affected case following standard established protocols. Specific PRC primers were designed to amplify all 14 exons of the HGD gene with the flanking intronic sequences including the splice site sequences. 2857 children returned a viable urine sample, of which one was highly positive for homogentisic acid. All 12 members of this girl's family were studied and one, a 22 year old brother, was found to excrete HGA. Another, a sister who had not provided a urine sample, was discovered by genetic testing. There were no complaints of joint pain or other symptoms in any member of this family. Parents were first cousins. We found a single nucleotide deletion c.342delA, located in exon 3, which resulted in a frameshift at amino acid position 58 (p.Arg58fs or p.R58fs). Alkaptonuria may be more common than it is thought to be with an allele prevalence estimated at 0.0107 (95% CI 0.000392-0.03473). The R58fs mutation is old, perhaps having occurred several thousand years ago, and has spread over a large geographical area.


Assuntos
Alcaptonúria/genética , Mutação da Fase de Leitura , Homogentisato 1,2-Dioxigenase/genética , Deleção de Sequência , Alcaptonúria/epidemiologia , Alcaptonúria/urina , Sequência de Bases , Família , Feminino , Genótipo , Ácido Homogentísico/urina , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Emirados Árabes Unidos/epidemiologia
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