A cross-sectional study on parental awareness for newborn screening and assessment of the burden of congenital hypothyroidism and glucose 6-phosphate dehydrogenase deficiency

2020 ◽  
Vol 6 (2) ◽  
pp. 132
Author(s):  
Rachita Nanda ◽  
Suprava Patel ◽  
Phalguni Padhi ◽  
Ritu Priya ◽  
Tripty Naik ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Dehydrogenase Deficiency ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Parental Awareness ◽  
Glucose 6 Phosphate Dehydrogenase

scholarly journals Newborn screening for congenital hypothyroidism: Impact of parents counseling on the uptake of program.

2020 ◽  
Vol 27 (11) ◽  
pp. 2350-2356
Author(s):  
Saima Naz Mohsin ◽  
Shafqat Zulfiqar ◽  
Amir Razi ◽  
Rabail Javed ◽  
Amir Razi
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Study Design ◽  
Cross Sectional Study ◽  
Counseling Session ◽  
Sectional Study ◽  
Cross Sectional ◽  
Significant Difference ◽  
Study Setting

Objectives: The objectives of the study were to screen newborns for congenital hypothyroidism and to compare effects of two different modes of awarenesson parent’s consent directed to newborn screening for congenital hypothyroidism. Study Design: Cross-sectional study. Setting: Shaikh Zayed Hospital Lahore Pakistan. Period: 2018 to 2019. Material & Methods: Both parents were counseled regarding the importance of newborn screening for CHT. The statistics of program during current study (after parents counseling) were compared with study conducted during 2010 to 2011 (when parents were provided with printed awareness brochures). Results: Frequency of confirmed cases of CHT was 2.4 in 1000 babies screened for CHT during current study period. Proportion of parents consented for screening was 57.3% & 41.1% respectively during two study periods. The proportion of parents consented for screening was increased by 16.2% subsequent to proper counseling, which is highly significant difference at p<0.0001. Conclusion: Proper counseling of both parents has improved the coverage of program. Therefore proper counseling session of parents regarding their baby’s screening for congenital hypothyroidism should be conducted in order to improve their understanding and to emphasize the importance and benefits of screening.

scholarly journals Parental awareness of headaches among elementary school-aged children in Riyadh, Saudi Arabia: A cross-sectional study

2021 ◽  
Vol 10 (4) ◽  
pp. 1773
Author(s):  
WaleedAbdulaziz Altwaijri ◽  
TulineA Almazyad ◽  
YaraAhmad Abuzaid ◽  
JumanahNasser Alkhater ◽  
DalalM Ashmawi ◽  
...  
Keyword(s):  
Elementary School ◽  
Saudi Arabia ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
School Aged Children ◽  
Parental Awareness

scholarly journals Disturbances of Amino Acid Metabolism in Neurologic Disorders detected by fluorescent high performance liquid chromotograghy (HPLC) in Baghdad - IRAQ

2019 ◽  
Vol 13 (1) ◽  
pp. 39-45
Author(s):  
Adel A. Kareem
Keyword(s):  
Amino Acids ◽  
High Performance Liquid Chromatography ◽  
Amino Acid ◽  
Newborn Screening ◽  
Inborn Error ◽  
High Performance ◽  
Clinical Presentation ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional

Background:Amino acid disorders are a major group of inborn error metabolism (IEM) with variable clinical presentation; its diagnosis constitutes a real challenge in a community with high consanguinity rate and no systematic newborn screening. Objectives: to provide data about amino acid disorders detected in high-risk Iraqi children by using quantitative amino acid fluorescent high performance liquid chromatography (HPLC) analysis. Type of the study: Cross-sectional study. Methods: a descriptive cross sectional study from 1st February to 1st December 2014, at Neurological ward and clinic of the Children Welfare teaching Hospital, in Baghdad - Iraq. Plasma specimens of 500 patients, with clinical suspicion of inborn error of metabolism (IEM) because of unexplained neurological deficits, unexplained developmental delay, recurrent coma and/or Neuro-degeneration,  hair changes and/or lethargy, poor feeding, vomiting and selected cases of autistic spectrum syndrome or with positive screening, were analyzed for amino acids by high performance liquid chromatography (HPLC). The amino acid disorders were confirmed in fifty patients were; clinical data of patients were reported and analyzed statistically. Results: out of 500 patients visiting the neurological outpatient and ward, clinical and neurological finding were recorded as well as the family history and/or other symptoms suggestive of aminoacidopathy, Sixty patients were confirmed their diagnosis as amino acid disorders, ten patients were excluded because they lost the follow up or  there is no solid base for a causal relationship between detected abnormal amino acids and neurological disorders, therefore only 50 patients were   enrolled in the study. Patients with Phenylketonuria were the most frequent 24 (48%), homocystinuria 14 (28%), maple syrup urine disease 9 (18%) & other amino acid disorder, (Citrullinemia, non-ketotic hyperglycinemia & Tyrosinemia) 1for each disorder (2%). Considerable delay in diagnosis was noticed which lead to variable neurological abnormalities  in most patients and the psychomotor delay was the main clinical presentation at time of diagnosis 34 (68%). Conclusion: in the absence of newborn screening, the majority of Aminoacidopathies cases was still diagnosed clinically, but delayed. The importance of clinical awareness and accurate biochemical analysis were the key tools for diagnosis and the necessity for a comprehensive national newborn screening program.   

scholarly journals Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up

2007 ◽  
Vol 86 (3) ◽  
pp. 329-337 ◽  
Author(s):  
Kristina Teär Fahnehjelm ◽  
Gerd Holmström ◽  
Liu Ying ◽  
Charlotte Bieneck Haglind ◽  
Anna Nordenström ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Long Term Follow Up ◽  
Hydroxyacyl Coa Dehydrogenase ◽  
Long Chain

scholarly journals Triagem neonatal para fenilcetonúria e hiperfenilalaninemia permanente: a base de dados do IJC de 2010 a 2015 / Neonatal screening for phenylketonuria and permanent hyperphenylalaninemia: the database of IJC from 2010 to 2015

2021 ◽  
Author(s):  
Alline Coiado ◽  
Marina Sampaio ◽  
Thais Tellini ◽  
Sônia Marchezi Hadachi ◽  
Lene Garcia Barbosa
Keyword(s):  
Newborn Screening ◽  
Cross Sectional Study ◽  
First Year ◽  
Screening Methods ◽  
Sectional Study ◽  
Cross Sectional ◽  
Female Population ◽  
Reference Service ◽  
First Year Of Life

  Objetivo: A fenilcetonúria é uma das principais causas de deficiência intelectual, e possui tratamento eficaz, se realizado o diagnóstico e tratamento de forma precoce e um acompanhamento por toda vida. O objetivo deste trabalho é levantar a prevalência de recém-nascidos portadores de fenilcetonúria identificados pela triagem neonatal. Métodos: Estudo transversal no qual foi feito um levantamento de dados sobre triagem neonatal para doença fenilcetonúria realizada num Serviço de Referência de Triagem Neonatal, no período de 1 de janeiro de 2010 a 31 de dezembro de 2015. Resultados: Foi encontrado no período de 5 anos, uma prevalência aproximada de fenilcetonúria de 1: 14.700 e de hiperfenilalaninemia permanente é de 1: 54.500 nascidos vivos. Por meio dos resultados obtidos é possível demonstrar a relevância das recoletas e do seguimento no primeiro ano de vida e de amostras alteradas, assim como a gravidade da população feminina portadora de fenilcetonúria e hiperfenilalaninemia benigna, enfatizando o aumento de possíveis danos cerebrais na fase gestacional. Conclusão: A prevalência de fenilcetonúria e  hiperfenilalaninemia permanente é alta. As recoletas e o seguimento no primeiro ano de vida das amostras alteradas é de extrema importância, principalmente para a população feminina portadora de fenilcetonúria e hiperfenilalaninemia permanente, enfatizando o aumento de possíveis danos cerebrais na fase gestacional. Palavras chave: Fenilcetonúrias, Fenilalanina, Triagem neonatal ABSTRACT: Abstract Phenylketonuria is one of the main causes of intellectual disability, and it has effective treatment, if the diagnosis and treatment is performed early and a lifelong follow-up. The objective of this study is to determine the prevalence of newborns with phenylketonuria identified by newborn screening.  Methods: A cross-sectional study was carried out in which a data collection on newborn screening for phenylketonuria disease was carried out at the Newborn Screening Reference Service from January 1, 2010 to December 31, 2015.  Results: It was found in a 5-year period, an approximate prevalence of phenylketonuria of 1: 14,700 and permanent hyperphenylalaninemia is 1: 54,500 newborns. By means of the obtained results, it is possible to demonstrate the relevance of the recollects and the follow-up in the first year of life and of altered samples, as well as the severity of the female population with phenylketonuria and permanent hyperphenylalaninemia, emphasizing the increase of possible brain damages in the gestational phase. Conclusion: The prevalence of phenylketonuria and permanent hyperphenylalaninemia is high. Recollect and follow-up in the first year of life of the altered samples is extremely important, especially for the female population with phenylketonuria and permanent hyperphenylalaninemia, emphasizing the increase of possible brain damage in the gestational phase.  Keywords: Phenylketonurias. Phenylalanine, Newborn screening    

scholarly journals Sickle cell disease in Nigerian children: A cross-sectional study on parental awareness and home management of pain

2021 ◽  
Vol 2 (1) ◽  
Author(s):  
Oyetundun Fausat Afolabi ◽  
Sabastine Ndubisi Esomonu
Keyword(s):  
Pain Relief ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Maternal Education ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cell Disease ◽  
Cross Sectional ◽  
Parental Awareness ◽  
Significant Difference

Pain, being the clinical trademark of Sickle Cell Disease (SCD), impacts negatively on clinical outcome in children. However, little is known regarding parental home pain management in children with SCD. We aimed to determine the parental awareness, use and perceived efficacy of pain relief techniques for children with SCD. This is a cross-sectional study involving 80 parents of children with SCD seen at General Hospital, Bwari, North-Central Nigeria. An interview-based, structured questionnaire was used to obtain information on socio-demographic characteristics, clinical history, parental awareness, use and perceived effectiveness of pain relief techniques. Data analysis was with SPSS version 20. Seventy-six (95.0%) respondents were aware of available pain relief technique(s) in SCD. Fifty-four (67.5%) respondents used pain relief techniques, 33 (61.1%) of whom used multiple pain relief techniques. The most commonly used drugs and Complementary and Alternative Medicine (CAM) were nonsteroidal anti-inflammatory drugs (47.0%) and massage (36.0%) respectively. Thirty-three (61.1%) respondents perceived their selected techniques as effective. A higher proportion (27.3%) of the children with multiple hospitalizations used multiple pain relief techniques when compared with 4.8% who used drugs alone (p=0.038). However, there was no significant difference based on age, gender, maternal education, genotype, age at diagnosis, pain episodes, regularity of routine drugs and packed cell volume of the children and pain relief techniques used (p>0.05). This study found high parental awareness and utilization of home pain relief techniques for children with SCD. The use of multiple pain relief techniques was influenced by multiple hospitalizations of the children.

Seizure following acute hemolysis caused by Glucose-6-phosphate dehydrogenase Deficiency

2019 ◽  
Author(s):  
Bahram Darbandi ◽  
Simin Sajudi ◽  
Vahid Aminzadeh ◽  
Kioomars Golshekan ◽  
Afagh Hassanzadeh Rad ◽  
...  
Keyword(s):  
Drinking Water ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Statistical Significance ◽  
Cross Sectional Study ◽  
P Value ◽  
Cross Sectional ◽  
Exact Test ◽  
History Of ◽  
Glucose 6 Phosphate Dehydrogenase

Background: Storage of platelet concentrates (PCs) at room temperature (20-24°C) limits its storage time to 5 Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited enzyme deficiency of the human red blood cells . Most of G6PD deficient individuals are asymptomatic, but acute hemolytic anemia may be presented with nausea, vomiting, abdominal pain, headache, jaundice, pallor, discoloration of the urine, chills, and fever. Seizure is reported as a rare symptom, as well. The present study aimed to investigate seizure following acute hemolysis caused by Glucose-6-phosphate dehydrogenase deficiency. Material and Methods:  This analytic cross-sectional study was conducted on all consecutive patients aged 1-12 years with G6PD deficiency hospitalized for hemolysis in 17 Shahrivar children hospital, Rasht, Iran, in 2016. Demographic characteristics and other variables such as place of inhabitants, type of drinking water, history of seizure in the patients and family, cause of hemolysis, hemoglobin level and hemoglobinuria on admission, and infection history prior to hemolysis were recorded. Data were analyzed by Mann-Whitney U test and Fischer Exact Test.  P-value < 0.05 indicated statistical significance and data were assessed by SPSS (version 20). Results:  The youngest patient was one year old and the oldest was 11 years old. Most of them were males (68.9%). Out of 244 patients, 8 ones (3.3%) experienced seizure. There was a significant correlation between seizure occurrence and family history of seizure (p=0.03) as well as fava bean consumption (p=0.019) as the causes of hemolysis; but not with infection as the cause of hemolysis, hemoglobin or hemoglobinuria level on admission, types of drinking water, place of living, and gender. Methemoglobinemia was considered as the main cause of the seizure. Conclusion: Although the rate of seizure was not so high (3.3%), it seems that seizure can be a critical and potentially life-threatening complication in these patients. Environmental factors may also play a role in the pathogenesis of the seizure in these patients.

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