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1.
Ann Saudi Med ; 44(2): 111-115, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38615181

RESUMO

BACKGROUND: Functional constipation (FC) is a common condition in children, and information on the clinical characteristics of FC in Saudi children is scarce. OBJECTIVE: Describe the clinical profile of FC in Saudi children. DESIGN: Retrospective. SETTING: Hospital that provides primary, intermediate and tertiary care. PATIENTS AND METHODS: All children diagnosed with FC according to the Rome IV criteria were included and had at least one follow-up clinic visit. Demographic and clinical data collected from medical records included the age at onset, duration of constipation, clinical features, treatment modalities, and factors associated with clinical response. Descriptive statistics and Pearson's chi-squared test were used in the statistical analysis to see how categorical study variables were linked to clinical response. A P value of ≤.05 was used to report statistical significance. MAIN OUTCOME MEASURE: Compliance and clinical response to polyethylene glycol (PEG) compared with lactulose. SAMPLE SIZE: 370 children from 0.1 to 13 years of age. RESULTS: The median (IQR) age of onset was 4 (5) years and less than one year in 14%. The median (IQR) duration of constipation was 4 months (11) and less than two months in 93/370 (25%). Abdominal pain was the most commonly associated feature (44%). Screening for celiac disease and hypothyroidism was negative. A Fleet enema was the most common disimpaction method (54%) and PEG was the most common maintenance medication (63.4%). PEG was significantly better tolerated (P=.0008) and more effective than lactulose (P<.0001). Compliance was the only variable significantly associated with clinical response. CONCLUSIONS: PEG was better tolerated and more effective than lactulose in our study, a finding in agreement with the literature. Therefore, PEG should be the drug of choice in the initial management of FC in Saudi children. Prospective studies on the causes of noncompliance are needed to improve the response to treatment. LIMITATIONS: The limitations of retrospective design are missing data, recall bias, and hospital-based limitation, such as missing milder cases treated at the outpatient level. However, the sample size of 370 may have minimized these limitations.


Assuntos
Constipação Intestinal , Lactulose , Criança , Humanos , Pré-Escolar , Lactulose/uso terapêutico , Estudos Prospectivos , Estudos Retrospectivos , Arábia Saudita , Constipação Intestinal/diagnóstico , Constipação Intestinal/terapia , Polietilenoglicóis/uso terapêutico
2.
Front Pediatr ; 7: 243, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31275908

RESUMO

We report a Saudi girl who presented at birth with neonatal diabetes, duodenal atresia, and progressive cholestasis. After other gene testing was negative, the clinical diagnosis of Mitchell-Riley syndrome was ultimately considered and further genetic analysis revealed a novel missense homozygous variant in RFX6: c.983A>T (p.asp328Val). Despite intensive management, the patient died from severe Klebsiella pneumoniae sepsis at 5 months of age. This rare syndrome should be suspected in any neonate with hyperglycemia complicated by intestinal atresia and/or progressive cholestasis that could suggest biliary hypoplasia. Early recognition and diagnosis through genetic testing are essential for guiding aggressive clinical management as well as family counseling, particularly in light of the high possibility of early death in this highly complex disorder.

3.
Sudan J Paediatr ; 14(1): 89-100, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-27493396

RESUMO

Accidents still represent a major cause of death and disability in children. The resultant traumatic brain injury (TBI) usually needs a multidisciplinary approach of management. Although computed tomographic (CT) head scan is generally a preferred investigation in TBI, however, clear guidelines are required to help decision making by different team members on "when a head CT scan is needed", its limitations, and "when it is likely to be informative". The answers to these queries are highlighted, in the present article, with other aspects of treatment of children with TBI. This article discusses different worldwide-accepted approaches for managing children with TBI, and places special emphasis on the issue of "indications for a head CT scan".

4.
BMC Res Notes ; 6: 362, 2013 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-24016420

RESUMO

BACKGROUND: Tyrosinemia type 1 (TT1) is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). TT1 usually presents in infancy with features suggestive of liver disease or with sepsis-like symptoms. CASE PRESENTATION: We report two Saudi siblings with TT1. Case 1 was a male infant who presented at 2 months old with fever, vomiting and refusal of feeding. Examination revealed a sick-looking infant with signs of severe dehydration and hypovolemic shock. He was jaundiced, and had hepatomegaly and elevated liver enzymes. Echocardiography was performed in light of a lack of response to inotropes, and revealed biventricular and interventricular septal hypertrophies. The ventricular ejection fraction was 65%. Urine organic acid analysis showed elevated succinylacetone, consistent with a diagnosis of TT1. An FAH gene study identified a c.1 A > G homozygous mutation. This patient responded well to intensive cardiorespiratory therapy, tyrosine-free formula, and oral 2-nitro-4- trifluoromethylbenzyl 1, 3 cyclohexanedione (NTBC). Echocardiographic findings reverted to normal after 4 weeks. Case 2 was the younger brother of Case 1, and was born 6 months after his brother had been confirmed with tyrosinemia. Pregnancy and delivery were uneventful. Serum amino acid and organic acid analyses 4 days after birth confirmed tyrosinemia. DNA analysis identified a c.1 A > G homozygous mutation, as in his brother. Echocardiography was normal. Special formula and NTBC were commenced on day 7 of life. The infant remained asymptomatic after 9 months of follow-up. CONCLUSIONS: These cases highlight TT1 as a treatable cause of cardiomyopathy in children. It also supports the idea that early diagnosis and treatment may prevent the development of cardiomyopathy associated with tyrosinemia.


Assuntos
Cardiomiopatia Hipertrófica/genética , Hidrolases/genética , Mutação , Tirosinemias/genética , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/patologia , Cardiomiopatia Hipertrófica/terapia , Cicloexanonas/uso terapêutico , Alimentos Formulados , Heptanoatos/urina , Homozigoto , Humanos , Hidrolases/deficiência , Lactente , Masculino , Nitrobenzoatos/uso terapêutico , Irmãos , Resultado do Tratamento , Tirosinemias/complicações , Tirosinemias/patologia , Tirosinemias/terapia
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