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1.
Turk J Med Sci ; 54(4): 710-717, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39295611

RESUMEN

Background/aim: Tandem mass spectrometry is helpful in diagnosing amino acid metabolism disorders, organic acidemias, and fatty acid oxidation disorders and can provide rapid and accurate diagnosis for inborn errors of metabolism. The aim of this study was to predict inborn errors of metabolism in children with the help of artificial neural networks using tandem mass spectrometry data. Materials and methods: Forty-seven and 13 parameters of tandem mass spectrometry datasets obtained from 2938 different patients were respectively taken into account to train and test the artificial neural networks. Different artificial neural network models were established to obtain better prediction performances. The obtained results were compared with each other for fair comparisons. Results: The best results were obtained by using the rectified linear unit activation function. One, two, and three hidden layers were considered for artificial neural network models established with both 47 and 13 parameters. The sensitivity of model B2 for definitive inherited metabolic disorders was found to be 80%. The accuracy rates of model A3 and model B2 are 99.3% and 99.2%, respectively. The area under the curve value of model A3 was 0.87, while that of model B2 was 0.90. Conclusion: The results showed that the proposed artificial neural networks are capable of predicting inborn errors of metabolism very accurately. Therefore, developing new technologies to identify and predict inborn errors of metabolism will be very useful.


Asunto(s)
Errores Innatos del Metabolismo , Redes Neurales de la Computación , Espectrometría de Masas en Tándem , Humanos , Espectrometría de Masas en Tándem/métodos , Errores Innatos del Metabolismo/diagnóstico , Niño
2.
J Pediatr Hematol Oncol ; 41(1): e54-e56, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-29620684

RESUMEN

BACKGROUND: Disorders of intracellular cobalamin (Cbl) metabolism are classified from A to J according to biochemical phenotype, and genetic and complementation analyses. CblD-deficient patients present with developmental, hematologic, neurologic, and metabolic findings. CLINICAL OBSERVATION: An 11-year-old boy presented with neutropenia, increased mean corpuscular volume, psychomotor retardation, and seizures. His plasma total homocysteine and urinary methylmalonic acid levels were elevated, and a homozygous nonsense mutation [p. R250X (c.748C>T] leading to premature termination of translation was identified in the MMADHC gene, which was compatible with CblD defect. CONCLUSION: In the presence of increased mean corpuscular volume and other hematologic manifestations, such as leukopenia, thrombocytopenia, and megaloblastic anemia, with severe nonspecific or mild neurologic symptoms, Cbl synthesis defects should be considered.


Asunto(s)
Índices de Eritrocitos , Proteínas de Transporte de Membrana Mitocondrial/genética , Neutropenia , Trastornos Psicomotores , Deficiencia de Vitamina B 12 , Niño , Humanos , Péptidos y Proteínas de Señalización Intracelular , Masculino , Proteínas de Transporte de Membrana Mitocondrial/sangre , Neutropenia/sangre , Neutropenia/genética , Trastornos Psicomotores/sangre , Trastornos Psicomotores/genética , Deficiencia de Vitamina B 12/sangre , Deficiencia de Vitamina B 12/genética
3.
J Pediatr Hematol Oncol ; 40(1): e45-e49, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-28267090

RESUMEN

BACKGROUND: Isolated hemolysis or hemolytic anemia and 5-oxoprolinuria are 2 distinct medical conditions in the clinical spectrum associated with glutathione synthetase deficiency. CLINICAL OBSERVATION: A 1-day-old female baby presented with anemia and respiratory distress. Her hemoglobin level was 9.5 g/dL and the total serum bilirubin level was 5.6 mg/dL. Metabolic acidosis was detected in her blood gas analysis. Metabolic acidosis recurred despite treatment and further investigation was required. Her 5-oxoproline level was 3815 mmol/mol creatinine in urine organic acid analysis, and a homozygous mutation [p.R125H (c.374G>A)] was found in the glutathione synthetase gene. CONCLUSIONS: GSD has been observed in very few patients and is rarely considered in the differential diagnosis of hemolytic anemia in newborns.


Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Anemia Hemolítica/etiología , Glutatión Sintasa/deficiencia , Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Errores Innatos del Metabolismo de los Aminoácidos/genética , Anemia Hemolítica/genética , Anemia Hemolítica Congénita/etiología , Anemia Hemolítica Congénita/genética , Diagnóstico Diferencial , Femenino , Glutatión Sintasa/genética , Humanos , Recién Nacido , Enfermedades del Recién Nacido/diagnóstico , Enfermedades del Recién Nacido/genética , Mutación
4.
Transfus Apher Sci ; 54(2): 282-8, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26577019

RESUMEN

Lipoprotein apheresis is used to treat patients with familial hypercholesterolemia (FH). The aim of the present study is to clarify the lipoprotein apheresis procedure performed by cascade filtration (CF) or double filtration plasmapheresis (DFPP) on pediatric patients in terms of side effects, laboratory results and cardiovascular follow-up. Data of ten pediatric patients were analyzed retrospectively. The average age of the patients was 12.1 ± 3.4 years. Percentage of long term reduction of low density lipoprotein cholesterol was 62.35 ± 7.19% (n = 3) for CF and 63.66 ± 6.63% (n = 3) for CF plus DFPP, 64.79 ± 8.29% (n = 7) for DFPP. Cardiovascular disease was not detected in thirty percent of the patients. Lesions remained stable in fifty percent of patients with heart valve lesions. Valvular lesions worsened in twenty percent of patients. Lipoprotein apheresis can be used effectively and successfully in pediatric patients as well as adults for homozygous FH.


Asunto(s)
Eliminación de Componentes Sanguíneos/métodos , LDL-Colesterol/sangre , Hiperlipoproteinemia Tipo II/sangre , Hiperlipoproteinemia Tipo II/terapia , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino
5.
J Clin Res Pediatr Endocrinol ; 12(4): 427-431, 2020 11 25.
Artículo en Inglés | MEDLINE | ID: mdl-31914726

RESUMEN

Abetalipoproteinaemia (ABL) is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride (TG). It results from mutations in the gene encoding microsomal TG transfer protein (MTTP). A nine-month-old girl was admitted to hospital because of fever, cough, diarrhea and failure to thrive. She had low cholesterol and TG levels according to her age. The peripheral blood smear revealed acanthocytosis. Thyroid function test showed central hypothyroidism. Cranial magnetic resonance imaging revealed the retardation of myelination and pituitary gland height was 1.7 mm. A homozygous novel mutation [c.506A>T (p.D169V)] was detected in the MTTP gene. Vitamins A, D, E, and K and levothyroxine were started. The coexistence of ABL and central hypothyroidism has not previously been reported. A homozygous novel mutation [c.506A>T (p.D169V)] was detected in the MTTP gene.


Asunto(s)
Abetalipoproteinemia/patología , Proteínas Portadoras/genética , Hipotiroidismo/patología , Mutación , Abetalipoproteinemia/complicaciones , Abetalipoproteinemia/genética , Femenino , Humanos , Hipotiroidismo/complicaciones , Hipotiroidismo/genética , Lactante , Pronóstico
6.
Iran J Kidney Dis ; 13(1): 71-72, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30851722

RESUMEN

A 6-year-old Syrian boy presented with complaints of facial dysmorphism and difficulty of walking. He had coarse face, macrocephaly, pectus carinatum, x-bain deformity, kyphosis, corneal clouding, and claw hand deformity. Galactose-6 sulphatase enzyme level was 0.1 nmol/mg.17 h (reference range, > 68 nmol/mg.17 h), compatible with Morquio syndrome. On laboratory examinations, potassium level was 2.9 mmol/L (reference range, 3.5 mmol/L to 5.1 mmol/L), sodium level was 130 mmol/L (reference range, 135 mmol/L to 148 mmol/L), and chloride level was 92 mmol/L (reference range, 101 mmol/L to 109 mmol/L). Blood pH was 7.5 and bicarbonate level was 31 mEq/L. Urine sodium and chloride levels were high. Arterial blood pressure was normal and these findings were consistent with Bartter syndrome. This is the first report of a patient with the association of Bartter syndrome and mucopolysaccharidosis type 4A, which was thought to be coincidental.


Asunto(s)
Síndrome de Bartter/complicaciones , Mucopolisacaridosis IV/complicaciones , Síndrome de Bartter/diagnóstico , Niño , Humanos , Masculino , Mucopolisacaridosis IV/diagnóstico
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