RESUMEN
This article reports the case of newborn with multiple dimorphisms (microcephaly, hypertelorism, wide and flat nasal bridge, small nose, long philtrum, microretrognathia, malformed and low-set ears, short neck, redundant nuchal skin, genital anomalies), admitted in the hospital after two days from delivery for torpor, poor food and cyanosis. Babies were affected, at color-Doppler echocardiography, by coarctation of the aorta (CoA) with aortic arch hypoplasia. CoA is often associated to genetic and environmental factors that interact frequently. In this study the anamnestic absence of teratogen noxae and the presence of facial and genital anomalies suggest a genetic study to provide appropriate genetic information to parents. G-banding chromosomic analysis revealed a 46, XX der 4t(4;11) karyotype with partial 11q trisomy confirmed with FISH chromosome painting 4;11 and with FISH subtelomere specific 4(p/q)11(p/q). These techniques showed that derivative chromosome 4 was constituted by chromosome 4 with partial deletion in the q35 region and by 11q21 translocation. This rare anomaly is often inherited by an unbalanced segregation of a balanced translocation, present in one of the two parents. In the present study, the father carried a t(4q;11q) balanced translocation. A CGH-array analysis was executed to the child for the breakpoints definition. As 11q trisomy cases reported in literature are still few, this case can contribute to improve our knowledge on the genotype-phenotype correlation in this rare genetic anomaly.
Asunto(s)
Aorta Torácica/anomalías , Coartación Aórtica/complicaciones , Deleción Cromosómica , Coartación Aórtica/genética , Cromosomas Humanos Par 11 , Femenino , Humanos , Recién Nacido , Fenotipo , TrisomíaRESUMEN
Pachygyria is a malformation of the cerebral cortex characterized by an insufficient development of the gyri and cerebral sulci within the anomalies of neuronal migration. Clinically, can cause seizures, mental retardation and motor deficits. We report a rare clinical case of pachygyria in a newborn with persistent hypotonia and sub-clinical seizures in which early diagnosis was possible thanks to cranial magnetic resonance imaging.
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Encéfalo/patología , Lisencefalia/diagnóstico , Imagen por Resonancia Magnética , Encéfalo/fisiopatología , Electroencefalografía , Humanos , Recién Nacido , Lisencefalia/complicaciones , Lisencefalia/patología , Lisencefalia/fisiopatología , Masculino , Hipotonía Muscular/etiología , Convulsiones/etiologíaRESUMEN
Fetus damages due to alcohol abuse in pregnancy, fetal alcohol syndrome (FAS), are widely documented in the literature, whereas short and long term clinical signs of acute alcohol intoxication in newborn babies are poorly described. In our study we describe the case of a 30-day-old newborn baby erroneously fed with 70 mL of white wine in place of the water for milk dilution. The baby clinical features were torpor, tremors, slight fever without metabolic anomalies typical of classic acute alcohol intoxication such as hypoglycemia, hypothermia, metabolic acidosis and coma. Periodical follow-up a 2, 3, 6 and 12 months were performed in order to evaluate neuromotor development using Bayley Scales of Infant Development II, for children between 1 and 42 months old. The results showed normal psychomotor development in our patient.
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Intoxicación Alcohólica/diagnóstico , Etanol/envenenamiento , Acidosis/etiología , Intoxicación Alcohólica/complicaciones , Intoxicación Alcohólica/etiología , Intoxicación Alcohólica/psicología , Intoxicación Alcohólica/terapia , Desarrollo Infantil/efectos de los fármacos , Coma/etiología , Femenino , Humanos , Hipoglucemia/etiología , Hipotermia/etiología , Recién Nacido , Pruebas Neuropsicológicas , PsicometríaRESUMEN
The authors report the clinical case of a newborn affected by congenital varicella syndrome, occurred about the 12th gestational week, with ophthalmic involvement. The ocular anomalies consisted in right microphthalmia, with lens opacities and atrophic chorioretinitis, without any involvement of other pathologies. The ophthalmic lesions and the sierological data confirmed that the infection occurred during the first weeks of gestation. Although the manifestation limited to the eyes is extremely rare, the authors point out the necessity of an appropriate prevention to avoid irreversible involvements of important organs.
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Varicela/congénito , Varicela/complicaciones , Humanos , Recién Nacido , Masculino , Microftalmía/virologíaRESUMEN
AIM: To evaluate the possible effects of recombinant growth hormone (rhGH) therapy on mineral homeostasis and bone turnover, the authors studied calcium-phosphate metabolism parameters, including some bone markers, in 2 prepubertal subjects with Noonan's syndrome (NS). METHODS: Two prepubertal males suffering from NS, short stature (-3.9 and -5.4 SDS respectively) and low growth velocity (3.9 and 3.3 cm/year), were treated with rhGH (0.85 U/kg/week) for 1 year. Serum levels of total calcium (Ca), inorganic phosphate (P), magnesium (Mg), parathyroid hormone (PTH), calcitonin (CT), 25OH vitamin D, 1.25(OH)(2)D, osteocalcin (BGP), type I procollagen carboxy-terminal propeptide (PICP) and its telopeptide (ICTP) were measured. RESULTS: The baseline values were in the normal range; during the treatment no remarkable difference in the values of every one parameters was detected in the 2 patients studied. In one of them, who responded to GH treatment with significantly improved growth velocity, serum levels of the BGP increased during the first semester, and then progressively declined; conversely, serum levels of the ICTP remained stable during the first 6 months of GH-therapy, whereas increased in the following 6 months. CONCLUSION: The results suggest that in Noonan's syndrome patients responding to GH-therapy, a stimulation of bone turnover, with ensuing increase of height velocity, takes place, at least during the first year of GH-therapy. The authors underline the necessity of confirming their results on a larger group of patients with Noonan's syndrome.
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Calcio/metabolismo , Hormona del Crecimiento/uso terapéutico , Síndrome de Noonan/tratamiento farmacológico , Síndrome de Noonan/metabolismo , Fósforo/metabolismo , Adolescente , Biomarcadores/sangre , Huesos/efectos de los fármacos , Huesos/metabolismo , Hormona del Crecimiento/farmacología , Humanos , Masculino , Síndrome de Noonan/sangreRESUMEN
The Authors have studied urinary aminoterminal telopeptide of type I collagen (NTx), a bone catabolism marker of recent determination, by an enzyme-linked immunoassorbent assay (OSTEOMARK) in 80 urine samples of term healthy infants in the first 3 months of life. Highly significant variations have been compared in the whole period studied (P = 0.000). Levels of NTx increase significantly from 1 to 7 days of life, reaching a plateau that is kept until 45th day and then significantly decrease until 90th day, when, however, they result higher than the values reported in literature concerning older ages. The Authors conclude that even this bone catabolism marker is influenced, in the first week of life, by the particular phenomenology linked to the neonatal adaptation, and that, subsequently, shows a trend strictly linked to the bone turnover modifications throughout the faster stage of the growth.
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Colágeno Tipo I/orina , Colágeno/orina , Péptidos/orina , Biomarcadores , Ensayo de Inmunoadsorción Enzimática , Femenino , Estado de Salud , Humanos , Lactante , MasculinoRESUMEN
The A.A. performed a screening on 113 patients affected by beta-thalassemia major ranging in age between 2 and 40 years, randomized among those which come to the Microcitemic Center of our Institute, and in a control group. In everybody, serum levels of calcium, phosphate, parathyroid hormone (PTH), calcitonin and 25-OH vitamin D were measured. Average serum levels of PTH were significantly (P < 0.001) lower in patients than controls and 12.4% of them were clearly under normal range, especially in the group above 16 years of age. Also serum levels of 25-OH vitamin D were lower in thalassemic subjects than in controls, because of the presence of 32 patients with values under normal limit. Our results are in agreement with current literature that underline the increasing incidence of endocrine complications in thalassemic patients which undergo to high transfusion regimens, owing to the increase of emosiderosis due to the low compliance to iron chelation therapy. Controversial is the pathogenesis of the absence of hypocalcemia in many patients with hypoparathyroidism and the determinism of the deficit of vitamin D.
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Huesos/metabolismo , Talasemia/metabolismo , Adolescente , Adulto , Biomarcadores , Niño , Preescolar , Humanos , Talasemia/sangre , Talasemia/tratamiento farmacológicoRESUMEN
The AA. performed a screening test on 113 patients affected by beta thalassemia major ranging between 2 and 40 years of age, randomized among those who come to the Microcitemic Center of our Institute, and on a control group. In all of them serum levels of calcium, phosphate, parathyroid hormone (PTH), calcitonin and 25-OH vitamin D were measured. Average serum levels of PTH were significantly (P < 0.001) lower in our patients than in control group and 12.4% of the former were clearly under normal range, especially in the group over 16 years of age. Also serum levels of 25-OH vitamin D were lower in thalassemic patients than in controls, because of the presence of 32 patients with average values under normal limit. Our results are in agreement with current literature and underline the increasing incidence of endocrine complications in thalassemic patients who undergo high transfusion regimens, because of to the increase of hemosiderosis due to the low compliance to iron chelation therapy. Controversial is the pathogenesis of the absence of hypocalcemia in many patients with hypoparathyroidism and the cause of the deficit of vitamin D.
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Fosfatos de Calcio/sangre , Talasemia beta/sangre , Adolescente , Adulto , Envejecimiento/sangre , Calcitonina/sangre , Calcitriol/sangre , Calcio/sangre , Niño , Preescolar , Humanos , Lactante , Hormona Paratiroidea/sangre , Fosfatos/sangre , Vitamina DRESUMEN
Serum levels of carboxyterminal telopeptide of type I collagen (ICTP), a marker of matrix degradation, were measured by RIA test, on 184 samples of healthy newborns and children aging from 1 (cord blood) to 90 days of life. We found ICTP values about tenfold higher than the adults', with highly significant variations (P < 0.001) in the whole period studied. During the first three months of life serum levels of the bone marker show a progressive increase from 0 to 7 days, they remain unchanged until the 30th day and then decrease until the 45th day, maintaining similar values from the 45th to the 90th day of life. The authors think that the pattern of ICTP in the first week of life is under the influence of the adapting phenomena following delivery, in which catabolic processes are predominant, while in the second period ICTP modifications are related to growing processes and then to bone turnover.
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Envejecimiento/sangre , Colágeno/sangre , Péptidos/sangre , Análisis de Varianza , Biomarcadores/sangre , Femenino , Crecimiento/fisiología , Humanos , Lactante , Recién Nacido , Masculino , Métodos , Valores de ReferenciaRESUMEN
BACKGROUND: Bone metabolism may be disturbed in children with celiac disease. METHODS: Two markers of bone turnover were used: the level of osteocalcin (BGP) and the level of carboxylterminal peptide of type I procollagen (PICP). BGP and PICP were measured by radioimmunoassays in 18 untreated children with celiac disease (mean age: 22.9 +/- 15.6 months) and in 15 control subjects (mean age 28.5 +/- 21 months). All the patients were rechecked after 1 month and again after 3 months from beginning of a gluten-free diet (GFD). RESULTS: Compared with controls at diagnosis our patients had significantly lower serum levels of BGP and PICP (p = 0.003 and p = 0.018 by Student's t test, respectively). These levels increased markedly during the 1st 3 months of GFD. CONCLUSIONS: The alteration in calcium phosphate homeostasis caused by celiac disease directly affects the synthesis of both components of the connective matrix of bone. Measurements of BGP and PICP provide a reliable and rapidly obtainable index of normalization of the processes of bone growth which can be achieved with a GFD.
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Huesos/metabolismo , Enfermedad Celíaca/sangre , Osteocalcina/sangre , Fragmentos de Péptidos/sangre , Procolágeno/sangre , Análisis de Varianza , Biomarcadores/sangre , Calcio/sangre , Enfermedad Celíaca/dietoterapia , Niño , Preescolar , Humanos , Lactante , Osteocalcina/metabolismo , Fragmentos de Péptidos/metabolismo , Fosfatos/sangre , Procolágeno/metabolismo , Valores de Referencia , Factores de TiempoRESUMEN
The Authors studied the changes of the main parameters of calcium-phosphate metabolism in twenty four untreated celiac children (mean age: 23.7 +/- 14.4 months) and in eleven control subjects (mean age: 28.5 +/- 21.2 months). 16 patients were checked again one and three months after treatment was begun. Compared with controls patients show at diagnosis a significant increase of serum phosphate (P = 0.025) and a decrease of calcitonin levels (P = 0.02), whereas serum calcium is slightly lower and parathyroid hormone higher with serum levels above normal range in 5 of the coeliac patients (20.8%). During the three months of gluten free diet we find a significant increase of calcemia values (ANOVA: P = 0.025) together with a decrease of serum phosphate (ANOVA: P = 0.009) and of parathyroid hormone levels (ANOVA: P = 0.042). No significant change was found in vitamin D metabolites levels. The Authors conclude that coeliac disease affect clearly mineral metabolism. Actually the tendency to hypocalcemia, due to abnormalities of the intestinal mucosa, and the comparative iperphosphatemia, cause in some patients a compensatory increase of PTH levels. This increase seems to be the cause of the osteoporotic lesions described in current literature. Rickets due to the lack of vitamin D does not occur.
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Calcio/metabolismo , Enfermedad Celíaca/metabolismo , Fósforo/metabolismo , Análisis de Varianza , Calcitonina/sangre , Calcio/sangre , Enfermedad Celíaca/sangre , Enfermedad Celíaca/dietoterapia , Niño , Preescolar , Humanos , Ensayo Inmunorradiométrico , Lactante , Magnesio/sangre , Hormona Paratiroidea/sangre , Fosfatos/sangre , Espectrofotometría , Vitamina D/metabolismoRESUMEN
Serum levels of type I procollagen were measured on 118 samples from cord blood or from healthy infants aging from 1 to 90 days of life. Significant variations (P = 0.001) were noticed in the values of the marker in the whole period under investigation. We observed a decrease of PICP from cord blood to the end of the first day of life with a sharp rise on the 5th day lasting until the 30th day which then became stable till the end of the third month. Our results show a peculiar pattern of PICP levels during the first month of life which has to be taken into account to evaluate normal values of the marker in this period of life.
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Sangre Fetal/química , Procolágeno/sangre , Factores de Edad , Envejecimiento , Peso al Nacer , Estatura , Peso Corporal , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Valores de Referencia , Cráneo/anatomía & histologíaRESUMEN
The authors have studied the correlations between serum levels of calcitonin and the degree of oxygenation assessed by means of transcutaneous pO2 and pCO2 and capillary pH in 40 term newborns of adequate birth weight. Highly significant correlations (P < 0.001) were found at the 24th hour of life between calcitonin levels and the asphyxia parametres and between the latter measured at the 12th or the 24th hour and calcitonin levels found respectively at the 24th or the 48th hour. Similar correlations were found subdividing the studied newborns with regard to the type of delivery. We conclude that the severity of neonatal asphyxia is indeed the main determining factor of the magnitude of the calcitonin hyperincretion.