925 resultados para Infant choirs
Resumo:
Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five month old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished and had axial hypotony and developmental delay, an irregular pattern of hypopigmentation on the right side of the abdomen, and moderate sagittal body asymmetry with left-side muscular hemihypotrophy.Mild craniofacial dysmorphy included dolichocephaly, frontal bossing, prominent occiput, long downslanting palpebral fissures, hypertelorism, and retrognathia. A complex heart defect with atrial and ventricular septal defects, pulmonary artery stenosis, and bicuspid aortic valve was identified. Cytogenetic analysis revealedmosaic trisomy 18with trisomy in 90%of peripheral lymphocytes and 17%of skin fibroblasts.This case adds to our knowledge of the phenotypic spectrum and the natural history of mosaic trisomy 18 by adding a dysmorphic feature and a cardiac abnormality that, to the best of our knowledge, had not been previously described.
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Vitamin B 12 or cobalamin deficiency, a rare clinical entity in pediatric age, is found most exclusively in breastfed infants, whose mothers are strictly vegetarian non-supplemented or with pernicious anaemia. In this article, the authors describe a 10-month-old infant admitted for vomiting, refusal to eat and prostration. The infant was exclusively breastfed and diffi culties in introduction of new foods were reported. Failure to thrive since 5 months of age was also noticed. Laboratory evaluation revealed severe normocytic normochromic anaemia and cobalamin defi cit. A diagnosis of α-thalassemia trait was also made. Maternal investigation showed autoimmune pernicious anaemia. This case shows the severity of vitamin B 12 deficiency and the importance of adopting adequate and precocious measures in order to prevent potentially irreversible neurologic damage.
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Toxoplasma gondii transmission via breastfeeding has been discussed; however, no cases have been confirmed to date. This article describes a case of acute toxoplasmosis diagnosed in a mother and her six-month-old breastfed infant. The study accounts for the possibility of breast milk transmission and directs both clinicians and pediatricians to the hypothesis that both patients acquired toxoplasmosis via water ingestion.
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Although the standard of care for cow’s milk (CM) allergy is strict food avoidance, oral immunotherapy (OIT) is being widely investigated as an alternative management option in certain cases. Immediate adverse reactions to OIT have been described, but its long-term effects are much less often reported. We present the case of a girl diagnosed with IgE-mediated CM allergy that was proposed for our CM OIT protocol at the age of 3 years. The first sessions (dose escalation up to 5 ml) were well tolerated, however eight hours after her daily morning dose of 5ml CM the child developed late episodes of vomiting. No other symptoms, particularly immediately after CM ingestion, were reported. These episodes became progressively worse and on the third day she presented mild dehydration and blood eosinophilia. After OIT interruption, a progressive clinical improvement was observed. An esophageal endoscopy was performed, showing signs of eosinophilic esophagitis (EoE) with peak 20 eosinophils/hpf. After treatment with topical swallowed fluticasone (500 mcg bid) and a CM-free diet for 4 months, the child was asymptomatic and endoscopy and biopsy findings were normal. The long-term effects of milk OIT are still in part unknown. We hypothesize that eosinophilic esophagitis may have been a consequence of OIT in this case. The findings seem to indicate that food allergy may play a role in the pathogenesis of esophageal eosinophilia and stress the importance of a well programmed long-term follow-up of patients that have undergone milk OIT.
Advanced megaesophagus (Group III) secondary to vector-borne Chagas disease in a 20-month-old infant
Resumo:
The authors report the case of a female infant with Group III (or Grade III) megaesophagus secondary to vector-borne Chagas disease, resulting in severe malnutrition that reversed after surgery (Heller technique). The infant was then treated with the antiparasitic drug benznidazole, and the infection was cured, as demonstrated serologically and parasitologically. After follow-up of several years without evidence of disease, with satisfactory weight and height development, the patient had her first child at age 23, in whom serological tests for Chagas disease yielded negative results. Thirty years after the initial examination, the patient's electrocardiogram, echocardiogram, and chest radiography remained normal.
Resumo:
We present a case of a 4.5-month-old boy from Turkey with hemophagocytic lymphohistiocytosis (HLH) associated with H1N1 virus and Leishmania spp. coinfection. Because visceral leishmaniasis can mimic hematologic disorders like HLH, it is important to rule out this clinical condition before starting immunosuppressive therapy. In our case, treatment with liposomal amphotericin B resulted in a dramatic resolution of clinical and laboratory abnormalities.
Resumo:
We report the case of a one-day-old newborn infant, female, birth weight 1900 g, gestational age 36 weeks presenting with necrotizing fasciitis caused by E. coli and Morganella morganii. The newborn was allowed to fall into the toilet bowl during a domestic delivery. The initial lesion was observed at 24 hours of life on the left leg at the site of the venipuncture for the administration of hypertonic glucose solution. Despite early treatment, a rapid progression occurred resulting in a fatal outcome. We call attention to the risk presented by this serious complication in newborns with a contaminated delivery, and highlight the site of the lesion and causal agents.
Resumo:
Childhood non-Hodgkin's lymphomas, including Burkitt and Burkitt-like, are rarely diagnosed in infants. A case of B-cell lymphoma in a 13-month-old girl with extensive abdominal disease, ascites, pleural effusion, and tumor lysis syndrome is reported. Phenotypic analysis showed a germinal center B-cell phenotype, and a B-cell clonality was confirmed by polymerase chain reaction. There was no evidence of Epstein-Barr and HIV infection. The case herein reported emphasizes the need for considering the diagnosis of lymphoma even in very young children.
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Necrotizing enterocolitis is a disease of the newborn that may involve the small intestine and/or the colon, and the stomach. To our knowledge, massive necrosis of the small intestine with concomitant involvement of the esophagus has never been reported. A case of a 6-month-old boy with necrotizing enterocolitis and pan-necrosis of the small intestine, cecum, and the lower third of the esophagus is presented. After 70 days of treatment, intestinal transit was established by an anastomosis between the first centimeter of jejunum and the ascending colon. Finally, esophageal transit was established by a total gastric transposition with cervical esophagogastric anastomosis. The patient was maintained under total parenteral nutrition, and after 19 months he developed fulminant hepatic failure due to parenteral nutrition; he then underwent combined liver and small bowel transplantation. After 2 months, the patient died due to undefined neurologic complications, probably related to infection or immunosuppressive therapy.
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Multiple arterial anomalies characterized by tortuosity and rolling of the pulmonary arteries and aorta were diagnosed on echocardiography in an asymptomatic newborn infant with a phenotype suggesting Ehlers-Danlos syndrome. These changes were later confirmed on angiography, which also showed peripheral vascular abnormalities. The electrocardiogram showed a probable hemiblock of the left anterosuperior branch, and the chest x-ray showed an excavated pulmonary trunk with normal pulmonary flow.
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We report the case of an 8-month-old female infant with Uhl's anomaly, who underwent successful cardiac transplantation. The clinical findings, complementary laboratory tests, anatomic findings, and differential diagnosis of the anomaly are discussed.
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Adverse effects of maternal anxiety and depression are well documented, namely on the foetus/child behaviour and development, but not as much attention has been given to the mother's emotional involvement with the offspring. To study mother's prenatal and postpartum stress, mood and emotional involvement with the infant, the State-Trait Anxiety Inventory, the Edinburgh Postnatal Depression Scale and the Mother-to-Infant Bonding Scale were filled in and cortisol levels were measured, 3 months before and 3 months after childbirth, in a sample of 91 Portuguese women. From pregnancy to the postpartum period, mother's cortisol levels, anxiety and emotional involvement toward the child decrease. No significant change was observed regarding mother's depression. Mother's depression predicted a worse emotional involvement before childbirth, while mother's anxiety predicted a worse emotional involvement with the infant after childbirth. Additionally, pregnant women with a worse emotional involvement with the offspring are at risk of poorer emotional involvement with the infant and higher anxiety and depression at 3 months postpartum. It should be given more attention to mother's poor emotional involvement with the offspring during pregnancy, as it interferes with her emotional involvement with the infant and her psychological adjustment 3 months after childbirth.
Resumo:
Objectives. To study mother-to-infant emotional involvement at birth, namely factors (socio-demographics, previous life events, type of delivery, pain at childbirth, support from partner, infant characteristics, early experiences with the newborn, and mother’s mood) that interfere with the mother’s positive, negative and not clear emotions toward the newborn. Methods. The Bonding Scale (an extended Portuguese version of the ‘New Mother-to-Infant Bonding Scale’) and the Edinburgh Postnatal Depression Scale were administrated during the first after delivery days to 315 mothers recruited at Ju´lio Dinis Maternity Hospital (MJD, Porto, Portugal). Results. A worse emotional involvement with the newborn was observed when the mother was unemployed, unmarried, had less than grade 9, previous obstetrical/psychological problems or was depressed, as well as when the infant was female, had neonatal problems or was admitted in the intensive care unit. Lower total bonding results were significantly predicted when the mother was depressed and had a lower educational level; being depressed, unemployed and single predicted more negative emotions toward the infant as well. No significant differences in the mother-to-infant emotional involvement were obtained for events related to childbirth, such as type of delivery, pain and partner support, or early experiences with the newborn; these events do not predict mother’s bonding results either. Conclusion. The study results support the need for screening and supporting depressed, unemployed and single mothers, in order to prevent bonding difficulties with the newborn at birth.
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Noting that maternal depression is common during a baby's first year, this study examined the interaction of depressed and non-depressed mother-child dyads. A sample of 26 first-time mothers with postpartum depression at the third month after birth and their 3-month-old infants was compared to a sample of 25 first-time mothers with no postpartum depression at the third month after birth and their 3-month-old infants. The observations were repeated at 6 months and again at 12 months postpartum. The samples were compared for differences in mother interaction behavior, mother's infant care, mother's concern with the baby, infant behavioral difficulties, infant mental and motor development, and infant behavior with the observer. Among the findings are the following: (1) depressed mothers' interaction behavior and care of their infants are less adequate than the non-depressed mothers' interaction behavior and care of their infants at 3, 6, and 12 months postpartum; (2) infants' interaction behaviors during feeding and face-to-face interaction with depressed mothers are less adequate than infants' interactions with non-depressed mothers at 3, 6, and 12 months postpartum; (3) mother-infant interactions are less adequate in the depressed mother dyads than the non-depressed dyads at 3, 6, and 12 months postpartum; (4) depressed mothers are less concerned about their infants than non-depressed mothers at 3, 6, and 12 months postpartum; (5) infants of depressed mothers have more behavioral difficulties at 3, 6, and 12 months postpartum than infants of non-depressed mothers; (6) infants of depressed mothers had lower mental and motor development rates at 6 and 12 months postpartum than infants of non-depressed mothers; and (7) infants of non-depressed mothers behaved in a more positive way with the observer than the infants of depressed mothers. (AS)
Resumo:
We describe the case of a 40-day-old female patient with a history of breathlessness since birth who was referred to our hospital for surgical correction of common arterial trunk. The invasive investigation disclosed a Fallot¢s tetralogy anatomy associated with an anomalous origin of the left pulmonary artery from the ascending aorta. Immediately after diagnosis, the patient underwent a successful total surgical correction of the defect, including simultaneous anastomosis of the left pulmonary artery to the pulmonary trunk.