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Male Infant (male + infant)
Selected AbstractsNon-fatal injuries among Pacific infants in Auckland: Data from the Pacific Islands Families First Two Years of Life studyJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 3 2006Philip J Schluter Aims: Child injury is the leading cause of mortality and morbidity in developed countries. While Pacific infant death rates are relatively high in New Zealand, little is known about non-fatal injury rates. We seek to describe maternally reported injury in Pacific infants aged between 0,24 months. Methods: A cohort of Pacific infants born during 2000 in Auckland, New Zealand, was followed. Maternal home interviews were conducted at 6 weeks, 12 months and 24 months postpartum and injury events were recalled. Marginal models using generalized estimating equations (GEEs) were used to analysis the longitudinal data. Results: The inception cohort included 1398 infants at 6 weeks, 1241 infants at 12 months and 1161 infants at 24 months. The age-specific injury incidence per 1000 person-years exposure was estimated at 48 (95% CI: 23, 88) injuries for infants aged 0,6 weeks, 106 (95% CI: 88, 127) injuries for infants aged 7 weeks,12 months and 174 (95% CI: 151, 199) injuries for infants aged 13,24 months. In the multivariable GEE model, older infants (P < 0.001), infants who were male (P = 0.01), born to Pacific Island fathers and non-Pacific Island mothers (P < 0.001), and in higher or unknown income groups (P = 0.01) were significantly more likely to suffer injury events. No significant two-factor interaction with infant age was identified. Conclusions: Among Pacific infants, non-fatal injury is common and injury incidence rates are considerably higher than national levels. Male infants and those born into ethnically mixed families, where the father was of Pacific Island ethnicity and the mother was non-Pacific, were at increased relative risk of injury and might benefit from specific injury prevention targeting. However, given the high injury incidence levels found, we advocate that investigation and targeting of culturally appropriate prevention strategies for all Pacific families with young children is required to reduce injury rates for Pacific infants in New Zealand. [source] Intrauterine growth standards in a developing country: a study of singleton livebirths at 28,42 weeks' gestationPAEDIATRIC & PERINATAL EPIDEMIOLOGY, Issue 5 2007Khalid A. Yunis Summary This study aimed to develop fetal growth charts for the population of Greater Beirut, Lebanon, and compare them with previously established references. A survey of consecutive singleton livebirths admitted to normal nurseries and neonatal intensive care units of major hospitals, through the database project of the National Collaborative Perinatal Neonatal Network was used as a design. The study was conducted in nine major healthcare institutions serving the population of Beirut and its suburbs. A total of 24 767 singleton livebirths delivered between 28 and 42 weeks' gestation, with known data on gender, gestational age and anthropometric characteristics were recorded between 1 April 1999 and 31 March 2002. Growth charts were developed by plotting birthweight, length and head circumference percentiles against gestational age for male and female infants separately. Overall, 1348 (5.4%) pregnancies were delivered before 37 weeks' gestation and 1227 (4.9%) were low birthweight. Male infants were delivered slightly earlier than their female counterparts and the mean birthweight, length and head circumference were consistently higher in males. A total of 2247 (9.1%) infants were small-for-gestational-age, with a male-to-female sex ratio of 1.03. Using previously established growth references that overestimated small-for-gestational-age prevalence resulted in a greater proportion of false positives. The opposite was true for growth references that underestimated small-for-gestational-age prevalence. The current growth charts present useful tools for assessing the general health status of newborn infants delivered at sea level in the urban areas of Lebanon and other East Mediterranean countries. [source] Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996,2002,BIRTH DEFECTS RESEARCH, Issue 6 2008Tasneem Husain Abstract BACKGROUND:In utero vascular disruptions are thought to be associated with a variety of birth defects. This study examined the descriptive epidemiology of several of those defects using data from a large birth defects registry. METHODS: Data on birth defects ascertained from pregnancies in 1996,2002 were obtained from the Texas Birth Defects Registry. Using Poisson regression, we calculated crude and adjusted associations between maternal and infant characteristics and birth defects thought to be related to vascular disruption. We repeated the analysis using isolated cases and cases occurring in mothers <20 years. RESULTS: The most commonly shared pattern was observed for plurality and five defects: large intestinal atresia (PR 3.67; CI: 1.63,7.13), renal agenesis (PR 2.05; CI: 1.55,2.65), transverse limb deficiency (PR 1.85; CI: 1.28,2.57), porencephaly (PR 5.18; CI: 2.40,9.87), and Goldenhar syndrome (PR 3.45; CI: 1.04,8.53). Hispanics had the highest prevalence of gastroschisis (PR 1.21; CI: 1.05,1.40), transverse limb deficiency (PR 1.19; CI: 1.01,1.40), microtia/anotia (PR 2.22; CI: 1.83,2.70), and Poland anomaly (PR 1.90; CI: 1.26,2.93). Male infants were at greatest risk for renal agenesis (PR 1.58; CI: 1.40,1.80), porencephaly (PR 1.66; CI: 1.03,2.72), and Poland anomaly (PR 1.52; CI: 1.05,2.21). CONCLUSIONS: Our study confirmed findings in previous studies, but also uncovered several new associations. Birth Defects Research (Part A), 2008. © 2008 Wiley-Liss, Inc. [source] Genetic polymorphisms in Thai neonates with hyperbilirubinemiaACTA PAEDIATRICA, Issue 7 2009Sariya Prachukthum Abstract Aim:, Polymorphisms of the UGT1A1 gene, SLCO1B1 gene and GST gene have been associated with significant hyperbilirubinemia. We would like to determine whether the variation of UGT1A1 gene, SLCO1B1 gene and GST gene may play a significant role in neonatal hyperbilirubinemia in Thai infants. Methods:, Ninety-one study subjects (hyperbilirubinemic group) and 86 control subjects were studied. Results:, The cause of neonatal hyperbilirubinemia could not be identified in 64 infants (70.3%), ABO blood group incompatibility in 14.3% and Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in 8.8%. In the hyperbilirubinemic group, 23 of 91 (25.3%) infants demonstrated variant of UGT1A1 at nucleotides (nt) 211 as compared to 6 of 86 (7%) in the control group (p = 0.001). There were no significant differences between groups in the variants UGT1A1 at nt 686, SLCO1B1 gene at nt 388, 463 and the GST gene. Male infants with G-6-PD deficiency were associated with hyperbilirubinemia (21.2% vs. 4.8% in the control group) with an odds ratio (OR) of 5.37 (p =0.02). The relationship between G-6-PD and variant in UGT1A1 gene at nt 211 could not be determined. Conclusion:, Thai infants with variant in the UGT1A1 at nt 211 or with G-6-PD deficiency are at higher risk for developing neonatal hyperbilirubinemia. [source] Device Closure of a Secundum Atrial Septal Defect in a 4-Month-Old Infant with a Marginal Left Ventricle Following Coarctation RepairCONGENITAL HEART DISEASE, Issue 6 2007Emilie Jean-St-Michel BSc ABSTRACT A male infant presented at birth with severe coarctation of the aorta and marginal left ventricular and mitral valve dimensions associated with a large secundum atrial septal defect. Following successful arch repair, the left ventricle remained small with preferential left-to-right atrial shunting and a dilated right ventricle. Clinically, the infant continued with tachypnea, poor feeding, and failure to thrive. At 4 months of age, the defect was closed with an Amplatzer Atrial Septal Occluder which resulted in immediate left ventricular cavity enlargement and clinical improvement. [source] Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiencyDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 9 2010HAKAN GÜMÜ Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase. We report a male infant with MoCo deficiency whose clinical findings consisted of microcephaly, intractable seizures soon after birth, feeding difficulties, and developmental delay. Sequencing of MOCS1, MOCS2, and GEPH genes, and single nucleotide polymorphism genotyping array analysis showed, to our knowledge, unusual inheritance of MoCo deficiency/maternal uniparental isodisomy for the first time in the literature. At 10 months of age, he now has microcephaly and developmental delay, and his seizures are controlled with phenobarbital, clonozepam, and vigabatrin therapy. [source] Probable trigeminal autonomic cephalgia in a 3-month-old male infantDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 4 2010IRENE VAZ To my knowledge trigeminal autonomic cephalgias (TACs) have not previously been reported in infancy. The diagnosis is dependent on an accurate history, including parents noting any physical signs at the time of the episode. Obtaining a clear history can be challenging when such symptoms occur in preverbal children. Similarly, physical signs, being transient, may have resolved by the time the parents take the child to a doctor. In addition, the investigations may also be normal. In such circumstances, taking a photograph during an episode can confirm the diagnosis. I describe a case of probable trigeminal autonomic cephalgia starting in a 3-month-old male infant who presented with screaming episodes associated with characteristic changes seen on his face. Investigations, including cranial magnetic resonance imaging, electroencephalography, and urinary catecholamines, were normal. The diagnosis was confirmed from a photograph taken by the parents at the time of the attack. As the condition is very rare in young children, there is little information available in the literature on using treatment for prophylaxis or for aborting acute episodes in this age group. [source] A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorderDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 3 2010MICHAEL ABSOUD ARX mutations are associated with variable clinical phenotypes. We report a new neurodegenerative phenotype associated with a known ARX mutation and causing early abnormal neurodevelopment, a complex movement disorder, and early infantile epileptic encephalopathy with a suppression-burst pattern (Ohtahara syndrome). A male infant presented at age 5 months with a dyskinetic movement disorder, which was initially diagnosed as infantile spasms. Clinical deterioration was accompanied by progressive cortical atrophy with a reduction in white matter volume and resulting in death in the first year of life; such a rapidly progressive and severe phenotype has not previously been described. ARX mutation testing should be undertaken in children aged less than 1 year with Ohtahara syndrome and a movement disorder, and in infants with unexplained neurodegeneration, progressive white matter loss, and cortical atrophy. [source] The role of epilepsy in early language development in a child with a congenital lesion in the right hemisphereDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 11 2008C Mayor-Dubois MA Early epilepsy is known to worsen the developmental prognosis of young children with a congenital focal brain lesion, but its direct role is often very difficult to delineate from the other variables. This requires prolonged periods of follow-up with simultaneous serial electrophysiological and developmental assessments which are rarely obtained. We studied a male infant with a right prenatal infarct in the territory of the right middle cerebral artery resulting in a left spastic hemiparesis, and an epileptic disorder (infantile spasms with transient right hemihypsarrhythmia and focal seizures) from the age of 7 months until the age of 4 years. Pregnancy and delivery were normal. A dissociated delay of early language acquisition affecting mainly comprehension without any autistic features was documented. This delay was much more severe than usually expected in children with early focal lesions, and its evolution, with catch-up to normal, was correlated with the active phase of the epilepsy. We postulate that the epilepsy specifically amplified a pattern of delayed language emergence, mainly affecting lexical comprehension, reported in children with early right hemisphere damage. [source] Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocationDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 6 2008Salvatore Grosso MD PhD Periventricular nodular heterotopia and Miller-Dieker syndrome are two different disorders of brain development. Miller-Dieker syndrome exhibits classical lissencephaly and is related to defects in the lissencephaly gene (LIS1). Periventricular nodular heterotopia is characterized by aggregates of grey matter adjacent to the lateral ventricle and is mainly linked to mutations in the Filamin A (FLNA) gene. We describe a male infant presenting with facial dysmorphisms resembling those of Miller-Dieker syndrome, neuromotor delay, and drug - resistant infantile spasms. Magnetic resonance imaging of the brain showed periventricular nodular heterotopia overlaid by classical lissencephaly with complete agyria. Cytogenetic and molecular investigations detected a maternally inherited unbalanced translocation involving chromosome arms 17p and 12q. This resulted in partial monosomy of 17p13.3,pter and partial trisomy of 12q24.3,qter No mutation was found in the FLNA gene. The patient died at the age of 22 months from respiratory insufficiency during an infection of the lower respiratory tract. Our observation extends the list of the overlying cortical malformations associated with periventricular nodular heterotopia. It remains to be established whether this peculiar neuronal migration disorder represents a phenotype totally linked to 17q13.3 deletion or results from a combination of gene defects at 17q13.3 and 12q24.3. [source] Neonatal infarction within basal cerebral vein territoryDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 8 2001Paul Govaert MD PhD In this report, an unusual intracranial haemorrhage in a term male infant born to a mother with diabetes is explained on the basis of occlusion of both basal veins of Rosenthal. This diagnosis relies on anatomical location and iconographic aspect of the clots. Evidence that this vessel is occluded cannot be ascertained from ultrasound or MR angiographic techniques in the neonatal period. The basal vein has not been implicated in previous reports of neonatal brain haemorrhage. [source] Two cases of dermatomyofibroma (plaque-like dermal fibromatosis)INTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 8 2010Elisabeth Gomez-Moyano MD Background, Dermatomyofibroma is a rare but distinct benign cutaneous mesenchymal neoplasm of fibroblastic/myofibroblastic differentiation. It is more common in adolescents and young adults, with a female preponderance. In most cases, the lesions are asymptomatic and small, measuring from 10 to 20 mm. Early and active lesions tend to be actin positive. Case report, We present a) a new case of dermatomyofibroma in an 11-month-old male infant, the youngest case reported to date, and b) the second reported case of a giant annular dermatomyofibroma, measuring 10 cm × 6 cm, in a 52-year-old woman. In both cases, histological examination showed a spindle-cell proliferation embedded among the collagen fibers of the dermis, arranged predominantly parallel to the skin surface. In both cases the spindle cells stained positive for smooth muscle actin and the elastic fibers were increased and fragmented. Conclusion, Dermatologists and pediatricians should be aware of this benign entity in order to avoid unnecessary treatment. [source] Severe Malignant Osteopetrosis Caused by a GL Gene Mutation,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 7 2004Paola Quarello Abstract Infantile malignant autosomal recessive osteopetrosis is a genetically heterogeneous disease caused by the inability of OCLs to resorb and remodel bone, resulting in generalized osteosclerosis and obliteration of marrow spaces and cranial foramina. The classical clinical features are pathological fractures, visual impairment, and bone marrow failure. Two human genes have been described as the cause of this form of osteopetrosis: the T-cell immune-regulator-1 (TCIRG1) gene, which is mutated in >50% of the patients, and the chloride channel 7 (ClCN7) gene, which accounts for ,10% of cases. We report the clinical, radiographic, and histopathologic findings of the first human osteopetrosis case caused by a mutation in the grey-lethal (GL) gene. The patient, a 9-day-old male infant, presented with a very severe osteopetrotic phenotype including substantial hepatosplenomegaly since birth, cytopenia, and progressive major liver failure. Skeletal radiographs revealed a generalized increase in bone density with loss of corticomedullary differentiation. Histopathologic bone examination showed the typical osteopetrotic changes, with absence of resorptive activity, and osteoclasts, slightly decreased in number, with evident morphological alterations. [source] Infantile botulism: Clinical and laboratory observations of a rare neuroparalytic diseaseJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 2 2000E Urdaneta-Carruyo Abstract: A 3-month-old male infant was admitted to the University Hospital of Los Andes with a history of constipation, weak crying, poor feeding, flaccidity and later bilateral ptosis and hyporeflexia. The admission diagnosis was septicaemia until an electrophysiological study reported postetanic facilitation with 50 Hz/seg stimulations four days later. The Clostridium botulinum toxin type B was isolated from the infant's stool samples and the organism grew in anaerobic cultures. The patient recovered completely and was discharged 2 months later. Although infant botulism is an uncommon disease in our environment, this diagnosis must be suspected in all afebrile infants with constipation, affected cranial nerves and generalized hypotonia. The principal differential diagnoses are Landry-Guillain,Barré syndrome, poliomyelitis, myasthenia gravis and infant muscular atrophy. [source] Extremity salvage with a free musculocutaneous latissimus dorsi flap and free tendon transfer after resection of a large congenital fibro sarcoma in a 15-week-old infant.MICROSURGERY, Issue 6 2006A case report A case of complex microsurgical reconstruction of the dorsum of the foot, including tendon transfer following tumor resection, in a 15-week-old male infant is presented. After birth, a 5.5 × 4 cm large tumor was observed on the dorsum of the right foot. Biopsy showed a congenital malignant fibro sarcoma. After initial chemotherapy a radical excision of the tumor at the age of 14 weeks was followed. To cover the defect a musculocutaneous latissimus dorsi flap was taken, the cutaneous part being large enough to cover the defect. Extensor tendons were reconstructed with free tendon transplants. Amputation is usually indicated in these cases. To the best of our knowledge, microsurgical reconstruction in infants at this age with congenital malignant tumors has not yet been reported. The case shows that Plastic surgery can play an important role in pediatric oncology and should routinely be integrated into the multi-modal treatment concepts. © 2006 Wiley-Liss, Inc. Microsurgery, 2006. [source] Identification of a de novo Lys304Gln mutation in the glycine receptor ,-1 subunit gene in a Korean infant with hyperekplexiaMOVEMENT DISORDERS, Issue 4 2008Hoon-Chul Kang MD Abstract Startle disease or hyperekplexia (STHE; MIM 149400) is a rare disorder that is characterized by marked muscular hypertonia in infancy and an exaggerated startle response to unexpected acoustic or tactile stimuli. Mutations in the gene encoding the ,-1 subunit of the inhibitory glycine receptor (GLRA1) were reported as causes of STHE. Recently, we encountered a Korean male infant with generalized stiffness that was observed from the first 3 days of life. The abnormal startle response was evident from the fourth week of life, and he showed marked improvement in the startle response and muscle hypertonia after being administered phenobarbital and clonazepam. Direct sequencing analysis of the infant and his parents revealed a de novo variation (c.910A>C) in the GLRA1 gene, resulting in a novel Lys304Gln missense mutation. © 2007 Movement Disorder Society [source] Farber's disease diagnosed by nerve biopsyNEUROPATHOLOGY & APPLIED NEUROBIOLOGY, Issue 2 2002J. Jacobs Introduction:, Farber's disease (granulomatosis) is a rare inherited lipid storage disease caused by a deficiency of lysosomal acid-ceramidase. Clinical features include contractures of limbs with swelling of joints and multiple subcutaneous nodules. In a few cases there is prominent involvement of central and peripheral nervous systems. Ceramide accumulates in the nodules and in cells of many other tissues including brain. Electron microscopy of affected cells shows membrane-bound inclusions, some of which have a highly characteristic curved or ,banana' shape (Farber bodies). Nerve biopsy findings have been described in a few cases but our patient appears to be the first to have been diagnosed by nerve biopsy. Case report:, This male infant presented at 6 months with joint pain and swelling, fever weakness and nystagmus: EMNG demonstrated sensory-motor polyneuropathy with features of demyelination. Semi-thin resin sections show a moderately reduced density of myelinated fibres. The myelin sheaths of most fibres are inappropriately thin, which was confirmed morphometrically: some axons are demyelinated. Vacuolar inclusions are seen in some Schwann cells. Teased fibres show de- and remyelination. Electron microscopy shows oval, boomerang- or banana-shaped inclusions in Schwann cells associated with myelinated and unmyelinated axons, but not in other cell types. Conclusion:, Farber's disease is associated with a demyelinating neuropathy. [source] An infant with self-healing cutaneous Langerhans cell histiocytosis followed by isolated thymic relapsePEDIATRIC BLOOD & CANCER, Issue 2 2009Naoki Hatakeyama MD Abstract Thymic involvement with Langerhans cell histiocytosis (LCH) typically occurs in children as part of multi-system (M-S) LCH. Patients who develop skin-only LCH during infancy may either follow a self-healing course with spontaneous regression or may progress to M-S involvement. We describe a male infant who developed isolated thymic LCH after spontaneous complete regression of isolated cutaneous lesions. His erythrocyte sedimentation rate and C-reactive protein increased temporarily during the skin-only stage of LCH, and increased again considerably during the thymic relapse. Even for patients with skin-only LCH, these laboratory data might indicate possible relapse or late progression of the disease. Pediatr Blood Cancer 2009;53:229,231. © 2009 Wiley-Liss, Inc. [source] Preimplantation genetic diagnosis of Morquio diseasePRENATAL DIAGNOSIS, Issue 10 2008Wafa Qubbaj Abstract Objectives Morquio syndrome is an autosomal recessive disease and mutations in the N -acetylgalactosamine 6-sulfate sulfatase (GALNS) gene cause Morquio type A disease. Preimplantation genetic diagnosis (PGD), an early form of prenatal diagnosis for couples at risk of transmitting inherited diseases, was applied to prevent transmission of this disease. Methods A couple with three affected children, having homozygous W159C (p. Trp 159 Cys) mutation in GALNS gene, underwent in vitro fertilization (IVF) treatment and PGD. Mutation analyses from the embryos were performed following whole genome amplification of single blastomeres using multiple displacement amplification (MDA). Results Three embryos were diagnosed as normal and two were transferred on day 4. The cycle resulted in a pregnancy and a live birth of a carrier male infant. Genetic haplotyping analysis of the infant and the leftover MDA samples enabled us to determine which embryo was implanted. The discrepancy in results was explained by allele dropout (ADO) of the mutant allele from the MDA product. Conclusions A feasible strategy for PGD of Morquio disease including whole genome amplification by MDA and the use of preimplantation genetic haplotyping is described. MDA product archiving will be useful for future investigations if needed. Copyright © 2008 John Wiley & Sons, Ltd. [source] A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcomePRENATAL DIAGNOSIS, Issue 7 2003Eileen Roberts Abstract Objectives To add to the knowledge base concerning confined placental mosaicism for trisomy 2. Methods Cytogenetic study of a late CVS referred for hyperechogenic bowel and raised AFP, and cytogenetic and molecular genetic study of a follow-up amniocentesis. Ultrasound monitoring at regular intervals following the CVS result. Results All cells examined from direct and cultured CVS showed a 47,XY,+2 karyotype. Amniocentesis showed a mosaic 47,XY,+2[8]/46,XY[81] karyotype. Uniparental disomy (UPD) studies on the amniotic fluid showed normal biparental inheritance. The pregnancy developed oligohydramnios and IUGR and resulted in a 26-week liveborn male infant with a 46,XY karyotype, which died after 3 days because of complications of severe prematurity. Placental villi post delivery showed only the 47,XY,+2 cell line. Conclusions This case represents a further example of confined placental mosaicism (CPM) for trisomy 2 associated with oligohydramnios, IUGR and poor pregnancy outcome. Copyright © 2003 John Wiley & Sons, Ltd. [source] Brief Communication: Successful Isolated Liver Transplantation in a Child with Atypical Hemolytic Uremic Syndrome and a Mutation in Complement Factor HAMERICAN JOURNAL OF TRANSPLANTATION, Issue 9 2010W. Haller A male infant was diagnosed with atypical hemolytic uremic syndrome (aHUS) at the age of 5.5 months. Sequencing of the gene (CFH) encoding complement factor H revealed a heterozygous mutation (c.3644G>A, p.Arg1215Gln). Despite maintenance plasmapheresis he developed recurrent episodes of aHUS and vascular access complications while maintaining stable renal function. At the age of 5 years he received an isolated split liver graft following a previously established protocol using pretransplant plasma exchange (PE) and intratransplant plasma infusion. Graft function, renal function and disease remission are preserved 2 years after transplantation. Preemptive liver transplantation prior to the development of end stage renal disease is a valuable option in the management of aHUS associated with CFH mutations. [source] A sporadic case of visceral leishmaniasis from Kocaeli, Turkey,APMIS, Issue 11 2006Case report Visceral and cutaneous leishmaniasis are endemic in the western and southeastern parts of Turkey. We report a sporadic case of visceral leishmaniasis from Kocaeli, which is not an endemic area. The patient, a 10-month-old male infant, had since birth never been outside the city. He was referred to our hospital with a one-month history of fever. Antibiotics were administered but fever persisted. There were Leishman bodies in the bone marrow aspirate, both in macrophages and in clusters among other cells. Immunofluorescence antibody test (IFAT) detected no antibodies in the mother. Liposomal amphotericin B was administered. Visceral leishmaniasis should be considered in the differential diagnosis of patients with persistant fever, hepatosplenomegaly and cytopenia, even in nonendemic areas. [source] Gadolinium-based balloon angioplasty for pulmonary artery stenosis in an infant with a right isomerismCATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS, Issue 3 2004Hisashi Sugiyama MD Abstract We report here the first described case of utilizing gadolinium-based contrast material as the contrast agent during a catheter intervention treatment for pulmonary artery stenosis. The patient, a male infant with complex heart disease associated with a right isomerism, had a history of severe allergic reaction to iodine-containing contrast agents. A combination of digital subtraction angiography and a gadolinium contrast agent, however, provided us with good-quality images both before and after balloon angioplasty without any associated complications. This method should therefore be considered as an alternative angiographic procedure in children with a high risk of iodine-related allergic complications. Catheter Cardiovasc Interv 2004;63:346,350. © 2004 Wiley-Liss, Inc. [source] Atresia of the submandibular duct orifices: an unusual cause of feeding problems and failure to thrive in an infantACTA PAEDIATRICA, Issue 7 2010Eva Ellegård Abstract Atresia of the submandibular duct orifice is a rare developmental anomaly, which causes swelling of the duct by accumulation of saliva. The cystic mass in the floor of the mouth can cause feeding problems, which can be treated by surgical opening of the duct. We report the first Swedish case in a male infant, who had severe difficulties to feed because of bilateral swellings of the submandibular ducts caused by orifice atresia. Conclusion: This is the first case that has described failure to thrive because of this condition and catch up after treatment. It is important to remember that evaluation of feeding problem in an infant must include inspection of the oral cavity. [source] Congenital chylous ascites: the roles of fibrin glue and CD31ACTA PAEDIATRICA, Issue 11 2009N Densupsoontorn Abstract A 6-month-old male infant who presented with abdominal distension and congenital chylous ascites was diagnosed. He was initially refractory to conservative therapy, and then was completely cured with ligation of megalymphatics and fibrin glue application. Immunoperoxidase staining for CD31 on the biopsied peritoneal tissues highlighted the lining cells of lymphatic spaces, which indicated lymphangiectasia. Conclusion: This case emphasizes the effectiveness of lymphatic ligation of the retroperitoneal megalymphatics in conjunction with fibrin glue application to cure congenital lymphangiectasia. [source] Successful treatment of profound hypothermia of the newbornACTA PAEDIATRICA, Issue 1 2009P Konopova Abstract We report a case of a profoundly hypothermic newborn with a core temperature of 25°C with a successful recovery and normal neurological outcome at 3 and 6 months. This term male infant had been exposed to a temperature of ,3°C for approximately 30 min. Slow re-warming, using external modalities was used in addition to volume expansion, heparinization, antibiotics and sedation. There is limited information available concerning the safest and most effective method of re-warming hypothermic newborns. Slow re-warming has been advocated as it replicates the normal physiological process in a neonate, which minimizes a negative therapy impact. Conclusion: The most significant decision regarding treatment is the identification of the most appropriate method and speed of re-warming. This report supports recommendations for gradual re-warming of a severely hypothermic newborn. Physiological cardiovascular mechanisms seemed to be intact during slow re-warming; this might be applicable to the treatment of profound hypothermia of the newborn. [source] Partial cerebellar hypoplasia in a patient with Prader-Willi syndromeACTA PAEDIATRICA, Issue 7 2006Luigi Titomanlio Abstract We report a 3-y-old male infant with Prader-Willi syndrome (PWS) caused by a de novo interstitial deletion of 15q11-q13. Additional features included a right cerebellar hemisphere hypoplasia. The extent of deletion was determined by FISH analysis using an SNRPN PW/AS probe that maps in the PWS/AS critical region (CR) and with specific 15q BACs. We unravelled an interstitial 15q11.2-q13.1 deletion spanning about 3 Mb. Conclusion: To date only a few other PWS patients,including autopsy cases,with CNS structural anomalies have been described. Our case report adds knowledge to the issue of brain involvement in Prader-Willi syndrome. Further MRI studies of PWS patients will be helpful to clarify a correlation between PWS and brain abnormalities. [source] Management of a pregnant patient with Graves' disease complicated by thionamide-induced neutropenia in the first trimesterCLINICAL ENDOCRINOLOGY, Issue 4 2001S. Davison A 31-year-old woman presented with neutropenia due to thionamide drug therapy for Graves' disease. She also reported 8 weeks of amenorrhoea and had a positive pregnancy test. Her drug therapy was discontinued and her neutropenia resolved uneventfully. The hyperthyroidism recurred a week later. After consideration of all treatment options, it was decided to observe until 14 weeks when an elective thyroidectomy was planned. Mother and fetus were monitored closely and both tolerated moderate hyperthyroidism well. At 14 weeks the patient underwent a total thyroidectomy after rendering her euthyroid with a short course of sodium ipodate. Labour was induced at 41 weeks. Delivery was complicated by fetal distress and precipitated a forceps delivery. A 3250 g male infant was born with poor Apgar score and required 2 h of ventilation. At 1 year, the child had reached all developmental milestones at appropriate times. Both mother and fetus may tolerate moderate thyrotoxicosis well in early pregnancy, an alternative that should be considered when thionamide drug therapy is contraindicated. [source] Exclusively breastfed, low birthweight term infants do not need supplemental waterACTA PAEDIATRICA, Issue 5 2000RJ Cohen Breast milk intake, urine volume and urine-specific gravity (USG) of exclusively breastfed, low birthweight (LBW) term male infants in Honduras were measured during 8-h periods at 2 (n= 59) and 8 (n = 68) wk of age. Ambient temperature was 22,36°C and relative humidity was 37,86%. Maximum USG ranged from 1.001 to 1.012, all within normal limits. Conclusions: We conclude that supplemental water is not required for exclusively breastfed, LBW term infants, even in hot conditions. [source] An examination of different fetal specific antibodies and magnetic activated cell sorting for the enrichment of fetal erythroblasts from maternal bloodCONGENITAL ANOMALIES, Issue 3 2002Xiao Xi Zhao ABSTRACT, The aim of the present study was to compare the rates of fetal cells obtained after separation from maternal blood by magnetic activated cell sorting (MACS) using different fetal specific antibodies, and to evaluate the potential role of this method in the prenatal diagnosis of fetal trisomies. Peripheral blood samples were obtained from 42 women carrying chromosomally normal fetuses and from 4 women with aneuploid fetuses (2 cases of 47,XX,+18 and 2 of 47,XY,+21) at 9,20 weeks of gestation. After fetal cells were enriched by MACS with three different monoclonal antibodies (GPA, CD71, CD14), fluorescence in situ hybridization (FISH) with chromosome X, and Y-specific probes was performed to detect the rates of fetal cells in the samples sorted. FISH with chromosome 13-, 18-, and 21-specific probes was carried out to compare proportions of cells with three-signal nuclei in chromosomally normal and abnormal groups. In male infants, X-and Y-positive cells were detected in 80%, 73.3%, and 66.6% of samples after the separation by antibodies CD14, GPA, and CD71, respectively. The percentage of nuclei with three signals was increased in pregnancies with trisomy, ranging between 2% and 5.18%. Pregnancies with normal fetuses showed 0 to 3.7% of nuclei with three signals. The data demonstrate that fetal cell detection varies depending on the antibodies used for cell sorting. This study provides further evidence on the feasibility of screening for fetal chromosomal abnormalities by enriching maternal blood for fetal cells and using FISH. [source] | ||||||||||||||||||||||||||||