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Hmaimess Ghassan - - 2005
This report illustrates the usefulness and safety of very early hemispherotomy in an infant with Ohtahara syndrome (OS) secondary to left parieto-occipital megalencephaly. It provides evidence that surgical intervention might provide promising results in selected cases, and that young age is not a contraindication for this type of surgery.
Haddad P M - - 2005
We report a case of neonatal symptoms of irritability, increased tonus and convulsions after in-utero exposure to paroxetine 30 mg/day. The infant's symptoms commenced on the first day after birth and persisted for 10 days. Paroxetine levels were undetectable on day 6. Extensive investigations excluded infective and metabolic causes. Serotonin ...
Culic Srdjana - - 2005
BACKGROUND: The aim of this study was to extend and develop knowledge of the clinical parameters of cold injury syndrome (CIS) in hypothermic infants and newborns, so that morbidity, mortality, and neurodevelopmental disturbances associated with the condition can be reduced. METHODS: This retrospective, 10-year cohort study investigated 103 hypothermic infant ...
Fajardo Noel R - - 2005
Functional dyspepsia (FD) refers to unexplained pain or discomfort in the upper abdomen and is commonly seen in gastroenterology practice. The underlying pathophysiologic mechanisms associated with FD are unclear, although traditionally, delayed gastric emptying, visceral hypersensitivity to acid or mechanical distention, and impaired gastric accommodation have been implicated as putative ...
Pearce J - - 2005
We report a female infant noticed by her mother to have reduced movements of her right wrist and left foot at birth. This female presented to the Accident and Emergency Department of Queen Elizabeth Hospital, London, UK, aged 6 weeks, with significant weakness of her right wrist and left foot. ...
Nishijima Koji - - 2005
OBJECTIVE: To clarify resuscitation methods against the lethal vernix caseosa aspiration syndrome. METHOD: A single case report with a literature review. RESULTS: Our case report was associated with aspiration syndrome caused by an airway obstruction of vernix caseosa: a proteolipid biofilm synthesized by the fetus. A 23-year-old woman normally delivered ...
Tuisku K - - 2005
In a previous, controlled study we demonstrated that the general lower limb activity measured by three-channel actometry is a promising objective measure of restless legs syndrome (RLS) severity. In the present study we have further evaluated the method in measuring RLS symptom severity in an open, single-day pramipexole intervention with ...
Serreau Raphaël - - 2005
This is the first report of a neonatal withdrawal syndrome associated with maternal hydroxyzine treatment (150 mg/day) confirmed by measurements of hydroxyzine plasma concentrations in the mother and infant after birth. Hydroxyzine plasma concentrations were measured by liquid chromatography-mass spectrometry. Neurological symptoms with low neonatal concentrations of hydroxyzine may be ...
Antzelevitch Charles - - 2005
Since its introduction as a clinical entity in 1992, the Brugada syndrome has progressed from being a rare disease to one that is second only to automobile accidents as a cause of death among young adults in some countries. Electrocardiographically characterized by a distinct ST-segment elevation in the right precordial ...
Yen Jui-Lung - - 2005
Androgen insensitivity syndrome (AIS) is the major cause of male pseudohermaphroditism. The severity of the disorders varies widely, ranging from the phenotypic women with female external genitalia in cases of complete AIS to the phenotype of ambiguous genitalia in partial androgen insensitivity syndrome (PAIS) and a rare group of phenotypic ...
Vaux Keith K - - 2005
The Kabuki syndrome is a well-established pattern of human malformation with readily recognizable features, however the diagnosis is rarely made in the newborn period. The purpose of this study was to determine if there exists a neonatal phenotype for this disorder. We ascertained 16 infants evaluated in the first 28 ...
Vasta Isabella - - 2005
OBJECTIVE: To evaluate retrospectively the prevalence of neuromuscular disorders in 83 newborns referred to a tertiary care center because of hypotonia and weakness and/or contractures, with a possible diagnosis of neuromuscular disorder. We also aimed to establish whether clinical signs could help to identify infants with neuromuscular disorders. STUDY DESIGN: ...
Ross Judith L - - 2005
BACKGROUND/AIMS: Klinefelter syndrome (KS) is characterized by the karyotype 47,XXY. In this study, we evaluated the physical and testicular failure phenotypes of infants and young boys with KS. METHODS: The evaluation included auxologic measurements, biologic indices of testicular function, and clinical assessment of muscle tone in 22 infants and young ...
Bubnaitiene Vilija - - 2005
To identify risk factors for sudden infant death syndrome relevant in Lithuania. A nationwide case-control study surveying parents of 35 infants who died from sudden infant death syndrome during the period of 1997-2000 and parents of 145 control infants matched with SIDS infants for date of birth and for region ...
Littlefield Timothy R - - 2004
In 1992, the American Academy of Pediatrics (AAP) recommended supine sleeping to reduce the risk of sudden infant death syndrome. Although the incidence of deformational plagiocephaly is unknown, the consensus is that it has increased since this recommendation was made. To estimate the current incidence of plagiocephaly, we examined 342 ...
Rios Angel - - 2004
Recognition of the clinical features of Trisomy 13 syndrome, a common autosomal trisomy, provides the basis for diagnostic testing and counseling of families. This article provides a systematic guide to physical assessment and photographs to enhance recognition of this genetic disorder. The principles of numerical chromosomal abnormalities as related to ...
Rice Henry E - - 2004
BACKGROUND/PURPOSE: Complete DiGeorge syndrome results in the absence of functional T cells. Our program supports the transplantation of allogeneic thymic tissue in infants with DiGeorge syndrome to reconstitute immune function. This study reviews the multidisciplinary care of these complex infants. METHODS: From 1991 to 2001, the authors evaluated 16 infants ...
Day Ian N M - - 2004
Low rates of fetal and infant growth are associated with the metabolic syndrome and cardiovascular disease in later life. We investigated common genetic variation in the GH-CSH gene cluster on chromosome 17q23 encoding GH, placental lactogens [chorionic somatomammotropins (CSH)], and placental GH variant in relation to fetal and infant growth ...
Shaefer Sarah J McDermott - - 2004
Fetal and Infant Mortality Review (FIMR) is a continuous quality improvement program that leads to improvements in services and resources for families and, ultimately, a decrease in infant mortality. It is an action-oriented process that combines medical data with the mother's report of experiences during the life and death of ...
Caccamese John - - 2004
Positional plagiocephaly is a cranial vault deformation in the presence of open cranial vault sutures with no negative neurologic consequences. A distinct morphologic pattern and patent cranial sutures noted on confirmatory radiographic studies distinguish positional plagiocephaly from abnormal head shapes secondary to craniosynostosis. Management consists of conservative (nonsurgical) means, depending ...
Rambaud Caroline - - 2004
Investigation of body position in infants with sudden and apparently unexplained death. Determination of the upper airway space of the infants in different positions by computed tomography (CT) scan. Comparison of the CT scan, the body position at death scene, and the autopsy results. Prospective investigation on all infants referred ...
Mine K - - 2004
Kawasaki disease (KD) is an acute vasculitis of unknown aetiology with varied clinical manifestations. Although coronary arteritis is common in the course of KD, central nervous system involvement is rare. We report a case of KD in an infant who developed convulsions and apnoea during his illness associated with syndrome ...
Nowaczyk MaƂgorzata J M - - 2004
OBJECTIVES: To determine the incidence and point prevalence of Smith-Lemli-Opitz syndrome (SLOS) in Canada; to determine the percentage of mild cases of SLOS; and to determine the age of diagnosis of mildly affected patients. SLOS is a treatable genetic condition that may be difficult to diagnose in its mildest form ...
Singh S - - 2004
A natal tooth is that which is present in the oral cavity at the time of birth. Fibrous hyperplasia is a non-specific reactive lesion of soft tissues of unknown etiology usually associated with trauma or local irritation. Natal teeth can occur as an isolated dental finding, but many times they ...
Finnström Orvar - - 2004
Male infants have a 50% higher risk of death from respiratory diseases and a number of congenital heart diseases that can lead to cerebral hypoxia. The most important of these diseases are infant respiratory distress syndrome and sudden infant death syndrome. Conclusion: The mechanism behind the excess peri-mortality rate in ...
Whitelaw Charlotte M - - 2004
We present the clinical and ophthalmological findings in two infants with neonatal Marfan syndrome (nMFS) and primary trabeculodysgenesis (PT). Fibrillin 1 (FBN1) mutations were confirmed in both cases. Numerous eye anomalies have been recognized in infants with nMFS, but PT has not been reported previously. Our report expands the phenotype ...
Malandrini A - - 2004
We report the case of a 41-year-old patient with bilateral hemorrhage of the thalamus, leading to death. Post-mortem examination showed acute myocarditis. Neuropathological study showed perivascular infiltrates in affected thalamic regions. Laboratory investigation failed to find any causal agent. We hypothesize an infective agent, affecting the heart and thalamus, as ...
Kabbani Haidar - - 2004
Skull deformity in infants continues to be a diagnostic and therapeutic challenge. Deformational plagiocephaly is a common and somewhat benign cause of skull deformity in infants that must be distinguished from the more serious craniosynostosis, which occurs alone or as a syndrome. Examining an infant's head from above can help ...
Fayyaz Afshan - - 2004
Achalasia cardia is a very rare entity in children and may go undiagnosed for many months if not suspected. We report a case of a 4 months old child who presented with regurgitation of milk and solids and failure to thrive. She was initially treated as gastro-oesophageal reflux. There was ...
Bohnert M - - 2005
Within a period of 9 years a young woman lost 3 daughters during infancy and each time death was attributed to the sudden infant death syndrome. The children had different fathers and died at the ages of 11 weeks, 7 weeks and 2 weeks, respectively. A fourth daughter survived and ...
Markert M Louise - - 2004
Complete DiGeorge syndrome is a fatal congenital disorder characterized by athymia, hypoparathyroidism, and heart defects. Less than half of patients are 22q11 hemizygous. The goal of this study was to assess if immune suppression followed by postnatal thymus transplantation would lead to T-cell function in 6 infant patients who had ...
Lupoglazoff Jean-Marc - - 2004
OBJECTIVES: We hypothesized that neonatal long QT syndrome (LQTS) with 2:1 atrioventricular block (AVB) could be related to HERG mutations. BACKGROUND: Early onset of LQTS is rare but carries a high risk of life-threatening events such as ventricular arrhythmias and conduction disorders. There are no data on possible gene specificity. ...
Limerick S R - - 2004
To determine whether the terms used by pathologists in reporting on sudden infant deaths are applied consistently. Postal survey. Replies were received from 63 pathologists who carry out necropsies after sudden infant deaths. There was a pronounced variation in their use of the terms "sudden infant death syndrome" and "unascertained", ...
Schrander-Stumpel Constance Th R M - - 2004
Prader-Willi syndrome (PWS) is a complex condition with many medical and psychological features. In individuals with this syndrome, causes of death were studied. Data of 27 case reports were collected. Ages at death ranged from neonatal to 68 years. None of the individuals were treated with growth hormone (GH). Most ...
Yun Anthony J - - 2004
Sudden infant death syndrome is the leading cause of death in infancy, but its pathophysiological mechanism has been elusive. Sudden death in adults is a common phenomenon, but the etiology in many cases remains unknown at autopsy. We hypothesize that maladaptive sympathetic bias is the explanatory mechanism that links many ...
Shah P S - - 2003
OBJECTIVE: To compare the clinical course and neonatal outcomes of preterm infants with oesophageal perforation (OP). METHODS: Retrospective case control study of infants admitted between 1994 and 2001 and diagnosed with OP was performed at two tertiary care centres in Toronto, Canada. One control per case was matched by the ...
Gardner Victoria A - - 2003
Premature and full-term infants may be born with congenital abnormalities or develop acquired lesions of the gastrointestinal tract that require the placement of an enterostomy. Enterostomies can result in significant segments of excluded small bowel, creating a functional short bowel syndrome. Infants with enterostomies can develop dehydration, electrolyte imbalance, and ...
ben-Aaron M - - 2003
The brain's processes, by hypothesis, involve information processing by an extraordinarily complex, highly sophisticated, self-organizing cybernetic system embedded in the central nervous system. This cybernetic system generates itself in successive stages. Breathing is, by default, an autonomous function, but breath control is learned. If there is not a smooth transfer ...
Mahakkanukrauh Pasuk - - 2003
Osteophytes as a stigma for shoulder impingement syndrome and osteoarthritis of the acromioclavicular (AC) joint were studied on the acromions and AC joints in 346 skeletons (230 males; 116 females), ranging in age from 15-100 years. Osteophytes were found on 28.9% (200/692) of the acromions, mostly on the anteroinferior aspect ...
Brun E - - 2003
Cardiomyopathy syndrome (CMS) was first diagnosed in the mid-1980s in farmed Atlantic salmon in Norway, and later also in Scotland and the Faeroe Islands. In Norway the number of diagnosed cases increased from 25 to 103 in the period from 1998 to 2001 according to the National Veterinary Institute (NVI) ...
Chang Jei-Wen - - 2003
A case of congenital nephrotic syndrome (CNS) caused by diffuse mesangial sclerosis (DMS) is presented. A female baby weighting 2,680 gm was delivered at 35 weeks' gestation. She had early onset of generalized edema, heavy proteinuria, oligouria, uncorrectable hypoalbuminemia, and rapid progression to renal failure. Even after being treated with ...
Trifirò G - - 2003
During the neonatal period the diagnosis of the Prader-Willi syndrome (PWS) is difficult because the syndrome is expressed mainly by severe hypotonia at this age and the typical clinical features of later life are not yet present. AIM: To identify all the PWS clinical markers in severe hypotonic newborns, which ...
Adair Steven M - - 2003
Pediatric dentists are generally well aware of the oral implications of nonnutritive sucking (NNS). NNS via digit or pacifier can effect changes in the occlusion, including openbite, excessive overjet, and possibly posterior crossbite. Skeletal changes have also been attributed to NNS. There is some evidence that pacifiers may do less ...
Stanton Michael P - - 2003
The authors report a case of a surviving infant with sirenomelia (Mermaid syndrome). The child is now 4 years of age. The authors believe that this is only the fourth reported case of an infant with sirenomelia surviving beyond the neonatal period and the first associated with absent bladder. The ...
Aronica-Pollak Patricia A - - 2003
A case of a four-month-old male infant is described who was found unresponsive at home and brought to the emergency room. He lived for four days. During his hospital admission he was diagnosed by radiography with a fracture of the third lumbar vertebra that was presumed abusive in nature. Autopsy ...
Persing John - - 2003
Cranial asymmetry may be present at birth or may develop during the first few months of life. Over the past several years, pediatricians have seen an increase in the number of children with cranial asymmetry, particularly unilateral flattening of the occiput. This increase likely is attributable to parents following the ...
Byard Roger W - - 2003
The carcass of a young adult male Indian Ocean Bottlenose dolphin (Tursiops cf aduncus) was found floating in an estuary near Adelaide, South Australia. An autopsy revealed that death had been caused by obstruction of the upper aerodigestive tract by a 660 mm Cobbler Carpetshark (Sutorectus tentaculatus). Similar airway obstruction ...
Biggs Wendy S - - 2003
In children with positional head deformity (posterior plagiocephaly), the occiput is flattened with corresponding facial asymmetry. The incidence of positional head deformity increased dramatically between 1992 and 1999, and now occurs in one of every 60 live births. One proposed cause of the increased incidence of positional head deformity is ...
Vanholder Raymond - - 2003
The retention in the body of compounds, which normally are secreted into the urine results in a clinical picture, called the uremic syndrome. The retention compounds responsible for the uremic syndrome are called uremic toxins. Only a few of the uremic retention solutes fully conform to a true definition of ...
Nowak-Göttl Ulrike - - 2003
In neonates and infants numerous clinical and environmental conditions such as the use of central lines, cardiac diseases and polycythemia, renal diseases such as congenital nephrotic syndrome and neonatal hemolytic uremic syndrome, peripartal asphyxia, infants of diabetic mothers, dehydration, septicemia, necrotizing enterocolitis, acute respiratory distress syndrome, and extracorporeal membrane oxygenation ...
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