Sudden infant death syndrome (SIDS)--standardised investigations and classification

DEFF Research Database (Denmark)

Bajanowski, Thomas; Vege, Ashild; Byard, Roger W

2007-01-01

Sudden infant death syndrome (SIDS) still accounts for considerable numbers of unexpected infant deaths in many countries. While numerous theories have been advanced to explain these events, it is increasingly clear that this group of infant deaths results from the complex interaction of a variet...

Cardiac channelopathies and sudden infant death syndrome

DEFF Research Database (Denmark)

Tfelt-Hansen, Jacob; Winkel, Bo Gregers; Grunnet, Morten

2011-01-01

Sudden infant death syndrome (SIDS) is always a devastating and unexpected occurrence. SIDS is the leading cause of death in the first 6 months after birth in the industrialized world. Since the discovery in 1998 of long QT syndrome as an underlying substrate for SIDS, around 10-20% of SIDS cases...

Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis.

Science.gov (United States)

Suzumura, H; Sakurai, K; Kano, K; Ichimura, T

1996-10-01

A case of Coffin-Siris syndrome in a male of extremely low birthweight with severe kyphoscoliosis is reported. His birthweight was 965 g, the lowest reported in the world for an infant with this syndrome. Coffin-Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation. He was the only case who was mechanically ventilated from birth because of birth asphyxia. He died at 12 days of age because of sepsis, a poor immune system as in other extremely low birthweight infants, and because he easily suffered from upper respiratory infection as a result of Coffin-Siris syndrome. Kyphoscoliosis is suggested as one of the important features in low birthweight cases of Coffin-Siris syndrome in previous reports and in the present case.

Sudden infant death syndrome, childhood thrombosis, and presence of genetic risk factors for thrombosis

DEFF Research Database (Denmark)

Larsen, TB; Nørgaard-Pedersen, B; Lundemose, JB

2000-01-01

in the child. This prompted us to investigate these genetic markers of thromboembolic disease in 121 cases of sudden infant death syndrome and in relevant controls, in the expectation of a more frequent occurrence of these markers if thrombosis is an etiological factor in sudden infant death syndrome...... or unknown risk factors for thrombosis as possible etiological factors for sudden infant death syndrome. It is likely that we must continuously employ the exclusion principle on possible etiological causes in genetic material from a large group of victims of sudden infant death syndrome if the phenomenon...

Sudden infant death syndrome, childhood thrombosis, and presence of genetic risk factors for thrombosis

DEFF Research Database (Denmark)

Larsen, T B; Nørgaard-Pedersen, B; Banner, Jytte

2000-01-01

in the child. This prompted us to investigate these genetic markers of thromboembolic disease in 121 cases of sudden infant death syndrome and in relevant controls, in the expectation of a more frequent occurrence of these markers if thrombosis is an etiological factor in sudden infant death syndrome......Sudden infant death syndrome or "cot death" has until the late eighties been a significant cause of death in children between the ages of 1 month and 1 year. Approximately two per 1000 children born alive dies of sudden infant death syndrome each year in Western Europe, North America, and Australia....... The vulnerability of the infant brain stem to ischemia has been suggested to be a conceivable cause of sudden infant death syndrome. This is compatible with a hypothesis that genetic risk factors for cerebral thrombosis could cause microinfarction in the brain stem during the first month of life, affecting vital...

Sirenomelia (Mermaid syndrome in an infant of a diabetic mother

Directory of Open Access Journals (Sweden)

Davari Tanha F

2003-05-01

Full Text Available Caudal regression syndrome (Caudal dysplasia sequence is a rare congenital malformation. It has a spectrum ranging from simple anal atresia to the absence of sacral, lumbar and possibly lower thoracic vertebrae and the most severe form called sirenomelia (Mermaid syndrome. Sirenomelia has a sole characteristic, which is the limbs fusion, with multiple internal structural abnormalities particularly in the renal tract (bilateral renal agenesis. This is a rare condition with a relative risk of 200-250 in diabetic pregnancies. The etiology of this syndrome is not well known. Maternal diabetes in considered to be other possible factors. We present birth of an infant with great congenital defect, which was categorized as the most intense form of caudal regression syndrome (sirenomelia. The baby was born from an uncontrolled diabetic mother who was ignorant of her diabetes. She had a sonographic report at early third-trimester of pregnancy, which had shown severe oligohydramnios and according to this reason the anomaly of the fetus was not detected at that time (antenatal. Since sirenomelia is a lethal abnormality, the infant died a few hours after birth. As notes above caudal regression syndrome is strongly associated with maternal diabetes; due to metabolic derangement in uncontrolled serum glucose.

Sleep phenotypes in infants and toddlers with neurogenetic syndromes.

Science.gov (United States)

Abel, Emily A; Tonnsen, Bridgette L

2017-10-01

Although sleep problems are well characterized in preschool- and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls. Mothers of 80 children (18 AS, 19 WS, 19 PWS, and 24 TD) completed the Brief Infant Sleep Questionnaire. Primary dependent variables included (1) sleep onset latency, (2) total sleep duration, (3) daytime and nighttime sleep duration, and (4) sleep problem severity, as measured by both maternal impression and National Sleep Foundation guidelines. Sleep problems are relatively common in children with neurogenetic syndromes, with 41% of mothers reporting problematic sleep and 29% of children exhibiting abnormal sleep durations as per national guidelines. Across genetic subgroups, problems are most severe in children with AS and WS, particularly in relation to nighttime sleep duration. Although atypical sleep is characteristically reported in each syndrome later in development, infants and toddlers with PWS exhibited largely typical patterns, potentially indicating delayed onset of sleep problems in concordance with other medical features of PWS. Our findings suggest that sleep problems in neurogenetic syndromes emerge as early as infancy and toddlerhood, with variable profiles across genetic subgroups. This work underscores the importance of early sleep screenings as part of routine medical care of neurosyndromic populations and the need for targeted, syndrome-sensitive treatment. Copyright © 2017 Elsevier B.V. All rights reserved.

PECULIARITIES OF THE NURSING PROCESS IN INFANTS WITH DOWN’S SYNDROME

Directory of Open Access Journals (Sweden)

N. B. Merzlova

2012-01-01

Full Text Available Nursing process arrangement for infants with Down’s syndrome requires nonroutine solutions when nurse’s professional capacity criterion is her psychological and pedagogical preparation, personality traits favoring the real communication with children and parents, vision of the future and a desire to find a way out of the impasse. Nursing process for infants with Down’s syndrome is put into effect in an extreme stress situation with a time limit on making a decision about whether to take a child in a family or to give it up, while it is also important that the nursing process as a method of consequent systematic professional nursing in corpore. A description of all stages of the nursing process for infants with Down’s syndrome is given, a map of each nursing process stage is made, a typology of psychological adaptation of mothers having given birth to children with perinatal pathology is given, recommendations on psychological aid for mothers of the infants with Down’s syndrome on the basis of the 4 aforementioned types of adaptation to an existing situation are structured.

Risk Factors for the Development of Refeeding Syndrome-Like Hypophosphatemia in Very Low Birth Weight Infants.

Science.gov (United States)

Igarashi, Aiko; Okuno, Takashi; Ohta, Genrei; Tokuriki, Shuko; Ohshima, Yusei

2017-01-01

Refeeding syndrome is characterized by metabolic disturbance including hypophosphatemia and hypokalemia upon reinstitution of nutrition in severely malnourished patients. The present study sought to identify the risk factors for the development of refeeding syndrome-like metabolic disturbance in very low birth weight infants. The correlations of severe hypophosphatemia with the serum levels of potassium and ionized calcium, daily calorie and phosphate intake, and umbilical cord blood flow on ultrasonography were analyzed in 49 very low birth weight infants. Fifteen infants (36%) presented with hypophosphatemia during the first postnatal week. Hypophosphatemia was significantly associated with birth weight z score (odds ratio, 1.60; 95% confidence interval, 1.04-2.47; p = 0.034) and umbilical artery resistance index (odds ratio, 7.72 E -04; 95% confidence interval, 1.14 E -06-0.523; p = 0.031). Multiple regression analysis revealed that umbilical artery resistance index was independently associated with hypophosphatemia. Umbilical artery resistance index may serve as a useful marker for future development of refeeding syndrome-like hypophosphatemia in very low birth weight infants. Close monitoring of serum phosphorus and potassium levels and early intervention are important for the management of very low birth weight infants with intrauterine growth restriction due to placental dysfunction.

Risk Factors for the Development of Refeeding Syndrome-Like Hypophosphatemia in Very Low Birth Weight Infants

Directory of Open Access Journals (Sweden)

Aiko Igarashi

2017-01-01

Full Text Available Background. Refeeding syndrome is characterized by metabolic disturbance including hypophosphatemia and hypokalemia upon reinstitution of nutrition in severely malnourished patients. Objective. The present study sought to identify the risk factors for the development of refeeding syndrome-like metabolic disturbance in very low birth weight infants. Methods. The correlations of severe hypophosphatemia with the serum levels of potassium and ionized calcium, daily calorie and phosphate intake, and umbilical cord blood flow on ultrasonography were analyzed in 49 very low birth weight infants. Results. Fifteen infants (36% presented with hypophosphatemia during the first postnatal week. Hypophosphatemia was significantly associated with birth weight z score (odds ratio, 1.60; 95% confidence interval, 1.04–2.47; p=0.034 and umbilical artery resistance index (odds ratio, 7.72E−04; 95% confidence interval, 1.14E−06–0.523; p=0.031. Multiple regression analysis revealed that umbilical artery resistance index was independently associated with hypophosphatemia. Conclusions. Umbilical artery resistance index may serve as a useful marker for future development of refeeding syndrome-like hypophosphatemia in very low birth weight infants. Close monitoring of serum phosphorus and potassium levels and early intervention are important for the management of very low birth weight infants with intrauterine growth restriction due to placental dysfunction.

Otolaryngological aspects of sudden infant death syndrome.

Science.gov (United States)

Marom, Tal; Cinamon, Udi; Castellanos, Paul F; Cohen, Marta C

2012-03-01

Sudden infant death syndrome (SIDS) is characterized by the sudden death of an apparently otherwise healthy infant, typically during sleep, and with no obvious case after a thorough post-mortem and scene death examination. To address the problem from the otolaryngologist's perspective, describe relevant pathologies, discuss controversies and suggest preventive measures in high-risk populations. A MEDLINE search and hand search were conducted to identify reports published between 1969 and 2011 in the English language on the pathophysiology of SIDS related to the head and neck organs. Search terms included SIDS (MeSH term), SIDS and pathophysiology (text words), and SIDS and autopsy (text words). A growing number of reports suggested head and neck organs involvement in SIDS autopsies. Laryngeal, oropharyngeal, maxillofacial, otologic, cervical vascular abnormalities and infectious etiologies, were recognized and discussed. Otolaryngologists should be aware of relevant pathologies, as some are treatable, if identified early enough in infancy. A proactive risk-management approach is warranted in infants presenting with certain abnormalities reviewed here. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Echocardiographic findings in infants with presumed congenital Zika syndrome: Retrospective case series study

Science.gov (United States)

Santos, Cleusa C.; Feitosa, Fabiana G.; Ribeiro, Maria C.; Menge, Paulo; Lira, Izabelle M.

2017-01-01

Objective To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome. Methods An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital Zika syndrome. Zika IgM antibody was detected in cerebrospinal fluid samples of 23 infants. In 80 infants, the test was not performed because it was not available at that time. All infants had negative serology for HIV, syphilis, rubella, cytomegalovirus and toxoplasmosis. A complete transthoracic two-dimensional, M-mode, continuous wave and pulsed wave Doppler and color Doppler echocardiographic (PHILIPS HD11XE or HD15) examination was performed on all infants. Results 14/103 (13.5%) echocardiograms were compatible with congenital heart disease: 5 with an ostium secundum atrial septal defect, 8 had a hemodynamically insignificant small apical muscular ventricular septal defect and one infant with dyspnea had a large membranous ventricular septal defect. The echocardiograms considered normal included 45 infants with a persistent foramen ovale and 16 with a minimum patent ductus arteriosus. Conclusions Preliminarily this study suggests that congenital Zika syndrome may be associated with an increase prevalence of congenital heart disease. However the types of defects noted were septal defects, a proportion of which would not be hemodynamically significant. PMID:28426680

Echocardiographic findings in infants with presumed congenital Zika syndrome: Retrospective case series study.

Directory of Open Access Journals (Sweden)

Danielle Di Cavalcanti

Full Text Available To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome.An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP, Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital Zika syndrome. Zika IgM antibody was detected in cerebrospinal fluid samples of 23 infants. In 80 infants, the test was not performed because it was not available at that time. All infants had negative serology for HIV, syphilis, rubella, cytomegalovirus and toxoplasmosis. A complete transthoracic two-dimensional, M-mode, continuous wave and pulsed wave Doppler and color Doppler echocardiographic (PHILIPS HD11XE or HD15 examination was performed on all infants.14/103 (13.5% echocardiograms were compatible with congenital heart disease: 5 with an ostium secundum atrial septal defect, 8 had a hemodynamically insignificant small apical muscular ventricular septal defect and one infant with dyspnea had a large membranous ventricular septal defect. The echocardiograms considered normal included 45 infants with a persistent foramen ovale and 16 with a minimum patent ductus arteriosus.Preliminarily this study suggests that congenital Zika syndrome may be associated with an increase prevalence of congenital heart disease. However the types of defects noted were septal defects, a proportion of which would not be hemodynamically significant.

Congenital staphylococcal scalded skin syndrome in a premature infant

NARCIS (Netherlands)

Haveman, LM; Fleer, A; de Vries, LS; Gerards, LJ

2004-01-01

A case of congenital staphylococcal scalded skin syndrome (SSSS) with fatal outcome in a premature infant is reported. An intrauterine infection with Staphylococcus aureus was probably the cause for the fulminant course of the disease. Despite adequate antibiotic treatment, the infant died within 24

Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

Directory of Open Access Journals (Sweden)

Metwalley Kotb A

2008-10-01

Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

Acoustic parameters of infant-directed singing in mothers of infants with down syndrome.

Science.gov (United States)

de l'Etoile, Shannon; Behura, Samarth; Zopluoglu, Cengiz

2017-11-01

This study compared the acoustic parameters and degree of perceived warmth in two types of infant-directed (ID) songs - the lullaby and the playsong - between mothers of infants with Down syndrome (DS) and mothers of typically-developing (TD) infants. Participants included mothers of 15 DS infants and 15 TD infants between 3 and 9 months of age. Each mother's singing voice was digitally recorded while singing to her infant and subjected to feature extraction and data mining. Mothers of DS infants and TD infants sang both lullabies and playsongs with similar frequency. In comparison with mothers of TD infants, mothers of DS infants used a higher maximum pitch and more key changes during playsong. Mothers of DS infants also took more time to establish a rhythmic structure in their singing. These differences suggest mothers are sensitive to the attentional and arousal needs of their DS infants. Mothers of TD infants sang with a higher degree of perceived warmth which does not agree with previous observations of "forceful warmth" in mothers of DS infants. In comparison with lullaby, all mothers sang playsong with higher overall pitch and slower tempo. Playsongs were also distinguished by higher levels of spectral centroid properties related to emotional expressivity, as well as higher degrees of perceived warmth. These similarities help to define specific song types, and suggest that all mothers sing in an expressive manner that can modulate infant arousal, including mothers of DS infants. Copyright © 2017 Elsevier Inc. All rights reserved.

How Do Object Size and Rigidity Affect Reaching and Grasping in Infants with Down Syndrome?

Science.gov (United States)

de Campos, Ana Carolina; Francisco, Kelly Regina; Savelsbergh, Geert J. P.; Rocha, Nelci Adriana Cicuto Ferreira

2011-01-01

Reaching and grasping skills have been described to emerge from a dynamic interaction between intrinsic and extrinsic factors. The purpose of the present study was to investigate the interaction between such an intrinsic factor, Down syndrome, and extrinsic factors, such as different object properties. Seven infants with Down syndrome and seven…

Hyper-immunoglobulin D syndrome with novel mutations in an afebrile infant.

Science.gov (United States)

Cadmus, Simi D; Green, Reid; Carrasco, Ruy; Levy, Moise L; Diaz, Lucia Z

2018-03-30

Hyper-immunoglobulin D syndrome is a rare autosomal-recessive autoinflammatory syndrome in which a mevalonate kinase deficiency results due to mutations of the mevalonate kinase gene. We report a case of an Asian male infant who was found to have hyper-immunoglobulin D syndrome in the absence of fever. His skin manifestations included cephalic pustulosis as well recurrent transient and fixed pink plaques and nodules on the face and extremities. Subsequent examination revealed hyper-immunoglobulin D syndrome with two novel allelic mutations in the mevalonate kinase gene: c.895G > A (p.D299N) and c.1168C > T (p.Q390). It is important for dermatologists to recognize the varied cutaneous presentations of hyper-immunoglobulin D syndrome because rapid diagnosis and treatment can significantly affect outcomes. © 2018 Wiley Periodicals, Inc.

Prolonged Ileus in an Infant Presenting with Primary Congenital Hypothyroidism

Directory of Open Access Journals (Sweden)

Caroline Chua

2015-01-01

Full Text Available Congenital hypothyroidism (CH is the most common endocrine disorder affecting the newborn. Universal newborn screening (NBS has virtually eliminated the static encephalopathy and devastating neurodevelopmental syndrome known as cretinism. This report describes the presentation of an infant referred by the primary pediatrician to our hospital at 12 days of age for confirmatory testing after the NBS was consistent with CH. The infant had hypoglycemia secondary to lethargy and poor feeding and required transfer to the neonatal intensive care unit for worsening abdominal distension despite normalization of serum thyroid function tests following hormone replacement. In particular, the recalcitrant ileus and secondary bowel obstruction resulted in an additional diagnostic workup and lengthened hospital day. Our report highlights the acute gastrointestinal consequences of hypothyroidism despite evidence of effective treatment. We believe that the preclinical detection and immediate therapy for CH have lessened the prevalence of this presentation in general practice, and hence practitioners are less likely to be familiar with its natural history and management.

On the Question of the Diagnosis of Sudden Infant Death Syndrome

Directory of Open Access Journals (Sweden)

L. L. Nisevich

2015-01-01

Full Text Available Sudden Infant Death Syndrome (SIDS is one of the leading causes of postneonatal mortality of infants in most developed countries. This paper presents data on terminology and on the study of SIDS in developed countries, and also examines problems of SIDS diagnostic inRussia in comparison with the results of own researches, analyzes risk factors, which are universal as for SIDS, and also for perinatal and infant death in general. The large variability of SIDS diagnosis in Russia suggests that this diagnosis often does not comply with international standard: post-mortem examination of community-acquired sudden death cases is often carried out by a forensic expert, but not by a children's pathologist, and they do not use virological and microbiological methods of investigation. In some cases, there is no infant's record or case record from children's polyclinic.

99Tcm-MIBI hepatobiliary scintigraphy in peadiatric patients with severe cholestatic infant hepatitis syndrome

International Nuclear Information System (INIS)

Chen Guibing; Huang Jinxiong; He Xiaojiang; Luo Zuoming; Lu Zhengyuan; Wu Hua

2010-01-01

Objective: Because of the limited of 99 Tc m -diethyl iminodiacetic acid ( 99 Tc m -EHIDA) hepatobiliary scintigraphy in the diagnosis of severe cholestatic infant hepatitis syndrome, trial use 99 Tc m -methoxy isobutyl isonitrile ( 99 Tc m -MIBI) as a new hepatobiliary scintigraphy imaging agent to understand its applied basis and primary evaluate value in diagnosis of severe cholestatic infant hepatitis syndrome. Methods: constructed choledochal atresia animal model and investigated the application basis of 99 Tc m -MIBI hepatobiliary scintigraphy. Twenty-seven children patients of severe cholestatic who finally confirmed infant hepatitis syndrome were underwent firstly 99 Tc m -EHIDIA hepatobiliary scintigraphy. After 24 h delay imaging next day, 99 Tc m -MIBI hepatobiliary scintigraphy was underwent after 1 h. Two imaging agents of value in the diagnosis of severe cholestatic infant hepatitis syndrome were compared. Results: It was proved that 99 Tc m -MIBI was surely excreted by hepatobiliary and had no intestinal autocrine phenomenon in animal test. So 99 Tc m -MIBI can be used to undergo hepatobiliary scintigraphy. The sensitivity of 99 Tc m -MIBI hepatobiliary scintigraphy in the diagnosis of severe cholestatic infant hepatitis syndrome was 100% in our primary clinical study. Its sensitivity was higher than which of 99 Tc m -EHIDA hepatobiliary scintigraphy (66.67%) by far. Conclusion: With regard to those children patients who suspected highly severe cholestatic infant hepatitis syndrome in clinical, the sensitivity of 99 Tc m -MIBI hepatobiliary scintigraphy is obviously superior to conventional 99 Tc m -EHIDA hepatobiliary scintigraphy. (authors)

Audio-visual speech perception in infants and toddlers with Down syndrome, fragile X syndrome, and Williams syndrome.

Science.gov (United States)

D'Souza, Dean; D'Souza, Hana; Johnson, Mark H; Karmiloff-Smith, Annette

2016-08-01

Typically-developing (TD) infants can construct unified cross-modal percepts, such as a speaking face, by integrating auditory-visual (AV) information. This skill is a key building block upon which higher-level skills, such as word learning, are built. Because word learning is seriously delayed in most children with neurodevelopmental disorders, we assessed the hypothesis that this delay partly results from a deficit in integrating AV speech cues. AV speech integration has rarely been investigated in neurodevelopmental disorders, and never previously in infants. We probed for the McGurk effect, which occurs when the auditory component of one sound (/ba/) is paired with the visual component of another sound (/ga/), leading to the perception of an illusory third sound (/da/ or /tha/). We measured AV integration in 95 infants/toddlers with Down, fragile X, or Williams syndrome, whom we matched on Chronological and Mental Age to 25 TD infants. We also assessed a more basic AV perceptual ability: sensitivity to matching vs. mismatching AV speech stimuli. Infants with Williams syndrome failed to demonstrate a McGurk effect, indicating poor AV speech integration. Moreover, while the TD children discriminated between matching and mismatching AV stimuli, none of the other groups did, hinting at a basic deficit or delay in AV speech processing, which is likely to constrain subsequent language development. Copyright © 2016 Elsevier Inc. All rights reserved.

Transient abnormal myelopoesis in an infant with Down syndrome

African Journals Online (AJOL)

2010-01-13

Jan 13, 2010 ... syndrome and trisomy 21 mosaicism (1). The majorities of infants with TAM are asymptomatic and picked up incidentally on routine testing. Most cases of TAM resolve over the first few months of life, but 13Á33% may go on to develop AML within the first four years of life. Neonates with Down syndrome are ...

Febrile convulsions and sudden infant death syndrome

DEFF Research Database (Denmark)

Vestergaard, Mogens; Basso, Olga; Henriksen, Tine Brink

2002-01-01

It has been suggested that sudden infant death syndrome (SIDS) and febrile convulsions are related aetiologically. We compared the risk of SIDS in 9877 siblings of children who had had febrile convulsions with that of 20.177 siblings of children who had never had febrile convulsions. We found...

Juvenile polyposis syndrome: An unusual case report of anemia and gastrointestinal bleeding in young infant.

Science.gov (United States)

Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

2016-09-01

Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially. Panendoscopy and abdominal computed tomography showed multiple polyposis throughout the entire alimentary tract leading to intussusception. Technetium-99m-labeled red blood cell (RBC) bleeding scan revealed the possibility of gastrointestinal tract bleeding in the jejunum. Histopathological examination on biopsy samples showed Peutz-Jeghers syndrome was excluded, whereas the diagnosis of juvenile polyposis syndrome was established. Enteroscopic polypectomy is the mainstay of the treatment. However, polyps recurred and occupied the majority of the gastrointestinal tract in 6 months. Supportive management was given. The patient expired for severe sepsis at the age of 18 months. Juvenile polyposis syndrome is an inherited disease, so it is not possible to prevent it. Concerning of its poor outcome and high mortality rate, it is important that we should increase awareness and education of the parents at its earliest stages.

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

NARCIS (Netherlands)

Bellini, Carlo; Mazzella, Massimo; Arioni, Cesare; Campisi, Corradino; Taddei, Gioconda; Tomà, Paolo; Boccardo, Francesco; Hennekam, Raoul C.; Serra, Giovanni

2003-01-01

We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary

HYPERTROPHIC CARDIOMYOPATHY AS A PART OF INHERITED MALFORMATION SYNDROMES IN INFANTS

Directory of Open Access Journals (Sweden)

M.V. Tural'chuk

2011-01-01

Full Text Available The data of clinical and instrumental examination of two infantile patients with obstructive hypertrophic cardiomyopathy in association with marked multisystem involvement as a picture of inherited malformation syndromes are given.Key words: infants, hypertrophic cardiomyopathy, LEOPARD syndrome, Noonan syndrome.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2011; 10 (3: 166–169

Brief Report: Autism Symptoms in Infants with Fragile X Syndrome

Science.gov (United States)

Roberts, Jane E.; Tonnsen, Bridgette L.; McCary, Lindsay M.; Caravella, Kelly E.; Shinkareva, Svetlana V.

2016-01-01

Fragile X syndrome (FXS) is the most common known genetic cause of autism spectrum disorder (ASD). Although 50-75% of children with FXS meet ASD criteria, no studies have compared ASD symptoms in infants with FXS versus other high risk groups, such as siblings of children with ASD (ASIBs). Using the Autism Observation Scale for Infants, our…

The development of perceptual grouping in infants with Williams syndrome

OpenAIRE

Farran, E. K.; Brown, J. H.; Cole, V. L.; Houston-Price, C.; Karmiloff-Smith, A.

2007-01-01

Perceptual grouping by luminance similarity and by proximity was investigated in infants with Williams syndrome (WS) aged between 6 and 36 months (visit 1, N=29). WS infants who were still under 36 months old, 8 months later, repeated the testing procedure (visit 2, N=15). Performance was compared to typically developing (TD) infants aged from 2 to 20 months (N=63). Consistent with the literature, TD participants showed grouping by luminance at the youngest testing age, 2 months. Grouping by ...

Accelerated development of object permanence in Down's syndrome infants.

Science.gov (United States)

Pasnak, C F; Pasnak, R

1987-01-01

Six infants with Down's syndrome, aged 3-19 months, were taught to solve object permanence problems. The instruction took place in the infants' homes and in a child development centre, and was conducted both by parents and by a child psychologist. Object permanence tasks ranging over stages 3-6 of the sensorimotor period of intelligence were utilized in the intervention, which lasted for up to 8 months. The infants were able to progress rather rapidly on these tasks. When the instruction was terminated most had mastered multiple visible displacements, which index the fifth stage of sensorimotor intelligence.

Infants with Down Syndrome: Percentage and Age for Acquisition of Gross Motor Skills

Science.gov (United States)

Pereira, Karina; Basso, Renata Pedrolongo; Lindquist, Ana Raquel Rodrigues; da Silva, Louise Gracelli Pereira; Tudella, Eloisa

2013-01-01

The literature is bereft of information about the age at which infants with Down syndrome (DS) acquire motor skills and the percentage of infants that do so by the age of 12 months. Therefore, it is necessary to identify the difference in age, in relation to typical infants, at which motor skills were acquired and the percentage of infants with DS…

The Whiplash Shaken Infant Syndrome: Has Caffey's Syndrome Changed or Have We Changed His Syndrome?.

Science.gov (United States)

Lazoritz, Stephen; Baldwin, Sandra; Kini, Narendra

1997-01-01

This study examined recent literature describing the Shaken Infant Syndrome and compared it to John Caffey's original descriptions in 1946. Retrospective evaluation of 71 recent cases and 27 case examples offered by Caffey was also performed. Results indicated the recent cases more likely to involve impact trauma, male perpetrators, and admission…

Severe Food Protein-Induced Enterocolitis Syndrome to Cow’s Milk in Infants

Directory of Open Access Journals (Sweden)

Min Yang

2015-12-01

Full Text Available Cow’s milk is the most common cause of food-protein-induced enterocolitis syndrome (FPIES. The aim of this study was to examine the clinical features and treatment outcomes of infants with severe FPIES to cow’s milk. We reviewed all infants ≤12 months of age who were hospitalized and diagnosed with severe FPIES to cow’s milk between 1 January 2011 and 31 August 2014 in a tertiary Children’s Medical Center in China. Patients’ clinical features, feeding patterns, laboratory tests, and treatment outcomes were reviewed. A total of 12 infants met the inclusion criteria. All infants presented with diarrhea, edema, and hypoalbuminemia. Other main clinical manifestations included regurgitation/vomiting, skin rashes, low-grade fever, bloody and/or mucous stools, abdominal distention, and failure to thrive. They had clinical remission with resolution of diarrhea and significant increase of serum albumin after elimination of cow’s milk protein (CMP from the diet. The majority of infants developed tolerance to the CMP challenge test after 12 months of avoidance. In conclusion, we reported the clinical experience of 12 infants with severe FPIES to cow’s milk, which resulted in malnutrition, hypoproteinemia, and failure to thrive. Prompt treatment with CMP-free formula is effective and leads to clinical remission of FPIES in infants.

Dummy (pacifier) use and sudden infant death syndrome: Potential advantages and disadvantages

NARCIS (Netherlands)

Horne, R.S.C.; Moon, R.Y; L'Hoir, M.P.; Blair, P.S.

2014-01-01

The large decline in deaths due to the sudden infant death syndrome (SIDS) in the last 20 years in many countries is largely due to risk-reduction advice resulting from observational studies that examined the relationship between infant care practices and SIDS. Most of this advice remains largely

Early social communication in infants with fragile X syndrome and infant siblings of children with autism spectrum disorder.

Science.gov (United States)

Hahn, Laura J; Brady, Nancy C; McCary, Lindsay; Rague, Lisa; Roberts, Jane E

2017-12-01

Little research in fragile X syndrome (FXS) has prospectively examined early social communication. To compare early social communication in infants with FXS, infant siblings of children with autism spectrum disorder (ASIBs), and typically developing (TD) infants. Participants were 18 infants with FXS, 21 ASIBs, and 22 TD infants between 7.5-14.5 months. Social communication was coded using the Communication Complexity Scale during the administration of Autism Observation Scale for Infants. Descriptively different patterns were seen across the three groups. Overall infants with FXS had lower social communication than ASIBs or TD infants when controlling for nonverbal cognitive abilities. However, infants with FXS had similar levels of social communication as ASIBs or TD infants during peek-a-boo. No differences were observed between ASIBs and TD infants. For all infants, higher social communication was related to lower ASD risk. Findings provide insight into the developmental course of social communication in FXS. The dynamic nature of social games may help to stimulate communication in infants with FXS. Language interventions with a strong social component may be particularly effective for promoting language development in FXS. Copyright © 2017 Elsevier Ltd. All rights reserved.

Environmental risk factors for sudden infant death syndrome in Japan.

Science.gov (United States)

Hirabayashi, Masako; Yoshinaga, Masao; Nomura, Yuichi; Ushinohama, Hiroya; Sato, Seiichi; Tauchi, Nobuo; Horigome, Hitoshi; Takahashi, Hideto; Sumitomo, Naokata; Shiraishi, Hirohiko; Nagashima, Masami

2016-12-01

While the prevalence of sudden infant death syndrome (SIDS) has decreased worldwide, this decline has plateaued recently. Strategies are needed to resume the constant decrease of SIDS in Japan. A prospective electrocardiographic screening program for infants was performed between July 2010 and March 2011. Parents of 4319 infants were asked about environmental factors related to SIDS through questionnaires at a one-month medical checkup and one year. Parental awareness of prone position, smoke exposure, and breast feeding as environmental factors were 81.4 %, 69.0 %, and 47.8 %, respectively. The prevalence of laying infants exclusively in a supine position was 96.7 %. At the one-month medical checkup, smoking prevalence was 41.7 % in fathers and 2.1 % in mothers. Maternal smoking prevalence was significantly increased at one year after (p Japan. Smoking cessation programs should be further implemented for parents to decrease risks of SIDS in Japan. What is Known: • The prevalence of sudden infant death syndrome (SIDS) has decreased worldwide, however, this decline has plateaued recently. What is New: • Most infants were laid sleeping in the supine position (96.7 %) and were fed breast milk or a mix of expressed milk and formula (92.7 %), and 2.1 % of mothers smoked at the one-month medical checkup. • Maternal smoking prevalence significantly increased from the one-month medical checkup to one year later, and smoking mothers were more likely to feed infants by formula rather than breast milk. • Independent risk factors for new or continued maternal smoking habits included younger maternal age, maternal smoking habits at one month, and paternal smoking habits one year later.

Leptomeningeal neurons are a common finding in infants and are increased in sudden infant death syndrome

NARCIS (Netherlands)

Rickert, Christian H.; Gross, Oliver; Nolte, Kay W.; Vennemann, Mechtild; Bajanowski, Thomas; Brinkmann, Bernd

Developmental abnormalities of the brain, in particular, the brainstem potentially affecting centers for breathing, circulation and sleep regulation, are thought to be involved in the etiology of sudden infant death syndrome (SIDS). In order to investigate whether leptomeningeal neurons could serve

[Cytomegalovirus: congenital infection and clinical presentation in infants with respiratory distress syndrome].

Science.gov (United States)

Martínez-Contreras, Angélica; Lira, Rosalía; Soria-Rodríguez, Carmen; Hori-Oshima, Sawako; Maldonado-Rodríguez, Angélica; Rojas-Montes, Othón; Ayala-Figueroa, Rafael; Estrada-Guzmán, Julia; Álvarez-Muñoz, Ma Teresa

2015-01-01

Respiratory distress syndrome (RDS) is a multifactorial and common disease that varies from 15 to 50 % in the newborn, causing 50 % of mortality. The RDS may be associated with bacterial and viral infections, and one of the most common viral agents is the cytomegalovirus (CMV). In the neonatal period the virus incidence goes from 0.4 to 2.5 % with a seroprevalence of 50 to 75 %; the incidence of infection in newborn with RDS is unknown. The objective was to determine the frequency of CMV infection in neonates with RDS and identify the risk factors associated with infection. The CMV-DNA was identified in plasma by quantitative PCR; maternal and neonatal variables that defined the clinical findings were analyzed by logistic regression.The CMV-DNA was identified in plasma by quantitative PCR; maternal and neonatal variables that defined the clinical findings were analyzed by logistic regression. The frequency of CMV infection in 197 infants with RDS was 8.6 % (95 % CI, 4.7-12.5). The significant variables in newborn were: neutropenia (p = 0.012), thrombocytopenia (p = 0.021), mottled skin (p = 0.03), and the maternal significant variable was cervicovaginitis (p = 0.05). We reported for the first time the highest frecuency of CMV infection in newborns with RDS and the association of various risk factors with CMV infection.

Sudden infant death syndrome (SIDS, substance misuse, and smoking in pregnancy

Directory of Open Access Journals (Sweden)

Ali K

2012-10-01

Full Text Available Kamal Ali, Na’eem Ahmed, Anne GreenoughDivision of Asthma, Allergy, and Lung Biology, Medical Research Council and Asthma UK Center in Allergic Mechanisms of Asthma, King’s College Hospital, London, United KingdomAbstract: In the developed world, sudden infant death syndrome (SIDS remains the leading cause of death in the post neonatal period. This review highlights the association between maternal substance misuse and SIDS, and discusses whether the increased risk is explained by abnormalities of respiratory control. Substance misuse during pregnancy is common, and although the incidence of smoking has declined in recent years among pregnant women, an increasing proportion of mothers of infants who have died of SIDS smoke. The risk of SIDS is increased in women who take opiates, but not cocaine or marijuana, although infants exposed to either of these drugs suffer morbidity, including reduced birth weight. Nicotine exposure increases the risk of SIDS, particularly if both parents smoke, and there is a dose-dependent effect. A variety of respiratory abnormalities have been described in the infants of substance abuse mothers, which may increase their risk of SIDS. These abnormalities include a reduced ability to recover from prolonged apnea and a blunted response to hypoxia and hypercarbia. These results are consistent with postmortem brainstem abnormalities reported among SIDS victims.Keywords: sudden infant death syndrome, nicotine, opiates

Hypoplastic left heart syndrome and pulmonary veno-occlusive disease in an infant.

Science.gov (United States)

D'Souza, Marise; Vergales, Jeffrey; Jayakumar, K Anitha

2013-01-01

This report describes an infant with heterotaxy syndrome and severe hypoplasia of the left heart who presented with profound cyanosis at birth despite a large patent ductus arteriosus. Pulmonary venous return was difficult to demonstrate by echocardiography. Angiography showed total anomalous pulmonary venous return via a plexus that drained through the paravertebral veins and bilateral superior vena cavae. Autopsy confirmed these findings, and histopathology demonstrated severe occlusive changes within the pulmonary veins.

Unilateral facial palsy in an infant: an unusual presentation of familial multiple cerebral cavernous malformation.

LENUS (Irish Health Repository)

Zakaria, Zaitun

2012-01-01

Cerebral cavernous malformation (CCM) in infants tends to have genetic predisposition. These cavernomas have a progressive course of events and associated neurological symptoms with increase in age. They most commonly present with seizure and syndrome of increased intracranial pressure comprising of headache, vomiting and focal neurological signs. We describe a case of a 7-month-old infant who presented with an acute onset of right facial paralysis with a background of familial CCM. The CT and MRI scan revealed fresh haemorrhage in the right cerebellar and pontine cavernomas with surrounding oedema and no evidence of obstructive hydrocephalus. These two cavernomas re-bled in a week duration causing episodes of incessant crying and irritability. After discussing the pros and cons of treatment, owing to stable clinical status, the patient is currently been managed conservatively.

Repair of an aneurysm of the ascending aorta and arch in an infant with Loeys-Dietz syndrome.

Science.gov (United States)

Jaiswal, Pratiksha; Shetty, Varun; Patel, Ebrahim; Shetty, Deviprasad

2018-05-01

Aortic aneurysms in childhood are rare disease entities and are usually seen in patients with genetic connective tissue disorders such as Marfans, Ehler-Danlos, and Loeys-Dietz syndrome (LDS). Patients affected with LDS present early in life and have a rapid disease progression. We report a case of repair of an ascending and aortic arch aneurysm in an infant with Loeys-Dietz syndrome. © 2018 Wiley Periodicals, Inc.

Case of clinical Reye syndrome presenting characteristic CT changes

Energy Technology Data Exchange (ETDEWEB)

Hino, Tamaki; Sai, Hoshun; Morikawa, Yuji; Mizuta, Ryuzo [Kyoto Second Red Cross Hospital (Japan); Okuno, Takehiko

1984-05-01

A 9-month-old male infant was admitted to our hospital on the second day of cold like syndrome because of high fever, convulsion, coma, and decerebrate rigidity. Serum GOT, GPT, LDH, and CPK were markedly elevated. Serum ammonia was slightly increased, and hypoglycemia was present. The cerebrospinal fluid showed no pleocytosis, normal sugar content, but increased protein. Thus we made a diagnosis of clinical Reye syndrome according to the criteria by Yamashita, et al. A CT on the day of admission showed symmetrical low-density areas in the posterior fossa and the regions of thalamus. Ringed enhancements were seen around the areas of low density in the thalamus on the twenty-second hospital day. We consider that these lesions may represent the infarction due to obstruction of the thalamoperforant arteries caused by cerebral edema in the early stage of the disease.

AN AUDIT OF THE SUDDEN-INFANT-DEATH-SYNDROME PREVENTION PROGRAM IN THE AUCKLAND REGION

NARCIS (Netherlands)

Obdeijn, M. C.; Tonkin, S.; Mitchell, E. A.

1995-01-01

Aim. An audit of the sudden infant death syndrome (SIDS) prevention programme in the Auckland region. Methods. 107 health professionals working in antenatal classes, postnatal wards, domiciliary midwifery and the Plunket Society were interviewed. Results. Maternal smoking and infant sleeping

Volvulus in term and preterm infants - clinical presentation and outcome.

Science.gov (United States)

Horsch, Sandra; Albayrak, Bilge; Tröbs, Ralf-Bodo; Roll, Claudia

2016-06-01

Our aim was to assess if term and preterm infants with volvulus showed different patterns with regard to pathogenesis, clinical presentation and outcome. We reviewed the medical records and imaging data of infants aged less than six months with volvulus treated in a single surgical referral centre from 2006-2013. Volvulus was diagnosed in 19 infants, with no anatomical anomaly in three of the 12 preterm infants and one of the seven term infants. Most cases (74%) presented during the first eight days of life. Later presentations occurred exclusively in preterm infants, with only one of the five having no anatomic anomalies. Bilious vomiting was the leading symptom in six of the seven term infants, while the symptoms in preterm infants were rather nonspecific. Intestinal necrosis, with the need for bowel resection, occurred in one term (14%) infant and nine (75%) preterm infants. The clinical presentation and outcome of volvulus differed between preterm and term infants, but the rate and distribution of underlying anomalies did not differ. Symptoms in preterm infants were often nonspecific and led to a delay in diagnosis. This might have contributed to the higher rate of intestinal necrosis in preterm infants. ©2016 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Bubble CPAP for respiratory distress syndrome in preterm infants.

Science.gov (United States)

Koti, Jagdish; Murki, Srinivas; Gaddam, Pramod; Reddy, Anupama; Reddy, M Dasaradha Rami

2010-02-01

To ascertain the immediate outcome of preterm infants with respiratory distress syndrome (RDS) on Bubble CPAP and identify risk factors associated with its failure. Prospective analytical study. Inborn preterm infants (gestation 28 to 34 weeks) admitted to the NICU with respiratory distress and chest X ray suggestive of RDS. Bubble CPAP with bi-nasal prongs. CPAP failures infants requiring ventilation in the first one week. 56 neonates were enrolled in the study. 14 (25%) babies failed CPAP. The predictors of failure were; no or only partial exposure to antenatal steroids, white-out on the chest X-ray, patent ductus arteriosus, sepsis/pneumonia and Downes score > 7 or FiO2 > or = 50% after 15-20 minutes of CPAP. Other maternal and neonatal variables did not influence the need for ventilation. Rates of mortality and duration of oxygen requirement was significantly higher in babies who failed CPAP. Only two infants developed pneumothorax. No baby had chronic lung disease. Infants with no or partial exposure to antenatal steroids, white-out chest X-ray, patent ductus arteriosus, sepsis/pneumonia and those with higher FiO2 requirement after initial stabilization on CPAP are at high risk of CPAP failure (needing mechanical ventilation). Bubble CPAP is safe for preterm infants with RDS.

Prune belly syndrome in an Egyptian infant with Down syndrome: a case report.

Science.gov (United States)

Metwalley, Kotb A; Farghalley, Hekma S; Abd-Elsayed, Alaa A

2008-10-02

Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 mumol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

Behavior of Mothers and Infants with and without Down Syndrome during the Still-Face Procedure

Science.gov (United States)

Moore, Derek G.; Oates, John M.; Goodwin, Julia; Hobson, R. Peter

2008-01-01

There has been limited study of how the constitutional characteristics of infants with Down syndrome (DS) influence the patterning of their relations with caregivers. To assess natural and perturbed interactions between infants with DS and their mothers, we tested ten 6-month-old infants with DS and 20 typically developing (TD) 4-month-old of…

Conditioning and Long-Term Memory in Three-Month-Old Infants with Down Syndrome.

Science.gov (United States)

Ohr, Phyllis, S.; Fagen, Jeffrey W.

1991-01-01

This study of 20 3-month-old infants with Down's syndrome and 20 nondisabled infants found that both groups were successfully trained to produce movement in an overhead crib mobile by kicking, and displayed long-term retention a week later. Conditioning and retention-test performance of the two groups did not differ. (Author/JDD)

Treadmill training of infants with Down syndrome: evidence-based developmental outcomes.

Science.gov (United States)

Ulrich, D A; Ulrich, B D; Angulo-Kinzler, R M; Yun, J

2001-11-01

On average, infants with Down syndrome (DS) learn to walk about 1 year later than nondisabled (ND) infants. The purpose of this study was to determine if practice stepping on a motorized treadmill could help reduce the delay in walking onset normally experienced by these infants. Thirty families of infants with DS were randomly assigned to the intervention or control group. All infants were karyotyped trisomy 21 and began participation in the study when they could sit alone for 30 seconds (Bayley Scales of Infant Development, Second Edition 1993, item 34). Infants received traditional physical therapy at least every other week. In addition, intervention infants received practice stepping on a small, motorized treadmill, 5 days per week, for 8 minutes a day, in their own homes. Parents were trained to support their infants on these specially engineered miniature treadmills. Every 2 weeks research staff went into the homes and tested infants' overall motor progress by administering the Bayley Scales of Infant Development, Second Edition, monitored growth status via a battery of 11 anthropometric measures, and checked parents' compliance with physical therapy and treadmill intervention. The primary measures of the intervention's effectiveness were comparisons between the groups on the length of time elapsed between sitting for 30 seconds (entry into the study) and 1) raising self to stand; 2) walking with help; and 3) walking independently. The experimental group learned to walk with help and to walk independently significantly faster (73.8 days and 101 days, respectively) than the control group, both of which also produced large effect size statistics for the group differences. The groups were not statistically different for rate of learning to raise self to stand but there was a moderate effect size statistic suggesting that the groups were meaningfully different in favor of the experimental group. These results provide evidence that, with training and support

A surviving infant with sirenomelia (Mermaid syndrome) associated with absent bladder.

Science.gov (United States)

Stanton, Michael P; Penington, Elizabeth C; Hutson, John M

2003-08-01

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 abnormal distal aorta shown in this case supports the theory that sirenomelia is an extreme form of caudal dysgenesis rather than occurring secondary to vascular steal.

A seizuring alagille syndrome

Directory of Open Access Journals (Sweden)

Jomon Mathew John

2017-01-01

Full Text Available Alagille syndrome is a rare autosomal dominant inherited disorder with incidence of one in 100,000 live births. This syndrome with seizure as a presentation has been rarely reported in Indian studies. We present a 3-month-old infant who presented to us with seizures was found to have a dysmorphic face, jaundice, hepatomegaly, and soft systolic murmur. Infant was stabilized and remained seizure free. A detailed clinical evaluation of a common presentation may reveal a rare syndrome.

Cardiac muscarinic receptor overexpression in sudden infant death syndrome.

Directory of Open Access Journals (Sweden)

Angelo Livolsi

Full Text Available BACKGROUND: Sudden infant death syndrome (SIDS remains the leading cause of death among infants less than 1 year of age. Disturbed expression of some neurotransmitters and their receptors has been shown in the central nervous system of SIDS victims but no biological abnormality of the peripheral vago-cardiac system has been demonstrated to date. The present study aimed to seek vago-cardiac abnormalities in SIDS victims. The cardiac level of expression of muscarinic receptors, as well as acetylcholinesterase enzyme activity were investigated. METHODOLOGY/PRINCIPAL FINDINGS: Left ventricular samples and blood samples were obtained from autopsies of SIDS and children deceased from non cardiac causes. Binding experiments performed with [(3H]NMS, a selective muscarinic ligand, in cardiac membrane preparations showed that the density of cardiac muscarinic receptors was increased as shown by a more than doubled B(max value in SIDS (n = 9 SIDS versus 8 controls. On average, the erythrocyte acetylcholinesterase enzyme activity was also significantly increased (n = 9 SIDS versus 11 controls. CONCLUSIONS: In the present study, it has been shown for the first time that cardiac muscarinic receptor overexpression is associated with SIDS. The increase of acetylcholinesterase enzyme activity appears as a possible regulatory mechanism.

Multiple fractures in infants who have Ehlers-Danlos/hypermobility syndrome and or vitamin D deficiency: A case series of 72 infants whose parents were accused of child abuse and neglect

Science.gov (United States)

Hossein-Nezhad, A.; Tabatabaei, F.

2017-01-01

ABSTRACT Objective: To increase the level of awareness that Ehlers-Danlos/hypermobility syndrome (EDS) and vitamin D deficiency are associated with infantile fragility fractures and radiologic features that may be mistakenly reported to be caused by non-accidental trauma due to Child Abuse and Neglect (CAN). Patients and Methods: We constructed a case series, the largest to date, of infants with EDS who were vitamin D sufficient, insufficient and deficient and infants without EDS but with documented vitamin D deficiency and radiologic evidence of rickets who presented with multiple fractures originally diagnosed as being non-accidental and caused by child abuse. These infants were referred to the outpatient Bone Health Care Clinic at Boston University Medical Campus over a 6-year (2010–2015) period. We also present 6 index cases in which the court concluded that there was no convincing evidence of child abuse and the infants were returned to their parents. Institutional Review Board (IRB) approval was obtained. Results: We present 72 cases of infants with multiple fractures diagnosed to be caused by non-accidental trauma. All infants were younger than one year of age. Among them, 93%(67) had clinical evidence of EDS and/or a family history with a confirmed clinical diagnosis of at least one parent having EDS and the other 7%(5) without evidence of EDS had vitamin D deficiency/infantile rickets. Three of the EDS infants were diagnosed as osteogenesis imperfecta (OI)/EDS overlap syndrome. The most common fractures noted at diagnosis were ribs and extremity fractures (including classic metaphyseal lesions). Serum levels of 25-hydroxyvitamin D [25(OH)D] were reported in 48 infants (18.0 ± 8.5 ng/ml) and in 30 mothers (21.3 ± 11.7 ng/ml). Sixty-three percent (27) of the EDS infants who had their serum 25(OH)D measured were vitamin D deficient 25(OH)D30 ng/ml. The mean serum level for infants with vitamin D deficiency/rickets was (10.2 ± 3.0 ng/ml) Conclusion: EDS

Treatment with exogenous surfactant stimulates endogenous surfactant synthesis in premature infants with respiratory distress syndrome

NARCIS (Netherlands)

Bunt, JEH; Carnielli, VP; Janssen, DJ; Wattimena, JLD; Hop, WC; Sauer, PJ; Zimmermann, LJI

2000-01-01

Objective: Treatment of preterm infants with respiratory distress syndrome (RDS) with exogenous surfactant has greatly improved clinical outcome. Some infants require multiple doses, and it has not been studied whether these large amounts of exogenous surfactant disturb endogenous surfactant

Cushing Syndrome in a 6-Month-Old Infant due to Adrenocortical Tumor

Directory of Open Access Journals (Sweden)

Volmar KeithE

2009-09-01

Full Text Available Cushing syndrome is rare in infancy and usually due to an adrenocortical tumor (ACT. We report an infant with Cushing syndrome due to adrenocortical carcinoma. The patient presented at six months of age with a three-month history of growth failure, rapid weight gain, acne, and irritability. Physical examination showed obesity, hypertension, and Cushingoid features. Biochemical evaluation showed very high serum cortisol, mildly elevated testosterone, and suppressed ACTH. Abdominal MRI revealed a heterogeneous right adrenal mass extending into the inferior vena cava. Evaluation for metastases was negative. The tumor was removed surgically en bloc. Pathologic examination demonstrated low mitotic rate, but capsular and vascular invasion. She received no adjuvant therapy. Her linear growth has improved and Cushingoid features resolved. Hormonal markers and quarterly PET scans have been negative for recurrence 24 months postoperatively. In conclusion, adrenocortical neoplasms in children are rare, but should be considered in the differential diagnosis of Cushing syndrome.

A case of clinical Reye syndrome presenting characteristic CT changes

International Nuclear Information System (INIS)

Hino, Tamaki; Sai, Hoshun; Morikawa, Yuji; Mizuta, Ryuzo; Okuno, Takehiko.

1984-01-01

A 9-month-old male infant was admitted to our hospital on the second day of cold like syndrome because of high fever, convulsion, coma, and decerebrate rigidity. Serum GOT, GPT, LDH, and CPK were markedly elevated. Serum ammonia was slightly increased, and hypoglycemia was present. The cerebrospinal fluid showed no pleocytosis, normal sugar content, but increased protein. Thus we made a diagnosis of clinical Reye syndrome according to the criteria by Yamashita, et al. A CT on the day of admission showed symmetrical low-density areas in the posterior fossa and the regions of thalamus. Ringed enhancements were seen around the areas of low density in the thalamus on the twenty-second hospital day. We consider that these lesions may represent the infarction due to obstruction of the thalamoperforant arteries caused by cerebral edema in the early stage of the disease. (author)

Palivizumab use in infants with Down syndrome-report from the German Synagis™ Registry 2009-2016.

Science.gov (United States)

Simon, Arne; Gehrmann, Susanne; Wagenpfeil, Gudrun; Wagenpfeil, Stefan

2018-06-01

Infants with Down syndrome (DS) face an increased risk of respiratory tract infections. Recent studies describe DS as independent risk factor for a complicated clinical course in infants with respiratory syncytial virus (RSV) infection. The prospective observational German Synagis™ Registry comprises data from 249 children below 25 months of age with DS and palivizumab prophylaxis 2009-2016 (1191 administrations; mean 4.8 per patient and season). The median gestational age and the birth weight in patients without and with DS were 31 versus 37 weeks (P versus 2750 g, respectively (P heart disease (CHD), siblings in kindergarten or school, treatment with oxygen at home, immunodeficiency, and neuromuscular impairment. The RSV-related hospitalization rate in patients with DS was 1.20%; the hospitalization rate in patients without DS was 0.71%. Data from 249 children with DS receiving palivizumab prophylaxis in seven consecutive RSV seasons (2009-2016) in Germany reveal important differences between patients with and without DS concerning the main indication for palivizumab use and additional risk factors. Bearing in mind the limitations of an uncontrolled postmarketing observational study, the results confirm the field effectiveness of palivizumab prophylaxis in this special population. What is Known: • Recent studies describe the Down syndrome as independent risk factor for a complicated clinical course in infants with RSV infection. What is New: • Compared with other infants receiving palivizumab prophylaxis, patients with Down syndrome significantly more often had congenital heart disease, siblings in kindergarten or school, treatment with oxygen at home, immunodeficiency, and neuromuscular impairment. • In infants with palivizumab prophylaxis breakthrough, RSV-related hospitalization rates were not significantly higher in those with Down syndrome.

The Role of Respiratory Infection in Sudden Infant Death Syndrome (SIDS

Directory of Open Access Journals (Sweden)

Mage David T.

2016-06-01

Full Text Available Introduction: The Sudden Infant Death Syndrome (SIDS is not likely to be explained by a currently measureable presence in all cases and absence in controls, as otherwise it would have been solved already. Indeed, any proposed physiological model for SIDS causation must explain the constant mathematical and statistical properties of SIDS age and gender. We have shown previously that SIDS are characterized by a common 4-parameter lognormal age distribution sparing neonatal infants, by a nominal 50% male excess, and by a higher rate in winter than summer. We test now whether SIDS is closely related to a fulminating prodromal Acute Respiratory Infection (ARI by a common increasing rate with the infants increasing Live Birth Order (LBO, all remaining the same, independent of the change in preferred sleeping positions of the infants, prone or supine.

Psychomotor development in infants with Prader-Willi syndrome and associations with sleep-related breathing disorders.

Science.gov (United States)

Festen, Dederieke A M; Wevers, Maaike; de Weerd, Al W; van den Bossche, Renilde A S; Duivenvoorden, Hugo J; Otten, Barto J; Wit, Jan Maarten; Hokken-Koelega, Anita C S

2007-08-01

Prader-Willi syndrome (PWS) is a neurogenetic disorder with hypotonia, psychomotor delay, obesity, short stature, and sleep-related breathing disorders. The aim of this study was to evaluate the association between psychomotor development and sleep-related breathing disorders in PWS infants. Bayley Scales of Infant Development were performed in 22 PWS infants, with a median (interquartile range, IQR) age of 1.8 (1.1-3.4) y, and a body mass index SD score (BMISDS) of -0.5 (-1.3 to 1.6). We evaluated psychomotor development in relation to results of polysomnography. Median (IQR) mental and motor development was 73.1% (64.3-79.6%) and 55.2% (46.5-63.1%) of normal children, respectively. All infants had sleep-related breathing disorders, mostly of central origin. The apnea hypopnea index was not associated with psychomotor development. Only four infants had obstructive sleep apnea syndrome (OSAS). They had a significantly delayed mental development of 65.5% (60.0-70.3%) of normal. They had a median BMISDS of 1.4 (0.1-1.6), which tended to be higher than in those without OSAS. Our data indicate that psychomotor development in PWS infants is not related to central sleep-related breathing disorders, but infants with OSAS have more severely delayed mental development, suggesting that PWS infants should be screened for OSAS.

Concurrent Relations between Face Scanning and Language: A Cross-Syndrome Infant Study.

Directory of Open Access Journals (Sweden)

Dean D'Souza

Full Text Available Typically developing (TD infants enhance their learning of spoken language by observing speakers' mouth movements. Given the fact that word learning is seriously delayed in most children with neurodevelopmental disorders, we hypothesized that this delay partly results from differences in visual face scanning, e.g., focusing attention away from the mouth. To test this hypothesis, we used an eye tracker to measure visual attention in 95 infants and toddlers with Down syndrome (DS, fragile X syndrome (FXS, and Williams syndrome (WS, and compared their data to 25 chronological- and mental-age matched 16-month-old TD controls. We presented participants with two talking faces (one on each side of the screen and a sound (/ga/. One face (the congruent face mouthed the syllable that the participants could hear (i.e., /ga/, while the other face (the incongruent face mouthed a different syllable (/ba/ from the one they could hear. As expected, we found that TD children with a relatively large vocabulary made more fixations to the mouth region of the incongruent face than elsewhere. However, toddlers with FXS or WS who had a relatively large receptive vocabulary made more fixations to the eyes (rather than the mouth of the incongruent face. In DS, by contrast, fixations to the speaker's overall face (rather than to her eyes or mouth predicted vocabulary size. These findings suggest that, at some point in development, different processes or strategies relating to visual attention are involved in language acquisition in DS, FXS, and WS. This knowledge may help further explain why language is delayed in children with neurodevelopmental disorders. It also raises the possibility that syndrome-specific interventions should include an early focus on efficient face-scanning behaviour.

The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome

DEFF Research Database (Denmark)

Banner, Jytte; Gregersen, N; Kølvraa, S

1993-01-01

A number of rare inherited metabolic disorders are known to lead to death in infancy. Deficiency of medium-chain acyl CoA dehydrogenase has, on clinical grounds, been related particularly to sudden infant death syndrome. The contribution of this disorder to the etiology of sudden infant death...... syndrome is still a matter of controversy. The present study investigated 120 well-defined cases of sudden infant death syndrome in order to detect the frequency of the most common disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase (G985) compared with the frequency...... in the general population. A highly specific polymerase chain reaction assay was applied on dried blood spots. No over-representation of homo- or heterozygosity for G985 appears to exist in such a strictly defined population, for which reason it may be more relevant to look at a broader spectrum of clinical...

Case report: heavy metal burden presenting as Bartter syndrome.

Science.gov (United States)

Crinnion, Walter J; Tran, Jessica Q

2010-12-01

Maternal transfer of heavy metals during fetal development or lactation possibly contributed to the clinical manifestations of Bartter syndrome and developmental delay in the offspring. An 11-month-old child diagnosed with Bartter syndrome and failure to thrive was treated concurrently for elevated metal burden while he was undergoing standard medical interventions. Treatment with body-weight doses of meso-2,3-dimercaptosuccinic acid (DMSA) reduced the body burden of lead, beryllium, copper, mercury, and cadmium at the three- and sixth-month follow-up tests. During the course of the six-month treatment, the patient gained 2.4 kg (5.2 lb) and grew approximately 9.5 cm (3.75 in). His weight shifted from significantly below the 5th percentile in weight to within the 5th percentile, and from below the 5th to within the 10th percentile for length. The child's acquisition of lead, beryllium, and copper correspond to his mother's history of stained glass assembly and occurred during fetal development or lactation, since there were no other identifiable sources that could have contributed to the heavy metal burden. Tests for known genetic mutations leading to Bartter syndrome were all negative. This case report highlights the potential benefit of DMSA for treatment of heavy metal body burden in infants who present with Bartter syndrome.

Sudden infant death syndrome: an unrecognized killer in developing countries

Directory of Open Access Journals (Sweden)

Ndu IK

2016-02-01

Full Text Available Ikenna Kingsley Ndu Department of Paediatrics, Enugu State University Teaching Hospital, Enugu, Nigeria Abstract: Sudden infant death syndrome (SIDS is defined as the sudden unexpected death of an infant <1 year of age, with onset of the fatal episode apparently occurring during sleep, that remains unexplained after a thorough investigation including performance of a complete autopsy and review of the circumstances of death and the clinical history. SIDS contributes to infant mortality and resulted in ~15,000 deaths globally in 2013. Most of the risk factors of SIDS are common in developing countries; yet, there has been little interest in SIDS by researchers in Africa. This review looks at the extent of the attention given to SIDS in a developing country like Nigeria, and factors responsible for the scarce data concerning this significant cause of mortality. Keywords: SIDS, mortality, Nigeria

Atypical presentations of Wolframs syndrome

Directory of Open Access Journals (Sweden)

S Saran

2012-01-01

Full Text Available Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory neural deafness. Also included are less well-described presentations of Wolframs syndrome. We here present three cases of atypical presentation of this syndrome. Case 1: A 15-year-old boy with insulin-dependent diabetes was presented for evaluation of depressive symptoms associated with suicidal tendency. Neuropsychiatric manifestations are described with Wolframs syndrome, and wolframin gene, in recessive inheritance, is associated with psychiatric illnesses without other manifestations of Wolframs syndrome. Case 2: A 17-year-old diabetic boy on insulin with good control of blood sugar presented for evaluation of delayed puberty. Central hypogonadism and other anterior pituitary hormone dysfunctions are the less publicized hormone dysfunctions in Wolframs syndrome. Case 3: A 23-year-old female who was on insulin for diabetes for the past 14 years, got admitted for evaluation of sudden loss of vision. This patient had developed a vitreous hemorrhage and, on evaluation, was found to have optic atrophy, sensory neural hearing loss, and diabetes insipidus, and presented differently from the gradual loss of vision described in Wolframs syndrome. Conclusion: Wolframs syndrome being a multisystem degenerative disorder can have myriad other manifestations than the classically described features. Neuropsychiatric manifestations, depression with suicidal risk, central hypogonadism, and secondary adrenal insufficiency are among the less well-described manifestations of this syndrome.

77 FR 42768 - Leadership Meeting on Maternal, Fetal, and Infant Opioid Exposure and Neonatal Abstinence Syndrome

Science.gov (United States)

2012-07-20

... OFFICE OF NATIONAL DRUG CONTROL POLICY Leadership Meeting on Maternal, Fetal, and Infant Opioid Exposure and Neonatal Abstinence Syndrome AGENCY: Office of National Drug Control Policy. ACTION: Notice. SUMMARY: An ONDCP Leadership Meeting on Maternal, Fetal and Infant Opioid Exposure and Neonatal Abstinence...

Interaction between bedding and sleeping position in the sudden infant death syndrome: a population based case-control study.

Science.gov (United States)

Fleming, P J; Gilbert, R; Azaz, Y; Berry, P J; Rudd, P T; Stewart, A; Hall, E

1990-01-01

OBJECTIVE--To determine the relation between sleeping position and quantity of bedding and the risk of sudden unexpected infant death. DESIGN--A study of all infants dying suddenly and unexpectedly and of two controls matched for age and date with each index case. The parents of control infants were interviewed within 72 hours of the index infant's death. Information was collected on bedding, sleeping position, heating, and recent signs of illness for index and control infants. SETTING--A defined geographical area comprising most of the county of Avon and part of Somerset. SUBJECTS--72 Infants who had died suddenly and unexpectedly (of whom 67 had died from the sudden infant death syndrome) and 144 control infants. RESULTS--Compared with the control infants the infants who had died from the sudden infant death syndrome were more likely to have been sleeping prone (relative risk 8.8; 95% confidence interval 7.0 to 11.0; p less than 0.001), to have been more heavily wrapped (relative risk 1.14 per tog above 8 tog; 1.03 to 1.28; p less than 0.05), and to have had the heating on all night (relative risk 2.7; 1.4 to 5.2; p less than 0.01). These differences were less pronounced in the younger infants (less than 70 days) than the older ones. The risk of sudden unexpected death among infants older than 70 days, nursed prone, and with clothing and bedding of total thermal resistance greater than 10 tog was increased by factors of 15.1 (2.6 to 89.6) and 25.2 (3.7 to 169.0) respectively compared with the risk in infants of the same age nursed supine or on their side and under less than 6 tog of bedding. CONCLUSIONS--Overheating and the prone position are independently associated with an increased risk of sudden unexpected infant death, particularly in infants aged more than 70 days. Educating parents about appropriate thermal care and sleeping position of infants may help to reduce the incidence of the sudden infant death syndrome. PMID:2390588

Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series

Science.gov (United States)

Hogan, Abigail L.; Caravella, Kelly E.; Ezell, Jordan; Rague, Lisa; Hills, Kimberly; Roberts, Jane E.

2017-01-01

No studies to date have prospectively examined early autism spectrum disorder (ASD) markers in infants with fragile X syndrome (FXS), who are at elevated risk for ASD. This paper describes the developmental profiles of eight infants with FXS from 9 to 24 months of age. Four meet diagnostic criteria for ASD at 24 months of age, and four do not.…

Misdiagnosis of Bland-White-Garland Syndrome: Report of Two Cases with Different Presentations

Directory of Open Access Journals (Sweden)

Akbar Molaei

2014-03-01

Full Text Available Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA or Bland-White-Garland syndrome is usually an isolated cardiac anomaly but, in rare incidences, has been described with patent ductus arteriosus, ventricular septal defect, and tetralogy of Fallot. This syndrome may cause sudden death in infants and young people but in this case report we present two different types of presentation. First case was a 3 year old girl diagnosed with dilated cardiomyopathy since her infancy. Her electrocardiography showed prominent Q wave in lateral leads. Dilated right coronary artery was revealed by echocardiography. The second case was a girl with prolapsed mitral valve and chest pain but similar to first case she had prominent Q wave in lateral leads at her electrocardiography and dilated right coronary artery but without heart failure. ALCAPA in children may present with ambiguous presentations differing from dilated cardiomyopathy and full blown heart failure to an atypical chest pain attributed to prolapsed mitral valve.

Síndrome de muerte súbita del lactante Sudden infant death syndrome

Directory of Open Access Journals (Sweden)

María Marlen Avalos González

2009-09-01

Full Text Available En nuestra área de salud se presentó un caso de muerte súbita del lactante, en un paciente de 7 meses de edad, masculino, con antecedentes de salud anterior y antecedentes patológicos familiares negativos. Fue inexplicable su muerte, aun después de realizada una necropsia completa, la investigación de la escena de la muerte y la evaluación de la historia clínica del niño y su familia. El síndrome de muerte súbita del lactante es de causa desconocida, lo más probable es que sea de etiología multifactorial, se debe de estar alerta para evitar los factores que se asocian con mayor frecuencia a estos niños y así prevenir la aparición de este síndrome.In our health area, there was a case of sudden infant death, in a patient aged 7 months, male, with previous health backgrounds and negative family pathologic backgrounds. Its death was inexplicable, even after a complete necropsy, the research of death scene, and the medical record assessment of child and its family. Sudden infant death syndrome is an unknown cause, probably of multifactor origin. We must to be on the alert to avoid the more frequent factors associating with these children, and thus to prevent appearance of this syndrome.

New Respiratory Viruses in Infants with Bronchoobstructive Syndrome

Directory of Open Access Journals (Sweden)

S.M. Rudenko

2014-05-01

Full Text Available The objective of our study was to identify new respiratory viruses in infants with bronchoobstructive syndrome (obstructive bronchitis and exacerbation of bronchial asthma. We examined 28 children aged from 5 months to 6 years. The average age of the patients was 33.7 months (95% CI 24.5–43.0. Viruses have been identified in 75 % of patients. In 39.3 % we found bocavirus. Metapneumovirus was detected in 10.7 % of patients. Exacerbation of bronchial asthma 2.3 times more likely was associated with bocavirus infection compared to patients with obstructive bronchitis (RR = 2.3 (95% CI 0.9–6.2. Duration of bronchoobstructive syndrome in children with bronchial asthma was significantly higher (p < 0.0001 than in children with obstructive bronchitis — 5.3 days (95% CI 4.1–6.4 versus 2.7 days (95% CI 2.3–3.1. The findings confirm a significant role of viral infection and new respiratory viruses in causing bronchoobstructive syndrome in children.

Back to Sleep: Reduce the Risk of Sudden Infant Death Syndrome (SIDS) [and] Questions and Answers for Professionals on Infant Sleeping Position and SIDS.

Science.gov (United States)

Health Resources and Services Administration (DHHS/PHS), Washington, DC. Maternal and Child Health Bureau.

The "Back to Sleep" public health campaign, which recommends that infants be placed on their backs for sleeping help reduce the risk of Sudden Infant Death Syndrome (SIDS), was initiated in 1994. The campaign was led by the National Institute of Child Health and Human Development, and co-sponsored by the U.S. Public Health Service, the…

Effects of milk flow on the physiological and behavioural responses to feeding in an infant with hypoplastic left heart syndrome.

Science.gov (United States)

Pados, Britt F; Thoyre, Suzanne M; Estrem, Hayley H; Park, Jinhee; Knafl, George J; Nix, Brant

2017-01-01

Infants with hypoplastic left heart syndrome often experience difficulty with oral feeding, which contributes to growth failure, morbidity, and mortality. In response to feeding difficulty, clinicians often change the bottle nipple, and thus milk flow rate. Slow-flow nipples have been found to reduce the stress of feeding in other fragile infants, but no research has evaluated the responses of infants with hypoplastic left heart syndrome to alterations in milk flow. The purpose of this study was to evaluate the physiological and behavioural responses of an infant with hypoplastic left heart syndrome to bottle feeding with either a slow-flow (Dr. Brown's Preemie) or a standard-flow (Dr. Brown's Level 2) nipple. A single infant was studied for three feedings: two slow-flow and one standard-flow. Oral feeding, whether with a slow-flow or a standard-flow nipple, was distressing for this infant. During slow-flow feeding, she experienced more coughing events, whereas during standard-flow she experienced more gagging. Disengagement and compelling disorganisation were most common during feeding 3, that is slow-flow, which occurred 2 days after surgical placement of a gastrostomy tube. Clinically significant changes in heart rate, oxygen saturation, and respiratory rate were seen during all feedings. Heart rate was higher during standard-flow and respiratory rate was higher during slow-flow. Further research is needed to examine the responses of infants with hypoplastic left heart syndrome to oral feeding and to identify strategies that will support these fragile infants as they learn to feed. Future research should evaluate an even slower-flow nipple along with additional supportive feeding strategies.

New Respiratory Viruses in Infants with Bronchoobstructive Syndrome

OpenAIRE

S.M. Rudenko; O.V. Obertynska; Yu.O. Boyko; O.M. Okhotnikova; I.V. Dzyublik

2014-01-01

The objective of our study was to identify new respiratory viruses in infants with bronchoobstructive syndrome (obstructive bronchitis and exacerbation of bronchial asthma). We examined 28 children aged from 5 months to 6 years. The average age of the patients was 33.7 months (95% CI 24.5–43.0). Viruses have been identified in 75 % of patients. In 39.3 % we found bocavirus. Metapneumovirus was detected in 10.7 % of patients. Exacerbation of bronchial asthma 2.3 times more likely was associate...

Pneumothorax in premature infants with respiratory distress syndrome: focus on risk factors

Directory of Open Access Journals (Sweden)

Sabina Terzic

2016-02-01

Full Text Available Introduction: Pneumothorax is a life threatening condition, more often seen in immature infants receiving mechanical ventilation. It carries a significant risk of death and impaired outcome.Objective: To determine predictive factors for the occurrence of pneumothorax in preterm infants with respiratory distress syndrome (RDS.Patients and methods: The present study was conducted in a tertiary research and educational hospital, NICU, Pediatric Clinic UKC Sarajevo, from January 2010 to December 2013. All infants had chest X-ray at admission, and were treated due to RDS with nasal continuous positive airway pressure (CPAP, mechanical ventilation, or high frequency oscillatory ventilation. At admission we registered data regarding birth weight, gestational age, Apgar score, prenatally given steroids. Inclusion criteria were fulfilled by 417 infants. Data about timing, circumstances, side and treatment of pneumothorax were gathered from medical records.Results: Mean birth weight was 1,477 g, mean gestational age 29.6 weeks. We report 98 infants who did not survive. We also report incidence of pneumothorax in 5% of the infants with RDS. In this study pneumothorax and non-pneumothorax groups didn’t differ regarding sex, gestational age (median 29 and 30 nor birth weight (p = 0.818. Apgar score at the 1st and 5th minute of life had no influence in genesis of pulmonary air leak, neither prenatally given steroids (p = 0.639, nor surfactant administration. There was a low coverage of preterm infants with prenatal steroids (overall 28.29%. We found that FiO2 ≥ 0.4 in the first 12 hours of life, and need for mechanical ventilation are predicting factors for developing pneumothorax (p < 0.05.Conclusion: Together with mechanical ventilation, inspired fraction of oxygen higher than 40%, needed to provide adequate oxygenation in the first 12 hours of life in preterm infants, could be a predictive factor in selecting the highest risk babies for development of

Dilatation of the Great Arteries in an Infant with Marfan Syndrome and Ventricular Septal Defect

Directory of Open Access Journals (Sweden)

L. Rozendaal

2011-01-01

Full Text Available We describe an infant presenting with contractures of the fingers, a large ventricular septal defect (VSD, and severe pulmonary artery dilatation. He had clinical and echocardiographic features of both neonatal or infantile Marfan syndrome (MFS and congenital contractural arachnodactyly. After surgical VSD closure, the aortic root developed progressive dilatation while the size of pulmonary artery returned to normal limits. Eventually the diagnosis of MFS was confirmed by DNA analysis.

Prenatal Alcohol Exposure and Miscarriage, Stillbirth, Preterm Delivery, and Sudden Infant Death Syndrome

OpenAIRE

Bailey, Beth A.; Sokol, Robert J.

2011-01-01

In addition to fetal alcohol syndrome and fetal alcohol spectrum disorders, prenatal alcohol exposure is associated with many other adverse pregnancy and birth outcomes. Research suggests that alcohol use during pregnancy may increase the risk of miscarriage, stillbirth, preterm delivery, and sudden infant death syndrome. This research has some inherent difficulties, such as the collection of accurate information about alcohol consumption during pregnancy and controlling for comorbid exposure...

Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea.

Science.gov (United States)

Igrutinović, Zoran; Peco-Antić, Amira; Radlović, Nedeljko; Vuletić, Biljana; Marković, Slavica; Vujić, Ana; Rasković, Zorica

2011-01-01

Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. We are presenting an infant with pseudo-Bartter syndrome caused by congenital chloride diarrhoea. A male newborn born in the 37th gestational week (GW) to young healthy and non-consanguineous parents. In the 35th GW a polyhydramnios with bowel dilatation was verified by ultrasonography. After birth he manifested several episodes of hyponatremic dehydration with hypochloraemia, hypokalaemia and metabolic alkalosis, so as Bartter syndrome was suspected treatment with indomethacin, spironolactone and additional intake of NaCl was initiated. However, this therapy gave no results, so that at age six months he was rehospitalized under the features of persistent watery diarrhoea, vomiting, dehydration and acute renal failure (serum creatinine 123 micromol/L). The laboratory results showed hyponatraemia (123 mmol/L), hypokalaemia (3.1 mmol/L), severe hypochloraemia (43 mmol/L), alcalosis (blood pH 7.64, bicarbonate 50.6 mmol/L), high plasma renin (20.6 ng/ml) and aldosterone (232.9 ng/ml), but a low urinary chloride concentration (2.1 mmol/L). Based on these findings, as well as the stool chloride concentration of 110 mmol/L, the patient was diagnosed congenital chloride diarrhoea. In further course, the patient was treated by intensive fluid, sodium and potassium supplementation which resulted in the normalization of serum electrolytes, renal function, as well as his mental and physical development during 10 months of follow-up. Persistent watery diarrhoea with a high concentration of chloride in stool is the key finding in the differentiation of congenital chloride diarrhoea from Bartter syndrome. The treatment of congenital chloride diarrhoea consists primarily of adequate water and electrolytes replacement.

DEVELOPMENTAL FOLLOW-UP OF A FEMALE INFANT WITH RECOMBINANT DOWN SYNDROME UP TO THREE AND A HALF YEARS

Directory of Open Access Journals (Sweden)

Darija Strah

2018-02-01

Full Text Available Background: Recombinant Down Syndrome with partial duplication of the long arm of chromosome 21 represents a rare form of partial trisomy 21. The cause is mostly chromosome rearrangement- pericentric inversion of maternal or paternal homologous chromosome 21 and duplication of Down syndrome critical region p11.1q22.1, resulting in a child with phenotypical signs of classical Down syndrome with psychomotorical developmental delay. Methods: We describe a Down sydrome female infant with partial trisomy of chromosome 21. Ultra- sound screening for Down syndrome in the first trimester of pregnancy determined high risk for chromosomal abnormality. Amniocentesis showed normal prenatal karyotype. After birth a female infant started to show symptoms and signs, typical for classical Down syndrome. Postnatal karyotype revealed pericentric inversion and duplication of one chro- mosome 21 of maternal origin in the p11.1q22.1 region. The follow up of female infant up to three and a half years shows signs of psychomotorical delay with no structural defects. Therefore her developmental amelioration is less expressed compared to classical Down syndrome. Conclusions: Developmental follow up of a girl with partial trisomy 21 reveals a lot of similarities with the development of children with classical trisomy 21, but less expressed: facial gestalt, short statue, hypotonia and intellectual disabilities. Global developmental delay in spite of developmental treatment grows more and more evidently.

Unusual presentation of Klinefelter syndrome

Science.gov (United States)

Das, Chanchal; Sahana, Pranab Kumar; Sengupta, Nilanjan; Roy, Mukut; Dasgupta, Ranen

2013-01-01

Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele. Case Note: Six and half year old boy had complaints of genitourinary problem in the form of hypospadias, small phallus and hydrocele. Karyotyping showed 47,XXY. Conclusion: This case illustrates that Klinefelter syndrome was presented in the infancy with hypospadias and hydrocele which are very uncommon presentation of the disease PMID:24910838

Neonatal respiratory distress syndrome

Science.gov (United States)

Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs ...

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

Science.gov (United States)

Eker, Hatice Koçak; Derinkuyu, Betül Emine; Ünal, Sevim; Masliah-Planchon, Julien; Drunat, Séverine; Verloes, Alain

2014-01-01

Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

[Transient myeloproliferation and acute myeloid leukemia in infants with Down's syndrome].

Science.gov (United States)

Creutzig, U; Ritter, J; Vormoor, J; Eschenbach, C; Dickerhoff, R; Burdach, S; Scheel-Walter, H G; Kühl, J; Schellong, G

1990-01-01

Transient neonatal myeloproliferative disorders (TMD's) indistinguishable from acute leukaemia by clinical and morphological criteria have been described in neonates with Down's syndrome. To analyse its clinical significance, 10 infants under 1 year of age presenting with Down's syndrome and the morphological picture of acute myelogenous leukaemia were reviewed. 3 of these children had true AML leading to death after 2, 8 and 11 months. In the other 7 children the diagnosis TMD was suggested as spontaneous or in one case interferon-induced remission occurred within 4 to 25 weeks after diagnosis. The interferon-treated patient died of SIDS at the age of 11 months. Another one of the TMD children developed fatal erythroleukaemia at the age of 2 years. Regarding initial clinical and haematological parameters, TMD was indistinguishable from true congenital leukaemie. In all patients classification according to the FAB criteria was difficult, as mainly undifferentiated or poorly differentiated myeloid blasts were seen, sometimes with erythro- or megakaryocytic features. Because of the difficulties in the differential diagnosis of TMD and true AML it is recommended to delay specific cytostatic therapy in neonates with Down's syndrome, until definite progression of the leukaemic process is observed or cytogenetic analyses suggesting true AML are available.

Metabolic syndrome presenting as abdominal pain

Directory of Open Access Journals (Sweden)

Mohammed Y Al-Dossary

2017-01-01

Full Text Available Metabolic syndrome represents a sum of risk factors that lead to the occurrence of cardiovascular and cerebrovascular events. The early detection of metabolic syndrome is extremely important in adults who are at risk. Although the physiopathological mechanisms of the metabolic syndrome are not yet clear, insulin resistance plays a key role that could explain the development of type 2 diabetes mellitus in untreated metabolic syndrome patients. Here, we present the case of a 26-year-old male who was diagnosed with metabolic syndrome and severe hypertriglyceridemia after presenting with abdominal pain. Although hypertriglyceridemia and hyperglycemia are the most common predictors of metabolic syndrome, clinicians need to be vigilant for unexpected presentations in patients at risk for metabolic syndrome. This case sheds light on the importance of early detection.

Interim obturator in an infant with Treacher Collins syndrome: Review and chairside modification in impression making

Directory of Open Access Journals (Sweden)

Sudhir Bhandari

2011-01-01

Full Text Available Treacher Collins syndrome has been described as a syndrome involving 1st and 2nd branchial arches, affecting various organs in the craniofacial region. Affected infants report with nasal regurgitation and minimal dietary intake due to cleft palate, consequently show delayed and retarded growth. The situation is further complicated when the repair of the palatal defect is postponed due to delayed milestones. At this juncture, it is of paramount importance to intervene prosthetically and close the defect with the aid of an interim obturator. Herein we describe a simple, yet successful, chairside approach to make an impression of an infant without the aid of any kind of anesthesia.

Safe sleep practices and sudden infant death syndrome risk reduction: NICU and well-baby nursery graduates.

Science.gov (United States)

Fowler, Aja J; Evans, Patricia W; Etchegaray, Jason M; Ottenbacher, Allison; Arnold, Cody

2013-11-01

Our primary objective was to compare parents of infants cared for in newborn intensive care units (NICUs) and infants cared for in well-baby ("general") nurseries with regard to knowledge and practice of safe sleep practices/sudden infant death syndrome risk reduction measures and guidelines. Our secondary objective was to obtain qualitative data regarding reasons for noncompliance in both populations. Sixty participants (30 from each population) completed our survey measuring safe sleep knowledge and practice. Parents of NICU infants reported using 2 safe sleep practices-(a) always placing baby in crib to sleep and (b) always placing baby on back to sleep-significantly more frequently than parents of well infants. Additional findings and implications for future studies are discussed.

Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea

Directory of Open Access Journals (Sweden)

Igrutinović Zoran

2011-01-01

Full Text Available Introduction. Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. We are presenting an infant with pseudo-Bartter syndrome caused by congenital chloride diarrhoea. Case Outline. A male newborn born in the 37th gestational week (GW to young healthy and non-consanguineous parents. In the 35th GW a polyhydramnios with bowel dilatation was verified by ultrasonography. After birth he manifested several episodes of hyponatremic dehydration with hypochloraemia, hypokalaemia and metabolic alkalosis, so as Bartter syndrome was suspected treatment with indomethacin, spironolactone and additional intake of NaCl was initiated. However, this therapy gave no results, so that at age six months he was rehospitalized under the features of persistent watery diarrhoea, vomiting, dehydration and acute renal failure (serum creatinine 123 μmol/L. The laboratory results showed hyponatraemia (123 mmol/L, hypokalaemia (3.1 mmol/L, severe hypochloraemia (43 mmol/L, alcalosis (blood pH 7.64, bicarbonate 50.6 mmol/L, high plasma renin (20.6 ng/ml and aldosterone (232.9 ng/ml, but a low urinary chloride concentration (2.1 mmol/L. Based on these findings, as well as the stool chloride concentration of 110 mmol/L, the patient was diagnosed congenital chloride diarrhoea. In further course, the patient was treated by intensive fluid, sodium and potassium supplementation which resulted in the normalization of serum electrolytes, renal function, as well as his mental and physical development during 10 months of follow-up. Conclusion. Persistent watery diarrhoea with a high concentration of chloride in stool is the key finding in the differentiation of congenital chloride diarrhoea from Bartter syndrome. The treatment of congenital chloride diarrhoea consists primarily of adequate water and electrolytes replacement.

Maternal and obstetrical predictors of sudden infant death syndrome (SIDS).

Science.gov (United States)

Friedmann, Isabel; Dahdouh, Elias M; Kugler, Perlyne; Mimran, Gracia; Balayla, Jacques

2017-10-01

Public Health initiatives, such as the "Safe to Sleep" campaign, have traditionally targeted infants' risk factors for the prevention of Sudden Infant Death Syndrome (SIDS). However, controversy remains regarding maternal and obstetrical risk factors for SIDS. In our study, we sought out to determine both modifiable and non-modifiable obstetrical and maternal risk factors associated with SIDS. We conducted a population-based cohort study using the CDC's Linked Birth-Infant Death data from the United States for the year 2010. The impact of several obstetrical and maternal risk factors on the risk of overall infant mortality and SIDS was estimated using unconditional regression analysis, adjusting for relevant confounders. Our cohort consisted of 4,007,105 deliveries and 24,174 infant deaths during the first year of life, of which 1991 (8.2%) were due to SIDS. Prominent risk factors for SIDS included (OR [95% CI]): black race, 1.89 [1.68-2.13]; maternal smoking, 3.56 [3.18-3.99]; maternal chronic hypertension, 1.73 [1.21-2.48]; gestational hypertension, 1.51 [1.23-1.87]; premature birth <37 weeks, 2.16 [1.82-2.55]; IUGR, 2.46 [2.14-2.82]; and being a twin, 1.81 [1.43-2.29], p < 0.0001. Relative to a cohort of infants who died of other causes, risk factors with a predilection for SIDS were maternal smoking, 2.48 [2.16-2.83] and being a twin, 1.52 [1.21-1.91], p < 0.0001. Conclusions for practice: While certain socio-demographic and gestational characteristics are important risk factors, maternal smoking remains the strongest prenatal modifiable risk factor for SIDS. We recommend the continuation of Public Health initiatives that promote safe infant sleeping practices and smoking cessation during and after pregnancy.

Arousal responses in babies at risk of sudden infant death syndrome at different postnatal ages.

LENUS (Irish Health Repository)

Dunne, K P

1992-03-01

Hypercarbic and hypoxic arousal responses during sleep were measured in healthy term infants, infants where a previous sibling died from sudden infant death syndrome (SIDS) and infants suffering a clearly defined apparent life threatening event (ALTE) requiring vigorous or mouth to mouth resuscitation. Groups of infants were tested at approximately one, six and 13 weeks postnatally. Arousal was defined as gross body movement with eyes opening and moving or crying. Hypercarbic arousal was by step increases in F1 Co2 until arousal occurred or until endtidal (PETCO2) reached 8.7 KpA (65 mm Hg) Hypoxic arousal was by step decreases in FIO2 until arousal occurred or until an FIO2 of 0.15 had been maintained for 20 minutes. There was no difference in hypercaribic arousal threshold with age in any group. Hypercarbic arousal threshold was significantly higher in siblings (mean 53.4, 53.6, 54.7 mmHg. [7.12, 7.14, 7.29 KPA] at 0, 6, 13 postnatal weeks) compared to controls (mean 50.9, 52.3, 53.0mm Hg. [6.78, 6.97, 7.29 KPS respectively). ALTE infants differed only at 12 weeks having a significantly lower threshold (51.0mmHg. [6.80 KPA] V 53.0mm Hg. (7.06 KPA]) compared to controls. There was no difference in hypoxic arousal response with age in any group. An arousal response to hypoxia occurred in only 22% of ALTE infants and 40% of siblings compared to 67% of normal infants. Deficient sleep arousal, especially to hypoxia, is common in infants and especially those considered at increased risk from SIDS. This deficiency is present in the first postnatal week and did not vary overy the first three months of postnatal life.

The prevalence of turner syndrome in girls presenting with coarctation of the aorta.

Science.gov (United States)

Wong, Sze Choong; Burgess, Trent; Cheung, Michael; Zacharin, Margaret

2014-02-01

To determine the prevalence of Turner syndrome in girls presenting with coarctation of the aorta (CoA). A total of 132 girls with known structural CoA was identified. Those girls who had no previous karyotype analysis performed were asked to participate in a research study in which a banded karyotype with 50-cell count was performed. Of 132 girls with CoA, 55 (41.7%) had karyotype analysis within 6 months of cardiac diagnosis. Three girls underwent karyotyping later because of clinical concerns. Of the 74 girls with CoA who had not had a karyotype, 38 (51.4%) consented to the study. Results were available for 37 girls. All were 46,XX. Five patients with Turner syndrome were identified in the 95 girls with CoA who had karyotype analysis (4 from early karyotype and 1 diagnosed later), which translated into a minimum prevalence of 5.3% of Turner syndrome in this group of girls with CoA. In addition, one infant with a 20-cell 46,XX karyotype had features of Turner syndrome. Our study demonstrated for the first time in a large cohort that 5.3% of girls presenting with CoA are found to have Turner syndrome when karyotyping is performed. Given the spectrum of preventable and treatable health problems after the diagnosis of Turner syndrome, we believe that all girls with CoA should have a karyotype analysis, ideally with at least 50-cell count, at the time of diagnosis of CoA. Copyright © 2014 Mosby, Inc. All rights reserved.

Twin-twin transfusion syndrome: neurodevelopment of infants treated with laser surgery

Directory of Open Access Journals (Sweden)

Denise Campos

2016-04-01

Full Text Available ABSTRACT Objective To assess the neurodevelopmental functions of survivors of twin-twin transfusion syndrome (TTTS treated by fetoscopic laser coagulation (FLC, during the first year of life, comparing them to a control group; and to verify the influence of specific variables on neurodevelopment. Method This was a prospective, longitudinal study. The sample comprised 33 monochorionic diamniotic twins who underwent FLC for treatment of TTTS and 22 full-term infants of single-fetus pregnancies. Bayley Scales of Infant and Toddler Development Screening Test were used for evaluation. Prenatal, perinatal and postnatal information were obtained. Results There was an increased frequency of infants in the TTTS group with inadequate performance compared to the control group. The identified variables (fetal donor, low economic income and cardiorespiratory disease negatively impacted expressive communication and fine motor skills. Conclusion Although through follow-up is recommended in all TTTS survivors, particular attention is required for the high-risk group as defined in this study.

Clinical presentation and management of neonatal abstinence syndrome: an update

Directory of Open Access Journals (Sweden)

Ordean A

2014-04-01

Full Text Available Alice Ordean,1 Brian C Chisamore21Department of Family Medicine, 2Department of Pediatrics, St Joseph's Health Centre, and University of Toronto, Toronto, ON, CanadaAbstract: Exposure to prescription medications and illicit drug use during pregnancy has been associated with neonatal abstinence syndrome. The clinical presentation consists of neurological respiratory, gastrointestinal, and vasomotor disturbances. All infants require observation and supportive care to ensure appropriate adaptation and growth in the newborn period. A smaller percentage may also require additional pharmacotherapy, depending on the specific gestational substance exposure. Women should be counseled antenatally about the possible neonatal effects, and mother–baby dyad care should be implemented for this particular patient population.Keywords: neonatal withdrawal, opioids, marijuana, cocaine, benzodiazepines, selective serotonin reuptake inhibitors

Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data

DEFF Research Database (Denmark)

Andreasen, Charlotte Hartig; Refsgaard, Lena; Nielsen, Jonas B

2013-01-01

National Heart, Lung, and Blood Institute Grand Opportunity (NHLBI GO) Exome Sequencing Project (ESP) provided important knowledge on genetic variation in the background population. Our aim was to identify all variants previously associated with SIDS in ESP to improve the discrimination between plausible......Sudden infant death syndrome (SIDS) is the leading cause of death in the first 6 months after birth in the industrialized world. The genetic contribution to SIDS has been investigated intensively and to date, 14 cardiac channelopathy genes have been associated with SIDS. Newly published data from...

Is It Time for a Sudden Infant Death Syndrome (SIDS) Awareness Campaign? Community Stakeholders' Perceptions of SIDS

Science.gov (United States)

Gollenberg, Audra; Fendley, Kim

2018-01-01

Sudden infant death syndrome (SIDS) remains a leading cause of infant death in the United States, and in Virginia. We sought to gauge the perceptions among community-identified stakeholders regarding community resource needs to reduce SIDS. Snowball sampling identified important community stakeholders to be interviewed as key informants. A…

Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.

Science.gov (United States)

Sakthivel, Muthukumar; Hughes, Stephen M; Riley, Phil; Arkwright, Peter D; Mukherjee, Anindya; Ramsden, Simon; Urquhart, Jill; Crow, Yanick J

2011-12-01

The panniculitides are a group of heterogeneous inflammatory diseases involving the subcutaneous fat, the pathogenesis of which is poorly understood. Here, we report on a female infant with Prader-Willi syndrome who developed a systemic inflammatory disorder in the neonatal period demonstrating recurrent panniculitis as a prominent feature. This is the second report of an association between Prader-Willi syndrome and panniculitis. Such an association might be explained by the unmasking of a recessive allele as a consequence of hemizygosity, in the case of a 15q11 deletion, or homozygosity, in the case of maternal isodisomy. Copyright © 2011 Wiley Periodicals, Inc.

Plasma Brain-Derived Neurotrophic Factor Levels in Newborn Infants with Neonatal Abstinence Syndrome

Directory of Open Access Journals (Sweden)

Lochan Subedi

2017-11-01

Full Text Available BackgroundBrain-derived neurotrophic factor (BDNF is a type of growth factor that promotes growth and survival of neurons. Fetal exposure to opiates can lead to postnatal withdrawal syndrome, which is referred as neonatal abstinence syndrome (NAS. Preclinical and clinical studies have shown an association between opiates exposure and alteration in BDNF expression in the brain and serum levels in adult. However, to date, there are no data available on the effects of opiate exposure on BDNF levels in infant who are exposed to opiates in utero and whether BDNF level may correlate with the severity of NAS.ObjectiveTo compare plasma BDNF levels among NAS and non-NAS infants and to determine the correlation of BDNF levels and the severity of NAS.MethodsThis is a prospective cohort study with no intervention involved. Infants ≥35 weeks of gestation were enrolled. BDNF level was measured using enzyme-linked immunosorbent assay technique from blood samples drawn within 48 h of life. The severity of NAS was determined by the length of hospital stay, number of medications required to treat NAS.Results67 infants were enrolled, 34 NAS and 33 non-NAS. Mean gestational age did not differ between the two groups. Mean birth weight of NAS infants was significantly lower than the non-NAS infants (3,070 ± 523 vs. 3,340 ± 459 g, p = 0.028. Mean BDNF level in NAS group was 252.2 ± 91.6 ng/ml, significantly higher than 211.3 ± 66.3 ng/ml in the non-NAS group (p = 0.04. There were no differences in BDNF levels between NAS infants that required one medication vs. more than one medication (254 ± 91 vs. 218 ± 106 ng/ml, p = 0.47. There was no correlation between the BDNF levels and length of hospital stay (p = 0.68 among NAS infants. Overall, there were no significant correlations between BDNF levels and NAS scores except at around 15 h after admission (correlation 0.35, p = 0.045.ConclusionPlasma BDNF

Plasma Brain-Derived Neurotrophic Factor Levels in Newborn Infants with Neonatal Abstinence Syndrome.

Science.gov (United States)

Subedi, Lochan; Huang, Hong; Pant, Amrita; Westgate, Philip M; Bada, Henrietta S; Bauer, John A; Giannone, Peter J; Sithisarn, Thitinart

2017-01-01

Brain-derived neurotrophic factor (BDNF) is a type of growth factor that promotes growth and survival of neurons. Fetal exposure to opiates can lead to postnatal withdrawal syndrome, which is referred as neonatal abstinence syndrome (NAS). Preclinical and clinical studies have shown an association between opiates exposure and alteration in BDNF expression in the brain and serum levels in adult. However, to date, there are no data available on the effects of opiate exposure on BDNF levels in infant who are exposed to opiates in utero and whether BDNF level may correlate with the severity of NAS. To compare plasma BDNF levels among NAS and non-NAS infants and to determine the correlation of BDNF levels and the severity of NAS. This is a prospective cohort study with no intervention involved. Infants ≥35 weeks of gestation were enrolled. BDNF level was measured using enzyme-linked immunosorbent assay technique from blood samples drawn within 48 h of life. The severity of NAS was determined by the length of hospital stay, number of medications required to treat NAS. 67 infants were enrolled, 34 NAS and 33 non-NAS. Mean gestational age did not differ between the two groups. Mean birth weight of NAS infants was significantly lower than the non-NAS infants (3,070 ± 523 vs. 3,340 ± 459 g, p  = 0.028). Mean BDNF level in NAS group was 252.2 ± 91.6 ng/ml, significantly higher than 211.3 ± 66.3 ng/ml in the non-NAS group ( p  = 0.04). There were no differences in BDNF levels between NAS infants that required one medication vs. more than one medication (254 ± 91 vs. 218 ± 106 ng/ml, p  = 0.47). There was no correlation between the BDNF levels and length of hospital stay ( p  = 0.68) among NAS infants. Overall, there were no significant correlations between BDNF levels and NAS scores except at around 15 h after admission (correlation 0.35, p  = 0.045). Plasma BDNF level was significantly increased in NAS infants

Positive predictive value of the infant respiratory distress syndrome diagnosis in the Danish National Patient Registry

Directory of Open Access Journals (Sweden)

Thygesen SK

2013-08-01

Full Text Available Sandra Kruchov Thygesen, Morten Olsen, Christian Fynbo ChristiansenDepartment of Clinical Epidemiology, Aarhus University Hospital, Aarhus, DenmarkBackground: Infant respiratory distress syndrome (IRDS is the most common respiratory disease in preterm infants, and is associated with considerable morbidity and mortality. Valid data on IRDS are important in clinical epidemiological research.Objectives: The objective of this study was to estimate the positive predictive value (PPV of the IRDS diagnosis registered in the population-based Danish National Patient Registry according to the International Classification of Diseases, 8th and 10th revisions.Methods: Between January 1, 1977 and December 31, 2008, we randomly selected three patients per year, 96 in total, who were registered with an IRDS diagnosis in the Danish National Patient Registry and living in the northern part of Denmark. Data on the infants included information on the presence of predefined clinical symptoms. We defined IRDS as the presence of at least two of four clinical symptoms (tachypnea, retractions or nasal flaring, grunting, and central cyanosis, which had to be present for more than 30 minutes. Using medical record review as the reference standard, we computed the positive predictive value of the registered IRDS diagnosis including 95% confidence intervals (CIs.Results: We located the medical record for 90 of the 96 patients (94%, and found an overall PPV of the IRDS diagnosis of 81% (95% CI 72%–88%. This did not vary substantially between primary and secondary diagnoses. The PPV was higher, at 89% (95% CI 80%–95%, for preterm infants born before 37 weeks of gestation.Conclusion: The PPV of the IRDS diagnosis in the Danish National Patient Registry is reasonable when compared with symptoms described in the corresponding medical records. The Danish National Patient Registry is a useful data source for studies of IRDS, particularly if restricted to preterm infants

A novel Noonan syndrome RAF1 mutation: lethal course in a preterm infant

Directory of Open Access Journals (Sweden)

Ana Ratola

2015-06-01

Full Text Available Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal outcome associated to acute respiratory distress syndrome caused by Adenovirus pneumonia. A novel mutation in the RAF1 gene was identified: c.782C>G (p.Pro261Arg in heterozygosity, not described previously in the literature. Consequently, the common clinical course in this mutation and its respective contribution to the early fatal outcome is unknown. No conclusion can be established regarding genotype/phenotype correlation.

Association between Interleukin-10-1082 G/A and Tumor Necrosis Factor-α 308 G/A Gene Polymorphisms and Respiratory Distress Syndrome in Iranian Preterm Infants

OpenAIRE

Khoshdel, Abolfazl; Kheiri, Soleiman; Omidvari, Peyman; Moradi, Fahimeh; Hamidi, Majid; Teimori, Hossein

2017-01-01

Cytokine polymorphisms may contribute to the prevalence of respiratory distress syndrome. The present study was done to investigate the frequency of interleukin- (IL-) 10 and tumor necrosis factor- (TNF-) ? gene polymorphisms and their association with the risk of RDS in preterm infants. One-hundred and nineteen patients with RDS and 119 healthy preterm infants were enrolled. PCR restriction fragment length polymorphism was used to determine the frequency of IL-10 and TNF-? genotypes at -1082...

Aicardi Syndrome

Science.gov (United States)

... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

Present practice of diagnostic imaging in the newborn infants

International Nuclear Information System (INIS)

Akamatsu, Hiroshi

1994-01-01

The present practice of diagnostic imaging in our NICU (which includes premature unit) was studied, surveying the total 637 admitted newborn infants during the year of 1992. The total number of diagnostic imaging performed other than scout radiography was 939. The number of ultrasonography of the heart and the brain, and brain CT was 752 or 80.0% of the total. These were done more frequently in the cases of very low birth weight infants. In our NICU, ultrasonography including pulse-doppler method, is performed for diagnosis of structural and functional abnormality of the cardiopulmonary systems and also for finding intracranial lesion, on the basis of finding in plain chest films. In spite of various limitation, we are performing, as the necessity commands, fluoroscopic contrast study, angiography, scintigraphy and MRI for the low birth weight (≥1,500g) and mature infants. Some of the actual cases in which diagnostic imaging was helpful were presented. Recently, upon admittance to the NICU for the specific abnormality of the newborn and premature infants, orginally, asymptomatic diseases are often found and diagnosed. This should be the results of progress in diagnostic imaging in recent years. (author)

The importance of a forensics investigation of sudden infant death syndrome: recommendations for developing, low and middle income countries

Directory of Open Access Journals (Sweden)

Steven A. Koehler

2010-11-01

Full Text Available Sudden infant deaths syndrome (SIDS, the sudden and unexpected death of a normal and healthy infant, has remained a medical and forensic mystery. Despite years of research all attempts to ascertain the exact cause and manner of death have failed. The information collected during the course of the comprehensive investigation by the various investigation agencies and analysis of the data has not been in vain. The epidemiological, demographic, and pathological data have identified distinctive features and risk factors associated with infants that died from SIDS. Epidemiological data has provided the unique characteristics of infants that died of SIDS that differentiates them from non-SIDS infants. Analysis of information from the death scene investigation has identified key risk factor behaviour associated with SIDS, namely the prone sleeping position. Pathological examination of the internal organs, specifically the brain, has shown some differences between SIDS and non-SIDS infants. However, to gain a complete picture of SIDS data, all countries around the world must provide information, even basic information, to understand this syndrome better. Developing countries must understand their role and importance in developing plans to investigate, collect, and disseminate SIDS data to the rest of the world. This paper provides general guidelines for the investigation of SIDS in developing countries.

Extubation success in premature infants with respiratory distress syndrome treated with bi-level nasal continuous positive airway pressure versus nasal intermittent positive pressure ventilation.

Science.gov (United States)

Thomas, Patricia E; LeFlore, Judy

2013-01-01

Infants born prematurely with respiratory distress syndrome are at high risk for complications from mechanical ventilation. Strategies are needed to minimize their days on the ventilator. The purpose of this study was to compare extubation success rates in infants treated with 2 different types of continuous positive airway pressure devices. A retrospective cohort study design was used. Data were retrieved from electronic medical records for patients in a large, metropolitan, level III neonatal intensive care unit. A sample of 194 premature infants with respiratory distress syndrome was selected, 124 of whom were treated with nasal intermittent positive pressure ventilation and 70 with bi-level variable flow nasal continuous positive airway pressure (bi-level nasal continuous positive airway pressure). Infants in both groups had high extubation success rates (79% of nasal intermittent positive pressure ventilation group and 77% of bi-level nasal continuous positive airway pressure group). Although infants in the bi-level nasal continuous positive airway pressure group were extubated sooner, there was no difference in duration of oxygen therapy between the 2 groups. Promoting early extubation and extubation success is a vital strategy to reduce complications of mechanical ventilation that adversely affect premature infants with respiratory distress syndrome.

Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing.

Science.gov (United States)

Mathur, Deepan; Somashekar, Santhosh; Navarrete, Cristina; Rodriguez, Maria M

2014-08-01

Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene.

Waardenburg syndrome presenting with constipation since birth.

Science.gov (United States)

Gupta, R; Sharma, S B; Mathur, P; Agrawal, L D

2014-12-01

Shah-Waardenburg syndrome is Waardenburg syndrome associated with Hirschsprung's disease. A 10-day-old full-term male neonate of Waardenburg syndrome presented with constipation since birth along with features of small bowel obstruction. Exploratory laparotomy revealed distended proximal jejunal and ileal loops along with microcolon; an ileostomy was performed. Postoperatively patient developed sepsis and died. Histopathology confirmed total colonic aganglionosis. Suspect familial Shah-Waardenburg syndrome in a neonate of Waardenburg syndrome presenting with constipation since birth or intestinal obstruction.

Associated malformations among infants with anophthalmia and microphthalmia.

Science.gov (United States)

Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

2012-03-01

Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated malformations vary among different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with anophthalmia and microphthalmia in a geographically well defined population from 1979 to 2004 of 346,831 consecutive births. Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosomal and 15 infants [17%] with nonchromosomal conditions), and nonrecognizable conditions (41 infants [47%] with multiple malformations). Trisomies 13 and 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, CHARGE syndrome, Meckel-Gruber syndrome, and VACTERL association were most often present in recognizable nonchromosomal conditions. Malformations in the musculoskeletal, cardiovascular, and central nervous systems were the most common other anomalies in infants with multiple malformations and nonrecognizable conditions. The frequency of associated malformations in infants with anophthalmia or microphthalmia emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations-especially musculoskeletal, cardiac, and central nervous system anomalies-may need to be considered in infants with anophthalmia or microphthalmia, and referral of these infants for genetics evaluation and counseling seems warranted. Copyright © 2012 Wiley Periodicals, Inc.

Berardinelli Seip syndrome with insulin-resistant diabetes mellitus and stroke in an infant.

Science.gov (United States)

Indumathi, C K; Lewin, S; Ayyar, Vageesh

2011-07-01

Berardinelli Seip congenital lipodystrophy (BSCL) is a rare metabolic disorder characterized by severe generalized lipodystrophy, insulin resistance, and dyslipedemia since infancy, and onset of overt diabetes mellitus in adolescence. Here we report a 5-month-old infant with clinical and metabolic manifestations of Berardinelli Seip syndrome including overt diabetes mellitus and stroke, which are very rare at this age.

Berardinelli Seip syndrome with insulin-resistant diabetes mellitus and stroke in an infant

OpenAIRE

C K Indumathi; S Lewin; Vageesh Ayyar

2011-01-01

Berardinelli Seip congenital lipodystrophy (BSCL) is a rare metabolic disorder characterized by severe generalized lipodystrophy, insulin resistance, and dyslipedemia since infancy, and onset of overt diabetes mellitus in adolescence. Here we report a 5-month-old infant with clinical and metabolic manifestations of Berardinelli Seip syndrome including overt diabetes mellitus and stroke, which are very rare at this age.

Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome

Directory of Open Access Journals (Sweden)

Natsuko Mano

2015-06-01

Full Text Available Purpose: Walker-Warburg syndrome (WWS is a type of congenital muscular dystrophy (CMD characterised by severe brain malformation, lissencephaly, and congenital eye abnormalities. Despite the coexistence of various eye abnormalities, results from optical coherence tomography (OCT in WWS have not previously been reported. We herein report specific OCT findings in an infant with WWS. Patients and Methods: The patient was a 14-day-old boy delivered by caesarean section at 38 weeks and 4 days of gestation and with a birth weight of 2,543 g. A cranial MRI showed lissencephaly, hydrocephalus, an encephalocele, and cerebellar hypoplasia, consistent with the diagnosis of WWS. Results: A bilateral ocular examination showed no abnormalities of the anterior eye segment. A fundus examination showed a persistent hyaloid artery in the vitreous cavity, a widespread loss of fundus pigmentation, transparent choroidal vessels (some choroidal vessel sections were visible, and the absence of a distinct macular reflex. OCT showed no foveal pit and an indistinct laminar structure of the retina. The infant subsequently developed congenital glaucoma and he then died of respiratory failure at the age of 8 months. Conclusions: WWS is associated with a high incidence of congenital eye abnormalities, and this infant showed findings consistent with WWS. OCT revealed a marked retinal dysplasia.

Effectiveness of a presentation on infant oral health care for parents.

Science.gov (United States)

Rothe, Vincent; Kebriaei, Amy; Pitner, Sheryl; Balluff, Mary; Salama, Fouad

2010-01-01

The aim of this study was to evaluate an infant oral health education programme, using a pre-post test design, for parents attending a paediatric clinic. The subjects were parents attending the well baby appointments at 3, 6, and 9 months of age. The study participants were men and women, all with an infant between 3 and 12 months of age. A 16 question assessment in the form of a questionnaire was completed immediately before and after the introduction of a 30 min educational intervention in the form of a PowerPoint presentation and a video of infant oral hygiene for parents. The parents completed the questionnaire twice (pre-post test design) in the same visit. Recruited parents attended only one presentation. The presentation educated parents about infant oral health and provided anticipatory guidance. Forty-seven parents or caretakers participated in the study. On the pre-test 28% had a score of 70% or less, and on the post-test 87% got a score of 88% or better. On the pre-test, 72% had a score of 70% or higher, and on the post-test 87% got a score of 88% or higher. Most parents (80%) reported that the presentation was helpful and indicated that the information would change the way they care for their baby's teeth at home. This study demonstrated the effectiveness of a 30 min PowerPoint and Video presentation in improving the oral health knowledge of parents caring for an infant.

Psychomotor development in infants with Prader-Willi syndrome and associations with sleep-related breathing disorders.

NARCIS (Netherlands)

Festen, D.A.M.; Wevers, M.; Weerd, A.W. de; Bossche, R.A. van den; Duivenvoorden, H.J.; Otten, B.J.; Wit, J.M.; Hokken-Koelega, A.C.S.

2007-01-01

Prader-Willi syndrome (PWS) is a neurogenetic disorder with hypotonia, psychomotor delay, obesity, short stature, and sleep-related breathing disorders. The aim of this study was to evaluate the association between psychomotor development and sleep-related breathing disorders in PWS infants. Bayley

Sudden infant death syndrome: how much mothers and health professionals know.

Science.gov (United States)

Yikilkan, Hulya; Unalan, Pemra Cobek; Cakir, Erkan; Ersu, Refika Hamutcu; Cifcili, Serap; Akman, Mehmet; Uzuner, Arzu; Dagli, Elif

2011-02-01

Behavioral risk factors are associated with sudden infant death syndrome (SIDS). Education about the risk factors of SIDS is important for prevention. Our aim was to determine the knowledge and attitude of parents and health professionals about SIDS. A total of 174 health professionals and 150 mothers were enrolled in this study. Mothers' data were collected by telephone interview and health-care professionals were interviewed by the same investigator. Only 39% of mothers were aware of SIDS. Forty-six percent of the mothers preferred a supine sleeping position for their infant and 16% of the parents were bed-sharing with their infants. Seventy-three percent of health professionals selected side, 17% supine and 10% prone sleeping position as the safest sleeping position. Frequencies for awareness of risk factors were: bed-sharing (75%), soft bedding (70%), pillow use (52%), toys in bed (90%), high room temperature (67%) and smoking (88%). Total knowledge score of health professionals who selected supine sleeping position as the safest was significantly higher (P sleeping position for their infant. Only 72% of health professionals recommended a certain sleeping position during family interviews. Health professionals are more often recommending the side sleeping position or prone. Education of families and health professionals for the risk factors of SIDS may reduce the number of deaths from SIDS in Istanbul. © 2011 The Authors. Pediatrics International © 2011 Japan Pediatric Society.

Metabolic syndrome pathophysiology and clinical presentation.

Science.gov (United States)

Handelsman, Yehuda

2009-01-01

Metabolic syndrome is a relatively new definition, designed to help the health care practitioner to easily identify people at risk for the development of cardiovascular disease and diabetes. With the obesity epidemic, we are witnessing an epidemic of multiple-risk patients. Insulin resistance is the perceived pathophysiology of metabolic syndrome and defines its clinical presentation. Hypertension, dyslipedemia, polycystic ovarian syndrome, fatty liver disease, pre-diabetes, sleep and breathing disorder, certain cancers, and cognitive impairment are many of the presentations of the syndrome; patients with any of these conditions are at a high risk of developing cardiovascular disease and diabetes. The metabolic syndrome helps identify people at risk to allow early intervention for prevention. Lifestyle modification is the most important part of the management of people with the syndrome. Lately medications--though none approved by the U.S. Food and Drug Administration (FDA)--have been recommended by major medical societies when lifestyle modification is not enough or when it fails.

Heat stress and sudden infant death syndrome--stress gene expression after exposure to moderate heat stress

DEFF Research Database (Denmark)

Rohde, Marianne Cathrine; Corydon, Thomas Juhl; Hansen, Jakob

2013-01-01

The aim of the present study was to investigate stress gene expression in cultured primary fibroblasts established from Achilles tendons collected during autopsies from sudden infant death syndrome (SIDS) cases, and age-matched controls (infants dying in a traumatic event). Expression of 4 stress...... responsive genes, HSPA1B, HSPD1, HMOX1, and SOD2, was studied by quantitative reverse transcriptase PCR analysis of RNA purified from cells cultured under standard or various thermal stress conditions. The expression of all 4 genes was highly influenced by thermal stress in both SIDS and control cells. High...... interpersonal variance found in the SIDS group indicated that they represented a more heterogeneous group than controls. The SIDS group responded to thermal stress with a higher expression of the HSPA1B and HSPD1 genes compared to the control group, whereas no significant difference was observed...

Median nerve conduction velocity and central conduction time measured with somatosensory evoked potentials in thyroxine-treated infants with Down syndrome

NARCIS (Netherlands)

van Trotsenburg, A. S. Paul; Smit, Bert J.; Koelman, Johannes H. T. M.; Dekker-van der Sloot, Marijke; Ridder, Jeannette C. D.; Tijssen, Jan G. P.; de Vijlder, Jan J. M.; Vulsma, Thomas

2006-01-01

OBJECTIVE: The aim of this study was to determine whether thyroxine treatment would improve nerve conduction in infants with Down syndrome. METHODS: A single-center, nationwide, randomized, double-blind, clinical trial was performed. Neonates with Down syndrome were assigned randomly to thyroxine (N

Infants with Down syndrome: percentage and age for acquisition of gross motor skills.

Science.gov (United States)

Pereira, Karina; Basso, Renata Pedrolongo; Lindquist, Ana Raquel Rodrigues; da Silva, Louise Gracelli Pereira; Tudella, Eloisa

2013-03-01

The literature is bereft of information about the age at which infants with Down syndrome (DS) acquire motor skills and the percentage of infants that do so by the age of 12 months. Therefore, it is necessary to identify the difference in age, in relation to typical infants, at which motor skills were acquired and the percentage of infants with DS that acquire them in the first year of life. Infants with DS (N=20) and typical infants (N=25), both aged between 3 and 12 months, were evaluated monthly using the AIMS. In the prone position, a difference of up to 3 months was found for the acquisition of the 3rd to 16th skill. There was a difference in the percentage of infants with DS who acquired the 10th to 21st skill (from 71% to 7%). In the supine position, a difference of up to one month was found from the 3rd to 7th skill; however, 100% were able to perform these skills. In the sitting position, a difference of 1-4 months was found from the 1st to 12th skill, ranging from 69% to 29% from the 9th to 12th. In the upright position, the difference was 2-3 months from the 3rd to 8th skill. Only 13% acquired the 8th skill and no other skill was acquired up to the age of 12 months. The more complex the skills the greater the difference in age between typical infants and those with DS and the lower the percentage of DS individuals who performed the skills in the prone, sitting and upright positions. None of the DS infants were able to stand without support. Copyright © 2012 Elsevier Ltd. All rights reserved.

Berardinelli Seip syndrome with insulin-resistant diabetes mellitus and stroke in an infant

Directory of Open Access Journals (Sweden)

C K Indumathi

2011-01-01

Full Text Available Berardinelli Seip congenital lipodystrophy (BSCL is a rare metabolic disorder characterized by severe generalized lipodystrophy, insulin resistance, and dyslipedemia since infancy, and onset of overt diabetes mellitus in adolescence. Here we report a 5-month-old infant with clinical and metabolic manifestations of Berardinelli Seip syndrome including overt diabetes mellitus and stroke, which are very rare at this age.

Tracheostomy Among Infants With Hypoplastic Left Heart Syndrome Undergoing Cardiac Operations: A Multicenter Analysis.

Science.gov (United States)

Prodhan, Parthak; Agarwal, Amit; ElHassan, Nahed O; Bolin, Elijah H; Beam, Brandon; Garcia, Xiomara; Gaies, Michael; Tang, Xinyu

2017-04-01

Less than 2.7% of infants undergoing congenital heart disease operations have difficulty weaning from invasive mechanical ventilation. In such instances, clinicians may choose to perform tracheostomy. Limited literature has examined tracheostomy placement specifically in infants with hypoplastic left heart syndrome (HLHS). This study evaluated the risk factors for tracheostomy placement in infants with HLHS and examined the outcomes of these infants before their first hospital discharge. This retrospective analysis of the Pediatric Heath Information System data set included infants with HLHS who underwent stage 1 Norwood operation, a hybrid procedure, or heart transplant from 2004 through 2013. We identified 5721 infants with HLHS, and 126 underwent tracheostomy placement. Infants in the tracheostomy group had more morbidities and a higher mortality rate across the study period. Diagnosis of chromosomal abnormalities, anomalies of the trachea and esophagus, larynx, diaphragm and nervous system, bilateral vocal cord paralysis, and necrotizing enterocolitis, and procedures including extracorporeal membrane oxygenation support, cardiac catheterization, and gastrostomy tube were independently associated with tracheostomy placement in the study population. Despite an overall increase in rates of tracheostomy performed in infants with HLHS during the study period, the mortality rate did not improve among tracheostomy patients. Several risk factors were identified in infants with HLHS in whom a tracheostomy was placed during their first hospitalization. Despite an overall increase in rates of tracheostomies during the study period, the mortality rate did not improve among these patients. Appropriate family counseling and thorough preoperative case selection is suggested when discussing possible tracheostomy placement in infants with HLHS. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Chlamydia and sudden infant death syndrome. A study of 166 SIDS and 30 control cases

DEFF Research Database (Denmark)

Banner, Jytte; Lundemose, A G; Gregersen, M

1990-01-01

.04). Chlamydia trachomatis is an agent of pneumonia in 1-4 month-old infants who have acquired the disease from an infected cervix during birth, but other chlamydia species are also capable of causing pneumonia. The lung sections of the 32 chlamydia positive SIDS cases did not show typical histological signs......Chlamydia inclusions could be demonstrated by an immunofluorescence assay in formalin-fixed lung sections in 32 of 166 cases (19.4%) of Sudden Infant Death Syndrome (SIDS) and in the lungs of only 1 of 30 infants with a known cause of death (3.3%). The difference is statistically significant (P = 0...... of pneumonia. Even though chlamydia inclusions were detected in the lungs of 32 SIDS cases a causal relation between chlamydia infection and SIDS could not be demonstrated....

Primary antiphospholipid syndrome presenting with homonymous quadrantanopsia.

Science.gov (United States)

Yang, Hee Kyung; Moon, Ki Won; Ji, Min Jung; Han, Sang Beom; Hwang, Jeong-Min

2018-06-01

To report a case of primary antiphospholipid syndrome presenting with isolated homonymous superior quadrantanopsia. A 50-year-old Korean man presented with subjective visual disturbance for 1 month. Visual field testing showed a right homonymous superior quadrantanopsia. Brain magnetic resonance imaging (MRI) revealed an old infarct in his left occipital lobe and multiple lesions in other areas of the brain. Laboratory tests showed a marked increase in serum anti-β2 glycoprotein I antibody, which remained elevated after 12 weeks. He was diagnosed with primary antiphospholipid syndrome and started anticoagulation therapy. This is the first case report of primary antiphospholipid syndrome presenting with isolated homonymous quadrantanopsia. Antiphospholipid syndrome should be considered as a differential diagnosis in patients with homonymous visual field defects accompanying multiple cerebral infarcts.

Bronchoalveolar lavage with diluted porcine surfactant in mechanically ventilated term infants with meconium aspiration syndrome.

Science.gov (United States)

Lista, Gianluca; Bianchi, Silvia; Castoldi, Francesca; Fontana, Paola; Cavigioli, Francesco

2006-01-01

To evaluate the efficacy and safety of bronchoalveolar lavage (BAL) with diluted porcine surfactant in mechanically ventilated term infants with severe acute respiratory distress syndrome (ARDS) due to meconium aspiration syndrome (MAS). Eight consecutive mechanically ventilated term infants with severe ARDS due to MAS underwent BAL with 15 mL/kg of diluted (5.3mg phospholipid/mL) surfactant saline suspension (porcine surfactant [Curosurf]). Treatment was administered slowly in aliquots of 2.5 mL. The mean age of neonates at treatment was 3.5 (range 1-8) hours. Heart rate, systemic blood pressure and oxygen saturation were monitored continuously. Arterial blood gases were measured immediately before treatment, and again at 3 and 6 hours post-treatment. Chest x-rays were taken 6 and 24 hours after treatment. Radiological improvement was evident in all eight patients 6 hours post-treatment. Compared with pre-BAL values, significant improvements (p fluids that had been meconium-stained prior to BAL were clear of meconium after BAL. Only one patient required nitric oxide therapy for transient pulmonary hypertension. No adverse sequelae of treatment occurred during the study. BAL with dilute porcine surfactant administered slowly in 2.5 mL aliquots improved oxygenation and chest x-ray findings, without causing major adverse effects, in mechanically ventilated term infants with ARDS due to MAS.

High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome.

Science.gov (United States)

Beauloye, Veronique; Diene, Gwenaelle; Kuppens, Renske; Zech, Francis; Winandy, Coralie; Molinas, Catherine; Faye, Sandy; Kieffer, Isabelle; Beckers, Dominique; Nergårdh, Ricard; Hauffa, Berthold; Derycke, Christine; Delhanty, Patrick; Hokken-Koelega, Anita; Tauber, Maithé

2016-05-04

Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with different nutritional phases from suckling deficit with failure to thrive to early onset of obesity. Hyperghrelinemia has been described in PWS long before the development of obesity. Ghrelin is found in both acylated (AG) and unacylated (UAG) forms in the circulation. In contrast to AG, UAG has been shown to inhibit food intake and to be elevated in anorexia nervosa. The present project is aiming to determine the underlying mechanisms driving the different nutritional phases in PWS. Measurement of at least 4 h-fasting plasma acylated and unacylated ghrelin in 37 infants with a genetic diagnosis of PWS aged from 1 month to 4 years and in 100 age-matched controls without endocrine disorder recruited prior to minor surgery. One blood sampling was analysed for each patient/control and clinical data were recorded. Eleven PWS infants underwent repetitive blood samples at 3 or 6-month intervals during routine visits. In infants with PWS, AG is not elevated (p = 0.45), UAG is significantly higher (p = 0.0044; confidence interval 1.06;1.33) resulting in a low AG/UAG ratio (p = 0.0056; confidence interval 0.76;0.95) compared to controls. Unlike children and adults with PWS that have high AG and AG/UAG ratio, infants with PWS have elevated UAG that supports the concept of anorexia in the early phases of the disease. The change in AG/UAG ratio possibly drives the switch from failure to thrive to obesity. NCT02529085 .

Growth, motor, and social development in breast- and formula-fed infants of metformin-treated women with polycystic ovary syndrome.

Science.gov (United States)

Glueck, Charles J; Salehi, Marzieh; Sieve, Luann; Wang, Ping

2006-05-01

To test the hypothesis that metformin during lactation versus formula feeding would have no adverse effects on infants' growth, motor-social development, or intercurrent illness. Growth, motor-social development, and illness requiring a pediatrician visit were assessed in 61 nursing infants (21 male, 40 female) and 50 formula-fed infants (19 male, 31 female) born to 92 mothers with polycystic ovary syndrome (PCOS) taking a median of 2.55 g metformin per day throughout pregnancy and lactation. Within sex, at 3 and 6 months of age, weight, height, and motor-social development did not differ (p > or = .06) between breast- and formula-fed infants. No infants had retardation of growth, motor, or social development. Intercurrent illnesses did not differ. Metformin during lactation appears to be safe and effective in the first 6 months of infancy.

A "Wear and Tear" Hypothesis to Explain Sudden Infant Death Syndrome.

Science.gov (United States)

Elhaik, Eran

2016-01-01

Sudden infant death syndrome (SIDS) is the leading cause of death among USA infants under 1 year of age accounting for ~2,700 deaths per year. Although formally SIDS dates back at least 2,000 years and was even mentioned in the Hebrew Bible (Kings 3:19), its etiology remains unexplained prompting the CDC to initiate a sudden unexpected infant death case registry in 2010. Due to their total dependence, the ability of the infant to allostatically regulate stressors and stress responses shaped by genetic and environmental factors is severely constrained. We propose that SIDS is the result of cumulative painful, stressful, or traumatic exposures that begin in utero and tax neonatal regulatory systems incompatible with allostasis. We also identify several putative biochemical mechanisms involved in SIDS. We argue that the important characteristics of SIDS, namely male predominance (60:40), the significantly different SIDS rate among USA Hispanics (80% lower) compared to whites, 50% of cases occurring between 7.6 and 17.6 weeks after birth with only 10% after 24.7 weeks, and seasonal variation with most cases occurring during winter, are all associated with common environmental stressors, such as neonatal circumcision and seasonal illnesses. We predict that neonatal circumcision is associated with hypersensitivity to pain and decreased heart rate variability, which increase the risk for SIDS. We also predict that neonatal male circumcision will account for the SIDS gender bias and that groups that practice high male circumcision rates, such as USA whites, will have higher SIDS rates compared to groups with lower circumcision rates. SIDS rates will also be higher in USA states where Medicaid covers circumcision and lower among people that do not practice neonatal circumcision and/or cannot afford to pay for circumcision. We last predict that winter-born premature infants who are circumcised will be at higher risk of SIDS compared to infants who experienced fewer

Bronchiolitis obliterans syndrome: thin-section CT diagnosis of obstructive changes in infants and young children after lung transplantation.

Science.gov (United States)

Lau, D M; Siegel, M J; Hildebolt, C F; Cohen, A H

1998-09-01

To characterize the thin-section computed tomographic (CT) appearance of bronchiolitis fibrosa obliterans syndrome in infants and young children after lung transplantation. Thin-section CT studies in six patients with bronchiolitis obliterans syndrome (age range, 2 months to 5 1/2 years) and in 15 control patients without obstructive airway disease (age range, 2 months to 7 years) who underwent bilateral lung transplantation were retrospectively reviewed. The thin-section CT scans were obtained during quiet sleep at a median of 24 months (range, 6-36 months) after transplantation. The CT studies were evaluated for mosaic perfusion, bronchial dilatation, bronchial wall thickening, and mucous plugging Final diagnoses in all patients were based pulmonary function test results. Thin-section CT findings in the six patients with clinically proved bronchiolitis obliterans syndrome were mosaic perfusion in five (83%) bronchial dilation in three (50%), and bronchial wall thickening in one (17%). Of the 15 control patients with normal pulmonary function test results, six (40%) had mosaic perfusion; none had bronchial dilatation or bronchial wall thickening. Mucous plugging was not seen in either group. Only the association of bronchial dilatation with bronchiolitis obliterans syndrome was significant (P = .02). Infants and young children with bronchiolitis obliterans syndrome after lung transplantation are more likely to have CT abnormalities than those with normal pulmonary function test results.

Conns' syndrome - atypical presentations

International Nuclear Information System (INIS)

Kumar, K V S Hari; Modi, K D; Jha, Sangeeta; Jha, Ratan

2009-01-01

Primary hyperaldosteronism (Conns' syndrome) commonly presents with a combination of clinical features of hypokalemia and hypertension. Atypical presentations like normotension, normokalemia and neurological ailments are described in few cases. We encountered two such cases, the first presenting with acute neurological complaint and second case having insignificant hypertension. Both the patients had a characteristic biochemical and imaging profile consistent with primary hyperaldosteronism and responded to surgical resection of adrenal adenoma. (author)

Juvenile polyposis syndrome

Science.gov (United States)

Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

2016-01-01

Abstract Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. Methods: We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially. Panendoscopy and abdominal computed tomography showed multiple polyposis throughout the entire alimentary tract leading to intussusception. Technetium-99m-labeled red blood cell (RBC) bleeding scan revealed the possibility of gastrointestinal tract bleeding in the jejunum. Histopathological examination on biopsy samples showed Peutz-Jeghers syndrome was excluded, whereas the diagnosis of juvenile polyposis syndrome was established. Results: Enteroscopic polypectomy is the mainstay of the treatment. However, polyps recurred and occupied the majority of the gastrointestinal tract in 6 months. Supportive management was given. The patient expired for severe sepsis at the age of 18 months. Conclusion: Juvenile polyposis syndrome is an inherited disease, so it is not possible to prevent it. Concerning of its poor outcome and high mortality rate, it is important that we should increase awareness and education of the parents at its earliest stages. PMID:27631205

Missed Fractures in Infants Presenting to the Emergency Department With Fussiness.

Science.gov (United States)

Kondis, Jamie S; Muenzer, Jared; Luhmann, Janet D

2017-08-01

The aim of this study was to evaluate incidence of prior fussy emergency visits in infants with subsequently diagnosed fractures suggestive of abuse. This was a retrospective chart review of infants younger than 6 months who presented to the pediatric emergency department (ED) between January 1, 2006, and December 31, 2011. Inclusion criteria included age 0 to 6 months, discharge diagnosis including "fracture," "broken" (or break), or "trauma" or any child abuse diagnosis or chief complaint of "fussy" or "crying" as documented in the electronic medical record by the triage nurse. Three thousand seven hundred thirty-two charts were reviewed, and 279 infants with fractures were identified. Eighteen (6.5%) of 279 infants had a prior ED visit for fussiness without an obvious source. Of these, 2 had a witnessed event causing their fracture, and therefore the fracture was not considered concerning for abuse. The remaining 16 had fractures concerning for abuse. Mean age was 2.5 (SD, 1.2) months. Fifteen (83%) of 18 infants were 3 months or younger at the time of the fussy visit. The mean interval between the first and second ED visits was 27 days (median, 20 days). Thirty-nine percent were evaluated by a pediatric emergency medicine-trained physician during their initial fussy visit, whereas 78% were evaluated by pediatric emergency medicine-trained physician during their subsequent visit. Most common injuries were multiple types of fractures followed by extremity and rib fractures. Fractures concerning for child abuse are an important cause of unexplained fussiness in infants presenting to the pediatric ED. A high index of suspicion is essential for prompt diagnosis and likely prevention of other abuse.

Case report: long-term survival of an infant syndromic patient affected by atypical teratoid-rhabdoid tumor

International Nuclear Information System (INIS)

Modena, Piergiorgio; Maestro, Roberta; Giangaspero, Felice; Massimino, Maura; Sardi, Iacopo; Brenca, Monica; Giunti, Laura; Buccoliero, Anna Maria; Pollo, Bianca; Biassoni, Veronica; Genitori, Lorenzo; Antonelli, Manila

2013-01-01

Atypical teratoid rhabdoid tumor (ATRT) patients display a dismal median overall survival of less than 1 year. A consistent fraction of cases carries de-novo SMARCB1/INI1 constitutional mutations in the setting of the “rhabdoid tumor predisposition syndrome” and the outcome is worst in infant syndromic ATRT patients. We here describe a patient affected by mosaic Klinefelter syndrome and by rhabdoid tumor predisposition syndrome caused by constitutional SMARCB1/INI1 heterozygous mutation c.118C>T (Arg40X). Patient’s ATRT primary tumor occurred at 2 years of age concurrent with metastatic lesions. The patient was rendered without evidence of disease by combined surgery, high-dose poli-chemotherapy and craniospinal irradiation, followed by autologous hematopoietic stem cell transplantation. At the onset of a spinal lesion 5.5 years later, both tumors were pathologically and molecularly evaluated at the national central pathology review board and defined as ATRT in a syndromic patient, with strong evidence of a clonal origin of the two lesions. The patient was then treated according to SIOP guidelines and is now alive without evidence of disease 24 months after the detection of metastatic disease and 90 months after the original diagnosis. The report underscores the current utility of multiple comprehensive approaches for the correct diagnosis and clinical management of patients affected by rare and atypical brain neoplasms. Successful local control of disease and achievement of long-term survival is possible in ATRT patients even in the setting of rhabdoid tumor predisposition syndrome, infant age at diagnosis and metastatic spread of disease, thus justifying the efforts for the management of this severe condition

Adaptive Behavior and Development of Infants and Toddlers with Williams Syndrome

Directory of Open Access Journals (Sweden)

Rebecca M. Kirchner

2016-04-01

Full Text Available Williams syndrome (WS is a neurodevelopmental disorder that causes deficits in adaptive behavior, difficulties eating and sleeping, cognitive delays, and delayed development. Although researchers have conducted characterizations of children and adults with WS, less is known about young children with this disorder. This study characterizes the developmental and adaptive behavior features of 16 infants and toddlers with WS aged 3 months - 5 years. Data for this project was obtained from 2007-2014, and includes parent report data and standardized developmental testing. Thirty-one percent (31.3% of parents reported that their infant/toddler with WS had sleeping problems and 58.3% reported feeding difficulties. Levels of adaptive behavior were in the Mildly Delayed range as measured by the Adaptive Behavior Assessment System, Second Edition. Self care skills such as feeding or dressing oneself were significantly weaker than skills needed to function in the community, such as recognizing his/her home or throwing away trash. The difficulty with self-care skills is hypothesized to be related to the reported difficulties with eating and sleeping. Motor skills were significantly lower than both cognitive and language skills on the Bayley Scales of Infant and Toddler Development, Third Edition. The current study highlights the need for early intervention in these young children across all areas of development, particularly in self-care skills.

Juvenile polyposis syndrome

OpenAIRE

Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

2016-01-01

Abstract Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. Methods: We report a rare case of an 8-month-old male...

[Multiorgan failure associated with hyperthermia in an infant with Prader-Willi syndrome. case report].

Science.gov (United States)

Donoso, Alejandro; Arriagada, Daniela; Campbell, Stephanie; Cruces, Pablo

2013-10-01

Heat stroke is a medical emergency characterized primarily by an elevated core temperature associated with a systemic inflammatory response, which causes multiple organ dysfunction in which encephalopathy predominates. If it is not early treated has high mortality. The Prader-Willi syndrome is a multisystem genetic disorder secondary to an abnormality in long arm chromosome 15 (15q11-q13), characterized by neonatal central hypotonia, developmental delay, hypogonadism, hyperphagia and obesity. These patients are susceptible to developing thermoregulatory problems. We report the case of a 5-month-old infant, in whom a diagnosis of Prader-Willi syndrome was established in the course of a febrile episode without known focus, who developed multiorganic failure and rhabdomyolysis secondary to hyperthermia.

More than meets the eye: infant presenting with hypoxic ischaemic encephalopathy.

Science.gov (United States)

Sen, Kuntal; Agarwal, Rajkumar

2018-04-05

We report a newborn infant who presented with poor Apgar scores and umbilical artery acidosis leading to the diagnosis of hypoxic ischaemic encephalopathy. During the course of the infant's hospitalisation, subsequent workup revealed an underlying genetic cause that masqueraded as hypoxic ischaemic encephalopathy. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

The newborn period problems of the infants born to diabetic mothers

Directory of Open Access Journals (Sweden)

Deniz Anuk ince

2014-09-01

Results: A total of 31 infants were included. The incidence of insulin dependent diabetes mellitus was %22,6 and the incidence of gestational diabetes was %77,4. Mothers' mean age was 32,6+/-7,9 years and HbA1c level was 5,4+/-1 (4,2-10,2. The mean gestational age of infants was 37,5+/-1,5 weeks and the mean birth weight of infants was 3322,5+/- 695,8 g. Macrosomia was present in 32.2% of infants. Hypoglycemia was present in 9,7% of infants, hypocalcemia was seen 3.2%, polycytemia was seen 6.5%, anemia was seen 6.5%, thrombocytopenia was seen 9.2%, hyperbilirubinemia was seen 41.9%, respiratory distress syndrome was seen 12.9%, congenital anomaly was seen 3.7% of all infants. There was no correlation between HbA1c levels of mothers and hypoglycemia, hypocalcemia, anemia and respiratory distress syndrome. Conclusion: Many complications may be prevented with appropriate management, obstetric care and neonatal management. It is possible to reduce morbidities with the identification of gestational diabetes and metabolic control of hyperglycemia, the determination of risk factors, the close contact between the diabetic mother and her infant in the first hours of delivery and the close follow-up of infants of diabetic mothers with rooming-in who do not need neonatal intensive care unit care. [J Contemp Med 2014; 4(3.000: 115-120

Efficacy of INSURE during nasal CPAP in preterm infants with respiratory distress syndrome.

Science.gov (United States)

Leone, F; Trevisanuto, D; Cavallin, F; Parotto, M; Zanardo, V

2013-04-01

INSURE (INtubation, SURfactant, Extubation) is a proven complement of nasal CPAP (nCPAP) for respiratory distress syndrome (RDS) treatment of preterm infants. Early administration is characterized by greater success. We aimed to determine the efficacy and failure or other respiratory outcomes of INSURE administration during nasal continous positive airway pressure (nCPAP) treatment of RDS. Among 824 premature infants neonatal intensive care unit (NICU) admitted at Padua University Hospital during 2007-2009, 209 (25.4%) were managed by surfactant replacement (200 mg/kg, Curosurf®) if required >45% oxygen ("rescue" treatment), including 42 (20.1%) during nCPAP. Each premature infant treated with INSURE during nasal CPAP was compared to 2 consecutive control infants treated with surfactant during mechanical ventilation, matched for antenatal steroids, delivery route, gestational age, and sex. Infants with RDS, treated with nCPAP and INSURE-complement (N.=25), were comparable in Apgar score, need of PPV at birth, birth weight, pre-surfactant FiO2 and timing of surfactant replacement to controls. However, nCPAP and INSURE-complement was superior in terms both of oxygenation, evaluated as post-treatment FiO2 (Median, [IQR], 26 [21-40] vs. 21 [21-29]; P=0.03) and (a-A) pO2 (0.48 [0.45-0.60] vs. 0.58 [0.53-0.72]; P=0.03). The improved oxygenation was sustained over the following days. In addition, premature infants treated with nCPAP and INSURE-complement developed less respiratory co-morbidities, including pneumothorax, borncopulmonary disease (BPD), and BPD and death (P=0.04). INSURE-complement of nasal CPAP has a superior efficacy in terms of oxygenation improvement, maintenance of optimal oxygenation, and reduction of respiratory comorbidities respect to "rescue" surfactant administration during mechanical ventilation.

Growth hormone improves body composition and motor development in infants with Prader-Willi syndrome after six months.

Science.gov (United States)

Whitman, Barbara; Carrel, Aaron; Bekx, Tracy; Weber, Colleen; Allen, David; Myers, Susan

2004-04-01

Infants with Prader-Willi syndrome (PWS) show abnormalities of body composition. Children with PWS treated with growth hormone (GH) demonstrate improved body composition and motor skills. To assess body composition and motor changes in infants with PWS following 6 months GH therapy. Twenty-five infants with PWS (mean age 15.5 mo) underwent dual energy X-ray absorptiometry (DEXA) assessment of body composition, and motor assessment with the Toddler Infant Motor Evaluation (TIME). Patients were then randomized to treatment (Genotropin, 1 mg/m2/day) or control, with reassessment at 6 months. GH treatment significantly increased lean body mass (6.4 +/- 2.4 kg to 8.9 +/- 2.7 kg) and decreased body fat (27.6 +/- 9.9% to 22.4 +/- 10.3%). Age equivalent motor scores improved 4 months in the treated group vs 2 months in controls (p development improvement following 6 months GH therapy. We are investigating whether this improvement leads to long-term reductions in obesity.

Noninvasive ventilatory strategies in the management of a newborn infant and three children with congenital central hypoventilation syndrome.

Science.gov (United States)

Tibballs, James; Henning, Robert D

2003-12-01

Four children with congenital central hypoventilation syndrome (CCHS) treated with noninvasive techniques of ventilation are presented. Two infants (one in the newborn period) were treated with nasal mask bilevel positive airway pressure (BiPAP), and then both were transitioned to negative pressure chamber ventilation at several years of age because of possible midface hypoplasia. Tracheostomies were not performed. Two older children were transitioned from mechanical ventilation via tracheostomy to nasal mask BiPAP, and then in one case to negative pressure chamber ventilation, and in the other to phrenic nerve pacing. Their tracheostomies were removed. Copyright 2003 Wiley-Liss, Inc.

Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome.

Science.gov (United States)

McPherson, E W; Laneri, G; Clemens, M M; Kochmar, S J; Surti, U

1997-09-05

Coffin-Siris syndrome is a multiple anomaly/mental retardation syndrome characterized by "coarse" facial appearance, hypoplastic or absent nails on the fifth digits, generalized hirsutism with sparse scalp hair, hypotonia, and developmental delay. Due to several reports of affected sibs with or without a mildly affected parent, both autosomal recessive and autosomal dominant inheritance have been suggested. All previous patients with well-documented Coffin-Siris syndrome are chromosomally normal, and the gene has not been mapped. We report on an infant with typical findings of Coffin-Siris syndrome who also has a de novo apparently balanced translocation of chromosomes 1 and 7, karyotype 46,XY,t(1;7)(q21.3;q34). The parental chromosomes are normal and none of the relatives have signs of Coffin-Siris syndrome. The breakpoints 1q21.3 and 7q34 are suggested as possible locations for a Coffin-Siris gene.

[Present regulation on infant and follow-on formula].

Science.gov (United States)

Angulo Lucena, R; Gallego Domínguez, M C; Bentabol Manzanares, A; Jodral Villarejo, M

1995-01-01

The commercialization of breast milk substitutes has had great economic transcendence, sometimes without considering the sanitary and nutritional consequences for the customer. The sanitary authorities have been implied in this matter both in the International and European fields, issuing standards and regulations for the commercialization of breast milk substitutes which have been adopted by the Spanish Regulation. The aim of this paper is comment the regulations that affect foods for breast-feeding and short age children. This report analyzes and comments on the contents of international, european and national regulation on infant and follow-on formula. The regulations about Infant formula and Follow-on formula, banning the term of "humanized milk" and remarking the preference for breast feeding, which could only be substituted by sanitary professionals. This regulation deals with the appropriate chemical composition of these products, qualitative and quantitative. It includes standards for correct labeling, which should contain the appropriate information without idealizing the product Drawings and pictures showing the correct preparation are allowed. It provides for distribution and sales, as well as for correct advertising, which should be under control. This regulation also bans free samples and any other donation to particular customers or sanitary institutions. The present regulation on "Infant and Follow-on formulas" pursues the adequate nutrition of breast-feeding and short age children, being the protection of this kind of customers everyone's responsibility.

Neonatal Abstinence Syndrome (NAS): Transitioning Methadone Treated Infants From An Inpatient to an Outpatient Setting

Science.gov (United States)

Backes, Carl H.; Backes, Carl R.; Gardner, Debra; Nankervis, Craig A.; Giannone, Peter J.; Cordero, Leandro

2013-01-01

Background Each year in the US approximately 50,000 neonates receive inpatient pharmacotherapy for the treatment of neonatal abstinence syndrome (NAS). Objective To compare the safety and efficacy of a traditional inpatient only approach with a combined inpatient and outpatient methadone treatment program. Design/Methods Retrospective review (2007-9). Infants were born to mothers maintained on methadone or buprenorphine in an antenatal substance abuse program. All infants received methadone for NAS treatment as inpatient. Methadone weaning for the traditional group (75 pts) was inpatient while the combined group (46 pts) was outpatient. Results Infants in the traditional and combined groups were similar in demographics, obstetrical risk factors, birth weight, GA and the incidence of prematurity (34 & 31%). Hospital stay was shorter in the combined than in the traditional group (13 vs 25d; p < 0.01). Although the duration of treatment was longer for infants in the combined group (37 vs 21d, p<0.01), the cumulative methadone dose was similar (3.6 vs 3.1mg/kg, p 0.42). Follow-up: Information was available for 80% of infants in the traditional and 100% of infants in the combined group. All infants in the combined group were seen ≤ 72 hours from hospital discharge. Breast feeding was more common among infants in the combined group (24 vs. 8% p<0.05). Following discharge there were no differences between the two groups in hospital readmissions for NAS. Prematurity (<37w GA) was the only predictor for hospital readmission for NAS in both groups (p 0.02, OR 5). Average hospital cost for each infant in the combined group was $13,817 less than in the traditional group. Conclusions A combined inpatient and outpatient methadone treatment in the management of NAS decreases hospital stay and substantially reduces cost. Additional studies are needed to evaluate the potential long term benefits of the combined approach on infants and their families. PMID:21852772

Using a pacifier to decrease sudden infant death syndrome: an emergency department educational intervention

Directory of Open Access Journals (Sweden)

Paul Walsh

2014-03-01

Full Text Available Background. Pacifier use decreases the risk of sudden infant death syndrome (SIDS. An emergency department (ED visit may provide an opportunistic ‘teachable moment’ for parents.Objectives. To test the hypotheses (1 that caregivers were less familiar with the role of pacifiers in sudden infant death (SIDS prevention than other recommendations, and (2 that an ED educational intervention would increase pacifier use in infants younger than six months, and (3 that otitis media would not occur more frequently in pacifier users.Methods. We did an intervention-group-only longitudinal study in a county hospital ED. We measured pacifier use infants and baseline knowledge of SIDs prevention recommendations in caregivers. We followed up three months later to determine pacifier use, and 12 months later to determine episodes of otitis media.Results. We analyzed data for 780 infants. Parents knew of advice against co-sleeping in 469/780 (60%, smoking in 660/776 (85%, and prone sleeping in 613/780 (79%. Only 268/777 (35% knew the recommendation to offer a pacifier at bedtime. At enrollment 449/780 (58% did not use a pacifier. Of 210/338 infants aged less than 6 months followed up 41/112 (37% non-users had started using a pacifier at bedtime (NNT 3. Over the same period, 37/98 (38% users had discontinued their pacifier. Otitis media did not differ between users and non-users at 12 months.Conclusion. Caregiver knowledge of the role of pacifiers in SIDS prevention was less than for other recommendations. Our educational intervention appeared to increase pacifier use. Pacifier use was not associated with increased otitis media.

Churg–Strauss Syndrome Presenting with Endobronchial Masses

Directory of Open Access Journals (Sweden)

Veli Çetinsu

2015-12-01

Full Text Available Churg–Strauss syndrome is a condition with unknown etiology and asthma, allergic rhinitis, eosinophilic infiltration of blood and tissues, and transient infiltration of the lungs. It occurs mostly in the 3rd–4th decades of life with an incidence of 2.4/1000000. Presentation frequently involves nodular lung infiltrations, infiltrations with cavity, ground-glass appearance, and alveolar opacity. However, endobronchial mass is an unexpected presentation. In the current case report, we present a 45-year-old male patient who was receiving asthma therapy for 5 years. In the last follow-up visit, we identified a mass in the right hilum on X-ray radiography and performed fiberoptic bronchoscopy. Pathologic examination of biopsy material verified the diagnosis of Churg–Strauss syndrome. Bronchial mass is an unexpected presentation of Churg–Strauss syndrome and pathologic examination is essential to distinguish it from pulmonary malignancies

Primary trabeculodysgenesis in association with neonatal Marfan syndrome

NARCIS (Netherlands)

Whitelaw, CM; Anwar, S; Ades, LC; Gole, GA; Elder, JE; Savarirayan, R

2004-01-01

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

Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome

Directory of Open Access Journals (Sweden)

K K Singh

2015-01-01

Full Text Available Bardet-Biedl syndrome (BBS is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, mental retardation, hypogonadism, and renal involvement. Renal involvement in various forms has been seen in BBS. Cases with nephrotic range proteinuria not responding to steroid have been described in this syndrome. Here we report a case of BBS who presented with nephrotic range proteinuria. The biopsy findings were suggestive of minimal change disease. The child responded well to steroid therapy and remains in remission.

Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome.

Science.gov (United States)

Kobets, Andrew J; Komlos, Daniel; Houten, John K

2018-07-01

Ehler-Danlos syndome (EDS) refers to a group of heritable connective tissue disorders; rare manifestations of which are cervical kyphosis and clinical myelopathy. Surgical treatment is described for the deformity in the thoracolumbar spine in adolescents but not for infantile cervical spine. Internal fixation for deformity correction in the infantile cervical spine is challenging due to the diminutive size of the bony anatomy and the lack of spinal instrumentation specifically designed for young children. We describe the first case of successful surgical treatment in an infant with a high cervical kyphotic deformity in EDS. A 15-month-old female with EDS presented with several months of regression in gross motor skills in all four extremities. Imaging demonstrated 45° of kyphosis from the C2-4 levels with spinal cord compression. Corrective surgery consisted of a C3 corpectomy and C2-4 anterior fusion with allograft block and anterior fixation with dual 2 × 2 hole craniofacial miniplates, supplemented by C2-4 posterior fusion using four craniofacial miniplates fixated to the lamina. Radiographs at 20 months post-surgery demonstrated solid fusion both anteriorly and posteriorly with maintenance of correction. Ehlers-Danlos syndrome may present in the pediatric population with congenital kyphosis from cervical deformity in addition to the more commonly seen thoracolumbar deformities.

Oral Rehabilitation for Amniotic Band Syndrome: An Unusual Presentation.

Science.gov (United States)

Hotwani, Kavita; Sharma, Krishna

2015-01-01

Amniotic band syndrome (ABS) is a congenital disorder caused by entrapment of fetal parts in fibrous amniotic bands while in utero. The syndrome is underdiagnosed and its presentation is variable. The syndrome has been well described in the pediatric, orthopedic and obstetric literature; however, despite the discernable craniomaxillofacial involvement, ABS has not been reported in the dental literature very often. The present report describes a case of a patient with ABS and concomitant dental findings. How to cite this article: Hotwani K, Sharma K. Oral Rehabilitation for Amniotic Band Syndrome: An Unusual Presentation. Int J Clin Pediatr Dent 2015;8(1):55-57.

Presentation of Aural Stimuli to Newborns and Premature Infants: An Audiological Perspective.

Science.gov (United States)

Cassidy

1999-01-01

The purpose of this study was twofold: (a) to examine extant research in the field of music with premature and full term infants in order to identify protocols being used in the presentation of musical stimuli to neonates and (b) to use knowledge gleaned from audiology as a basis for suggesting a standardized protocol for use of musical stimuli with infants. Articles considered appropriate for inclusion in the analysis met the following criteria: (a) presented data for the effects of music on a dependent measure, (b) had subjects who were identified as either premature or term newborns receiving treatment after birth and prior to discharge from the hospital, and (c) used music for some or all of the aural stimuli. Articles (N = 20) were categorized by demographic information, types of aural stimuli, independent variables, dependent measures, and protocol used to present the musical stimuli. Of primary importance to this study was the protocol used in each study to present musical stimuli. Data regarding total duration of stimuli per day, longest duration of stimuli per day, method of stimuli presentation, placement of speakers, decibel level of stimuli, and where;he decibel level was measured reveal that there is no standard protocol being followed with regard to the presentation of aural stimuli. Recommendations include future research on (a) determining a minimum gestational age where music therapy may be appropriate, (b) determining the frequency spectrum perceived by a premature infant, (c) determining the decibel levels reaching the ear drum and assessing appropriate levels for minimum stimulation with maximum results, and (d) carefully considering the method of stimulus presentation as it will have an impact on the decibel level reaching the ear drum of these infants.

The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot.

Science.gov (United States)

Thompson, E; Cadbury, R; Baraitser, M

1985-10-01

A male infant is described with mandibulofacial dysostosis and absent thumbs, consistent with the Nager acrofacial dysostosis syndrome. In addition, the tetralogy of Fallot was present. Major congenital heart malformations occur rarely in this syndrome.

Prune Belly Syndrome | Hammond | South African Medical Journal

African Journals Online (AJOL)

Two cases of prune belly syndrome in Black infants are presented. The prune belly syndrome, or congenital absence of abdominal muscles, is accompanied by hydro-ureter, hydronephrosis, megalocystis and usually undescended testes. Other associated congenital defects occur, of which orthopaedic defects appear to be ...

Premature infant

Science.gov (United States)

... matter Infection or neonatal sepsis Low blood sugar (hypoglycemia) Neonatal respiratory distress syndrome, extra air in the tissue ... Outlook (Prognosis) Prematurity used to be a major cause of infant deaths. Improved medical and nursing techniques ...

Joubert Syndrome

Science.gov (United States)

... CEP290 . View Full Definition Treatment Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing ...

Impact of an educational intervention on caregivers' beliefs about infant crying and knowledge of shaken baby syndrome.

Science.gov (United States)

Bechtel, Kirsten; Le, Kim; Martin, Kimberly D; Shah, Niyati; Leventhal, John M; Colson, Eve

2011-01-01

Shaken baby syndrome (SBS) is the leading cause of traumatic infant death. We examined whether the message about not shaking an infant should be included in the newborn anticipatory guidance provided by pediatric residents. The aim of this study was to determine the impact of an educational intervention (Take 5 Safety Plan for Crying) delivered by pediatric residents at newborn hospital discharge on beliefs about infant crying and knowledge of SBS among caregivers of young infants being treated in an urban primary care center. Structured interviews were done in one convenience sample of caregivers before (historical control group) and in a second set of different caregivers after (intervention group) an educational intervention was implemented at hospital discharge. Logistic regression was used to calculate adjusted associations between the intervention and caregivers' beliefs/knowledge. One hundred ten caregivers were in the historical control group and 112 in the intervention group. The intervention group had more mothers and the infants were younger. Controlling for these differences, intervention group caregivers were more likely to state they would take a break if frustrated with infant crying (OR 3.10, 95% CI, 1.62-5.93), were more likely to state frustration caused infant shaking (OR 2.21, 95% CI, 1.20-4.20), and to state their knowledge of SBS was from hospital staff (OR 3.39, 95% CI, 1.61-4.20). This targeted postpartum intervention incorporated into newborn anticipatory guidance can influence caregivers' beliefs about infant crying and knowledge of SBS. Copyright © 2011 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

Angelman syndrome, cause of epilepsy in infants

International Nuclear Information System (INIS)

Sykora, P.; Vicenova, A.; Svecova, L.; Kolnikova, M.

2014-01-01

Several chromosomal syndromes include brain dysfunction symptoms as mental retardation, developmental speech disorders and epilepsy. Authors present a case report of Angelman syndrome – neuro behavioral disorder associated with deletion in the maternal chromosome 15q 11-g13 causing mutation of the UBE3A gene. The main features consist of psychomotor retardation, developmental speech disorder, ataxia, tremor, hyperactivity, clapping hands, inadequate laughter and happiness, attention deficit and epilepsy. The later starts before the 3rd year of age in form of atypical absences, myoclonic and generalized tonic-clonic seizures. EEG typically shows episodes of slow activity with sharp waves occipitally. Prognosis is poor. Genetic syndromes importantly contribute to the etiology of epilepsy with early seizures. (author)

Bartter syndrome: presentation in an extremely premature neonate.

Science.gov (United States)

Flores, F X; Ojeda, F J; Calhoun, D A

2013-08-01

Reports of Bartter syndrome in premature neonates are rare. We describe the presentation and clinical course of a neonate born at 25.6 weeks estimated gestational age with polyuria, hyponatremia, hypokalemia and hypercalciuria ,who was diagnosed with neonatal Bartter syndrome. The evaluation, diagnosis and management of neonatal Bartter syndrome in this premature neonate are discussed.

An Abdominal Presentation of Churg-Strauss Syndrome

Science.gov (United States)

Rees, J. R. E.; Burgess, P.

2010-01-01

Churg-Strauss syndrome is a small and medium vessel vasculitis that is also known as allergic granulomatous angiitis. It most commonly presents with an asthma like symptoms. It was first described in Mount Siani Hospital, New York in 1951 by Jacob Churg and Lotte Stauss and was recognised after the study of a series of 13 patients who had asthma, eosinophilia, granulomatous inflammation necrotising systemic vasculitis and necrotising glomerulonephritis. We describe a case of Churg-Strauss syndrome presenting with abdominal pain and later during the hospital admission a mono-neuritis multiplex syndrome affecting the lower limbs. The patient presented in such an atypical fashion with abdominal signs and symptoms that they required laparotomy and the diagnosis was made after histological examination of tissue taken at the time of surgery. Treatment with immunosuppression and aggressive rehabilitation achieved a progressive recovery which continued on discharge from hospital. PMID:20814555

Turner′s syndrome presenting as metabolic bone disease

Directory of Open Access Journals (Sweden)

Sadishkumar Kamalanathan

2012-01-01

Full Text Available Turner′s syndrome is a genetic disorder with a complete or partial absence of one X chromosome with characteristic phenotypic features. The prevalence of renal anomalies in turner syndrome is 30-40%. However, the renal function is usually normal. We report a case of Turner′s syndrome presenting with chronic kidney disease and renal osteodystrophy.

A “wear and tear” hypothesis to explain Sudden Infant Death Syndrome (SIDS

Directory of Open Access Journals (Sweden)

Eran Elhaik

2016-10-01

Full Text Available Sudden Infant Death Syndrome (SIDS is the leading cause of death in USA infants under one year of age accounting for approximately 2,700 deaths per year. Although formally SIDS dates back at least 2,000 years and was even mentioned in the Hebrew Bible (Kings 3:19 its etiology remains unexplained prompting the CDC to initiate a sudden unexpected infant death case registry in 2010. Due to their total dependence, the ability of the infant to allostatically regulate stressors and stress responses shaped by genetic and environmental factors is severely constrained. We propose that SIDS is the result of cumulative painful, stressful, or traumatic exposures that begin in utero and tax neonatal regulatory systems incompatible with allostasis. We also identify several putative biochemical mechanisms involved in SIDS. We argue that the important characteristics of SIDS, namely male predominance (60:40, the significantly different SIDS rate in USA Hispanics (80% lower compared to whites, 50% of cases occurring between 7.6 and 17.6 weeks after birth with only 10% after 24.7 weeks, and seasonal variation with most cases occurring during winter, are all associated with common environmental stressors, such as neonatal circumcision and seasonal illnesses. We predict that neonatal circumcision is associated with hypersensitive to pain and decreased heart rate variability which increase the risk for SIDS. We also predict that neonatal male circumcision will account for the SIDS gender bias and that cultures that practice high male circumcision rates, like USA whites, will have higher SIDS rates compared to cultures with lower circumcision rates. SIDS rates will also be higher in USA states where Medicaid covers circumcision and lower among cultures that do not practice neonatal circumcision and/or cannot afford to pay for circumcision. We last predict that winter-born premature infants who are circumcised will be at higher risk of SIDS compared to infants who

Variations in neutrophil count in preterm infants with respiratory distress syndrome who subsequently developed chronic lung disease.

Science.gov (United States)

Kohelet, D; Arbel, E; Ballin, A; Goldberg, M

2000-01-01

Neutrophil counts were studied in 62 preterm infants receiving mechanical ventilation for neonatal respiratory distress syndrome (NRDS). Exploratory analysis indicated that the severity of NRDS, as demonstrated by fractional inspired oxygen (FiO2), mean airway pressure (MAP), arterial-alveolar PO2 ratio (a/APO2) and oxygenation index (OI), was correlated with percentage change of neutrophil counts during the first 5 days of life. Further analysis demonstrated that infants with NRDS who subsequently developed chronic lung disease (CLD) (n = 21) had statistically significant differences in variation of neutrophil counts when compared with the remainder (n = 41) without CLD (-35.0% +/- 4.3 vs. -16.9% +/- 5.8, p variations in neutrophil counts during the first 5 days of life may be found in infants with NRDS who subsequently develop CLD and that these changes may have predictive value regarding the development of CLD.

An Abdominal Presentation of Churg-Strauss Syndrome

Directory of Open Access Journals (Sweden)

J. R. E. Rees

2010-01-01

inflammation necrotising systemic vasculitis and necrotising glomerulonephritis. We describe a case of Churg-Strauss syndrome presenting with abdominal pain and later during the hospital admission a mono-neuritis multiplex syndrome affecting the lower limbs. The patient presented in such an atypical fashion with abdominal signs and symptoms that they required laparotomy and the diagnosis was made after histological examination of tissue taken at the time of surgery. Treatment with immunosuppression and aggressive rehabilitation achieved a progressive recovery which continued on discharge from hospital.

Atypical presentation of HELLP syndrome: clinical case report

Directory of Open Access Journals (Sweden)

Juan Manuel Tobar Parra

2017-12-01

Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.

Neonatology oxidative status in preterm infants with premature preterm rupture of membranes and fetal inflammatuar response syndrome.

Science.gov (United States)

Özalkaya, Elif; Karatekin, Güner; Topçuoğlu, Sevilay; Karatepe, Hande Özgün; Hafızoğlu, Taner; Baran, Pervin; Ovalı, Fahri

2017-10-01

The aim of this study, to determine an index of oxidative stress index in preterm infants less than 34 weeks gestational age with premature preterm rupture of membrane (PPROM) and fetal inflammatory response syndrome (FIRS). This study was designed as a prospective study. Fifty-one premature infants less than 35 weeks of gestational age were included in the study. The umbilical cord blood concentrations of IL-6, TAC (total antioxidant capacity) and PON-1 (paraoxonase-1) levels and TOS (total oxidative stress) were studied. The oxidative stress index (OSI = TAC/TOS) was calculated in all of prematüre infants. PPROM was defined as rupture of membranes at least 24 hours before the onset of labor. FIRS was defined by an umbilical cord IL-6 level greater than 11 pg/mL. Premature infants included in the study were divided into 4 groups. Group 1 included preterm infants without FIRS and with PPROM (n = 16), while Group 2 included preterm infants without PPROM and with FIRS (n = 9), Group 3 consisted of premature infants with PPROM and FIRS (n = 21) and Group 4 included premature infants without PPROM or FIRS (n = 5). Umbilical cord TOS level was found to be higher in the preterm infants without FIRS and with PPROM (36.1 μmol H 2 O 2 Equiv./L) compared to the preterm infants without PPROM or FIRS (11.9 μmol H 2 O 2 Equiv./L) (p = 0.03). Umbilical cord PON-1 level was found to be lower in the preterms without FIRS and with PPROM (32 U/L), preterms without PPROM and with FIRS (30. 3 U/L) and the preterm infants with both PPROM and FIRS (48.6 U/L) compared to the preterm infants having no PPROM or FIRS (85.6 U/L) (p = 0.001). High pro-oxidant capacity was found in PPROM and low antioxidant capacity in PPROM and FIRS. Copyright © 2017. Published by Elsevier B.V.

Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus.

Science.gov (United States)

Brugnara, Milena; Gaudino, Rossella; Tedeschi, Silvana; Syrèn, Marie-Louise; Perrotta, Silverio; Maines, Evelina; Zaffanello, Marco

2014-09-01

We report the case of an infant boy with polyuria and a familial history of central diabetes insipidus. Laboratory blood tests disclosed hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Plasma magnesium concentration was slightly low. Urine analysis showed hypercalciuria, hyposthenuria, and high excretion of potassium. Such findings oriented toward type III Bartter syndrome (BSIII). Direct sequencing of the CLCNKB gene revealed no disease-causing mutations. The water deprivation test was positive. Magnetic resonance imaging showed a lack of posterior pituitary hyperintensity. Finally, direct sequencing of the AVP-NPII gene showed a point mutation (c.1884G>A) in a heterozygous state, confirming an autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI). This condition did not explain the patient's phenotype; thus, we investigated for Gitelman syndrome (GS). A direct sequencing of the SLC12A3 gene showed c.269A>C and c.1205C>A new mutations. In conclusion, the patient had a genetic combination of GS and adFNDI with a BSIII-like phenotype.

Language Development in Infants and Toddlers with Fragile X Syndrome: Change over Time and the Role of Attention

Science.gov (United States)

Kover, Sara T.; McCary, Lindsay M.; Ingram, Alexandra M.; Hatton, Deborah D.; Roberts, Jane E.

2015-01-01

Fragile X syndrome (FXS) is associated with significant language and communication delays, as well as problems with attention. This study investigated early language abilities in infants and toddlers with FXS (n = 13) and considered visual attention as a predictor of those skills. We found that language abilities increased over the study period of…

NEPHROTIC SYNDROME: PAST, PRESENT AND FUTURE

Directory of Open Access Journals (Sweden)

M. S. Ignatova

2017-01-01

Full Text Available This literature review is focused to change our ideas about the etiology, pathogenesis and treatment tactics of the nephrotic syndrome  in recent decades. The change in the treatment outcomes of the primary nephrotic syndrome in connection with the emergence of new  therapy technologies, is shown. Features of the course, examination and therapy of congenital and infantile nephrotic syndrome and  the possibility of the debut of a nephrotic syndrome associated with various gene mutations and at an older age are presented. Principal differences in diagnostic and therapeutic approaches are accentuated depending on the cause of the development of the disease.  Modern syndromological and pathogenetic methods of therapy of primary nephrotic syndrome are presented, and the immediate opportunities for the introduction of new treatment technologies based on the use of monoclonal antibodies, are shown.

[Sensitivity and specificity of the cerebral blood flow reactions to acupuncture in the newborn infants presenting with hypoxic ischemic encephalopathy].

Science.gov (United States)

Filonenko, A V; Vasilenko, A M; Khan, M A

2015-01-01

To evaluate the effects of acupuncture integrated into the standard therapy, the condition of cerebral blood flow, and other syndromes associated with cerebral ischemia in the newborn infants. MATERIAL AND METHODS. A total of 131 pairs of puerperae and newborns with hypoxic ischemic encephalopathy were divided into four treatment groups. 34 children of the first group were given standard therapy (control), in the second group comprised of 33 mothers and children the standard treatment was supplemented by acupuncture, the third group included only 32 mothers given the acupuncture treatment alone, and the fourth group contained only 32 newborn infants treated by acupuncture. Each course of acupuncture treatment consisted of five sessions. Sensitivity and specificity of cerebral blood flow reactions were determined based on the results of the ROC-analysis and the area under the curve before and after the treatment. The treatment with the use of acupuncture greatly improved the cerebrospinal hemodynamics (p newborn babies. The high level of sensitivity (84.4-94.8%) associated with good specificity makes it possible to distinguish between the true positive and true negative cases. Acupuncture integrated into the treatment of "mother-baby" pairs presenting with hypoxic ischemic encephalopathy can be used to improve the initially low level of cerebral blood flow in neonates presenting with this condition.

Neonatal abstinence syndrome: Neurobehavior at 6 weeks of age in infants with or without pharmacological treatment for withdrawal.

Science.gov (United States)

Heller, Nicole A; Logan, Beth A; Morrison, Deborah G; Paul, Jonathan A; Brown, Mark S; Hayes, Marie J

2017-07-01

Use and abuse of prescription opioids and concomitant increase in Neonatal Abstinence Syndrome (NAS), a condition that may lead to protracted pharmacological treatment in more than 60% of infants, has tripled since 2000. This study assessed neurobehavioral development using the NICU Network Neurobehavioral Scale in 6-week old infants with prenatal methadone exposure who did (NAS+; n = 23) or did not (NAS-; n = 16) require pharmacological treatment for NAS severity determined by Finnegan Scale. An unexposed, demographically similar group of infants matched for age served as comparison (COMP; n = 21). NAS+, but not NAS- group, had significantly lower scores on the regulation (p < .01) and quality of movement (p < .01) summary scales than the COMP group. The NAS+ and NAS- groups had higher scores on the stress-abstinence scale than the COMP group (p < .05). NAS diagnosis (NAS +) was associated with poorer regulation and quality of movement at 6 weeks of age compared to infants without prenatal methadone exposure from the same demographic. © 2017 Wiley Periodicals, Inc.

Prune belly syndrome. A focused physical assessment.

Science.gov (United States)

Woods, Amanda G; Brandon, Debra H

2007-06-01

Prune belly syndrome, a rare congenital anomaly, exists almost exclusively in males and consists of genital and urinary abnormalities with partial or complete absence of abdominal wall musculature. The syndrome, caused by urethral obstruction early in development, is the result of massive bladder distention and urinary ascites, leading to degeneration of the abdominal wall musculature and failure of testicular descent. The impaired elimination of urine from the bladder leads to oligohydramnios, pulmonary hypoplasia, and Potter's facies. The syndrome has a broad spectrum of affected anatomy with different levels of severity. The exact etiology of prune belly syndrome is unknown, although several embryologic theories attempt to explain the anomaly. With advances in prenatal screening techniques, the diagnosis and possible treatment of prune belly syndrome can occur before birth, although controversy exists on the proper management of prune belly syndrome. This article explores the theories behind the pathophysiology and embryology of prune belly syndrome and its multisystemic effects on the newborn infant. Specific attention is paid to presentation, clinical features, head-to-toe physical assessment, family support, and nursing care of infants with prune belly syndrome.

Lemierre's Syndrome Complicating Pregnancy

Directory of Open Access Journals (Sweden)

M. Thompson

2007-01-01

Full Text Available Lemierre's syndrome is an anaerobic suppurative thrombophlebitis involving the internal jugular vein secondary to oropharyngeal infection. There is only one previous case report in pregnancy which was complicated by premature delivery of an infant that suffered significant neurological damage. We present an atypical case diagnosed in the second trimester with a live birth at term. By reporting this case, we hope to increase the awareness of obstetricians to the possibility of Lemierre's syndrome when patients present with signs of unabating oropharyngeal infection and pulmonary symptoms.

Definition of Sudden Infant Death and Sudden Intrauterine Unexpected Death Syndromes (SIDS and SIUDS with Regard to the Anatomo-Pathological Examination

Directory of Open Access Journals (Sweden)

Giulia Ottaviani

2016-09-01

Full Text Available Crib death, or sudden infant death syndrome (SIDS, is the most frequent form of death in the first year of life, striking one baby in every 1,700–2,000. Yet despite advances in maternal-infant care, sudden intrauterine unexplained/unexpected death syndrome (SIUDS, has a six-eightfold greater incidence than that of SIDS. Frequent congenital abnormalities, likely morphological substrates for SIDS-SIUDS, were detected, mainly represented by alterations of the cardiac conduction system, such as accessory pathways and abnormal resorptive degeneration, and hypoplasia/agenesis of the vital brainstem structures. On the basis of these considerations, the new common definition of the SIDS-SIUDS complex is The sudden death of a fetus after the 25th gestational week or infant under one year of age which is unexpected by history and remains unexplained after a thorough case investigation, including examination of the death scene, performance of a general autopsy and examination of the fetal adnexa. Therefore, given that the general autopsy does not disclose any cause of death, a more in-depth histopathological analysis of the cardiac conduction system and autonomic nervous system by specialized pathologists will become necessary.

A Context-Aware Indoor Air Quality System for Sudden Infant Death Syndrome Prevention

Directory of Open Access Journals (Sweden)

Daniel H. De La Iglesia

2018-03-01

Full Text Available Context-aware monitoring systems designed for e-Health solutions and ambient assisted living (AAL play an important role in today’s personalized health-care services. The majority of these systems are intended for the monitoring of patients’ vital signs by means of bio-sensors. At present, there are very few systems that monitor environmental conditions and air quality in the homes of users. A home’s environmental conditions can have a significant influence on the state of the health of its residents. Monitoring the environment is the key to preventing possible diseases caused by conditions that do not favor health. This paper presents a context-aware system that monitors air quality to prevent a specific health problem at home. The aim of this system is to reduce the incidence of the Sudden Infant Death Syndrome, which is triggered mainly by environmental factors. In the conducted case study, the system monitored the state of the neonate and the quality of air while it was asleep. The designed proposal is characterized by its low cost and non-intrusive nature. The results are promising.

Strategic Reactions to Infants: Female Self-Presentation in a Romantic Context

Directory of Open Access Journals (Sweden)

Dina Dosmukhambetova

2013-04-01

Full Text Available Research has demonstrated that humans engage in various self-presentational behaviours in the context of mate attraction. We build and expand on these efforts by showing that female facial behaviour also responds to the manipulation of romantic motivation in ways congruent with the logic of evolutionary theory. Given that childbearing is an important goal of human courtship, we hypothesized that during the initial stages of romantic encounters one way that women can advertize their quality is through their emotional reactions to children. Two studies were conducted to determine whether women would self-present in the context of romance by augmenting positive reactions (e.g., smiling more or by attenuating negative reactions (e.g., frowning less. In both studies participants were undergraduate psychology students. Study 1 was an online study; it examined reported facial expressions towards and cognitive evaluations of infants. Study 2 was a laboratory study in which participants' spontaneous facial behavior was videotaped while they watched a video of infants (vs. a neutral film. In both studies we found support only for the hypothesis that, when in a romantic context, women attenuate negative reactions. Such attenuation was found for facial expressions, but not for cognitive or affective evaluations of infants.

Strategic reactions to infants: female self-presentation in a romantic context.

Science.gov (United States)

Dosmukhambetova, Dina; Manstead, Antony S R

2013-04-07

Research has demonstrated that humans engage in various self-presentational behaviours in the context of mate attraction. We build and expand on these efforts by showing that female facial behaviour also responds to the manipulation of romantic motivation in ways congruent with the logic of evolutionary theory. Given that childbearing is an important goal of human courtship, we hypothesized that during the initial stages of romantic encounters one way that women can advertize their quality is through their emotional reactions to children. Two studies were conducted to determine whether women would self-present in the context of romance by augmenting positive reactions (e.g., smiling more) or by attenuating negative reactions (e.g., frowning less). In both studies participants were undergraduate psychology students. Study 1 was an online study; it examined reported facial expressions towards and cognitive evaluations of infants. Study 2 was a laboratory study in which participants' spontaneous facial behavior was videotaped while they watched a video of infants (vs. a neutral film). In both studies we found support only for the hypothesis that, when in a romantic context, women attenuate negative reactions. Such attenuation was found for facial expressions, but not for cognitive or affective evaluations of infants.

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

Science.gov (United States)

Mohamed, Sarar; Osman, Abdaldafae; Al Jurayyan, Nasir A; Al Nemri, Abdulrahman; Salih, Mustafa A M

2014-03-28

Congenital toxoplasmosis has a wide range of presentation at birth varying from severe neurological features such as hydrocephalus and chorioretinitis to a well appearing baby, who may develop complications late in infancy. While neuroendocrine abnormalities associated with congenital toxoplasmosis are uncommon, isolated central diabetes insipidus is extremely rare. Here, we report on a female infant who presented with fever, convulsions, and polyuria. Examination revealed weight and length below the 3rd centile along with signs of severe dehydration. Fundal examination showed bilateral chorioretinitis. This infant developed hypernatremia together with increased serum osmolality and decreased both urine osmolality and specific gravity consistent with central diabetes insipidus. Serology for toxoplasma specific immunoglobulin M was high for both the mother and the baby and polymerase chain reaction for toxoplasma deoxyribonucleic acid was positive in the infant confirming congenital toxoplasmosis. Brain computerized tomography scans demonstrated ventriculomegaly associated with cerebral and cortical calcifications. Fluid and electrolyte abnormalities responded to nasal vasopressin therapy. This report highlights central diabetes inspidus as a rare presentation of congenital toxoplasmosis.

Genetics Home Reference: Costello syndrome

Science.gov (United States)

... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome , which are caused by mutations in related genes. ...

SIDS and other sleep-related infant deaths: expansion of recommendations for a safe infant sleeping environment.

Science.gov (United States)

Moon, Rachel Y

2011-11-01

Despite a major decrease in the incidence of sudden infant death syndrome (SIDS) since the American Academy of Pediatrics (AAP) released its recommendation in 1992 that infants be placed for sleep in a nonprone position, this decline has plateaued in recent years. Concurrently, other causes of sudden unexpected infant death occurring during sleep (sleep-related deaths), including suffocation, asphyxia, and entrapment, and ill-defined or unspecified causes of death have increased in incidence, particularly since the AAP published its last statement on SIDS in 2005. It has become increasingly important to address these other causes of sleep-related infant death. Many of the modifiable and nonmodifiable risk factors for SIDS and suffocation are strikingly similar. The AAP, therefore, is expanding its recommendations from being only SIDS-focused to focusing on a safe sleep environment that can reduce the risk of all sleep-related infant deaths including SIDS. The recommendations described in this report include supine positioning, use of a firm sleep surface, breastfeeding, room-sharing without bed-sharing, routine immunization, consideration of a pacifier, and avoidance of soft bedding, overheating, and exposure to tobacco smoke, alcohol, and illicit drugs. The rationale for these recommendations is discussed in detail in this technical report. The recommendations are published in the accompanying "Policy Statement--Sudden Infant Death Syndrome and Other Sleep-Related Infant Deaths: Expansion of Recommendations for a Safe Infant Sleeping Environment," which is included in this issue (www.pediatrics.org/cgi/doi/10.1542/peds.2011-2220).

Evoking communication in Rett syndrome: comparisons with conversations and games in mother-infant interaction.

Science.gov (United States)

Burford, B; Trevarthen, C

1997-01-01

Girls with Rett syndrome retain a responsiveness with care-givers that corresponds in many respects with the preverbal communication observed with normal infants. This has characteristic rhythmic patterns and phrases, mutual imitation, reciprocal emotional phases and rudimentary oral, vocal and gestural expressions. After individuals with Rett syndrome have passed the critical stage in dissolution of their attention, co-ordination and voluntary control, they retain positive orientation to human faces and eyes with smiling. Video analyses show that they can engage with rhythms and phrases of conversation, sometimes showing a sense of humour and sensitivity to playful teasing. They respond to repeated patterns of expression in rhythmic/prosodic play and to certain forms in music. It is suggested that sensitive and appropriately attuned support for the rudimentary motives for human contact that survive in Rett syndrome can help stabilisation of self-regulatory states, alleviate panic and confusion and facilitate learning. The effects of the disorder may be a consequence of a genetic fault in the elaboration of an Intrinsic Motive Formation in the reticular core of the embryo brain, leading to dysregulation of differentiation in higher cognitive systems and learning, but leaving partially intact motive principles for human intersubjective response.

A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome

Directory of Open Access Journals (Sweden)

Christina E. Brzezniak

2017-04-01

Full Text Available Carcinoid tumors are neuroendocrine tumors that mainly arise in the gastrointestinal tract, lungs, and bronchi. Bronchopulmonary carcinoids have been associated with Cushing syndrome, which results from ectopic adrenocorticotrophic hormone (ACTH secretion. We report the case of a 65-year-old man, a colonel in the US Air Force, with metastatic bronchopulmonary carcinoid tumors treated on a clinical trial who was hospitalized for complaints of increasing thirst, polydipsia, polyuria, weakness, and visual changes. Decompensated hyperglycemia suggested a diagnosis of hyperglycemic hyperosmolar nonketotic syndrome (HHNS. Additional findings, which included hypokalemia, hypernatremia, hypertension, metabolic alkalosis, moon facies, and striae, raised a red flag for an ectopic ACTH syndrome. Elevated ACTH levels confirmed Cushing syndrome. Treatment with a fluid replacement and insulin drip resulted in immediate symptomatic improvement. Cushing syndrome should be considered in carcinoid patients with physical stigmata such as moon facies and striae. HHNS may be the presenting clinical feature in patients with impaired glucose metabolism.

IRRITATED BOWEL SYNDROME IN CHILDREN

Directory of Open Access Journals (Sweden)

V. F. Privorotskiy

2012-01-01

Full Text Available Irritated bowel syndrome is a significant and underestimated problem in childhood. This condition is not so good studied in pediatrics in comparison with adult practice. Pediatricians often diagnosed this disease in infants and young children without proper reasons. The authors analyze current opinions about etiology and pathogenesis, clinical presentation, diagnosticsand treatment of irritated bowel syndrome in children. An emphasis is made on diagnostic criteria, which allow suggesting and confirming the diagnosis.

Fatal Cytomegalovirus Gastrointestinal Disease in an Infant with Wiskott-Aldrich Syndrome

Directory of Open Access Journals (Sweden)

Kuan-Ying Huang

2008-01-01

Full Text Available Although most cytomegalovirus (CMV infections are asymptomatic or cause only mild disease, the virus can cause serious disease and even mortality in immunocompromised children. In patients with WiskottAldrich syndrome (WAS, recurrent CMV infection is infrequently seen. A 3-month-old male infant was referred to Chang Gung Children's Hospital due to persistent thrombocytopenia and intermittent tachypnea. WAS complicated with CMV pneumonitis was diagnosed subsequently. He was discharged at the age of 7 months after a complete course of antiviral treatment. Unfortunately, refractory hemorrhagic gastritis developed later and recurred in spite of antiviral treatment and intravenous immunoglobulin. The patient died of recurrent gastrointestinal bleeding at the age of 23 months. This observation indicates that a case of WAS complicated with CMV gastrointestinal disease may need more vigorous treatment.

Does β-APP staining of the brain in infant bed-sharing deaths differentiate these cases from sudden infant death syndrome?

DEFF Research Database (Denmark)

Jensen, Lisbeth Lund; Banner, Jytte; Byard, Roger W

2014-01-01

between bed-sharers and non-bed-sharers with a male to female ratio of 1:1 in the first group and 2:1 in the latter. Of 48 Australian and 76 Danish SIDS infants, β-APP staining was present in 116 (94%) cases. The eight negative cases were all from the Danish cohort. This study has shown that the amount...... with sleeping situation (shared vs. alone) showing a significantly higher amount of β-APP staining in the non-bed-sharing, than in the bed-sharing infants (Mann-Whitney, Australia: p = 0.0128, Denmark: p = 0.0014, Combined: p = 0.0031). There was also a marked but non-significant difference in sex distribution...... of β-APP staining was significantly higher in infants who were sleeping alone compared to those who were bed-sharing with one or more adults, in both an Australian and Danish cohort of SIDS infants. Whether this results from differences in the speed with which these infants die, differences in lethal...

Sepsis-like disease in infants due to human parechovirus type 3 during an outbreak in Australia.

Science.gov (United States)

Khatami, Ameneh; McMullan, Brendan J; Webber, Murray; Stewart, Phoebe; Francis, Stephanie; Timmers, Karin J; Rodas, Elicia; Druce, Julian; Mehta, Bhavesh; Sloggett, Nichola A; Cumming, Germaine; Papadakis, Georgina; Kesson, Alison M

2015-01-15

Infections with human parechoviruses (HPeVs) are associated with a wide range of clinical presentations in children, ranging from mild or asymptomatic infections to severe sepsis-like presentations or meningoencephalitis. We reviewed medical records of infants admitted to 5 hospitals in New South Wales, Australia, during an outbreak of HPeV-3 infection. Data were collected on clinical presentation, laboratory markers, and outcome of infants with HPeV infection confirmed by reverse transcription polymerase chain reaction. We identified 118 infected infants. Most presented with an acute sepsis-like syndrome with high fever, tachycardia, poor perfusion, and severe irritability. Other common features were erythrodermic rash, abdominal distension, edema, and hepatitis. The age range of infants was 4 days to 9.5 months; 75% were <2 months old, including all but 1 of the 30 infants (25%) admitted to intensive care units (ICUs), who as a group, were significantly younger than infants not admitted to ICUs. Only 4% of evaluable cerebrospinal fluid samples had pleocytosis, but HPeV was detected in 95%. Brain magnetic resonance imaging on a small number of children demonstrated white matter changes and diffusion restriction. Sequencing of the VP1 gene confirmed HPeV-3 in all samples tested. All children recovered without ongoing complications at last follow-up. We report the largest series of HPeV-3 infection in infants, and the first outbreak in Australia. Infants presented with a severe sepsis-like syndrome with a high rate of ICU admissions, but all recovered from the acute infection without complications. Long-term sequelae are unknown. © The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Severe acute post-streptococcal glomerulonephritis in an infant

Directory of Open Access Journals (Sweden)

Jameela A Kari

2013-01-01

Full Text Available Acute post-streptococcal glomerulonephritis (APSGN is very rare below the age of two years. We report a 14-month-old girl who presented with frank hematuria and nephrotic syndrome following group A streptococcal pharyngitis (GAS, which was confirmed by laboratory investigations. The patient underwent a renal biopsy to confirm the diagnosis and was treated with prednisolone. The proteinuria and hematuria resolved completely in eight weeks. Our case demonstrates that APSGN should be considered in evaluating hematuria and nephrotic syndrome in infants and children below two years of age.

Ethamsylate reduces immunoreactive prostacyclin metabolite in low birthweight infants with respiratory distress syndrome.

Science.gov (United States)

Rennie, J M; Doyle, J; Cooke, R W

1986-12-01

Measurement of 6 ketoprostaglandin F1 alpha was made by radioimmunoassay during the first 3 days of life in 33 infants with respiratory distress syndrome who were subjects in a double blind controlled trial of ethamsylate for the prevention of intraventricular haemorrhage. Levels of 6-ketoprostaglandin F1 alpha were significantly lower on the first and second days of life in babies receiving ethamsylate. There was a reduction in the incidence of intraventricular haemorrhage in the treated group. High levels of prostacyclin metabolite are found in babies who develop haemorrhage, and reduction of prostacyclin synthetase activity may be the mode of action of this drug in vivo.

Comparing effects of Beractant and Poractant alfa in decreasing mortality rate due to respiratory distress syndrome in premature infants

Directory of Open Access Journals (Sweden)

Saeidi R

2011-02-01

Full Text Available "nBackground: Exogenous natural and synthetic surfactants is a rescue treatment for respiratory distress syndrome (RDS. The goals of the study were to compare the clinical response and side-effects of two frequently used surfactants, poractant alfa (Curosurf and beractant (Survanta, for the treatment of respiratory distress syndrome in preterm infants."n "nMethods: This clinical trial study was performed during a two-year period in the Neonatal Intensive Care Unit of Ghaem Hospital in Mashhad, Iran. Sample size calculated by a 95% confidence and power of 80, included 104 premature neonates, 74 in survanta and 30 in curosurf groups. The level of statistical significance was considered to be < 0.05."n "nResults: There were no statistically significant differences between the infants treated by survanta or cursurf groups regarding their mean gestational age (30.58 Vs. 29.00 weeks and birth weight (1388 Vs. 1330 g, (p=0.3 There were also no significant differences between the two groups regarding incidences of broncho- pulmonary dysplasia (BPD (40.5% Vs. 40%, intraventricular hemorrhage (IVH grades III/IV (13.5% Vs. 13.3%, pneumothorax (both 20%, patent ductus arteriosus (PDA (28/3% Vs. 20% or death (28% Vs. 26.6% on the 28th day postpartum."n "nConclusion: This study showed that survanta and curosurf had similar therapeutic effects in the treatment of neonatal respiratory distress syndrome.

Interactions of infectious symptoms and modifiable risk factors in sudden infant death syndrome. The Nordic Epidemiological SIDS study

DEFF Research Database (Denmark)

Helweg-Larsen, K; Banner, Jytte; Oyen, N

1999-01-01

The aim of the study was to investigate the effect of infection on sudden infant death syndrome (SIDS) and to analyse whether modifiable risk factors of SIDS, prone sleeping, covered head and smoking act as effect modifiers. In a consecutive multicentre case-control study of SIDS in Denmark, Norway...... regression. Significantly more cases than controls presenting symptoms of infectious diseases during the last week and/or last day were treated with antibiotics and had been seen by a physician. The finding is consistent with the hypothesis of an infectious mechanism in SIDS induced by local microorganism......, prone sleeping, head covered or parental smoking, was far greater than the sum of each individual factor. These risk factors thus modify the dangerousness of infection in infancy....

Neonatal bartter syndrome

International Nuclear Information System (INIS)

Parkash, J.; Salat, S. M.; Khan, I.A.

2006-01-01

A pre-term baby girl was born following a pregnancy complicated by severe polyhydramnios at a gestational age of 36 weeks. She was initially suffering from respiratory distress consistent with idiopathic respiratory distress syndrome, and altered electrolyte imbalance with hyponatremia, hypokalemia and hypochloremic metabolic alkalosis. However, during the third week of life when she had dehydration along with significant electrolyte imbalance, Bartter's syndrome was considered which was supported by findings of high renin and aldosterone levels. Treatment was done by correction of electrolytes and dehydration along with indomethacin. The drug was well tolerated. The infant showed correction of electrolyte imbalance. The features of this case suggest an extreme form of Bartter's syndrome presenting from the early days of life. The syndrome is reported because of it's rarity and alerts pediatricians to the antenatal and neonatal variant of Bartter's syndrome. (author)

Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome.

Science.gov (United States)

Bouchireb, Karim; Boyer, Olivia; Mansour-Hendili, Lamisse; Garnier, Arnaud; Heidet, Laurence; Niaudet, Patrick; Salomon, Remi; Poussou, Rosa Vargas

2014-08-11

Gitelman syndrome is an autosomal recessive tubulopathy characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. The majority of patients do not present with symptoms until late childhood or adulthood, and the symptoms are generally mild. We report here the first case of Gitelman syndrome presenting with the biological features of Fanconi syndrome and an early polyuria since the neonatal period. We discuss in this article the atypical electrolytes losses found in our patient, as well as the possible mechanisms of severe polyuria. A 6-year-old Caucasian girl was admitted via the Emergency department for vomiting, and initial laboratory investigations found hyponatremia, hypokalemia, metabolic acidosis with normal anion gap, hypophosphatemia, and hypouricemia. Urinalysis revealed Na, K, Ph and uric acid losses. Thus, the initial biological profile was in favor of a proximal tubular defect. However, etiological investigations were inconclusive and the patient was discharged with potassium chloride and phosphorus supplementation. Three weeks later, further laboratory analysis indicated persistent hypokalemia, a metabolic alkalosis, hypomagnesemia, and hypocalciuria. We therefore sequenced the SLC12A3 gene and found a compound heterozygosity for 2 known missense mutations. Gitelman syndrome can have varying and sometimes atypical presentations, and should be suspected in case of hypokalemic tubular disorders that do not belong to any obvious syndromic entity. In this case, the proximal tubular dysfunction could be secondary to the severe hypokalemia. This report emphasizes the need for clinicians to repeat laboratory tests in undiagnosed tubular disorders, especially not during decompensation episodes.

A case of piriformis syndrome presenting as radiculopathy

Directory of Open Access Journals (Sweden)

Rammurthy Kulkarni

2015-01-01

Full Text Available Piriformis syndrome has always remained as a diagnostic dilemma because of its varied presentation. Piriformis syndrome is myofascial dysfunction syndrome which causes pain not only because of trigger points within the muscle but also due to peripheral neuritis of the sciatic nerve. The sciatic neuritis is due to compression of the nerve as it passes through the greater sciatic foramen. The symptoms of sciatic nerve entrapment caused by the piriformis syndrome can be easily mistaken for radiculopathy as the nerve entrapment causes pain which radiates down below the knee and can go up to the foot. Electromyography (EMG and nerve conduction velocity (NCV studies can help differentiating these two conditions and can eliminate the need for the magnetic resonance imaging (MRI. In this paper, we have reported a case of piriformis syndrome which mimicked S 1 radiculopathy, where diagnosis was confirmed by diagnostic piriformis injection.

Congenital Leukemia in Down's syndrome

International Nuclear Information System (INIS)

Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

2006-01-01

Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

Unusual presentation of uncommon disease: anorexia nervosa presenting as wernicke-korsakoff syndrome-a case report from southeast Asia.

Science.gov (United States)

Mushtaq, Raheel; Shoib, Sheikh; Shah, Tabindah; Bhat, Mudasir; Singh, Randhir; Mushtaq, Sahil

2014-01-01

Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome.

A retrospective evaluation of term infants treated with surfactant therapy

Directory of Open Access Journals (Sweden)

Özge Sürmeli-Onay

2015-04-01

Full Text Available Aim: To investigate the clinical and therapeutic characteristics and outcomes of term infants who received surfactant therapy (ST for severe respiratory failure in our neonatal intensive care unit (NICU. Methods: The medical records of term infants (gestational age ≥ 370/7 weeks who received ST between 2003-2012 in NICU of Hacettepe University Ihsan Dogramaci Children’s Hospital were evaluated retrospectively. Results: During ten years period, 32 term infants received ST; the mean gestational age was 38.1 ± 0.88 wk and the mean birth weight was 2,936 ± 665 g. The underlying lung diseases were severe congenital pneumonia (CP in 13 (40.6%, acute respiratory distress syndrome (ARDS in 5 (15.6%, meconium aspiration syndrome (MAS in 5 (15.6%, congenital diaphragmatic hernia (CDH in 4 (12.5%, respiratory distress syndrome in 3 (9.4% and pulmonary hemorrhage in 2 (6.3% infants. The median time of the first dose of ST was 7.75 (0.5-216 hours. Pulmonary hypertension accompanied the primary lung disease in 9 (28.1% infants. Mortality rate was 25%. Conclusion: In term infants, CP, ARDS and MAS were the main causes of respiratory failure requiring ST. However, further prospective studies are needed for defining optimal strategies of ST in term infants with respiratory failure.

Low cerebrospinal fluid hypocretin levels during sudden infant death syndrome (SIDS) risk period.

Science.gov (United States)

Lancien, Marion; Inocente, Clara Odilia; Dauvilliers, Yves; Kugener, Beatrice; Scholz, Sabine; Raverot, Veronique; Lin, Jian-Sheng; Guyon, Aurore; Gustin, Marie-Paule; Franco, Patricia

2017-05-01

The temporal association between sudden infant death syndrome (SIDS) and sleep suggests that the arousability from sleep provides a protective mechanism for survival. Recently, the hypocretin system, which promotes wakefulness, has been implicated in SIDS, since it has been reported that SIDS victims have fewer hypocretin neurons than infants who have died from other causes. To understand the role of hypocretin in SIDS, it is essential to better understand how this system matures. The present study compared cerebrospinal fluid (CSF) hypocretin in children aged 2-6 months, which is the age of peak incidence for SIDS, to both younger and older children. Hypocretin levels were measured in CSF samples from 101 children who underwent a clinically relevant lumbar puncture. Children were separated into five age groups: 0-2 months, 2-6 months, 1-5 years, 5-10 years, and 10-18 years. Hypocretin levels were not significantly different between 1-5 years, 5-10 years, and 10-18 years. Therefore, these three groups were pooled into a single one (1-18 years) for further analysis. Between the 0-2 month, 2-6 month, and 1-18 year groups, a significant difference in CSF hypocretin levels existed (p = 0.001). Simple comparisons showed that CSF hypocretin levels in the 2-6 month age group were significantly lower than hypocretin levels in both the 0-2 month and 1-18 year group (p hypocretin levels were lower at the age of peak incidence for SIDS. This could underlie an increased vulnerability to SIDS at this specific age. Copyright © 2017. Published by Elsevier B.V.

One patient with Sjogren’s syndrome presenting schizophrenia-like symptoms

Directory of Open Access Journals (Sweden)

Lin CE

2016-03-01

Full Text Available Ching-En Lin1,2 1Department of Psychiatry, Taipei Tzu-Chi Hospital, Buddhist Medical Foundation, Taiwan, Republic of China; 2School of Medicine, Tzu-Chi University, Hualien, Taiwan, Republic of China Abstract: Comorbid depression in patients with Sjogren’s syndrome has been reported frequently, while comorbid psychosis in subjects with Sjogren’s syndrome has rarely been reported. Here we report a patient with Sjogren’s syndrome who presented with schizophrenia-like symptoms such as persecutory delusions and auditory hallucinations in contrast to her previous psychiatric presentations, which only included depression and anxiety. Keywords: mental illness, psychosis, Sjogren’s syndrome, schizophrenia

Presenting A Case with Tubulointerstitial Nephritis and Uveitis (TINU- Syndrome

Directory of Open Access Journals (Sweden)

E Fotouhi Ardakani

2008-10-01

Full Text Available Concurrence of interstitial nephritis and uveitis named tubulointestitioal nephritis and uveitis syndrome (TINU are unusual and uncommon presentations of interstitial nephritis. This syndrome is considered after ruling out other differential diagnoses. A-38-year old man presented with acute renal failure and uveitis. The histologic findings of renal biopsy showed acute tubulointestitioal nephritis. The patient had no clinical and paraclinical manifestations of other etiologies of interstitial nephritis and uveitis such as Wegener's granulomatosis , Sjogren's syndrome or sarcoidosis. The diagnosis of TINU-Syndrome was therefore considered. The patient was treated by oral and ophthalmic prednisolone and had a good response to treatment.

X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis.

Science.gov (United States)

Gallagher, Joel; Adams, Juan; Hintermeyer, Mary; Torgerson, Troy R; Lopez-Guisa, Jesus; Ochs, Hans D; Szabo, Sara; Salib, Mina; Verbsky, James; Routes, John

2016-08-01

X-linked hyper IgM syndrome (XHIGM) is a combined immunodeficiency caused by mutations in the CD40 ligand (CD40L) gene that typically results in decreased or absent CD40L expression on activated T cells, leading to defective class switching and somatic hypermutation. We describe an infant who presented with respiratory failure due to pulmonary alveolar proteinosis (PAP) with a novel damaging missense mutation in the CD40L gene. Whole exome sequencing (WES) was used to identify a mutation in the CD40L gene. CD40L expression and function were determined by flow cytometry. A 5-month-old previously-healthy male presented with respiratory failure and diffuse pulmonary ground glass opacities on CT scan of the chest. Laboratory evaluation revealed an undetectable IgG, normal IgA, and elevated IgM. A bronchoalveolar lavage demonstrated pulmonary alveolar proteinosis. WES demonstrated a c.608G > C mutation in the CD40L gene resulting in p.R203T. Flow cytometry demonstrated normal CD40L expression on activated T cells but absent binding of CD40-Ig to CD40L on activated patient T cells. The clinical manifestations of XHIGM in our patient had several unique features, including the presentation with PAP, normal serum IgA, and expression of non-functional CD40L on activated T cells. To our knowledge, this is the first published case of PAP in a patient with XHIGM.

Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome.

Science.gov (United States)

Festen, D A M; Wevers, M; Lindgren, A C; Böhm, B; Otten, B J; Wit, J M; Duivenvoorden, H J; Hokken-Koelega, A C S

2008-06-01

Prader-Willi syndrome (PWS) is a neurogenetic disorder characterized by muscular hypotonia, psychomotor delay, feeding difficulties and failure to thrive in infancy. GH treatment improves growth velocity and body composition. Research on the effects of GH on psychomotor development in infants with PWS is limited. To evaluate psychomotor development in PWS infants and toddlers during GH treatment compared to randomized controls. Forty-three PWS infants were evaluated at baseline. Twenty-nine of them were randomized into a GH group (n = 15) receiving 1 mg/m(2)/day GH or a non-GH-treated control group (n = 14). At baseline and after 12 months of follow-up, analysis with Bayley Scales of Infant Development II (BSID-II) was performed. Data were converted to percentage of expected development for age (%ed), and changes during follow-up were calculated. Infants in the GH group had a median age of 2.3 years [interquartile range (IQR) 1.7-3.0] and in the control group of 1.5 years (IQR 1.2-2.7) (P = 0.17). Both mental and motor development improved significantly during the first year of study in the GH group vs. the control group: median (IQR) change was +9.3% (-5.3 to 13.3) vs.-2.9% (-8.1 to 4.9) (P development and +11.2% (-4.9 to 22.5) vs.-18.5% (-27.9 to 1.8) (P development, respectively. One year of GH treatment significantly improved mental and motor development in PWS infants compared to randomized controls.

Sudden infant death syndrome and the genetics of inflammation

Directory of Open Access Journals (Sweden)

Linda eFerrante

2015-02-01

Full Text Available Several studies report signs of slight infection prior to death in cases of sudden infant death syndrome (SIDS. Based on this, a hypothesis of an altered immunological homeostasis has been postulated. The cytokines are important cellular mediators that are crucial for infant health by regulating cell activity during the inflammatory process. The pro-inflammatory cytokines favor inflammation; the most important of these are IL-1α, IL-1β, IL-6, IL-8, IL-12, IL-18, TNF-α and IFN-γ. These cytokines are controlled by the anti-inflammatory cytokines. This is accomplished by reducing the pro-inflammatory cytokine production, and thus counteracts their biological effect. The major anti-inflammatory cytokines are interleukin 1 receptor antagonist (IL-1ra, IL-4, IL-10, IL-11, and IL-13. The last decade there has been focus on genetic studies within genes that are important for the immune system, for SIDS with a special interest of the genes encoding the cytokines. This is because the cytokine genes are considered to be the genes most likely to explain the vulnerability to infection, and several studies have investigated these genes in an attempt to uncover associations between SIDS and different genetic variants. So far the genes encoding IL-1, IL-6, IL-10 and TNF-α are the most investigated within SIDS research, and several studies indicates associations between specific variants of these genes and SIDS. Taken together this may indicate that in at least a subset of SIDS predisposing genetic variants of the immune genes are involved. However, the immune system and the cytokine network are complex, and more studies are needed in order to better understand the interplay between different genetic variations and how this may contribute to an unfavorable immunological response.

[Dehydration and metabolic alkalosis: an unusual presentation of cystic fibrosis in an infant].

Science.gov (United States)

Aranzamendi, Roberto J; Breitman, Fanny; Asciutto, Carolina; Delgado, Norma; Castaños, Claudio

2008-10-01

Cystic fibrosis (CF) may present during neonatal period with classic clinic symptoms related to the disease. The severity of the disease is multifactorial, one of the factors depends on the level of activity of the CFTR protein, which is related with the mutation type that affects the patient. An infant is presented who developed recurrent episodes of vomiting, anorexia, weight loss, dehydration and electrolyte abnormalities, such as metabolic alkalosis, hyponatremia, hypokalemia and hypochloremia. CF was diagnosed after the third episode showing an unusual and not very publicized presentation of the disease. Mutations !F 508 and 2789+5G-A were found. CF should be considered in patients of any age, but particularly in infants, presenting with anorexia, vomiting, failure to thrive, that are associated with recurrent episodes of hyponatremic hypochloremic, dehydration with metabolic alkalosis unexplained by other causes, even in the absence of respiratory or gastrointestinal symptoms or failure to thrive.

Congenital cystic adenomatoid malformation: case presentation in a two months old infant

International Nuclear Information System (INIS)

Aqrabawi, H.E.; Shabatat, M.; Abbadi, B.M.

2015-01-01

Congenital cystic adenomatoid malformation (CCAM) is a rare abnormality of lung development; it is increasingly detected by the routine ultrasound scan during pregnancy. The severity of the abnormality is very variable. Herein, we present a case of congenital cystic adenomatoid malformation that presented in a two months old infant who had normal initial chest X rays. (author)

Atypical Presentation of Sjögren-Larsson Syndrome

Directory of Open Access Journals (Sweden)

D. Papathemeli

2017-01-01

Full Text Available Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95. This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal.

Burning mouth syndrome: Present perspective

OpenAIRE

Ramesh Parajuli

2015-01-01

Introduction: Burning mouth syndrome is characterized by chronic oral pain or burning sensation affecting the oral mucosa in the absence of obvious visible mucosal lesions. Patient presenting with the burning mouth sensation or pain is frequently encountered in clinical practice which poses a challenge to the treating clinician. Its exact etiology remains unknown which probably has multifactorial origin. It often affects middle or old age women and it may be accompanied by xerostomia and alte...

Malignant Hypertensive Retinopathy in an Infant with Mid-Aortic Occlusion

Directory of Open Access Journals (Sweden)

Lawrence J. Oh

2016-01-01

Full Text Available Purpose. Case report describing an eight-month-old infant presenting with intermittent esotropia and irritability who was found to have malignant (grade 4 hypertensive retinopathy and mid-aortic syndrome. Methods. Visual acuity was 6/140 in the right eye and not recordable in the left eye. Blood pressure was as high as 230/120 mmHg. Fundoscopy revealed bilateral optic disc swelling, macular stars, and serous retinal detachment in the left eye, findings that are consistent with malignant (grade 4 hypertensive retinopathy. CT abdominal angiogram revealed a severe mid-aortic syndrome with occlusion of the abdominal aorta at T12. Results. The patient was treated with medical management of his hypertension, improving the subretinal exudate. Binocular visual acuity improved to 6/9.5 over 9 months. There was a persistent left relative afferent pupillary defect and moderate left esotropia. Conclusion. This is the first reported case of malignant hypertensive retinopathy in an infant with concomitant mid-aortic occlusion. The authors emphasize the need for an ophthalmological and pediatric examination in a child presenting with intermittent squint and irritability. The esotropia was found to be a false localizing sign of raised intracranial pressure secondary to the severe mid-aortic syndrome.

EEC syndrome sans clefting: Variable clinical presentations in a family

Directory of Open Access Journals (Sweden)

Thakkar Sejal

2007-01-01

Full Text Available Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly, epiphora, hair changes and deafness with variable involvement in each family member.

Nelson′s syndrome presenting as bilateral oculomotor palsy

Directory of Open Access Journals (Sweden)

Abhay Gundgurthi

2013-01-01

Full Text Available Nelson′s syndrome refers to a clinical spectrum arising from progressive enlargement of pituitary adenoma and elevated adrenocorticotrophic hormone after total bilateral adrenalectomy for Cushing′s disease comprising of hyperpigmentation, visual field defects which can be life threatening. We report here a 50-year male presenting with rapid onset of Nelson′s syndrome with an unusual finding of bilateral oculomotor palsy mistakenly treated as ocular myasthenia.

Silent Aortic Dissection Presenting as Transient Locked-In Syndrome

Science.gov (United States)

Nadour, Wadih; Goldwasser, Brian; Biederman, Robert W.; Taffe, Kevin

2008-01-01

Acute aortic dissection is a medical emergency. Without prompt recognition and treatment, the mortality rate is high. An atypical presentation makes timely diagnosis difficult, especially if the patient is experiencing no characteristic pain. Many patients with aortic dissection are reported to have presented with various neurologic manifestations, but none with only a presentation of transient locked-in syndrome. Herein, we report a case of completely painless aortic dissection in a woman who presented with a transient episode of anarthria, quadriplegia, and preserved consciousness. On physical examination, she had a 40-point difference in blood pressure between her left and right arms, and a loud diastolic murmur. The diagnosis of acute aortic dissection was reached via a combination of radiography, computed tomography, echocardiography, and a high index of clinical suspicion. The patient underwent emergency surgery and ultimately experienced a successful outcome. To our knowledge, this is the 1st report of aortic dissection that presented solely as locked-in syndrome. We suggest that silent aortic dissection be added to the differential diagnosis for transient locked-in syndrome. PMID:18941610

Natal teeth in an infant with congenital hypothyroidism

Directory of Open Access Journals (Sweden)

C Venkatesh

2011-01-01

Full Text Available Teeth erupting at birth are referred to as natal teeth. It is a common and benign finding in the neonatal period. However, they may be associated with genetic syndromes like Ellis Van Creveld syndrome and Hallermann-Streiff syndrome. We report here a case of natal teeth in an infant with congenital hypothyroidism.

Webinar Presentation: Effects of Formula Supplementation on the Composition of the Infant Microbiome

Science.gov (United States)

This presentation, Effects of Formula Supplementation on the Composition of the Infant Microbiome, was given at the NIEHS/EPA Children's Centers 2015 Webinar Series: Food and Children's Health held on Dec. 9, 2015.

Prevention and reversal of intestinal failure-associated liver disease in premature infants with short bowel syndrome using intravenous fish oil in combination with omega-6/9 lipid emulsions.

Science.gov (United States)

Lilja, Helene Engstrand; Finkel, Yigael; Paulsson, Mattias; Lucas, Steven

2011-07-01

Although premature infants with short bowel syndrome are at the highest risk of developing intestinal failure-associated liver disease (IFALD), they have great capacity for intestinal growth and adaptation if IFALD can be prevented. Conventional soybean oil-based intravenous lipid emulsions have been associated with IFALD. This study presents data on 5 premature neonates with short bowel syndrome treated with a combination of parenteral fish oil- and olive/soybean-based lipid emulsion for periods ranging between 7 and 17 months. Despite an enteral tolerance of less than 50% in 4 of these patients during their first year of life, direct bilirubin levels normalized while on this combination of ClinOleic (Baxter, Maurepas, France)/Omegaven (Fresenius Kabi, Bad Homburg, Germany) at a 1:1 ratio. None of our patients developed irreversible IFALD even though all of them were premature, had undergone multiple major surgical procedures, and had experienced several episodes of sepsis. Thus far, we have not seen any adverse effects of this mixed lipid emulsion in these preterm infants. All 5 patients are growing and developing well and have normal liver function. Copyright © 2011 Elsevier Inc. All rights reserved.

MELAS syndrome presenting as an acute surgical abdomen.

Science.gov (United States)

Dindyal, S; Mistry, K; Angamuthu, N; Smith, G; Hilton, D; Arumugam, P; Mathew, J

2014-01-01

MELAS (mitochondrial cytopathy, encephalomyopathy, lactic acidosis and stroke-like episodes) is a syndrome in which signs and symptoms of gastrointestinal disease are uncommon if not rare. We describe the case of a young woman who presented as an acute surgical emergency, diagnosed as toxic megacolon necessitating an emergency total colectomy. MELAS syndrome was suspected postoperatively owing to persistent lactic acidosis and neurological symptoms. The diagnosis was later confirmed with histological and genetic studies. This case highlights the difficulties in diagnosing MELAS because of its unpredictable presentation and clinical course. We therefore recommend a high index of suspicion in cases of an acute surgical abdomen with additional neurological features or raised lactate.

Meige's Syndrome: Rare Neurological Disorder Presenting as Conversion Disorder.

Science.gov (United States)

Debadatta, Mohapatra; Mishra, Ajay K

2013-07-01

Meige's syndrome is a rare neurological syndrome characterized by oromandibular dystonia and blepharospasm. Its pathophysiology is not clearly determined. A 35-year-old female presented to psychiatric department with blepharospasm and oromandibular dystonia with clinical provisional diagnosis of psychiatric disorder (Conversion Disorder). After thorough physical examination including detailed neurological exam and psychiatric evaluation no formal medical or psychiatric diagnosis could be made. The other differential diagnoses of extra pyramidal symptom, tardive dyskinesia, conversion disorder, anxiety disorder were ruled out by formal diagnostic criteria. Consequently with suspicion of Meige's syndrome she was referred to the department of Neurology and the diagnosis was confirmed. Hence, Meige's syndrome could be misdiagnosed as a psychiatric disorder such as conversion disorder or anxiety disorder because clinical features of Meige's syndrome are highly variable and affected by psychological factors and also can be inhibited voluntarily to some extent.

Marfan's syndrome presenting with abdominal aortic aneurysm: A ...

African Journals Online (AJOL)

We present the case of a 16-year old student with Marfan's syndrome and abdominal aortic aneurysm who presented with a diagnostic conundrum. He presented with a three months history of progressive painful left upper abdominal mass and back pain. It became severe in the last two weeks before presentation and was ...

Sarcomeric gene mutations in sudden infant death syndrome (SIDS).

Science.gov (United States)

Brion, Maria; Allegue, Catarina; Santori, Montserrat; Gil, Rocio; Blanco-Verea, Alejandro; Haas, Cordula; Bartsch, Christine; Poster, Simone; Madea, Burkhard; Campuzano, Oscar; Brugada, Ramon; Carracedo, Angel

2012-06-10

In developed countries, sudden infant death syndrome (SIDS) represents the most prevalent cause of death in children between 1 month and 1 year of age. SIDS is a diagnosis of exclusion, a negative autopsy which requires the absence of structural organ disease. Although investigators have confirmed that a significant percentage of SIDS cases are actually channelopathies, no data have been made available as to whether other sudden cardiac death-associated diseases, such as hypertrophic cardiomyopathy (HCM), could be responsible for some cases of SIDS. The presence of a genetic mutation in the sarcomeric protein usually affects the force of contraction of the myocyte, whose weakness is compensated with progressive hypertrophy and disarray. However, it is unclear whether in the most incipient forms, that is, first years of life, the lack of these phenotypes still confers a risk of arrhythmogenesis. The main goal of the present study is to wonder whether genetic defects in the sarcomeric proteins, previously associated with HCM, could be responsible for SIDS. We have analysed 286 SIDS cases for the most common genes implicated in HCM in adults. A total of 680 mutations localised in 16 genes were analysed by semi-automated matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDITOF-MS) using the Sequenom MassARRAY(®) System. Ten subjects with completely normal hearts showed mutated alleles at nine of the genetic variants analysed, and one additional novel mutation was detected by conventional sequencing. Therefore, a genetic mutation associated with HCM may cause sudden cardiac death in the absence of an identifiable phenotype. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Serotonin Metabolites in the Cerebrospinal Fluid in the Sudden Infant Death Syndrome: In Search of a Biomarker of Risk

Science.gov (United States)

Rognum, Ingvar J.; Tran, Hoa; Haas, Elisabeth A.; Hyland, Keith; Paterson, David S.; Haynes, Robin L.; Broadbelt, Kevin G.; Harty, Brian J.; Mena, Othon; Krous, Henry F.; Kinney, Hannah C.

2015-01-01

Clinical biomarkers are urgently needed in the sudden infant death syndrome (SIDS) to identify living infants at risk because it because it occurs without occurs without clinical warning. Previously, we reported multiple serotonergic (5-HT) abnormalities in nuclei of the medulla oblongata that help mediate protective responses to homeostatic stressors. Here we test the hypothesis that 5-HT-related measures are abnormal in the cerebrospinal fluid (CSF) of SIDS infants compared to autopsy controls, as a first step towards their assessment as diagnostic biomarkers of medullary pathology. Levels of CSF 5-hydroxyindoleacetic acid (5-HIAA) and homovanillic acid (HVA), the degradative products of 5-HT and dopamine, respectively, were measured by high performance liquid chromatography in 57 SIDS and 29 non-SIDS autopsy cases. Tryptophan (Trp) and tyrosine (Tyr), the substrates of 5-HT and dopamine, respectively, were also measured. There were no significant differences in 5-HIAA, Trp, HVA, or Tyr levels between the SIDS and non-SIDS groups. These data preclude use of 5-HIAA, HVA, Trp or Tyr measurements as CSF biomarkers of 5-HT medullary pathology in infants at risk. They provide, however, important information about monoaminergic measurements in human CSF at autopsy and their developmental profile in infancy that is applicable to multiple pediatric disorders beyond SIDS. PMID:24423636

Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.

Science.gov (United States)

Ganie, M A; Laway, B A; Nisar, S; Wani, M M; Khurana, M L; Ahmad, F; Ahmed, S; Gupta, P; Ali, I; Shabir, I; Shadan, A; Ahmed, A; Tufail, S

2011-11-01

Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India. Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ±7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied. The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

Infant temperament and parental stress in 3-month-old infants after surgery for complex congenital heart disease.

Science.gov (United States)

Torowicz, Deborah; Irving, Sharon Y; Hanlon, Alexandra L; Sumpter, Danica F; Medoff-Cooper, Barbara

2010-04-01

This study aimed to identify and compare differences in temperament and maternal stress between infants with complex congenital heart disease and healthy controls at 3 months of age. Study sample was drawn from an existing longitudinal study examining growth in infants with congenital heart disease when compared with healthy controls. Infant temperament and parental stress were measured in 129 mother-infant dyads. Inclusion criteria for infants with congenital heart disease were > or = 36-week postmenstrual age, > or = 2500 g at birth, surgery in first 6 weeks of life, and no major congenital anomalies or genetic syndromes. The Early Infancy Temperament Questionnaire and Parent Stress Index were the assessment tools used. Infants with single ventricular (SV) physiology were more negative in mood (F = 7.14, p parenting an irritable infant with SV physiology put these mothers at risk for high levels of stress. Results suggest the need for predischarge anticipatory guidance for parents to better understand and respond to the behavioral style of their infants, in particular, infants with SV physiology.

Pancoast syndrome: A rare presentation of non-Hodgkin′s lymphoma

Directory of Open Access Journals (Sweden)

Anirban Sarkar

2013-01-01

Full Text Available Pancoast syndrome is a common presentation of bronchogenic carcinoma, but other malignancies are rarely cited as its cause. Pancoast syndrome due to non-Hodgkin′s lymphoma is rarely described in the literature. Here, we report a case of Pancoast syndrome due to non-Hodgkin′s lymphoma to increase the awareness of the clinicians regarding essentiality of tissue diagnosis of Pancoast tumor before starting the treatment.

A case of late-onset allgrove syndrome presenting with predominant autonomic dysfunction

Directory of Open Access Journals (Sweden)

Debmalya Sanyal

2013-01-01

Full Text Available Allgrove Syndrome or triple A syndrome is a rare familial multisystem disorder characterized by achalasia, alacrima and adrenal insufficiency. The objective was to describe a case of 4A syndrome where autonomic dysfunction was the presenting feature. A 22-year-old male presented with erectile dysfunction and loss of spontaneous morning erections for six months. He was having nocturnal diarrhea and recurrent postural dizziness for three months. He was found to have hyperpigmentation at pressure points, postural hypotension and other features of autonomic dysfunction. Laboratory investigations and imaging studies revealed hypoadrenalism, achalasia, alacrima and peripheral neuropathy. Autonomic neuropathy-related features persisted even after correction of hypoadrenalism. Based on clinical features and investigation he was diagnosed as a case of 4A syndrome presenting with autonomic dysfunction. Allgrove or 4A syndrome should be considered as a rare differential diagnosis of someone presenting with features of autonomic neuropathy.

Syndromic Hirschsprung's disease and associated congenital heart disease: a systematic review.

Science.gov (United States)

Duess, Johannes W; Puri, Prem

2015-08-01

Hirschsprung's disease (HD) occurs as an isolated phenotype in 70% of infants and is associated with additional congenital anomalies or syndromes in approximately 30% of patients. The cardiac development depends on neural crest cell proliferation and is closely related to the formation of the enteric nervous system. HD associated with congenital heart disease (CHD) has been reported in 5-8% of cases, with septation defects being the most frequently recorded abnormalities. However, the prevalence of HD associated with CHD in infants with syndromic disorders is not well documented. This systematic review was designed to determine the prevalence of CHD in syndromic HD. A systematic review of the literature using the keywords "Hirschsprung's disease", "aganglionosis", "congenital megacolon", "congenital heart disease" and "congenital heart defect" was performed. Resulting publications were reviewed for epidemiology and morbidity. Reference lists were screened for additional relevant studies. A total of fifty-two publications from 1963 to 2014 reported data on infants with HD associated with CHD. The overall reported prevalence of HD associated with CHD in infants without chromosomal disorders was 3%. In infants with syndromic disorders, the overall prevalence of HD associated with CHD ranged from 20 to 80 % (overall prevalence 51%). Septation defects were recorded in 57% (atrial septal defects in 29%, ventricular septal defects in 32%), a patent ductus arteriosus in 39%, vascular abnormalities in 16%, valvular heart defects in 4% and Tetralogy of Fallot in 7%. The prevalence of HD associated with CHD is much higher in infants with chromosomal disorders compared to infants without associated syndromes. A routine echocardiogram should be performed in all infants with syndromic HD to exclude cardiac abnormalities.

Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Varadi-Papp): report of a transitional type

International Nuclear Information System (INIS)

Hayes, Laura L.; Palasis, Susan; Simoneaux, Stephen F.; Niyazov, Dmitriy M.

2008-01-01

The oral-facial-digital syndromes (OFDS) comprise a group of disorders involving malformations of the mouth, face, and digits. There are 13 subtypes of the OFDS, and much overlap exists among OFDS patients. Distinct syndromes such as Joubert and Pallister-Hall display many of the same features. This report describes an infant with abnormalities including a hypoplastic/absent cerebellar vermis and forked third metacarpals, consistent with a diagnosis of OFDS type VI (Varadi-Papp). The girl's abnormalities also included malformations of the larynx and trachea, findings never before described in type VI but described in other OFDS subtypes and similar syndromes. Our patient represents a transitional OFDS type, further supporting evidence of a common molecular pathway among these disorders. This report highlights the importance of the radiologist's role in diagnosis. (orig.)

Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

Science.gov (United States)

Nkrumah, F K

1971-03-01

A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.

Syndromic (phenotypic diarrhea in early infancy

Directory of Open Access Journals (Sweden)

Bodemer Christine

2008-02-01

Full Text Available Abstract Syndromic diarrhea (SD, also known as phenotypic diarrhea (PD or tricho-hepato-enteric syndrome (THE, is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN. To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000–400,000 live births in Western Europe. Ethnic origin does not appear to be associated with SD. Infants are born small for gestational age and present with facial dysmorphism including prominent forehead and cheeks, broad nasal root and hypertelorism. Hairs are woolly, easily removed and poorly pigmented. Severe and persistent diarrhea starts within the first 6 months of life (≤ 1 month in most cases and is accompanied by severe malabsorption leading to early and relentless protein energy malnutrition with failure to thrive. Liver disease affects about half of patients with extensive fibrosis or cirrhosis. There is currently no specific biochemical profile, though a functional T-cell immune deficiency with defective antibody production was reported. Microscopic analysis of the hair show twisted hair (pili torti, aniso- and poilkilotrichosis, and trichorrhexis nodosa. Histopathological analysis of small intestine biopsy shows non-specific villous atrophy with low or no mononuclear cell infiltration of the lamina propria, and no specific histological abnormalities involving the epithelium. The etiology remains unknown. The frequent association of the disorder with parental consanguinity and/or affected siblings suggests a genetic origin with an autosomal recessive mode of transmission. Early management consists of total PN. Some infants have a rather milder phenotype with partial PN dependency or require only enteral feeding. Prognosis of this syndrome is poor, but most patients now survive, and about half of the patients may be weaned from PN at adolescence, but experience failure to thrive and final short stature. Disease name

Antiphospholipid Antibody Syndrome Presenting with Hemichorea

Directory of Open Access Journals (Sweden)

Yezenash Ayalew

2012-01-01

Full Text Available A 25-year-old Bangladeshi lady presented to neurology with a three-month history of involuntary movements of her right arm, associated with loss of power. There was progression to the right leg, and she subsequently developed episodes of slurred speech and blurred vision. At the time of presentation, she was 12 weeks pregnant and the symptoms were reported to have started at conception. Past medical history was unremarkable apart from one first trimester miscarriage and there was no significant family history suggestive of a hereditary neurological condition. MRI of the head revealed no abnormalities but serology showed positive antinuclear antibodies (ANAs at a titre of 1/400. Further investigations revealed strongly positive anticardiolipin antibodies (>120 and positive lupus anticoagulant antibodies. The patient had a second miscarriage at 19 weeks gestation strengthening the possibility that the chorea was related to antiphospholipid antibody syndrome and she was started on a reducing dose of Prednisolone 40 mg daily and aspirin 300 mg daily. Six months later, she had complete resolution of neurological symptoms. There are several reports of chorea as a feature of antiphospholipid syndrome, but no clear consensus on underlying pathophysiology.

Infantile Hemophagocytic Lymphohistiocytosis in a Case of Chediak-Higashi Syndrome Caused by a Mutation in the LYST/CHS1 Gene Presenting With Delayed Umbilical Cord Detachment and Diarrhea

DEFF Research Database (Denmark)

Nielsen, Christian; Agergaard, Charlotte N; Jakobsen, Marianne A

2015-01-01

A 2-month-old female infant, born to consanguineous parents, presented with infections in skin and upper respiratory tract. She was notable for delayed umbilical cord detachment, partial albinism, and neurological irritability. Giant granules were present in white blood cells. The intracellular...... in this severe phenotype of Chediak-Higashi syndrome was probably induced by rotaviral infection. Interestingly, the intracellular perforin content in CD8 T cells seems to correlate to the immune activation state of the patient. Late separation of the umbilical cord in concordance with clinical symptoms should...

Cardiac juvenile xanthogranuloma in an infant presenting with pericardial effusion.

Science.gov (United States)

Kobayashi, Daisuke; Delius, Ralph E; Debelenko, Larisa V; Aggarwal, Sanjeev

2013-01-01

Juvenile xanthogranuloma is a rare histiocytic disorder of childhood mainly affecting skin and rarely deep soft tissues and viscera. We report a 2-month-old infant who presented with respiratory distress secondary to a large pericardial effusion associated with an epicardial mass. Excisional biopsy was performed and the mass was diagnosed as juvenile xanthogranuloma. The child is well without evidence of disease 8 months following the excision. The corresponding literature on juvenile xanthogranuloma with cardiac manifestations is reviewed. © 2012 Wiley Periodicals, Inc.

Intrapartum diagnostic of Roberts syndrome - case presentation.

Science.gov (United States)

Socolov, Răzvan Vladimir; Andreescu, Nicoleta Ioana; Haliciu, Ana Maria; Gorduza, Eusebiu Vlad; Dumitrache, Florentin; Balan, Raluca Anca; Puiu, Maria; Dobrescu, Mihaela Amelia; Socolov, Demetra Gabriela

2015-01-01

Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission.

i-gel: a new supraglottic device for effective resuscitation of a very low birthweight infant with Cornelia de Lange syndrome

Science.gov (United States)

Galderisi, Alfonso; De Bernardo, Giuseppe; Lorenzon, Eleonora; Trevisanuto, Daniele

2015-01-01

Laryngeal Mask Airway (LMA) has been indicated as an effective device for airway management when face-mask ventilation and intubation have both failed in infants weighing >2000 g or delivered ≥34 weeks of gestation. All previous studies used a classic LMA. The current report describes the first case of a very low birthweight infant (1470 g, <3rd centile; 36+3gestational weeks) with micrognathia and palate cleft with Cornelia De Lange syndrome, resuscitated at birth with a new supraglottic airway device, i-gel size-1, positioned by a trainee paediatrician at first attempt. The procedure allowed reaching prompt effective ventilation and oxygenation of the patient, who was stabilised and intubated through i-gel. PMID:25809435

Antenatal smoking and substance-misuse, infant and newborn response to hypoxia

OpenAIRE

Ali, Kamal; Rosser, Thomas; Bhat, Ravindra; Wolff, Kim; Hannam, Simon; Rafferty, Gerrard F.; Greenough, Anne

2016-01-01

Objectives: To determine at the peak age for sudden infant death syndrome (SIDS) the ventilatory response to hypoxia of infants whose mothers substance misused in pregnancy (SM infants), or smoked during pregnancy (S mothers) and controls whose mothers neither substance misused or smoked. In addition, we compared the ventilatory response to hypoxia during the neonatal period and peak age of SIDS. Working hypothesis: Infants of S or SM mothers compared to control infants would have a poorer ve...

The Epidemic of Neonatal Abstinence Syndrome, Historical References of Its’ Origins, Assessment, and Management

Directory of Open Access Journals (Sweden)

Enrique Gomez-Pomar

2018-02-01

Full Text Available Neonatal abstinence syndrome (NAS refers to a constellation of signs that are present in some newborn infants resulting from the abrupt cessation of passive transfer of maternal opioids used during pregnancy. The classic NAS refers to infants born to mothers who used opioids during pregnancy, but the term has broadened to include infants whose mothers have used or abused other psychoactive substances during pregnancy that contribute to the expression of the syndrome. Pregnant women who use opioids do so illicitly, and/or as medically prescribed for pain relief, and/or as medication assisted treatment for opioid dependence. The first case of NAS in infants and the subsequent treatment (or lack thereof was reported in 1875 and was called Congenital Morphinism. By 2012, the incidence of NAS increased to more than 30 per 1,000 hospital live births, along with an increase in the number of infants being treated pharmacologically for NAS, resulting in an increase in the length of stay and healthcare expenses. We present historical references on NAS, the various factors and events that led to its increasing prevalence and today’s current epidemic. We also review the current tools to assess infants with NAS and treatment options in its management.

Neonatal Cushing Syndrome: A Rare but Potentially Devastating Disease.

Science.gov (United States)

Tatsi, Christina; Stratakis, Constantine A

2018-03-01

Neonatal Cushing syndrome (CS) is most commonly caused by exogenous administration of glucocorticoids and rarely by endogenous hypercortisolemia. CS owing to adrenal lesions is the most common cause of endogenous CS in neonates and infants, and adrenocortical tumors (ACTs) represent most cases. Many ACTs develop in the context of a TP53 gene mutation, which causes Li-Fraumeni syndrome. More rarely, neonatal CS presents as part of other syndromes such as McCune-Albright syndrome or Beckwith-Wiedemann syndrome. Management usually includes resection of the primary tumor with or without additional medical treatment, but manifestations may persist after resolution of hypercortisolemia. Published by Elsevier Inc.

Serological markers of hepatitis B infection in infants presenting for ...

African Journals Online (AJOL)

owner

2012-12-29

Dec 29, 2012 ... birth. Key words: Serological markers, hepatitis B. first infant immuniza- tion. Introduction. Universal infant immunization has been recommended since 1992 by the World ... to the inhabitants of Benin City, the capital of Edo state,. Nigeria. .... Of the 13(52%) that were done at home 5(38.5%) were carried out ...

Similar calcium status is present in infants fed formula with and without prebiotics

Science.gov (United States)

Prebiotic oligosaccharides can increase calcium absorption in adolescents and adults. Whether they affect calcium absorption in infants has not been assessed. Few data are available to compare the calcium status of infants fed modern infant formulas to that of breast fed infants. To evaluate calcium...

Late preterm infants – impact of perinatal factors on neonatal results. A clinical study

Directory of Open Access Journals (Sweden)

Grzegorz Jakiel

2015-09-01

Full Text Available Introduction. Infants born between the 34[sup]th[/sup] – 36[sup]th[/sup] week of pregnancy account for 75% of all preterm infants. Their seemingly slight immaturity is related to serious health problems. Objective. The aim of the study was to analyse perinatal factors that influence the occurrence in infants of such problems as respiratory failure, metabolic problems and early onset sepsis (EOS. Materials and method. The material for the study included all mothers and their late preterm infants: 34+0 – 36+6 born in our hospital (a tertiary referral academic centre in 2010 and 2011. The course of pregnancy and delivery, the type of delivery, applied preventive measures and treatment, as well as demographic data and the clinical state of infants were all analysed. Data from individual documentation of each mother and infant were collected by 5 designated people and data reliability was independently monitored by a random control of the documentation conducted by the supervising person. Results. A statistically significant relationship between the occurrence of respiratory distress syndrome and infant immaturity, bad state after birth and sepsis in infants were confirmed. Sepsis was more common in the case of vaginal delivery, and coexisted with respiratory distress syndrome. The mother’s diseases during pregnancy, a perinatal preventive antibiotic therapy, and possible delivery complications did not influence the infection. Perinatal asphyxia in an infant positively correlated with a Caesarean section and respiratory distress syndrome after birth. Conclusions. It is necessary to thoroughly establish the type of delivery of a late preterm infant in order to prevent an infection in the newborn child. The improvement of diagnosis of intrauterine hypoxia may reduce the number of Caesarean sections. The decision about late preterm delivery should be based on indices of the mother’s state of health. Premature delivery is related to the

Neurally adjusted ventilatory assist (NAVA) in preterm newborn infants with respiratory distress syndrome-a randomized controlled trial.

Science.gov (United States)

Kallio, Merja; Koskela, Ulla; Peltoniemi, Outi; Kontiokari, Tero; Pokka, Tytti; Suo-Palosaari, Maria; Saarela, Timo

2016-09-01

Neurally adjusted ventilatory assist (NAVA) improves patient-ventilator synchrony during invasive ventilation and leads to lower peak inspiratory pressures (PIP) and oxygen requirements. The aim of this trial was to compare NAVA with current standard ventilation in preterm infants in terms of the duration of invasive ventilation. Sixty infants born between 28 + 0 and 36 + 6 weeks of gestation and requiring invasive ventilation due to neonatal respiratory distress syndrome (RDS) were randomized to conventional ventilation or NAVA. The median durations of invasive ventilation were 34.7 h (quartiles 22.8-67.9 h) and 25.8 h (15.6-52.1 h) in the NAVA and control groups, respectively (P = 0.21). Lower PIPs were achieved with NAVA (P = 0.02), and the rapid reduction in PIP after changing the ventilation mode to NAVA made following the predetermined extubation criteria challenging. The other ventilatory and vital parameters did not differ between the groups. Frequent apneas and persistent pulmonary hypertension were conditions that limited the use of NAVA in 17 % of the patients randomized to the NAVA group. Similar cumulative doses of opiates were used in both groups (P = 0.71). NAVA was a safe and feasible ventilation mode for the majority of preterm infants suffering from RDS, but the traditional extubation criteria were not clinically applicable during NAVA. • NAVA improves patient-ventilator synchrony during invasive ventilation. • Lower airway pressures and oxygen requirements are achieved with NAVA during invasive ventilation in preterm infants by comparison with conventional ventilation. What is new: • Infants suffering from PPHN did not tolerate NAVA in the acute phase of their illness. • The traditional extubation criteria relying on inspiratory pressures and spontaneous breathing efforts were not clinically applicable during NAVA.

Guillain-Barre Syndrome Presenting as Acute Abdomen

Directory of Open Access Journals (Sweden)

Faruk incecik

2015-09-01

Full Text Available Guillain-Barr and eacute; syndrome (GBS is the most common cause of acute flaccid paralysis in childhood. Symmetric weakness, headache, respiratory symptom, neuropathic pain, muscle pain, paresthesia, and facial palsy were the most common clinical presentations. We report 13-year-old boy with GBS who presented with acute abdominal pain. This is the first report, to our knowledge, first presented of acute abdomen of a pediatric patient with GBS. [Cukurova Med J 2015; 40(3.000: 601-603

Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

Directory of Open Access Journals (Sweden)

Ozyurt Abdullah

2015-06-01

Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report.

LENUS (Irish Health Repository)

Chan, Jeffrey C Y

2008-01-01

Occupational overuse syndrome (OOS) can present as Guyon\\'s canal syndrome in computer keyboard users. We report a case of Guyon\\'s canal syndrome caused by a ganglion in a computer user that was misdiagnosed as OOS.

Left Ventricular Dysfunction and Dilated Cardiomyopathy in Infants and Children with Wolff-Parkinson-White Syndrome in the Absence of Tachyarrhythmias

Science.gov (United States)

2012-01-01

Left ventricular (LV) dysfunction and dilated cardiomyopathy (DCM) are rarely attributable to sustained or incessant tachyarrhythmias in infants and children with Wolff-Parkinson-White (WPW) syndrome. However, several recent reports suggested that significant LV dysfunction may develop in WPW syndrome in the absence of tachyarrhythmias. It is assumed that an asynchronous ventricular activation over the accessory pathway, especially right-sided, induces septal wall motion abnormalities, ventricular remodeling and ventricular dysfunction. The prognosis of DCM associated with asymptomatic WPW is excellent. Loss of ventricular pre-excitation results in mechanical resynchronization and reverse remodeling where LV function recovers completely. The reversible nature of LV dysfunction after loss of ventricular pre-excitation supports the causal relationship between LV dysfunction and ventricular pre-excitation. This review summarizes recent clinical and electrophysiological evidence for development of LV dysfunction or DCM in asymptomatic WPW syndrome, and discusses the underlying pathophysiological mechanism. PMID:23323117

Current state of the problem sudden infant death at home

OpenAIRE

Berlay Margarita Vasilievna; Kopylov Anatoliy Vasilievich; Karpov Sergey Mikhailovich

2017-01-01

The “Sudden Infant Death Syndrome” stands for unexpected nonviolent death of apparently healthy chest age child when there is no history or pathomorphological features which can be adequate explanations for death reasons. In Russian Federation, the death rate from this syndrome in the range of 0,06 to 2,8 per 1000 live births. In Stavropol region, average figures are equal to 0,36 per 1000 live births in the period of 2005–2014. Rates of incidence sudden infant death syndrome are similar to t...

Evolution of a child with Treacher Collins syndrome undergoing physiotherapeutic treatment

Directory of Open Access Journals (Sweden)

Bárbara Gabriela da S. Rodrigues

Full Text Available AbstractIntroduction Treacher Collins syndrome, or mandibulofacial dysostosis, is a hereditary disorder and is manifested by craniofacial malformations. The incidence is close to one case per 40,000 live births, without relation to gender or race. The infant carrier may present neurological development. This rare syndrome requires documentation of its main clinical and kinetic-functional consequences.Objectives The purpose of this study was to describe the clinical and kinetic-functional findings for a child who has Treacher Collins syndrome and receives treatment in the Physiotherapy Department at the Pestalozzi Association in Goiania, and to present the evolution of motor function and psychomotor development during rehabilitation.Materials and methods The information was obtained through interviews with the mother, and evaluation of the child at nine and eleven months old, using the infant neurological assessment sheet, Inventory Operational Portage (IPO and Gross Motor Function Measure (GMFM.Results The GMFM showed that the child had a higher trend in the items for lying and rolling, sitting, crawling and kneeling and minor changes in the items for standing, walking, running and jumping. In the IPO, the child progressed in all of the assessed areas: infant stimulation, motor development, socialization, self-care, cognition and language.Conclusion The child showed progress in psychomotor development in accordance with that expected for their age and initial assessment. It is suggested that children with this syndrome be treated by multidisciplinary teams in the first years of life, preventing delays and deviations in development.

Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

Directory of Open Access Journals (Sweden)

Guillaume Jedraszak

2015-01-01

Full Text Available Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

Isolated acute non-cystic white matter injury in term infants presenting with neonatal encephalopathy.

LENUS (Irish Health Repository)

Barrett, Michael Joseph

2013-03-01

We discuss possible aetiological factors, MRI evolution of injury and neuro-developmental outcomes of neonatal encephalopathy (NE). Thirty-six consecutive infants diagnosed with NE were included. In this cohort, four infants (11%) were identified with injury predominantly in the deep white matter on MRI who were significantly of younger gestation, lower birthweight with higher Apgars at one and five minutes compared to controls. Placental high grade villitis of unknown aetiology (VUA) was identified in all four of these infants. Our hypothesis states VUA may induce white matter injury by causing a local inflammatory response and\\/or oxidative stress during the perinatal period. We underline the importance of continued close and systematic evaluation of all cases of NE, including examination of the placenta, in order to come to a better understanding of the clinical presentation, the patterns of brain injury and the underlying pathophysiological processes.

Presentation of Depression in Autism and Asperger Syndrome: A Review

Science.gov (United States)

Stewart, Mary E.; Barnard, Louise; Pearson, Joanne; Hasan, Reem; O'Brien, Gregory

2006-01-01

Depression is common in autism and Asperger syndrome, but despite this, there has been little research into this issue. This review considers the current literature on the prevalence, presentation, treatment and assessment of depression in autism and Asperger syndrome. There are diagnostic difficulties when considering depression in autism and…

Case series of infants presenting with end stage retinopathy of prematurity to two tertiary eye care facilities in Mexico: underlying reasons for late presentation.

Science.gov (United States)

Zepeda-Romero, Luz C; Meza-Anguiano, Alonso; Barrera-de León, Juan C; Angulo-Castellanos, Eusebio; Ramirez-Ortiz, Marco A; Gutiérrez-Padilla, José A; Gilbert, Clare E

2015-06-01

To describe the characteristics of infants with bilateral Stage 4b or 5 ROP (i.e. with subtotal or total retinal detachment) who presented to eye departments in two major cities in Mexico, to identify reasons why they may have become blind in order to recommend how programs could be improved. A large case-series of infants with Stage 4b or 5 ROP in both eyes confirmed by ultrasound who attended the ROP Clinic, Hospital Civil de Guadalajara from September 2010 to November 2012, and the Department of Ophthalmology, Hospital Infantil de Mexico Federico Gomez from December 2011 to December 2012 were identified from the diagnostic databases of each hospital. Mothers of infants in Guadalajara had a telephone interview. 89/94 eligible infants were included in the study, 48 in Guadalajara and 41 in Mexico City. Cases came from 22 of the 32 states in Mexico. Half of the infants attending Guadalajara 24/48 (50 %) had been cared for in NICUs without ROP screening programs and were not examined. Among the 24 infants cared for in NICUs with ROP programs, 7/24 (29.1 %) mothers reported that their infant had not been examined while in the NICU, and a further 9/24 (37.5 %) were either not referred for screening after discharge or they did not attend. Two infants had failed laser treatment. Strategies and resources to prevent end stage ROP have not been firmly established in Mexico. There is an urgent need to expand the coverage and quality of ROP programs, to ensure that existing screening guidelines are better adhered to, and to improve communication with parents.

Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.

Science.gov (United States)

van der Linden, Vanessa; Pessoa, André; Dobyns, William; Barkovich, A James; Júnior, Hélio van der Linden; Filho, Epitacio Leite Rolim; Ribeiro, Erlane Marques; Leal, Mariana de Carvalho; Coimbra, Pablo Picasso de Araújo; Aragão, Maria de Fátima Viana Vasco; Verçosa, Islane; Ventura, Camila; Ramos, Regina Coeli; Cruz, Danielle Di Cavalcanti Sousa; Cordeiro, Marli Tenório; Mota, Vivian Maria Ribeiro; Dott, Mary; Hillard, Christina; Moore, Cynthia A

2016-12-02

Congenital Zika virus infection can cause microcephaly and severe brain abnormalities (1). Congenital Zika syndrome comprises a spectrum of clinical features (2); however, as is the case with most newly recognized teratogens, the earliest documented clinical presentation is expected to be the most severe. Initial descriptions of the effects of in utero Zika virus infection centered prominently on the finding of congenital microcephaly (3). To assess the possibility of clinical presentations that do not include congenital microcephaly, a retrospective assessment of 13 infants from the Brazilian states of Pernambuco and Ceará with normal head size at birth and laboratory evidence of congenital Zika virus infection was conducted. All infants had brain abnormalities on neuroimaging consistent with congenital Zika syndrome, including decreased brain volume, ventriculomegaly, subcortical calcifications, and cortical malformations. The earliest evaluation occurred on the second day of life. Among all infants, head growth was documented to have decelerated as early as 5 months of age, and 11 infants had microcephaly. These findings provide evidence that among infants with prenatal exposure to Zika virus, the absence of microcephaly at birth does not exclude congenital Zika virus infection or the presence of Zika-related brain and other abnormalities. These findings support the recommendation for comprehensive medical and developmental follow-up of infants exposed to Zika virus prenatally. Early neuroimaging might identify brain abnormalities related to congenital Zika infection even among infants with a normal head circumference (4).

Outcome of infants presenting with echogenic bowel in the second trimester of pregnancy

NARCIS (Netherlands)

Buiter, Hannah D.; Scholtenhuis, Marloes A. G. Holswilder-Olde; Bouman, Katelijne; van Baren, Robertine; Bilardo, Caterina M.; Bos, Arend F.

Objective Fetal echogenic bowel (FEB) is a soft marker found on second trimester sonography. Our main aim was to determine the outcome of infants who presented with FEB and secondarily to identify additional sonographic findings that might have clinical relevance for the prognosis. Design We

Primary Antiphospholipid Syndrome: Unusual Presentation in a ...

African Journals Online (AJOL)

A 72 year old man with a history of TIAs and stroke with unexplained moderately raised ESR presented a year later with rapid deterioration of vision in his left eye because of central retinal vein occlusion. Primary antiphospholipid syndrome is found in patients with history of arterial or venous thromboembolism, ...

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

Science.gov (United States)

Raas-Rothschild, Annick; Wanders, Ronald J A; Mooijer, Petra A W; Gootjes, Jeannette; Waterham, Hans R; Gutman, Alisa; Suzuki, Yasuyuki; Shimozawa, Nobuyuki; Kondo, Naomi; Eshel, Gideon; Espeel, Marc; Roels, Frank; Korman, Stanley H

2002-04-01

Sensorineural deafness and retinitis pigmentosa (RP) are the hallmarks of Usher syndrome (USH) but are also prominent features in peroxisomal biogenesis defects (PBDs); both are autosomal recessively inherited. The firstborn son of unrelated parents, who both had sensorineural deafness and RP diagnosed as USH, presented with sensorineural deafness, RP, dysmorphism, developmental delay, hepatomegaly, and hypsarrhythmia and died at age 17 mo. The infant was shown to have a PBD, on the basis of elevated plasma levels of very-long- and branched-chain fatty acids (VLCFAs and BCFAs), deficiency of multiple peroxisomal functions in fibroblasts, and complete absence of peroxisomes in fibroblasts and liver. Surprisingly, both parents had elevated plasma levels of VLCFAs and BCFAs. Fibroblast studies confirmed that both parents had a PBD. The parents' milder phenotypes correlated with relatively mild peroxisomal biochemical dysfunction and with catalase immunofluorescence microscopy demonstrating mosaicism and temperature sensitivity in fibroblasts. The infant and both of his parents belonged to complementation group C. PEX6 gene sequencing revealed mutations on both alleles, in the infant and in his parents. This unique family is the first report of a PBD with which the parents are themselves affected individuals rather than asymptomatic carriers. Because of considerable overlap between USH and milder PBD phenotypes, individuals suspected to have USH should be screened for peroxisomal dysfunction.

Primary Sjogren's syndrome presenting as Acute Flaccid Quadriplegia:

OpenAIRE

Singhvi, J.P.; Ganguli, Anirban; Kaur, Bramhjyot

2010-01-01

Primary Sjogren's Syndrome presenting as quadriplegia and respiratory involvement due to renal tubular acidosis causing hypokalemia is rare and the significance of managing such case with potassium citrate instead of potassium chloride is highlighted.

Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia.

Science.gov (United States)

Thakur, Shruti; Jhobta, Anupam; Sharma, Brij; Chauhan, Arun; Thakur, Charu S

2017-07-01

Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging features revealed complex diaphragmatic hiatus hernia with organoaxial gastric volvulus. This is a unique case report about an adult patient with Marfan syndrome who presented with symptomatic paraesophageal hernia and organoaxial gastric volvulus. Copyright © 2014. Published by Elsevier Taiwan.

Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia

Directory of Open Access Journals (Sweden)

Shruti Thakur

2017-07-01

Full Text Available Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging features revealed complex diaphragmatic hiatus hernia with organoaxial gastric volvulus. This is a unique case report about an adult patient with Marfan syndrome who presented with symptomatic paraesophageal hernia and organoaxial gastric volvulus.

Surfactant therapy in late preterm infants

Directory of Open Access Journals (Sweden)

Murat Yurdakök

2013-06-01

Full Text Available Late preterm (LPT neonates are at a high risk for respiratory distress soon after birth due to respiratory distress syndrome (RDS, transient tachypnea of the newborn, persistent pulmonary hypertension, and pneumonia along with an increased need for surfactant replacement therapy, continuous positive airway pressure, and ventilator support when compared with the term neonates. In the past, studies on outcomes of infants with respiratory distress have primarily focused on extremely premature infants, leading to a gap in knowledge and understanding of the developmental biology and mechanism of pulmonary diseases in LPT neonates. Surfactant deficiency is the most frequent etiology of RDS in very preterm and moderately preterm infants, while cesarean section and lung infection play major roles in RDS development in LPT infants. The clinical presentation and the response to surfactant therapy in LPT infants may be different than that seen in very preterm infants. Incidence of pneumonia and occurrence of pneumothorax are significantly higher in LPT and term infants. High rates of pneumonia in these infants may result in direct injury to the type II alveolar cells of the lung with decreasing synthesis, release, and processing of surfactant. Increased permeability of the alveolar capillary membrane to both fluid and solutes is known to result in entry of plasma proteins into the alveolar hypophase, further inhibiting the surface properties of surfactant. However, the oxygenation index value do not change dramatically after ventilation or surfactant administration in LPT infants with RDS compared to very preterm infants. These finding may indicate a different pathogenesis of RDS in late preterm and term infants. In conclusion, surfactant therapy may be of significant benefit in LPT infants with serious respiratory failure secondary to a number of insults. However, optimal timing and dose of administration are not so clear in this group. Additional

Rett syndrome: EEG presentation.

Science.gov (United States)

Robertson, R; Langill, L; Wong, P K; Ho, H H

1988-11-01

Rett syndrome, a degenerative neurological disorder of girls, has a classical presentation and typical EEG findings. The electroencephalograms (EEGs) of 7 girls whose records have been followed from the onset of symptoms to the age of 5 or more are presented. These findings are tabulated with the Clinical Staging System of Hagberg and Witt-Engerström (1986). The records show a progressive deterioration in background rhythms in waking and sleep. The abnormalities of the background activity may only become evident at 4-5 years of age or during stage 2--the Rapid Destructive Stage. The marked contrast between waking and sleep background may not occur until stage 3--the Pseudostationary Stage. In essence EEG changes appear to lag behind clinical symptomatology by 1-3 years. An unexpected, but frequent, abnormality was central spikes seen in 5 of 7 girls. They appeared to be age related and could be evoked by tactile stimulation in 2 patients. We hypothesize that the prominent 'hand washing' mannerism may be self-stimulating and related to the appearance of central spike discharges.

Recurrent urinary tract infections in an infant with antenatal Bartter syndrome.

Science.gov (United States)

Tasic, Velibor; Pota, Liljana; Gucev, Zoran

2011-02-01

antenatal variant of Bartter syndrome is characterized by a history of polyhydramnios, premature birth, metabolic alkalosis, hypokalemia, polyuria and renal salt wasting. In this report we present a premature female baby with antenatal Barter syndrome who had three episodes of urinary tract infection (UTI), without evidence for congenital anomaly of the kidneys or urinary tract. antenatal Bartter syndrome was diagnosed according to the standard criteria. Ultrasound scan and voiding cystourethrography were performed to exclude congenital anomaly of the kidneys and urinary tract. the baby presented with early hyperkalemia and acidosis. The typical biochemical features of the Bartter syndrome were observed in the second month. Despite appropriate treatment she had persistent hypercalciuria. The clinical course was complicated with recurrent episodes of febrile UTIs. Urinary tract system imaging did not demonstrate congenital anomalies. She finally died of severe dehydration, acidosis and renal failure. since no congenital anomaly of the kidneys or urinary tract was demonstrated in our patient, we believe that severe, persistent hypercalciuria is the most important risk factor for development of recurrent UTIs.

Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis.

Science.gov (United States)

Qiu, Liru; Yang, Fengjie; He, Yonghua; Yuan, Huiqing; Zhou, Jianhua

2018-03-09

Cystic fibrosis (CF) is a fatal autosomal-recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. CF is characterized by recurrent pulmonary infection with obstructive pulmonary disease. CF is common in the Caucasian population but is rare in the Chinese population. The symptoms of early-stage CF are often untypical and may sometimes manifest as Bartter syndrome (BS)-like hypokalemic alkalosis. Therefore, the ability of doctors to differentiate CF from BS-like hypokalemic alkalosis in Chinese infants is a great challenge in the timely and accurate diagnosis of CF. In China, sporadic CF has not been diagnosed in children younger than three years of age to date. Three infants, who were initially admitted to our hospital over the period of June 2013 to September 2014 with BS-like hypokalemic alkalosis, were diagnosed with CF through exome sequencing and sweat chloride measurement. The compound heterozygous mutations of the CFTR gene were detected in two infants, and a homozygous missense mutation was found in one infant. Among the six identified mutations, two are novel point mutations (c.1526G > C and c.3062C > T) that are possibly pathogenic. The three infants are the youngest Chinese patients to have been diagnosed with sporadic CF at a very early stage. Follow-up examination showed that all of the cases remained symptom-free after early intervention, indicating the potential benefit of very early diagnosis and timely intervention in children with CF. Our results demonstrate the necessity of distinguishing CF from BS in Chinese infants with hypokalemic alkalosis and the significant diagnostic value of powerful exome sequencing for rare genetic diseases. Furthermore, our findings expand the CFTR mutation spectrum associated with CF.

Polymyositis-like syndrome caused by hypothyroidism, presenting as camptocormia.

Science.gov (United States)

Kim, Ji Min; Song, Eun Joo; Seo, Jae Seok; Nam, Eon Jeong; Kang, Young Mo

2009-01-01

Polymyositis-like syndrome characterized by proximal muscle weakness and elevation of muscle enzymes may be a presenting manifestation of hypothyroidism. Camptocormia, which can be caused by myopathy of the paraspinal muscles, is an involuntary truncal flexion of the thoracolumbar spine while standing or walking. Among various neuromuscular disorders, hypothyroidism has not been reported in the literature as a cause of camptocormia. This is the first report of polymyositis-like syndrome with camptocormia caused by hypothyroidism.

Adult presentation of Bartter syndrome type IV with erythrocytosis.

Science.gov (United States)

Heilberg, Ita Pfeferman; Tótoli, Cláudia; Calado, Joaquim Tomaz

2015-01-01

Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increased urinary excretion of potassium and hydrogen, which leads to hypokalemic alkalosis. Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period. We report an unusual case of late onset presentation of Bartter syndrome IV and mild phenotype in a 20 years-old man who had hypokalemia, deafness, secondary hyperparathyroidism and erythrocytosis.

Neonatal opioid withdrawal syndrome.

Science.gov (United States)

Sutter, Mary Beth; Leeman, Lawrence; Hsi, Andrew

2014-06-01

Neonatal opioid withdrawal syndrome is common due to the current opioid addiction epidemic. Infants born to women covertly abusing prescription opioids may not be identified as at risk until withdrawal signs present. Buprenorphine is a newer treatment for maternal opioid addiction and appears to result in a milder withdrawal syndrome than methadone. Initial treatment is with nonpharmacological measures including decreasing stimuli, however pharmacological treatment is commonly required. Opioid monotherapy is preferred, with phenobarbital or clonidine uncommonly needed as adjunctive therapy. Rooming-in and breastfeeding may decease the severity of withdrawal. Limited evidence is available regarding long-term effects of perinatal opioid exposure. Copyright © 2014 Elsevier Inc. All rights reserved.

Poland-Mobius syndrome in an infant girl.

Science.gov (United States)

Al-Mazrou, Khalid A; Al-Ghonaim, Yazeed A; Al-Fayez, Abdulrhman I

2009-01-01

Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies . Poland described a condition in which there was unilateral absence of pectoralis major muscle and ipsilateral syndactyly. The combination of Poland-Mobius syndrome is rare, with an estimated prevalence 1:500 000. We describe a case of Poland-Mobius syndrome in association with congenital bilateral vocal fold immobility. To our knowldge, this is the first report of such an association between Poland-Mobius syndrome and congenital bilateral vocal fold immobility.

Relation of Infant Vision to Early Cognitive and Language Status.

Science.gov (United States)

Duckman, Robert; Tulloch, Deborah

Relationships between infant visual skills and the development of object permanence and expressive language skills were examined with 31 infants in three groups: visually typical, visually atypical, and Down Syndrome. Measures used to evaluate visual status were: forced preferential looking, optokinetic nystagmus, and behavioral. Object permanence…

Focal giant cell cardiomyopathy with Beckwith-Wiedemann syndrome.

Science.gov (United States)

Kapur, S; Kuehl, K S; Midgely, F M; Chandra, R S

1985-01-01

Cardiac involvement in Beckwith-Wiedemann syndrome is mostly limited to mild cardiomegaly. Although these patients have visceromegaly, macroglossia, gigantism, and adrenal cytomegaly, no significant myocardial changes have been described. An infant with dysmorphic features of this syndrome had supraventricular tachycardia since birth. Nodular lesions were present in the right atrium. Morphologically these lesions were composed of hypertrophic myocardial fibers admixed with multinucleated giant cells of myogenic origin. The exact nature of these lesions remains undetermined. It is postulated that hypertrophic myocardial cells may represent cardiac cytomegaly as a manifestation of the accelerated growth potential of cells seen with this syndrome.

Short bowel syndrome presenting with re-feeding syndrome in a Han Chinese patient: a case report

Directory of Open Access Journals (Sweden)

Xie Ying

2012-05-01

Full Text Available Abstract Introduction Re-feeding syndrome is common in patients with long-term starvation. To the best of our knowledge this case is the first to report a patient with short bowel syndrome developing re-feeding syndrome 12 years after the bowel resection. Case presentation A 33-year-old Chinese Han man underwent small bowel resection leaving only 40 cm of bowel, without an ileocecal valve, 12 years previously. At that time he was weaned from total parenteral nutrition and had a normal diet. He later developed features of severe malnutrition, and when parenteral nutrition was given, he developed re-feeding syndrome. Conclusion Although re-feeding syndrome is a common complication in patients with any kind of nutritional support, and known to us for many years, high risk patients still need more attention and monitoring. Re-feeding syndrome in this case was not only a macronutrients deficiency but also a micronutrient deficient, and prompt supplement therapy and organ function support proved to be successful.

Dandy-Walker variant in Coffin-Siris syndrome.

Science.gov (United States)

Imai, T; Hattori, H; Miyazaki, M; Higuchi, Y; Adachi, S; Nakahata, T

2001-04-22

We describe a five-month-old male infant with Coffin-Siris syndrome, the so-called Dandy-Walker variant (hypoplasia of the cerebellar vermis with cystic dilatation of the fourth ventricle, but without enlargement of the posterior fossa), and partial agenesis of the corpus callosum. Dandy-Walker malformation and mega cisterna magna, but not Dandy-Walker variant, have been reported in Coffin-Siris syndrome. The presence of Dandy-Walker variant in the infant we described confirms that the full continuum of the Dandy-Walker complex can occur in Coffin-Siris syndrome. The yet unidentified gene(s) for the syndrome may be related to the development of the hindbrain. Copyright 2001 Wiley-Liss, Inc.

Cortical heterotopia in Aicardi's syndrome - CT findings

International Nuclear Information System (INIS)

Besenski, N.; Bosnjak, V.; Ligutic, I.; Marusic-Della Marina, B.

1988-01-01

The case of 5-month-old female infant with Aicardi's syndrome is presented. The main clinical features were severe developmental retardation and intractable epileptic seizures. Ophthalmoscopic examination revealed pathognomonic choriorethinopathy. Ultrasonic examination of the brain detected agenesis of the corpus callosum, whereas CT showed a coexisting malformation of the brain, i.e. cortical heterotopia of the gray matter. Agenesis of the corpus callosum is an entity well-recognized by sonography. However, ultrasonography is an insufficient modality for the visualization of cortical heterotopia which is common to all cases of Aicardi's syndrome. Therefore, in cases of suspected Aicardi's syndrome CT is recommended, as it enables the diagnosis of cortical heterotopia. (orig.)

Recurrent progressive anterior segment fibrosis syndrome following a descemet-stripping endothelial keratoplasty in an infant with congenital aniridia

Directory of Open Access Journals (Sweden)

Mihir Kothari

2014-01-01

Full Text Available Progressive anterior segment fibrosis syndrome (ASFS, after intraocular surgery in older children (≥9 years and adults with congenital aniridia, is described in the literature. In this report, we describe an unique case of ASFS in an infant with congenital aniridia following a combined trabeculotomy-ectomy and its recurrence after a descemet stripping endothelial keratoplasty. The ophthalmologists should be well aware of this entity and warn the parents about its possibilities. Use of immunomodulators or prolonged anti-inflammatory therapy may be considered to prevent its occurrence.

Trends in infant bedding use: National Infant Sleep Position study, 1993-2010.

Science.gov (United States)

Shapiro-Mendoza, Carrie K; Colson, Eve R; Willinger, Marian; Rybin, Denis V; Camperlengo, Lena; Corwin, Michael J

2015-01-01

Use of potentially hazardous bedding, as defined by the American Academy of Pediatrics (eg, pillows, quilts, comforters, loose bedding), is a modifiable risk factor for sudden infant death syndrome and unintentional sleep-related suffocation. The proportion of US infants sleeping with these types of bedding is unknown. To investigate the US prevalence of and trends in bedding use, we analyzed 1993-2010 data from the National Infant Sleep Position study. Infants reported as being usually placed to sleep with blankets, quilts, pillows, and other similar materials under or covering them in the last 2 weeks were classified as bedding users. Logistic regression was used to describe characteristics associated with bedding use. From 1993 to 2010, bedding use declined but remained a widespread practice (moving average of 85.9% in 1993-1995 to 54.7% in 2008-2010). Prevalence was highest for infants of teen-aged mothers (83.5%) and lowest for infants born at term (55.6%). Bedding use was also frequently reported among infants sleeping in adult beds, on their sides, and on a shared surface. The rate of decline in bedding use was markedly less from 2001-2010 compared with 1993-2000. For 2007 to 2010, the strongest predictors (adjusted odds ratio: ≥1.5) of bedding use were young maternal age, non-white race and ethnicity, and not being college educated. Bedding use for infant sleep remains common despite recommendations against this practice. Understanding trends in bedding use is important for tailoring safe sleep interventions. Copyright © 2015 by the American Academy of Pediatrics.

The present challenges of parenteral nutrition in preterm infants and children

NARCIS (Netherlands)

van Goudoever, Johannes B.; Vlaardingerbroek, Hester

2013-01-01

The goal of pediatricians involved in the nutritional management of preterm infants is to mimic intrauterine growth and to obtain a functional outcome comparable to that for infants born at term. Appropriate administration of nutrients in the first few days to weeks of life will reduce the growth

Rendu-Osler-Weber syndrome presenting with pulmonary arteriovenous fistula

International Nuclear Information System (INIS)

Halefoglu, A.M.

2005-01-01

A pulmonary arteriovenous fistula is an abnormal connection between pulmonary arteries and veins. Patients with Rendu-Osler-Weber syndrome may present with this vascular malformation, which is a typical finding of the disease. Approximately 5-15% of Rendu-Osler-Weber syndrome patients have pulmonary arteriovenous malformations (AVM) and there is usually a family history of AVM in these patients. The malformations are usually located in the lower lobes. In this paper, I describe a 49-year-old male patient with dyspnoea, cough, haemoptysis and epistaxis. Physical examination showed nasal telangiectasias, cyanosis of the lips and nails, and a systolic bruit over the left lung. Chest X-ray revealed a 5-cm mass in the left lower lobe and after magnetic resonance examination, together with 3-D magnetic resonance angiography, it was demonstrated to be a pulmonary arteriovenous fistula. The history of a niece with a similar history of suspected pulmonary arteriovenous fistula led me to consider the possibility of Rendu-Osler-Weber syndrome presenting with a pulmonary arteriovenous fistula. Copyright (2005) Blackwell Science Pty Ltd

Maternal and infant characteristics associated with human milk feeding in very low birth weight infants.

Science.gov (United States)

Sisk, Paula M; Lovelady, Cheryl A; Dillard, Robert G; Gruber, Kenneth J; O'Shea, T Michael

2009-11-01

This study identified maternal and infant characteristics predicting human milk (HM) feeding in very low birth weight (VLBW) infants whose mothers (n = 184) participated in a study of lactation counseling and initiated milk expression. Data were collected prospectively, by maternal interview and medical record review. During hospitalization, 159 (86%) infants received at least 50% HM proportion of feedings in the first 2 weeks of life, and 114 (62%) received some HM until the day of hospital discharge. Analysis showed plan to breastfeed was the strongest predictor of initiation and duration of HM feeding. Greater than 12 years of education, respiratory distress syndrome, Apgar score >6, and female gender were significant predictors, and no perinatal hypertensive disorder, white race, and mechanical ventilation were marginal predictors of HM feeding. Women with a high-risk pregnancy should be provided education about the benefits of breastfeeding for infants who are likely to be born prematurely.

Turner Syndrome in Girls Presenting with Coarctation of the Aorta.

Science.gov (United States)

Eckhauser, Aaron; South, Sarah T; Meyers, Lindsay; Bleyl, Steven B; Botto, Lorenzo D

2015-11-01

To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta. The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded. Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve. At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta. Copyright © 2015 Elsevier Inc. All rights reserved.

Regional Infant and Child Mortality Review Committee--2011 final report.

Science.gov (United States)

Wilson, Ann L; Sideras, James

2012-12-01

The 2011 annual report of the Regional Infant and Child Mortality Review Committee (RICMRC) is presented. Since 1997, the committee has reviewed 224 deaths to achieve its mission to "review infant and child deaths so that information can be transformed into action to protect young lives." In 2011, the committee reviewed 21 deaths (22 met the committee's criteria) of infants and children who were residents of Minnehaha, Turner, Lincoln, Hanson and Brookings counties in South Dakota. The manner of 12 of the reviewed deaths was natural with eight of these the result of progressive neurological diseases or conditions. In 2011 there were no deaths attributed to Sudden Infant Death Syndrome (SIDS), though there were two deaths of infants during sleep. One of these infants was ruled accidental as the baby died of aspiration and the other death occurred in an unsafe environment with its manner determined to be undecided. Six deaths were accidental, one of which occurred as a result of a fire in a home without functional smoke alarms. One motor vehicle death occurred, through no fault of the teen age driver. Another death resulted from tubing over a low head dam on the Big Sioux River. One youth suicide occurred to a resident of the region.

Poland-Mobius syndrome in an infant girl

OpenAIRE

Al-Mazrou, Khalid A.; Al-Ghonaim, Yazeed A.; Al-Fayez, Abdulrhman I.

2009-01-01

Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies. Poland described a condition in which there was unilateral absence of pectoralis major muscle and ipsilateral syndactyly. The combination of Poland-Mobius syndrome is rare, with an estimated prevalence 1:500 000. We describe a case of Poland-Mobius syndrome in association with conge...

Cogan's syndrome: present and future directions.

LENUS (Irish Health Repository)

Murphy, Grainne

2009-08-01

Cogan\\'s syndrome, typified by the combination of interstitial keratitis and immune-mediated sensorineural hearing loss, is a rare condition, and commonly associated with a diagnostic delay. Using a standard search protocol, we review the literature to date, focusing on a number of key areas pertaining to diagnosis, presentation and treatment. Using a case illustration of atypical disease which led to fulminant aortic regurgitation, we highlight the need for continued and collaborative research in order to identify negative prognostic factors and thus tailor therapeutic regimens. Atypical Cogan\\'s syndrome is more commonly associated with systemic manifestations than typical disease, and may be refractory to immunosuppressive treatment. We discuss the application of laboratory (e.g antibodies targeting inner ear antigens) and radiological (PET-CT) aids to disease confirmation and detection of sub-clinical vascular inflammation. As illustrated by the included case description, some patients remain refractory to intense immunosuppression and delineation of adverse prognostic factors which may direct treatment, perhaps including the use of PET-CT, will contribute in the future to improving patient outcomes.

Metastatic neuroendocrine tumor with initial presentation of orbital apex syndrome

Directory of Open Access Journals (Sweden)

Yen-Yu Huang

2017-03-01

Full Text Available The possible etiologies of orbital apex syndrome range from inflammatory, infectious, neoplastic, iatrogenic/traumatic, to vascular processes. In patients without obvious infection or systemic cancer history, judicious use of corticosteroids is a reasonable strategy. We describe a 64-year-old man who presented with orbital apex syndrome and had progressed to total visual loss in three days after admission. Radiological imaging and pathological studies were consistent with a neuroendocrine tumor with multiple metastases. We recommend that a biopsy-proven specimen is warranted in patient with orbital apex syndrome even without a cancer history.

Dysphagia in infants after open heart procedures.

Science.gov (United States)

Yi, Sook-Hee; Kim, Sang-Jun; Huh, June; Jun, Tae-Gook; Cheon, Hee Jung; Kwon, Jeong-Yi

2013-06-01

The aims of this study were to evaluate the prevalence and the clinical predictors of dysphagia and to determine the characteristics of videofluoroscopic swallowing study findings in infants after open heart procedures. This study is a retrospective review of 146 infants who underwent open heart surgery. The infants with dysphagia were compared with those without dysphagia. The videofluoroscopic swallowing study findings of the infants with dysphagia were also evaluated. Of the 146 infants who underwent open heart surgery, 35 (24.0%) had dysphagia symptoms. The infants with dysphagia had lower body weight at operation, more malformation syndromes, longer operation times, and more complex operations than did the infants without dysphagia. In addition, the infants with dysphagia required more time to achieve full oral feeding and had longer hospital stays. Thirty-three infants underwent videofluoroscopic swallowing study: 32 (97.0%) exhibited at least one abnormal finding among the videofluoroscopic swallowing study parameters and 21 (63.6%) exhibited tracheal aspiration. Given the high rate of aspiration in the infants who underwent open heart procedures, monitoring and prompt recognition of the signs and the risk factors of dysphagia may substantially improve infant care with oral feeding and reduce the duration of hospital stays.

Permanent Childhood Hearing Impairment: Aetiological Evaluation of Infants identified through the Irish Newborn Hearing Screening Programme

LENUS (Irish Health Repository)

Smith, A

2017-11-01

The Newborn Hearing Screening Programme (NHSP) was established in Cork University Maternity Hospital (CUMH) in April 2011. Between April 2011 and July 2014, 42 infants were identified with a Permanent Childhood Hearing Impairment (PCHI). Following this diagnosis, infants underwent a paediatric assessment according to recognised guidelines with the intention of identifying the underlying aetiology of the PCHI. The aim of this study was to assess the findings of this aetiological workup via retrospective chart review. PCHI data was obtained from the eSP database. This is a web based information system (eSP) used to track each baby through the screening and referral process A retrospective chart review of these patients was performed. Sixteen (38%) infants were diagnosed with a bilateral sensorineural hearing loss. Two infants had congenital CMV infection. A Connexin 26 gene mutation was detected in one infant. Two infants were diagnosed with Waardenburg syndrome, One with Pendred syndrome and one with Pfeiffer syndrome. Five babies underwent cochlear implantation. Through adherence to the recommended protocol a possible cause of PCHI may be determined. This study has identified areas of future improvement for this service in Ireland.

Impact of a new national screening policy for Down's syndrome in Denmark

DEFF Research Database (Denmark)

Ekelund, Charlotte K; Jørgensen, Finn Stener; Petersen, Olav Bjørn

2008-01-01

OBJECTIVES: To evaluate the impact of a screening strategy in the first trimester, introduced in Denmark during 2004-6, on the number of infants born with Down's syndrome and the number of chorionic villus samplings and amniocenteses, and to determine detection and false positive rates...... and newborn infants with Down's syndrome diagnosed prenatally and postnatally and number of chorionic villus samplings and amniocenteses carried out. Secondary outcomes measured were number of women screened in 2005 and 2006, screen positive rate, and information on screening in 2005 and 2006 for infants...... with a postnatal diagnosis of Down's syndrome. RESULTS: The number of infants born with Down's syndrome decreased from 55-65 per year during 2000-4 to 31 in 2005 and 32 in 2006. The total number of chorionic villus samplings and amniocenteses carried out decreased from 7524 in 2000 to 3510 in 2006. The detection...

Unusual presentation of prune belly syndrome: a case report.

Science.gov (United States)

Demisse, Abayneh Girma; Berhanu, Ashenafi; Tadesse, Temesgen

2017-12-04

Prune belly syndrome is a rare congenital malformation of unknown etiology, with the following triad of findings: abdominal muscle wall weakness, undescended testes, and urinary tract abnormalities. In most cases, detection of prune belly syndrome occurs during neonatal or infancy period. In this case report, we describe a 12-year-old boy from Ethiopia with the triad of findings of prune belly syndrome along with skeletal malformations. We are unaware of any previous report of prune belly syndrome in Ethiopia. A 12-year-old Amhara boy from the Northwest Gondar Amhara regional state presented to our referral hospital with a complaint of swelling over his left flank for the past 3 months. Maternal pregnancy course and medical history were noncontributory, and he had an attended birth at a health center. He has seven siblings, none of whom had similar symptoms. On examination he had a distended abdomen, asymmetric with bulging left flank, visible horizontal line, upward umbilical slit, and absent rectus abdominis muscles. His abdomen was soft with a tender cystic, bimanually palpable mass on the left flank measuring 13 × 11 cm. Both testes were undescended and he also has developmental dysplasia of the hips. An abdominal ultrasound revealed a large cystic mass in his left kidney area with echo debris and a hip X-ray showed bilateral developmental dysplasia of the hip. Intraoperative findings were cystic left kidney, both testes were intraperitoneal, tortuous left renal vein, enlarged bladder reaching above umbilicus, and left megaureter. bilateral orchidectomy and left nephrectomy were done. He was given intravenously administered antibiotics for treatment of pyelonephritis and discharged home with an appointment for follow up and possible abdominoplasty. In the current report delayed presentation contributed to testicular atrophy and decision for orchidectomy. Furthermore, he will be at potential risk for sex hormone abnormality. Therefore, diagnosis of prune

Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents: Is there an age effect?

Science.gov (United States)

Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco

2017-06-01

There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with less severe symptoms and better psychosocial functioning than presentation in childhood or younger adolescence. Ninety-four CAD (age 9-18) meeting Attenuated Psychosis Syndrome criteria participated in the study. The sample was divided and compared according to the age of presentation of Attenuated Psychosis Syndrome (9-14 vs 15-18 years). The predictive value of age of Attenuated Psychosis Syndrome presentation was investigated using receiver operating characteristic (ROC)-curve calculations. The two Attenuated Psychosis Syndrome groups were homogeneous in terms of gender distribution, IQ scores and comorbid diagnoses. Older Attenuated Psychosis Syndrome patients showed better functioning and lower depressive scores. ROC curves revealed that severity of functional impairment was best predicted using an age of presentation cut-off of 14.9 years for social functioning and 15.9 years for role functioning. This study partially confirmed our hypothesis; older age at presentation of Attenuated Psychosis Syndrome was associated with less functional impairment, but age was not associated with psychotic symptoms. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

Bardet-biedl syndrome presenting with end stage renal failure

International Nuclear Information System (INIS)

Ansari, R.M.; Junejo, A. M.

2006-01-01

A young male presented in the Nephro-Urology Department with advanced renal failure, blindness in early childhood, polydactaly,obesity, decreased mentation and hypogonadism. With these phenotypical features and renal ultrasonographic findings, he was diagnosed as a case of Bardet-Biedl syndrome. Only one younger sister of patient had similar features. Renal impairment is frequent and an important cause of death. End stage renal disease (ESRD) is rarely seen in younger patient of Bardet-Biedl syndrome. However, ESRD in early age is associated with substantially reduced survival. (author)

West syndrome associated with administration of a histamine H1 antagonist, oxatomide.

Science.gov (United States)

Yamashita, Yushiro; Isagai, Takeo; Seki, Yoshitaka; Ohya, Takashi; Nagamitsu, Shinichiro; Matsuishi, Toyojiro

2004-01-01

We report a 4-month-old female infant who developed West syndrome eleven days after administration of a histamine H1 antagonist, oxatomide, for atopic dermatitis. It has been reported that some histamine H1 antagonists induce seizures in epileptic patients. The age, the interval between oxatomide administration, and the onset of West syndrome and its clinical course were similar to two previously reported 3-month-old infants with West syndrome associated with ketotifen administration. We should be cautious in using the histamine H1 antagonists, oxatomide and ketotifen, in young infants because such agents could potentially disturb the anticonvulsive central histaminergic system.

A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.

Science.gov (United States)

Jivani, Nurin; Torrado-Jule, Carmen; Vaiselbuh, Sarah; Romanos-Sirakis, Eleny

2016-11-01

Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.

Sudden infant death syndrome: The risk of infants in Bogotá, Colombia

Directory of Open Access Journals (Sweden)

María Luisa Latorre-Castro

2016-10-01

Conclusions: The results reflect the risk to which infants are exposed because of wrong practices associated with poor knowledge, and recommendations given, in many cases, by health professionals. Likewise, risk is higher among the poorest population.

Lung Maturation: The Survival Miracle of Very Low Birth Weight Infants

Directory of Open Access Journals (Sweden)

Alan H. Jobe

2010-02-01

Full Text Available The increased survival of very preterm infants is generally attributed to improved care strategies. This review develops the thesis that the features of abnormal pregnancies responsible for very preterm deliveries also provide an explanation of why very preterm infants often survive. A normal fetus born at 24 weeks is very unlikely to survive. However, pregnancies that result in deliveries at 24 weeks are generally highly abnormal, and may have been so for prolonged periods prior to the preterm deliveries. Inflammatory or vascular developmental abnormalities resulting in very preterm birth can alter fetal development in such a way that organ system maturation is induced. This is supported clinically by the relative lack of very preterm infants with respiratory distress syndrome. Interventions such as antenatal corticosteroid treatment and postnatal surfactant treatment for infants with respiratory distress syndrome and gentle ventilation strategies maximize fetal adaptations to the abnormal fetal environment and improve outcomes.

Impaired autoregulation of cerebral blood flow in the distressed newborn infant

DEFF Research Database (Denmark)

Lou, H C; Lassen, N A; Friis-Hansen, B

1979-01-01

Cerebral blood flow was measured, using the 133Xe clearance technique, a few hours after birth in 19 infants with varying degrees of respiratory distress syndrome. Ten of these infants had had asphyxia at birth. The least affected infants with normotension (systolic blood pressure 60 to 65 mm Hg......) had CBF values of about 40 ml/100 gm/minute. Hypotensive infants with asphyxia at birth or RDS or both had values for CBF of about 20 ml/100 gm/minute, or less. CBF was strongly correlated with the arterial blood pressure, showing a linear relationship that was identical in infants with asphyxia...

Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

Science.gov (United States)

Ben Hamouda, H; Mkacher, N; Elghezal, H; Bannour, H; Kamoun, M; Soua, H; Saad, A; Souissi, M M; Sfar, M T

2009-11-01

Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

Trends in Infant Bedding Use: National Infant Sleep Position Study, 1993–2010

Science.gov (United States)

Colson, Eve R.; Willinger, Marian; Rybin, Denis V.; Camperlengo, Lena; Corwin, Michael J.

2015-01-01

BACKGROUND: Use of potentially hazardous bedding, as defined by the American Academy of Pediatrics (eg, pillows, quilts, comforters, loose bedding), is a modifiable risk factor for sudden infant death syndrome and unintentional sleep-related suffocation. The proportion of US infants sleeping with these types of bedding is unknown. METHODS: To investigate the US prevalence of and trends in bedding use, we analyzed 1993–2010 data from the National Infant Sleep Position study. Infants reported as being usually placed to sleep with blankets, quilts, pillows, and other similar materials under or covering them in the last 2 weeks were classified as bedding users. Logistic regression was used to describe characteristics associated with bedding use. RESULTS: From 1993 to 2010, bedding use declined but remained a widespread practice (moving average of 85.9% in 1993–1995 to 54.7% in 2008–2010). Prevalence was highest for infants of teen-aged mothers (83.5%) and lowest for infants born at term (55.6%). Bedding use was also frequently reported among infants sleeping in adult beds, on their sides, and on a shared surface. The rate of decline in bedding use was markedly less from 2001–2010 compared with 1993–2000. For 2007 to 2010, the strongest predictors (adjusted odds ratio: ≥1.5) of bedding use were young maternal age, non-white race and ethnicity, and not being college educated. CONCLUSIONS: Bedding use for infant sleep remains common despite recommendations against this practice. Understanding trends in bedding use is important for tailoring safe sleep interventions. PMID:25452654

Association between Interleukin-10-1082 G/A and Tumor Necrosis Factor-α 308 G/A Gene Polymorphisms and Respiratory Distress Syndrome in Iranian Preterm Infants.

Science.gov (United States)

Khoshdel, Abolfazl; Kheiri, Soleiman; Omidvari, Peyman; Moradi, Fahimeh; Hamidi, Majid; Teimori, Hossein

2017-01-01

Cytokine polymorphisms may contribute to the prevalence of respiratory distress syndrome. The present study was done to investigate the frequency of interleukin- (IL-) 10 and tumor necrosis factor- (TNF-) α gene polymorphisms and their association with the risk of RDS in preterm infants. One-hundred and nineteen patients with RDS and 119 healthy preterm infants were enrolled. PCR restriction fragment length polymorphism was used to determine the frequency of IL-10 and TNF- α genotypes at -1082 A and -308 A, respectively. One-hundred and nineteen out of 238 infants had RDS (50%). The age of the mothers and gestational age ranged 17-45 (mean: 28.6 ± 5.3) years and 24-34 (mean: 34.3 ± 2.38) weeks, respectively. Totally, 23 deaths were recorded in the RDS group. Incidence of TNF- α -308 A/A and TNF- α -308 G/A was 84% and 16%, respectively. TNF-a-308 G/G was not found in both groups. Prevalence of IL-10-1082 G/G and IL-10-1082 G/A variants was 65.5% and 34.5%, respectively. IL-10-1082 A/A was not found in both groups. The incidence of the allele G in the IL-10-1082 polymorphism was lower in RDS group ( P < 0.05). We found that the risk of RDS was correlated to sex, gestational age, and IL-10-1082.

Cushing's Syndrome

Science.gov (United States)

... person cured of Cushing’s syndrome might have some memory loss and slight mental decline. But the change is ... Categories: Family Health, Infants and Toddlers, Kids and Teens, Men, Seniors, WomenTags: acth, adenomas, hormone, sickness September ...

Churg-Strauss syndrome presenting with conjunctival and eyelid masses: a case report.

Science.gov (United States)

Ameli, F; Phang, K S; Masir, N

2011-12-01

Churg-Strauss syndrome, a small and medium vessel vasculitis, was first described by Churg and Strauss in 1951. It is characterised by the presence of asthma, prominent tissue and blood eosinophilia, systemic vasculitis, and pulmonary and systemic necrotising allergic granulomas. Involvement of the skin, heart and gastrointestinal tract is well documented, but ocular presentation is unusual. We describe a 40-year-old lady who presented with recurrent upper eyelid swelling due to conjunctival lesions. Although she has chronic asthma, Churg-Strauss syndrome was never suspected. The diagnosis of Churg-Strauss syndrome was only made following histological examination of the conjunctival lesions.

Nighttime parenting strategies and sleep-related risks to infants.

Science.gov (United States)

Volpe, Lane E; Ball, Helen L; McKenna, James J

2013-02-01

A large social science and public health literature addresses infant sleep safety, with implications for infant mortality in the context of accidental deaths and Sudden Infant Death Syndrome (SIDS). As part of risk reduction campaigns in the USA, parents are encouraged to place infants supine and to alter infant bedding and elements of the sleep environment, and are discouraged from allowing infants to sleep unsupervised, from bed-sharing either at all or under specific circumstances, or from sofa-sharing. These recommendations are based on findings from large-scale epidemiological studies that generate odds ratios or relative risk statistics for various practices; however, detailed behavioural data on nighttime parenting and infant sleep environments are limited. To address this issue, this paper presents and discusses the implications of four case studies based on overnight observations conducted with first-time mothers and their four-month old infants. These case studies were collected at the Mother-Baby Behavioral Sleep Lab at the University of Notre Dame USA between September 2002 and June 2004. Each case study provides a detailed description based on video analysis of sleep-related risks observed while mother-infant dyads spent the night in a sleep lab. The case studies provide examples of mothers engaged in the strategic management of nighttime parenting for whom sleep-related risks to infants arose as a result of these strategies. Although risk reduction guidelines focus on eliminating potentially risky infant sleep practices as if the probability of death from each were equal, the majority of instances in which these occur are unlikely to result in infant mortality. Therefore, we hypothesise that mothers assess potential costs and benefits within margins of risk which are not acknowledged by risk-reduction campaigns. Exploring why mothers might choose to manage sleep and nighttime parenting in ways that appear to increase potential risks to infants may

Alberta Infant Motor Scale (AIMS) Performance of Greek Preterm Infants: Comparisons With Full-Term Infants of the Same Nationality and Impact of Prematurity-Related Morbidity Factors.

Science.gov (United States)

Syrengelas, Dimitrios; Kalampoki, Vassiliki; Kleisiouni, Paraskevi; Manta, Vassiliki; Mellos, Stavros; Pons, Roser; Chrousos, George P; Siahanidou, Tania

2016-07-01

Only a few studies have been conducted with the objective of creating norms of the Alberta Infant Motor Scale (AIMS) for the assessment of gross motor development of preterm infants. The AIMS performance of preterm infants has been compared with that of the Canadian norms of full-term infants, but not with that of full-term infants of the same nationality. Moreover, the possible impact of prematurity-related morbidity factors on AIMS performance is unknown. The aims of this study were: (1) to evaluate AIMS trajectory in a large population of Greek preterm infants and create norms, (2) to compare it with the AIMS trajectory of Greek full-term infants, and (3) to examine the possible influence of neonatal morbidity on AIMS scores in the preterm sample. This was a cross-sectional study. Mean AIMS scores were compared, per month (1-19), between 403 preterm infants (≤32 weeks of age, corrected for prematurity) and 1,038 full-term infants. In preterm infants, the association of AIMS scores with respiratory distress syndrome (RDS), intraventricular hemorrhage (IVH) of grade ≤III, bronchopulmonary dysplasia (BPD), retinopathy of prematurity (ROP), and sepsis was assessed by hierarchical regression analysis. Alberta Infant Motor Scale scores were significantly lower in preterm infants than in full-term infants. Mean AIMS scores in preterm infants were significantly associated with RDS (b=-1.93; 95% CI=-2.70, -1.16), IVH (b=-0.97; 95% CI=-1.69, -0.25), and ROP (b=-1.12; 95% CI=-1.99, -0.24) but not with BPD or sepsis in hierarchical regression analysis. Alberta Infant Motor Scale norms were created for Greek preterm infants. This study confirms that AIMS trajectories of preterm infants are below those of full-term infants of the same nationality. The influence of morbidity factors, including RDS, IVH, and ROP, should be taken into account when administering the AIMS in preterm infants. © 2016 American Physical Therapy Association.

Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome

Energy Technology Data Exchange (ETDEWEB)

Young, L.W.; Wilhelm, L.L. [Loma Linda Univ., CA (United States). Medical Center; Zuppan, C.W. [Div. of Pediatric Pathology, Loma Linda University Medical Center, CA (United States); Clark, R. [Div. of Medical Genetics, Loma Linda University Medical Center, CA (United States)

2001-01-01

A stillborn baby boy had findings of severe constitutional dwarfism with short limbs, short ribs, and polydactyly that were consistent with Naumoff (type III) short-rib polydactyly syndrome. He also had additional congenital anomalies, including cleft palate, notching of the upper lip, small tongue with accessory sublingual tissue. These oral and pharyngeal anomalies were consistent with Mohr (type II) oral-facial-digital syndrome. We suggest the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II). (orig.)

Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion

Directory of Open Access Journals (Sweden)

Edward J. Bellfield

2016-01-01

Full Text Available We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome. Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopituitarism. While MRI reading initially indicated no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ectopic posterior pituitary. This case demonstrates how deletion of genetic material, even if resulting in a chromosomal ring, still results in a severe syndromic phenotype. Furthermore, it demonstrates the necessity of close follow-up in the first year of life for children with 18p deletion syndrome and emphasizes the need to verify radiology impressions if there is any doubt as to the radiologic findings.

Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

Directory of Open Access Journals (Sweden)

Al-Otaibi Faisal

2012-05-01

Full Text Available Abstract Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management.

A RETROSPECTIVE STUDY ON CLINICAL PRESENTATION OF STEROID SENSITIVE NEPHROTIC SYNDROME

Directory of Open Access Journals (Sweden)

Sosamma M. M

2016-09-01

Full Text Available BACKGROUND Nephrotic syndrome is a disease affecting the renal system. Most paediatricians will invariably encounter children with nephrotic syndrome in their clinic. The disease is characterised by the presence of oedema, persistent heavy proteinuria, hypoproteinaemia and hypercholesterolaemia. The disease is influenced by factors like age, geography, race and also has certain genetic influence related to HLA (DR7, B12, B8. In children, minimal change nephrotic syndrome is the most common variant of primary nephrotic syndrome. It accounts to more than eighty per cent of the cases seen children under seven years whereas it has a chance of fifty per cent in the age group of seven to sixteen years. Males are affected two times higher compared to females. The parents usually bring the child to the hospital with signs of oedema. Usually, the child recovers with treatment, but in some cases, there can be relapse. MATERIALS AND METHODS  The study was conducted in the Department of Paediatrics, Travancore Medical College, Kollam.  The study was done from January 2015 to January 2016.  Sixty cases were identified and were chosen for the study. INCLUSION CRITERIA 1. Steroid sensitive cases of nephrotic syndrome. 2. Age less than twelve years. 3. Admitted cases. EXCLUSION CRITERIA 1. Steroid-resistant and steroid-dependent cases. 2. Age more than twelve years. 3. Outpatient cases. RESULTS Out of the sixty cases studied, forty one cases belonged to male sex and nineteen cases belonged to female sex. Based on the age group, maximum number of cases belonged to age group four to eight years, which amounted to thirty four cases followed by age group eight to twelve years, which amounted to eighteen cases. Age group zero to four years had the least number of cases, which amounted to eight in number. Based on clinical signs and symptoms, fifty five cases presented with oedema either periorbital, scrotal or pedal oedema. Ten cases presented with fever

Congenital chylous ascites in infants: another presentation of intestinal malrotation.

Science.gov (United States)

Long, Li; Zhen, Chen; Yandong, Wei; Ning, Dong; Qi, Li; Qing, Gao

2018-03-01

The cause of the chylous ascites in infants isn't completely clear. The purpose of this study is to discuss our experience of recognition of intestinal malrotation as a cause of congenital chylous ascites in infants. Medical information of 10 infants with chylous ascites, who were admitted to the hospital between 2001 and 2014, was retrospective analyzed. Preoperatively, all patients underwent a period of conservative treatment. We found that nine of ten patients with intestinal malrotation, six of them underwent laparoscopic Ladd's procedure and three patients underwent open Ladd's procedure. The remaining one patient suffered from mesenteric lymph nodes rupture and laparoscopic resection was performed. The cylous ascites subsided in all patients after the surgery and no significant recurrence was encountered during follow-up time. Our study demonstrates that congenital chylous ascites could be caused by intestinal malrotation, causing the obstruction of the lymphatic flow in the mesenteric lymphatic channels. Ladd's procedure maybe a safe and effective treatment for infantile intractable chylous ascites. Treatment study. Level IV. Copyright © 2017 Elsevier Inc. All rights reserved.

Metabonomics reveals metabolite changes in biliary atresia infants.

Science.gov (United States)

Zhou, Kejun; Xie, Guoxiang; Wang, Jun; Zhao, Aihua; Liu, Jiajian; Su, Mingming; Ni, Yan; Zhou, Ying; Pan, Weihua; Che, Yanran; Zhang, Ting; Xiao, Yongtao; Wang, Yang; Wen, Jie; Jia, Wei; Cai, Wei

2015-06-05

Biliary atresia (BA) is a rare neonatal cholestatic disorder caused by obstruction of extra- and intra-hepatic bile ducts. If untreated, progressive liver cirrhosis will lead to death within 2 years. Early diagnosis and operation improve the outcome significantly. Infants with neonatal hepatitis syndrome (NHS) present similar symptoms, confounding the early diagnosis of BA. The lack of noninvasive diagnostic methods to differentiate BA from NHS greatly delays the surgery of BA infants, thus deteriorating the outcome. Here we performed a metabolomics study in plasma of BA, NHS, and healthy infants using gas chromatography-time-of-flight mass spectrometry. Scores plots of orthogonal partial least-squares discriminant analysis clearly separated BA from NHS and healthy infants. Eighteen metabolites were found to be differentially expressed between BA and NHS, among which seven (l-glutamic acid, l-ornithine, l-isoleucine, l-lysine, l-valine, l-tryptophan, and l-serine) were amino acids. The altered amino acids were quantitatively verified using ultraperformance liquid chromatography-tandem mass spectrometry. Ingenuity pathway analysis revealed the network of "Cellular Function and Maintenance, Hepatic System Development and Function, Neurological Disease" was altered most significantly. This study suggests that plasma metabolic profiling has great potential in differentiating BA from NHS, and amino acid metabolism is significantly different between the two diseases.

Pulmonary emphysema in a neonate with Marfan syndrome

Energy Technology Data Exchange (ETDEWEB)

Day, D L; Burke, B A

1986-09-01

A premature infant with arachnodactyly and congential cyanotic heart disease had severe pulmonary emphysema, a little-known manifestation of Marfan syndrome. The possible etiologies of emphysema in this syndrome are discussed.

Improvement in Parenteral Nutrition-Associated Cholestasis With the Use of Omegaven in an Infant With Short Bowel Syndrome.

Science.gov (United States)

Strang, Brian J; Reddix, Bruce A; Wolk, Robert A

2016-10-01

Parenteral nutrition-associated cholestasis (PNAC) and liver disease have been associated with soybean oil-based intravenous fat emulsions (IVFEs). The benefit of fish oil-based IVFEs in the reversal of parenteral nutrition (PN)-associated liver damage includes allowing for longer PN duration without immediate need for bowel or liver transplantation. The present case involves an infant born with short bowel syndrome (SBS) requiring long-term PN with development of PNAC and subsequent administration of a fish oil-based IVFE. An infant born with SBS was initiated on PN and enteral feeds. After failed enteral progression, bowel lengthening by serial transverse enteroplasty (STEP) resulted in postoperative ileus with delayed enteral feeding for 4 weeks. The administration of long-term PN led to development of PNAC, resulting in initiation of a fish oil-based IVFE. After 4 months, the cholestasis had resolved. Despite the STEP, at 16 months, the child required bowel tapering due to inability to advance enteral feeding. Fish oil-based IVFE was effectively used to reverse PNAC in a child with SBS. Despite early STEP, the patient was not able to tolerate enteral feedings and required bowel tapering. This case illustrates that early surgical intervention did not allow for improved feed tolerance. This resulted in a significant period without enteral nutrition, leading to development of cholestasis. The use of fish oil-based IVFE may permit a longer duration of PN administration without the development of cholestasis or liver disease, allowing for longer time for bowel adaptation prior to the need for surgical intervention. © 2016 American Society for Parenteral and Enteral Nutrition.

Down syndrome in black South African infants and children - clinical ...

African Journals Online (AJOL)

Province. All infants had been referred for clinical assessment and counselling of the parents. As part of the clinical evaluation the patients' mothers were questioned by the author using a structured interview to collect biographical information, establish the infants' birth order, and ascertain when the mother first became.

Multiple Autoimmune Syndromes Associated with Psoriasis: A Rare Clinical Presentation

Directory of Open Access Journals (Sweden)

Sadia Masood

2014-03-01

Full Text Available Autoimmune diseases are known to have association with each other but it is very rare to see multiple autoimmune diseases in one patient. The combination of at least three autoimmune diseases in the same patient is referred to as multiple autoimmune syndrome. The case we are reporting features multiple autoimmune syndrome with five different conditions. The patient had type 1 diabetes mellitus, autoimmune hemolytic anemia, systemic lupus erythematosus, vitiligo, and psoriasis. Psoriasis has rarely been reported previously under the spectrum of autoimmune syndrome. Although the relationship of autoimmune conditions with each other has been explored in the past, this case adds yet another dimension to the unique evolution of autoimmune pathologies. The patient presented with a combination of five autoimmune diseases, which makes it consistent type three multiple autoimmune syndromes with the addition of psoriasis. The current case is unique in this aspect that the combination of these five autoimmune disorders has never been reported in the past.

Sacrococcygeal Teratoma Presenting with Vaginal Discharge and Polyp in an Infant.

Science.gov (United States)

Ladenhauf, Hannah N; Brandtner, M Georgina; Schimke, Christa; Ardelean, Mircia A; Metzger, Roman

2018-06-01

Sacrococcygeal teratoma accounts for the most common solid tumor in neonates. Because of improved technology, 50%-70% of cases can be diagnosed antenatally during routine ultrasound screenings. If not diagnosed antenatally, clinical findings at birth are distinct in most cases including a palpable or visible mass. We report an unusual case of a 1-year-old girl who presented with persistent vaginal discharge leading to diagnosis of a mucosal polypoid lesion of the vagina, ultimately revealing a hidden sacrococcygeal teratoma. We suggest thorough investigation of all infants who present with purulent discharge and recurrent vaginal mass; sacrococcygeal teratoma should routinely be considered as a differential diagnosis. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Prevalent infant feeding practices among the mothers presenting at a tertiary care hospital in Garhwal Himalayan region, Uttarakhand, India

Directory of Open Access Journals (Sweden)

Vyas Kumar Rathaur

2018-01-01

Full Text Available Introduction: There is paucity of studies on infant feeding practices from the rural areas of garhwal Himalayas of the state of uttarakhand. The present study was designed to assess the infant feeding practices in Garhwal region. Infant feeding practices have significant implications on a child's health. Early nutritional status especially during the first year of life has been shown to have a significant effect on child health and development. Optimal infant feeding practices are crucial for nutritional status, growth, development, health, and ultimately the survival of infants and young children. The study of infant feeding practices is essential before formulation of any interventional programme. Settings and Design: A study was conducted in HNB Base Hospital and Teaching Institute with the aim to assess the infant feeding practices and the prevalence of malnutrition in the study population reporting at the hospital in garhwal region of uttarakhand. Methods and Material: This is an observational cross sectional study. 275 infants were included in the study. After taking informed consent, case study forms were filled by interviewing the infants' mothers. Weight, length and head circumference of each infant was also measured. The information thus obtained was compiled, tabulated and analysed statistically. Results: The study findings revealed that 46.4% infants in the age group 0-5 months were breastfed within 1 hour of birth. 52.8% infants aged 0-5 months of were exclusively breastfed. 33.6% infants in age group 0-5 months received prelacteal feeds. 53.12% infants in age group 6-8 months received solid, semi-solid or soft food, in addition to breast milk. 53.33% infants were partially or fully bottle fed. Age appropriate feeding was found in 56% infants. The percentage of wasting, stunting and underweight in 0-5 months was 33.6%,30.4% and 36.8% respectively . The percentage of wasting, stunting and underweight in 6-11 months was 28%, 26.5% and

Mounier-Kuhn syndrome: radiological findings and clinical presentation

Energy Technology Data Exchange (ETDEWEB)

Bastos, Andrea de Lima [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Unidade de Diagnostico por Imagem; Brito, Isabela Lage Alves, E-mail: andblima@yahoo.com.b [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Dept. de Pneumologia

2011-05-15

Mounier-Kuhn syndrome is a rare disease clinically characterized by recurrent respiratory infections. The present report describes a case of this disease with analysis of chest radiography and high resolution computed tomography showing increased caliber of the trachea, main bronchi and central bronchiectasis. Such changes, in association with clinical data, suggest the diagnosis. (author)

Pulmonary emphysema in a neonate with Marfan syndrome

International Nuclear Information System (INIS)

Day, D.L.; Burke, B.A.

1986-01-01

A premature infant with arachnodactyly and congential cyanotic heart disease had severe pulmonary emphysema, a little-known manifestation of Marfan syndrome. The possible etiologies of emphysema in this syndrome are discussed. (orig.)

ACUTE ENCEPHALITIS SYNDROME (AES ASSOCIATED WITH SOCIOCULTURAL AND ENVIRONMENTAL RISK FACTORS IN INFANTS/CHILDREN OF MUZAFFARPUR, BIHARHOSPITAL-BASED, PROSPECTIVE STUDY

Directory of Open Access Journals (Sweden)

Sudhir

2018-01-01

Full Text Available BACKGROUND Acute encephalitis syndrome is a group of clinical neurologic manifestation caused by wide range of viruses, bacteria, fungus, parasites, spirochetes, chemicals and toxins. According to AES guidelines- Acute encephalitis syndrome due to unknown agent is defined as a suspected case in which no diagnostic testing is performed or in which testing was performed, but no aetiological agent was identified or in which the test results were indeterminate. Acute encephalitis syndrome in children is due to interaction of several factors in combination. The aim of the study is to evaluate the sociocultural and environmental factors, which plays a major role in AES. MATERIALS AND METHODS The study design was non-interventional, hospital-based, prospective study. The study was conducted at Paediatric Department of S.K.M.C.H., Muzaffarpur, Bihar, over a period of January 1, 2015, to July 31, 2017. Infants/children admitted in S.K.M.C.H., Muzaffarpur, were included in study. All defined cases according to AES guidelines were included and 92 infants/children were selected. Percentage, proportion and Chi-square test were performed for statistical analysis. RESULTS Among 92 selected infants/children, AES was highest in rural area, 80 (86.95%. The seasonal incidence of AES was March to July in which highest incidence was found in June, 63 (68.47%. Highest incidence of AES was seen between 1-5 years of age. There was significant statistical association among age of children and AES. AES was more common in male than female. AES was highest in dwellers of kachcha (mud house. AES was highest, 90 (97.82% among children of labour/farmer. AES was highest, 90 (97.82% in which mother was illiterate. Incidence of AES was highest in Hindu religion. All AES, 92 (100% was seen in malnourished/undernourished children. CONCLUSION Sociocultural and environmental factors were the major determinant risk factors for AES. Among these, malnutrition/under nutrition was the

An Infant With Transient Neonatal Pustular Melanosis Presenting as Pustules

Directory of Open Access Journals (Sweden)

Pei-San Chia

2010-12-01

Full Text Available Transient neonatal pustular melanosis is mostly found in full-term black infants. It is a benign and self-limited disease, and the etiology is still unknown. We present a full-term female neonate with multiple vesiculopustular and pigmented macular lesions found immediately after her birth. A skin biopsy showed vesicles consisting of intracorneal and subcorneal aggregates of neutrophils, which is compatible with transient neonatal pustular melanosis. Although it is rare in Taiwan and Asian countries, transient neonatal pustular melanosis should always be considered when pustulosis is found in the neonatal period to prevent the use of unnecessary antibiotics. Dermatological consultation and histological confirmation are sometimes required for the final diagnosis.

Two Obese Patients with Presumptive Diagnosis of Anaphylactoid Syndrome of Pregnancy Presenting at a Community Hospital.

Science.gov (United States)

Kradel, Brian K; Hinson, Scarlett B; Smith, Carr J

2016-07-01

Anaphylactoid syndrome of pregnancy (ASP) is a rare but extremely serious complication, with an estimated incidence in North America of 1 in 15 200 deliveries. Despite its rarity, ASP is responsible for approximately 10% of all childbirth-associated deaths in the United States. At present, there is no validated biomarker or specific set of risk factors sufficiently predictive of ASP risk to incorporate into clinical practice. Toward the goal of developing a methodology predictive of an impending ASP event for use by obstetricians, anesthesiologists, and other practitioners participating in infant deliveries, physicians encountering an ASP event have been encouraged to report the occurrence of a case and its biologically plausible risk factors. Herein, we report on 2 patients who presented with a presumptive diagnosis of ASP to the delivery unit of a community hospital. Patient One was a 21-year-old, obese (5'11" tall, 250 lbs., BMI 34.9) white female, 1 pregnancy, no live births (G1P0), estimated gestational age (EGA) 40.2 weeks. Patient Two was a 29-year-old, obese (5'7" tall, 307 lbs., BMI 48.1) Hispanic female, second pregnancy, with 1 previous live birth via C-section (G2P1-0-0-1). Her pregnancy was at gestational age 38 weeks plus 2 days. Patient One had 2 possible risk factors: administration of Pitocin to induce labor and post-coital spotting from recent intercourse. Patient Two suffered premature rupture of the placental membranes. Both Patient One and Patient Two had very high body mass indices (BMIs), at the 97th and 99th percentiles, respectively. In the relatively few cases of anaphylactoid syndrome of pregnancy described to date, this is the first report of a possible association with high BMI.

Intermittent Brugada Syndrome Presenting with Syncope in an Adult Female

Directory of Open Access Journals (Sweden)

Patricia Chavez

2014-01-01

Full Text Available Background. Brugada syndrome accounts for 4–12% of all sudden deaths worldwide and at least 20% of sudden deaths in patients with structurally normal hearts. Case Report. A 48-year-old female presented to the emergency department after two witnessed syncopal episodes. While awaiting discharge had a third collapse followed by cardiac arrest with shockable rhythm. Initial electrocardiogram showed wide QRS complex with left axis deviation, ST-segment elevation of 2 mm followed by a negative T wave with no isoelectric separation, suggestive of spontaneous intermittent Brugada type 1 pattern. Cardiac magnetic resonance imaging demonstrated neither structural heart disease nor abnormal myocardium. After placement of an implantable cardioverter defibrillator the patient was discharged. Why should an emergency physician be aware of this? Brugada syndrome is an infrequently encountered clinical entity which may have a fatal outcome. This syndrome primarily presents with syncope. It should be considered as a component of differential diagnosis in patients with family history of syncope and sudden cardiac death.

A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive.

Science.gov (United States)

Bellfield, Edward J; Shad, Zohra

2017-09-01

We describe a 24-month-old male patient who presented to our Genetics-Endocrinology Clinic with a history of failure to thrive, short stature and cryptorchidism. Soon after birth he was diagnosed with 47,XYY syndrome, but due unusual facial features had further diagnostic workup which revealed Noonan syndrome (NS) as well. This report illustrates significant phenotypic-cytogenetic variability within the clinical presentation of NS and 47,XYY syndrome, as well as the need to investigate patients for other genetic defects when phenotype does not correlate with genotype. Furthermore, in this case, the cellular pathways attenuating growth via PTPN11 mutation appear to supersede the SHOX overdosage-an observation that can lead to further research in genetic mechanisms of growth physiology.

Is it Time for a Sudden Infant Death Syndrome (SIDS) Awareness Campaign? Community Stakeholders' Perceptions of SIDS.

Science.gov (United States)

Gollenberg, Audra; Fendley, Kim

2018-01-01

Sudden infant death syndrome (SIDS) remains a leading cause of infant death in the United States and in Virginia, the SIDS rate is higher than the national average. We sought to gauge the perceptions among community-identified stakeholders as to community resource needs to reduce SIDS. We used snowball sampling to identify important community stakeholders to be interviewed as key informants. A semi-structured interview lasting 45 min-2 hours was delivered to determine resource needs to reduce SIDS, and whether high-risk community members were aware of SIDS risk factors among stakeholders representing a variety of disciplines. Interviews were conducted in two geographic areas with higher than average rates of infant mortality, an urban district, Winchester City, VA and a rural district, Page County, VA. A total of 74 interviews were completed with stakeholders in healthcare, health departments, social services, law enforcement, education/childcare, faith-based institutions, non-profit agencies and non-affiliated community members. The majority of respondents perceive that high-risk community members are not aware of factors that can lead to SIDS (50%). Participants suggested that more "education" is needed to further reduce the rates of SIDS in their communities (73%). Respondents detailed that more pervasive, strategic, and multi-channeled education is necessary to reduce cases of SIDS. Community leaders perceive that high-risk community members are not fully aware of risk factors that can lead to SIDS. Maternal/child health stakeholders in these Virginia locales suggested more community-based education as a potential solution to SIDS.

Resolution of Spatial and Temporal Visual Attention in Infants with Fragile X Syndrome

Science.gov (United States)

Farzin, Faraz; Rivera, Susan M.; Whitney, David

2011-01-01

Fragile X syndrome is the most common cause of inherited intellectual impairment and the most common single-gene cause of autism. Individuals with fragile X syndrome present with a neurobehavioural phenotype that includes selective deficits in spatiotemporal visual perception associated with neural processing in frontal-parietal networks of the…

Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.

Science.gov (United States)

Westland, Rik; Hack, Wilfried W; van der Horst, Henricus J R; Uittenbogaard, Lukas B; van Hagen, Johanna M; van der Valk, Paul; Kamsteeg, Erik J; van den Heuvel, Lambert P; van Wijk, Joanna A E

2012-12-01

Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2 years of life, known as classic Bartter syndrome. However, in rare cases Bartter syndrome Type III has an antenatal presentation with polyhydramnios, premature delivery and severe dehydration in the first weeks of life. Associations between congenital anomalies of the kidney and urinary tract and Bartter syndrome are extremely rare. This case report presents a girl with Bartter syndrome Type III due to a homozygous CLCNKB mutation and bilateral congenital anomalies of the kidney and urinary tract. In addition, we describe the antenatal presentation as well as its perinatal management.

Pulmonary diseases of the infants weighing under 1500 grams at birth: clinical and radiographic findings

International Nuclear Information System (INIS)

Kim, Ok Hwa; Park, Jeong Mi; Bahk, Yong Whee

1990-01-01

Since the introduction of the intensive perinatal care, the survival rate of the infants weighing less than 1500 gm at birth has improved substantially. However, pulmonary diseases remain to be the major causes of the high mortality of these low birthweight infants. In order to systematically assess an epidemiologic distribution of the pulmonary diseases in these very low weight prematures, we have analyzed the chest x-rays of 102 infants weighing less than 1500 gm. These consisted of 30 with extreme low birth weight (ELBW) weighing less than 1000 gm and 72 with very low birth weight (VLBW) weighing 1001 - 1500 gm. The survival rate of ELBW and VLBW was 10% and 49%, respectively. Seventy of 102 infants had abnormal findings in the chest x-ray. Forty-eight had idiopathic respiratory distress syndrome (IRDS), 8 immature lung, 6 Wilson-Mikity syndrome, 4 pneumonia, 2 pulmonary hemorrhage, 1 congenital heart disease, and 1 suspicious Pierre-Robin syndrome. Seven out of 48 infants with IRDS had persistent ductus arteriosus, and in only 2(30%) of 7 cases were alive. Endotracheal intubation and assisted ventilation application for the treatment of IRDS resulted in pulmonary interstitial emphysema in 4 infants and pneumothorax and / or pneumomediastinum in 4 infants. Displacement of endotracheal intubation showed lobar and / or unilateral lung atelectasis in 8 infants and a case of accidental dislodgement of intubation tube into the esophagus resulted in air esophagogram and worsened lung aeration. In spite of the development of many sophisticated methods of diagnostic radiology, the chest x-ray was still the most valuable yet simple way of evaluating the pulmonary problems in these extreme and very low birth weight prematures

Guillain-Barre syndrome in a 7-month-old boy successfully applied plasma exchange.

Science.gov (United States)

Akarcan, Sanem Eren; İşgüder, Rana; Yılmaz, Ünsal; Ayhan, Yüce; Ceylan, Gökhan; Ağın, Hasan

2016-02-01

Despite being the most common cause of acute flaccid paralysis in children Guillain-Barré syndrome has a low incidence under 18 years old, and is even rarer under the age of 2. Established treatment regimens include intravenous immunoglobulin and plasma exchange in older children and adults. However very limited data are available for the efficacy and safety of plasma exchange in infants younger than 12 month-old. This article presents the experience of plasma exchange in the case of 7-month-old boy diagnosed with Guillain-Barré syndrome. A 7-month-old boy was referred to the pediatric intensive care unit with a 10-day history of progressive weakness, feeding difficulty and constipation. He was diagnosed with axonal Guillain-Barré syndrome on the basis of clinical and electromyographical findings. The patient recovered fully with intravenous immunoglobulin and plasma exchange. Plasma exchange may be a safe option in the treatment in infants with Guillain-Barré syndrome as young as 7-month-age. Copyright © 2016 Elsevier Ltd. All rights reserved.

Randomized controlled trial of two methods of nasal continuous positive airway pressure (N-CPAP) in preterm infants with respiratory distress syndrome: underwater bubbly CPAP vs. Medijet system device.

Science.gov (United States)

Hosseini, Mohammad Bagher; Heidarzadeh, Mohammad; Balila, Masumeh; Ghojazadeh, Morteza; Janani, Raheleh; Safavi-nia, Sima; Naghavi-Behzad, Mohammad; Alikhah, Hossein

2012-01-01

There has been an increasing interest in the application of non-invasive respiratory support in preterm infants, and different types of nasal continuous positive airway pressure (N-CPAP) devices are being used in Neonatal Intensive Care Units (NICUs). The objective of the present study was to compare the duration of CPAP need and possible complications of two methods of (N-CPAP) delivery: Bubble CPAP (B-CPAP) and Medijet (MJ) system device in preterm infants with respiratory distress syndrome (RDS). This prospective randomized clinical trial was performed on 161 preterm infants (28-37 weeks of gestational age) with RDS and eligible for CPAP therapy. The infants were inborn and admitted in a level III NICU of Al-Zahra Teaching Hospital (Tabriz, Iran) from April 2010 to September 2011. All infants were randomized in the first hour of life to B-CPAP or MJ system. Short binasal prongs were used in both groups and CPAP was set at the level of 5-6 cm H2O. The primary outcome of this study was duration of CPAP need (hour). Other outcomes, such as complications of the two methods of N-CPAP, were evaluated using a checklist. Ninety infants were randomized to the MJ system, and 71 were randomized to B-CPAP. The mean gestational age and birth weight were similar in the two groups, as was the duration of CPAP need (44.3 ± 20.64 vs. 49.2 ± 21.2 hours, respectively; p=0.66). Moreover, the probability of complications, such as CPAP failure rate, pulmonary hemorrhage, pneumothorax, intraventricular hemorrhage, abdominal distention, necrotizing enterocolitis, and bronchopulmonary dysplasia, was the same between the two study groups (p>0.05). There was a trend of more hyperemia of the nose in the B-CPAP group in comparison to the MJ system group (10% versus 3.3%, respectively), but the difference was not significant (p=0.08). In conclusion, the MJ system is as effective as B-CPAP in the management of infants with RDS.

Ellis van creveld syndrome with unusual association of essential infantile esotropia

Directory of Open Access Journals (Sweden)

D Das

2010-01-01

Full Text Available Ellis-van Creveld syndrome is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and dental anomalies, nail dysplasia and in 50-60% cases of congenital cardiac defects. It is an autosomal recessive disorder with mutations of the EVC1 and EVC2 genes located on chromosome 4p16. Patients with this syndrome usually have a high mortality in early life due to cardiorespiratory problems. We present the case of a six- month-old female infant with Ellis-van Creveld syndrome - essential infantile esotropia, which has been infrequently documented in the literature.

The Development of the circadian heart rate rhytm (CDR) in Asian infants

OpenAIRE

Stanislaus Sandarupa, Drs., M.A., Ph.D.

2011-01-01

Although the human fetus can follow the maternal circadian thythm, the enterained expression of the circadian clock, based in the suprachiasmatic nucleus (SCN) of the hypothalamus awaits postnatal maturation of the retinal hypothalamic tract, and melatonin neurotransmission. Objective: To test the hypothesis that term-born Asian Infants, at reduced risk to die of Sudden Infant Death Syndrome (SIDS) exhibit a circadian heat rate thythm (CHR) at a later age than non-Asian term infants.

Contribution of Histologic Chorioamnionitis and Fetal Inflammatory Response Syndrome to Increased Risk of Brain Injury in Infants With Preterm Premature Rupture of Membranes.

Science.gov (United States)

Lu, Hong-Yan; Zhang, Qiang; Wang, Qiu-Xia; Lu, Jun-Ying

2016-08-01

To determine the association of histologic chorioamnionitis (HCA) and fetal inflammatory response syndrome (FIRS) with brain injuries in infants born to mothers with preterm premature rupture of membranes. A total of 103 singleton infants born to mothers with preterm premature rupture of membranes were enrolled. The placental inflammation was confirmed by HCA, and FIRS was defined in fetuses with preterm labor and an elevation of the fetal plasma interleukin-6 concentration. Examination of brain images was conducted to confirm the existence of brain injuries. Based on placental HCA and umbilical cord blood interleukin-6 level, all patients were divided into three groups: HCA(-)FIRS(+), HCA(+)FIRS(-), and HCA(+)FIRS(+). Among all infants with preterm premature rupture of membranes, 53.40% were exposed to HCA, 20.38% experienced FIRS, and the overall incidence of brain injuries was 38.83%. The incidence of brain injury in HCA(-)FIRS(+), HCA(+)FIRS(-), and HCA(+)FIRS(+) groups were 20.83%, 41.18%, and 76.19%, respectively. HCA at the advanced grades and stages was associated with increased risk of brain injury. Umbilical cord blood levels of interleukin-6 (IL-6), interleukin-8 (IL-8), tumor necrosis factor alpha (TNF-α), and granulocyte-colony stimulating factor (G-CSF) in premature infants with brain injuries were significantly higher than in those without brain injuries. Infants diagnosed with both HCA and FIRS showed significantly higher levels of IL-8, TNF-α, and G-CSF than those with HCA alone. Preterm infants exposed to severe chorioamnionitis had an increased risk of brain injury. IL-6, IL-8, TNF-α, and G-CSF in cord blood were associated with brain injuries in preterm infants and may be used as extradiagnostic criteria. Copyright © 2016 Elsevier Inc. All rights reserved.

Bartsocas-papas syndrome: unusual findings in the first reported egyptian family.

Science.gov (United States)

Abdalla, E M; Morsy, H

2011-01-01

Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia, the condition is usually more severe and often lethal: most affected patients die in utero or shortly after birth. We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia. This male patient actually did not present with pterygia, however, we find his clinical description noteworthy.

Association between Interleukin-10-1082 G/A and Tumor Necrosis Factor-α 308 G/A Gene Polymorphisms and Respiratory Distress Syndrome in Iranian Preterm Infants

Directory of Open Access Journals (Sweden)

Abolfazl Khoshdel

2017-01-01

Full Text Available Cytokine polymorphisms may contribute to the prevalence of respiratory distress syndrome. The present study was done to investigate the frequency of interleukin- (IL- 10 and tumor necrosis factor- (TNF- α gene polymorphisms and their association with the risk of RDS in preterm infants. One-hundred and nineteen patients with RDS and 119 healthy preterm infants were enrolled. PCR restriction fragment length polymorphism was used to determine the frequency of IL-10 and TNF-α genotypes at -1082 A and -308 A, respectively. One-hundred and nineteen out of 238 infants had RDS (50%. The age of the mothers and gestational age ranged 17–45 (mean: 28.6±5.3 years and 24–34 (mean: 34.3±2.38 weeks, respectively. Totally, 23 deaths were recorded in the RDS group. Incidence of TNF-α-308 A/A and TNF-α-308 G/A was 84% and 16%, respectively. TNF-a-308 G/G was not found in both groups. Prevalence of IL-10-1082 G/G and IL-10-1082 G/A variants was 65.5% and 34.5%, respectively. IL-10-1082 A/A was not found in both groups. The incidence of the allele G in the IL-10-1082 polymorphism was lower in RDS group (P<0.05. We found that the risk of RDS was correlated to sex, gestational age, and IL-10-1082.

Risk profiles of infants ≥32 weeks' gestational age with ...

African Journals Online (AJOL)

Interference with the nutritional requirements of infants may cause negative ... central nervous system impairments, neurodevelopmental delay and syndromes affecting craniofacial ..... Dysphagia: Clinical Management in Adults and. Children.

Trends of Social Inequalities in the Specific Causes of Infant Mortality in a Nationwide Birth Cohort in Korea, 1995-2009.

Science.gov (United States)

Son, Mia; An, Soo Jeong; Kim, Young Ju

2017-09-01

The relationship between social disparity and specific causes of infant mortality has rarely been studied. The present study analyzed infant mortality trends according to the causes of death and the inequalities in specific causes of infant mortality between different parental social classes. We analyzed 8,209,836 births from the Statistics Korea between 1995 and 2009. The trends of disparity for cause-specific infant mortality according to parental education and employment were examined using the Cox proportional hazard model for the birth-year intervals of 1995-1999, 2000-2004, and 2005-2009. Adjusted hazard ratios were calculated after adjusting for infants' gender, parents' age, maternal obstetrical history, gestational age, and birth weight. An increasing trend in social inequalities in all-cause infant mortality according to paternal education was evident. Social inequalities in infant mortality were greater for "Not classified symptoms, signs and findings" (International Classification of Diseases 10th revision [ICD-10]: R00-R99) and "Injury, poisoning and of external causes" (S00-T98), particularly for "Ill-defined and unspecified causes" (R990) and "Sudden infant death syndrome (SIDS)" (R950); and increased overtime for "Not classified symptoms, signs and findings" (R00-R99), "Injury, poisoning and of external causes" (S00-T98) and "Conditions in perinatal period" (P00-P96), particularly for "SIDS" (R950) and "Respiratory distress syndrome of newborns (RDS)" (P220). The specific causes of infant mortality, in particular the "Not classified causes" (R00-R99 coded deaths) should be investigated more thoroughly to reduce inequality in health. © 2017 The Korean Academy of Medical Sciences.

A Case of Ramsay Hunt Syndrome with Atypical Presentation

Directory of Open Access Journals (Sweden)

Kamil KAYAYURT

2014-09-01

Full Text Available SUMMARY: Ramsay Hunt syndrome is a rare complication of herpes zoster which results from the reactivation of the latent varicella-zoster virus in the geniculate ganglion. Although facial nerve is the most common affected nerve in Ramsay Hunt syndrome, other cranial and cervical nerves can also be affected. We present an atypical case of Ramsay Hunt syndrome in a 42-year-old male, with cervical nerve involvement. As spontaneous recovery rate in Ramsay Hunt syndrome is low, early diagnosis and treatment plays a key role in full recovery of paralysis. ÖZET: Ramsay Hunt sendromu, varisella-zoster virüsün latent olarak kaldığı genikulat ganglionda aktifleşmesiyle oluşan herpes zosterin nadir bir komplikasyonudur. Ramsay Hunt sendromunda fasiyal sinir en sık etkilenen sinir olmasına rağmen diğer kraniyal sinirler ve servikal sinirler de tutulabilir. Bu yazıda, 42 yaşındaki erkek hastada servikal tutulumun da eşlik ettiği atipik bir Ramsay Hunt sedromu olgusu sunuldu. Ramsay Hunt sedromunda spontan iyileşme oranları düşük olduğundan bu hastaların tanılarının erken dönemde konması ve tedavilerinin hemen başlanması paralizinin tam olarak iyileşmesinde kilit role sahiptir. Key words: Facial palsy, Ramsay Hunt syndrome, varicella-zoster virus, Anahtar sözcükler: Fasiyal paralizi, Ramsay Hunt sendromu, varisella-zoster virüs

Familial prune belly syndrome in a Nigerian family.

Science.gov (United States)

Ibadin, Michael Okoeguale; Ademola, Ade Adeyekun; Ofovwe, Gabriel Egberue

2012-03-01

A case of Prune Belly Syndrome in an infant, the second in a middle class family with both parents in their late thirties, is presented because of its rarity. Constraints in the management are discussed and relevant literature reviewed. This is intended to awaken interest and sharpen indices of suspicion that would facilitate early diagnosis, enhance management, and mitigate prejudices.

Optimizing treatment of atopic dermatitis in infants using ursodeoxycholic acid

Directory of Open Access Journals (Sweden)

O.G. Shadrin

2017-04-01

Full Text Available The paper studied the rational for including of ursodeoxycholic acid suspension in complex therapy of atopic dermatitis for infants. The indication of ursodeoxycholic acid suspension for 25 infants with atopic dermatitis resulted in positive clinical dynamics of both dermic and gastrointestinal signs, that manifested as reduction of area of impaired skin, intensity of itch, sleep normalization and regression of pain abdominal syndrome, regurgitation.

Peripheral blood antigen presenting cell responses in otitis-prone and non-otitis-prone infants.

Science.gov (United States)

Surendran, Naveen; Nicolosi, Ted; Kaur, Ravinder; Pichichero, Michael E

2016-01-01

Stringently defined otitis-prone (sOP) children represent a new classification of the otitis-prone condition. Previous studies showed dysfunction in Ab, B-cell memory and T-cell memory responses. We sought to determine whether there are defects in numbers, phenotype and/or function of professional APC in the peripheral blood of sOP infants. APC phenotypic counts, MHC II expression and intracellular cytokine levels were determined in response to TLR7/8 (R848) stimulation by flow cytometry. Innate immune mRNA expression was measured using RT-PCR and cytokines were measured using Luminex technology. Significant (P otitis-prone (NOP) age-matched infants. No significant differences in APC activation or function were observed. Expression of various TLRs, intracellular signaling molecules and downstream cytokines was also not found to be significantly different between sOP and NOP infants. Higher numbers of APCs in sOP infants suggest the possibility of a persistent mucosal inflammatory status. Transcriptional and cytokine profiles of PBMCs among sOP infants suggest their systemic innate responses are not different compared to NOP infants. © The Author(s) 2015.

Fusobacterium necrophorum otitis and mastoiditis in infants and young toddlers.

Science.gov (United States)

Stergiopoulou, T; Walsh, T J

2016-05-01

There is an increased recovery of Fusobacterium necrophorum from cases of otitis media and mastoiditis in the pediatric population. These infections may be highly severe, causing local osteomyelitis, bacteremia, and Lemierre's syndrome. The severity and difficulties in providing optimal treatment for these infections may be especially difficult in this age group due to immunological immaturity and delayed presentation. In this review of literature, we present and analyze the clinical presentation, management, and outcome of otic infections caused by F. necrophorum in infants and young toddlers less than 2 years old. Search in Pubmed was conducted for reported cases in the English literature for the time period of the last 50 years. Twelve well-described cases were retrieved with F. necrophorum otitis and mastoiditis and complications reported in all cases. Treatment included both intravenously with antimicrobial agents (beta lactams plus metronidazole) and mastoidectomy. Lemierre's syndrome and Lemierre's syndrome variants developed in 60 % of the patients. Dissemination of the infection as distal osteomyelitis and septic shock were also reported. The outcome was favorable in all the cases. Otitis and mastoiditis infections in children less then 2 years old are invasive infections, and severe complications can occur.

Posterior Reversible Encephalopathy Syndrome Presenting as Stroke Mimic

Directory of Open Access Journals (Sweden)

Daniel Frick

2017-05-01

Full Text Available We present the case of a 33-year-old male with end stage renal disease presenting to the emergency department (ED with headache, dizziness, and unilateral weakness. Initial concern was for ischemic or hemorrhagic stroke. Magnetic resonance imaging confirmed posterior reversible encephalopathy syndrome (PRES. The patient was treated appropriately and made a full neurologic recovery. PRES is an under-recognized diagnosis in the ED. As a stroke mimic, PRES can lead the clinician on an incorrect diagnostic pathway with potential for iatrogenic harm.

Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.

Science.gov (United States)

Fayol, Laurence; Garcia, Patricia; Denis, Danièle; Philip, Nicole; Simeoni, Umberto

2006-04-01

A female infant presented with Adams-Oliver syndrome (AOS), intrauterine growth retardation, severe cutis marmorata telangiectatica congenita, bilateral congenital cataract, and periventricular lesions. The here-reported association of bilateral congenital cataract with AOS is original. Adams-Oliver syndrome is a genetic defect that causes a vasculopathy and leads to a variety of phenotypes. This observation further supports the current understanding of the physiopathology of AOS.

Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

Directory of Open Access Journals (Sweden)

Marta Zegre Amorim

2015-01-01

Full Text Available A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases.

Dyspnoea in-patient with antiphospholipid syndrome; case Presentation and literature revision

International Nuclear Information System (INIS)

Restrepo, Lucas; Londono, Maria Carlota; Anaya, Juan Manuel

2001-01-01

The antiphospholipid syndrome (AFS) is characterized by vascular thrombosis and/or pregnancy morbidity associated to presence of antiphospholipid antibodies (anticardiolipin and/or lupus anticoagulant), This syndrome may occur alone primary -PAFS-) or in association with systemic lupus erythematosus (secondary -SAFS, Both primary and secondary AFS can be responsible for systemic manifestations other than vascular, among them pulmonary, Here is presented a patient with dyspnoea due to pulmonary hypertension (PHT) and interstitial pulmonary disease (IPD), in whom a diagnostic of SAFS was done, The pulmonary manifestations of the AFS are revised including pulmonary thromboembolism, PHT, IPD, pulmonary hemorrhage, and adult respiratory syndrome with multisystemic failure

Early neonatal deaths associated with perinatal asphyxia in infants ≥2500 g in Brazil,

Directory of Open Access Journals (Sweden)

Maria Fernanda Branco de Almeida

Full Text Available Abstract Objective: To assess the annual burden of early neonatal deaths associated with perinatal asphyxia in infants weighing ≥2500 g in Brazil from 2005 to 2010. Methods: The population study enrolled all live births of infants with birth weight ≥2500 g and without malformations who died up to six days after birth with perinatal asphyxia, defined as intrauterine hypoxia, asphyxia at birth, or meconium aspiration syndrome. The cause of death was written in any field of the death certificate, according to International Classification of Diseases,10th Revision (P20.0, P21.0, and P24.0. An active search was performed in 27 Brazilian federative units. The chi-squared test for trend was applied to analyze early neonatal mortality ratios associated with perinatal asphyxia by study year. Results: A total of 10,675 infants weighing ≥2500 g without malformations died within six days after birth with perinatal asphyxia. Deaths occurred in the first 24 h after birth in 71% of the infants. Meconium aspiration syndrome was reported in 4076 (38% of these deaths. The asphyxia-specific early neonatal mortality ratio decreased from 0.81 in 2005 to 0.65 per 1000 live births in 2010 in Brazil (p < 0.001; the meconium aspiration syndrome-specific early neonatal mortality ratio remained between 0.20 and 0.29 per 1000 live births during the study period. Conclusions: Despite the decreasing rates in Brazil from 2005 to 2010, early neonatal mortality rates associated with perinatal asphyxia in infants in the better spectrum of birth weight and without congenital malformations are still high, and meconium aspiration syndrome plays a major role.

Perioperative considerations in a newly described subtype of congenital long QT syndrome.

Science.gov (United States)

Joseph-Reynolds, Ann; Auden, Steve; Sobczyzk, Walter

1997-05-01

An infant with a newly-described subtype of congenital long QT syndrome is presented, along with her perioperative management on three separate occasions. During each anaesthetic characteristic arrhythmias occurred. The available literature and rational approaches to these high risk patients are reviewed. 1997 Blackwell Science Ltd.

Pattern of Presentation of Multiple Organ Dysfunction Syndrome in ...

African Journals Online (AJOL)

Background: Multiple organ dysfunction syndrome is the sequential failure of several organ systems after a trigger event, like sepsis, massive transfusions, burns, trauma and cardiogenic shock. Aim and Objectives- The pattern of presentation of multiple organ dysfunction and the risk factors associated with multiple organ ...

Ward Round - Late Presentation of Acute Compartment Syndrome in ...

African Journals Online (AJOL)

following the course of ibuprofen mentioned. Twelve days after admission he started to complain of increasing pain and tightness in his left thigh. Sensation and motor function. Ward Round - Late Presentation of Acute. Compartment Syndrome in the Thigh. University of Malawi, College of Medicine, Department of Surgery,.

A Mixed Presentation of Serotonin Syndrome vs Neuroleptic Malignant Syndrome in a 12-Year-Old Boy.

Science.gov (United States)

Sun, Christie; Sweet, Hannah; Minns, Alicia B; Shapiro, Desiree; Jenkins, Willough

2018-04-24

Neuroleptic malignant syndrome (NMS) and serotonin syndrome (SS) are serious medical conditions associated with commonly prescribed psychiatric medications. Although the mechanisms differ, they can be clinically difficult to distinguish. We report a case of a pediatric patient with complicated psychiatric history that developed features of both syndromes in the setting of polypharmacy. A 12-year-old boy with a history of developmental delay, attention-deficit hyperactivity disorder, and posttraumatic stress disorder presented to the emergency department with behavior changes consisting of delayed reactions, gait instability, drooling, and slowed movements. Ten days before presentation, his outpatient psychiatrist had made multiple medication changes including discontinuation of cyproheptadine (an appetite stimulant) and initiation of aripiprazole. On arrival, the patient was noted to be tachycardia and hypertensive for age. He was disoriented, intermittently agitated, and tremulous with increased tonicity, clonus in the lower extremities, and mydriasis. He was supportively treated with lorazepam and intravenous fluids while discontinuing potential offending agents. His course was complicated by hypertension and agitation managed with dexmedetomidine infusion and benzodiazepines. His mental status, tremors, and laboratory values began to improve over the next 2 days, and eventually transitioned to the inpatient psychiatric unit on hospital day 7. Diagnosis of NMS or SS can be difficult when there is overlap between syndromes, particularly in the setting of multiple potential offending agents or underlying developmental delay. In addition, pediatric patients may present atypically as compared with adult patients with the same condition. The use of antipsychotic medications for young children with behavioral problems has risen dramatically in the last decade, increasing their risk for developing SS or NMS.

Cortical heterotopia in Aicardi's syndrome - CT findings

Energy Technology Data Exchange (ETDEWEB)

Besenski, N.; Bosnjak, V.; Ligutic, I.; Marusic-Della Marina, B.

1988-07-01

The case of 5-month-old female infant with Aicardi's syndrome is presented. The main clinical features were severe developmental retardation and intractable epileptic seizures. Ophthalmoscopic examination revealed pathognomonic choriorethinopathy. Ultrasonic examination of the brain detected agenesis of the corpus callosum, whereas CT showed a coexisting malformation of the brain, i.e. cortical heterotopia of the gray matter. Agenesis of the corpus callosum is an entity well-recognized by sonography. However, ultrasonography is an insufficient modality for the visualization of cortical heterotopia which is common to all cases of Aicardi's syndrome. Therefore, in cases of suspected Aicardi's syndrome CT is recommended, as it enables the diagnosis of cortical heterotopia.

Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia

Directory of Open Access Journals (Sweden)

Sung Won Lee

2015-06-01

Full Text Available Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene. All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males. We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation.

Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report

Directory of Open Access Journals (Sweden)

De Salles Antonio AF

2011-09-01

Full Text Available Abstract Introduction Poland syndrome is a congenital disorder related to chest and hand anomalies on one side of the body. Its etiology remains unclear, with an ipsilateral vascular alteration (of unknown origin to the subclavian artery in early embryogenesis being the currently accepted theory. Cavernous malformations are vascular hamartomas, which have been linked to a genetic etiology, particularly in familial cases, which commonly present with multiple lesions. Our case report is the first to describe multiple cavernous malformations associated with Poland syndrome, further supporting the vascular etiology theory, but pointing to a genetic rather than a mechanistic factor disrupting blood flow in the corresponding vessels. Case presentation A 41-year-old Caucasian man with Poland syndrome on the right side of his body presented to our hospital with a secondary generalized seizure and was found to have multiple cavernous malformations distributed in his brain, cerebellum, and brain stem, with a predominance of lesions in the left hemisphere. Conclusion The distribution of cavernous malformations in the left hemisphere and the right-sided Poland syndrome in our patient could not be explained by a mechanistic disruption of one of the subclavian arteries. A genetic alteration, as in familial cavernous malformations, would be a more appropriate etiologic diagnosis of Poland syndrome in our patient. Further genetic and pathological studies of the involved blood vessels in patients with Poland syndrome could lead to a better understanding of the disease.

Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.

Science.gov (United States)

Jaiyeola, P; El-Metwally, D; Viscardi, R; Greene, C; Woo, H

2015-01-01

Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.

Laryngeal carcinoma presenting as polymyositis: A paraneoplastic syndrome

Directory of Open Access Journals (Sweden)

Ritesh Sahu

2016-01-01

Full Text Available Laryngeal carcinoma is rarely associated with paraneoplastic syndrome. Inflammatory myopathy presenting as paraneoplastic event is commonly associated with carcinomas of ovary, lung, pancreas, stomach, colorectal, and non-Hodgkin′s lymphoma. We report a case of elderly male, who presented with proximal muscle weakness and found to be associated with laryngeal carcinoma. Diagnosis of polymyositis (PM was confirmed based on clinical features, laboratory test, and muscle biopsy. Exclusion of other commonly associated malignancies was done. This patient improved gradually after 6 months of immunosuppressive therapy and management of underlying cancer.

Ovarian Hyperstimulation Syndrome Presenting with Polyserositis: A Case Report

Directory of Open Access Journals (Sweden)

Nilay Şengül Samancı

2014-03-01

Full Text Available Ovarian hyperstimulation syndrome (OHSS is an iatrogenic complication of ovulation induction with exogenous gonadotropins. Pleural effusion and abdominal ascites frequently accompany this syndrome. In this paper, we present the case of a 22-year-old female patient who was admitted to our clinic with the complaints of sudden chest pain and dyspnea and was treated with ovulation induction. Exudative pleural effusion and ascites were determined in the patient. Pelvic ultrasonography revealed enlarged ovaries with numerous follicular cysts compatible with ovarian hyperstimulation syndrome (OHSS. Her estradiol level was >5054 pg/ml. The diagnosis of OHSS was established after elimination of other causative factors of polyserositis (pleural effusion and ascites. The disappearance of pleural effusion and ascites spontaneously in a week supported our diagnosis. Herein, we aimed to emphasize that OHSS should be considered in the differential diagnosis of polyserositis in young female patients with a history of ovulation induction history. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 56-9

Gitelman′s syndrome presenting with hypocalcemic tetany and hypokalemic periodic paralysis

Directory of Open Access Journals (Sweden)

Kunal Gandhi

2016-01-01

Full Text Available Gitelman′s syndrome is an autosomal recessive renal tubular disorder characterized by hypomagnesemia, hypokalemia, hypocalciuria, and metabolic alkalosis. Hypocalcemic tetany as a presentation of Gitelman′s syndrome has rarely been reported in literature. We report a rare case of Gitelman′s syndrome presenting with hypocalcemic tetany along with hypokalemic periodic paralysis. A 17-year-old female was admitted to our hospital with a history of perioral numbness and carpal spasms of five days duration with progressive quadriparesis developing over a period of few hours. Past history was significant for three episodes of transient lower limb weakness. On examination, blood pressure was 110/70 mm Hg. Chvostek′s sign and Trousseau′s sign were positive. Neurologically, she was fully oriented. She had Grade 3 power in all the four limbs with intact sensation. Laboratory tests showed hypocalcemia (7.8 mg/dL, hypokalemia (2.2 mEq/L, hypomagnesemia (0.9 mEq/L, and hypocalciuria (104 mg/day. Arterial blood gas showed mild metabolic alkalosis with respiratory compensation. Thus, a clinical diagnosis of GS was made. The patient made a remarkable recovery after the correction of electrolyte imbalance. The aim of this case report is to re-emphasize the fact that hypocalcemia can rarely occur in Gitelman′s syndrome.

Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study

DEFF Research Database (Denmark)

Ekelund, Charlotte K; Jørgensen, Finn Stener; Petersen, Olav Bjørn

2008-01-01

OBJECTIVES: To evaluate the impact of a screening strategy in the first trimester, introduced in Denmark during 2004-6, on the number of infants born with Down's syndrome and the number of chorionic villus samplings and amniocenteses, and to determine detection and false positive rates...... and newborn infants with Down's syndrome diagnosed prenatally and postnatally and number of chorionic villus samplings and amniocenteses carried out. Secondary outcomes measured were number of women screened in 2005 and 2006, screen positive rate, and information on screening in 2005 and 2006 for infants...... with a postnatal diagnosis of Down's syndrome. RESULTS: The number of infants born with Down's syndrome decreased from 55-65 per year during 2000-4 to 31 in 2005 and 32 in 2006. The total number of chorionic villus samplings and amniocenteses carried out decreased from 7524 in 2000 to 3510 in 2006. The detection...

A patient with cystinosis presenting like bartter syndrome and review of literature.

Science.gov (United States)

Ertan, Pelin; Evrengul, Havva; Ozen, Serkan; Emre, Sinan

2012-12-01

Nephropathic cystinosis is an autosomal recessively inherited metabolic disorder presenting with metabolic acidosis, Fanconi syndrome and renal failure. We present a 6-year-old girl with severe growth failure, hyponatremia and hypokalemia. Her parents were 4(th) degree relatives. Two relatives were diagnosed as end stage renal failure. She also had persistant hypokalemic hypochloremic metabolic alkalosis. Her renal function was normal at presentation. She was thought to have Bartter syndrome with supporting findings of elevated levels of renin and aldosterone with normal blood pressure, and hyperplasia of juxtaglomerular apparatus. Her metabolic alkalosis did not resolve despite supportive treatment. At 6(th) month of follow-up proteinuria, glucosuria and deterioration of renal function developed. Diagnosis of cystinosis was made with slit lamp examination and leukocyte cystine levels. At 12(th) month of follow-up her metabolic alkalosis has converted to metabolic acidosis. In children presenting with persistant metabolic alkalosis, with family history of renal failure, and parental consanguinity, cystinosis should always be kept in mind as this disease is an important cause of end stage renal failure which may have features mimmicking Bartter syndrome.

Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

OpenAIRE

Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

2012-01-01

Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

Analysis of the spatial distribution of infant mortality by cause of death in Austria in 1984 to 2006

Directory of Open Access Journals (Sweden)

Heinzl Harald

2008-05-01

Full Text Available Abstract Background In Austria, over the last 20 years infant mortality declined from 11.2 per 1,000 life births (1985 to 4.7 per 1,000 in1997 but remained rather constant since then. In addition to this time trend we already reported a non-random spatial distribution of infant mortality rates in a recent study covering the time period 1984 to 2002. This present study includes four additional years and now covers about 1.9 million individual birth certificates. It aimes to elucidate the observed non-random spatial distribution in more detail. We split up infant mortality into six groups according to the underlying cause of death. The underlying spatial distribution of standardized mortality ratios (SMR is estimated by univariate models as well as by two models incorporating all six groups simultaneously. Results We observe strong correlations between the individual spatial patterns of SMR's except for "Sudden Infant Death Syndrome" and to some extent for "Peripartal Problems". The spatial distribution of SMR's is non-random with an area of decreased risk in the South-East of Austria. The group "Sudden Infant Death Syndrome" clearly and the group "Peripartal Problems" slightly show deviations from the common pattern. When comparing univariate and multivariate SMR estimates we observe that the resulting spatial distributions are very similar. Conclusion We observe different non-random spatial distributions of infant mortality rates when grouped by cause of death. The models applied were based on individual data thereby avoiding ecological regression bias. The estimated spatial distributions do not substantially depend on the employed estimation method. The observed non-random spatial patterns of Austrian infant mortality remain to appear ambiguous.

Idiopathic mitral valve disease in a patient presenting with Axenfeld-Rieger syndrome.

Science.gov (United States)

Antevil, Jared; Umakanthan, Ramanan; Leacche, Marzia; Brewer, Zachary; Solenkova, Natalia; Byrne, John G; Greelish, James P

2009-05-01

A 33-year-old, previously healthy male presented with respiratory distress and underwent intubation. A physical examination revealed a holosystolic murmur and pupillary abnormalities. Echocardiography revealed a flail anterior mitral valve leaflet with ruptured chordae and severe mitral regurgitation. The patient underwent urgent mitral valve replacement and tolerated the procedure well. The mitral valve leaflet was myxomatous and calcified -- an unusual find in such a patient. An ophthalmology consultation was obtained and the patient diagnosed with Axenfeld-Rieger syndrome, a disorder of the anterior ocular chamber that has been associated with cardiac malformations. The present case report adds to the body of literature which suggests a correlation between Axenfeld-Rieger syndrome and valvular abnormalities. Hence, it is believed prudent that patients with Axenfeld-Rieger syndrome should undergo echocardiographic screenings for valvular abnormalities.

Case report: severe asymptomatic hyponatremia in Prader-Willi Syndrome.

Science.gov (United States)

Landau, Daniel; Hirsch, Harry J; Gross-Tsur, Varda

2016-02-18

Prader-Willi syndrome is a complex neurogenetic, multisystem disorder. Despite the variable endocrine abnormalities and hypothalamic-pituitary axis dysfunction, hyponatremia has been reported in only a few PWS patients. In previously reported PWS individuals, hyponatremia was associated with abnormal fluid intake or during desmopressin treatment. We describe an infant with Prader-Willi syndrome who had severe, prolonged asymptomatic hyponatremia without a history of excessive fluid intake or desmopressin treatment. We compare the findings with those of the few other reported cases and describe, for the first time, results of a hypertonic saline infusion test and studies of adrenal cortical function. Hyponatremia should be suspected in children with Prader-Willi syndrome, especially in infants with severe failure to thrive. Further studies are needed to determine the pathophysiology of hyponatremia in this syndrome.

Causes and risk factors for infant mortality in Nunavut, Canada 1999–2011

Directory of Open Access Journals (Sweden)

Collins Sorcha A

2012-12-01

Full Text Available Abstract Background The northern territory Nunavut has Canada’s largest jurisdictional land mass with 33,322 inhabitants, of which 85% self-identify as Inuit. Nunavut has rates of infant mortality, postneonatal mortality and hospitalisation of infants for respiratory infections that greatly exceed those for the rest of Canada. The infant mortality rate in Nunavut is 3 times the national average, and twice that of the neighbouring territory, the Northwest Territories. Nunavut has the largest Inuit population in Canada, a population which has been identified as having high rates of Sudden Infant Death Syndrome (SIDS and infant deaths due to infections. Methods To determine the causes and potential risk factors of infant mortality in Nunavut, we reviewed all infant deaths ( Results Sudden death in infancy (SIDS/SUDI; 48% and infection (21% were the leading causes of infant death, with rates significantly higher than for Canada (2003–2007. Of SIDS/SUDI cases with information on sleep position (n=42 and bed-sharing (n=47, 29 (69% were sleeping non-supine and 33 (70% were bed-sharing. Of those bed-sharing, 23 (70% had two or more additional risk factors present, usually non-supine sleep position. CPT1A P479L homozygosity, which has been previously associated with infant mortality in Alaska Native and British Columbia First Nations populations, was associated with unexpected infant death (SIDS/SUDI, infection throughout Nunavut (OR:3.43, 95% CI:1.30-11.47. Conclusion Unexpected infant deaths comprise the majority of infant deaths in Nunavut. Although the CPT1A P479L variant was associated with unexpected infant death in Nunavut as a whole, the association was less apparent when population stratification was considered. Strategies to promote safe sleep practices and further understand other potential risk factors for infant mortality (P479L variant, respiratory illness are underway with local partners.

A Rare Disorder with Common Clinical Presentation: Neonatal Bartter Syndrome.

Science.gov (United States)

Hussain, Shabbir; Tarar, Saba Haider; Al-Muhaizae, Muhammad

2015-04-01

Bartter syndrome is an autosomal recessive renal tubulopathy that presents with hypokalemic, hypochloremic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninemia and hyperaldosteronemia but normotension. A full term male neonate was referred at 20-day of age with features of sepsis and respiratory distress. He was evaluated and managed as case of septicemia with all supportive paraphernalia including mechanical ventilation. Investigations revealed electrolytes imbalance and metabolic alkalosis suggestive of Neonatal Bartter Syndrome (NBS). Raised aldosterone and renin levels confirmed the diagnosis. Electrolyte imbalance was corrected with fluids and indomethacin, treated successfully, discharged and parents counseled. He was thriving well at 9 months of age. Another 2 months old male baby presented with recurrent episodes of lethargy with dehydration and failure to gain weight. Investigations confirmed the diagnosis of NBS. He was also successfully treated with same medication. We report these 2 cases because of the rarity of NBS, presentation of which may mimic common illnesses like sepsis and gastroenteritis.

Familial prune belly syndrome in a Nigerian family

Directory of Open Access Journals (Sweden)

Michael Okoeguale Ibadin

2012-01-01

Full Text Available A case of Prune Belly Syndrome in an infant, the second in a middle class family with both parents in their late thirties, is presented because of its rarity. Constraints in the manage-ment are discussed and relevant literature reviewed. This is intended to awaken interest and sharpen indices of suspicion that would facilitate early diagnosis, enhance management, and mitigate prejudices.

Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation

Directory of Open Access Journals (Sweden)

Rupesh Kumar

2014-01-01

Full Text Available Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders is the Holt-Oram syndrome, which is characterized by septal defects of the heart and preaxial radial ray abnormalities. Its incidence is one in 100,000 live births. Approximately three out of four patients have some cardiac abnormality with common associations being either an atrial septal defect or ventricular septal defect. Herein, we report a rare sporadic case of Holt-Oram syndrome with atrial septal defect with symptoms of heart failure in a forty-five-year-old lady who underwent emergency cardiac surgery for the symptoms.

Pretibial Located Stewart-Treves Syndrome: Uncommon Presentation in a Bulgarian Patient!

Science.gov (United States)

Tchernev, Georgi; Yungareva, Irina; Mangarov, Hristo; Stavrov, Konstantin; Lozev, Ilia; Temelkova, Ivanka; Chernin, Svetoslav; Pidakev, Ivan; Tronnier, Michael

2018-04-15

The Stewart-Treves syndrome with localisation in the region of the lower extremities is not something unusual as clinical pathology, but the clinical diagnostics is rather difficult, and it can be further complicated maximally because of: the similar locoregional findings in patients with other cutaneous malignancies. Presented is a rare form of an epithelioid variant of the Stewart Treves syndrome in a woman, aged 81, localised in the region of the lower leg and significantly advanced only for 2 months. The diagnosis was confirmed histologically and immunohistochemically. Amputation of the affected extremity was planned. Discussed are important etiopathogenetic aspects regarding the approach in patients with lymphedema and possibility for development of the Stewart Treves syndrome. Analyzing the evidence from the literature worldwide, we concluded that perhaps the only reliable (to some extent) therapeutic option in patients with Stewart Treves Syndrome is 1) the early diagnostics and 2) the following inevitable radical excision or amputation with the maximal field of surgical security in the proximal direction.

Kartagener's syndrome presented with nasal obstruction: A case report

Directory of Open Access Journals (Sweden)

Suna Asilsoy

2014-08-01

Full Text Available The nasal polyposis is a chronic inflammatory process of the nasal mucosa. Although it is rare in children, there may be also association with cystic fibrosis and primary ciliary dyskinesia. About 50% of primary ciliary dyskinesia patients develop situs inversus and it is known as Kartagener's syndrome. The Kartagener's sydrome is a rare autosomal recessive disorder characterized by sinusitis, bronchiectasis, situs inversus. Clinically, patients present to the otolaryngologist with nasal obstruction. We as pediatricians, should consider nasal polyposis as a rare cause of nasal obstruction in children. In the presence of recurrent upper and lower respiratory tract infections accompanying nasal polyposis, Kartagener's syndrome must be kept in mind as a rare reason. [Cukurova Med J 2014; 39(4.000: 942-945

Sirenomelia (mermaid syndrome): an infant from parents who used a special form of snuff.

Science.gov (United States)

Taghavi, M M; Jafari Naveh, H R; Shariati, M; Morteza Zade, F

2009-05-01

We report the first case of a fetus with sirenomelia or mermaid syndrome, whose Afghanian parents were heavy user of a special form of snuff. The case was diagnosed as a mermaid syndrome but some of the features were common to both symmelia dipus and symmelia apus, for example, the single lower extremity had the normal femur, tibia and fibula, but the single foot was rotated medially. The digestive tube ended to a massive closed saclike structure and the anus was absence. The external genital organs were rudiment and the normal testes were undescended. Aorta was divided to branches, such that the external iliac arteries were very small in comparison to the internal iliac arteries. Inferior Vena cava was placed on to the left side of the aorta and unlike the majority of reported mermaid syndrome, the bladder was present. So, the researchers believe that the present case is a rare variant of the mermaid syndrome.

Laugier-Hunziker Syndrome Presenting with Metachronous Melanoacanthomas.

Science.gov (United States)

Zaki, Hattan; Sabharwal, Amarpreet; Kramer, Jill; Aguirre, Alfredo

2018-02-15

Laugier-Hunziker syndrome (LHS, also termed idiopathic lenticular mucocutaneous hyperpigmentation) is an unusual condition characterized by progressive pigmentation of the mucous membranes. LHS displays a benign course and is not associated with malignancy. Here we present a case of LHS with a 7-year follow-up. We document metachronous oral melanoacanthomas in this individual. In addition, we found that the oral melanotic macules in this patient waxed and waned in a cyclical manner. To our knowledge, this is the first report of these findings in the context of LHS. Finally, we provide an overview of other conditions that can present with mucosal hyperpigmentation. It is critical to distinguish LHS from other conditions characterized by mucosal pigmentation in order to facilitate optimal patient care.

Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome

NARCIS (Netherlands)

Delft, van E.; Andriessen, P.; Vaessens, C.N.A.L.; Buijs, J.; Bambang Oetomo, S.

2010-01-01

We present a premature infant with an inability to ventilate spontaneously during sleep periods. In addition, the patient showed general hypotonia. The child had a delayed passage of stool and increased anal muscle tone, indicating Hirschsprung's disease. The combination of these symptoms suggested

Presentation and management of trapped neutrophil syndrome (TNS) in UK Border collies.

Science.gov (United States)

Mason, S L; Jepson, R; Maltman, M; Batchelor, D J

2014-01-01

Three UK bred Border collie puppies were presented for investigation of pyrexia and severe lameness with associated joint swelling. Investigations revealed neutropenia, radiographic findings suggesting metaphyseal osteopathy, and polyarthritis and all dogs were subsequently confirmed with trapped neutrophil syndrome. Clinical improvement was seen after treatment with prednisolone and antibiotics and the dogs all survived to adulthood with a good short- to medium-term outcome. Trapped neutrophil syndrome is an important differential diagnosis for young Border collie dogs in the UK presenting with pyrexia, neutropenia and musculoskeletal signs. © 2013 British Small Animal Veterinary Association.

Rothmund–Thomson syndrome: anaesthesia considerations

African Journals Online (AJOL)

cases of this syndrome have been reported in the scientific literature worldwide. This study ... photosensitivity, poikilodermatous skin changes, juvenile cataracts ... Infants and young children can have gastrointestinal disturbances including ...

Intramedullary spinal cord metastasis from colonic carcinoma presenting as Brown-Sequard syndrome: a case report

LENUS (Irish Health Repository)

Kaballo, Mohammed A

2011-08-02

Abstract Introduction Intramedullary spinal cord metastasis is very rare. The majority are discovered incidentally during autopsy. Most symptomatic patients present with rapidly progressive neurological deficits and require immediate examination. Few patients demonstrate features of Brown-Séquard syndrome. Radiotherapy is the gold-standard of therapy for Intramedullary spinal cord metastasis. The overall prognosis is poor and the mortality rate is very high. We present what is, to the best of our knowledge, the first case of Intramedullary spinal cord metastasis of colorectal carcinoma presenting as Brown-Séquard syndrome. Case presentation We present the case of a 71-year-old Caucasian man with colonic adenocarcinoma who developed Intramedullary spinal cord metastasis and showed features of Brown-Séquard syndrome, which is an uncommon presentation of Intramedullary spinal cord metastasis. Conclusion This patient had an Intramedullary spinal cord metastasis, a rare form of metastatic disease, secondary to colonic carcinoma. The metastasis manifested clinically as Brown-Séquard syndrome, itself a very uncommon condition. This syndrome is rarely caused by intramedullary tumors. This unique case has particular interest in medicine, especially for the specialties of medical, surgical and radiation oncology. We hope that it will add more information to the literature about these entities.

Quantitative Assessment of Microstructural Changes of the Retina in Infants With Congenital Zika Syndrome.

Science.gov (United States)

Aleman, Tomas S; Ventura, Camila V; Cavalcanti, Milena M; Serrano, Leona W; Traband, Anastasia; Nti, Akosua A; Gois, Adriana L; Bravo-Filho, Vasco; Martins, Thayze T; Nichols, Charles W; Maia, Mauricio; Belfort, Rubens

2017-10-01

A better pathophysiologic understanding of the neurodevelopmental abnormalities observed in neonates exposed in utero to Zika virus (ZIKV) is needed to develop treatments. The retina as an extension of the diencephalon accessible to in vivo microcopy with spectral-domain optical coherence tomography (SD-OCT) can provide an insight into the pathophysiology of congenital Zika syndrome (CZS). To quantify the microstructural changes of the retina in CZS and compare these changes with those of cobalamin C (cblC) deficiency, a disease with potential retinal maldevelopment. This case series included 8 infants with CZS and 8 individuals with cblC deficiency. All patients underwent ophthalmologic evaluation at 2 university teaching hospitals and SD-OCT imaging in at least 1 eye. Patients with cblC deficiency were homozygous or compound heterozygotes for mutations in the methylmalonic aciduria and homocystinuria type C (MMACHC) gene. Data were collected from January 1 to March 17, 2016, for patients with CZS and from May 4, 2015, to April 23, 2016, for patients with cblC deficiency. The SD-OCT cross-sections were segmented using automatic segmentation algorithms embedded in the SD-OCT systems. Each retinal layer thickness was measured at critical eccentricities using the position of the signal peaks and troughs on longitudinal reflectivity profiles. Eight infants with CZS (5 girls and 3 boys; age range, 3-5 months) and 8 patients with cblC deficiency (3 girls and 5 boys; age range, 4 months to 15 years) were included in the analysis. All 8 patients with CZS had foveal abnormalities in the analyzed eyes (8 eyes), including discontinuities of the ellipsoid zone, thinning of the central retina with increased backscatter, and severe structural disorganization, with 3 eyes showing macular pseudocolobomas. Pericentral retina with normal lamination showed a thinned (<30% of normal thickness) ganglion cell layer (GCL) that colocalized in 7 of 8 eyes with a normal photoreceptor layer

Guillain-Barré Syndrome as First Presentation of Non-Hodgkin's Lymphoma

Directory of Open Access Journals (Sweden)

Abolhassan Ertiaei

2016-07-01

Full Text Available We present a woman referred with underlying non-Hodgkin's lymphoma (NHL masquerading clinically with Guillain-Barré syndrome (GBS like syndrome. At first evaluation, chest CT-Scan along with brain and whole spine MRI were normal. Electrodiagnostic studies were in favor of acute generalized polyradiculoneuropathy. Laboratory evaluation revealed hypoglycorrhachia. She treated with plasmapheresis after two weeks; she was discharged from hospital, but neurological recovery was not complete. After 6 months, she came back with acute onset of weakness in lower limbs, back pain, fever and urinary incontinence. Pinprick and light touch complete sensory loss was found beneath umbilicus. Thoracic MRI with contrast revealed a dorsal epidural mass extending smoothly from T8 to T12 (10 cm with spinal cord compression. She underwent urgent laminectomy for spinal cord decompression. Histological examination revealed small round cell tumor suggestive of malignant T-cell type lymphoma. In cases with Guillain-Barré syndrome presentation, systemic hematologic disorders such as non-Hodgkin's lymphoma should be considered as one of the differential diagnosis of underlying disease.

The impact of Down syndrome screening on Taiwanese Down syndrome births: a nationwide retrospective study and a screening result from a single medical centre.

Directory of Open Access Journals (Sweden)

Shin-Yu Lin

Full Text Available A retrospective analysis of the Taiwanese National Birth Defect Registration and Notification System was conducted in order to determine the live birth- and stillbirth rates in infants with Down syndrome, trisomy 18, trisomy 13 and Turner syndrome between 2001 and 2010. The objective was to investigate the impact of Down syndrome screening on the Taiwanese Down syndrome live birth rate. In addition, the results of first-trimester Down syndrome screening between 2006 and 2011, and of second-trimester quadruple testing between 2008 and 2011, were obtained from the National Taiwan University Hospital. All Taiwanese infants born between 2001 and 2010 were included in the first part of the analysis, and women receiving first-trimester Down syndrome screening or second-trimester quadruple testing from the National Taiwan University Hospital were included in the second part. The live birth rate of infants with Down syndrome, per 100 000 live births, decreased from 22.28 in 2001 to 7.79 in 2010. The ratio of liveborn DS to total DS was 48.74% in 2001, and then decreased to 25.88% in 2006, when first-trimester screening was widely introduced in Taiwan. This ratio dropped to 20.64% in 2008, when the second-trimester quadruple test was implemented. The overall positive rate in first-trimester screening in the National Taiwan University Hospital was 3.1%, with a Down syndrome detection rate of 100%; the quadruple test had values of 9.0% and 75%, respectively. The use of first-trimester screening and the second-trimester quadruple test may be responsible for the marked decrease in the Taiwanese Down syndrome live birth rate observed between 2001 and 2010.

Skull Base Osteomyelitis from Otitis Media Presenting as the Collet-Sicard Syndrome

Directory of Open Access Journals (Sweden)

Wong-Kein Low

2018-01-01

Full Text Available Skull base osteomyelitis can involve the jugular foramen and its associated cranial nerves resulting in specific clinical syndromes. The Collet-Sicard syndrome describes the clinical manifestations of palsies involving cranial nerves IX, X, XI, and XII. We present a rare atypical case of skull base osteomyelitis originating from infection of the middle ear and causing the Collet-Sicard syndrome. Caused by Pseudomonas aeruginosa and Klebsiella pneumoniae, this occurred in an elderly diabetic man subsequent to retention of a cotton swab in an ear with chronic suppurative otitis media. This case report illustrates the possibility of retained cotton swabs contributing to the development of otitis media, skull base osteomyelitis, and ultimately the Collet-Sicard syndrome in the ears of immune-compromised patients with chronically perforated eardrums.

IINTESTINAL COLIC IN INFANTS: APPROACHES TO THE COMPLEX TREATMENT

Directory of Open Access Journals (Sweden)

Yu. V. Rovenskaya

2013-01-01

Full Text Available The authors describe the causes and mechanisms of development of intestinal colic syndrome in infants and give the approaches to treatment of this condition with modern anti-foaming agents on the base of simethicone. 

Infants in cocktail parties

Science.gov (United States)

Newman, Rochelle S.

2003-04-01

Most work on listeners' ability to separate streams of speech has focused on adults. Yet infants also find themselves in noisy environments. In order to learn from their caregivers' speech in these settings, they must first separate it from background noise such as that from television shows and siblings. Previous work has found that 7.5-month-old infants can separate streams of speech when the target voice is more intense than the distractor voice (Newman and Jusczyk, 1996), when the target voice is known to the infant (Barker and Newman, 2000) or when infants are presented with an audiovisual (rather than auditory-only) signal (Hollich, Jusczyk, and Newman, 2001). Unfortunately, the paradigm in these studies can only be used on infants at least 7.5 months of age, limiting the ability to investigate how stream segregation develops over time. The present work uses a new paradigm to explore younger infants' ability to separate streams of speech. Infants aged 4.5 months heard a female talker repeat either their own name or another infants' name, while several other voices spoke fluently in the background. We present data on infants' ability to recognize their own name in this cocktail party situation. [Work supported by NSF and NICHD.

Fecal microbiota transplantation in metabolic syndrome: History, present and future.

Science.gov (United States)

de Groot, P F; Frissen, M N; de Clercq, N C; Nieuwdorp, M

2017-05-04

The history of fecal microbiota transplantation (FMT) dates back even to ancient China. Recently, scientific studies have been looking into FMT as a promising treatment of various diseases, while in the process teaching us about the interaction between the human host and its resident microbial communities. Current research focuses mainly on Clostridium difficile infections, however interest is rising in other areas such as inflammatory bowel disease (IBD) and the metabolic syndrome. With regard to the latter, the intestinal microbiota might be causally related to the progression of insulin resistance and diabetes. FMT in metabolic syndrome has proven to be an intriguing method to study the role of the gut microbiota and open the way to new therapies by dissecting in whom insulin resistance is driven by microbiota. In this article we review the history of FMT, the present evidence on its role in the pathophysiology of metabolic syndrome and its efficacy, limitations and future prospects.

Infant hearing screening in a developing-country context: Status in ...

African Journals Online (AJOL)

2017-12-14

Dec 14, 2017 ... and infant hearing screening (NIHS) at primary healthcare level (clinic- .... up clinics; KMC = kangaroo mothercare; DSC = Down syndrome clinic; ... of the current reliance on caregiver concern as the primary identifier of.

Severe dysphagia as the presenting symptom of Wernicke-Korsakoff syndrome in a non-alcoholic man.

Science.gov (United States)

Karaiskos, Ilias; Katsarolis, Ioannis; Stefanis, Leonidas

2008-02-01

We present the case of a non-alcoholic man, who, following severe malnutrition, presented with dysphagia that necessitated gastrostomy tube placement. The patient subsequently developed encephalopathy, at which point thiamine deficiency was suspected and thiamine supplementation initiated. The encephalopathy and the dysphagia resolved, but the patient was left with a dense amnestic deficit consistent with Korsakoff syndrome. MRI at the time of the encephalopathy revealed lesions consistent with Wernicke-Korsakoff syndrome. This case represents a remarkable example of Wernicke-Korsakoff syndrome that for a prolonged time period had as its sole manifestation severe dysphagia. To our knowledge, there is only one similar case reported in the literature. This case serves to alert neurologists that isolated dysphagia may be the presenting symptom of this classic neurological syndrome even in the absence of alcoholism.

[Tracheobronchial lavage--a supplementary measure in the initial management of meconium aspiration syndrome].

Science.gov (United States)

Rosegger, H; Engele, H; Haas, J

1987-12-18

Pulmonary lavage - a supplementary measure of resuscitation in newborn infants with severe aspiration of meconium stained amniotic fluid. During 1984-1985 150 mature newborn infants who had aspirated heavily-stained or pea soup-like amniotic fluid were resuscitated at the University Hospital of Obstetrics and Gynaecology in Graz. In 109 of these infants (controls) routine aspiration of both the upper and lower airways was accomplished as soon as possible, whilst in the remaining 41 infants (lavaged) pulmonary lavage with saline was additionally performed via an endotracheal tube after aspiration to clear the trachea and the upper bronchi from thick meconium which could not have been removed as efficiently otherwise. The incidence of manifest meconium aspiration syndrome was significantly higher (22%) in the lavaged infants than in the controls (8%). Mechanical ventilation was performed in 36% of the lavaged infants, whereas only 5.5% of the controls had to be ventilated for more than 1 hour. The mean duration of ventilation, however, was shorter (Mh = 5.1 hrs vs Mh = 69 hrs) and the average age at discharge lower in the lavaged. Three infants died, two of whom had severe malformations. Only one death in the lavaged infants was attributable to severe meconium aspiration syndrome already manifest at birth. Three infants (two lavaged, one control) showed radiological evidence of pneumothorax, but without clinical appearance of respiratory distress. Since the lavaged group naturally contained the more severely distressed infants, with a high incidence of caesarean section on account of intrauterine asphyxia and lower Apgar scores at one and five minutes, the high incidence of radiologically confirmed meconium aspiration syndrome was not surprising.(ABSTRACT TRUNCATED AT 250 WORDS)

Desempenho motor e sensorial de lactentes com e sem síndrome de Down: estudo piloto Motor and sensory performance of infants with and without Down syndrome: a pilot study

Directory of Open Access Journals (Sweden)

Ana Carolina de Campos

2010-09-01

Full Text Available O estudo visou avaliar o desempenho motor e sensorial de lactentes com e sem síndrome de Down (SD aos seis meses de vida. Foram avaliados oito lactentes, sendo quatro com SD e quatro típicos, com 24 semanas de vida. Para verificar o desempenho motor foi utilizada a escala motora infantil de Alberta (AIMS, nas posturas supina, prona, sentada e em pé. O desempenho sensorial foi avaliado por meio de entrevista com o cuidador da criança utilizando o perfil sensorial infantil ITSP (infant/toddler sensory profile, que classifica comportamentos sensoriais como de"baixo registro" (dificuldade em registrar estímulos sensoriais, busca de estímulos, excessiva sensibilidade a estímulos e comportamentos de evitar estímulos. Os resultados no ITSP mostram que os lactentes com SD obtiveram piores escores em baixo registro, possivelmente por apresentarem altos limiares neurológicos, demorando mais para responder aos estímulos. Na AIMS os lactentes com SD tiveram um desempenho inferior quando comparados aos típicos na subescala prono, o que pode advir de dificuldades no controle postural e antigravitacional. Não foi encontrada correlação entre os escores do ITSP e da AIMS. Os resultados sugerem que os lactentes com SD podem se engajar com menos freqüência em atividades de interação com o ambiente, tanto por dificuldade em registrar estímulos cotidianos (como diferentes sons e pessoas, quanto por dificuldade em explorar o meio utilizando habilidades motoras.The study aimed at assessing motor and sensory performance of infants with Down syndrome (DS comparing them to typical infants at the age of six months. Eight infants - 4 with typical development, 4 with DS - were assessed as to motor performance by the Alberta infant motor scale (AIMS at supine, prone, sitting, and standing positions. Sensory performance was assessed by using the Infant/toddler sensory profile (ITSP, which classifies sensorial behaviours as"low registration" (difficulty in

Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report.

Science.gov (United States)

Abidi, Kamel; Jellouli, Manel; Ben Rabeh, Rania; Hammi, Yousra; Gargah, Tahar

2015-01-01

Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia. We report a case with Williams-Beuren syndrome associated with a single kidney and nephrocalcinosis complicated by hypercalcaemia. A male infant, aged 20 months presented growth retardation associated with a psychomotor impairment, dysmorphic features and nephrocalcinosis. He had also hypercalciuria and hypercalcemia. Echocardiography was normal. DMSA renal scintigraphy showed a single functioning kidney. The FISH generated one ELN signal in 20 metaphases read and found the presence of ELN deletion, with compatible Williams-Beuren syndrome.

Hemorrhagic shock and encephalopathy syndrome: a case report

International Nuclear Information System (INIS)

Yoon, Sook Ja; Choi, Yun Sun; Shin, Chung Ho; Cho, Sung Bum; Cho, Jae Min; Kim, Hyun Sook; Han, Tae Il; Yoon, Yong Kyu

2001-01-01

Hemorrhagic shock and encephalopathy syndrome (HSES) is a sudden-onset symptom complex that involves multisystem failure and includes encephalopathy, shock, coma, convulsions, prerenal azotemia, hepatic dysfunction, and bleeding coagulopathy and progressive thrombocytopenia in previously healthy infants and children. Its radiologic findings have rarely been reported, and it has not been described in Korea. We present a case of clinically diagnosed HSES, and include the CT and MRI findings

PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population

NARCIS (Netherlands)

G. Liebrechts-Akkerman (Germaine); F. Liu (Fan); O. Lao Grueso (Oscar); A.H.A.G. Ooms (Ariadne ); K. van Duijn (Kate); M. Vermeulen (Mark); V.W.V. Jaddoe (Vincent); A. Hofman (Albert); A.C. Engelberts (Adele); M.H. Kayser (Manfred)

2014-01-01

textabstractUnclassified sudden infant death (USID) is the sudden and unexpected death of an infant that remains unexplained after thorough case investigation including performance of a complete autopsy and review of the circumstances of death and the clinical history. When the infant is below 1

Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome

Directory of Open Access Journals (Sweden)

Gianluigi Ardissino

2017-01-01

Full Text Available Hemolytic uremic syndrome (HUS is an unrare and severe thrombotic microangiopathy (TMA caused by several pathogenetic mechanisms among which Shiga toxin-producing Escherichia coli infections and complement dysregulation are the most common. However, very rarely and particularly in neonates and infants, disorders of cobalamin metabolism (CblC can present with or be complicated by TMA. Herein we describe a case of atypical HUS (aHUS related to CblC disease which first presented in a previously healthy boy at age of 13.6 years. The clinical picture was initially dominated by nephrotic range proteinuria and severe hypertension followed by renal failure. The specific treatment with high dose of hydroxycobalamin rapidly obtained the remission of TMA and the complete recovery of renal function. We conclude that plasma homocysteine and methionine determinations together with urine organic acid analysis should be included in the diagnostic work-up of any patient with TMA and/or nephrotic syndrome regardless of age.

Refeeding syndrome in very-low-birth-weight intrauterine growth-restricted neonates.

Science.gov (United States)

Ross, J R; Finch, C; Ebeling, M; Taylor, S N

2013-09-01

Determine the incidence of refeeding syndrome, defined by the presence of hypophosphatemia in very-low-birth-weight (VLBW) infants with intrauterine growth restriction (IUGR) compared with those without IUGR. In this retrospective cohort study, VLBW infants admitted over a 10-year period (271 IUGR and 1982 non-IUGR) were evaluated for specific electrolyte abnormalities in the first postnatal week. IUGR infants were significantly more likely to have hypophosphatemia (41% vs 8.9%, relative risk (95% confidence interval: 7.25 (5.45, 9.65)) and severe hypophosphatemia (11.4% vs 1%, 12.06 (6.82, 21.33)) in the first postnatal week. The incidence of hypophosphatemia was significantly associated with the presence of maternal preeclampsia in all VLBW infants (odds ratio (OR): 2.58 (1.96, 3.40)) when controlling for birth weight and gestational age. Refeeding syndrome occurs in VLBW infants with IUGR and born to mothers with preeclampsia. Close monitoring of electrolytes, especially phosphorus, is warranted in this population.

Associations among Adult Attachment Presentations, Maternal Sensitivity, and Infant-Mother Attachment in a Sample of Adolescent Mothers.

Science.gov (United States)

Ward, Mary J.; Carlson, Elizabeth A.

1995-01-01

Associations among adolescent attachment organization, maternal sensitivity, and infant attachment organization were examined prospectively in 72 teenaged mother-infant dyads. Pregnant teenagers' attachment organizations predicted both sensitivity and infant-mother attachments. Associations between maternal sensitivity and infant attachment were…

Up Front, in Hope: The Value of Early Intervention for Children with Fetal Alcohol Syndrome.

Science.gov (United States)

Harwood, Maureen; Kleinfeld, Judith Smilg

2002-01-01

Differentiates fetal alcohol syndrome (FAS) from fetal alcohol effects (FAE) and discusses difficulties in diagnosing these conditions. Describes the effects of FAS/FAE on young children, detailing impact on sensory processing, focusing attention, and cognitive development in infants, toddlers, and preschoolers. Presents suggestions for caregivers…

The Effects of Massage with Coconut and Sunflower Oils on Oxygen Saturation of Premature Infants with Respiratory Distress Syndrome Treated With Nasal Continuous Positive Airway Pressure

Directory of Open Access Journals (Sweden)

Sousan Valizadeh

2012-11-01

Full Text Available Introduction: Nowadays particular emphasis is placed on the developmental aspects of premature infants care. Massage therapy is one of the best-known methods of caring. Due to the minimal touch policy in neonatal intensive care units (NICUs, massaging is not usually performed on premature infants. However, there is not sufficient evidence to support the claim that newborn infants with complex medical conditions should not be massaged. This study aimed to determine the effects of massage with coconut and sunflower oils on oxygen saturation of infants with respiratory distress syndrome (RDS treated with nasal continuous positive airway pressure (NCPAP. Methods: This was a randomized controlled trial on 90 newborns who were admitted to Alzahra Hospital (Tabriz, Iran. The infants were divided into control and massage therapy groups (massage with coconut and sunflower oils. Data was collected using a hospital documentation form. A 15-minute daily massage was performed for 3 days. Respiratory rate (RR, fraction of inspired oxygen (FiO2 and oxygen saturation were measured 5 minutes before the massage, 3 times during the massage, and 5 minutes after the massage. The collected data was analyzed using a mixed model. Results: In comparison to coconut oil and control groups, mean oxygen saturation of sunflower oil group was improved. In addition, the coconut massage group showed lower oxygen saturation than the control group but was all values were within the normal range. Although massage decreased oxygen saturation, there was no need to increase FiO2. Conclusion: Massage therapy can provide developmental care for infants treated with NCPAP.

Autoimmune Progesterone Dermatitis Presenting as Stevens-Johnson Syndrome.

Science.gov (United States)

Drayer, Sara M; Laufer, Larry R; Farrell, Maureen E

2017-10-01

Autoimmune progesterone dermatitis is an uncommon disease presenting with cyclical skin eruptions corresponding with the menstrual cycle luteal phase. Because symptoms are precipitated by rising progesterone levels, treatment relies on hormone suppression. A 22-year-old nulligravid woman presented with symptoms mistaken for Stevens-Johnson syndrome. A cyclic recurrence of her symptoms was noted, and the diagnosis of autoimmune progesterone dermatitis was made by an intradermal progesterone challenge. After 48 months, she remained refractory to medical management and definitive surgical treatment with bilateral oophorectomy was performed. Autoimmune progesterone dermatitis is a challenging diagnosis owing to its rarity and variety of clinical presentations. Treatment centers on suppression of endogenous progesterone and avoidance of exogenous triggers. When these modalities fail, surgical management must be undertaken.

Clinical Observation of a Child with KID (Keratitis-Ichthyosis-Deafness Syndrome

Directory of Open Access Journals (Sweden)

V.A. Klymenko

2015-09-01

Full Text Available A clinical case of keratitis-ichthyosis-deafness (KID syndrome in an infant is described. The article familia-rizes pediatricians and family doctors with difficulties in the diagnosis of this rare genetic disease in infants.

[Acute anterior myocardial infarction as presenting feature of antiphospholipid syndrome related lupus arthritis].

Science.gov (United States)

Capilla-Geay, E; Poyet, R; Brocq, F X; Pons, F; Kerebel, S; Foucault, G; Jego, C; Cellarier, G R

2016-05-01

Antiphospholipid syndrome is an autoimmune disorder causing venous and arterial thrombosis. Acute coronary complications are rare but potentially dramatic. We report a 39-year-old woman who presented with an acute anterior myocardial infarction after intravenous corticosteroids as part of the treatment of lupus arthritis and revealing antiphospholipid syndrome. Emergency coronary angiography was performed with drug-eluting stent angioplasty despite the need for anticoagulation and dual antiplatelet therapy. Antiplatelet and anticoagulant therapy management is pivotal in patients with antiphospholipid syndrome and acute coronary syndrome to prevent thrombosis recurrence. Copyright © 2015 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome.

Science.gov (United States)

Somaschini, Marco; Presi, Silvia; Ferrari, Maurizio; Vergani, Barbara; Carrera, Paola

2017-12-19

Genetic surfactant dysfunction causes respiratory failure in term and near-term newborn infants, but little is known of such condition in prematures. We evaluated genetic surfactant dysfunction in premature newborn infants with severe RDS. A total of 68 preterm newborn infants with gestational age ≤32 weeks affected by unusually severe RDS were analysed for mutations in SFTPB, SFTPC and ABCA3. Therapies included oxygen supplementation, nasal CPAP, different modalities of ventilatory support, administration of exogenous surfactant, inhaled nitric oxide and steroids. Molecular analyses were performed on genomic DNA extracted from peripheral blood and Sanger sequencing of whole gene coding regions and intron junctions. In one case histology and electron microscopy on lung tissue was performed. Heterozygous previously described rare or novel variants in surfactant proteins genes ABCA3, SFTPB and SFTPC were identified in 24 newborn infants. In total, 11 infants died at age of 2 to 6 months. Ultrastructural analysis of lung tissue of one infant showed features suggesting ABCA3 dysfunction. Rare or novel genetic variants in genes encoding surfactant proteins were identified in a large proportion (35%) of premature newborn infants with particularly severe RDS. We speculate that interaction of developmental immaturity of surfactant production in association with abnormalities of surfactant metabolism of genetic origin may have a synergic worsening phenotypic effect.

Predictive information processing is a fundamental learning mechanism present in early development: evidence from infants.

Science.gov (United States)

Trainor, Laurel J

2012-02-01

Evidence is presented that predictive coding is fundamental to brain function and present in early infancy. Indeed, mismatch responses to unexpected auditory stimuli are among the earliest robust cortical event-related potential responses, and have been measured in young infants in response to many types of deviation, including in pitch, timing, and melodic pattern. Furthermore, mismatch responses change quickly with specific experience, suggesting that predictive coding reflects a powerful, early-developing learning mechanism. Copyright © 2011 Elsevier B.V. All rights reserved.

Incidência da síndrome da morte súbita em coorte de lactentes The incidence of sudden death syndrome in a cohort of infants

Directory of Open Access Journals (Sweden)

Lorena T. C. Geib

2006-02-01

Full Text Available OBJETIVOS: Quantificar a incidência de síndrome da morte súbita do lactente no município de Passo Fundo (RS e descrever o perfil dos óbitos. MÉTODOS: Coorte de base populacional, de nascidos vivos no período de fevereiro de 2003 a janeiro de 2004, domiciliados na zona urbana. Excluíram-se lactentes hospitalizados desde o nascimento, crianças em processo de adoção e óbitos ocorridos antes da coleta de dados. Dos 2.634 nascidos vivos, foram incluídas 2.411 crianças, acompanhando-se 2.285 (94,8%. Os dados foram coletados no Sistema de Informações sobre Nascidos Vivos, declarações de óbito, registros do comitê de mortalidade infantil e mediante entrevistas domiciliares com a mãe social. Os instrumentos foram adaptados de formulários validados previamente. Os dados foram analisados no Epi-Info, com estatística descritiva. RESULTADOS: Foram registrados 10 óbitos (0,4%. Quatro de causa indeterminada puderam ser incluídos na categoria III de síndrome da morte súbita do lactente. Ocorreram entre os 2 e 5 meses, no domicílio, em crianças que dormiam na posição lateral, em cama com adultos, utilizando colchão macio, travesseiro e fralda sobre a face. Eram filhos de mãe jovens, fumantes, pré-natal incompleto, multíparas e de classes econômicas desfavorecidas. A incidência de suspeita dessa síndrome foi de 1,75/1.000. CONCLUSÃO: A taxa de incidência de suspeita de síndrome da morte súbita do lactente em Passo Fundo é compatível com os maiores coeficientes internacionais, sugerindo medidas de vigilância e prevenção de riscos.OBJECTIVES: To quantify the incidence of sudden infant death syndrome in the town of Passo Fundo, in Rio Grande do Sul, Brazil, and to describe the profile of the deaths observed. METHODS: A population-based cohort study of the live births from February 2003 to January 2004 to parents resident in the urban area. Infants were excluded if they had been hospitalized since birth, were in the

Resolution of spatial and temporal visual attention in infants with fragile X syndrome

OpenAIRE

Farzin, Faraz; Rivera, Susan M.; Whitney, David

2011-01-01

Fragile X syndrome is the most common cause of inherited intellectual impairment and the most common single-gene cause of autism. Individuals with fragile X syndrome present with a neurobehavioural phenotype that includes selective deficits in spatiotemporal visual perception associated with neural processing in frontal–parietal networks of the brain. The goal of the current study was to examine whether reduced resolution of spatial and/or temporal visual attention may underlie perceptual def...

Primary Sjogren’s Syndrome Presenting as Acute Interstitial Pneumonitis/Hamman-Rich Syndrome

Directory of Open Access Journals (Sweden)

Abidullah Khan

2016-01-01

Full Text Available A previously well, 45-year-old Pakistani lady was admitted to the medical unit on-call of Khyber Teaching Hospital (KTH Peshawar with a 5-day history of fever, productive cough with copious mucoid sputum, dyspnea, and pleuritic chest pain. She also complained of dry eyes, mouth, and vagina. Her chest X-ray showed diffuse alveolar shadowing and arterial gas analysis confirmed type 1 respiratory failure. Over the next few days, she deteriorated rapidly making an urgent transfer to the medical intensive care unit (MICU necessary, where she was mechanically ventilated. An HRCT followed by bronchoscopic biopsies made a diagnosis of acute interstitial pneumonitis (AIP, formerly known as Hamman-Rich syndrome. She also turned out to be positive for both anti-SS-A/Ro and anti-SS-B/La antibodies along with a positive Schirmer’s test and lower lip biopsy. She received intravenous steroids and supportive care. The patient had a complete recovery after approximately three weeks’ stay in the hospital with lung function returning back to normal. This is most probably the first ever case of primary Sjogren syndrome (pSjS presenting as AIP, recovering completely in less than a month time.

Duane Syndrome. Presentation of a case.

Directory of Open Access Journals (Sweden)

Pedra Palmero Aragón

2010-04-01

Full Text Available It was carried out an observational descriptive prospective longitudinal study including the period from march 2008 till june 20, 2008 in the Ophthalmology Service of the Provincial Educational Pediatric Hospital: “José Martí Pérez” in Sancti Spiritus, with the objective to identify the clinical and epidemiological characteristics of a patient with Duane Syndrome who went to consultation without receiving previous ophthalmological attention, the diagnosis age was determined, which was tardy, bracket the most affected eye and the kind of Duane, and also if there was any refractive defect and the presence of amblyopia , identifying the criteria for being operated, for collecting data a format was completed by the specialists, which included observation, interrogatory, ophthalmological medical record of the ill person and pictures, these elements allowed us to make a correct analysis. With the previous information we arrived as a conclusion that is all about a patient with 28 years of age who lives in Sancti Spiritus Municipality, with White skin, male, carried on the Duane Syndrome type I, unilateral left. A light Hypermetropia was presented in both eyes as a refractive defect, accompanied by a light bilateral amplyopia in the right eye and moderate in the left eye. It is necessary to stay that the patient was under surgical criterium by esotropia of more than 15 degrees in PPM and unacceptable torticollis although the time of evolution; there were no difficulties related to the surgical act. The postoperative picture can reflect the result of the surgery.

Aneurysmal sub-arachnoid haemorrhage in patients with Noonan syndrome: a report of two cases and review of neurovascular presentations in this syndrome

International Nuclear Information System (INIS)

Dineen, R.A.; Lenthall, R.K.

2004-01-01

To date, intracranial aneurysms have been reported in two patients with Noonan syndrome. We report two unrelated patients with Noonan syndrome who presented with sub-arachnoid haemorrhage secondary to intracranial aneurysms. These cases are discussed and other cerebrovascular abnormalities that have been described in association with Noonan syndrome are reviewed. Ultrastructural and genetic factors contributing to these associations are considered. (orig.)

Aneurysmal sub-arachnoid haemorrhage in patients with Noonan syndrome: a report of two cases and review of neurovascular presentations in this syndrome

Energy Technology Data Exchange (ETDEWEB)

Dineen, R.A.; Lenthall, R.K. [Department of Radiology, University Hospital, Queen' s Medical Centre, NG7 2UH, Nottingham (United Kingdom)

2004-04-01

To date, intracranial aneurysms have been reported in two patients with Noonan syndrome. We report two unrelated patients with Noonan syndrome who presented with sub-arachnoid haemorrhage secondary to intracranial aneurysms. These cases are discussed and other cerebrovascular abnormalities that have been described in association with Noonan syndrome are reviewed. Ultrastructural and genetic factors contributing to these associations are considered. (orig.)

An infant with poor weight gain and hypochloremic metabolic alkalosis: a case report

Directory of Open Access Journals (Sweden)

Alhammadi AH

2014-07-01

Full Text Available Ahmed H Alhammadi, Mohamed Khalifa, Lolwa Alnaimi Department of Pediatrics, Division of General Pediatrics, Hamad Medical Corporation, Doha, Qatar Abstract: Bartter syndrome is an autosomal recessive disease manifested by a defect in chloride transport in the thick loop of Henle, with different genetic origins and molecular pathophysiology. Children with Bartter syndrome generally present in early infancy with persistent polyuria and associated dehydration, electrolyte imbalance, and failure to thrive. Although early diagnosis and appropriate treatment of Bartter syndrome may improve the outcome, some children will progress to renal failure. We report a case of an 8-week-old infant who was admitted for electrolyte imbalance and failure to thrive. Laboratory studies revealed hypochloremic metabolic alkalosis with severe hypokalemia. Health care providers should consider Bartter syndrome when excessive chloride losses appear to be renal in origin and the patient has normal blood pressure and high levels of serum renin and aldosterone. Treatments, including indomethacin, spironolactone, and aggressive fluid and electrolyte replacement, may prevent renal failure in children with Bartter syndrome. Molecular genetics studies are indicated to identify the primary genetic defect. Keywords: Bartter syndrome, failure to thrive, metabolic alkalosis 

The naturally occurring α-tocopherol stereoisomer RRR-α-tocopherol is predominant in the human infant brain

DEFF Research Database (Denmark)

Kuchan, J M; Jensen, Søren Krogh; Johnson, E J

2016-01-01

α-Tocopherol is the principal source of vitamin E, an essential nutrient that plays a crucial role in maintaining healthy brain function. Infant formula is routinely supplemented with synthetic α-tocopherol, a racaemic mixture of eight stereoisomers with less bioactivity than the natural...... stereoisomer RRR-α-tocopherol. α-Tocopherol stereoisomer profiles have not been previously reported in the human brain. In the present study, we analysed total α-tocopherol and α-tocopherol stereoisomers in the frontal cortex (FC), hippocampus (HPC) and visual cortex (VC) of infants (n 36) who died of sudden...... infant death syndrome or other conditions. RRR-α-tocopherol was the predominant stereoisomer in all brain regions (Ptocopherol (5–17 μg/g). Mean RRR-α-tocopherol concentrations in FC, HPC and VC were 10·5, 6·8 and 5·5 μg...

Congenital piriform fossa sinus tract presenting as an asymptomatic neck mass in an infant

International Nuclear Information System (INIS)

Bloom, David A.; Adler, Brent H.; Forsythe, Robert C.; Mutabagani, Khaled; Teich, Steven

2003-01-01

A 5-month-old girl with an asymptomatic left-sided neck mass was demonstrated by ultrasound and upper gastrointestinal series (UGI), and confirmed at surgery, to have a congenital piriform fossa sinus tract (CPFST) that communicated with an intrathyroidal cyst. To demonstrate a case of CPFST presenting as an asymptomatic neck mass. Nearly all cases of CPFST present with infection or pain, making this case unique. Case report and review of the literature. CPFST with an associated cyst should be added to the differential diagnosis of asymptomatic cystic neck masses in infants, especially if the cyst is intrathyroidal by ultrasound. (orig.)

The status of newborn infants born to women with hypertensive disorders

Directory of Open Access Journals (Sweden)

N. A. Shakhbazova

2014-01-01

Full Text Available The status of 239 newborn infants born to mothers with hypertensive syndrome (a study group and that of 51 neonates from healthy mothers (a control group were analyzed. Neonatal mortality and morbidity rates were studied in relation to gestational age and the type and severity of hypertensive disorders. Hypertensive disorders in pregnancy were found to lead to still birth in 2,1% of cases, late miscarriage in 12,1%, prematurity in 47,7%, and intrauterine growth retardation in 27,6%. The incidence of diseases in the infants born to hypertensive mothers was 6,6 times higher than that in those from healthy mothers. The most common nosological entities among the newborn infants were intracranial hemorrhage (29,3%, respiratory distress syndrome (20,1%, hypoxic-ischemic brain damage (22,6%, polycythemia (8,4%, and hyperbihrubinemia (8,8%. Reproductive losses in hypertensive disorders accounted for 17,2% and occurred in 70,7% of cases in the early postnatal period. Severe pathology and prematurity are responsible for high neonatal morbidity and mortality rates.

Adrenocortical oncocytic neoplasm presenting with Cushing's syndrome: a case report

Directory of Open Access Journals (Sweden)

Kabayegit Ozlem

2008-07-01

Full Text Available Abstract Introduction Oncocytic neoplasms occur in several organs and are most commonly found in the thyroid, kidneys and salivary glands. Oncocytic neoplasms of the adrenal cortex are extremely rare and are usually non-functioning. Case presentation We report the case of an adrenocortical oncocytic neoplasm with uncertain malignant potential in a 31-year-old man with Cushing's syndrome. The patient had been operated on following diagnosis of a 7 cm adrenal mass. Following surgery, the Cushing's syndrome resolved. The patient is still alive with no metastases one year after the surgery. Conclusion Adrenocortical oncocytic neoplasms must be considered in the differential diagnosis of both functioning and non-functioning adrenal masses.

Cerebellar Cognitive Affective Syndrome Presented as Severe Borderline Personality Disorder

Directory of Open Access Journals (Sweden)

Danilo Pesic

2014-01-01

Full Text Available An increasing number of findings confirm the significance of cerebellum in affecting regulation and early learning. Most consistent findings refer to association of congenital vermis anomalies with deficits in nonmotor functions of cerebellum. In this paper we presented a young woman who was treated since sixteen years of age for polysubstance abuse, affective instability, and self-harming who was later diagnosed with borderline personality disorder. Since the neurological and neuropsychological reports pointed to signs of cerebellar dysfunction and dysexecutive syndrome, we performed magnetic resonance imaging of brain which demonstrated partially developed vermis and rhombencephalosynapsis. These findings match the description of cerebellar cognitive affective syndrome and show an overlap with clinical manifestations of borderline personality disorder.

NEONATAL MORBIDITY AND EARLY OUTCOME OF VERY PRETERM INFANTS

Directory of Open Access Journals (Sweden)

Heljić Suada

2013-01-01

Full Text Available Background: Although the mortality rate for preterm infants and the gestational age-specific mortality rate have dramatically improved over the last 3 to 4 decades, infants born preterm remain vulnerable to many complications, including respiratory distress syndrome, chronic lung disease, necrotizing enterocolitis, a compromised immune system, cardiovascular disorders, hearing and vision problems, and brain lesions.The aim is to determine mortality and morbidity rates and selected outcome variables for preterm infant’s < 30 weeks’ gestation, who were admitted to the NICU. Patients and methods: This study enrolled 102 infants with gestational age less than 30 weeks’ gestation, hospitalized in Neonatal Intensive Care Unit, Pediatric Hospital, Clinical University Center Sarajevo, from Jan. 2010 to Dec. 2010. Parameters taken at admission were: birth weight, gestational age, Apgar score, excess base and CRIB score. Early outcome is considered as a survival at discharge or common preterm morbidities presented during hospitalizationResults: The mean BW of evaluated preterm infants was 1086 ± 250 g, the mean GA27.89 ± 1.97, Apgar score 5.41 ± 1.76, excess base at admission 6.39 ± 1.74 and mean CRIB score 3.72 ± 3.16. The overall survival rate was 70.5%. Selected outcomes at discharge were: RDS with 70.5% infants treated with natural surfactant, PDA treated with NSAIDS (23.5%, brain injury ( ≥ grade 3 IVH or PVL 16.6%, NEC Bell stages II or III 9.8%, BPD 25/72 (33.3% of infants who survived to 36 weeks postmenstrual age. In 38 (37.2% infants, episodes of infections were noticed (one or more episodes in 25 infants, half of them were caused by Gram positive bacteria, most frequent coagulasa negative staphylococci. Klebsiella pneumoniae was the mostfrequent organism among Gram negative bacteria. One patient had invasive candidiasis caused by Candida albicans. In 5 infants (4.9% early onset of sepsis was documented. Conclusion: Very preterm

Optimizing the Treatment of Atopic Dermatitis in Infants Using Ursodeoxycholic Acid

Directory of Open Access Journals (Sweden)

O.H. Shadrin

2016-08-01

Full Text Available We have determined the advisability of including a suspension of ursodeoxycholic acid into the treatment of atopic dermatitis in infants. It is proved that taking a suspension of ursodeoxycholic acid in 25 infants with atopic dermatitis leads to a positive clinical dynamics of both skin and gastrointestinal manifestations that resulted in a decrease in the area of skin lesions, intensity of itching, sleep normalization and regression of abdominal pain syndrome, possetings.

Optimizing the Treatment of Atopic Dermatitis in Infants Using Ursodeoxycholic Acid

Directory of Open Access Journals (Sweden)

O.H. Shadrin

2016-09-01

Full Text Available Expediency of including the suspension of ursodeoxycholic acid into the combination therapy of atopic dermatitis in infants was investigated. It is proved that administration of the suspension of ursodeoxycholic acid in 25 infants with atopic results has caused a positive clinical dynamics of both dermic and gastrointestinal symptoms that manifested by a reduction in the area of skin lesion, intensity of itching, normalization of dream and regression of pain abdominal syndrome, vomiting.

Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome.

Science.gov (United States)

Lee, Mi Ji; Kim, Byung Young; Ma, Jae Sook; Choi, Young Earl; Kim, Young Ok; Cho, Hwa Jin; Kim, Chan Jong

2016-11-01

Noonan syndrome is an autosomal dominant, multisystem disorder. Autoimmune thyroiditis with hypothyroidism is an infrequent feature in patients with Noonan syndrome. A 16-year-old boy was admitted because of chest discomfort and dyspnea; an echocardiogram revealed pericardial effusion. Additional investigations led to a diagnosis of severe hypothyroidism due to Hashimoto thyroiditis. The patient was treated with L-thyroxine at 0.15 mg daily. However, during admission, he developed symptoms of cardiac tamponade. Closed pericardiostomy was performed, after which the patient's chest discomfort improved, and his vital signs stabilized. Herein, we report a case of an adolescent with Noonan syndrome, who was diagnosed with Hashimoto thyroiditis with an unusual presentation of cardiac tamponade.

A favorable outcome following 32 vesicocentesis and amnioinfusion procedures in a fetus with severe prune belly syndrome.

Science.gov (United States)

Galati, Vincenzo; Beeson, James H; Confer, Stephen D; Frimberger, Dominic; Campbell, Jeffrey B; Ramji, Faridali G; Kropp, Bradley P

2008-04-01

Patients with severe prune belly syndrome rarely survive beyond the first days of life. We present a case of prune belly syndrome that initially presented with severe oligohydramnios, megacystis and associated poor urine biochemistries. Due to an anteriorly located placenta the patient was referred to three major centers, but was turned down because of the unfavorable prognostic findings. Therefore, fetal intervention was performed with 32 vesicocentesis and amnioinfusion procedures. Despite the unfavorable prenatal findings, and having undergone numerous fetal interventions, the birth resulted in a viable infant.

Infant Mortality Statistics From the 2013 Period Linked Birth/Infant Death Data Set.

Science.gov (United States)

Matthews, T J; MacDorman, Marian F; Thoma, Marie E

2015-08-06

This report presents 2013 period infant mortality statistics from the linked birth/infant death data set (linked file) by maternal and infant characteristics. The linked file differs from the mortality file, which is based entirely on death certificate data. Descriptive tabulations of data are presented and interpreted. The U.S. infant mortality rate was 5.96 infant deaths per 1,000 live births in 2013, similar to the rate of 5.98 in 2012. The number of infant deaths was 23,446 in 2013, a decline of 208 infant deaths from 2012. From 2012 to 2013, infant mortality rates were stable for most race and Hispanic origin groups; declines were reported for two Hispanic subgroups: Cuban and Puerto Rican. Since 2005, the most recent high, the U.S. infant mortality rate has declined 13% (from 6.86), with declines in both neonatal and postneonatal mortality overall and for most groups. In 2013, infants born at 37–38 weeks of gestation (early term) had mortality rates that were 63% higher than for full-term (39–40 week) infants. For multiple births, the infant mortality rate was 25.84, 5 times the rate of 5.25 for singleton births. In 2013, 36% of infant deaths were due to preterm-related causes of death, and an additional 15% were due to causes grouped into the sudden unexpected infant death category. All material appearing in this report is in the public domain and may be reproduced or copied without permission; citation as to source, however, is appreciated.