The Work of Ambroise Tardieu: The First Definitive Description of Child Abuse

Science.gov (United States)

Roche, A.J.; Fortin, G.; Labbe, J.; Brown, J.; Chadwick, D.

2005-01-01

The first important monograph describing the battered child syndrome was written in 1860 by Ambroise Tardieu, a French forensic physician. Here is a translation of his article, published in the Annales d'hygiene publique et de medecine legale, with the title ''Etude medico-legale sur les sevices et mauvais traitements exerces sur des enfants.''…

Diagnostic imaging in child abuse

International Nuclear Information System (INIS)

Stoever, B.

2007-01-01

Diagnostic imaging in child abuse plays an important role and includes the depiction of skeletal injuries, soft tissue lesions, visceral injuries in ''battered child syndrome'' and brain injuries in ''shaken baby syndrome''. The use of appropriate imaging modalities allows specific fractures to be detected, skeletal lesions to be dated and the underlying mechanism of the lesion to be described. The imaging results must be taken into account when assessing the clinical history, clinical findings and differential diagnoses. Computed tomography (CT) and magnetic resonance imaging (MRI) examinations must be performed in order to detect lesions of the central nervous system (CNS) immediately. CT is necessary in the initial diagnosis to delineate oedema and haemorrhages. Early detection of brain injuries in children with severe neurological symptoms can prevent serious late sequelae. MRI is performed in follow-up investigations and is used to describe residual lesions, including parenchymal findings. (orig.) [de

Diagnostic imaging in child abuse; Bildgebende Diagnostik der Kindesmisshandlung

Energy Technology Data Exchange (ETDEWEB)

Stoever, B. [Charite, Campus Virchow-Klinikum, Universitaetsmedizin Berlin, Abteilung Paediatrische Radiologie, CC6, Diagnostische und interventionelle Radiologie und Nuklearmedizin, Berlin (Germany)

2007-11-15

Diagnostic imaging in child abuse plays an important role and includes the depiction of skeletal injuries, soft tissue lesions, visceral injuries in 'battered child syndrome' and brain injuries in 'shaken baby syndrome'. The use of appropriate imaging modalities allows specific fractures to be detected, skeletal lesions to be dated and the underlying mechanism of the lesion to be described. The imaging results must be taken into account when assessing the clinical history, clinical findings and differential diagnoses. Computed tomography (CT) and magnetic resonance imaging (MRI) examinations must be performed in order to detect lesions of the central nervous system (CNS) immediately. CT is necessary in the initial diagnosis to delineate oedema and haemorrhages. Early detection of brain injuries in children with severe neurological symptoms can prevent serious late sequelae. MRI is performed in follow-up investigations and is used to describe residual lesions, including parenchymal findings. (orig.) [German] In der Diagnostik der Kindesmisshandlung ist die Bildgebung ein wesentlicher Faktor. Trotz scheinbar leerer Anamnese gelingt es, typische Verletzungsmuster als Misshandlungsfolge zu erkennen, sowohl im Bereich des Skeletts, der Weichteile, des Abdomens ('battered child syndrome', heute: 'non accidental injury', NAI) als auch im ZNS ('shaken baby syndrome'). Den klinischen Symptomen entsprechend, wird im Verdachtsfall ein adaequates diagnostisches Verfahren eingesetzt, das erwartete charakteristische Befunde nachweist, den Mechanismus der Verletzung aufzeigt und das Alter der Laesionen annaehernd festlegt. Radiologische Skelettbefunde werden hinsichtlich ihrer Spezifitaet fuer eine Misshandlung bewertet. Alle Resultate der Bildgebung sind zusammen mit Anamnese und klinischen Befunden zu deuten. Bei schwerer Misshandlung ohne aeussere Verletzungszeichen ist das rechtzeitige Erfassen einer ZNS

Comparison of radiographic and radionuclide skeletal surveys in battered children

International Nuclear Information System (INIS)

Pickett, W.J.; Faleski, E.J.; Chacko, A.; Jarrett, R.V.

1983-01-01

A review of 13 cases of suspected child abuse in which radionuclide (RN) scans, radiographic skeletal surveys, and sufficient follow-up were available showed that the RN scans were insensitive, even though fractures were more than 48 hours old at the time of the scan. Frequently missed lesions included skull and extremity fractures. Furthermore, soft tissue and visceral abnormalities that were identified on radiographic examination went undetected on RN scan. We conclude that, although the RN scan may augment the radiographic examination, it should not be used alone to screen for the battered child

Batter and method for preparing a pasta

NARCIS (Netherlands)

Wind, P.; Linden, van der E.

2011-01-01

This invention describes a batter that is suitable for preparing a pasta. The batter comprises water, a starch and a protein, whereby the weight ratio between the protein and the total amount of starch in the batter is represented by the symbol y and whereby the weight percentage of the total amount

Violence at the door: treatment of lesbian batterers.

Science.gov (United States)

Margolies, L; Leeder, E

1995-06-01

This article presents the clinical experiences on more than 30 lesbian batterers during a 5-year period in a large city and a small rural community in the US. Data on the psychological profile of batterers and relationships in which abuse occurs are given. The two treatment models described are group therapy, and a three-phase community model. The authors suggest that lesbian batterers are women who have broken the norm of compliant victim, running counter to the expectations of female survivors of childhood family violence. This study concluded that lesbian battering is a social and psychological problem, which can be solved through proper therapy. This was demonstrated by the treatment models, which have been successful in eliminating violence among a diverse group of batterers. However, the lack of understanding about lesbian batterers has resulted to the cycle of violence that continues to be unchallenged.

Pullout capacity of batter pile in sand.

Science.gov (United States)

Nazir, Ashraf; Nasr, Ahmed

2013-03-01

Many offshore structures are subjected to overturning moments due to wind load, wave pressure, and ship impacts. Also most of retaining walls are subjected to horizontal forces and bending moments, these forces are due to earth pressure. For foundations in such structures, usually a combination of vertical and batter piles is used. Little information is available in the literature about estimating the capacity of piles under uplift. In cases where these supporting piles are not vertical, the behavior under axial pullout is not well established. In order to delineate the significant variables affecting the ultimate uplift shaft resistance of batter pile in dry sand, a testing program comprising 62 pullout tests was conducted. The tests are conducted on model steel pile installed in loose, medium, and dense sand to an embedded depth ratio, L/d, vary from 7.5 to 30 and with various batter angles of 0°, 10°, 20°, and 30°. Results indicate that the pullout capacity of a batter pile constructed in dense and/or medium density sand increases with the increase of batter angle attains maximum value and then decreases, the maximum value of Pα occurs at batter angle approximately equal to 20°, and it is about 21-31% more than the vertical pile capacity, while the pullout capacity for batter pile that constructed in loose sand decreases with the increase of pile inclination. The results also indicated that the circular pile is more resistant to pullout forces than the square and rectangular pile shape. The rough model piles tested is experienced 18-75% increase in capacity compared with the smooth model piles. The suggested relations for the pullout capacity of batter pile regarding the vertical pile capacity are well predicted.

Pullout capacity of batter pile in sand

Directory of Open Access Journals (Sweden)

Ashraf Nazir

2013-03-01

Full Text Available Many offshore structures are subjected to overturning moments due to wind load, wave pressure, and ship impacts. Also most of retaining walls are subjected to horizontal forces and bending moments, these forces are due to earth pressure. For foundations in such structures, usually a combination of vertical and batter piles is used. Little information is available in the literature about estimating the capacity of piles under uplift. In cases where these supporting piles are not vertical, the behavior under axial pullout is not well established. In order to delineate the significant variables affecting the ultimate uplift shaft resistance of batter pile in dry sand, a testing program comprising 62 pullout tests was conducted. The tests are conducted on model steel pile installed in loose, medium, and dense sand to an embedded depth ratio, L/d, vary from 7.5 to 30 and with various batter angles of 0°, 10°, 20°, and 30°. Results indicate that the pullout capacity of a batter pile constructed in dense and/or medium density sand increases with the increase of batter angle attains maximum value and then decreases, the maximum value of Pα occurs at batter angle approximately equal to 20°, and it is about 21–31% more than the vertical pile capacity, while the pullout capacity for batter pile that constructed in loose sand decreases with the increase of pile inclination. The results also indicated that the circular pile is more resistant to pullout forces than the square and rectangular pile shape. The rough model piles tested is experienced 18–75% increase in capacity compared with the smooth model piles. The suggested relations for the pullout capacity of batter pile regarding the vertical pile capacity are well predicted.

Child protection: a 50-year perspective.

Science.gov (United States)

Skellern, Catherine Yvette

2015-01-01

It has been 50 years since Kempe et al. published 'The Battered Child Syndrome', describing harm from inflicted injury mechanisms derived from parents and care givers. Since then, there has emerged a rapidly expanding literature on paediatric forensic medicine and child protection, which has offered new insights into injury mechanisms, informed us of the sequelae of abuse and neglect, aided diagnosis and guided clinical practice in the treatment and management of children who become involved in the child protection system. Through the scrutiny of government inquiries and at times uncomfortable media exposure, there have been improvements in child protection and forensic practices resulting in recognition of need for specialised forensic training, improved funding, development of resources and development of professional standards that support accountable, objective, safe and robust practice. From the perspective of an Australian child protection paediatrician, this paper chronicles some of the most significant and at times controversial research in the last 50 years in child protection that have played a key role in shaping our current understanding of child abuse and neglect. © 2014 The Author. Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

Multiple perspectives on groupwork with children of battered women.

Science.gov (United States)

Peled, E; Edleson, J L

1992-01-01

As this century ends there continues to be little public attention devoted to child witnesses of woman abuse and few social programs exist to meet their needs. This article presents the findings of a qualitative evaluation of a group program for children of battered women. Interviews were conducted with 16 mothers, 5 fathers, 9 group leaders, and 30 children who participated in 8 groups. Data also included observations of one complete group process (10 groups and 3 family sessions). Both intended and unintended results are presented and recommendations for practice are discussed.

Child Custody Decisions in Families Experiencing Woman Abuse.

Science.gov (United States)

Saunders, Daniel G.

1994-01-01

Reviews literature comparing risk that battered women and men who batter will physically abuse their children. Challenges several tenets of social work practice lore and cautions practitioners about use of psychological tests and profiles to judge child abuse potential and parenting ability. Discusses hazards of mediation and joint custody and…

Spoiled child syndrome.

Science.gov (United States)

McIntosh, B J

1989-01-01

People often speak of children as being "spoiled" and many parents worry about the possibility of spoiling their infants and children. Many pediatricians, however, are uncomfortable with this term because it is a poorly defined and derogatory expression. Some would even deny that infants and children can be spoiled. Avoiding the use of the expression spoiled can create difficulties in communicating with parents concerned about their children's behavior. In this article, the spoiled child syndrome will be defined and those patterns of behavior that characterize it will be distinguished from other patterns of difficult behavior which may be confused with it. The spoiled child syndrome is characterized by excessive self-centered and immature behavior, resulting from the failure of parents to enforce consistent, age-appropriate limits. Many of the problem behaviors that cause parental concern are unrelated to spoiling as properly understood. Such behaviors are often age-related normal behaviors, reactions to family stresses, or patterns of behavior determined by factors inherent in the child. Pediatricians can provide counseling and reassurance for such behaviors and, by helping parents understand the etiology of true spoiling, can encourage the use of behavior modification techniques for its prevention and treatment.

Fatal child abuse: a study of 13 cases of continuous abuse

Directory of Open Access Journals (Sweden)

Juhani Merikanto

2012-01-01

Full Text Available A parent who continuously physically abuses her/his child doesn’t aim to kill the child but commits an accidental filicide in a more violent outburst of anger. Fatal abuse deaths are prevented by recognition of signs of battering in time. Out of 200 examined intra-familial filicides, 23 (12% were caused by child battering and 13 (7% by continuous battering. The medical and court records of the victim and the perpetrator were examined. The perpetrator was the biological mother and the victim was male in 69 per cent of the cases. The abused children were either younger than one year or from two-and-a-half to four years old. Risk factors of the victim (being unwanted, premature birth, separation from the parent caused by hospitalization or custodial care, being ill and crying a lot and the perpetrator (personality disorder, low socioeconomic status, chaotic family conditions, domestic violence, isolation, alcohol abuse were common. The injuries caused by previous battering were mostly soft tissue injuries in head and limbs and head traumas and the battering lasted for days or even an year. The final assault was more violent and occurred when the parent was more anxious, frustrated or left alone with the child. The perpetrating parent was diagnosed as having a personality disorder (borderline, narcissistic or dependent and often substance dependence (31%. None of them were psychotic. Authorities and community members should pay attention to the change in child’s behavior and inexplicable injuries or absence from daycare. Furthermore if the parent is immature, alcohol dependent, have a personality disorder and is unable to cope with the demands the small child entails in the parent’s life, the child may be in danger.

The psychopathic intimate partner batterer: a non-psychopathological profile

Directory of Open Access Journals (Sweden)

José M. Pozueco-Romero

2014-01-01

Full Text Available This theoretical study reviews two of the most cited profiles of intimate partner batterers in the scientific literature, paying special attention to the most notable differences between them, as well as to their common criteria. The study also discusses one of the longest standing controversies in various research studies, including the particular overview with respect to Spain: it being the constant yet erroneous reference to the equivalence of psychopathy and antisocial personality disorder. Similarly, special attention is paid to the implications of considering intimate partner batterers as having either a psychopathological or psychopathic profile, while also stressing the specific role played by psychopathy in the intimate partner batterer and, concerning psychopathic intimate partner batterers, such aspects as their specific motives for perpetrating intimate partner violence and the evaluation instruments of this particular profile. Finally, a series of future directives for research concerning psychopathic intimate partner batterers are also pointed out.

Hyperimmunoglobulin E syndrome with Sjogren's syndrome in a child

African Journals Online (AJOL)

We describe a case of hyperimmunoglobulin E syndrome (HIES) associated with Sjogren's syndrome (SS) in a 10-year-old boy and provide a brief review of the literature. Although seen in adults, SS occurring after a primary immunodeficiency disease such as HIES has not previously been reported in a child.

The current practices of intervention with batterers

Directory of Open Access Journals (Sweden)

Olga Cunha

2014-03-01

Full Text Available Background Since the 70s there was a proliferation of intervention programs for batterers; however the results remain controversial. Objectives This study aims to analyse the literature published between the years of 2000 and 2013 about the effectiveness of the intervention with batterers. Methods A review of papers about intervention with batterers published during this period (2000-2013 was conducted. Social sciences databases were checked. Papers about programs for a specific public or programs with a broad intervention focus, and with female and homosexual offenders were excluded. Results Thirty-six studies that described 37 intervention programs fulfilled the inclusion criteria. In general, the analysed programs adopted a group format (70.3% and a cognitive-behavioural (56.8% or psychoeducational (18.9% intervention model (32.4% assumed to adopt a Duluth model. Concerning the effectiveness, results showed success rates of 39.4%-97%, dropout rates of 10%-58% and recidivism rates of 0%-65.9%. Discussion The effectiveness of intervention with batterers remains controversial, which seems to be due to the different methodologies used in the studies. Despite the inconsistencies, programs for perpetrators are an important way to reduce intimate partner violence recidivism.

Preliminary evaluation of child self-rating using the Child Tourette Syndrome Impairment Scale.

Science.gov (United States)

Cloes, Kelly Isaacs; Barfell, Kara S Francis; Horn, Paul S; Wu, Steve W; Jacobson, Sarah E; Hart, Kathleen J; Gilbert, Donald L

2017-03-01

To evaluate and compare how children with Tourette syndrome and parents rate tic and non-tic behavioral related impairment in home, school, and social domains; to compare these with clinician tic ratings; and to identify factors that may predict greater impairment. In a sample of 85 Tourette syndrome and 92 healthy control families, the Child Tourette Syndrome Impairment Scale, designed for parent-report and which includes 37 items rated for tic and non-tic impairment, was administered to parents and, with the referent modified, to children ages 9 to 17 years. Tic severity was rated using the Yale Global Tic Severity Scale (YGTSS). Analyses utilized descriptive and multivariate statistics. Tourette syndrome children's and parents' impairment ratings were higher than HC (ptic impairment ratings correlated with YGTSS (r=0.36 to 0.37; ptic and all 37 non-tic impairment items. For 29 items, children self-rated impairment higher for tics than non-tics. Diagnoses of attention-deficit-hyperactivity disorder and obsessive-compulsive disorder had larger effects on parent impairment ratings. The Child Tourette Syndrome Impairment Scale appears informative for child self-rating in Tourette syndrome. © 2016 Mac Keith Press.

Traumatisk distal humerus-epifysiolyse hos nyfødt

DEFF Research Database (Denmark)

Al-Aubaidi, Zaid; Nielsen, Keld Daubjerg

2010-01-01

Traumatic distal humerus epiphysiolysis (TDHE) is a rare injury in infants with an incidence of about 1:35,000 births. It is primarily a birth injury, but it is also seen in cases of battered child syndrome. Because of its rare occurrence and the diagnostic difficulties, the lesion may be overloo......Traumatic distal humerus epiphysiolysis (TDHE) is a rare injury in infants with an incidence of about 1:35,000 births. It is primarily a birth injury, but it is also seen in cases of battered child syndrome. Because of its rare occurrence and the diagnostic difficulties, the lesion may...

Parenting style and the vulnerable child syndrome.

Science.gov (United States)

Duncan, Andrea Freeman; Caughy, Margaret O'Brien

2009-11-01

Vulnerable child syndrome (VCS) refers to the combination of the parental view that their child is at increased risk for death despite the child's objective health and the resulting behavior problems in the child. Although risk factors for the development of the syndrome have been outlined, the variability in the development of VCS has not been explained. A theoretical explanation for the variability in the development of VCS utilizing Susan Calkins' model is explored. By considering the development of VCS in light of Calkins' model, variability may be explained and preventative interventions may be instituted. Relevant literature pertaining to child development and VCS was reviewed. By recognizing the risk of the role that parenting sensitivity plays in the development of VCS, team-based interventions involving a developmental approach may be employed, and the long-term behavioral sequelae of the disorder may be prevented or alleviated.

Vulnerability to Post-Traumatic Stress Disorder among Battered Women in Israel.

Science.gov (United States)

Arzy, Ronit; Amir, Marianne; Kotler, Moshe

The increasing prevalence of domestic violence in Israel has engendered a critical need to identify and treat battered women. This paper looks at Posttraumatic Stress disorder (PTSD) and considers its predictors among battered women. The research sample was comprised of a sample of 91 battered women between the ages of 20 and 60 who applied to the…

Gun Possession among Massachusetts Batterer Intervention Program Enrollees

Science.gov (United States)

Rothman, Emily F.; Johnson, Renee M.; Hemenway, David

2006-01-01

Batterers with access to firearms present a serious lethal threat to their partners. The purpose of this exploratory study is to estimate the prevalence of and risk markers for gun possession among Massachusetts men enrolled in batterer intervention programs. The authors found that 1.8% of the men reported having a gun in or around their home.…

Physicochemical Properties of Meat Batter Added with Edible Silkworm Pupae (Bombyx mori) and Transglutaminase

Science.gov (United States)

Choi, Yun-Sang

2017-01-01

This study was conducted to investigate the physicochemical properties of meat batters prepared with fresh pork meat, back fat, water, and salt and formulated with three different amounts (5%, 10%, and 15%) of silkworm pupae (Bombyx mori) powder and transglutaminase (TG). Meat batters formulated with silkworm pupae powder showed significantly higher contents of protein and ash than control batter. Addition of silkworm pupae to batter also showed significantly lower cooking loss than the control. Moreover, meat batter containing 15% silkworm pupae showed no significant difference in redness value compared to the control. In addition, pH, viscosity, hardness, gumminess, and chewiness were improved after the addition of silkworm pupae. Furthermore, meat batter formulated with TG and silkworm pupae showed improved hardness, gumminess, chewiness and viscosity compared to control batter. Addition of 1% TG with 15% silkworm pupae to meat batter resulted in significantly higher pH, textures, and viscosity. Our data suggest that both silkworm pupae and TG can be added to meat batter to improve its physicochemical properties. Therefore, combination of silkworm pupae and TG could be a new nutritional and functional source for meat products. PMID:28747820

Physicochemical Properties of Meat Batter Added with Edible Silkworm Pupae (Bombyx mori) and Transglutaminase.

Science.gov (United States)

Park, Yoo-Sun; Choi, Yun-Sang; Hwang, Ko-Eun; Kim, Tae-Kyung; Lee, Cheol-Won; Shin, Dong-Min; Han, Sung Gu

2017-01-01

This study was conducted to investigate the physicochemical properties of meat batters prepared with fresh pork meat, back fat, water, and salt and formulated with three different amounts (5%, 10%, and 15%) of silkworm pupae ( Bombyx mori ) powder and transglutaminase (TG). Meat batters formulated with silkworm pupae powder showed significantly higher contents of protein and ash than control batter. Addition of silkworm pupae to batter also showed significantly lower cooking loss than the control. Moreover, meat batter containing 15% silkworm pupae showed no significant difference in redness value compared to the control. In addition, pH, viscosity, hardness, gumminess, and chewiness were improved after the addition of silkworm pupae. Furthermore, meat batter formulated with TG and silkworm pupae showed improved hardness, gumminess, chewiness and viscosity compared to control batter. Addition of 1% TG with 15% silkworm pupae to meat batter resulted in significantly higher pH, textures, and viscosity. Our data suggest that both silkworm pupae and TG can be added to meat batter to improve its physicochemical properties. Therefore, combination of silkworm pupae and TG could be a new nutritional and functional source for meat products.

Nursing diagnoses and interventions for post-acute-phase battered women.

Science.gov (United States)

Carlson-Catalano, J

1998-01-01

To identify nursing diagnoses and interventions applicable for post-acute-phase battered women. Eight battered women were interviewed twice for 2 hours. Gordon's functional health patterns provided the framework for data collection. Fifty-three nursing diagnoses and 52 nursing interventions were indicated in the data; 24 nursing diagnoses and 26 nursing interventions were present in all participants' data. With the use of comprehensive interventions, nurses can make a major contribution to society by enabling battered women to move to a more protected lifestyle.

Combined effects of presalted prerigor and postrigor batter mixtures on chicken breast gelation.

Science.gov (United States)

Choi, Yun-Sang; Kim, Hyun-Wook; Hwang, Ko-Eun; Song, Dong-Hun; Jeong, Tae-Jun; Jeon, Ki-Hong; Kim, Young-Boong; Kim, Cheon-Jei

2015-04-01

We examined the combined effects of prerigor and postrigor batter mixtures on protein gelation. The postrigor batter was prepared with 2% salt, whereas the prerigor meat at 5 min postmortem was used to prepare postrigor batters at different salt levels. For 5 treatments, prerigor batters were mixed with postrigor batter that had 2% salt (control) as follows: T1: ground presalted (1%) hot-boned breast with 1% salt for 50% total batch; T2: ground presalted (2%) hot-boned breast for 50% total batch; T3: ground presalted (3%) hot-boned breast for 30% total batch that was mixed with cold-boned batter for 50% total batch; T4: ground presalted (4%) hot-boned breast for 25% total batch that was mixed with cold-boned batter for 50% total batch; and T5: ground presalted (5%) hot-boned breast for 20% total batch that was mixed with cold-boned batter for 50% total batch. Treatments with both presalted prerigor and postrigor muscle showed less cooking loss and lower emulsion stability than the control, except T5. The protein solubility and apparent viscosity of the control was the lowest. Thus, presalted hot-boned muscle combined with cold-boned muscle positively affected physicochemical properties. © 2015 Poultry Science Association Inc.

Are batterers different from other criminals? An fMRI study

Science.gov (United States)

Verdejo-Román, Juan; Contreras-Rodríguez, Oren; Carmona-Perera, Martina; Pérez-García, Miguel; Hidalgo-Ruzzante, Natalia

2016-01-01

Abstract Intimate partner violence (IPV) is a complex and global phenomenon that requires a multi-perspective analysis. Nevertheless, the number of neuroscientific studies conducted on this issue is scarce as compared with studies of other types of violence, and no neuroimaging studies comparing batterers to other criminals have been conducted. Thus, the main aim of this study was to compare the brain functioning of batterers to that of other criminals when they are exposed to IPV or general violence pictures. An fMRI study was conducted in 21 batterers and 20 other criminals while they observed IPV images (IPVI), general violence images (GVI) and neutral images (NI). Results demonstrated that batterers, compared with other criminals, exhibited a higher activation in the anterior and posterior cingulate cortex and in the middle prefrontal cortex and a decreased activation in the superior prefrontal cortex to IPVI compared to NI. The paired t-test comparison between IPVI and GVI for each group showed engagement of the medial prefrontal cortex, the posterior cingulate and the left angular cortices to IPVI in the batterer group only. These results could have important implications for a better understanding of the IPV phenomenon. PMID:26884544

COATING OF FOOD PRODUCTS : BATTER AND BREADING TECHNIQUES AND EQUIPMENTS

Directory of Open Access Journals (Sweden)

Figen KAYMAK ERTEN

2005-01-01

Full Text Available The coating process of food products with various mixtures prior to frying is a common application in kitchens whereas it still requires much investigation in technological area. In this study, batter and breading technology used in coating of foods is reviewed. The coating process was defined, and the function of predusting, battering and breading, the general composition of batter and breading mixtures and the functions of the ingradients were explained. In the coating application, the most important problem known as adhesion and the effects of it on the efficiency and cost were investigated. Batter and breading processing equipments used in the industry and the process lines were reviewed, and the problems, new designs and the latest patents relating them were discussed. New coating systems known as tumbling and fluidization were investigated and compared with other systems.

Influence of physicochemical properties of rice flour on oil uptake of tempura frying batter.

Science.gov (United States)

Nakamura, Sumiko; Ohtsubo, Ken'ichi

2010-01-01

The physicochemical properties of rice flour and wheat flour influenced the oil uptake of tempura frying batter. Rice flour was better than wheat flour in the overall quality and crispness of the fried tempura batter. Rice flour resisted oil absorption more than wheat flour, and a higher level of apparent starch amylose and higher consistency/breakdown ratio of the pasting properties led to a lower oil uptake of the batter. Super hard EM10 rice showed the highest apparent amylose content and higher consistency/breakdown ratio than the other flour samples, the batter from EM10 revealing the lowest oil content after frying among all the batters examined. The apparent amylose content, consistency/breakdown ratio and oil absorption index are proposed as useful guides for oil absorption when frying from among the physicochemical properties that influence the oil content of fried batter. Our proposal for the "oil absorption index" could be a simple, although not perfect method for estimating the oil content of batter flour.

Mother-Child Play: Children with Down Syndrome and Typical Development

Science.gov (United States)

Venuti, P.; de Falco, S.; Esposito, G.; Bornstein, Marc H.

2009-01-01

Child solitary and collaborative mother-child play with 21 children with Down syndrome and 33 mental-age-matched typically developing children were compared. In solitary play, children with Down syndrome showed less exploratory but similar symbolic play compared to typically developing children. From solitary to collaborative play, children with…

Invisible victims: battered women in psychiatric and medical emergency rooms.

Science.gov (United States)

Keller, L E

1996-01-01

Violence against women by their male partners is widespread and infrequently identified as a causal factor in multiple physical and psychological problems of female patients in medical and psychiatric settings. Three main countertransferences that interfere with accurate identification of battered women are described: (1) counter- identification, (2)countertransference rage, and (3) countertransference helplessness. Battering men and battered women are found in all levels of society, although younger, lower income, less-educated men who have observed parental violence in their own home are at higher risk of abusing their spouses. Additionally, antisocial personality disorder, depression, and/or alcohol and drug abuse increase the risk of male violence in the home. Contrary to popular belief, the husband-to-wife violence is usually motivated by his need to control her rather than a result of his loss of control. Battered women show no consistent prebattering risk markers, except for a history of parental violence in their family of origin. Violence against women by their male partners is a serious public health problem that has not been adequately addressed by the medical and psychiatric professions. Myths and clinical realities of battered women are described and detailed recommendations for clinical inquiry and evaluation of level of danger are given.

Seismic Dynamic Damage Characteristics of Vertical and Batter Pile-supported Wharf Structure Systems

Directory of Open Access Journals (Sweden)

Li Jiren

2015-10-01

Full Text Available Considering a typical steel pipe pile-supported wharf as the research object, finite element analytical models of batter and vertical pile structures were established under the same construction site, service, and geological conditions to investigate the seismic dynamic damage characteristics of vertical and batter pile-supported wharf structures. By the numerical simulation and the nonlinear time history response analysis of structure system and the moment–axial force relation curve, we analyzed the dynamic damage characteristics of the two different structures of batter and vertical piles under different seismic ground motions to provide reasonable basis and reference for designing and selecting a pile-supported wharf structure. Results showed that the axial force of batter piles was dominant in the batter pile structure and that batter piles could effectively bear and share seismic load. Under the seismic ground motion with peak ground acceleration (PGA of 350 Gal and in consideration of the factors of the design requirement of horizontal displacement, the seismic performance of the batter pile structure was better than that of the vertical pile structure. Under the seismic ground motion with a PGA of 1000 Gal, plastic failure occurred in two different structures. The contrastive analysis of the development of plastic damage and the absorption and dissipation for seismic energy indicated that the seismic performance of the vertical pile structure was better than that of the batter pile structure.

Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

Science.gov (United States)

Castori, Marco

2015-12-01

Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues. It is usually ascertained due to abnormal skin texture, scarring complications, vascular fragility, or chronic symptoms, such as fatigue and musculoskeletal pain. Sometimes, Ehlers-Danlos syndrome remains undetected until the patient, usually in the pediatric age, shows extensive or severe mucocutaneous injuries after only minor traumas. In this scenario, the misdiagnosis of Ehlers-Danlos syndrome with child abuse is a possibility, as occasionally reported in the literature. Recently, more attention was posed by lay people between the possible association of Ehlers-Danlos syndrome and bone fragility. Literature and personal experience show a strong association between Ehlers-Danlos syndrome, generalized joint hypermobility and reduced bone mass density in older children and adults, especially fertile women. The existence of a true increased risk of fracture in Ehlers-Danlos syndrome is still a matter of debate in children and adults with little and conflicting evidence. In case of suspected child abuse, Ehlers-Danlos syndrome is certainly on the differential for bruising, especially in EDS types with marked cutaneous and capillary involvement. In suspected child abuse cases, careful examination of the index case and her/his extended family is routine, as well as exclusion of other disorders such as osteogenesis imperfecta. The hypothesis of Ehlers-Danlos syndrome as an alternative explanation for infantile fractures remains speculative. © 2015 Wiley Periodicals, Inc.

'Refeeding syndrome' in a Kuwaiti child: clinical diagnosis and management.

Science.gov (United States)

Al Sharkawy, Ibrahim; Ramadan, Dina; El-Tantawy, Amira

2010-01-01

To report a case of refeeding syndrome in a Kuwaiti child, its clinical presentation and management. A 13-month-old Kuwaiti boy presented with acute severe malnutrition in the form of marasmic kwashiorkor. On admission, blood sugar and serum electrolytes were normal but on the 3rd day he developed typical biochemical features of refeeding syndrome in the form of hyperglycemia, severe hypophosphatemia, hypokalemia, hypocalcemia and hypomagnesemia. The child then received treatment appropriate for refeeding syndrome in the form of lower calorie intake with gradual increase, as well as supplementation of electrolytes, thiamine and vitamins and he eventually made a safe recovery. This case showed that during rehabilitation of a malnourished child, a severe potentially lethal electrolyte disturbance (refeeding syndrome) can occur. Careful monitoring of electrolytes before and during the refeeding phase was needed and helped to detect this syndrome early. We suggest that slow and gradual calorie increase in the 'at-risk' patient can help prevent its occurrence. Copyright (c) 2010 S. Karger AG, Basel.

Anesthesia for a child with Walker–Warburg syndrome

Directory of Open Access Journals (Sweden)

Emine Arzu Kose

2014-03-01

Full Text Available Background and objectives: Walker–Warburg Syndrome is a rare, autosomal recessive congenital muscular dystrophy manifested by central nervous system, eye malformations and possible multisystem involvement. The diagnosis is established by the presence of four criteria: congenital muscular dystrophy, type II lissencephaly, cerebellar malformation, and retinal malformation. Most of the syndromic children die in the first three years of life because of respiratory failure, pneumonia, seizures, hyperthermia and ventricular fibrillation. Case report: The anesthetic management of a two-months-old male child listed for elective ventriculo-peritoneal shunt operation was discussed. Conclusions: A careful anesthetic management is necessary due to the multisystem involvement. We reported anesthetic management of a two-months-old male child with Walker–Warburg Syndrome who was listed for elective ventriculo-peritoneal shunt operation. Keywords: Walker–Warburg Syndrome, Congenital muscular dystrophy, General anesthesia

Child Abuse-Neglect and Forensic Odontology

Directory of Open Access Journals (Sweden)

Zehtiye Fusun Yasar

2007-10-01

Full Text Available The battered child syndrome, a behavioral deviation exposing children to harmful, non-accidental and preventable physical treatment of person or people who are responsible to look after them which prevents their physical and psycosocial development and conflicts with the cultural values of the society, is style of great importance today as an undissolved humanity problem. Child abuse is considered among the most severe forms of chidhood trauma due to its repeatability, and to its being performed by those closest to the victim. Its diagnosis is very difficult, and therefore so is its treatment. Its physical, psychological and social consequences appear in the long run. The awereness, experience and motivation of the physician are extremely important for diagnosis. Forensic deontologists have a very important role to describe the child abuse and neglect. When they examine the child they can find many evidence about abuse and neglect in oral cavity. Therefore when a child has oral injuries or dental neglect is suspected, the child will benefit from the physician's consultation with a pediatric dentist or a dentist with formal training in forensic odontology. Multidisciplinary teams for identifying and evaluating cases of child abuse and neglect present one option for collaboration. In that case physicians, dentists and child care workers working together can assist each other in the detection and of the effects of child abuse. This article is planned, to underline the seriousness and importance of the law, to clarify deficiencies of the law and to take attention of related people. [TAF Prev Med Bull 2007; 6(5.000: 389-394

The head tracks and gaze predicts: how the world's best batters hit a ball.

Directory of Open Access Journals (Sweden)

David L Mann

Full Text Available Hitters in fast ball-sports do not align their gaze with the ball throughout ball-flight; rather, they use predictive eye movement strategies that contribute towards their level of interceptive skill. Existing studies claim that (i baseball and cricket batters cannot track the ball because it moves too quickly to be tracked by the eyes, and that consequently (ii batters do not - and possibly cannot - watch the ball at the moment they hit it. However, to date no studies have examined the gaze of truly elite batters. We examined the eye and head movements of two of the world's best cricket batters and found both claims do not apply to these batters. Remarkably, the batters coupled the rotation of their head to the movement of the ball, ensuring the ball remained in a consistent direction relative to their head. To this end, the ball could be followed if the batters simply moved their head and kept their eyes still. Instead of doing so, we show the elite batters used distinctive eye movement strategies, usually relying on two predictive saccades to anticipate (i the location of ball-bounce, and (ii the location of bat-ball contact, ensuring they could direct their gaze towards the ball as they hit it. These specific head and eye movement strategies play important functional roles in contributing towards interceptive expertise.

Expert Baseball Batters Have Greater Sensitivity in Making Swing Decisions

Science.gov (United States)

Gray, Rob

2010-01-01

This study used signal detection theory to conceptualize the problem a baseball batter faces when deciding whether or not to swing at a pitch. It examined the launch angle (LA) criteria used by expert (college players) and less experienced (recreational league players) batters using a baseball batting simulation. This study showed that, although…

How to tell a new story about battering.

Science.gov (United States)

Polletta, Francesca

2009-12-01

As Evan Stark observes, getting domestic violence against women recognized as coercive control will require a major effort of storytelling. Women's accounts of subjugation have to be narrated in a way that is both true to their experiences and capable of eliciting public understanding, sympathy, and action. This essay draws on an interdisciplinary literature on narrative to show why doing that poses such a formidable challenge. In lieu of the tragic form that has dominated battered women's storytelling, and in lieu of the quest and mystery forms that appear in Stark's own accounts, this article argues for using a rebirth story line.This genre, which has affinities with the fairytales Snow White and Sleeping Beauty, seems an unlikely vehicle for asserting battered women's combination of victimization and agency. Drawing on the stories told by battered women as part of a successful reform effort, however, this article shows how women have used the form effectively.

A New Device for Studying Deep-Frying Behavior of Batters and Resulting Crust Properties

NARCIS (Netherlands)

Visser, J.E.; Beukelaer, de H.J.; Hamer, R.J.; Vliet, van T.

2008-01-01

The formation and properties of a crust during and after deep frying are difficult to study. Batter pickup (the amount of batter adhering to a product) and core properties affect crust formation and properties of the crust in such way that it is difficult to compare batters of different viscosity or

Intimate partner violence offenders: Generating a data-based typology of batterers and implications for treatment

Directory of Open Access Journals (Sweden)

Olga Cunha

2013-07-01

Full Text Available Different studies have proposed that batterers can be classified into distinct groups according topsychopathology, violence severity and frequency. The aim of the current study was to define a data-basedbatterer’s typology and its implications for rehabilitation. Data were collected from 187 male sentenced forintimate partner violence –111 of them to prison and 76 to community service. A cluster analysis supporteda three-cluster solution: non-pathological (NP, 40%, antisocial/violent (AV, 27% and disturbed batterers(DB, 33%. Subsequent analysis showed that AV batterers were profiled through the perpetration of physicaland psychological violence, antisocial behaviour, deviant lifestyle, criminal records, inter parental violenceand drug abuse; DB batterers, were profiled through behaviours of psychological violence, physicalaggression and hostility, clinical symptomatology (e.g., somatisation, depression, anxiety, paranoidideation, criminal records, antisocial behaviour, and a deviant lifestyle; and NP batterers were not profiledthrough any of the variables related to criminality and recidivism. Multinomial logistic regressionsupported different logistic models for batterer types in terms of psychopathological, antisocial andperpetrated violence-type variables. Implications of batterer typology on treatment are discussed.

Mother-child agreement on behavioral ratings in Tourette syndrome: a controlled study.

Science.gov (United States)

Termine, Cristiano; Luoni, Chiara; Selvini, Claudia; Bandera, Valentina; Balottin, Umberto; Eddy, Clare M; Cavanna, Andrea E

2014-01-01

In Tourette syndrome, motor and phonic tics are associated with a spectrum of psychiatric disorders. As proxy report instruments are commonly used to assess children with Tourette syndrome, we investigated the relationship between child and mother ratings of behavioral problems. We enrolled 28 children with Tourette syndrome (25 males; mean age, 13.9 years) and 61 gender- and age-matched healthy controls (55 males; mean age, 14.7 years). Clinicians completed measures of tic severity, and all children completed the Youth Self-Report version of the Child Behavior Checklist, while their mothers completed the Child Behavior Checklist. In the clinical group, Youth Self-Report scores were significantly lower than mothers' Child Behavior Checklist scores across the majority of subscales (especially affect and somatization). In contrast, for the control group, mother and child ratings only differed for the externalizing behavior subscales. Clinicians should be aware of these differences between self and mother ratings for specific behavioral problems in Tourette syndrome.

Structural changes evaluation with Raman spectroscopy in meat batters prepared by different processes.

Science.gov (United States)

Kang, Zhuang-Li; Li, Xiang; He, Hong-Ju; Ma, Han-Jun; Song, Zhao-Jun

2017-08-01

A comprehensive study was conducted to evaluate the structural changes of meat and protein of pork batters produced by chopping or beating process through the phase-contrast micrograph, laser light scattering analyzer, scanning electronic microscopy and Raman spectrometer. The results showed that the shattered myofibrilla fragments were shorter and particle-sizes were smaller in the raw batter produced by beating process than those in the chopping process. Compared with the raw and cooked batters produced by chopping process, modifications in amide I and amide III bands revealed a significant decrease of α -helix content and an increase of β -sheet, β -turn and random coils content in the beating process. The changes in secondary structure of protein in the batter produced by beating process was thermally stable. Moreover, more tyrosine residues were buried, and more gauche-gauche-trans disulfide bonds conformations and hydrophobic interactions were formed in the batter produced by beating process.

Successful treatment of Reye's syndrome in a child (сase report

Directory of Open Access Journals (Sweden)

Tsymbalista O.L.

2016-03-01

Full Text Available A 6-year-old child with Reye's syndrome was successfully treated in the Department of Pediatric Anaesthesiology and Intensive Care of the Ivano-Frankivsk Regional Children's Clinical Hospital. At admission to the hospital the child's condition was critical due to cerebral vascular insufficiency (semicoma, psychomotor agitation, endogenous intoxication syndrome, severe anemic syndrome (Hb — 78g/l, and coagulopathy. Due to the progression of type II respiratory failure, hepatic failure, hemorrhagic and anemic syndromes, and cerebral deficit tracheal intubation for the purpose of controlled ventilation was performed. In order to correct anemia, hypoproteinemia and hemorrhagic syndrome washed erythrocytes, a 10% albumin solution and fresh frozen plasma were transfused. Therapeutic bronchoscopy was performed due to the progression of the expectorant component secondary to ventilator!associated pneumonia. Nonspecific detoxification therapy with discrete plasmapheresis was used. On the 3rd day of treatment tracheal extubation was performed, on the 10th day the child was transferred to the gastroenterology department. On the 13th day of hospital stay in the gastroenterology department and on the 24th day of admission the child was discharged home in satisfactory condition.

Self-deception among men who are mandated to attend a batterer intervention program.

Science.gov (United States)

Smith, Marilyn E; Randall, Elizabeth J

2007-10-01

Intimate partner violence continues to be a confounding national health problem, especially for women and children. Certified batterers' intervention programs are one means currently being used to combat intimate partner violence. Existential phenomenology was utilized in this qualitative study to gain an understanding of the perceptions of the perpetrator prior to beginning a batterer intervention program. The batterer's experience is divided into two major themes: lack of justification of behaviors toward him and minimization and justification of his behaviors toward the victim and others. It is hoped that obtaining this understanding will encourage program personnel working in the area of batterers' intervention programs to include more emotional skills training within such programs, thus improving the quality of life for victims, perpetrators, and their families.

Nasal encephalocele in a child with Beckwith-Wiedemann syndrome

NARCIS (Netherlands)

Broekman, Marike L. D.; Hoving, Eelco W.; Kho, Kuan H.; Speleman, Lucienne; Sen Han, K.; Hanlo, Patrick W.

Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by gigantism, macroglossia, exophthalmos, postpartum hypoglycemia, and multiple midline defects such as omphalocele. The authors describe, to the best of their knowledge, the first case of a child in whom BWS was diagnosed

Anesthetic Approach to a Child with Noonan's Syndrome

Directory of Open Access Journals (Sweden)

Zehra Hatipoglu

2015-03-01

Full Text Available Noonan syndrome is characterized by fascial and physical features along with congenital heart disease. In these patients, fascial features include short webbed neck, micrognathia, limited mouth opening and high arched palate. Pulmonary stenosis and hypertrophic obstructive cardiomyopathy are highly prevalent in Noonan's syndrome. The anesthetic management is important because of difficult airway and severe cardiac abnormalities. We reported that anesthetic management of a child with Noonan's syndrome. [Cukurova Med J 2015; 40(Suppl 1: 47-50

Growth hormone deficiency in a Nigerian child with Turner's syndrome

African Journals Online (AJOL)

IRORO YARHERE

Growth hormone treatment early in the course of management of a child with Turner syndrome may help achieve normal final height. Keywords: Turner's syndrome, short stature, growth hormone deficiency, growth hormone ..... cognitive deficit.

Infantile ictal apneas in a child with williams-beuren syndrome.

Science.gov (United States)

Myers, Kenneth A; McLeod, D Ross; Bello-Espinosa, Luis

2013-02-01

Williams-Beuren syndrome is a genetic disorder rarely associated with seizures. The few described cases of Williams-Beuren syndrome and epilepsy have primarily involved infantile spasms and deletions extending beyond the common deletion region for this disorder. We present the case of a 5-week-old child with ictal apneas and typical Williams-Beuren syndrome deletion. Diagnosis was challenging, because the child had cardiac, respiratory, and gastrointestinal abnormalities typically associated with Williams-Beuren syndrome, which are also associated with cyanotic episodes. The results of interictal electroencephalography were normal, illustrating that prolonged electroencephalography is often essential in evaluation of suspected ictal apneas. Seizure freedom was achieved with carbamazepine. Sudden death is seen in Williams-Beuren syndrome, and this case raises the question whether some of these cases may be related to ictal apneas and could potentially be preventable with appropriate pharmaceutical intervention. Copyright © 2013 Elsevier Inc. All rights reserved.

Hematodermic Tumour Resembling a Battered Child Syndrome

Directory of Open Access Journals (Sweden)

Ruggiero Antonio

2016-10-01

Conclusion: Although hematodermic tumors are relatively rare, clinicians should broaden the differential diagnosis, to include malignancies, when unexplained clinical pictures are brought to their attention.

Burnout Stress Syndrome in Child Protection.

Science.gov (United States)

Verstraete, Patricia A.

1994-01-01

Burnout stress syndrome is a complex concept reflecting a failure in both the individual's defense mechanism and in the work environment. Since child protection agencies cannot afford the costs of staff burnout, time and money spent by the organization to reduce employee stress is an investment in better service delivery. (TJQ)

Munchausen syndrome by proxy and child's rights

International Nuclear Information System (INIS)

Al-Haidar, Fatima A.

2008-01-01

Munchausen syndrome by proxy (MSBP) is an extreme form of child abuse in which perpetrators induce life-threatening conditions in their children. A case of MSBP is described in detail. Difficulties in diagnosis and management in this part of the world are presented. Until now, no national legal guidelines exist in the Kingdom of Saudi Arabia (KSA) to child abuse in general and MSBP in particular. Urgent guidelines, policies and legal system are required in the KSA. (author)

Nephrotic syndrome: a rare cause of acute coronary syndrome in a child

International Nuclear Information System (INIS)

Khan, J.A.; Shamsi, F.

2012-01-01

Patients with nephrotic syndrome are at risk of developing thrombosis in both veins and arteries. Various manifestations in different organs have been reported. Thrombi in heart seen, associated with multi organ thrombosis have been reported on autopsy earlier, but only once in a living patient with nephrotic syndrome. Here, we report a 13 years old boy with steroid-resistant nephrotic syndrome, who developed an asymptomatic but potentially hazardous large intracardiac thrombus. The child developed nephrotic syndrome at the age of 9 years and had multiple recurrences. At the age of 13 years, he developed myocardial infarction (MI) due to embolism from a large intracardiac thrombus. Later on, he was treated with heparin and warfarin anticoagulation. (author)

Rheological behavior of indian traditional fermented wheat batters used for preparation of Kurdi & Seera

Directory of Open Access Journals (Sweden)

Vedprakash D. SURVE

2014-08-01

Full Text Available Traditional Indian cereal based fermented food products like Kurdi (Maharashtra and Seera (Himachal Pradesh are prepared from batter of fermented wheat grains. These wheat batters were prepared by soaking wheat grains (Triticum Astivum L., variety: PBN51 in water at different temperatures (30, 37.5 and 45°C for four days (natural fermentation, crushed, centrifuged and characterized for rheological properties. The present study was aimed to test the effect of soaking temperature (during natural fermentation of wheat grains on the rheological behavior of wheat batter. It was determined that viscosity and yield stress of the wheat batter decreased with increase in soaking temperature of natural fermentation. Yield stress decreased by 65% and 82% for wheat grains soaked at 37.5°C and 45°C, respectively as compared to those soaked at 30°C. This was attributed to the degradation of the carbohydrates by the natural flora of microorganisms. Increasing the soaking temperature during natural fermentation decreased the fluid consistency index and increased the flow behavior index of the batter, demonstrating a lower viscosity and increased fluidity. All the samples revealed shear thinning behavior. Gelatinization temperature of the wheat batter decreased with increase in soaking temperature as demonstrated by viscoelastic analysis (loss modulus, storage modulus, Tan δ of the samples.

Modalities of Educational Management of the Tourette Syndrome Child.

Science.gov (United States)

Price, Renee

Questionnaires were sent to 42 schools in New Jersey to determine the educational procedures used with students having Tourette Syndrome, a neurological condition resulting in body tics and inappropriate vocalization. Parents of an elementary child with the syndrome who was mainstreamed were interviewed and his classroom teacher was also queried…

Rheometric Non-Isothermal Gelatinization Kinetics of Chickpea Flour-Based Gluten-Free Muffin Batters with Added Biopolymers

Directory of Open Access Journals (Sweden)

María Dolores Alvarez

2017-01-01

Full Text Available An attempt was made to analyze the elastic modulus (G0 of chickpea flour (CF-based muffin batters made with CF alone and with added biopolymers (whey protein (WP, xanthan gum (XG, inulin (INL, and their blends in order to evaluate their suitability to be a wheat flour (WF substitute in muffins, and to model the heat-induced gelatinization of batters under non-isothermal heating condition from 25 ◦C to 90 ◦C. A rheological approach is proposed to determine the kinetic parameters (reaction order (n, frequency factor (k0, and activation energy (Ea using linearly-increasing temperature. Zero-order reaction kinetics adequately described batter gelatinization process, therefore assuming a constant rate independent of the initial G0 value. The change of the derivative of G0 with respect to time (dG0/dt versus temperature is described by one exponential function with activation energies ranging from 118 to 180 kJ·mol−1. Control wheat gluten batter, with higher and lower starch and protein contents, respectively, than CF-based batters, exhibited the highest Ea value. Formulation of CF-based gluten-free batters with starch and protein contents closer to the levels of WF-based batter could be a strategy to decrease differences in kinetic parameters of muffin batters and, therefore, in technological characteristics of baked muffins.

Effect of extruded wheat flour as a fat replacer on batter characteristics and cake quality.

Science.gov (United States)

Román, Laura; Santos, Isabel; Martínez, Mario M; Gómez, Manuel

2015-12-01

The effects of three levels of fat replacement (1/3, 2/3, and 3/3) by extruded flour paste and the effects of the presence of emulsifier on layer cake batter characteristics and final cake quality were studied. Replacement of oil by extruded flour paste modified the batter density and microscopy, reducing the number of air bubbles and increasing their size, while emulsifier incorporation facilitated air entrapment in batter. Emulsifier addition also increased the elastic and viscous moduli of the batter, while oil reduction resulted in a less structured batter. Emulsifier incorporation leads to good quality cakes, minimizing the negative effect of oil reduction, maintaining the volume and reducing the hardness of cakes. Furthermore, consumer acceptability of the reduced fat cakes was improved by the addition of emulsifier. Thus, the results confirmed the positive effect of partial oil substitution (up to 2/3) by extruded flour paste on the quality of reduced fat cakes when emulsifier was incorporated.

Effect of probiotic thermotolerant lactic bacteria on the physicochemical, microbiological and sensorial characteristics of cooked meat batters

Directory of Open Access Journals (Sweden)

Nallely Saucedo-Briviesca

2017-07-01

Full Text Available Some lactic acid bacteria (LAB can overexpress heat shock proteins and thus survive the heat treatment of meat products. The objective of this work was the effect of probiotic thermotolerant lactic acid bacteria on the physicochemical, microbiological and sensorial characteristics in a meat batter. Two thermotolerant probiotic lactic bacteria were used: Pediococcus pentosaceus and Enterococcus faecium, which were inoculated to 5% in a meat batter, another batter was made with the mixture of both strains; a batter without bacteria was the control. Both physicochemical and microbiological analyses were performed at day 1, 6, 13 and 16. At day 1 a discriminatory sensory evaluation was performed. The results show that the stability to cooking, expressible moisture, hardness and cohesion increased during storage in the batters inoculated with the 2 strains of LAB. The LAB increased in the inoculated meat batters and the coliforms decreased overall, when the strain mixture was used, the inhibition was total at day 6. Sensory analysis showed that judges detect when E. faecium are inoculated. Thermotolerant BALs can be used as functional ingredients in meat batters and improve physical-chemical and microbiological characteristics.

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.

Options to Injustice: The Battered Woman.

Science.gov (United States)

Fine, Michelle

Cultural heritage, societal values, role expectations, the legal system, and sex stereotyping are examples of the multi-level collusion of forces which keep victims of domestic violence from challenging the legitimacy of the abusive behavior. Powerless subjects of injustice, specifically battered women, who are eager to maintain high self-regard…

Do cultural differences influence batterer intervention program outcomes? A studywith Spanish and Latin American offenders

Directory of Open Access Journals (Sweden)

Viviana Vargas

2015-04-01

Full Text Available This study analyzed, first, if there were any differences in attitudes towards partner violence (i.e., perceivedseverity, victim blaming, and acceptability, responsibility attributions, sexism, and risk of recidivismbetween Latin American immigrants and Spanish offenders convicted of intimate-partner violence at thebeginning of a batterer intervention program. Second, differences in the batterer intervention programoutcomes between Spanish and Latin American offenders were explored. The sample consisted of 278batterers (211 Spanish and 67 Latin American who participated in a community-based battererintervention program. Results showed significant differences between Spanish and Latin Americanoffenders in perceived severity, victim blaming, violence against women acceptability, and benevolentsexism. Regarding batterer intervention program outcomes, results showed that despite initial differencesbetween Spanish and Latin American offenders, both groups benefit equally from the intervention.

Effects of rice batter on oil uptake and sensory quality coated fried okra.

Science.gov (United States)

Okra was coated and deep-fat fried with batters of flour sources, including rice flour, a mixture of rice flour, and small amounts of pregelatinized rice flour (PGRF), and, as a control, the traditional wheat flour. The addition of PGRF, up to 8%, enhanced batter viscosity and the coating properties...

Lipid oxidation and volatile production in irradiated raw pork batters prepared with commercial soybean oil containing vitamin E

Energy Technology Data Exchange (ETDEWEB)

Jo, Cheorun; Ahn, D.U.; Byun, M.W. E-mail: mwbyun@kaeri.re.kr

2001-04-01

An emulsion-type raw pork batter was prepared using 10% (meat weight) of backfat or commercial soybean oil enriched with vitamin E to determine the effect of irradiation on lipid oxidation and volatile production during storage. Batters (approximately 100 g) were vacuum- or aerobically packaged and irradiated at 0, 2.5 or 4.5 kGy. Irradiation increased lipid oxidation of aerobically packaged raw pork batters prepared with both backfat and soybean oil. Lipid oxidation of vacuum-packaged pork batters was not influenced by irradiation except for the batter prepared with backfat at day 0. Aerobically packaged batters prepared with soybean oil had lower (P<0.05) TBARS than that with backfat, but vacuum-packaged ones were not different. The sum of volatile compounds with short retention time (<1.80) increased by irradiation, and with storage time except for aerobic packaging at day 7. The amount of total volatile compounds had an increasing trend until day 3, but not at day 7. Irradiation increased the production of total volatile compounds in the batters prepared with soybean oil and vacuum packaged, but irradiation effect on volatile production was not consistent with other treatments.

Lipid oxidation and volatile production in irradiated raw pork batters prepared with commercial soybean oil containing vitamin E

International Nuclear Information System (INIS)

Jo, Cheorun; Ahn, D.U.; Byun, M.W.

2001-01-01

An emulsion-type raw pork batter was prepared using 10% (meat weight) of backfat or commercial soybean oil enriched with vitamin E to determine the effect of irradiation on lipid oxidation and volatile production during storage. Batters (approximately 100 g) were vacuum- or aerobically packaged and irradiated at 0, 2.5 or 4.5 kGy. Irradiation increased lipid oxidation of aerobically packaged raw pork batters prepared with both backfat and soybean oil. Lipid oxidation of vacuum-packaged pork batters was not influenced by irradiation except for the batter prepared with backfat at day 0. Aerobically packaged batters prepared with soybean oil had lower (P<0.05) TBARS than that with backfat, but vacuum-packaged ones were not different. The sum of volatile compounds with short retention time (<1.80) increased by irradiation, and with storage time except for aerobic packaging at day 7. The amount of total volatile compounds had an increasing trend until day 3, but not at day 7. Irradiation increased the production of total volatile compounds in the batters prepared with soybean oil and vacuum packaged, but irradiation effect on volatile production was not consistent with other treatments

Effect of Pre-gelatinized Wheat Starch on Physical and Rheological Properties of Shortened Cake Batter and Cake Texture

Directory of Open Access Journals (Sweden)

F. Ebrahimi

2016-10-01

Full Text Available The focus of this study was the effect of 1.5%, 3% and 4.5% pre-gelatinized wheat starch (based on the total weight of cake batter on improving the qualitative properties of shortened cake batter. Specific volume and viscosity of the shortened cake batter were measured for controls, 1.5%, 3% and 4.5% gelatinized starch; some important properties such as texture and sensory evaluation were examined. By increasing pre-gelatinized wheat starch used in the batter, a significant difference was observed in the rheological properties of the batter. Cake batter properties were found improved compared to the control samples. The sample with 3% pre-gelatinized starch had a lower viscosity than other treatments. The treatment with 4.5% pre-gelatinized starch had the lowest specific volume compared to other treatments. The overall results showed that the shortened cake with 3% pre-gelatinized starch was the best treatment in terms of texture and sensory evaluation factors.

Bio-fortification and shelf-life extension of idli batter using curry leaves (Murraya koenigii).

Science.gov (United States)

Chelliah, R; Ramakrishnan, S R; Premkumar, D; Antony, U

2016-06-01

Among several traditional foods of India, idli is one of the most popular and commonly consumed steamed products. A new method of adding Murraya koenigii (curry leaves) to idli batter as a vehicle for fortification and extension of shelf-life has been developed. Dried curry leaves powder was incorporated with other ingredients like rice and dehusked black gram in different proportions to optimize the most palatable formulation. Rate of fermentation and microbial changes in the batter; nutritional qualities, texture and sensory properties of the prepared product were assessed. Incorporation of curry leaves powder (5 %) in idli batter increased the shelf-life and also increased the flavour, texture and appearance of the idli. The calcium content of the prepared idli was 10 times more than that of the control idli, while dietary fiber content increased by 18.6 %. Anti-microbial activity of the curry leaves in idli batter extended the shelf-life from 2 to 5 days when stored at 30 °C.

Suspicious scars: physical child abuse vs Ehlers-Danlos syndrome.

Science.gov (United States)

Vadysinghe, Amal Nishantha; Wickramashinghe, Chatula Usari; Nanayakkara, Dineshi Nadira; Kaluarachchi, Chandishni Ishara

2018-01-01

Child abuse is a sensitive topic among many medical practitioners and the diagnosis of this entity requires awareness about conditions which can mimic physical child abuse. Here, the authors present a case of a 13-year-old school non-attendee who was referred due to multiple scars, over areas prone to accidental as well as non-accidental injury, who underwent medicolegal examination due to suspicion of physical child abuse. On further inquiry, it was discovered that she had easy bruising and poor wound healing. A diagnosis of Ehlers-Danlos syndrome was established and physical child abuse was excluded. This case emphasizes the importance of identifying conditions which may confound the diagnosis of physical child abuse. This is of utmost importance in avoiding adverse legal and psycho-social implications on the child, family and society.

Effect of egg freshness on texture and baking characteristics of batter systems formulated using egg, flour and sugar.

Science.gov (United States)

Xing, Liting; Niu, Fuge; Su, Yujie; Yang, Yanjun

2016-04-01

The aim of this work was to evaluate the effects of egg freshness on baking properties and final qualities in batter systems. Batters were made with eggs of different freshness, and the properties of batter systems were studied through rheological analysis, rapid viscosity analysis (RVA), differential scanning calorimetry (DSC), batter density and expansion rate during the baking and cooling processes. Moreover, the qualities of final baked systems were investigated, including specific volume and texture profile analysis (TPA). The flow behavior of batters showed that the consistency index (K) decreased as the Haugh unit (HU) value decreased, while the flow behavior index (n) increased. Both the storage modulus (G') and loss modulus (G″) determined by mechanical spectra at 20 °C decreased with decreasing HU. RVA and DSC determinations revealed that lower-HU samples had a lower viscosity in the baking process and a shorter time for starch gelatinization and egg protein denaturation. Observation of the batter density revealed an increasing change, which was reflected by a decrease in the specific volume of final models. TPA showed significant differences in hardness and chewiness, but no significant differences in springiness and cohesiveness were found. The egg freshness affected the properties of batter systems. © 2015 Society of Chemical Industry.

Breaking the silence. Battered women's perspectives on medical care.

Science.gov (United States)

Rodriguez, M A; Quiroga, S S; Bauer, H M

1996-03-01

To determine the barriers to identification and management of domestic violence from the battered women's perspective. Qualitative research methods using semistructured focus groups. Urban and suburban community-based organizations serving women and their families in the San Francisco Bay (Calif) area. Fifty-one women with histories of domestic violence comprised eight focus groups divided as follows: two groups of Latino (n=14), two groups of white (n=14), Asian (n=14), and two groups of African-American (n=9) women. Participants from all ethnic groups identified major factors that affect identification and management of battered women in the health care setting. Factors that interfere with patient disclosure included threats of violence from the partner, embarrassment, adherence to gender roles, concerns about police involvement and lack of trust in the health care provider. One factor that predisposed a woman to seek help from providers was a need for the providers to exhibit compassion, awareness, and respect for the patient's need to make the final decisions about her situation. Most participants said that providers should take the initiative to ask directly about domestic violence, establish a supportive patient-provider relationship, and refer battered women to available community resources. The major institutional barriers to using the health care system included the high cost of medical care and long waiting periods. Many battered women experience social, institutional, and provider barriers to obtaining help from the health care system for problems related to domestic violence. Providers as well as institutions can overcome these barriers through an understanding of the social context of domestic violence and the victim's needs. Identification may be improved through a trusting patient-provider relationship and by direct questioning about domestic violence.

Arteriohepatic Dysplasia (Alagille Syndrome in a Child (Clinical Case

Directory of Open Access Journals (Sweden)

Ye.V. Omelchenko

2015-03-01

Full Text Available The article presents a clinical case of a child with a rare nosology — Alagille syndrome. Among the causes of neonatal cholestasis, Alagille syndrome is ranked second, it occurs with an incidence of 1 per 70,000 of newborns. This syndrome is characterized by an insufficient number or by a small dia­meter of intrahepatic bile ducts, which carry bile from the liver. Alagille syndrome includes a combination of at least three of the five main symptoms: chronic cholestasis, cardiovascular defects, abnormalities of the spine, eye defects, typical craniofacial signs. The only definitive therapy with the formation of liver cirrhosis and without gross defects is liver transplantation.

Lipid and cholesterol oxidation, color changes, and volatile compounds production in irradiated raw pork batters with different fat content

International Nuclear Information System (INIS)

Jo, Cheo Run; Byun, Myung Woo

2000-01-01

An emulsion-type product was prepared to determine the effect of irradiation on lipid and cholesterol oxidation, color change, and volatile production in raw pork with different fat content. Lipid oxidation increased with an increase in fat content or irradiation dose. Irradiated batters had higher cholesterol oxides than did non-irradiated batters, and the major cholesterol oxides formed in irradiated pork batters were 7α- and 7β- hydroxycholesterol. Hunter color a- and b-values of raw pork batters were decreased by irradiation regardless of fat content. Irradiation significantly increased the amount of volatile compounds. Although lipid oxidation of high fat products (10 and 15% fat) was higher than that of low fat products (4%), high fat products did not always produce greater amount of volatile compounds in raw pork batters. In summary, irradiation increased lipid and cholesterol oxidation, and volatile compounds production, and had detrimental effects on the color of raw pork batter under aerobic conditions

Adrenal insufficiency in a child with MELAS syndrome.

Science.gov (United States)

Afroze, Bushra; Amjad, Nida; Ibrahim, Shahnaz H; Humayun, Khadija Nuzhat; Yakob, Yusnita

2014-11-01

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) are established subgroups of mitochondrial encephalomyopathy. m.3243A>G a common point mutation is detected in tRNA in majority of patients with MELAS phenotype whereas m.8344A>G point mutation in tRNA is observed, in MERRF phenotype. Adrenal insufficiency has not been reported in mitochondrial disease, except in Kearns-Sayre Syndrome (KSS), which is a mitochondrial deletion syndrome. We report an unusual presentation in a five year old boy who presented with clinical phenotype of MELAS and was found to have m.8344A>G mutation in tRNA. Addison disease was identified due to hyperpigmentation of lips and gums present from early childhood. This is the first report describing adrenal insufficiency in a child with MELAS phenotype. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics.

Science.gov (United States)

Wulffaert, Josette; Scholte, Evert M; Dijkxhoorn, Yvette M; Bergman, Jorieke E H; van Ravenswaaij-Arts, Conny M A; van Berckelaer-Onnes, Ina A

2009-08-01

This study investigates the parental perception of stress related to the upbringing of children with CHARGE syndrome and its association with behavioral and physical child characteristics. Parents of 22 children completed the Nijmegen Parenting Stress Index-Short, Developmental Behavior Checklist, and Dutch Vineland Screener 0-12 and reported their child's problems with hearing, vision and ability to speak. Parenting stress was high in 59% of the subjects. Behavioral problems on the depression, autism, self-absorbed and disruptive behavior scales correlated positively with parenting stress. A non-significant trend was found, namely higher stress among the parents of non-speaking children. No associations were found with other child characteristics, i.e. level of adaptive functioning and intellectual disability, auditory and visual problems, deafblindness, gender, and age. Raising a child with CHARGE syndrome is stressful; professional support is therefore essential for this population. More research into other possible influencing characteristics is needed to improve family-oriented interventions. Since CHARGE is a rare syndrome, closer international collaboration is needed, not only to expand the group of study subjects to increase statistical power, but also to harmonize research designs and measurement methods to improve the validity, the reliability, and the generalization of the findings.

The Social Construction of Wife Battering.

Science.gov (United States)

Hepworth, H. Philip

The surfacing of battered wives as a specific problem comes out of the many social changes occurring in Britain and many other countries in the 1960's. It comes in part from the growing number of marriages, the peaking of the baby boom in 1959, a decrease in family size, and a steady growth in female labor force participation. Importantly, women's…

Responsible Mothers and Invisible Men: Child Protection in the Case of Adult Domestic Violence.

Science.gov (United States)

Edelson, Jeffrey L.

1998-01-01

This commentary identifies critical issues regarding social interventions with families in which both child maltreatment and woman battering are suspected. Addresses several common assumptions of service providers and suggests changes in current practice. (Author)

Peculiarities of the Inner Maternal Position of Young Child with Down Syndrome

Science.gov (United States)

Inevatkina, Svetlana Eugenevna

2015-01-01

The article studies the dominant role of the child-mother relationships in the development and formation of personality of the infants and young children with Down syndrome. The article contains the information about the distortion of the child-mother relationships which leads to the different disorders of the mental development of a child. The…

Success of behaviour modification in a child with Asperger's syndrome

OpenAIRE

Šteh, Urška

2012-01-01

The topic of this degree dissertation is the success rate of behaviour modification in a child with the autistic spectrum disorder Asperger’s syndrome. I decided to pursue this subject based on my work in a kindergarten, where I became acquainted with a boy with Asperger’s syndrome. The issue I encountered was that I could find no sources where the method of behaviour modification was implemented with persons that have Asperger’s syndrome. For this reason I decided to determine, by using...

Moyamoya disease and sagittal sinus thrombosis in a child with Down's syndrome

International Nuclear Information System (INIS)

Del-Rio Camacho, G.; Leal Orozco, A.; Camino Lopez, M.; Ruiz-Moreno, M.; Perez-Higueras, A.; Al-Assir, I.

2001-01-01

A girl with Down's syndrome, moyamoya disease and sagittal sinus thrombosis is described. She was diagnosed after acute neurological deterioration by MRI and angiography. Recombinant tissue plasminogen activator (r-TPA) was injected locally to recanalise the thrombus. The patient's condition significantly improved and she was discharged. After 2 years of follow-up the child remains asymptomatic. Moyamoya syndrome and cerebral venous thrombosis should not be overlooked as a cause of acute neurological deterioration in a child with Down's syndrome. MRA appears to be a safe and accurate alternative to traditional angiography for the diagnosis of moyamoya disease. Local fibrinolysis with r-TPA is the treatment of choice for cerebral venous thrombosis due to its safety and efficacy. (orig.)

Effect of pre-emulsified sesame oil on physical-chemical and rheological properties of pork batters

Directory of Open Access Journals (Sweden)

Zhuang Li KANG

Full Text Available Abstract Physical-chemical and rheological properties of pork batters as affected by replacing pork back-fat with pre-emulsified sesame oil were investigated. Replacement of pork back-fat with pre-emulsified sesame oil, improved L* value, moisture and protein content, hardness, cohesiveness, and chewiness, declined a* value, fat content and energy, but not affect cooking yield. When used pre-emulsified sesame oil to replace pork back-fat 50%, the sample had the highest L* value and texture. According to the results of dynamic rheological, replaced pork back-fat by pre-emulsified sesame oil increased the storage modulus (G' values at 80 °C, and formed firm gel. The result of Low-field nuclear magnetic resonance (LF-NMR shown that the batters with pre-emulsified sesame oil had higher water holding capacity than the control. Overall, the batters with pre-emulsified sesame oil enabled lowering of fat and energy contents, making the pork batter had better texture.

Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome.

Science.gov (United States)

Runde, Joseph; Rivera-Rivera, Edgardo; Pompeii-Wolfe, Cecelia; Clardy, Christopher; Sentongo, Timothy

2018-05-10

Refeeding syndrome is diagnosed based on the onset of multiple laboratory abnormalities (most commonly hypophosphatemia) and clinical signs in the setting of nutrition rehabilitation of malnourished patients. Because definitions are not uniform, a broad differential diagnosis should always include renal tubular dysfunction. Our report details a 3 year-old child with undiagnosed renal tubular dysfunction who presented with the clinical picture of refeeding syndrome with refractory electrolyte abnormalities. A diagnosis of renal Fanconi syndrome was made after urinalysis that revealed glucosuria and urine electrolyte losses. Thus, urinalysis can aid in making a positive diagnosis of refeeding syndrome. © 2018 American Society for Parenteral and Enteral Nutrition.

Mother-Child Interaction as a Window to a Unique Social Phenotype in 22q11.2 Deletion Syndrome and in Williams Syndrome

Science.gov (United States)

Weisman, Omri; Feldman, Ruth; Burg-Malki, Merav; Keren, Miri; Geva, Ronny; Diesendruck, Gil; Gothelf, Doron

2015-01-01

Mother-child interactions in 22q11.2 Deletion syndrome (22q11.2DS) and Williams syndrome (WS) were coded for maternal sensitivity/intrusiveness, child's expression of affect, levels of engagement, and dyadic reciprocity. WS children were found to express more positive emotions towards their mothers compared to 22q11.2DS children and those with…

Effect of Gradual Heating and Fat/Oil Type on Fat Stability, Texture, Color, and Microstructure of Meat Batters.

Science.gov (United States)

Barbut, S; Youssef, M K

2016-09-01

The effects of endpoint cooking temperature (40, 50, 60, 70, 80, and 90 °C) on emulsion stability, texture, color, and microstructure of meat batters prepared with different fats/oils were studied. Canola oil treatments showed the highest cooking loss whereas hydrogenated palm oil provided the most stable meat batters. Rendered beef fat was less stable than regular beef fat. Increasing endpoint cooking temperatures resulted in a progressive reduction of water holding capacity in all treatments. As temperature was raised, meat batters showed higher hardness and cohesiveness values, but no appreciable changes in cohesiveness above 60 °C. Canola and hydrogenated palm oil treatments showed the highest hardness and chewiness values. Lightness (L(*) ) values of all meat batters increased significantly with increasing temperature from 40 to 60 or 70 °C; no major changes observed above 70 °C. Light microscopy revealed no substantial changes in the microstructure of all the stable meat batters cooked to between 50 and 70 °C. Heating to 90 °C changed the microstructure in all meat batters except the hydrogenated palm oil treatments, which still showed nonround fat particles and a less aggregated protein matrix. © 2016 Institute of Food Technologists®

Bat Dynamics of Female Fast Pitch Softball Batters.

Science.gov (United States)

Messier, Stephen P.; Owen, Marjorie G.

1984-01-01

Female fast pitch softball batters served in an examination of the dynamic characteristics of the bat during the swing through the use of three-dimensional cinematographic analysis techniques. These results were compared with those from previous studies of baseball batting. Findings are listed. (Author/DF)

Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child

Directory of Open Access Journals (Sweden)

Cresio Alves

2013-01-01

Full Text Available Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response to pancreatic enzymes. Three sweat tests were negative. At the age of 5 years, he began to experience pain in the lower limbs, laxity of joints, lameness and frequent falls. A radiological study revealed metaphyseal chondrodysplasia. A complete blood cell count showed leukopenia (leukocytes: 3.1-3.5 x 103/µL, neutropenia (segmented neutrophils: 15-22%, but normal hemoglobin, hematocrit and platelet count. A molecular study revealed biallelic mutations in the Shwachman-Bodian-Diamond Syndrome gene (183-184TA-CT K62X in exon 2 and a 258+2T-C transition confirming the diagnosis of Shwachman-Diamond Syndrome. A non-pathologic, silent nucleotide A to G transition at position 201 was also found in heterozygosis in the Shwachman-Bodian-Diamond Syndrome gene. This is the first report to describe a Brazilian child with molecular diagnosis of Shwachman-Diamond Syndrome, a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, intermittent or persistent neutropenia and skeletal changes. Other characteristics include immune system, hepatic and cardiac changes and predisposition to leukemia. Recurrent bacterial, viral and fungal infections are common. The possibility of Shwachman-Diamond Syndrome should be kept in mind when investigating children with a diagnosis of cystic fibrosis and normal sweat tests.

Fat cell rupture in a comminuted meat batter as a determinative factor of heat stability

NARCIS (Netherlands)

Tinbergen, B.J.; Olsman, W.J.

1979-01-01

A method was developed for the selective extraction of fat from ruptured fat cells in comminuted sausage batters. It was found that over a wide range of chopping temperatures (4–28°C) the level of extractable fat in an unheated meat batter is significantly correlated (P < 0.001) with the percentage

Lesch-nyhan syndrome in an Indian child

Directory of Open Access Journals (Sweden)

Priyanka Chandekar

2015-01-01

Full Text Available Hypoxanthine guanine phosphoribosyl transferase-1 (HGPRT-1 leading to Lesch-Nyhan syndrome (LNS is one of the important causes of self-mutilation. Hereby, we report a case of LNS in a three and half-year-old male child, who presented with characteristic self-mutilating behavior. He had history of developmental delay, difficulty in social interaction, attention deficit and features of autism. His serum blood biochemistry was normal except for low hemoglobin levels and raised serum uric acid levels. With a diagnosis of LNS, the child was treated with allopurinol. With various modalities of physical restraint, his self-mutilating behavior came under control and currently the patient is being followed up.

Syndromic analysis in child neuropsychology: A case study

Directory of Open Access Journals (Sweden)

Solovieva Yu.

2017-12-01

Full Text Available Background. Neuropsychology is a science with its own specific concepts, terms, and methods of analysis of disturbances in psychological development. One of the essential concepts of neuropsychological methodology, according to A.R. Luria, is that of a neuropsychological syndrome, which takes into account both the functional organization of the brain and the behavioral system. However, this concept isn’t mentioned in the majority of his publications, and thus is not well known by neuropsychologists. There is no clear understanding of this concept within the works of modern neuropsychologists. This omission has a strong influence on the way analysis and interpretation of developmental difficulties is carried out today. Objective. The objective of this study is to present an example of the successful application of qualitative syndromic analysis to the case of a Mexican preschool child with developmental problems and learning disabilities. Design. The clinical analysis was applied to the case of a 6 year old girl with learning disabilities, whose difficulties had been attributed primarily to a low level of general brain activation. Results. The authors assert that the advantages of A.R. Luria’s syndromic approach to clinical cases of difficulties in development and learning disabilities, are that it opens up the potential for finding the general causes on different levels: neuronal maturation, brain mechanisms, activity and personality. Conclusion. The authors conclude that the topic of syndromic analysis in child neuropsychology requires further scientific discussion. The necessity for revising levels of analysis of clinical cases should be taken in account.

Chronic type B aortic dissection in association with Hemolyticuremic syndrome in a child

OpenAIRE

Gera, D. N.; Ghuge, P. P.; Gandhi, S.; Vanikar, A. V.; Shrimali, J. D.; Kute, V. B.; Trivedi, H. L.

2013-01-01

Aortic dissection (AD) is a potentially life-threatening medical emergency usually encountered in the elderly. Here, we report a 9-year-old child who was incidentally detected to have asymptomatic chronic type B dissecting aneurysm of aorta when he presented with relapse of Hemolytic uremic syndrome (HUS) without any genetic abnormalities like Marfan or Ehler-Danlos syndrome. To the best of our knowledge, this is the first case of AD associated with HUS in a child without any known associated...

Factors that influence on the decisions of battered women

Directory of Open Access Journals (Sweden)

Juana Robledo Martín

2008-01-01

Full Text Available Violence towards and against women consists in any kind of violation of woman’s personality, her physical integrity or her freedom of movement. Nowadays, gender-based violence is considered a state and public health problem as well as a social concerning subject.Objective: To identify the factors that influence on the decisions that battered women make.Methodology: The study population are battered women who live in Madrid province and who are being attended in the Municipal Points of the Regional Observatory against the Gender Violence.The information was collected by performing focus groups and deep interviews.Results: There are several factors which influence on the decisions that battered women make, like the existence or not of children they have to take care of, the economic dependence and the ignorance of the woman, in some cases, of the existence of this ill-treatment, but over all, we could even say beyond all these, there is one that is the most important, common and we could say it is the main axis that determine their behaviour. This factor is fear.Discussion: When attending these women we may be aware of the psychological situation they are, and we should be able to identify if the woman is asking us for help when she comes to us and try to identify and treat this factor that influences the decisions the woman we attend makes.

Maternal risk factors predicting child physical characteristics and dysmorphology in fetal alcohol syndrome and partial fetal alcohol syndrome.

Science.gov (United States)

May, Philip A; Tabachnick, Barbara G; Gossage, J Phillip; Kalberg, Wendy O; Marais, Anna-Susan; Robinson, Luther K; Manning, Melanie; Buckley, David; Hoyme, H Eugene

2011-12-01

Previous research in South Africa revealed very high rates of fetal alcohol syndrome (FAS), of 46-89 per 1000 among young children. Maternal and child data from studies in this community summarize the multiple predictors of FAS and partial fetal alcohol syndrome (PFAS). Sequential regression was employed to examine influences on child physical characteristics and dysmorphology from four categories of maternal traits: physical, demographic, childbearing, and drinking. Then, a structural equation model (SEM) was constructed to predict influences on child physical characteristics. Individual sequential regressions revealed that maternal drinking measures were the most powerful predictors of a child's physical anomalies (R² = .30, p < .001), followed by maternal demographics (R² = .24, p < .001), maternal physical characteristics (R²=.15, p < .001), and childbearing variables (R² = .06, p < .001). The SEM utilized both individual variables and the four composite categories of maternal traits to predict a set of child physical characteristics, including a total dysmorphology score. As predicted, drinking behavior is a relatively strong predictor of child physical characteristics (β = 0.61, p < .001), even when all other maternal risk variables are included; higher levels of drinking predict child physical anomalies. Overall, the SEM model explains 62% of the variance in child physical anomalies. As expected, drinking variables explain the most variance. But this highly controlled estimation of multiple effects also reveals a significant contribution played by maternal demographics and, to a lesser degree, maternal physical and childbearing variables. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Chronic type B aortic dissection in association with Hemolyticuremic syndrome in a child.

Science.gov (United States)

Gera, D N; Ghuge, P P; Gandhi, S; Vanikar, A V; Shrimali, J D; Kute, V B; Trivedi, H L

2013-11-01

Aortic dissection (AD) is a potentially life-threatening medical emergency usually encountered in the elderly. Here, we report a 9-year-old child who was incidentally detected to have asymptomatic chronic type B dissecting aneurysm of aorta when he presented with relapse of Hemolytic uremic syndrome (HUS) without any genetic abnormalities like Marfan or Ehler-Danlos syndrome. To the best of our knowledge, this is the first case of AD associated with HUS in a child without any known associated genetic or inherited risk factors.

Successful airway management with King Vision device in a child with Morquio syndrome: case report

Directory of Open Access Journals (Sweden)

Lina Maritza Guerra

2017-09-01

Full Text Available Morquio syndrome also called type IV mucopolysaccharidosis, is a condition produced by lysosomal deposit. Morquio syndrome have several implications in the airway management because is characterized by C1-C2, instability, short height, cervical spine instability, odontoid hypoplasia, and Pectus carinatum, this, in addition to airway anatomy distortion. Case summary: This is a case report of successful airway management with video laryngoscopy of a child whit anticipated difficult airway whit Morquio syndrome. Conclusion: The video laryngoscopes are a good choice for management of anticipated difficult airway in child patients.

Effect of chopping time and heating on 1 H nuclear magnetic resonance and rheological behavior of meat batter matrix.

Science.gov (United States)

Zhou, Fen; Dong, Hui; Shao, Jun-Hua; Zhang, Jun-Long; Liu, Deng-Yong

2018-04-01

The effect of chopping time and heating on physicochemical properties of meat batters was investigated by low-field nuclear magnetic resonance and rheology technology. Cooking loss and L* increased while texture profile analysis index decreased between chopping 5 and 6 min. The relaxation time T 21 (bound water) and its peak area ratio decreased, while the ratio of T 22 peak area (immobilized water) in raw meat batters gradually increased with the extension of chopping time. However, T 22 was opposite after being heated and a new component T 23 (free water) appeared (T 2i is the spin - spin relaxation time for the ith component.). The initial damping factor (Tan δ) gradually decreased and there were significant difference between 4 and 5 min of chopping time. There were significantly positive correlations between the ratio of peak area of T 22 and chopping time, the storage modulus (G'), cooking loss, and L*, respectively. Continued chopping time could improve the peak area proportion of T 22 in raw meat batters. Further, the higher the peak area proportion of T 22 in raw meat batters, the cooking loss of heated meat gel was higher. Also, the stronger the mobility of immobilized water in meat batter, the higher the L* of the fresh meat batters. Thus, it is revealed that the physicochemical properties of meat batter are significantly influenced by chopping time which further affects the water holding capacity and the texture of emulsification gel. © 2017 Japanese Society of Animal Science.

Chronic type B aortic dissection in association with Hemolyticuremic syndrome in a child

Directory of Open Access Journals (Sweden)

D N Gera

2013-01-01

Full Text Available Aortic dissection (AD is a potentially life-threatening medical emergency usually encountered in the elderly. Here, we report a 9-year-old child who was incidentally detected to have asymptomatic chronic type B dissecting aneurysm of aorta when he presented with relapse of Hemolytic uremic syndrome (HUS without any genetic abnormalities like Marfan or Ehler-Danlos syndrome. To the best of our knowledge, this is the first case of AD associated with HUS in a child without any known associated genetic or inherited risk factors.

Phenobarbital induced Stevens–Johnson syndrome in a child

OpenAIRE

Gaur, Sumit; Agnihotri, Rupali

2012-01-01

Phenobarbital, an antiepileptic agent has numerous adverse reactions including Stevens- Johnson syndrome (SJS), a rare medical emergency. A 12-year-old male epileptic child with phenobarbital-induced SJS was referred for the management of severe pain in relation to extensively decayed molar tooth and oral mucosal ulcerations. The patient was managed by withdrawal of phenobarbital and palliative treatment of the lesions.

Behavioral and emotional manifestations in a child with Prader-Willi syndrome.

Science.gov (United States)

Mohapatra, Satyakam; Panda, Udit Kumar

2016-04-25

Prader-Willi syndrome is a neurodevelopmental disorder characterized by mental retardation and distinct physical, behavioral, and psychiatric features. Maladaptive behaviours, cognitive impairment, and impediments in speech and language seriously affect the early development and long-term functioning of individuals affected by the illness. We present a case of a 9-year-old child with Prader-Willi syndrome whose behavioural symptoms were treated with low-dose antipsychotic medications.

Family functioning in families with a child with Down syndrome: a mixed methods approach.

Science.gov (United States)

Povee, K; Roberts, L; Bourke, J; Leonard, H

2012-10-01

This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design. The quantitative component examined the effect of maladaptive and autism-spectrum behaviours on the functioning of the family while the qualitative component explored the impact of having a child with Down syndrome on family holidays, family activities and general family functioning. Participants in this study were 224 primary caregivers of children with Down syndrome aged 4-25 years (57.1% male; 42.9% female) currently residing in Western Australia (74.0% in metropolitan Perth and 26.0% in rural Western Australia). Maladaptive and autism-spectrum behaviour were associated with poorer family functioning. Mean total scores on the measures of family functioning and marital adjustment were comparable to that of families of typically developing children. Consistent with the quantitative findings, normality was the most common theme to emerge in the qualitative data. Child problem behaviours were also identified by parents/carers as having a negative impact on the family. This study has implications for the development of programs to support families with a child with Down syndrome and may dispel some of the myths surrounding the impact of intellectual disability on the family. © 2012 The Authors. Journal of Intellectual Disability Research © 2012 Blackwell Publishing Ltd.

Masseter Muscle Hypertrophy and Pericardial Effusion in Kocher-Debre-Semelaigne Syndrome Child

Directory of Open Access Journals (Sweden)

Taksande AM

2015-10-01

Full Text Available Muscular pseudohypertrophy associated with severe congenital hypothyroidism has been described as Kocher Debre Semelaigne syndrome, which is a rare disorder. We report a case of 9year old female child with hypothyroidism, limb muscular pseudo-hypertrophy with involvement of masseter muscle along with pericardial effusion in Kocher-Debré-Semelaigne syndrome.

Testing the 8-syndrome structure of the child behavior checklist in 30 societies

DEFF Research Database (Denmark)

Ivanova, Masha Y; Dobrean, Anca; Dopfner, Manfred

2007-01-01

There is a growing need for multicultural collaboration in child mental health services, training, and research. To facilitate such collaboration, this study tested the 8-syndrome structure of the Child Behavior Checklist (CBCL) in 30 societies. Parents' CBCL ratings of 58,051 6- to 18-year-olds ...

Violence against children in Nigeria: Child battering in focus ...

African Journals Online (AJOL)

Violence against children is increasing gaining momentum every day. In the society, the perpetrators are regrettably those who ordinarily should protect the interest of the child; these include parents, guardians, teachers, friends, and elders in the society. In Nigeria, parents and guardians have the rights to exercise control ...

The Role of Insecure Attachment and Gender Role Stress in Predicting Controlling Behaviors in Men Who Batter

Science.gov (United States)

Mahalik, James R.; Aldarondo, Etiony; Gilbert-Gokhale, Steven; Shore, Erika

2005-01-01

The authors hypothesized that masculine gender role stress would mediate the relationship between insecure attachment and controlling behaviors in a sample of men who batter. To examine this hypothesis, 143 men who were court mandated to attend a batterers' intervention program in a northeastern state completed measures including the Controlling…

Waardenburg-Shah Syndrome: a rare case in an Indian child.

Science.gov (United States)

Pattebahadur, Rajesh; Singhi, Shipra; Maharana, Prafulla Kumar

2016-09-30

A 7-year-old male child presented with a history of discolouration of right eye since birth. On examination visual acuity was 6/6 on Snellen's chart in both eyes; anterior segment was within normal limits except for the brilliant blue discolouration of the inferior quadrant and superior quadrant of right iris and left eye iris, respectively. Both eyes had a clear lens and fundus findings were within normal limits. A detailed history from parents revealed that the child had difficulty in hearing and slurring of speech. In addition, the child had repeated episodes of constipation with bilious vomiting during infancy for which a diagnosis of fungal sepsis with Hirschsprung's disease was made and the child had to undergo a mid-sigmoid loop colostomy for that. A diagnosis of Waardenburg--Shah Syndrome was made and the child was referred for hearing and speech rehabilitation. 2016 BMJ Publishing Group Ltd.

Genetic syndromes in the family : child characteristics and parenting stress in Angelman, CHARGE, Cornelia de Lange, Prader-Willi, and Rett syndrome

NARCIS (Netherlands)

Wulffaert, Josette

2010-01-01

Aim of the dissertation: To expand the knowledge on the behavioural phenotypes, level of parenting stress and the relationship between child characteristics and parenting stress in five genetic syndromes. The included syndromes are Angelman, CHARGE, Cornelia de Lange, Prader-Willi, and Rett

Subtypes of batterers in treatment: empirical support for a distinction between type I, type II and type III.

Directory of Open Access Journals (Sweden)

José Luis Graña

Full Text Available This study explores the existence of different types of batterers in a sample of 266 men who had been court referred for intimate partner violence. The data collected in the assessment that have been used to perform a hierarchical and a two-step cluster analysis fall into three areas: aggression towards the partner, general aggression and presence of psychopathology and personality traits, more specifically, alcohol use, borderline and antisocial personality traits, psychopathy traits, state anger and trait anger, anger expression and control, anger, hostility, and, finally, impulsivity. The results show a typology consisting of 3 types of batterers on the basis of violence level and psychopathology: low (65%, moderate (27.8% and high (7.1%. This study provides empirical support for the development of batterer typologies. These typologies will help achieve early detection of different types of batterers, allowing us to tailor interventions on the basis of the needs of each of the types.

Case report of sudden death in a child with Williams syndrome ...

African Journals Online (AJOL)

A two year old child, confirmed with Williams syndrome (WS) ... and no relevant cardiac history such as chest pain or episodes ... brain, abdominal and pelvic organ blocks. .... a fully functional operating theatre complex presents a number.

Suspicion of the battered child’s syndrome – apaediatrician’s nightmare?

Directory of Open Access Journals (Sweden)

Magdalena Czerżyńska

2015-12-01

Full Text Available Child abuse may occur across all cultural, social and ethnic groups. Children may be abused by adults, adolescents, their own peers, and institutional workers alike. Whenever a suspicion arises concerning violence or other kind of abuse being possibly inflicted on a child, immediate thorough medical investigation is absolutely essential, and the child’s behaviour, appearance and development evaluated. Multispecialist diagnostics may be necessary, including the available imaging modalities. Abuse symptoms include abnormal patterns of child’s and parents’ behaviour, explanations concerning the injuries that are inconsistent with the actual clinical picture, delay in seeking medical attention, parents ignoring or downplaying the child’s injuries, seemingly strained relations between parents and the child. Parental attitudes that may be indicative of child abuse tend to be a result of alcohol dependence, drug addiction, or a deviation. At times, aggression or particular strictness towards the child may be observed. Whenever sexual or physical abuse is suspected, the child should immediately be referred to a hospital for further observation and accessory investigations. Relevant institutions should also be contacted and collaborated with. Child abuse seems to be on the rise, with more cases each year. Simultaneously, various social measures are undertaken aimed at ensuring assistance to the victims, and counteracting violence and abuse. It should be remembered that the treating doctor is obliged to report a suspicion of abuse taking place to the relevant authorities immediately upon taking its suspicion.

MR imaging evaluation of subdural hematomas in child abuse

International Nuclear Information System (INIS)

Hay, T.C.; Rumack, C.M.; Horgan, J.G.; Hyden, P.; Krugman, R.

1988-01-01

MR imaging is the most accurate modality for determining the presence, number, and aging of subdural hematomas. Based on seven patients studied with CT and MR imaging, MR imaging should be the gold standard in child abuse evaluations. Since the history of child abuse is often ambiguous, MR imaging can assist in dating when the injury occurred. MR imaging in two perpendicular planes is needed, with one plane having both T1- and T2-weighted sequences. Chronic subdural hematomas on CT often have the same density as cerebrospinal fluid and may be misdiagnosed as atrophy or unrecognized. Therefore, the child may be returned into a dangerous situation and subjected to recurrent episodes of battering

Primary antiphospholipid antibody syndrome with adrenal hemorrhage in a child : a case report

Energy Technology Data Exchange (ETDEWEB)

Kim, Dong Hun; Lee, Soo Hyun; Kim, Hyun Joo; Yoo, Han Wook; Yoon, Chong Hyun [Ulsan Univ. College of Medicine, Seoul (Korea, Republic of)

1999-11-01

Primary antiphospholipid antibody syndrome is a disease that is clinically diagnosed if a patient suffers recurrent thromboses, stroke, recurrent fetal loss, livedo reticularis, and thrombocytopenia, without evidence of systemic lupus erythematosus or other connective diseases. Adrenal hemorrhage in a patient with primary antiphospholipid antibody syndrome is a rarely recognized, but potentially catastrophic disorder. We recently encountered bilateral adrenal hemorrhaging in a child with antiphospholipid antibody syndrome and casem as well as reviewing the literature.

Primary antiphospholipid antibody syndrome with adrenal hemorrhage in a child : a case report

International Nuclear Information System (INIS)

Kim, Dong Hun; Lee, Soo Hyun; Kim, Hyun Joo; Yoo, Han Wook; Yoon, Chong Hyun

1999-01-01

Primary antiphospholipid antibody syndrome is a disease that is clinically diagnosed if a patient suffers recurrent thromboses, stroke, recurrent fetal loss, livedo reticularis, and thrombocytopenia, without evidence of systemic lupus erythematosus or other connective diseases. Adrenal hemorrhage in a patient with primary antiphospholipid antibody syndrome is a rarely recognized, but potentially catastrophic disorder. We recently encountered bilateral adrenal hemorrhaging in a child with antiphospholipid antibody syndrome and casem as well as reviewing the literature

Physical and mental health of mothers caring for a child with Rett syndrome.

Science.gov (United States)

Laurvick, Crystal L; Msall, Michael E; Silburn, Sven; Bower, Carol; de Klerk, Nicholas; Leonard, Helen

2006-10-01

Our goal was to investigate the physical and mental health of mothers who care for a child with Rett syndrome. We assessed maternal physical and mental health by using the SF-12 version 1 physical component summary and mental component summary scores as the outcome measures of interest. Mothers (n = 135) of children with Rett syndrome completed the SF-12 measure as part of the Australian Rett Syndrome Study in 2002. The analysis investigated linear relationships between physical and mental health scores and maternal, family, and child characteristics. Mothers ranged in age from 21 to 60 years and their children from 3 to 27 years. Nearly half of these mothers (47.4%) indicated that they worked full-time or part-time outside the home, and 41% had a combined family (gross) income of health demonstrated that the following factors were positively associated with better maternal physical health: the mother working full-time or part-time outside the home, having some high school education, having private health insurance, the child not having breathing problems in the last 2 years, the child not having home-based structured therapy, and high scores on the Family Resource Scale (indicating adequacy of time resources for basic and family needs). The resultant model for mental health demonstrated that the following factors were positively associated with better maternal mental health: the mother working full-time or part-time outside the home, the child not having a fracture in the last 2 years, lesser reporting of facial stereotypes and involuntary facial movements, being in a well-adjusted marriage, and having low stress scores. Our study suggests that the most important predictors of maternal physical and emotional health are child behavior, caregiver demands, and family function.

Testing the 8-Syndrome Structure of the Child Behavior Checklist in 30 Societies

Science.gov (United States)

Ivanova, Masha Y.; Dobrean, Anca; Dopfner, Manfred; Erol, Nese; Fombonne, Eric; Fonseca, Antonio Castro; Frigerio, Alessandra; Grietens, Hans; Hannesdottir, Helga; Kanbayashi, Yasuko; Lambert, Michael; Achenbach, Thomas M.; Larsson, Bo; Leung, Patrick; Liu, Xianchen; Minaei, Asghar; Mulatu, Mesfin S.; Novik, Torunn S.; Oh, Kyung Ja; Roussos, Alexandra; Sawyer, Michael; Simsek, Zeynep; Dumenci, Levent; Steinhausen, Hans-Christoph; Metzke, Christa Winkler; Wolanczyk, Tomasz; Yang, Hao-Jan; Zilber, Nelly; Zukauskiene, Rita; Verhulst, Frank C.; Rescorla, Leslie A.; Almqvist, Fredrik; Weintraub, Sheila; Bilenberg, Niels; Bird, Hector; Chen, Wei J.

2007-01-01

There is a growing need for multicultural collaboration in child mental health services, training, and research. To facilitate such collaboration, this study tested the 8-syndrome structure of the Child Behavior Checklist (CBCL) in 30 societies. Parents' CBCL ratings of 58,051 6- to 18-year-olds were subjected to confirmatory factor analyses,…

Roll of the orthopedist in the child abuse

International Nuclear Information System (INIS)

Toro P, Alvaro de Jesus; Lopez C, Meisser A

2005-01-01

Child abuse is an old at the humanity. In agreement with The World Health Organization reports that child abuse is a problem of public health and about 40'000.000 young between 0-14 years old are victims. In Colombia the statistics report battered children in 36% of the homes. The injuries of the osseous system, muscles and soft tissue are often the most evident key therefore we must consider some important signs at the time of evaluating a boy who makes suspect us this suffering. The different studies have reported that the fractures are the second more frequent form of presentation of child abuse. We must worry about this information and opportune way in the early detection of the cases of infantile abuse

The Effect of Fecal Microbiota Transplantation on a Child with Tourette Syndrome

Directory of Open Access Journals (Sweden)

Huijun Zhao

2017-01-01

Full Text Available Tourette syndrome is a neuropsychiatric disorder with onset in childhood. New therapies are needed to effectively manage and treat this condition. Gut microbiota can affect central physiology and function via the microbiota-gut-brain axis. Here, we report a case in which fecal microbiota transplantation (FMT is used to treat a child with Tourette syndrome, whose symptoms ameliorated dramatically in the following eight weeks.

Talking violent. A phenomenological study of metaphors battering men use.

Science.gov (United States)

Eisikovits, Z; Buchbinder, E

1997-10-01

This analysis examined the language and metaphors used by men who perpetrated domestic violence in an attempt to shed light on the impulsive and reflective aspects of violent acts as they appear in the context of batterers' experiences. The study is introduced with a brief review of the literature on "intimate violence" to show that it is recognized that batterers rarely define their behavior as violent and aberrant and that they suffer cognitive distortions and an inability to identify emotions accurately. Data were gathered through in-depth, semistructured interviews with 35 couples in Israel who reported at least one incidence of violence in the prior year. Content analysis of the interviews revealed that the men used 1) war metaphors to construct and express conflict and violence, 2) metaphors that presented the self as a dangerous space characterized by inner struggles, and 3) metaphors of de-escalation and balancing. The discussion notes that the metaphors of war were interconnected (war with the self and with the world) and allowed men to threaten violence as a means of self defense and, paradoxically, to attempt to gain self-control by losing control. For these men, the world was dichotomous and life was a constant struggle against real and imagined enemies. Survival depended upon suppression of feelings of weakness (symbolized by the feminine). Interventions should examine metaphors used by batterers and help men develop an alternative metaphoric structure that renders violence foreign and meaningless. This requires that clinicians first assess their own use of metaphors.

Ellis-van Creveld syndrome in an Indian child: a case report

Energy Technology Data Exchange (ETDEWEB)

Veena, K.M.; Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth [Yenepoya Dental College, Yenepoya University, Mangalore (India)

2011-12-15

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

Ellis-van Creveld syndrome in an Indian child: a case report

International Nuclear Information System (INIS)

Veena, K.M.; Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth

2011-01-01

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

Care demands on mothers caring for a child with Down syndrome: Malaysian (Sarawak) mothers' perspectives.

Science.gov (United States)

Chan, Kim Geok; Lim, Khatijah Abdullah; Ling, How Kee

2015-10-01

This paper examines the experiences of mothers caring for a child with Down syndrome in the Malaysian (Sarawak) context. Qualitative interviews were conducted with 26 biological mothers of children with Down syndrome aged 18 years and below. They were accessed through selected child health clinics, community-based rehabilitation centres and schools using purposive sampling within two regions in Sarawak, one of the two Borneo States of Malaysia. Major themes emerging within the context of care demands were children's health, developmental delays, daily needs and behaviour issues. The insights obtained into the care demands experienced by mothers of children with Down syndrome have several implications for practice by care professionals. © 2014 Wiley Publishing Asia Pty Ltd.

Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics

NARCIS (Netherlands)

Wulffaert, Josette; Scholte, Evert M.; Dijkxhoorn, Yvette M.; Bergman, Jorieke E. H.; van Ravenswaaij-Arts, Conny M. A.; van Berckelaer-Onnes, Ina A.

This study investigates the parental perception of stress related to the upbringing of children with CHARGE syndrome and its association with behavioral and physical child characteristics. Parents of 22 children completed the Nijmegen Parenting Stress Index-Short, Developmental Behavior Checklist,

Unsuspected costo-vertebral fractures demonstrated by bone scanning in the child abuse syndrome

Energy Technology Data Exchange (ETDEWEB)

Smith, F W; Gilday, D L; Ash, J M; Green, M D

1980-01-01

Many patterns of injury have been described in the child abuse syndrome. Until recently, all the bone manifestations of this syndrome have been diagnosed radiologically. Four cases of multiple costovertebral fracture diagnosed by bone scan are described and their etiology discussed. The use of bone scanning in identifying fractures which previously would have been missed is advocated.

Unsuspected costo-vertebral fractures demonstrated by bone scanning in the child abuse syndrome

International Nuclear Information System (INIS)

Smith, F.W.; Gilday, D.L.; Ash, J.M.; Green, M.D.

1980-01-01

Many patterns of injury have been described in the child abuse syndrome. Until recently, all the bone manifestations of this syndrome have been diagnosed radiologically. Four cases of multiple costovertebral fracture diagnosed by bone scan are described and their etiology discussed. The use of bone scanning in identifying fractures which previously would have been missed is advocated. (orig.) [de

Communication Skills of a Child with Down Syndrome at the End of the First Grade of Elementary School

Science.gov (United States)

Ivic, Sonja

2016-01-01

Each case of a child with Down syndrome is specific because it is directly related to the environment the child grows up in, develops, lives and learns. Although many conditions about Down syndrome tend to generalize the condition, particular characteristics are specific and depend on environment. In this respect, such issues must be approached as…

Constructions of Battered Asian Indian Marriage Migrants: The Narratives of Domestic Violence Advocates.

Science.gov (United States)

Kapur, Sonia; Zajicek, Anna

2018-03-01

How are the images of abused South Asian marriage migrants shaped by domestic violence advocates? We explore the social constructions of battered Asian Indian marriage migrants in the victim advocates' narratives. First, we find the narratives both reproduce and challenge the dominant stereotypes, utilizing some individualistic typifications while constructing these images with an understanding of the broader context of battered South Asian women's experiences. Second, depending on the issue (e.g., economic dependence or religion), the advocates paint either a multidimensional or a one-dimensional picture of their clients. We emphasize the need for further intersectional studies of the images of abused immigrants constructed by victim advocates.

Effect of malva nut gum (purified and crude), sodium chloride and phosphate on cooking, texture, colour, rheology and microstructure of different chicken meat batters.

Science.gov (United States)

Barbut, S; Somboonpanyakul, P; Quinton, M; Smith, A

2009-01-01

1. In the first experiment, the effect of adding purified malva nut gum (PMG) to comminuted poultry breast meat batters formulated with different contents of sodium chloride (NaCl; 10 to 30 g/kg) and tripolyphosphate (TPP; 0 and 5 g/kg) was studied. 2. Increasing salt (sodium chloride) content, along with the addition of 1 g/kg PMG, was beneficial in reducing cooking loss. At all salt contents, batters with PMG showed lower springiness than batters without PMG. Adding PMG to the batter with 20 g/kg salt and TPP decreased fracture force, springiness and chewiness. 3. In a second experiment, the effects of PMG (0.0, 3.0 and 6.0 g/kg), crude malva nut gum (CMG; 3.0 g/kg) and TPP (0.0 and 4.0 g/kg) on cooking loss, fat loss, colour, texture, rheology and microstructure of emulsified chicken meat batters were studied. 4. Increasing PMG reduced cooking and fat losses. Adding TPP increased hardness, springiness, cohesiveness and chewiness. The 1.0 g/kg PMG and TPP provided the greatest hardness. The batter with 3.0 g/kg PMG resulted in the lowest lightness (L*) and highest redness (a*). Adding PMG and TPP resulted in stable batters, as was evident by light microscopy results. The rheological evaluation showed the highest G' in the batter with 4.0 g/kg TPP followed in decreasing order by the batters containing TPP plus 3.0 g/kg PMG, TPP plus 1.0 g/kg PMG, 3.0 g/kg PMG, 1.0 g/kg PMG, 3.0 g/kg CMG and the control. 5. Overall, the results are important for developing new applications where malva nut gum can be used to improve yield and stability of meat products.

Phonologic Abilities of a Preschool Child with Prader-Willi Syndrome.

Science.gov (United States)

Dyson, Alice T.; Lombardino, Linda J.

1989-01-01

A case study follows the development of phonologic abilities in a child with Prader-Willi syndrome, during her enrollment in language and phonologic remediation from age 2:7 to 6:1. Changes in her phonetic inventory, in the set of phonemes used correctly, and in phonologic processes are described. (Author/JDD)

Experimental study on performance of laterally loaded plumb and battered piles in layered sand

Directory of Open Access Journals (Sweden)

Bushra S. Albusoda

2017-09-01

Full Text Available This study introduces a series of single and pile group model tests subjected to lateral loads in . multilayered sand from Karbala, Iraq. The aim of this study is to investigate: the performance of the pile groups subjected to lateral loads; in which the pile batter inclination angle is changed; the effect of pile spacing (s/d ratio, the influence of using different number of piles and pile group configuration. Results revealed that the performance of single negative (Reverse Battered piles with inclination of 10° and 20° show a gain of 32% and 76 % in the ultimate lateral capacity over the regular ones. For pile groups, the use of a combination of regular, negative and positive battered piles in different angles of inclination within the same group shows a significant increase in the ultimate lateral load carrying capacity. Increasing the spacing between piles in groups of the same category shows an increase in the group efficiency, also changing the piles number within the group by using different patterns will influence the ultimate lateral resistance of the pile group.

Child-feeding practices in children with down syndrome and their siblings.

Science.gov (United States)

O'Neill, Kristen L; Shults, Justine; Stallings, Virginia A; Stettler, Nicolas

2005-02-01

To compare parental feeding practices and evaluate their relationship to weight status among children with Down syndrome (DS) and their unaffected siblings. Cross-sectional study of sibling pairs, one child with DS (n = 36) and one child without DS (n = 36), between 3 and 10 years of age. Parents completed the Child Feeding Questionnaire (CFQ), which assesses six aspects of control in feeding, separately for each child. Children's height and weight were measured using standard research procedures for calculation of body mass index (BMI) and BMI Z scores (BMIZ). Mean BMIZ was higher among children with DS than their siblings (1.1 +/- 0.9 vs 0.1 +/- 1.1; P child weight status, and lower pressure to eat for children with DS than for their siblings. After adjustment for BMIZ, differences remained significant only for concern (10.6 +/- 3.5 vs 6.4 +/- 3.4; P child overweight and concern were positively associated with BMIZ, whereas pressure was inversely associated with BMIZ. Differences in child-feeding practices may play a role in the development of obesity in DS.

Train of four fade in a child with stiff baby syndrome.

LENUS (Irish Health Repository)

Murphy, C

2012-02-03

A case is described of a child with stiff baby syndrome who underwent open reduction and femoral shortening of congenital dislocated hip under general anaesthesia. Neuromuscular function was measured electromyographically and demonstrated a great degree of train of four fade (57%) after sevoflurane inhalational induction of anaesthesia. The response to suxamethonium (2 mg x kg(-1)) was normal. The neuromuscular response to volatile anaesthetic agents and suxamethonium may be abnormal in these children with stiff baby syndrome and intraoperative neuromuscular monitoring is recommended.

Ramsay Hunt syndrome in a child – case report

Directory of Open Access Journals (Sweden)

Joanna Grabowska

2016-12-01

Full Text Available Introduction. Ramsay Hunt syndrome is a rare disease characterized by complications of herpes zoster oticus. This syndrome is defined by characteristic skin lesions with paresis of the facial and/or vestibulocochlear nerve. Objective. To present a case of a 14-year-old child with Ramsay Hunt syndrome. Case report . A 14-year-old patient was admitted to the Department of Dermatology due to vesicular lesions in the left auricular region. On medical examination, insufficiency of the left eyelid, asymmetry of the facial lines, drooping of the left corner of the mouth, and smoothing of the forehead were observed. According to the House-Brackmann scale, the patient had paresis (grade IV of the facial nerve. The patient was treated with intravenous acyclovir, antibiotics and anti-inflammatory drugs. Supplementation with vitamin B and rehabilitation procedures were also introduced. Conclusions . Ramsay Hunt syndrome is very rare in the pediatric population. It requires interdisciplinary cooperation between doctors. The presented case confirms the validity of therapy with acyclovir and prednisone and rehabilitation.

Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome

Energy Technology Data Exchange (ETDEWEB)

Meyers, Arthur B. [Children' s Hospital of Wisconsin, Department of Radiology, Milwaukee, WI (United States); Nemours Children' s Health System/Nemours Children' s Hospital, Department of Radiology, Orlando, FL (United States); Awomolo, Agboola O. [Children' s Hospital of Wisconsin, Department of Radiology, Milwaukee, WI (United States); Szabo, Sara [Medical College of Wisconsin and Children' s Hospital of Wisconsin, Department of Pathology, Milwaukee, WI (United States); Cincinnati Children' s Hospital Medical Center, Division of Pathology and Laboratory Medicine, Cincinnati, OH (United States)

2017-03-15

Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis. It is important for radiologists to be aware of the association of Noonan syndrome and multifocal giant cell lesions, which can range from the more commonly described giant cell granulomas of the mandible to isolated or multifocal intra- or extra-articular tenosynovial giant cell tumors or a combination of all of these lesions. (orig.)

Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome.

Science.gov (United States)

Meyers, Arthur B; Awomolo, Agboola O; Szabo, Sara

2017-03-01

Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis. It is important for radiologists to be aware of the association of Noonan syndrome and multifocal giant cell lesions, which can range from the more commonly described giant cell granulomas of the mandible to isolated or multifocal intra- or extra-articular tenosynovial giant cell tumors or a combination of all of these lesions.

Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome

International Nuclear Information System (INIS)

Meyers, Arthur B.; Awomolo, Agboola O.; Szabo, Sara

2017-01-01

Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis. It is important for radiologists to be aware of the association of Noonan syndrome and multifocal giant cell lesions, which can range from the more commonly described giant cell granulomas of the mandible to isolated or multifocal intra- or extra-articular tenosynovial giant cell tumors or a combination of all of these lesions. (orig.)

A study of the influence of protective factors as a resource to African American males in traditional batterers' interventions.

Science.gov (United States)

Jones, Norma Gray

2002-01-01

The purpose of this study was to examine the relationship between protective factors and the responses of African American males in traditional batterers' interventions. African American male batterers have been viewed as responding poorly to batterers' interventions and were reported in the literature as at risk for dropout and treatment failure. This research proposed that there were culturally related protective factors that enhanced traditional interventions for African American males, increasing their potential for changing abusive behaviors. This within-group study used secondary data to examine the influence of protective factors on the responses of 268 active duty Navy African American males. They were a sub-sample of 861 males randomly assigned to one of four different interventions for batterers. The interventions included a cognitive behavioral men's group, couple's group, safety and stabilization group, and a control group. Each of their cases had been officially substantiated by the Navy for assault of their spouses. The measures for the protective factors of religion, self-esteem, and family support were drawn from the original study's self-report measurement tool. The results of the statistical analyses were found to be significant. The protective factors performed as social controls for reducing certain types of abusive behaviors. Little research has been conducted on the influence of cultural factors on batterers intervention outcome for African Americans. This study established a strong support for further research.

Stuttering Treatment for a School-Age Child with Down Syndrome: A Descriptive Case Report

Science.gov (United States)

Harasym, Jessica; Langevin, Marilyn

2012-01-01

Background: Little is known about optimal treatment approaches and stuttering treatment outcomes for children with Down syndrome. Aims and method: The purpose of this study was to investigate outcomes for a child with Down syndrome who received a combination of fluency shaping therapy and parent delivered contingencies for normally fluent speech,…

Barriers for administering primary health care services to battered women: Perception of physician and nurses

Directory of Open Access Journals (Sweden)

Eman H. Alsabhan

2011-12-01

Full Text Available Background: Violence against women is an important public-health problem that draws attention of a wide spectrum of clinicians. However, multiple barriers undermine the efforts of primary health care workers to properly manage and deal with battered women. Objectives: The aim of the present study was to reveal barriers that might impede administering comprehensive health care to battered women and compare these barriers between nurses and physicians and identify factors affecting such barriers. Methods: A total of 1553 medical staff from 78 primary health care units agreed to share in this study, of these 565 were physicians and 988 were nurses. Results: Barriers related to the battered woman topped the list of ranks for both physicians (93.1 ± 17.4% and nurses (82.1 ± 29.3%. Institutional barriers (87.2 ± 21.5%, barriers related to the health staff (79.8 ± 20. 5%, and social barriers (77.5 ± 21.7% followed, respectively, in the rank list of physicians while for the list of nurses, social barriers (75.1 ± 30.1%, institutional barriers (74.3 ± 31.7% followed with barriers related to health staff (70.0 ± 30.0% at the bottom of the list. Only duration spent at work and degree of education of nurses were significantly affecting the total barrier score, while these factors had no significant association among physicians. Conclusion: Real barriers exist that might interfere with administering proper comprehensive health care at the primary health care units by both physicians and nurses. This necessitates design of specific programs to improve both the knowledge and skills of the medical staff to deal with violence among women. Also, available resources and infrastructure must be strengthened to face this problem and enable primary health care staff to care for battered women. Keywords: Battered women, Barriers, Physicians, Nurses, Primary health care

Leave or Stay? Battered Women's Decision after Intimate Partner Violence

Science.gov (United States)

Kim, Jinseok; Gray, Karen A.

2008-01-01

Battered women's reasons for staying with or leaving their male partners are varied and complex. Using data from the Domestic Violence Experience in Omaha, Nebraska, a discrete-time hazard model was employed to examine a woman's decision based on four factors: financial independence, witness of parental violence, psychological factors, and the…

The taming of the shrew: batterers' constructions of their wives' narratives.

Science.gov (United States)

Borochowitz, Dalit Yassour

2008-10-01

Constructing a life story is a need shared by all humans to give their lives meaning and coherence. This article explores some of the narrative devices that batterers use to achieve a sense of coherence when telling their stories and justifying their violent behavior. A central theme that emerged from these stories centered on the men's perception of their wives as the embodiment of their own emotions and inner world. Two narrative strategies were identified in this context: (a) The construction of a "couple narrative" that focused on an idealized marital relationship rather than "allowing" the wife her story and (b) constructing a story around the theme of "she's not the same woman I married," which portrays the wife as "a shrew" and the violence as an attempt to discipline her. The stories of 18 batterers were used for this analysis, and two narratives were used to illustrate these strategies.

A child of Williams-Beuren syndrome for inguinal hernia repair: Perioperative management concerns

Directory of Open Access Journals (Sweden)

Sangeeta Deka

2016-01-01

Full Text Available Williams-Beuren syndrome, commonly known as Williams syndrome (WS, is a multi-organ disorder. The principal anomalies of the syndrome are developmental delay, unusual craniofacial dysmorphic features, and cardiovascular anomalies such as valvular or supravalvular aortic stenosis, pulmonary artery stenosis, and coronary insufficiency. Sudden cardiac death during minor procedures even in the absence of gross cardiovascular pathology is the most dreaded complication in these patients. A 7-year-old child with WS was posted for left-sided inguinal hernia repair under general anesthesia. Our article describes the uneventful perioperative course of the patient and highlights the concerns and complications that may be an integral part with the syndrome.

Low-field NMR determination of water distribution in meat batters with NaCl and polyphosphate addition.

Science.gov (United States)

Shao, Jun-Hua; Deng, Ya-Min; Jia, Na; Li, Ru-Ren; Cao, Jin-Xuan; Liu, Deng-Yong; Li, Jian-Rong

2016-06-01

The objective was to elucidate the influence of NaCl and polyphosphates in the stage of protein swelling on the water-holding capacity (WHC) of meat batter. The meat batters were formulated with salt in different ways by adding established amounts of only NaCl, only polyphosphates, jointly adding NaCl and polyphosphates, and a control without any salt. An increase (pwater retention was found when a combination of NaCl and polyphosphates was used. A high textural parameter was observed in the two treatments with NaCl, but not in the group with only polyphosphate. For the polyphosphate group, T22 was lower (pwater, particularly with polyphosphate, but polyphosphate could not be an equal substitute for NaCl given its resulting lowest textural properties and poor microstructure. By presenting different hydration states in the protein swelling stage, the meat batter qualities were differentiated. Copyright © 2016 Elsevier Ltd. All rights reserved.

Symbolic interactionism: a perspective for understanding parent-nurse interactions following the birth of a child with Down syndrome.

Science.gov (United States)

van Riper, M; Pridham, K; Ryff, C

1992-01-01

The birth of a child with Down syndrome is a challenge to parental and societal expectations. Feelings of shock, sadness, confusion, denial, fear, anger, guilt, and helplessness may be evoked. In this paper, the impact of stigma on individuals with Down syndrome and their families will be reviewed to clarify why interactions between parents and others need to be explored. Next, the central concepts important to the symbolic interactionist perspective will be reviewed. Then, qualitative data from an ongoing study of 90 parents of children with Down syndrome (ages 3 months to 18 years) will be presented to illustrate how symbolic interactionism can be applied to the to care of children with Down syndrome and their families. Finally, implications for nurses working with families that include a child with Down syndrome will be addressed.

Physiotherapy and Rehabilitation in a Child with Joubert Syndrome

Directory of Open Access Journals (Sweden)

Özge İpek

2017-01-01

Full Text Available Objective. Joubert syndrome (JS is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods. Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM, whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM. The case was included in the rehabilitation program by the physiotherapist for one hour for five days a week throughout the period of 13 months in accordance with the neurodevelopmental treatment principles. Results. The case was able to turn around from the supine position to the reverse direction by oneself, and she was able to rise on her forearms facedown and was able to sit, crawl, and walk independently. The GMFM score was 210, whereas WeeFIM score was 65. Discussion. In the direction of those findings, in Joubert Syndrome, physiotherapy and rehabilitation can be effective in coping with the symptoms causing developmental delay.

Nephrotic Syndrome in a Child Suffering from Tetralogy of Fallot: A Rare Association

Directory of Open Access Journals (Sweden)

Pépé Mfutu Ekulu

2015-01-01

Full Text Available Nephrotic syndrome is an uncommon complication of tetralogy of Fallot and has been rarely reported in pediatric population. We describe a 4-year-old female Congolese child who was referred for investigation for persistent dyspnea, edema, and cyanosis and nephrotic range proteinuria. Our patient presented with a tetralogy of Fallot and nephrotic syndrome. Conclusion. This case reminds us that children with tetralogy of Fallot may develop nephrotic proteinuria.

Love, discipline, punishment or wife battering: A view from Ubuntu ...

African Journals Online (AJOL)

I shall draw from the philosophy of Ubuntu and the work of French philosopher Michel Foucault. I shall tease out how the elderly perceive wife battering as love, discipline and punishment. Data used in this paper shall be drawn from structured interviews and focus groups that were conducted in 2015 under the auspices of ...

The struggle to address woman battering in Slovakia: stories from service providers.

Science.gov (United States)

Miller, Susan L; Wasileski, Gabriela

2015-06-01

Following the fall of communism, Slovakia found itself in a challenging position: to openly acknowledge the existence of intimate partner violence (IPV) and its disproportionate effect on women and children without an infrastructure to address victim safety, and provide resources and legal help. With collaboration with non-governmental organizations (NGOs), the government responded by developing shelters and introducing legislation that criminalized IPV and created social services for victims. To assess implementation efforts, we conducted in-depth interviews with governmental officials and NGO personnel who provide services for battered women. We focus on the operation and efficacy of shelters to discover what services are most needed for battered women, the criminal justice system's response to IPV, and what long-range goals will facilitate more permanent solutions to the social problem of violence against women in Slovakia. © The Author(s) 2015.

Simultaneous bilateral cochlear implantation in a five-month-old child with Usher syndrome.

Science.gov (United States)

Alsanosi, A A

2015-09-01

To report a rare case of simultaneous bilateral cochlear implantation in a five-month-old child with Usher syndrome. Case report. A five-month-old boy with Usher syndrome and congenital profound bilateral deafness underwent simultaneous bilateral cochlear implantation. The decision to perform implantation in such a young child was based on his having a supportive family and the desire to foster his audiological development before his vision deteriorated. The subject experienced easily resolvable intra- and post-operative adverse events, and was first fitted with an externally worn audio processor four weeks after implantation. At 14 months of age, his audiological development was age-appropriate. Simultaneous bilateral cochlear implantation is possible, and even advisable, in children as young as five months old when performed by an experienced implantation team.

The globalization of behavioral science evidence about battered women: a theory of production and diffusion.

Science.gov (United States)

Gatowski, S I; Dobbin, S A; Richardson, J T; Ginsburg, G P

1997-01-01

A theoretical framework is proposed for understanding how the innovative use of behavioral science evidence is both produced and diffused among members of the global legal community. Using case law analyses and interviews with key individuals involved in selected cases, we examine how battered woman syndrome (BWS) is produced and diffused between and among Australia, Canada, England, and the United States. The following diffusion mechanisms are proposed: (1) The availability and accessibility of credible dissemination sources; (2) characteristics of the overall practice environment operating in each legal culture; (3) the attitudes and knowledge of attorneys and judges about the use of scientific evidence; (4) political and social support for the use of the evidence in the legal culture; and (5) the level of structural equivalence, communication, and "neighbor effects" between and among legal cultures. Each mechanism is discussed and supplemented with information from interviews with individuals involved in key cases involving BWS evidence.

Men battering as the new form of domestic violence? A pastoral care ...

African Journals Online (AJOL)

women by men'. Rather society must appreciate that gender battering is a reality across the gender divide, particularly in the 21st century Africa. In its methodology, the article has engaged a theophilosophical approach that involves a social, ...

Parenting a child at home with hypoplastic left heart syndrome: experiences of commitment, of stress, and of love.

Science.gov (United States)

Cantwell-Bartl, Annie M; Tibballs, James

2017-09-01

To evaluate the experiences of parenting a child with hypoplastic left heart syndrome after the child has been discharged home from hospital. A study of the parents' experiences using face-to-face interviews and psychometric measures with parents whose child had survived stage surgery. Parents were interviewed within the home environment or within the hospital if that was their choice. A total of 29 parents (16 mothers and 13 fathers) of surviving children. Intervention A semi-structured face-to-face interview plus psychometric tests (parent demographics, Maslach Burnout Inventory, Impact on Family Scale, and the Psychological Check List - Civilian). Measurements and main results The parents' experience in supporting a child with hypoplastic left heart syndrome is one of stress, of commitment, and of love. Although parents experienced joy in their child, they were also subjected to anxiety with four parents test positive to post-traumatic stress disorder and hypervigilance while monitoring their child's condition. Parents lived with many difficulties, and demands.

Biogenic amine formation and nitrite reactions in meat batter as affected by high-pressure processing and chilled storage.

Science.gov (United States)

Ruiz-Capillas, C; Aller-Guiote, P; Carballo, J; Colmenero, F Jiménez

2006-12-27

Changes in biogenic amine formation and nitrite depletion in meat batters as affected by pressure-temperature combinations (300 MPa/30 min/7, 20, and 40 degrees C), cooking process (70 degrees C/30 min), and storage (54 days/2 degrees C) were studied. Changes in residual nitrite concentration in raw meat batters were conditioned by the temperature and not by the pressure applied. Cooking process decreased (P nitrite concentration in all samples. High-pressure processing and cooking treatment increased (P nitrite concentration decreased with pressure processing, no effect was observed with the heating process of meat batters. High-pressure processing conditions had no effect on the rate of residual nitrite loss throughout the storage. The application of high pressure decreased (P processing conditions, generally, throughout storage biogenic amine levels did not change or increased, although quantitatively this effect was not very important.

FORMULASI TEPUNG PENYALUT BERBASIS TEPUNG JAGUNG DAN PENENTUAN UMUR SIMPANNYA DENGAN PENDEKATAN KADAR AIR KRITIS [Formulation of Corn Flour-Based Batter and Prediction of Its Shelf Life using Critical Moisture Approach

Directory of Open Access Journals (Sweden)

Sugiyono1*

2010-12-01

Full Text Available The objectives of this study were to obtain the best formula for corn flour-based batter and to predict its shelf life using critical moisture approach. According to a hedonic test, the best batter formula was composed of 60% corn flour, 12.5% rice flour, 12.5% tapioca starch, and 15% glutinous rice flour. Addition of glutinous rice flour in the formula changed the proportion of amylose and amylopectin in the batter. As a result, the retrogradation of the batter decreased and the texture of its fried product was preferred. A critical moisture approach was used to predict the shelf life of the batter. The critical moisture content of the batter was 0.16 g H2O/g solid.The isotherm sorption phenomenon of the batter was best described using Hasley model. The shelf life of the product was 7 months when packaged in polypropylene (0,07 g/m2day.mmHg at 85% RH.

Navy Bean Flour Particle Size and Protein Content Affect Cake Baking and Batter Quality(1).

Science.gov (United States)

Singh, Mukti; Byars, Jeffrey A; Liu, Sean X

2015-06-01

Whole navy bean flour and its fine and coarse particle size fractions were used to completely replace wheat flour in cakes. Replacement of wheat flour with whole bean flour significantly increased the protein content. The protein content was adjusted to 3 levels with navy bean starch. The effect of navy bean flour and its fractions at 3 levels of protein on cake batter rheology and cake quality was studied and compared with wheat flour samples. Batters prepared from navy bean flour and its fractions had higher viscosity than the cake flour. Reducing the protein content by addition of starch significantly lowered the viscosity of cake batters. The whole navy bean flour and coarse bean fraction cakes were softer than cakes made with wheat flour but had reduced springiness. Principal component analysis showed a clear discrimination of cakes according to protein. It also showed that low protein navy bean flour cakes were similar to wheat flour cakes. Navy bean flour with protein content adjusted to the level of cake (wheat) flour has potential as a healthy alternative in gluten-free cakes. Published 2015. This article is a U.S. Government work and is in the public domain in the USA.

Development of a Pancake-Making Method for a Batter-Based Product

Science.gov (United States)

Cake and pancake are major batter-based products made with soft wheat flour. A standardized baking method for high-ratio cake has been widely used for evaluating the cake-baking performance of soft wheat flour. Chlorinated flour is used to make high-ratio cake, and the cake formula contains relative...

Adulthood Animal Abuse among Women Court-Referred to Batterer Intervention Programs

Science.gov (United States)

Febres, Jeniimarie; Shorey, Ryan C.; Brasfield, Hope; Zucosky, Heather C.; Ninnemann, Andrew; Elmquist, Joanna; Bucossi, Meggan M.; Andersen, Shawna M.; Schonbrun, Yael C.; Stuart, Gregory L.

2012-01-01

The substantial increase in the enrollment of women in batterer intervention programs (BIPs) over the past 30 years has greatly outpaced research on women who perpetrate intimate partner violence (IPV). As a result, it is unknown whether existing programs, which were originally designed to treat male perpetrators, are effective at preventing…

Bilateral pial synangiosis in a child with PHACE syndrome.

Science.gov (United States)

Jack, Andrew S; Chow, Michael M; Fiorillo, Loretta; Chibuk, Thea; Yager, Jerome Y; Mehta, Vivek

2016-01-01

The acronym PHACE has been used to denote a constellation of abnormalities: posterior fossa anomalies, facial hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities. Approximately 30% of patients with large facial hemangiomas have PHACE syndrome, with the vast majority having intracranial arteriopathy. Few reports characterize neurological deterioration from this intracranial arteriopathy, and even fewer report successful treatment thereof. The authors report on a case of a child with PHACE syndrome who presented with an ischemic stroke from a progressive intracranial arteriopathy and describe her successful treatment with bilateral pial synangiosis. An 8-month old girl diagnosed with PHACE syndrome was found to have bilateral internal carotid artery stenosis. Although initially asymptomatic, a few months after diagnosis she suffered a right frontal and parietal stroke. MRI and cerebral angiography investigations demonstrated progressive intracranial arterial stenosis and occlusion. The patient then underwent indirect cerebral revascularization surgery. At 2-year follow-up, she exhibited clinical improvement with persistent speech and motor developmental delay. Follow-up MRI and cerebral angiography showed no new ischemic events and robust extensive vascular collateralization from surgery. PHACE syndrome is an uncommon disease, and affected patients often have cerebral arteriopathy. Although the underlying natural history of cerebral arteriopathy in PHACE remains unclear, cerebral revascularization may represent a potential therapy for symptomatic patients.

Oral Rehabilitation and Management for Secondary Sjögren's Syndrome in a Child.

Science.gov (United States)

Fidalgo, Tatiana Kelly da Silva; Nogueira, Carla; Andrade, Marcia Rejane Thomas Canabarro; Valente, Andrea Graciene Lopez Ramos; Tannure, Patricia Nivoloni

2016-01-01

The aim of this paper is to describe a rare case report of a pediatric patient with secondary Sjögren's syndrome (SSS). A 12-year-old female child was referred to the Pediatric Dentistry Clinic with the chief complaint of tooth pain, dry mouth, and tooth sensibility. The patient was submitted to orthodontic treatment prior to syndrome diagnosis. The clinical treatment consisted of the interruption of orthodontic treatment and restoring the oral condition with dental treatment and the use of artificial saliva in an innovative apparatus. Dental therapy involved the control of dental caries, periodontal disease, and opportunistic fungal infections and the use of fluoride-rich solutions. The present clinical case describes clinical and laboratory aspects of SSS in pediatric patients. The management of the oral findings promoted an improvement in the oral health status and quality of life of the child.

Catastrophic antiphospholipid syndrome and pulmonary embolism in a 3-year-old child

International Nuclear Information System (INIS)

Olivier, Carine; Blondiaux, Eleonore; Dacher, Jean-Nicolas; Blanc, Thierry; Borg, Jeanne-Yvonne

2006-01-01

We report a rare example of catastrophic antiphospholipid syndrome (CAPS) in a young child. A 3-year-old girl with no previous medical history presented with extensive and recurrent thromboses. The diagnosis of CAPS was based on the occurrence of cardiopulmonary embolism in the child with a high titre of autoantibodies directed against phospholipids and beta-2-glycoprotein 1. In spite of a relatively rapid diagnosis and multiple treatments, the outcome was unfavourable. Multimodality imaging, including both ultrasonography and spiral CT, allowed close follow-up of the thromboses. (orig.)

Catastrophic antiphospholipid syndrome and pulmonary embolism in a 3-year-old child

Energy Technology Data Exchange (ETDEWEB)

Olivier, Carine; Blondiaux, Eleonore; Dacher, Jean-Nicolas [University Hospital of Rouen, Department of Radiology, Rouen (France); Blanc, Thierry [University Hospital of Rouen, Department of Neonatal Medicine, Rouen (France); Borg, Jeanne-Yvonne [University Hospital of Rouen, Haematology Laboratory, Rouen (France)

2006-08-15

We report a rare example of catastrophic antiphospholipid syndrome (CAPS) in a young child. A 3-year-old girl with no previous medical history presented with extensive and recurrent thromboses. The diagnosis of CAPS was based on the occurrence of cardiopulmonary embolism in the child with a high titre of autoantibodies directed against phospholipids and beta-2-glycoprotein 1. In spite of a relatively rapid diagnosis and multiple treatments, the outcome was unfavourable. Multimodality imaging, including both ultrasonography and spiral CT, allowed close follow-up of the thromboses. (orig.)

Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child.

Science.gov (United States)

Tandon, Sandeep; Chauhan, Yashwant; Sharma, Meenakshi; Jain, Manish

2016-01-01

Gorlin-Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant trait caused due to mutations in the patched tumor suppressor gene (PTCH) gene found on the long arm of chromosome 9. The syndrome is characterized by the presence of odontogenic keratocysts (OKCs), basal cell carcinomas, and skeletal malformations. Early diagnosis of the syndrome can be done by pedodontist as OKC is one of the early manifestations of the syndrome. Early diagnosis and treatment is important for long-term prognosis of the syndrome by reducing the severity of cutaneous carcinomas and deformities due to jaw cyst. The present case describes an 11-year-old patient with some typical features of NBCCS, which were diagnosed through its oral and maxillofacial manifestations. This case emphasizes the importance of pedodontist in early recognition of the syndrome. Tandon S, Chauhan Y, Sharma M, Jain M. Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child. Int J Clin Pediatr Dent 2016;9(3):264-268.

Estudio Meta-Analítico de Características Diferenciales Entre Maltratadores y no Maltratadores: El Caso de la Psicopatología y el Consumo de Alcohol o Drogas Meta-Analytic Study of Differential Characteristics Between Batterers and Non-Batterers: The Case of Psychopathology and Consumption of Alcohol and Drugs

Directory of Open Access Journals (Sweden)

Victoria Ferrer

2004-05-01

Full Text Available Últimamente la violencia doméstica ha pasado a ser considerada como un verdadero problema social. Entre las cuestiones que han generado mayor interés está la caracterización de los agresores, es decir, tratar de delimitar las características que diferencian a maltratadores de no maltratadores. Este interés ha dado lugar a gran cantidad de literatura cuyas conclusiones parecen provisionales y en ocasiones confusas. El objetivo de este trabajo es realizar una revisión meta-analítica de la literatura que compara a maltratadores y no maltratadores en cuanto a psicopatología y consumo de alcohol y drogas. Los resultados obtenidos indican que, en general, hay diferencias significativas aunque limitadas en cuanto a su magnitud entre unos y otros en cuanto a estas variables. Se discuten las implicaciones y limitaciones de estos resultados.Domestic violence has been regarded as an important social problem during the last years. One of the questions that have generated more interest is the perpetrator profile, that is the features that differentiate male batterers from male non-batterers. A raising amount of literature exists on this matter, although conclusions seem yet to be provisional. This piece of research offers a meta-analytic review about the literature that compares male batterers and non-batterers in psychopathology and use of alcohol and drugs. These meta-analytic findings offer support for the existence of limited differences between male batterers and non-batterers in these variables. The implications and limitations of these results are discussed.

[Perthes syndrome secondary to an asthma attack: A case report in a 15-year-old child].

Science.gov (United States)

El Amraoui, W; El Koraichi, A; Bentalha, A; El Kettani, S E

2016-12-01

Perthes syndrome, or traumatic asphyxia syndrome, is a rare clinical entity, associating cyanosis, cervicofacial petechiae and subconjunctival hemorrhage. It is usually secondary to chest trauma, but can occur in any situation of abrupt rise in intrathoracic pressure with closed glottis. In this paper, we present a case of Perthes syndrome that triggered an asthma attack for a child during surgery. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Traumatic skeletal changes

International Nuclear Information System (INIS)

Troeger, J.; Schofer, O.

1985-01-01

Skeleton scintiscanning is indicated in the following cases: (1) Suspected bone injury after clinical examination, the radiograph of the skeletal region in question contributing findings that either do not confirm suspision, or make not clear whether the changes observed are traumatic. (2) Polytrauma. (3) When the accident scenario reported by the persons taking care of the child does not sufficiently explain the skeletal changes observed, or when these persons expressly deny the possibility of a trauma being the cause of findings observed. (4) Suspected or proven battered-child syndrome. (orig./MG) [de

Classic Bartter syndrome: a rare cause of failure to thrive in a child.

Science.gov (United States)

Vieira, Helena; Mendes, Leonor; Mendes, Patricia; da Silva, José Esteves

2012-06-28

Bartter syndrome is a group of rare autosomal-recessive disorders caused by a defect in distal tubule transport of sodium and chloride. Blood gases and plasma electrolytes raise suspicion of this diagnosis and the definitive diagnosis is made by genetic study. Early treatment improves prognosis. The authors present the case of an 11-month-old child with early failure to thrive and severe regurgitation. Blood gases revealed hypochloraemic metabolic alkalosis, hyponatraemia and hypokalaemia. Blood pressure was normal and polyuria was documented. She began therapy with potassium chloride supplementation and indomethacin. There was clinical improvement and plasma potassium and bicarbonate normalised. The molecular study confirmed it was the classic form of Bartter syndrome. Despite being rare in clinical practice, which may lead to unnecessary medical investigation and diagnosis delay, in a child with failure to thrive, hypochloraemic metabolic alkalosis and hypokalaemia, this diagnosis must be considered.

A model study on color and related structural properties of cured porcine batters

NARCIS (Netherlands)

Palombo, R.

1990-01-01

Color, determined by tristimulus colorimeters, and related structural properties, i.e., microstructure, surface rheology, and bulk rheology, of cured porcine meat batters were studied.

Effects of various processing factors (such as, temperature, air pressure during chopping, and

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

Science.gov (United States)

Kariminejad, Ariana; Ajeawung, Norbert Fonya; Bozorgmehr, Bita; Dionne-Laporte, Alexandre; Molidperee, Sirinart; Najafi, Kimia; Gibbs, Richard A; Lee, Brendan H; Hennekam, Raoul C; Campeau, Philippe M

2017-04-01

Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome. Clinical investigations coupled with karyotype analysis, array-comparative genomic hybridization, exome and Sanger sequencing were performed to characterize the condition in this child. Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. This finding coupled with the presence of characteristic features such as brachycephaly, ptosis, blepharophimosis, hypertelorism, short palpebral fissures, cleft palate and developmental delay allowed us to make a diagnosis of KOS. In conclusion, our findings highlight the importance of considering KOS as a differential diagnosis for patients under evaluation for DOORS syndrome and expand the phenotype of KOS to include small or absent terminal phalanges, nails, and the presence of hallux varus and multicystic dysplastic kidneys.

Approaches to the evaluation of the child with a limp

International Nuclear Information System (INIS)

Poznanski, A.K.

1987-01-01

This course addresses the radiologic approach to evaluating the child with a limp and the integration of various imaging modalities for this purpose, particularly radionuclide bone scans, CT, US, and MR imaging. The use of these modalities in the various abnormalities that cause a limp in children is discussed. These abnormalities include congenital disorders; inflammatory problems such as transient toxic synovitis, septic arthritis, or osteomyelitis; neoplastic entities such as osteoid osteoma, leukemia, and neuroblastoma; trauma, such as may be seen in association with stress fracture, the battered child, cartilagenous or ligamentous injury; and other conditions such as Perthes disease, Gaucher disease, steroid arthropathy, slipped capital femoral epiphyses, the arthritides, reflex sympathetic dystrophy

Parent and Patient Perceptions of Functional Impairment Due to Tourette Syndrome: Development of a Shortened Version of the Child Tourette Syndrome Impairment Scale.

Science.gov (United States)

Barfell, Kara S Francis; Snyder, Ryan R; Isaacs-Cloes, Kelly M; Garris, Jordan F; Roeckner, Alyssa R; Horn, Paul S; Guthrie, Michael D; Wu, Steve W; Gilbert, Donald L

2017-07-01

The Child Tourette Syndrome Impairment Scale (CTIM) rates 37 problems in school, social, and home domains separately for tics and for comorbid diagnoses. However, a shorter version would be easier to implement in busy clinics. Using published data from 85 children with Tourette syndrome, 92 controls, and parents, factor analysis was used to generate a "mini-CTIM" composed of 12 items applied to tic and comorbid diagnoses. Child- and parent-rated mini-CTIM scores were compared and correlated across raters and accounting for clinician-rated tic severity and presence of attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD). The mini-CTIM achieved domain Cronbach alphas ranging from 0.71 to 0.94 and intra-item correlation coefficients ranging from 0.84 to 0.96. The resulting scale correlated with clinician-rated tic severity and reflected the presence of ADHD and OCD. The mini-CTIM appears promising as a practical assessment tool for tic- and non-tic-related impairment in children with Tourette syndrome.

Development of bilateral coronary artery aneurysms in a child with Noonan syndrome

International Nuclear Information System (INIS)

Mauro, David M.; Flors, Lucia; Norton, Patrick T.; Hagspiel, Klaus D.; Hoyer, Andrew W.

2016-01-01

Noonan syndrome is a constellation of congenital malformations including heart defects, facial anomalies and short stature. The cardiovascular defects are variable and extensive, with the most common being pulmonary stenosis and hypertrophic cardiomyopathy. Coronary artery anomalies have only been reported in a few cases. We report a child with Noonan syndrome status post pulmonary stenosis and atrial septal defect repair, who developed bilateral coronary artery aneurysms. The aneurysms were diagnosed with both cardiac magnetic resonance imaging and coronary computed tomography angiography. There had been no evidence of them on a cardiac MR exam 5 years previously. (orig.)

Development of bilateral coronary artery aneurysms in a child with Noonan syndrome

Energy Technology Data Exchange (ETDEWEB)

Mauro, David M.; Flors, Lucia; Norton, Patrick T.; Hagspiel, Klaus D. [University of Virginia Health System, Department of Radiology and Medical Imaging, Charlottesville, VA (United States); Hoyer, Andrew W. [University of Virginia Health System, Department of Pediatrics, Division of Pediatric Cardiology, Charlottesville, VA (United States); Pediatric Cardiology Center of Oregon, Portland, OR (United States)

2016-03-15

Noonan syndrome is a constellation of congenital malformations including heart defects, facial anomalies and short stature. The cardiovascular defects are variable and extensive, with the most common being pulmonary stenosis and hypertrophic cardiomyopathy. Coronary artery anomalies have only been reported in a few cases. We report a child with Noonan syndrome status post pulmonary stenosis and atrial septal defect repair, who developed bilateral coronary artery aneurysms. The aneurysms were diagnosed with both cardiac magnetic resonance imaging and coronary computed tomography angiography. There had been no evidence of them on a cardiac MR exam 5 years previously. (orig.)

Color compensation in nitrite-reduced meat batters incorporating paprika or tomato paste.

Science.gov (United States)

Bázan-Lugo, Eduardo; García-Martínez, Ignacio; Alfaro-Rodríguez, Rosa Hayde; Totosaus, Alfonso

2012-06-01

Nitrite is a key ingredient the manufacture of meat products, forming a stable pink color characteristic of cured products, retarding the development of rancidity and off-odors and flavors during storage, and preventing microbial growth. The negative aspects of nitrite and the demands for healthy foods result in the need to reduce nitrite in cured meat products. Paprika or tomato has been employed as natural pigments in meat products. The objective of this work was to determine the effect of incorporating paprika powder or tomato paste on the texture, rancidity and instrumental and sensory color compensation in nitrite-reduced meat batters. Addition of tomato paste improved moisture content, resulting in harder but less cohesive samples as compared to control and paprika-containing meat batters. Color characteristics of reduced nitrite samples obtained higher a* red coloration (8.9 for paprika and 7.7-8.0 for tomato paste), as compared to control samples (5.65). Instrumental color was low in control samples, with high values for tomato paste and paprika samples. Nonetheless, tomato paste used to compensate color in nitrite-reduced meat batters was ranked closer to the control sample in sensory evaluation. Color characteristics-instrumental and sensory-in these kinds of meat products were enhanced by the addition of 2.5-3.0% of tomato paste, presenting results close to the non-reduced nitrite control. Similarly, antioxidant components of tomato paste or paprika reduced lipid oxidation. Nitrite reduction from 150 to 100 ppm could be achieved employing tomato paste as a natural pigment to improve color and texture. Copyright © 2011 Society of Chemical Industry.

Quantification of Arabinose content and batter volume in elite black gram mutants induced by gamma rays and electron beam

International Nuclear Information System (INIS)

Vanniarajan, C.; Sri Subalakhshmi, V.K.I.; Se Shamyugtha; Rajeswaran, G.; Monica, R.; Veni, K.

2017-01-01

Black gram (Vignamungo (L) Hepper) is one among the mostly preferred sources of protein, especially in vegetarian diet. One of the most notable biochemical attributes of black gram is Arabinose. As it plays a vital role in the yeast metabolism, it has a direct correlation with the battering quality of Black gram. MDU 1 variety has the highest Arabinose content of 7.5 per cent and VBN(Bg)4yields higher. Both the varieties have indeterminate growth habit. Hence, these two varieties were chosen and treated with Gamma rays and Electron beam of 100–500 Gy and 200–600 Gy respectively. Twenty desirable mutants were selected in M6 generation based on determinate growth habit and high yield with short duration. These mutants were tested for the Arabinose content along with MDU 1 and VBN (Bg)4, using Bial (1902) method. The results of the selected M6 generation mutants revealed that only three mutants excelled in Arabinose content than MDU 1. Two mutants were found to retain the same Arabinose content as that of MDU 1.Three mutants containing higher Arabinose content, one with lower Arabinose content and the parents were further analysed for batter quantity. The unveiled fact is that the increase in Arabinose content increases the batter volume to a certain extent (Arabinose = 10 %). Eventually, with a due course of increase in Arabinose content, the batter volume decreases. The results were tested for significance and were found to be significant. In this present investigation, it was found that the optimum Arabinose content is 10 per cent, which showed an increased batter volume. It has to be further confirmed by using advanced biochemical and molecular methods. (author)

Prolonged postoperative desaturation in a child with Down syndrome and atrial septal defect

Directory of Open Access Journals (Sweden)

Renu Sinha

2011-01-01

Full Text Available We report prolonged desaturation in a child with Down syndrome (DS and atrial septal defect due to undiagnosed interstitial lung disease. An 18-month-old child with DS was scheduled for bilateral lens aspiration for cataract. The child had atrial septal defect and hypothyroidism. He also had delayed milestones and hypotonia with episodes of recurrent respiratory tract infection necessitating repeated hospitalization. Preoperative evaluation was unremarkable. General anaesthesia and controlled ventilation using proseal laryngeal mask airway was instituted. He had uneventful intraoperative period. In the postoperative period, the child had desaturation 1 hour after surgery on discontinuation of oxygen supplementation by face mask, which improved with oxygen therapy. Supplemental oxygen via face mask was continued and weaned off over several days. On further evaluation, the child was diagnosed as having interstitial lung disease. He improved and discharged from the hospital 15 days after the surgery with room air saturation of 90%.

[Gardner syndrome--parent alienation syndrome (PAS). Diagnosis or family reality?].

Science.gov (United States)

Namysłowska, Irena; Heitzman, Janusz; Siewierska, Anna

2009-01-01

The authors present characteristics of Parental Alienation Syndrome (PAS) proposed by Gardner as well as data, which may help to differentiate that syndrome with real psychological, physical and sexual abuse. The consequences of Gardner Syndrome for legal decisions in the court cases of child custody and the critique of this syndrome in forensic and psychiatric literature are also discussed, and several questions posed. Authors propose to treat Gardner Syndrome not as as a child disorder but as a specific, dynamic family situation, which occurs sometimes, during divorce and fight about child custody.

Fatal respiratory distress syndrome due to coronavirus infection in a child with severe combined immunodeficiency

OpenAIRE

Szczawinska‐Poplonyk, Aleksandra; Jonczyk‐Potoczna, Katarzyna; Breborowicz, Anna; Bartkowska‐Sniatkowska, Alicja; Figlerowicz, Magdalena

2012-01-01

Please cite this paper as: Szczawinska‐Poplonyk et al. (2012) Fatal respiratory distress syndrome due to coronavirus infection in a child with severe combined immunodeficiency. Influenza and Other Respiratory Viruses DOI: 10.1111/irv.12059. Coronaviruses have been demonstrated to contribute substantially to respiratory tract infections among the child population. Though infected children commonly present mild upper airway symptoms, in high‐risk patients with underlying conditions, particularl...

Contextual Factors Impacting Battered Women's Intentions to Reuse the Criminal Legal System

Science.gov (United States)

Fleury-Steiner, Ruth E.; Bybee, Deborah; Sullivan, Cris M.; Belknap, Joanne; Melton, Heather C.

2006-01-01

While a small number of past studies have examined either situational, relational, or systems-level factors that influence battered women's use of either the police, prosecutorial, or court systems, no study to date has examined how these factors each influence women's intentions to reuse these systems. To address this gap, in-person interviews…

Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: A case report and update on dentofacial features of Crouzon syndrome

Directory of Open Access Journals (Sweden)

K Nagaraju

2011-01-01

Full Text Available Crouzon syndrome or craniofacial dysostosis is a rare syndrome characterized by craniosynostosis, midfacial hypoplasia and exophthalmia. The abnormalities found in this syndrome change too much from case to case depending on the suture fusion order. We report a case of a 12 year old child and a mother showing variations in the dentofacial tissues clinically and radiographically. Subsequently, the application of digital software [Dolphin Imaging 11] enabled us to solve out the case as Crouzon syndrome by analyzing the skeletal and soft tissue alterations. An update of the effects of this syndrome on various systems and dentofacial features with emphasis on tooth abnormalities is documented.

Empty sella syndrome in a male child with failure to thrive.

Science.gov (United States)

Rath, Debasmita; Sahoo, Ranjan Kumar; Choudhury, Jasashree; Dash, Dillip Kumar; Mohapatra, Anuspandana

2015-01-01

Empty sella syndrome (ESS) is commonly seen in adult and is considered as an infrequent finding in childhood. It may be diagnosed incidentally on imaging in asymptomatic children. However, most of the children with ESS present with features of hypothalamic-pituitary dysfunction. We report a case of ESS in a child with features of failure to thrive as well as hypopituitarism and review the literature briefly on the subject.

Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy

Directory of Open Access Journals (Sweden)

Ron Jacob MD

2015-10-01

Full Text Available X-Linked adrenoleukodystrophy is the most common peroxisomal disorder with different phenotypes among patients carrying the same ABCD1 mutation. There were previously reported associations of X-linked adrenoleukodystrophy with autoimmune disorders. The authors describe Guillain Barré syndrome in a child with X-linked adrenoleukodystrophy. The available evidence does not permit conclusion concerning etiological linkage between the 2 diseases, but it warrants further study.

Implementing a Batterer's Intervention Program in a Correctional Setting: A Tertiary Prevention Model

Science.gov (United States)

Yorke, Nada J.; Friedman, Bruce D.; Hurt, Pat

2010-01-01

This study discusses the pretest and posttest results of a batterer's intervention program (BIP) implemented within a California state prison substance abuse program (SAP), with a recommendation for further programs to be implemented within correctional institutions. The efficacy of utilizing correctional facilities to reach offenders who…

Speech development delay in a child with foetal alcohol syndrome

Directory of Open Access Journals (Sweden)

Jacek Wilczyński

2016-09-01

Full Text Available A female foetus in her mother’s womb was exposed to high concentrations of alcohol at each stage of pregnancy on a long-term basis, which resulted in a permanent disability. In addition to a number of deficiencies in the overall functioning of the body of the child, there are serious problems pertaining to verbal communication. This thesis aims to describe foetal alcohol syndrome (FAS disease and present the basic problems with communication functions in a child, caused by damage of brain structures responsible for speech development. The thesis includes a speech diagnosis and therapy program adapted to the presented case. In the Discussion Section we have presented characteristics of communication disorders in case of children with FAS and the description of developmental malformations, neurobehavioral disorders, and environmental factors affecting the development of the child’s speech.

Oral Rehabilitation and Management for Secondary Sjögren’s Syndrome in a Child

Directory of Open Access Journals (Sweden)

Tatiana Kelly da Silva Fidalgo

2016-01-01

Full Text Available The aim of this paper is to describe a rare case report of a pediatric patient with secondary Sjögren’s syndrome (SSS. A 12-year-old female child was referred to the Pediatric Dentistry Clinic with the chief complaint of tooth pain, dry mouth, and tooth sensibility. The patient was submitted to orthodontic treatment prior to syndrome diagnosis. The clinical treatment consisted of the interruption of orthodontic treatment and restoring the oral condition with dental treatment and the use of artificial saliva in an innovative apparatus. Dental therapy involved the control of dental caries, periodontal disease, and opportunistic fungal infections and the use of fluoride-rich solutions. The present clinical case describes clinical and laboratory aspects of SSS in pediatric patients. The management of the oral findings promoted an improvement in the oral health status and quality of life of the child.

Aminogenesis control in fermented sausages manufactured with pressurized meat batter and starter culture.

Science.gov (United States)

Latorre-Moratalla, M L; Bover-Cid, S; Aymerich, T; Marcos, B; Vidal-Carou, M C; Garriga, M

2007-03-01

The application of high hydrostatic pressure (200MPa) to meat batter just before sausage fermentation and the inoculation of starter culture were studied to improve the safety and quality of traditional Spanish fermented sausages (fuet and chorizo). Higher amounts of biogenic amines were formed in chorizo than in fuet. Without interfering with the ripening performance in terms of acidification, drying and proteolysis, hydrostatic pressure prevented enterobacteria growth but did not affect Gram-positive bacteria significantly. Subsequently, a strong inhibition of diamine (putrescine and cadaverine) accumulation was observed, but that of tyramine was not affected. The inoculated decarboxylase-negative strains, selected from indigenous bacteria of traditional sausages, were resistant to the HHP treatment, being able to lead the fermentation process, prevent enterococci development and significantly reduce enterobacteria counts. In sausages manufactured with either non-pressurized or pressurized meat batter, starter culture was the most protective measure against the accumulation of tyramine and both diamines.

Dynamic viscoelasticity of protease-treated rice batters for gluten-free rice bread making.

Science.gov (United States)

Honda, Yuji; Inoue, Nanami; Sugimoto, Reina; Matsumoto, Kenji; Koda, Tomonori; Nishioka, Akihiro

2018-03-01

Papain (cysteine protease), subtilisin (Protin SD-AY10, serine protease), and bacillolysin (Protin SD-NY10, metallo protease) increased the specific volume of gluten-free rice breads by 19-63% compared to untreated bread. In contrast, Newlase F (aspartyl protease) did not expand the volume of the rice bread. In a rheological analysis, the viscoelastic properties of the gluten-free rice batters also depended on the protease categories. Principal component analysis (PCA) analysis suggested that the storage and loss moduli (G' and G″, respectively) at 35 °C, and the maximum values of G' and G″, were important factors in the volume expansion. Judging from the PCA of the viscoelastic parameters of the rice batters, papain and Protin SD-AY10 improved the viscoelasticity for gluten-free rice bread making, and Protin SD-NY effectively expanded the gluten-free rice bread. The rheological properties differed between Protin SD-NY and the other protease treatments.

Nephrogenic diabetes insipidus with idiopathic Fanconi's syndrome in a child who presented as vitamin D resistant rickets.

Science.gov (United States)

Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

2011-10-01

Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycaemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium, and magnesium. Whereas diabetes insipidus is a disease of collecting tubules and child mainly presents with dehydration and hypernatremia. Though all the cases published till date were secondary to drugs, myeloma, hematological disorders, etc., we are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to of severe hypokalemia induced tubular dysfunction.

Disarming Batterers through Restraining Orders: The Promise and the Reality in California

Science.gov (United States)

Seave, Paul L.

2006-01-01

Laws that prohibit persons under a domestic violence restraining order from purchasing or possessing a firearm are a primary way to keep guns out of the hands of batterers. In July 2005, the California Attorney General's Task Force on the Local Criminal Justice Response to Domestic Violence issued a report called Keeping the Promise: Victim Safety…

Cornelia de Lange syndrome and esophageal stricture in a 9-year-old child

Directory of Open Access Journals (Sweden)

R. G. Artamonov

2016-01-01

Full Text Available Children with rare diseases may be found to have various malformations, including those of the gastrointestinal tract. The authors followed up a 9‑year-old child with Cornelia de Lange syndrome, who was found to have esophageal stricture with the development of gastroesophageal reflux and esophagitis.

Extension of the Vane Pump-Grinder Technology to Manufacture Finely Dispersed Meat Batters.

Science.gov (United States)

Irmscher, Stefan B; Gibis, Monika; Herrmann, Kurt; Oechsle, Anja Maria; Kohlus, Reinhard; Weiss, Jochen

2016-03-01

A vane pump-grinder system was extended to enable the manufacture of finely dispersed emulsion-type sausages by constructing and attaching a high-shear homogenizer at the outlet. We hypothesized that the dispersing capabilities of the extended system may be improved to the point of facilitating meat-fat emulsification due to an overall increased volumetric energy input EV . Coarsely ground raw material mixtures were processed to yield meat batters at varying volume flow rates (10 to 60 L/min) and rotational rotor speeds of the homogenizer nrotor (1000 to 3400 rpm). The normalized torques acting on pump, grinder, and homogenizer motors were recorded and unit power consumptions were calculated. The structure of the manufactured meat batters and sausages were analyzed via image analysis. Key physicochemical properties of unheated and heated batters, that is, texture, water-binding, color, and solubilized protein were determined. The mean diameter d10 of the visible lean meat particles varied between 352 and 406 μm whereas the mean volume-surface diameter d32 varied between 603 and 796 μm. The lightness L* ranged from 66.2 to 70.7 and correlated with the volumetric energy input and product structure. By contrast, varying process parameters did not impact color values a* (approximately 11) and b* (approximately 8). Interestingly, water-binding and protein solubilization were not affected. An exponential process-structure relationship was identified allowing manufacturers to predict product properties as a function of applied process parameters. Raw material mixtures can be continuously comminuted, emulsified, and subsequently filled into casings using an extended vane pump-grinder. © 2016 Institute of Food Technologists®

Waardenburg Syndrome in an 8 Year Old African Child: Case Report

OpenAIRE

V. Odogu; I. O. Chukwuka; N. Chinawa

2017-01-01

Aim: Waardenburg syndrome is a very rare condition, inherited autosomally with genetic heterogeneity and characterized by deafness, hair discoloration, iris discoloration and eyelid changes. Case Report: We report a case of an 8 year old female child with a history of a striking difference between the eyes since birth. Ocular examination revealed slightly widened medial canthal distances and hypertelorism. There was a lateral displacement of the right inner canthi [Dystopia Canthorum]. T...

Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome

Directory of Open Access Journals (Sweden)

Michael J. Gale

2018-06-01

Full Text Available Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS, including longitudinal follow-up and analysis. Observations: After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous de novo mutation in the ADNP gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration. Conclusions and importance: Patients with HVDAS are known to have abnormal visual behavior due to refractive or cortical impairment. However, we present the first description, to our knowledge, of an association with retinal mal-development and degeneration. Thus, patients with HVDAS should be referred for ophthalmic genetics evaluation, and HVDAS should be on the differential diagnosis for young children with global developmental delay who present with nystagmus, rod and cone dysfunction with electronegative waveform, and relative lack of severe structural degeneration on optical coherence tomography. Keywords: Helsmoortel-Van der Aa Syndrome, HVDAS, Activity-dependent neuroprotective protein, ADNP, Nystagmus, Retinal degeneration, Electronegative waveform, Optical coherence tomography

Arterial Hypertension in a Child with Williams-Beuren Syndrome (7q11.23 Chromosomal Deletion

Directory of Open Access Journals (Sweden)

Cristina de Sylos

2002-08-01

Full Text Available We report the case of a 7-year-old male child diagnosed with Williams-Beuren syndrome and arterial hypertension refractory to clinical treatment. The diagnosis was confirmed by genetic study. Narrowing of the descending aorta and stenosis of the renal arteries were also diagnosed. Systemic vascular alterations caused by deletion of the elastin gene may occur early in individuals with Williams-Beuren syndrome, leading to the clinical manifestation of systemic arterial hypertension refractory to drug treatment.

Anesthetic management of a child with Down’s Syndrome having atlanto axial instability

Directory of Open Access Journals (Sweden)

Basant Bhattarai

2009-01-01

Full Text Available Down's syndrome is the most commonly encountered congenital anomaly in medical practice. These patients are of special concern to medical practice because of their associated problems with regard to respiratory, cardiovascular and other systemic problems. As these patients present for repeated surgeries like dental extraction, facial reconstruction and fixation of cervical spine, these patients pose challenges to the anesthesiologist because of their unique set of problems, namely atlantoaxial instability, small trachea, congenital heart disease and repeated chest infections due to lowered immunity. Their reactivity to inhalational anesthetics and atropine is variable. Here we present an interesting case report of a child with Down's syndrome who presented with atlantoaxial instability for MRI of cervical spine under general anesthesia. KeyWords:atlanto axial instability, down’s syndrome, trisomy 21

Managing Scoliosis in a Young Child with Rett Syndrome: A Case Study

Directory of Open Access Journals (Sweden)

Meir Lotan

2005-01-01

Full Text Available Rett syndrome is a genetic disorder primarily affecting females. One of its most disabling features is the severe and rapid progression of scoliosis. So far, only surgical intervention has succeeded in reversing the development of scoliosis in Rett syndrome.The present study describes a new management approach implemented with a girl with Rett syndrome. The core of the management regime was intensive: asymmetrical activation of trunk muscles through equilibrium reactions. The X-rays accompanying the article (evaluated by four experienced orthopedic surgeons blinded to the intervention process suggested that the intervention was successful in reversing the progress of the scoliosis for the above-mentioned child. Discontinuation of treatment led to severe and rapid deterioration of the spinal curve.Due to the fact that this was a case study, generalization is limited, but we suggest further investigation and studies with this method.

Occupational Therapy Intervention in a child with Cri-du-Chat Syndrome: a case study

Directory of Open Access Journals (Sweden)

Gabriela Caseiro

2013-04-01

Full Text Available Cri-du-Chat syndrome is a chromosomal abnormality that can result in several damages including developmental delay and intellectual disability of the affected child. This case study describes the occupational therapy intervention in a child with Cri-du-chat syndrome that was followed from two to four years old, in weekly sessions, at a school hospital in the state of São Paulo. Data from medical records, family reports, and occupational therapy sessions were used for case description. The initial assessment showed that the child was hypotonic, stood up only with support, and explored objects by taking them to the mouth. Occupational Therapy assistance aimed to stimulate sensorimotor performance skills (perceptual, neuromuscleskeletal and motor processing and cognitive integration and components (attention spectrum, sequencing, and learning, through make-believe activities and participation in the activities of daily living (ADL. Moreover, it was also necessary to intervene directly in the school context and the child’s family, advising parents to avoid overprotection. Through the jointffort of the multidisciplinary team and the child’s family, it was possible to contribute to the improvement of bodily functions, allowing an increase in activities and participation, considering the child’s personal factors and environmental conditions, with consequent discharge from ambulatory attendance of occupational therapy.

Problems reported by parents of children in multiple cultures: the Child Behavior Checklist syndrome constructs

NARCIS (Netherlands)

A.A.M. Crijnen (Alfons); T.M. Achenbach (Thomas); F.C. Verhulst (Frank)

1999-01-01

textabstractOBJECTIVE: The purpose of this study was to compare syndromes of parent-reported problems for children in 12 cultures. METHOD: Child Behavior Checklists were analyzed for 13,697 children and adolescents, ages 6 through 17 years, from general population

Clinical features of the head injury caused by child abuse in infants

International Nuclear Information System (INIS)

Nishimoto, Hiroshi; Kurihara, Jun

2007-01-01

The diagnosis and managements of the head injury in battered children are greatly complicated by medical history and the mechanisms of injury. In the present study, we evaluated the clinical features of the head injury in battered children. Clinical signs and symptoms, the mechanisms of injury, intracranial pathology, and prognosis of 25 battered children with head injury treated between 1984 and 2003 were retrospectively analyzed. The age of 25 children was between 1 month and 2 years old. The average of the ages was 7 months old. In 68% of 25 patients, the age was 6 months or less. The medical history of head injury was unclear in 16 children. The chief complains were disturbance of consciousness, convulsion, vomiting and hypothermia. Retinal hemorrhages were recognized in 88% of the patients and these were bilateral in 68%. Acute subdural hematomas (19 cases) and chronic subdural hematomas (6 cases) were shown on CTs or MRIs. In four cases, cerebral contusions were complicated as intracranial pathology. In 44% of the patients, the hypoxic-ischemic injury was confirmed on CTs or MRIs. Fractures of limbs and ribs were recognized on skeletal survey in 40% of the patients. 71% of 17 survival cases had moderate or severe psychomotor disabilities at the end of follow-up periods. In children under 2 years of age with subdural hematomas, clinical investigations other than CT and MRI, included ophthalmoscopy by ophthalmologist and skeletal survey, are crucial and mandatory for early diagnosis of the child abuse. (author)

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

Science.gov (United States)

Thaker, Vidhu V; Esteves, Kristyn M; Towne, Meghan C; Brownstein, Catherine A; James, Philip M; Crowley, Laura; Hirschhorn, Joel N; Elsea, Sarah H; Beggs, Alan H; Picker, Jonathan; Agrawal, Pankaj B

2015-05-01

The current obesity epidemic is attributed to complex interactions between genetic and environmental factors. However, a limited number of cases, especially those with early-onset severe obesity, are linked to single gene defects. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is one of the syndromes that presents with abrupt-onset extreme weight gain with an unknown genetic basis. To identify the underlying genetic etiology in a child with morbid early-onset obesity, hypoventilation, and autonomic and behavioral disturbances who was clinically diagnosed with ROHHAD syndrome. Design/Setting/Intervention: The index patient was evaluated at an academic medical center. Whole-exome sequencing was performed on the proband and his parents. Genetic variants were validated by Sanger sequencing. We identified a novel de novo nonsense mutation, c.3265 C>T (p.R1089X), in the retinoic acid-induced 1 (RAI1) gene in the proband. Mutations in the RAI1 gene are known to cause Smith-Magenis syndrome (SMS). On further evaluation, his clinical features were not typical of either SMS or ROHHAD syndrome. This study identifies a de novo RAI1 mutation in a child with morbid obesity and a clinical diagnosis of ROHHAD syndrome. Although extreme early-onset obesity, autonomic disturbances, and hypoventilation are present in ROHHAD, several of the clinical findings are consistent with SMS. This case highlights the challenges in the diagnosis of ROHHAD syndrome and its potential overlap with SMS. We also propose RAI1 as a candidate gene for children with morbid obesity.

The head tracks and gaze predicts: how the world's best batters hit the ball

NARCIS (Netherlands)

Mann, D.L.; Spratford, W.; Abernethy, B.

2013-01-01

Hitters in fast ball-sports do not align their gaze with the ball throughout ball-flight; rather, they use predictive eye movement strategies that contribute towards their level of interceptive skill. Existing studies claim that (i) baseball and cricket batters cannot track the ball because it moves

Effect of inulin and pectin on physicochemical characteristics and stability of meat batters

Science.gov (United States)

The aim of this study was to investigate levels of inulin and pectin replacing pork back fat (BF) in meat batters (MB) of frankfurter sausage. Six treatments were evaluated: control (T1), control + 70% BF (T2), control + 85% BF + 15% inulin (T3), control + 70% BF + 30% inulin (T4), control + 85% B...

MACULAR COLOBOMA IN A CHILD WITH USHER SYNDROME.

Science.gov (United States)

Ishaq, Mazhar; Mukhtar, Ahsan; Khan, Saim

2015-01-01

Macular coloboma is a rare entity and its concomitance with Usher syndrome is described here. A 14 years male child was studied in detail along with other family members. He underwent two complete ophthalmologic examinations (4-years follow-up), including visual assessment, orthoptic evaluation, colour vision test, visual fields, corneal topography, Optical coherence tomography, fluorescein angiography, and electroretinography. Detailed ophthalmic examination was also conducted on other asymptomatic members of the same family. Patient had sensorineural deafness, poor visual acuity, and progressive visual field impairment in both eyes, bilaterally presenting macular coloboma and atypical retinitis pigmentosa pattern. The other investigated relatives did not show any specific and/or significant ocular disorder. This concurrence represents no genetic pattern and is observed in sporadic cases.

Juiciness improvement of frozen battered shrimp burger using modified tapioca starch, sodium alginate, and iota-carrageenan

Directory of Open Access Journals (Sweden)

Kongkarn Kijroongrojana

2009-11-01

Full Text Available A battered shrimp burger, as a new value-added shrimp product, was developed by increasing the juiciness of a frozen battered shrimp burger using a mixture of hydrocolloids. The formulations of hydrocolloid mixtures containing modified tapioca starch (MTS, sodium alginate (AL, and iota-carrageenan (CA were optimized. Juiciness measurements were defined and analyzed by 13 trained panelists. Texture Profile Analysis (TPA as well as moisture and fat contents of the products were analyzed. The mixture of MTS and AL had an impact on moisture content and juiciness scores, while CA influenced the hardness. The product made using the optimized formulation (0.3% MTS + 0.7% AL had a higher moisture content andjuiciness scores (p0.05. However, higher springiness and gumminess were found in the control burger (p0.05.

Distress Resulting from Perceivers' Own Intimate Partner Violence Experiences Predicts Culpability Attributions toward a Battered Woman on Trial for Killing Her Abuser: A Path Model

Science.gov (United States)

Stein, Michelle L.; Miller, Audrey K.

2012-01-01

Intimate partner violence (IPV) constitutes the majority of assaults against women in the United States, and greater than one third of female homicide victims are murdered by an intimate partner. In a small percentage of cases, battered women kill their abusers, and evidence of battering and its effects may be used to support a plea of…

Performance of cellulose derivatives in deep-fried battered snacks: Oil barrier and crispy properties

NARCIS (Netherlands)

Primo-Martín, C.; Sanz, T.; Steringa, D.W.; Salvador, A.; Fiszman, S.M.; Vliet, T. van

2010-01-01

The performance of batters containing cellulose derivatives (methyl cellulose (A4M), three hydroxypropylmethyl celluloses (E4M, F4M and K4M) with different degree of hydroxypropyl and/or methyl substitution and carboxymethyl cellulose (CMC)) to produce crispy deep-fried snacks crusts was studied by

Child with Landau Kleffner Syndrome Misdiagnosed as Autism: A Case Report

Directory of Open Access Journals (Sweden)

Mohsen Jekan

2013-10-01

Full Text Available Objectives:The aim of this single case study is to describe a child with Landau Kleffner Syndrome who misdiagnosed as a child with autism spectrum disorder. We also explore occupational therapy`s role in correct process for diagnosis and treatment. Methods:Three times measurement with Autism Treatment Evaluation Checklist was performed to measure severity of symptoms and compare treatment outcomes. Results: The outcome showed great improvements after pharmacotherapy. Discussion: Results of this study indicated that correct diagnosis, early detection and early intervention in this disorder are essential to reach a proper treatment. Of course, therapeutic team work is crucial as well. Occupational and speech therapy interventions can also been recommended as a helpful treatment to improve social and sensory-motor and communicative skills. Parent`s consultation should not be ignored to decrease parental stress.

Biofortification of riboflavin and folate in idli batter, based on fermented cereal and pulse, by Lactococcus lactis N8 and Saccharomyces boulardii SAA655.

Science.gov (United States)

Chandrasekar Rajendran, S C; Chamlagain, B; Kariluoto, S; Piironen, V; Saris, P E J

2017-06-01

Lactococcus lactis N8 and Saccharomyces boulardii SAA655 were investigated for their ability to synthesize B-vitamins (riboflavin and folate) and their functional role as microbial starters in idli fermentation. In this study, ultra-high performance liquid chromatography and microbiological assay were used to determine the total riboflavin and folate content respectively. Increased levels of folate were evident in both L. lactis N8 and S. boulardii SAA655 cultivated medium. Enhanced riboflavin levels were found only in S. boulardii SAA655 grown medium, whereas decreased riboflavin level was found in L. lactis N8 cultivated medium. To evaluate the functional role of microbial starter strains, L. lactis N8 and S. boulardii SAA655 were incorporated individually and in combination into idli batter, composed of wet grounded rice and black gram. For the experiments, naturally fermented idli batter was considered as control. The results indicated that natural idli fermentation did not enhance the riboflavin level and depleted folate levels by half. In comparison with control, L. lactis N8 and S. boulardii SAA655 incorporated idli batter (individually and in combination) increased riboflavin and folate levels by 40-90%. Apart from compensating the folate loss caused by natural fermentation, S. boulardii SAA655 fermented idli batter individually and in combination with L. lactis N8 also showed the highest leavening character. Moreover, the microbial starter incorporation did not significantly influence the pH of idli batter. Incorporation of L. lactis N8 and S. boulardii SAA655 can evidently enhance the functional and technological characteristics of idli batter. UN General Assembly declared 2016 the International Year of pulses emphasizing the importance of legumes as staple food. Furthermore, this is the first experimental report of in situ biofortifcation of riboflavin and folate using microbes in pulse based fermented staple food. The current study suggests possible

Benign occipital epilepsy of childhood: Panayiotopoulos syndrome in a 3 year old child

Directory of Open Access Journals (Sweden)

Menon Narayanankutty Sunilkumar , Vadakut Krishnan Parvathy

2014-11-01

Full Text Available Panayiotopoulos syndrome (PS is a relatively frequent and benign epileptic syndrome seen in children in the age group of 3-6 years and is characterised by predominantly autonomic symptoms and/or simple motor focal seizures followed or not by impairment of consciousness. Although multifocal spikes with high amplitude sharp-slow wave complexes at various locations can be present in the EEG, interictal electroencephalogram (EEG in children with this particular type of epilepsy characteristically shows occipital spikes. This syndrome has known to be a masquerader and can imitate gastroenteritis, encephalitis, syncope, migraine, sleep disorders or metabolic diseases. In the absence of thorough knowledge of types of benign epilepsy syndromes and their various clinical presentations, epilepsy such as PS can be easily missed. The peculiar aspects of this type of epilepsy in children should be known not only by paediatricians but also by general doctors because a correct diagnosis would avoid aggressive interventions and concerns on account of its benign outcome. In this case study, we report a case of PS in a 3 year old child.

Clinical abnormalities, early intervention program of Down syndrome children: Queen Sirikit National Institute of Child Health experience.

Science.gov (United States)

Fuengfoo, Adidsuda; Sakulnoom, Kim

2014-06-01

Queen Sirikit National Institute of Child Health is a tertiary institute of children in Thailand, where early intervention programs have been provided since 1990 by multidisciplinary approach especially in Down syndrome children. This aim of the present study is to follow the impact of early intervention on the outcome of Down syndrome children. The school attendance number of Down syndrome children was compared between regular early intervention and non-regular early intervention. The present study group consists of 210 Down syndrome children who attended early intervention programs at Queen Sirikit National Institute of Child Health between June 2008 and January 2012. Data include clinical features, school attendance developmental quotient (DQ) at 3 years of age using Capute Scales Cognitive Adaptive Test/Scale (CAT/CLAMS). Developmental milestones have been recorded as to the time of appearance of gross motor, fine motor, language, personal-social development compared to those non-regular intervention patients. Of 210 Down syndrome children, 117 were boys and 93 were girls. About 87% received regular intervention, 68% attended speech training. Mean DQ at 3 years of age was 65. Of the 184 children who still did follow-up at developmental department, 124 children (59%) attended school: mainstream school children 78 (63%) and special school children 46 (37%). The mean age at entrance to school was 5.8 ± 1.4 years. The school attendance was correlated with maternal education and regular early intervention attendance. Regular early intervention starts have proven to have a positive effect on development. The school attendance number of Down syndrome children receiving regular early intervention was statistically and significantly higher than the number of Down syndrome children receiving non-regular early intervention was. School attendance correlated with maternal education and attended regularly early intervention. Regular early intervention together with maternal

Syndrome Specificity and Mother-Child Interactions: Examining Positive and Negative Parenting across Contexts and Time

Science.gov (United States)

Blacher, Jan; Baker, Bruce L.; Kaladjian, Araksia

2013-01-01

This study examined the extent to which child syndromes and observation context related to mothers' parenting behaviors. Longitudinal observations were conducted of parenting behavior across ages 3, 4, and 5 years during structured and unstructured activities. The 183 participants included mothers of children with autism spectrum disorders,…

Acute cortical deafness in a child with MELAS syndrome.

Science.gov (United States)

Pittet, Marie P; Idan, Roni B; Kern, Ilse; Guinand, Nils; Van, Hélène Cao; Toso, Seema; Fluss, Joël

2016-05-01

Auditory impairment in mitochondrial disorders are usually due to peripheral sensorineural dysfunction. Central deafness is only rarely reported. We report here an 11-year-old boy with MELAS syndrome who presented with subacute deafness after waking up from sleep. Peripheral hearing loss was rapidly excluded. A brain MRI documented bilateral stroke-like lesions predominantly affecting the superior temporal lobe, including the primary auditory cortex, confirming the central nature of deafness. Slow recovery was observed in the following weeks. This case serves to illustrate the numerous challenges caused by MELAS and the unusual occurrence of acute cortical deafness, that to our knowledge has not be described so far in a child in this setting.

Goldenhar Syndrome in Association with Duane Syndrome

Directory of Open Access Journals (Sweden)

U D Shrestha

2012-03-01

Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

The Child Behavior Checklist Dysregulation Profile in Preschool Children: A Broad Dysregulation Syndrome.

Science.gov (United States)

Geeraerts, Sanne Barbara; Deutz, Marike Hester Francisca; Deković, Maja; Bunte, Tessa; Schoemaker, Kim; Espy, Kimberly Andrews; Prinzie, Peter; van Baar, Anneloes; Matthys, Walter

2015-07-01

Children with concurrent impairments in regulating affect, behavior, and cognition can be identified with the Anxious/Depressed, Aggressive Behavior, and Attention Problems scales (or AAA scales) of the Child Behavior Checklist (CBCL). Jointly, these scales form the Dysregulation Profile (DP). Despite persuasive evidence that DP is a marker for severe developmental problems, no consensus exists on the preferred conceptualization and operationalization of DP in preschool years. We addressed this concern by testing and validating the factor structure of DP in a group of predominantly clinically referred preschool children. Participants were 247 children (195 boys and 52 girls), aged 3.5 to 5.5 years. Children were assessed at baseline and 18 months later, using parent and teacher reports, a clinical interview with parents, behavioral observations, and neuropsychological tasks. Confirmatory factor analysis showed that a bifactor model, with a general DP factor and 3 specific factors representing the AAA scales, fitted the data better than a second-order model and a one-factor model for both parent-reported and teacher-reported child problem behavior. Criterion validity analyses showed that the DP factor was concurrently and longitudinally associated with markers of dysregulation and clinically relevant criteria, whereas the specific factors representing the AAA scales were more differentially related to those criteria. DP is best conceptualized as a broad syndrome of dysregulation that exists in addition to the specific syndromes as represented by the AAA scales. Implications for researchers and clinicians are discussed. Copyright © 2015 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

TOWARDS COLLABORATION BETWEEN PUBLIC WELFARE AGENCIES AND MASS ENTERTAINMENT MEDIA TO BRING ABOUT A TURNING POINT STAGE IN THE LIVES OF BATTERED WOMEN

Directory of Open Access Journals (Sweden)

Nourit Segev

2010-06-01

Full Text Available This article examines the promoting and impeding factors that advance the turning point in thelives of battered women. The subject is important because of the contribution of the turning pointstage to the ability of women to leave the violent relationship and the way in which the publicwelfare agencies become involved in order to help the victim to advance towards the turning point.The article also reviews the influence of the entertainment media in shaping the positions of thepublic regarding marital violence, the presentation of battered women in the media, and theconnection between their media presentation and their advancement towards the turning point inreality.The research is based on a combination of qualitative and quantitative data, and focuses on contentanalysis. The qualitative content analysis included 40 journal articles, 1 documentary film and onedrama series, the personal interviews included 8 social workers and 6 journalists, and the focusgroup included 8 battered women. The findings indicate an awareness of battered women in thevarious media, and of a gap between the perception of social workers and the journalists regardingthe role of the media in raising social problems.The article calls for cooperation between the media and the professionals in order to construct messages of empowerment that will enable women to advance towards the turning point in theirlives.

Buffer Rod Design for Measurement of Specific Gravity in the Processing of Industrial Food Batters

DEFF Research Database (Denmark)

Fox, Paul D.; Smith, Penny Probert

2002-01-01

A low cost perspex buffer rod design for the measurement of specific gravity during the processing of industrial food batters is reported. Operation was conducted in pulsed mode using a 2.25 MHz, 15 mm diameter transducer and the intensity and an analytic calibration curve relating buffer rod...

Shah-Waardenburg syndrome: a case highlighting the importance of a holistic approach to assessing a child.

Science.gov (United States)

Patil, Amogh; Prathyusha, Lanka; Patil, Muganagowda

2017-12-22

We present the case of a 45-day-old child with the chief complaint of failure to pass stools for 10 days. After initial investigation, the patient was found to have Hirschsprung's disease. However, with further examination and analysis, the extremely rare diagnosis of type 4 Waardenburg syndrome was made (also known as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung's disease). © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Integrating the Principles of Effective Intervention into Batterer Intervention Programming: The Case for Moving Toward More Evidence-Based Programming.

Science.gov (United States)

Radatz, Dana L; Wright, Emily M

2016-01-01

The majority of batterer intervention program (BIP) evaluations have indicated they are marginally effective in reducing domestic violence recidivism. Meanwhile, correctional programs used to treat a variety of offenders (e.g., substance users, violent offenders, and so forth) that adhere to the "principles of effective intervention" (PEI) have reported significant reductions in recidivism. This article introduces the PEI-the principles on which evidence-based practices in correctional rehabilitation are based-and identifies the degree to which they are currently integrated into BIPs. The case is made that batterer programs could be more effective if they incorporate the PEI. Recommendations for further integration of the principles into BIPs are also provided. © The Author(s) 2015.

Shaken Baby Syndrome

Science.gov (United States)

... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse × What research is being done? The National ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse See More About Research The National Institute ...

Hydrologic Analysis of Ungauged Catchments For The Supply of Water For Irrigation On Railway Embankment Batters

Science.gov (United States)

Gyasi-Agyei, Y.; Nissen, D.

Water has been identified as a key component to the success of grass establishment on railway embankment batters (side slope) within Central Queensland, Australia, to control erosion. However, the region under study being semi-arid experiences less than 600 mm average annual rainfall occurring on about 60 days of the year. Culverts and bridges are integral part of railway embankments. They are used to cross water courses, be it an ephemeral creek or just a surface runoff path. Surface runoff through an ungauged railway embankment culvert is diverted to a temporary excavated pond located at the downstream side of the hydraulic structure. The temporary excavated pond water is used to feed an automated drip irrigation system, with solar as a source of energy to drive a pump. Railway embankment batter erosion remediation is timed in the wet season when irrigation is used to supplement natural rainfall. Hydrologic analysis of ungauged catchments for sizing the temporary excavated pond is presented. It is based on scenarios of runoff coefficient and curve number, and mass curve (Rippl diagram). Three years of continuous rainfall data (1997/1998 -1999/2000) were used to design a pond. The performance of the designed pond was evaluated in a field experiment during the next wet season (2000/2001). It supplied adequate water for irrigation as predicted by the hydrologic analysis during the grass establishment. This helped to achieve 100% grass cover on the railway embankment batter within 12 weeks. The proposed irrigation system has been demonstrated t o be feasible and cost effective.

Needle breakage during an inferior alveolar nerve block in a child with KBG syndrome: A case report.

Science.gov (United States)

Bagattoni, S; D'Alessandro, G; Marzo, G; Piana, G

2018-04-01

Needle breakage during the administration of dental analgesia is an extremely rare event. A case of needle breakage during the administration of an inferior alveolar nerve block occurred in a child with KBG syndrome. During the injection, a sudden movement of the child caused the breakage of the needle. The next day, the retrieval of the needle was performed surgically under general analgesia. Three months after the surgery the healing was good. Two years later the child underwent a dental extraction with the aid of nitrous oxide/oxygen analgesia/anxiolysis. Needle fracture is a possible event during the administration of dental analgesia in children.

Separating Batterers and Guns: A Review and Analysis of Gun Removal Laws in 50 States

Science.gov (United States)

Frattaroli, Shannon; Vernick, Jon S.

2006-01-01

Firearms play an important role in lethal domestic violence incidents. The authors review state laws regarding two policies to separate batterers from firearms: laws authorizing police to remove firearms when responding to a domestic violence complaint ("police gun removal laws") and laws authorizing courts to order guns removed from batterers…

Classic Bartter syndrome: a rare cause of failure to thrive in a child

OpenAIRE

Vieira, Helena; Mendes, Leonor; Mendes, Patricia; da Silva, José Esteves

2012-01-01

Bartter syndrome is a group of rare autosomal-recessive disorders caused by a defect in distal tubule transport of sodium and chloride. Blood gases and plasma electrolytes raise suspicion of this diagnosis and the definitive diagnosis is made by genetic study. Early treatment improves prognosis. The authors present the case of an 11-month-old child with early failure to thrive and severe regurgitation. Blood gases revealed hypochloraemic metabolic alkalosis, hyponatraemia and hypokalaemia. Bl...

Discussions of Fatherhood in Male Batterer Treatment Group

Directory of Open Access Journals (Sweden)

Anu Veteläinen

2013-06-01

Full Text Available The aim of this study was to examine how men who have perpetrated violence toward their partners and participated in batterer group talked about being a father and how they perceived their own fatherhood. The discussion in the group was analyzed qualitatively by using the methods of content analysis. In traditional fatherhood, they talked about avoidant, passiveness, distant, indifference, and authoritative controlling ways of acting. These men also created an image of themselves as active and caring fathers, thus including empathy and nurture in the concept of fatherhood. This new fatherhood was considered an achieved goal and an objective for the men as being a father. Talking about fatherhood in these groups is important as fatherhood and relations to children are both an important motivator toward nonviolence.

Successful anesthetic management of a child with blepharophimosis syndrome and atrial septal defect for reconstructive ocular surgery

Directory of Open Access Journals (Sweden)

Dalim Kumar Baidya

2011-01-01

Full Text Available Blepharophimosis syndrome is an autosomal dominant disorder characterized by eyelid malformation, involvement of reproductive system and abnormal facial morphology leading to difficult airway. We report a rare association of blepharophimosis syndrome and atrial septal defect in a 10-year-old girl who came for reconstruction surgery of eyelid. The child had dyspnea on exertion. Atrial septal defect was identified preoperatively by clinical examination and echocardiography. Anesthesia management was complicated by failure in laryngeal mask airway placement and Cobra perilaryngeal airway was subsequently used.

Idiopathic Fanconi's syndrome with nephrogenic diabetes insipidus in a child who presented as vitamin D resistant rickets--a case report and review of literature.

Science.gov (United States)

Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

2011-01-01

Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium and magnesium. Diabetes insipidus is a disease of collecting tubules and a child mainly presents with dehydration and hypernatremia. We report the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus (NDI) in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi's syndrome. We hypothesized that the NDI may be due to severe hypokalemia induced tubular dysfunction. The child was treated for hypophosphatemic rickets with severe metabolic acidosis and the treatment for NDI was also given. Now he has healed rickets and normal blood pH, sodium and osmolarity.

Pyogenic liver abscess and peritonitis due to Rhizopus oryzae in a child with Papillon-Lefevre syndrome.

Science.gov (United States)

Dalgic, Buket; Bukulmez, Aysegul; Sari, Sinan

2011-06-01

Papillon-Lefevre syndrome (PLS) is an autosomal recessive disease that is characterized by symmetric palmoplantar keratodermatitis and severe periodontal destruction. Mutations in the cathepsin C gene (CTSC) have recently been detected in PLS. Immune dysregulation, due to a mutation in CTSC, increases the risk of pyogenic infections in PLS patients. A child with PLS is presented here with liver abscesses and peritonitis caused by Rhizopus oryzae. His liver abscess and peritonitis were cured with amphotericin B without surgical care. This is the first case in the literature liver abscess due to Rhizopus oryzae in a child with PLS.

Adopted preschool child with ADHD

OpenAIRE

STAŇKOVÁ, Iveta

2016-01-01

This bachelor´s work was written based on personal experience and practice with a family in which a pre-school child with ADHD syndrom lives. The intended objective is to provide pieces of advice to many parents. This work could serve as a guide in searching effective strategies for a child with attention and hyperactivity deficit disorder. The second objective is to share experience and educational methods when dealing with an adopted child diagnosed with the ADHD syndrom at the age of three...

Rating parent-child interactions: joint engagement, communication dynamics, and shared topics in autism, Down syndrome, and typical development.

Science.gov (United States)

Adamson, Lauren B; Bakeman, Roger; Deckner, Deborah F; Nelson, P Brooke

2012-12-01

A battery of 17 rating items were applied to video records of typically-developing toddlers and young children with autism and Down syndrome interacting with their parents during the Communication Play Protocol. This battery provided a reliable and broad view of the joint engagement triad of child, partner, and shared topic. Ratings of the child's joint engagement correlated very strongly with state coding of joint engagement and replicated the finding that coordinated joint engagement was less likely in children with autism. Ratings of other child actions, of parent contributions, and of shared topics and communicative dynamics also documented pervasive variations related to diagnosis, language facility, and communicative context.

[Resilience, spirituality, distress and tactics for battered women's conflict resolution].

Science.gov (United States)

Jaramillo-Vélez, Diva E; Ospina-Muñoz, Doris E; Cabarcas-Iglesias, Germán; Humphreys, Janice

2005-01-01

Determining the relationship of resilience and spirituality in battered women to distress, the frequency and intensity of mistreatment and the severity of injury. A sample was taken of 199 women who consulted Comisarías de Familia de Medellín, Colombia (family police/counselling stations). Resilience scales (RS), spiritual perspective (SPS), SCL-90R and conflict tactics (CTS) were used. Internal consistency, correlation and main exploratory components were measured. The scales revealed internal consistency. Resilience was positively correlated to spirituality (r = 0.22; p = 0.0015) and negatively correlated to total positive distress symptoms (PST) (r = -0.39; p spirituality, a lower number of positive distress symptoms and less distress.

Male batterers' alcohol use and gambling behavior.

Science.gov (United States)

Brasfield, Hope; Febres, Jeniimarie; Shorey, Ryan; Strong, David; Ninnemann, Andrew; Elmquist, Joanna; Andersen, Shawna M; Bucossi, Meggan; Schonbrun, Yael C; Temple, Jeff R; Stuart, Gregory L

2012-03-01

Little work has examined the interrelations among intimate partner violence (IPV), alcohol use, and gambling behavior, and no studies have examined these relationships among males court-ordered to batterer intervention programs (BIPs). The aim of the current investigation was to explore the associations between IPV, alcohol use, and gambling behavior among 341 males court-mandated to attend BIPs utilizing self-report measures. Voluntary, anonymous questionnaires were administered and completed during regularly scheduled BIP sessions. Compared to the general population, a higher percentage of the sample met criteria for pathological gambling (9%), and problem gambling (17%). Further, males exhibiting pathological gambling were more likely to be hazardous drinkers, and hazardous drinkers were more likely to exhibit pathological gambling. Additionally, pathological gamblers were at an increased risk for the perpetration of both physical and sexual aggression. Finally, gambling behavior uniquely predicted the perpetration of sexual aggression above and beyond alcohol use, impulsivity, and relationship satisfaction. The implications of these results for future research and intervention are discussed.

Effect of virgin coconut meal (VCM) on the rheological, micro-structure and baking properties of cake and batter.

Science.gov (United States)

Srivastava, Yashi; Semwal, Anil Dutt

2015-12-01

Virgin coconut meal (VCM) cakes were prepared by replacing refined wheat flour (maida) (5 to 20 % level) to check its effect on chemical, textural and rheological attributes of cake. The addition of VCM significantly (p ≤ 0.05) increased redness (a*), yellowness (b*) while reduced lightness (L*) of cakes. The incorporation of VCM affects the hardness, adhesiveness gumminess and chewiness of cake. The effect of flour replacement with VCM increased the viscosity of batter which leads to increase in consistency index and lower the shearthining behavior. The viscoelastic behavior of cake batter in which elastic modulus (G') and viscous modulus (G") both were decreased with the increase in percentage of VCM. The differential scanning calorimetry (DSC) analysis revealed that the onset (To), end set (Tc) and enthalpy of gelatinization (ΔH) increased with the increased level of VCM.

Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome

Directory of Open Access Journals (Sweden)

Kerry Morrone

2010-01-01

Full Text Available Background. Chediak-Higashi syndrome (CHS is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, immunodeficiency, coagulopathy and late-onset, progressive neurological dysfunction. It also has an “accelerated phase” characterized by hemophagocytic lymphohistiocytosis (HLH. The disease is caused by mutations in the CHS1/LYST gene located on chromosome 1, which affects lysosome morphology and function. We report the case of an African-American child with CHS in Case. This 16-month old African-American girl presented with fever and lethargy. The proband had pale skin compared to her parents, with light brown eyes, silvery hair and massive hepatosplenomegaly. Her laboratory evaluation was remarkable for pancytopenia, high serum ferritin and an elevated LDH. Bone marrow aspirate revealed large inclusions in granulocytes and erythrophagocytosis consistent with HLH. Genetic evaluation revealed two novel nonsense mutations in the CHS1 gene: c.3622C>T (p.Q1208X and c.11002G>T (p.E3668X. Conclusions. Our patient is one of the few cases of CHS reported in the African American population. We identified 2 nonsense mutations in the CHS1 gene, the first mutation analysis published of an African-American child with Chediak-Higashi Syndrome. These two mutations predict a severe phenotype and thus identification of these mutations has an important clinical significance in CHS.

Proteus syndrome in a child aged 14 years and 11 months

Directory of Open Access Journals (Sweden)

T. V. Elizarova

2017-01-01

Full Text Available Proteus syndrome is an extremely rare genetic disorder with problematic genetic identification. It has been hypothesized that it is related to a lethal dominant somatic mutation occurring at a post-zygotic stage of embryonic development. Clinical presentation of the disease has much in common with a  number of hereditary disorders and is frequently associated with malignancies. We present a clinical case of Proteus syndrome in a child aged 14 years and 11 months, in whom late diagnosis and late administration of specific treatment resulted in disease progression with the development of the end stage chronic renal disease. Only correct and early diagnosis allows for timely referral of a  patient to a specialized hospital for adequate care.

Imaging findings in a child with calcineurin inhibitor-induced pain syndrome after bone marrow transplant for beta thalassemia major

Energy Technology Data Exchange (ETDEWEB)

Ayyala, Rama S.; Arnold, Staci D.; Bhatia, Monica; Dastgir, Jahannaz [Columbia University Medical Center, Morgan Stanley Children' s Hospital, Department of Radiology, New York, NY (United States)

2016-10-15

Calcineurin inhibitor-induced pain syndrome is an entity recognized in patients on immunosuppressive therapy after transplantation. Diagnosis is characterized by onset of pain beginning in the setting of an elevated calcineurin-inhibitor trough level. Reducing the medication dose relieves symptoms. Imaging findings can be nonspecific, including bone marrow edema and periosteal reaction. We present the unique case of calcineurin inhibitor-induced pain syndrome in a child and review the imaging findings. (orig.)

Imaging findings in a child with calcineurin inhibitor-induced pain syndrome after bone marrow transplant for beta thalassemia major

International Nuclear Information System (INIS)

Ayyala, Rama S.; Arnold, Staci D.; Bhatia, Monica; Dastgir, Jahannaz

2016-01-01

Calcineurin inhibitor-induced pain syndrome is an entity recognized in patients on immunosuppressive therapy after transplantation. Diagnosis is characterized by onset of pain beginning in the setting of an elevated calcineurin-inhibitor trough level. Reducing the medication dose relieves symptoms. Imaging findings can be nonspecific, including bone marrow edema and periosteal reaction. We present the unique case of calcineurin inhibitor-induced pain syndrome in a child and review the imaging findings. (orig.)

Functional MRI of a child with Alice in Wonderland syndrome during an episode of micropsia

Science.gov (United States)

Brumm, Kathleen; Walenski, Matthew; Haist, Frank; Robbins, Shira L.; Granet, David B.; Love, Tracy

2010-01-01

Background Alice in Wonderland syndrome is a perceptual disorder involving brief, transient episodes of visual distortions (metamorphopsia) and can occur in conjunction with certain viral infections. We used functional magnetic resonance imaging to examine visual processing in a 12-year-old boy with viral-onset Alice in Wonderland syndrome during an episode of micropsia (reduction in the perceived size of a form). Methods Functional magnetic resonance imaging was conducted in response to a passive viewing task (reversing checkerboard) and an active viewing task (line-length decisions in the context of the Ponzo illusion). Results In both tasks, the child with Alice in Wonderland syndrome showed reduced activation in primary and extrastriate visual cortical regions but increased activation in parietal lobe cortical regions as compared to a matched control participant. Conclusions The active experience of micropsia in viral-onset Alice in Wonderland syndrome reflects aberrant activity in primary and extrastriate visual cortical regions as well as parietal cortices. The disparate patterns of activity in these regions are discussed in detail. PMID:20598927

Parents' leisure: the impact of raising a child with Down syndrome.

Science.gov (United States)

Wayne, Deborah O'Mullan; Krishnagiri, Sheama

2005-01-01

A healthy and productive life depends upon the balance between work, leisure, and activities of daily living. Gaining or regaining that balance is a core concept within occupational therapy. Raising a child with special needs is one factor that challenges parents in achieving a balance. The purpose of this research was to describe factors that affect the leisure occupations of these parents. A qualitative approach was used in which in-depth interviews and the adapted Barth Time Construction were administered to four married couples that were raising children with Down syndrome who were between seven and nine years of age. Data was examined through content analysis. Results indicated that the parents of children with Down syndrome had limitations in time available for leisure, changes in types of leisure engaged in, and an increase in planning for leisure activities. Despite overall satisfaction with the manner in which they allocated their time, parents frequently noted the potential benefits of incorporating more leisure into their daily lives. Limitations of the study include type and size of sample.

Searching for Housing as a Battered Woman: Does Discrimination Affect Reported Availability of a Rental Unit?

Science.gov (United States)

Barata, Paula C.; Stewart, Donna E.

2010-01-01

Individual battered women have reported experiencing housing discrimination, but the extent of this problem has not been examined. This research used two experiments and a survey to determine if landlord discrimination could keep women from accessing rental units. In Study 1, a confederate asked 181 landlords about the availability of a rental…

THE LIVED EXPERIENCES OF BLACK AFRICAN MOTHERS FOLLOWING THE BIRTH OF A CHILD WITH DOWN SYNDROME: IMPLICATIONS FOR INDIGENISATION OF SOCIAL WORK

Directory of Open Access Journals (Sweden)

Mathebane, Mbazima

2016-08-01

Full Text Available The article discusses the lived experiences of black African mothers following the birth of a child with Down syndrome and implications of this for the indigenisation of social work practice in South Africa. A retrospective qualitative study following a phenomenological design was undertaken. Findings indicated that giving birth to a child with Down syndrome evokes intense psychological and social reactions from the mother, family and community. The cultural norms and values of black African people, including principles of ubuntu and their belief in collectivism, provide important opportunities, support systems and resources that could be pooled for efficient and effective helping intervention.

Influence of waxy rice flour substitution for wheat flour on characteristics of batter and freeze-thawed cake.

Science.gov (United States)

Jongsutjarittam, Nisachon; Charoenrein, Sanguansri

2013-09-12

This study aimed to improve the freeze-thawed cake properties by10-20% waxy rice flour (WRF) substitution for wheat flour (WF). Viscosity of WRF-substituted batters was lower; consequently, trapped air was less uniformly distributed than WF batter. After five freeze-thaw cycles, firmness and enthalpy of melting retrograded amylopectin of WF- and WRF-substituted cakes increased and the matrix surrounding the air pores from SEM images was denser than in fresh-baked cakes. Sensory evaluation showed an increase in firmness and a decrease in firmness acceptability of freeze-thawed cakes. However, freeze-thawed cake with WRF substitution had significantly less firmness, less dense matrix and more acceptability than WF cake. This could have been due to a low amylose content of WRF and the spread of ruptured waxy rice starch granules around swollen wheat starch granules as observed by CLSM. Thus, WRF could be used for WF substitution to improve the firmness in freeze-thawed cake. Copyright © 2013 Elsevier Ltd. All rights reserved.

Parenting of children with Down syndrome compared to fragile X syndrome.

Science.gov (United States)

Sterling, Audra; Warren, Steven F

2018-01-01

Children with Down syndrome (DS) and fragile X syndrome (FXS) struggle with language development. Parenting variables, such as responsiveness to children's communication attempts (Maternal Responsivity), and techniques used to support and teach appropriate behavior (Behavior Management) are known to have a significant impact on early child development. We examined these two aspects of parenting style via coded, videotaped parent-child interactions in two groups of participants matched on child age (2-5 years) and child expressive language level: mothers of children with DS and mothers of children with FXS. The mothers differed in their use of gestures and redirecting the child's attention. Overall, mothers in both groups of children appeared to adapt appropriately to their children's developmental needs.

Child maltreatment syndrome: demographics and developmental issues of inpatient cases.

Science.gov (United States)

Ngiam, Xin Ying; Kang, Ying Qi; Aishworiya, Ramkumar; Kiing, Jennifer; Law, Evelyn Chung Ning

2015-11-01

This study aimed to describe the demographic, social, developmental and behavioural profile of children hospitalised for alleged child maltreatment syndrome (CMS). This study was a retrospective review of the consecutive inpatient records of children (0-16 years) admitted to the National University Hospital, Singapore, for alleged CMS over a three-year period. Descriptive data on the demographic characteristics, alleged maltreatment, medical and developmental histories, and family background of these children were collected and analysed. Chi-square statistics were used to test whether family factors were associated with the type of maltreatment and the presence of developmental disorders. A total of 89 children, who accounted for 90 admission cases, were studied. Physical abuse (70.0%) was the most common, followed by neglect (11.1%) and sexual abuse (7.8%). Child protection services had already been involved in 29.2% of the cases prior to the child's admission. Children who were victims of abuse were more likely to come from homes with a prior history of domestic violence (p = 0.028). Financial difficulty was found to be a risk factor for neglect (p = 0.005). Among the 89 children, 15.7% were found to have developmental disorders and 10.1% had mental health diagnoses. Children who had developmental disorders were more likely to have a parent with a mental health disorder (p = 0.002). A sizeable proportion of the children admitted for alleged CMS had developmental or behavioural disorders. Clinicians have a role in ensuring that these children have appropriate follow-up plans. Children from high-risk families should be screened for maltreatment.

The syndromic child and anaesthesia

African Journals Online (AJOL)

fourth and sixth arches give rise to the larynx and trachea, and ... Keywords: anaesthesia, syndrome, atlantoaxial joint, branchial arches, Down's syndrome, 22q11 deletion .... which causes proximal weakness and a high risk of malignant.

Characterisation of corn extrudates with the addition of brewers' spent grain as a raw material for the production of functional batters.

Science.gov (United States)

Żelaziński, Tomasz; Ekielski, Adam; Siwek, Adam; Dardziński, Leszek

2017-01-01

Novel food batters, recommended for various products, are at present manufactured by extru- sion. Thanks to this, it is possible to look for and process new raw materials, if their processing has so far been considered impossible or economically unviable. The purpose of the work was therefore to investigate the extrudates produced from the corn and brewers' spent grain compounds that are subsequently used as raw material for food batter production. The work presents the findings of research on extrusion of corn mixes with varying levels of brewers' spent grains, to the maximum amount of 30%. Tests were conducted using a co-rotating double screw extruder, equipped with a single-outlet matrix with a diameter of 2.5mm. The products obtained were subjected to analysis of their parameters (apparent density, strength parameters, abrasiveness index) and the granulation of a single fraction was checked. The sample for which the percentage content was the highest was subjected to a detailed analysis of particle shape using vision software. It was found that an increase in the content of brewers' spent grains resulted in increased hardness of the products obtained. During the tests it was observed that the increasing hardness of the measured sam- ples is opposite to their abrasion resistance. The maximum decrement of the brasion parameters was seen for extrudates with 30% spent grain addition and was 1.4%, while the minimum decrement values for extrudates with brewers' grain content (10%) amounted to 0.85%. It was noted that this may prove the high brittleness of such products, particularly on the outer surface. It was also observed that lower grindability was recorded for samples produced by extrusion at a temperature of 140°C. On the other hand, higher grindability obtained at a temperature of 120°C may facilitate the grinding of such products, which may be particularly important in the production of food batter. Brewers' spent grains used as an addition to corn groats

Recurrent ovarian Sertoli?Leydig cell tumor in a child with Peutz?Jeghers syndrome

OpenAIRE

Bellfield, Edward J.; Alemzadeh, Ramin

2016-01-01

We present a female child with Peutz?Jeghers syndrome (PJS) with a recurrent ovarian Sertoli?Leydig cell tumor (SLCT). SLCTs are relatively rare sex cord neoplasms that can occur in PJS. The patient was an African-American female who first presented at the age of 3 years with precocious puberty, and then at the age of 17 years with abdominal pain and irregular menses. In each case, she had resection of the mass, which included oophorectomy. To our knowledge, this is the first reported case in...

Communication from the news of the birth of a child with Down Syndrome: the effect of a discouraging prediction

Directory of Open Access Journals (Sweden)

Gloria M. Alcaraz L

2011-05-01

Full Text Available Objective: to know how health workers give the news of the birth of a child with Down syndrome (ds. Methodology: qualitative, ethnographic. Involved 20 mothers and one grandmother were semistructured interviews and field observations. Results: the news of the birth of the child with ds occurs in a cold, dehumanized, from an unresolved disability. Discussions: mothers perceived health workers disregard for their circumstances. Most will convey the idea of an abnormal child with a disability that will create many problems. The way that mother receive the news is not conducive to meeting with the child, and puts in uncertainty the future vision of mother-child relationship. Conclusions: the health academically untrained to break the news of the birth of a child with ds and sensitivity to support her in meeting her son. Recommendations: to prepare students in the areas of health to provide different types of news in humanizing environment in which it has much value as the biological and social psicoafective

Rheological and microstructural properties of beef sausage batter formulated with fish fillet mince.

Science.gov (United States)

Hashemi, Ala; Jafarpour, Ali

2016-01-01

Rheological properties and microstructure of beef meat sausage batter, incorporated with different percentages of fish fillet mince (5 %, 20 %, 35 % and 50 %), were investigated and compared to the control (0 % fish). By increasing the proportion of fish fillet mince to the sausage formula up to 35 % and 50 %, hardness was increased by 40 % and 16 %, respectively, (P  0.05). In terms of temperature sweep test, storage modulus (G') of control sample faced a substantial slop from 10 °C to 58 °C, corresponding to the lowest magnitude of G' at its gelling point (~58°), but completed at around 70 °C, as same as the other treatments. Whereas the gelling point of batter sample with 50 % fish mince remained at nearly 42 °C, which was remarkably lowest among all treatments, indicating the better gel formation process. SEM micrographs revealed a previous orderly set gel before heating in all treatments whereas after heating up to 90 °C gel matrices became denser with more obvious granular pattern and aggregated structure, specifically in sample with 50 % fish mince. In conclusion, addition of fish mince up to 50 % into beef sausage formula, positively interacted in gel formation process, without diminishing its rheological properties.

Experience of the diagnosis and observation of a child with wolf-hirschhorn syndrome

Directory of Open Access Journals (Sweden)

L.V. Besh

2017-02-01

Full Text Available Modern data about the causes, course peculiarities, principles of diagnosis and symptomatic treatment of Wolf-Hirshhorn syndrome are given in the article. The description of own clinical case is presented. In most cases, there are multiple developmental abnormalities, in particular heart and kidney defects. External symptoms include: the unusual structure of the skull (“ancient warrior’s helmet”, straight bridge of the nose, moderately severe microcephaly, hypertelorism, small mouth with drooping corners, abnormal auricle’s forms, also cleft lip and cleft palate, eyeballs anomalies, hypospadias, feet deformity. Hemangiomas of the skin are often presented, they are usually flat, small and located on the face. Muscle hypotonia, significantly reduced reaction to external stimuli are revealed during the examination. The diagnosis is based on clinical changes and is confirmed by the DNA research. Deletion of the short arm of chromosome 4 is detected in approximately 80 % of probands. The description of own clinical observation of a child with Wolf-Hirshhorn syndrome, confirmed at the age of 3 months, is presented. Despite the early detection of the syndrome and prescribed appropriate therapy, the disease has a poor prognosis.

Batterer intervention programs in Spain: The professionals perspective

Directory of Open Access Journals (Sweden)

Victoria A. Ferrer-Perez

2016-12-01

Full Text Available The Organic Law 1/2004 of 28 December on Integrated Protection Measures against Gender Violence has had, among other consequences, the generalization of intervention programs for batterers in cases of gender violence. The objective of this research is to explore the point of view of specialized professionals about these programs. For this purpose a qualitative methodology was used, by applying semi-structured interviews to 65 key informants, i.e. professionals with experience in implementing and/or managing and evaluating such programs. In general, these professionals were satisfied with the programs in which they had participated and they valued them positively. They considered that certain characteristics of participants and of the programs themselves contribute to promoting or hindering their success and also that they could obtain better results by customizing interventions. These results provide valuable information for understanding the difficulties encountered in implementing these programs and to improve them.

Seckel syndrome: an overdiagnosed syndrome.

OpenAIRE

Thompson, E; Pembrey, M

1985-01-01

Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

Good cognitive performances in a child with Prader-Willi syndrome.

Science.gov (United States)

Nugnes, Rosa; Zito, Eugenio; Mozzillo, Enza; Camarca, Maria Erminia; Riccio, Maria Pia; Terrone, Gaetano; Melis, Daniela; Bravaccio, Carmela; Franzese, Adriana

2013-11-15

We report the case of a child affected by Prader-Willi syndrome (PWS) with good cognitive performances and without relevant behavioral abnormalities.The diagnosis of PWS, suspected on the basis of clinical features and past history, was confirmed by DNA methylation analysis. Additional genetic testing revealed a maternal uniparental disomy. Intellectual profile was analyzed by WISC-III and Raven's Progressive Matrices CPM, while the behavior was evaluated by K-SADS-PL and Child Behavior Checklist/4-18 to the parents.WISC-III test showed a Total Intelligence Quotient (T-IQ = 79) at the border level for age. The Verbal Intelligence Quotient (V-IQ) showed a lower score than the Performance Intelligence Quotient (P-IQ) (78 and 85, respectively). Raven's Matrices CPM showed an intelligence level at 75-90° percentile for age. Concerning behavioral evaluation, a difficulty in impulse control was observed, with persistent but controllable search for food, without a clear psychopathological meaning. Also according to K-SADS-PL no areas of psychopathological dimensions were detected. In conclusion, in presence of consisting clinical features of PWS and high diagnostic suspicion, the diagnosis of PWS should be considered even in presence of a borderline IQ and in absence of psychopathological abnormalities.

Probable Association of Tachyarrhythmia With Nebulized Albuterol in a Child With Previously Subclinical Wolff Parkinson White Syndrome

Science.gov (United States)

Kroesen, Michiel; Maseland, Machiel; Smal, Jaime; Reimer, Annet; van Setten, Petra

2012-01-01

We present the case of a 2-year-old asthmatic boy with atrioventricular (AV)-reentry tachycardia following albuterol inhalation, who was later diagnosed with Wolff-Parkinson-White (WPW) syndrome. The Naranjo adverse drug reaction probability scale score for this adverse event was 7, indicating that the association between his AV-reentry tachycardia and inhalation of albuterol is probable. To our knowledge, this is the first case report that shows the potential arrhythmogenic effects of albuterol in a child with WPW syndrome. We urge clinicians to be aware of this potentially life-threatening adverse effect and to closely monitor these patients when they need beta-adrenergic drugs in case of emergency. Furthermore, this report highlights the dilemma regarding the safe treatment of pediatric patients with both asthma and WPW syndrome. PMID:23118663

Domestic violence: the role of the mental health expert.

Science.gov (United States)

Packer, I K

1990-01-01

Mental health experts are often called upon to testify in trials of battered woman who have killed their husbands. Such experts have an important role to play in educating both the public and the legal profession about the Battered Woman Syndrome.

Three-year-old child with middle aortic syndrome treated by endovascular stent implantation.

Science.gov (United States)

Moszura, Tomasz; Goreczny, Sebastian; Dryzek, Pawel; Niwald, Marek

2013-04-01

Middle aortic syndrome (MAS) is an extremely rare anomaly and represents both a diagnostic and therapeutic challenge, particularly in young children. A case of a 3.5 year-old child with MAS and arterial hypertension is reported, where owing to the patient's young age and the length of the hypoplastic aortic segment, surgical correction with end-to-end anastomosis was not feasible. Instead of palliative bypass grafting between the thoracic and abdominal aorta, successful percutaneous balloon angioplasty and stenting of the lesion was performed with the assistance of three-dimensional rotational angiography.

Can parents adjust to the idea that their child is at risk for a sudden death?: Psychological impact of risk for Long QT Syndrome

NARCIS (Netherlands)

Hendriks, Karin S. W. H.; Grosfeld, F. J. M.; van Tintelen, J. P.; van Langen, I. M.; Wilde, A. A. M.; van den Bout, J.; ten Kroode, H. F. J.

2005-01-01

Can a parent adjust to the idea that its child is at risk for a sudden death? This question is raised by a diagnostic procedure in which children were tested for an inherited Long QT Syndrome (LQTS). This potentially life-threatening but treatable cardiac arrhythmia syndrome may cause sudden death,

Can parents adjust to the idea that their child is at risk for a sudden death? : Psychological impact of risk for Long QT Syndrome

NARCIS (Netherlands)

Hendriks, Karin S. W. H.; Grosfeld, FJM; van Tintelen, JP; van Langen, IM; Wilde, AAM; van den Bout, J; ten Kroode, HFJ

2005-01-01

Can a parent adjust to the idea that its child is at risk for a sudden death? This question is raised by a diagnostic procedure in which children were tested for an inherited Long QT Syndrome (LQTS). This potentially life-threatening but treatable cardiac arrhythmia syndrome may cause sudden death,

Senior-loken syndrome in a Saudi child

International Nuclear Information System (INIS)

Al-Fadhel, M.; Al-Amir, A.

2008-01-01

Senior-loken syndrome is a rare syndrome of retinopathy and nephronophthisis. The clinical features of this syndrome include renal involvement, ocular involvement, retinitis pigmentosa and other systemic involvement. We describe an 11- year-old Saudi girl who was diagnosed to have this syndrome. To the best of our knowledge, this is the first report of this syndrome from Arabian Peninsula. (author)

Munchausen syndrome and Munchausen syndrome by proxy in dermatology.

Science.gov (United States)

Boyd, Alan S; Ritchie, Coleman; Likhari, Sunaina

2014-08-01

Patients with Munchausen syndrome purposefully injure themselves, often with the injection of foreign materials, to gain hospital admission and the attention associated with having a difficult-to-identify condition. Munchausen syndrome by proxy occurs when a child's caregiver, typically the mother, injures the child for the same reasons. Cases of Munchausen syndrome and Munchausen syndrome by proxy with primary cutaneous involvement appear to be rarely described in the literature suggesting either that diagnosis is not made readily or that it is, in fact, an uncommon disorder. At the center of both conditions is significant psychological pathology and treatment is difficult as many patients with Munchausen syndrome when confronted with these diagnostic possibilities simply leave the hospital. Little is known about the long-term outcome or prognosis of these patients. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Senior-Loken Syndrome in a Saudi Child

Directory of Open Access Journals (Sweden)

AlFadhel Majid

2008-01-01

Full Text Available Senior-Loken syndrome is a rare syndrome of retinopathy and nephrono-phthisis. The clinical features of this syndrome include renal involvement, ocular involve-ment, retinitis pigmentosa and other systemic involvement. We describe an 11-year-old Saudi girl who was diagnosed to have this syndrome. To the best of our knowledge, this is the first report of this syndrome from the Arabian Peninsula.

Anesthesia in a child operated for cleft lip associated with Patau's syndrome

Directory of Open Access Journals (Sweden)

Manoj Kamal

2018-03-01

Full Text Available Patients with Patau's syndrome (Trisomy 13 have multiple craniofacial, cardiac, neurological and renal anomalies with very less life expectancy. Among craniofacial anomalies cleft lip and palate are common. These craniofacial and cardiac anomalies present difficulties with anesthesia. We therefore describe the anesthetic management in the case of a Trisomy 13 child for operated for cleft lip at 10 months of age. Resumo: Os pacientes com síndrome de Patau (trissomia 13 apresentam várias anomalias craniofaciais, cardíacas, neurológicas e renais, com expectativa de vida bem menor. Entre as anomalias craniofaciais, o lábio leporino e a fenda palatina são comuns. Essas anomalias craniofaciais e cardíacas apresentam dificuldades na anestesia. Portanto, descrevemos o manejo anestésico em uma criança de 10 meses de idade com Trissomia 13 submetida à cirurgia de lábio leporino. Keywords: Patau's syndrome, Cleft lip, Cleft palate, Paediatric anesthesia, Palavras-chave: Síndrome de Patau, Lábio leporino, Fenda palatina, Anestesia pediátrica

Neuropsychological function in a child with 18p deletion syndrome: a case report.

Science.gov (United States)

Willoughby, Brian L; Favero, Marcus; Mochida, Ganeshwaran H; Braaten, Ellen B

2014-09-01

We report the neuropsychological profile of a 4-year-old boy with the rare 18p deletion syndrome. We used a battery of standardized tests to assess his development in intellect, language, visuomotor integration, academic readiness, socialization, and emotional and behavioral health. The results showed borderline intellectual function except for low average nonverbal reasoning skills. He had stronger receptive than expressive language skills, although both were well below his age group. He had impaired visuomotor integration and pre-academic skills such as letter identification. Emotional and behavioral findings indicated mild aggressiveness, anxiety, low frustration tolerance, and executive function weaknesses, especially at home. Interestingly, he showed social strengths, responding to joint attention and sharing enjoyment with his examiner. With its assessment of development in many domains, this case report is among the first to characterize the neuropsychological and psychiatric function of a young child with 18p deletion syndrome. We discuss the implications of our findings for clinical practice.

Bibliometric analysis of interventions with batterers in Spain

Directory of Open Access Journals (Sweden)

Victoria A. Ferrer Perez

2015-01-01

Full Text Available This study analyse the evolution and characteristics of scientific production on intervention programmes with gender violence perpetrators performed in Spain. The standard bibliometric indicators were applied to 148 studies identified. The greatest productivity is focused between 2008 and 2010 and the largest number of records corresponds to articles in specialised scientific journals. As far as authorship is concerned, an analysis of the number of studies per person indicates that the results obtained are only initially consistent with Lotka’s Law, that is, there are a majority of not very productive authors and a minority who publish frequently, but the data do not fit this law. An analysis of collaboration between authors enables us to determine the existence of one “Social Circle” or “Invisible College”, at least. Most of the records analysed focus on the description of one or several intervention programmes with men who abuse their partner. Results show that there are progressively more evidence based studies on batterers and their treatment.

Effects of addition of different fibers on rheological characteristics of cake batter and quality of cakes.

Science.gov (United States)

Aydogdu, Ayca; Sumnu, Gulum; Sahin, Serpil

2018-02-01

The aim of this study was to investigate the effects of addition of dietary fibers on rheological properties of batter and cake quality. Wheat flour was replaced by 5 and 10% (wt%) oat, pea, apple and lemon fibers. All cake batters showed shear thinning behavior. Incorporation of fibers increased consistency index (k), storage modulus (G') and loss modulus (G″). As quality parameters, specific volume, hardness, weight loss, color and microstructure of cakes were investigated. Cakes containing oat and pea fibers (5%) had similar specific volume and texture with control cakes which contained no fiber. As fiber concentration increased, specific volume decreased but hardness increased. No significant difference was found between weight loss of control cake and cakes with oat, pea and apple fibers. Lemon fiber enriched cakes had the lowest specific volume, weight loss and color difference. When microstructural images were examined, it was seen that control cake had more porous structure than fiber enriched cakes. In addition, lemon and apple fiber containing cakes had less porous crumb structure as compared to oat and pea containing ones. Oat and pea fiber (5%) enriched cakes had similar physical properties (volume, texture and color) with control cakes.

Quality characteristics of battered and fried chicken: comparison of pressure frying and conventional frying

OpenAIRE

Das, Rashmi; Pawar, Deepthi P.; Modi, Vinod Kumar

2011-01-01

The marinated and battered chicken leg meat and breast meat were pressure fried and their physico-chemical qualities were compared to the conventional fried product (open pan deep fat frying). Shrinkage due to frying process was significantly lesser in case of pressure fried leg meat (PLM) and breast meat (PBM) as compared to products prepared by conventional frying leg meat (CLM) and breast meat (CBM). Also, juiciness of pressure fried chicken products was superior (p ≤ 0.05) than fried prod...

Cardiopulmonary Syndrome Overview

Science.gov (United States)

... Data Conducting Clinical Trials Statistical Tools and Data Terminology Resources NCI Data Catalog Cryo-EM NCI's Role ... cava syndrome in a child is a serious medical emergency because the child's windpipe can become blocked. ...

Acceptability of Family Violence: Underlying Ties Between Intimate Partner Violence and Child Abuse.

Science.gov (United States)

Gracia, Enrique; Rodriguez, Christina M; Martín-Fernández, Manuel; Lila, Marisol

2017-05-01

Intimate partner violence (IPV) and child abuse (CA) are two forms of family violence with shared qualities and risk factors, and are forms of violence that tend to overlap. Acceptability of violence in partner relationships is a known risk factor in IPV just as acceptability of parent-child aggression is a risk factor in CA. We hypothesized that these acceptability attitudes may be linked and represent the expression of a general, underlying nonspecific acceptance of violence in close family relationships. The sample involved 164 male IPV offenders participating in a batterer intervention program. Implicit measures, which assess constructs covertly to minimize response distortions, were administered to assess acceptability of partner violence against women and acceptability of parent-child aggression. To determine whether acceptability attitudes regarding both forms of violence were related to a higher order construct tapping general acceptance of family violence, Bayesian confirmatory factor analyses were conducted. Findings supported a hierarchical (bifactor) model with a general factor expressing a nonspecific acceptance of family violence, and two specific factors reflecting acceptability of violence in intimate partner and parent-child relationships, respectively. This hierarchical model supporting a general acceptance of violence in close family relationships can inform future research aiming to better understand the connections between IPV and CA.

Particle size fractionation of high-amylose rice (Goami 2) flour as an oil barrier in a batter-coated fried system

Science.gov (United States)

The particle size effects of high-amylose rice (Goami 2) flour on quality attributes of frying batters were characterized in terms of physicochemical, rheological, and oil-resisting properties. High-amylose rice flours were fractionated into four fractions (70, 198, 256, and 415 µm) of which morpho...

Munchausen by Proxy Syndrome

Science.gov (United States)

... the Child Getting Help for the Parent or Caregiver Print Munchausen by proxy syndrome (MBPS) is a relatively rare form of child abuse that involves the exaggeration or fabrication of illnesses or symptoms by a primary caretaker. Also known as "medical child abuse," MBPS ...

Crouzon syndrome: a social stigma.

Science.gov (United States)

Pandey, Neelisha; Pandey, Ramesh Kumar; Singh, Rajeev Kumar; Shah, Naveen Kumar

2012-10-10

Crouzon syndrome is a rare genetic disorder caused due to genetic mutations. It is characterised by partial hearing loss, dry eyes, strabismus and underdevelopment of the upper jaw with facial deformities and malocclusion. These facial deformities greatly affect the social and emotional development of the affected child. The present case report highlights the social problems faced by a child suffering with Crouzon syndrome.

[Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm].

Science.gov (United States)

De Potter, M-J; Edouard, T; Amadieu, R; Plaisancié, J; Julia, S; Hadeed, K; Hascoët, S; Acar, P; Dulac, Y

2016-05-01

Loeys-Dietz syndrome is a rare form of connective tissue disorder, whose clinical features can resemble those of Marfan syndrome, but with a more unpolished appearance. Recently brought out, this pathology remains little known; however, its consequences may be dramatic. We report on the case of a 4-year-old girl followed for a congenital hip dislocation, in which a systematic exam found increased cutaneous elasticity and a bifid uvula, suggesting a connective tissue disorder. Symptoms were unpolished, as the child's height was normal, without any positive cardiac, rheumatological, or ophthalmological family history. Cardiovascular tests found a thoracic aortic aneurysm at the Valsalva sinus (26mm, Z-score=+4.24). A genetic investigation found a TGFβR2 gene mutation, leading to the diagnosis of Loeys-Dietz syndrome type 2. Skeletal damage associated with bifid uvula and/or hypertelorism and an aneurysm of the ascending aorta should guide the genetic investigation to the search for TGF-β vasculopathy such as Loeys-Dietz syndrome. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Getting Hit by Pitch in Professional Baseball: Analysis of Injury Patterns, Risk Factors, Concussions, and Days Missed for Batters.

Science.gov (United States)

Camp, Christopher L; Wang, Dean; Sinatro, Alec S; D'Angelo, John; Coleman, Struan H; Dines, Joshua S; Fealy, Stephen; Conte, Stan

2018-05-01

Although batters are frequently hit by pitch (HBP) in baseball, the effect of HBP injuries remains undefined in the literature. To determine the effect of HBP injuries in terms of time out of play, injury patterns resulting in the greatest time out of play, and the value of protective gear such as helmets and elbow pads. Descriptive laboratory study. Based on the Major League Baseball (MLB) Health and Injury Tracking System, all injuries to batters HBP during the 2011-2015 MLB and Minor League Baseball (MiLB) seasons were identified and analyzed. Video analysis was performed on all HBP events from the 2015 MLB season. Multivariate stepwise regression analysis was utilized to determine the predictive capacity of multiple variables (velocity, pitch type, location, etc) on injury status and severity. A total of 2920 HBP injuries resulted in 24,624 days missed (DM) over the 5 seasons. MLB HBP injuries occurred at a rate of 1 per 2554 plate appearances (1 per 9780 pitches thrown). Mean DM per injury were 8.4 (11.7 for MLB vs 8.0 for MiLB, P hit in the head/face (odds ratio, 28.7) or distal upper extremity (odds ratio, 6.4) were more likely to be injured than players HBP in other locations. Players with an unprotected elbow missed 1.7 more days (95% CI, -4.1 to 7.6) than those with an elbow protector ( P = .554) when injured after being HBP. Although HBP injuries occur infrequently in the course of normal play, they collectively represent a significant source of time out of play. The most common body regions injured include the hands/fingers and head/face, and batters hit in these locations are significantly more likely to be injured. After contusions, concussions were the most common injury diagnosis.

South African common-law position

African Journals Online (AJOL)

shaun

law has allowed killing in defence of life, but also has allowed killing in .... have suggested that victims of battered woman syndrome ought to be allowed to ..... There must be a certain balance between the attack and the defence.84 As Snyman ..... Work with battered women outside the medical context suggests that physical.

Congenital defects of C1 arches and odontoid process in a child with Down′s syndrome: A case presentation

Directory of Open Access Journals (Sweden)

Catherine Hatzantonis

2016-01-01

Full Text Available We present the case of a 2-year-old child with Down′s syndrome who presented to our unit with torticollis. Imaging studies revealed the rare occurrence of anterior and posterior C1 arch defects, absent odontoid process, and atlantoaxial subluxation. We managed her conservatively for 3 years without neurological deficits or worsening of atlantoaxial subluxation. We discuss the rare occurrences of anterior and posterior arch defects of the atlas, the radiological presentations of axis defects in patients, and the occurrence of atlantoaxial instability in patients with Down′s syndrome. Management options with consideration to surgery in asymptomatic and symptomatic patients are also discussed.

Wolcott-Rallison Syndrome

Directory of Open Access Journals (Sweden)

A Juneja

2012-01-01

Full Text Available Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome is a rare autosomal recessive disorder that manifests itself in early infancy with symptoms of diabetes mellitus. Short stature and walking difficulties become evident in the 2 nd year of life when the child starts to walk. These skeletal changes are progressive with age. There is usually a short trunk, excessive lordosis, a short and broad chest, and genu valgum. This report presents a case of Wolcott-Rallison syndrome in a 10 year old child.

Adherence to treatment in male batterers against their intimate partners in a community setting: State of the art and future challenges

Directory of Open Access Journals (Sweden)

Enrique Echeburúa

2013-08-01

Full Text Available This paper addresses the difficulties inherent in providing mental health treatment for men who commit acts of violence against their intimate partners. The effectiveness of available treatment programs for men who batter, both in the international literature and in Spain, is analyzed. In all studies the dropout rates in the treatment of men involved in intimate partner violence are very high. Different studies have pointed to multiple psychological and social causes to explain the poor adherence to treatment in men who batter. The main predictors of poor adherence to therapy are described. Therefore, motivational enhancement strategies are being developed to strengthen subjects' commitment to change by helping them to identify their goals for recovery and to determine ways to reach these goals. Finally, some suggestions are discussed about how to successfully deal with these issues. It is necessary to implement strategies to improve motivation for treatment. Implications of this study for clinical practice, policy decisions, and future research in this field are commented upon.

Battered Wives or Dependent Mothers? Negotiating Familial Ideology in Law.

Science.gov (United States)

Kodikara, Chulani

2018-06-01

More than a decade after its passing, Sri Lanka's Prevention of Domestic Violence Act (PDVA) remains a remedy of last resort for female survivors of intimate partner violence, as there is little support to take on a rights-defined identity as a battered woman both inside and outside the courtroom. However, large numbers of women are accessing the Maintenance Act of 1999 to exit violent relationships without the censure and stigma that attaches to the PDVA. The key to understanding this phenomenon is to consider how familial ideology works in unpredictable ways within the Sri Lankan judicial system. This article examines the reach and different impacts of familial ideology within the judiciary and argues that female survivors of violence navigate this ideology to their own advantage. However, the preference to address violence through the Maintenance Act renders such violence invisible. The price for judicial redress is silence.

Dyssynchrony and perinatal psychopathology impact of child disease on parents-child interactions, the paradigm of Prader Willi syndrom.

Science.gov (United States)

Viaux-Savelon, Sylvie; Rosenblum, Ouriel; Guedeney, Antoine; Diene, Gwenaelle; Çabal-Berthoumieu, Sophie; Fichaux-Bourin, Pascale; Molinas, Catherine; Faye, Sandy; Valette, Marion; Bascoul, Céline; Cohen, David; Tauber, Maïthé

2016-11-01

Infant-mother interaction is a set of bidirectional processes, where the baby is not only affected by the influences of his caregiver, but is also at the origin of considerable modifications. The recent discovery of biological correlates of synchrony during interaction validated its crucial value during child development. Here, we focus on the paradigmatic case of Prader-Willi Syndrome (PWS) where early endocrinal dysfunction is associated with severe hypotonia and early feeding disorder. As a consequence, parent-infant interaction is impaired. In a recent study (Tauber et al., 2017), OXT intranasal infusion was able to partially reverse the feeding phenotype, infant's behavior and brain connectivity. This article details the interaction profile found during feeding in these dyads and their improvement after OXT treatment. Eighteen infants (≤6months) with PWS were recruited and hospitalized 9days in a French reference center for PWS where they were treated with a short course of intranasal OXT. Social withdrawal behavior and mother-infant interaction were assessed on videos of feeding before and after treatment using the Alarm Distress Baby (ADBB) Scale and the Coding Interactive Behavior (CIB) Scale. Raters were blind to treatment status. At baseline, infants with PWS showed hypotonia, low expressiveness of affects, fatigability and poor involvement in the relationship with severe withdrawal. Parents tended to adapt to their child difficulties, but the interaction was perturbed, tense, restricted and frequently intrusive with a forcing component during the feeding situation. After OXT treatment, infants were more alert, less fatigable, more expressive, and had less social withdrawal. They initiated mutual activities and were more engaged in relationships through gaze, behavior, and vocalizations. They had a better global tonicity with better handling. These modifications helped the parents to be more sensitive and the synchrony of the dyad was in a positive

Fever and Taking Your Child's Temperature

Science.gov (United States)

... body's way of fighting infections. But when your child wakes in the middle of the night flushed, hot, and sweaty, it's ... by a doctor, never give aspirin to a child due to its association with Reye syndrome, a rare but potentially fatal disease.) If you ...

Is "treat your child normally" helpful advice for parents of survivors of treatment of hypoplastic left heart syndrome?

Science.gov (United States)

Rempel, Gwen R; Harrison, Margaret J; Williamson, Deanna L

2009-04-01

Developing technology affords children with complex congenitally malformed hearts a chance for survival. Parents gratefully pursue life-saving options on behalf of their children, despite the risks to the life of their child, and uncertainty about outcomes. Little is known about how mothers and fathers experience parenting a child whose new state as a survivor may include less than optimal developmental sequels. Our study involved multiple interactive interviews with 9 mothers and 7 fathers of infants and preschool children with hypoplastic left heart syndrome who had survived the Norwood surgical approach. Qualitative methodology included grounded theory methods of simultaneous collection and analysis of data, and we used open and selective coding of transcribed interviews. Parents used normalization in the context of uncertainty regarding the ongoing survival of their child. Parents described their underweight children as being on their own growth curve, and viewed their developmental progress, however delayed, as reason for celebration, as they had been prepared for their child to die. There is growing evidence that children with congenitally malformed hearts who require surgical intervention during the first year of life may experience developmental delay. The use of normalization by their parents may be effective in decreasing their worry regarding the uncertain future faced by their child, but may negatively affect the developmental progress of the child if they do not seek resources to assist development. Advice from paediatric specialists for parents to view their children as normal needs to be balanced with assistance for parents to access services to support optimal growth and development of their child.

A family of a Child with Down Syndrome in Terms of Interpersonal Relationships Research

Directory of Open Access Journals (Sweden)

Brazgun T.

2018-04-01

Full Text Available The article deals with the study of interpersonal relationships of families with disabled children. The birth of a baby with a disability can be a traumatic event for parents and can have profound effects on the entire family. In this regard, it is especially important to provide the specialist with the opportunity to identify the characteristics of intra-family relations in order to create an effective program for correcting disharmonious patterns of behavior in the family. The authors present the program of studies of the interpersonal relationships and the case of relationships research of the family who is parenting a child with Down syndrome.

Cholesterol and Your Child

Science.gov (United States)

... for: Parents Kids Teens Long-Term Complications of Diabetes Metabolic Syndrome Blood Test: Lipid Panel Figuring Out Food Labels Your Child's Weight Healthy Eating Hypertension (High Blood Pressure) Heart ...

Divorce in families of children with Down Syndrome or Rett Syndrome.

Science.gov (United States)

Lederman, Vivian Renne Gerber; Alves, Bianca dos Santos; Negrão, Juliana; Maria, Juliana Negrão; Schwartzman, José Salomão; D'Antino, Maria Eloisa Famá; Brunoni, Decio

2015-05-01

This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.

Roberts-SC syndrome, a rare syndrome and cleft palate repair

Directory of Open Access Journals (Sweden)

Murthy Jyotsna

2008-01-01

Full Text Available Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.

Assessment of the Influence of Background Noise on Escape-Maintained Problem Behavior and Pain Behavior in a Child with Williams Syndrome.

Science.gov (United States)

O'Reilly, Mark F.; Lacey, Claire; Lancioni, Giulio E.

2000-01-01

A study examined the influence of background noise on levels of problem behavior and pain behavior under functional analysis conditions for a 5-year-old with Williams syndrome and hyperacusis. When the child was fitted with earplugs, there were substantial decreases in both problem and pain behavior under the background noise condition. (Contains…

Serial auditory-evoked potentials in the diagnosis and monitoring of a child with Landau-Kleffner syndrome.

Science.gov (United States)

Plyler, Erin; Harkrider, Ashley W

2013-01-01

A boy, aged 2 1/2 yr, experienced sudden deterioration of speech and language abilities. He saw multiple medical professionals across 2 yr. By almost 5 yr, his vocabulary diminished from 50 words to 4, and he was referred to our speech and hearing center. The purpose of this study was to heighten awareness of Landau-Kleffner syndrome (LKS) and emphasize the importance of an objective test battery that includes serial auditory-evoked potentials (AEPs) to audiologists who often are on the front lines of diagnosis and treatment delivery when faced with a child experiencing unexplained loss of the use of speech and language. Clinical report. Interview revealed a family history of seizure disorder. Normal social behaviors were observed. Acoustic reflexes and otoacoustic emissions were consistent with normal peripheral auditory function. The child could not complete behavioral audiometric testing or auditory processing tests, so serial AEPs were used to examine central nervous system function. Normal auditory brainstem responses, a replicable Na and absent Pa of the middle latency responses, and abnormal slow cortical potentials suggested dysfunction of auditory processing at the cortical level. The child was referred to a neurologist, who confirmed LKS. At age 7 1/2 yr, after 2 1/2 yr of antiepileptic medications, electroencephalographic (EEG) and audiometric measures normalized. Presently, the child communicates manually with limited use of oral information. Audiologists often are one of the first professionals to assess children with loss of speech and language of unknown origin. Objective, noninvasive, serial AEPs are a simple and valuable addition to the central audiometric test battery when evaluating a child with speech and language regression. The inclusion of these tests will markedly increase the chance for early and accurate referral, diagnosis, and monitoring of a child with LKS which is imperative for a positive prognosis. American Academy of Audiology.

Cardiofaciocutaneous syndrome: A rare entity

Directory of Open Access Journals (Sweden)

S Pavithra

2012-01-01

Full Text Available The cardiofaciocutaneous (CFC syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome.

A case report of nephrogenic diabetes insipidus with idiopathic Fanconi syndrome in a child who presented with vitamin D resistant rickets.

Science.gov (United States)

Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

2014-05-01

Fanconi syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells, occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium and magnesium. Diabetes insipidus is a disease of collecting tubules and children mainly present with dehydration and hypernatremia. We are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us with vitamin D resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus (NDI) associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to to severe hypokalemia induced tubular dysfunction.

Structuring and calorie control of bakery products by templating batter with ultra melt-resistant food-grade hydrogel beads.

Science.gov (United States)

Thompson, Benjamin R; Horozov, Tommy S; Stoyanov, Simeon D; Paunov, Vesselin N

2017-08-01

We report the use of a temperature insensitive, food-grade hydrogel to reduce the caloric density of pancakes that were prepared at temperatures much higher than the boiling point of water. This cheap, facile method utilises a mixed agar-methylcellulose hydrogel, which was blended to produce a slurry of hydrogel microbeads. The pancake batter was mixed with a controlled volume percentage of slurry of hydrogel beads and cooked. From bomb calorimetry experiments, the composites were found to have a reduced caloric density that reflects the volume percentage of hydrogel beads mixed with the batter. Using this procedure, we were able to reduce the caloric density of pancakes by up to 23 ± 3% when the volume percentage of hydrogel beads initially used was 25%. The method is not limited to pancakes and could potentially be applied to various other food products. The structure and morphology of the freeze-dried pancakes and pancake-hydrogel composites were investigated and pores of a similar size to the hydrogel beads were found, confirming that the gel beads maintained their structure during the cooking process. There is scope for further development of this method by the encapsulation of nutritionally beneficial or flavour enhancing ingredients within the hydrogel beads.

A CLINICAL CASE: DIAGNOSTICS OF SHERESHEVSKY TERNER SYNDROME WITH MULTIPLE CONGENITAL ANOMALIES IN MAIN ARTERIES OF A 4 YEAR OLD CHILD, SUFFERING FROM ARTERIAL HYPERTENSION

Directory of Open Access Journals (Sweden)

A.N. Tsygin

2007-01-01

Full Text Available The article provides a substantiation for the differential diagnostics of the symptomatic arterial hypertension of a 4 year old child, suffering from the arterial hypertension of the presumably renoparenchymal origin. In the course of the clinical examination, the researchers found out coarctation of aorta and hypoplasia of the right renal artery as a part of Shereshevsky-Terner syndrome.Key words: arterial hypertension, Shereshevsky-Terner syndrome, coarctation of aorta, renovascular hypertension.

Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.

Science.gov (United States)

Uike, Kiyoshi; Matsushita, Yuki; Sakai, Yasunari; Togao, Osamu; Nagao, Michinobu; Ishizaki, Yoshito; Nagata, Hazumu; Yamamura, Kenichiro; Torisu, Hiroyuki; Hara, Toshiro

2013-11-12

Loeys-Dietz syndrome, also known as Marfan syndrome type II, is a rare connective tissue disorder caused by dominant mutations in transforming growth factor-beta receptors (TGFBR1 and 2). We report a 7-year-old Japanese boy with Loeys-Dietz syndrome who carried a novel, de novo missense mutation in TGFBR2 (c.1142g > c, R381P). He showed dysmorphic faces and skeletal malformations that were typical in previous cases with Loeys-Dietz syndrome. The cardiac studies disclosed the presence of markedly dilated aortic root and patent ductus aorteriosus. The cranial magnetic resonance imaging (MRI) and angiography (MRA) detected the tortuous appearances of the bilateral middle cerebral and carotid arteries. This study depicts the systemic vascular phenotypes of a child with Loeys-Dietz syndrome that were caused by a novel heterozygous mutation of TGFR2. A large cohort with serial imaging studies for vascular phenotypes will be useful for delineating the genotype-phenotype correlations of Loeys-Dietz syndrome.

"A fool to keep staying": battered women labeling themselves stupid as an expression of gendered shame.

Science.gov (United States)

Enander, Viveka

2010-01-01

In this qualitative study with women who have left abusive heterosexual relationships, the informants labeling themselves stupid is investigated. Several different meanings ascribed to stupidity were found, with feeling stupid for allowing oneself to be mistreated and for staying in the abusive relationship as main themes. Four frames for interpreting the findings are presented: abusive relationship dynamics, gendered shame, the gender-equality-oriented Nordic context, and leaving processes. It is proposed that feeling- and labeling oneself-stupid is an expression of gendered shame or, more explicitly, of battered shame.

Central Anticholinergic Syndrome due to Hypoxia-Induced Bradycardia in a Child with Difficult Intubation Undergoing Complete Dental Restoration: A Case Report.

Directory of Open Access Journals (Sweden)

Mohamad Gharavifard

2014-10-01

Full Text Available Central anticholinergic syndrome (CAS following general anesthesia (GA is a well known syndrome in children and adults. Many cases of CAS have been previously reported in the literature. However, there are only two reports of post resuscitation CAS after administration of small doses of atropine. Hereby, we report a case of CAS in a child undergoing complete dental restoration under GA after receiving a small dose of atropine to reverse hypoxia induced bradycardia. Intraoperative events such as hypoxia or cardiac arrest may play a role as triggers for CAS. However, we cannot establish a causal relationship between the occurrence of CAS and such critical events.

Central Anticholinergic Syndrome due to Hypoxia-Induced Bradycardia in a Child with Difficult Intubation Undergoing Complete Dental Restoration: A Case Report.

Science.gov (United States)

Gharavifard, Mohamad; Razavi, Majid; Ghandehari Motlagh, Mehdi; Ziyaeifard, Mohsen

2014-09-01

Central anticholinergic syndrome (CAS) following general anesthesia (GA) is a well known syndrome in children and adults. Many cases of CAS have been previously reported in the literature. However, there are only two reports of post resuscitation CAS after administration of small doses of atropine. Hereby, we report a case of CAS in a child undergoing complete dental restoration under GA after receiving a small dose of atropine to reverse hypoxia induced bradycardia. Intraoperative events such as hypoxia or cardiac arrest may play a role as triggers for CAS. However, we cannot establish a causal relationship between the occurrence of CAS and such critical events.

Genetics Home Reference: Noonan syndrome

Science.gov (United States)

... growth spurt that results in shortened stature. Most males with Noonan syndrome have undescended testes (cryptorchidism), which may contribute to infertility (inability to father a child) later in life. Females with Noonan syndrome can experience delayed puberty but ...

The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

Science.gov (United States)

Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

2015-06-01

The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

Parent-child relationship disorders. Part II. The vulnerable child syndrome and its relation to parental overprotection.

Science.gov (United States)

Thomasgard, M; Shonkoff, J P; Metz, W P; Edelbrock, C

1995-08-01

Parents who are excessively concerned about their child's health are often characterized as being overprotective. We hypothesized that parental overprotection is independent of parental perception of child vulnerability to illness or injury despite their presumed interchangeability. A community-based sample of 892 parents (92% white, 84% married, 88% middle-upper socioeconomic status, 90% mothers) completed a three-part protocol (clinical background data, the Child Vulnerability Scale, and the Parent Protection Scale). Correlates of high parental perception of child vulnerability included a medical condition in the child, a history of life-threatening illness or injury, and the child being seen for a sick visit. Correlates of high parental overprotection included younger age of child and parent. Only 20% of those parents who considered their child vulnerable were also considered overprotective.

Brachman de lange syndrome

Directory of Open Access Journals (Sweden)

Leena Verma

2010-01-01

Full Text Available Brachman de Lange syndrome or Cornelia de Lange syndrome (CdLS is a genetic disorder which can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child. It is characterized by skeletal, craniofacial deformities, gastrointestinal and cardiac malformations. This syndrome is of rare occurrence and affects between 1/10,000 and 1/60,000 neonates. Diagnosis is based on the characteristic phenotype, in particular, a striking facial appearance, prenatal and postnatal growth retardation, various skeletal abnormalities, hypertrichosis, and developmental delay. Here, we present the case of a 13-year-old patient, with micrognathia, delayed eruption, multiple carious teeth, missing teeth and periodontal problems together, which had never been reported before. The father was also found to have the same missing teeth as the girl child.

The neurosurgeon as baseball fan and inventor: Walter Dandy and the batter's helmet.

Science.gov (United States)

Brewster, Ryan; Bi, Wenya Linda; Smith, Timothy R; Gormley, William B; Dunn, Ian F; Laws, Edward R

2015-07-01

Baseball maintains one of the highest impact injury rates in all athletics. A principal causative factor is the "beanball," referring to a pitch thrown directly at a batter's head. Frequent morbidities elicited demand for the development of protective gear development in the 20th century. In this setting, Dr. Walter Dandy was commissioned to design a "protective cap" in 1941. His invention became widely adopted by professional baseball and inspired subsequent generations of batting helmets. As a baseball aficionado since his youth, Walter Dandy identified a natural partnership between baseball and medical practice for the reduction of beaning-related brain injuries. This history further supports the unique position of neurosurgeons to leverage clinical insights, inform innovation, and expand service to society.

Kawasaki syndrome: a case report.

Science.gov (United States)

Blakeley, S L; Cohen, P R

1993-08-01

A four-year-old black boy with Kawasaki syndrome is reported. The child was treated with intravenous gamma globulin and aspirin. He had no disease-associated adverse sequelae. The clinical findings, diagnostic criteria, and treatment of Kawasaki syndrome are reviewed.

Moebius syndrome with macular hyperpigmentation, skeletal ...

African Journals Online (AJOL)

Rabah M. Shawky

2014-11-08

Nov 8, 2014 ... Moebius syndrome is a congenital, nonprogressive complete or partial facial nerve .... Moebius syndrome with its associated anomalies in an Egyptian child. 279 ... or absence of middle cerebellar peduncles, depression of the.

Cerebral gigantism with West syndrome.

Science.gov (United States)

Ray, Munni; Malhi, P; Bhalla, A K; Singhi, P D

2003-07-01

A case of cerebral gigantism (Sotos syndrome) with West syndrome in a one-year-old male child is reported. The case had a large stature, typical facies and neurodevelopmental delay along with infantile spasms, which were refractory to treatment with valproate and clonazepam.

Personality Traits and their Impacts on the Mental Health of Battered Women

Directory of Open Access Journals (Sweden)

leila amini

2015-04-01

Full Text Available Background & aim: Domestic violence is an individual and social damage, which is affected by personality traits and can cause a crisis for the mental health of individuals; thus, the present study aimed to investigating personality traits and its impact on mental health of battered women in Tehran, 2013. Methods:In this cross-sectional study, 196 married women who referred to Tehran Legal Medicine Center in 2013 were selected based on simple sampling method, and then were studied based on General Health Questionnaire (GHQ-28 and the NEO Five Factor Inventory (NEO-FFI. In this cross-sectional study, the data were analyzed with the Pearson Correlation Test using the SPSS-16. Results: The present study revealed that statistically mental health has a significant and positive correlation with neuroticism personality trait (r=0.318, P

A case of oral-facial-digital syndrome with overlapping manifestations of type V and type VI: a possible new OFD syndrome

International Nuclear Information System (INIS)

Chung Wongyiu; Chung Laupo

1999-01-01

We report a child with clinical and radiological manifestations characteristic of both V'aradi syndrome (oral-facial-digital syndrome type VI) and Thurston syndrome (oral-facial-digital syndrome type V). The findings have not been reported previously, and we believe that it represents a new variant. (orig.)

"You don't know until you get there": The positive and negative "lived" experience of parenting an adult child with 22q11.2 deletion syndrome.

Science.gov (United States)

Goodwin, Jane; McCormack, Lynne; Campbell, Linda E

2017-01-01

22q11.2 deletion syndrome (22q11DS), a complex genetic syndrome associated with more than 180 features, presents complex challenges for parents including gaining a diagnosis. This phenomenological study sought the "lived" interpretations of parents supporting an adult child with 22q11DS, a poorly researched area. Interpretative phenomenological analysis informed a detailed and open exploration of parenting a child through to adult life with 22q11DS. Using in-depth semistructured interviews, 8 parents (2 male, 6 female) of adult children with 22q11DS were individually interviewed; providing the data set for transcription and thematic analysis. Losing "I" Finding "self," overarched 6 subordinate themes that emerged from participants' articulated descriptions of psychological distress and psychological growth. Distress in parenting a child with 22q11DS was experienced through stigma, loss, grief, and guilt. Progressively, stigma undermined independence, friendships, and instinctual judgement. Ill-informed hierarchical structures experienced as layers of obstruction and lack of awareness of the syndrome triggered angry advocacy for their child. Diagnosis brought opposing relief and grief. In time, they came to value their unique "accomplishments," collected on their journey with 22q11DS, and in turn, consciously valued authentic "self" expressed through empathy, humility, gratitude, and pride. Parental distress through societal, educational, and health care invalidation persisted for decades for all participants. Conversely, distress facilitated psychological growth for redefining "self" and role as parents over time. Building on this phenomenological cameo, future research can educate against the plight of 22q11DS families. It can enlighten health care professionals in buffering against associated stigma, blame, and self-doubt, and in fostering psychological well-being. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Waffle production: influence of batter ingredients on sticking of fresh egg waffles at baking plates-Part I: effect of starch and sugar components.

Science.gov (United States)

Huber, Regina; Schoenlechner, Regine

2017-05-01

Fresh egg waffles are a sweet convenience product typically baked from eggs, water, sugar, flour, fat, leavening agents, emulsifiers, preservatives, and flavors. In industrial production, waffles are baked continuously in high amounts of up to 200 kg raw material per hour. Therefore, it is important that the waffles do not stick onto the baking plates, which can cause significant product loss and increased costs due to interruption of the baking process, required cleaning procedures, and restarting of the energy-consuming start-up phase. Sticking of waffles is greatly influenced not only by baking plate material, release agent, baking temperature, and time, but also by the batter ingredients. In this study, effects of different starches and sugar components were investigated. Within the selected starches, potato starch demonstrated the highest effects on increasing waffle stability and releasing properties compared to wheat and lupine flour (less than 7% sticking waffles). Rice flour performed worst, with almost 50% of sticking waffles. Most of these waffles were broken during take-off, due to their crumbly texture. Within the sugar components, glycerine was better suitable than sorbitol and crystal sugar was superior compared to powdered sugar. They required less take-off force. It could be demonstrated that waffles with increased stability and texture were those that showed the least number of sticking waffles, thus the main aim of batter ingredients was to improve waffle quality. Waffle quality was influenced by batter parameters, significant correlations could be found, for example, a positive correlation between pH- and L-value, negative correlations between pH- and a-value, or density and aw-value. This resulted in significant correlations with take-off-force, which was correlated with L*- and b*-value (negative) and positive to a*-value. Sticking behavior was strongly associated with b*-value (positive) and to a*-value (negative).

Co-amoxiclav-induced Stevens Johnson Syndrome in a child ...

African Journals Online (AJOL)

Stevens-Johnson Syndrome is an uncommon life threatening disease generally induced by drugs. Antibiotics, mainly sulphonamides, are the most involved drugs in Stevens-Johnson Syndrome in children. Co-amoxiclav is a well tolerated antibiotic. It has never been reported to cause, lonely this syndrome in children.

Insulin Resistance, Metabolic Syndrome, and Polycystic Ovary Syndrome in Obese Youth.

Science.gov (United States)

Platt, Adrienne M

2015-07-01

School nurses are well aware of the childhood obesity epidemic in the United States, as one in three youth are overweight or obese. Co-morbidities found in overweight or obese adults were not commonly found in youth three decades ago but are now increasingly "normal" as the obesity epidemic continues to evolve. This article is the second of six related articles discussing the co-morbidities of childhood obesity and discusses the complex association between obesity and insulin resistance, metabolic syndrome, and polycystic ovary syndrome. Insulin resistance increases up to 50% during puberty, which may help to explain why youth are more likely to develop co-morbidities as teens. Treatment of these disorders is focused on changing lifestyle habits, as a child cannot change his or her pubertal progression, ethnicity, or family history. School nurses and other personnel can assist youth with insulin resistance, metabolic syndrome, and polycystic ovary syndrome by supporting their efforts to make changes, reinforcing that insulin resistance is not necessarily type 2 diabetes even if the child is taking medication, and intervening with negative peer pressure. © 2015 The Author(s).

Histiocytoid Sweet Syndrome in a Child without Underlying Systemic Disease.

Science.gov (United States)

Yeom, Seung Dohn; Ko, Hye Soo; Moon, Jong Hyuk; Kang, Min Ji; Byun, Ji Won; Choi, Gwang Seong; Shin, Jeonghyun

2017-10-01

Sweet syndrome (acute, febrile, neutrophilic dermatosis) is characterized by the acute onset of an eruption of painful nodules or erythematous or violaceous plaques on the limbs, face and neck. These symptoms are accompanied by fever. The diagnostic features include histopathological findings of dermal neutrophilic infiltration without leukocytoclastic vasculitis or peripheral blood leukocytosis. Sweet syndrome is associated with infection, malignancies, autoimmune disease, pregnancy, and drugs. Patients with Sweet syndrome demonstrate a complete and rapid response to systemic steroid administration. Recently, a distinct variant of Sweet syndrome was reported, termed "histiocytoid Sweet syndrome", in which the infiltration of myeloperoxidase-positive histiocytoid mononuclear cells are observed (in contrast to the infiltration of neutrophils). The other clinical features are similar to those of classic Sweet syndrome. Pediatric Sweet syndrome is uncommon, and the histiocytoid type is even rarer. To date, four cases of histiocytoid Sweet syndrome have been reported in children. Herein, we describe a case of histiocytoid Sweet syndrome in an otherwise healthy 10-year-old boy with no underlying systemic disease in whom non-steroidal, anti-inflammatory drug treatment was successful.

Berry syndrome in association with familial limb malformation.

LENUS (Irish Health Repository)

Shahdadpuri, R

2012-02-01

We describe a newborn boy diagnosed with Berry syndrome consisting of a distal aortopulmonary septal defect, aortic origin of the right pulmonary artery, and interruption of the aorta. The child was noted to have reduplication of the right thumb. The child\\'s mother had a claw malformation of her left hand but a normal cardiovascular status. Genetic analysis for TBX5 and SALL4 mutations were negative in both the patient and his mother. This case describes the first ever report of Berry syndrome in an infant with reduplication of the right thumb and familial limb malformation.

Preschool Psychopathology Reported by Parents in 23 Societies: Testing the Seven-Syndrome Model of the Child Behavior Checklist for Ages 1.5–5

Science.gov (United States)

Ivanova, Masha Y.; Achenbach, Thomas M.; Rescorla, Leslie A.; Harder, Valerie S.; Ang, Rebecca P.; Bilenberg, Niels; Bjarnadottir, Gudrun; Capron, Christiane; De Pauw, Sarah S.W.; Dias, Pedro; Dobrean, Anca; Doepfner, Manfred; Duyme, Michele; Eapen, Valsamma; Erol, Nese; Esmaeili, Elaheh Mohammad; Ezpeleta, Lourdes; Frigerio, Alessandra; Gonçalves, Miguel M.; Gudmundsson, Halldor S.; Jeng, Suh-Fang; Jetishi, Pranvera; Jusiene, Roma; Kim, Young-Ah; Kristensen, Solvejg; Lecannelier, Felipe; Leung, Patrick W.L.; Liu, Jianghong; Montirosso, Rosario; Oh, Kyung Ja; Plueck, Julia; Pomalima, Rolando; Shahini, Mimoza; Silva, Jaime R.; Simsek, Zynep; Sourander, Andre; Valverde, Jose; Van Leeuwen, Karla G.; Woo, Bernardine S.C.; Wu, Yen-Tzu; Zubrick, Stephen R.; Verhulst, Frank C.

2014-01-01

Objective To test the fit of a seven-syndrome model to ratings of preschoolers' problems by parents in very diverse societies. Method Parents of 19,106 children 18 to 71 months of age from 23 societies in Asia, Australasia, Europe, the Middle East, and South America completed the Child Behavior Checklist for Ages 1.5–5 (CBCL/1.5–5). Confirmatory factor analyses were used to test the seven-syndrome model separately for each society. Results The primary model fit index, the root mean square error of approximation (RMSEA), indicated acceptable to good fit for each society. Although a six-syndrome model combining the Emotionally Reactive and Anxious/Depressed syndromes also fit the data for nine societies, it fit less well than the seven-syndrome model for seven of the nine societies. Other fit indices yielded less consistent results than the RMSEA. Conclusions The seven-syndrome model provides one way to capture patterns of children's problems that are manifested in ratings by parents from many societies. Clinicians working with preschoolers from these societies can thus assess and describe parents' ratings of behavioral, emotional, and social problems in terms of the seven syndromes. The results illustrate possibilities for culture–general taxonomic constructs of preschool psychopathology. Problems not captured by the CBCL/1.5–5 may form additional syndromes, and other syndrome models may also fit the data. PMID:21093771

Associations of Child and Adolescent Mastery Motivation and Self-Regulation With Adult Outcomes: A Longitudinal Study of Individuals With Down Syndrome.

Science.gov (United States)

Gilmore, Linda; Cuskelly, Monica

2017-05-01

This 20-year prospective longitudinal study focuses on the contribution of mastery motivation and self-regulation to adult outcomes for individuals with Down syndrome. In earlier phases of the research, 25 participants completed measures of cognitive ability, mastery motivation and self-regulation in childhood (4 to 6 years) and adolescence (11 to 15 years). In the adult phase reported here, self-determination and adaptive behavior were assessed in 21 of the original participants at age 23 to 26 years. Mastery motivation and self-regulation made unique contributions to adult outcomes, over and above the effects of cognitive ability. The findings provide powerful evidence about the important role of child and adolescent mastery motivation and self-regulation for the adult lives of individuals with Down syndrome.

Exome Capture and Massively Parallel Sequencing Identifies a Novel HPSE2 Mutation in a Saudi Arabian Child with Ochoa (Urofacial) Syndrome

Science.gov (United States)

Al Badr, Wisam; Al Bader, Suha; Otto, Edgar; Hildebrandt, Friedhelm; Ackley, Todd; Peng, Weiping; Xu, Jishu; Li, Jun; Owens, Kailey M.; Bloom, David; Innis, Jeffrey W.

2011-01-01

We describe a child of Middle Eastern descent by first-cousin mating with idiopathic neurogenic bladder and high grade vesicoureteral reflux at 1 year of age, whose characteristic facial grimace led to the diagnosis of Ochoa (Urofacial) syndrome at age 5 years. We used homozygosity mapping, exome capture and paired end sequencing to identify the disease causing mutation in the proband. We reviewed the literature with respect to the urologic manifestations of Ochoa syndrome. A large region of marker homozygosity was observed at 10q24, consistent with known autosomal recessive inheritance, family consanguinity and previous genetic mapping in other families with Ochoa syndrome. A homozygous mutation was identified in the proband in HPSE2: c.1374_1378delTGTGC, a deletion of 5 nucleotides in exon 10 that is predicted to lead to a frameshift followed by replacement of 132 C-terminal amino acids with 153 novel amino acids (p.Ala458Alafsdel132ins153). This mutation is novel relative to very recently published mutations in HPSE2 in other families. Early intervention and recognition of Ochoa syndrome with control of risk factors and close surveillance will decrease complications and renal failure. PMID:21450525

Molecular characterization of lactobacilli isolated from fermented idli batter

Directory of Open Access Journals (Sweden)

Perumal Jayaprabha Agaliya

2013-12-01

Full Text Available Lactic acid bacteria are non pathogenic organism widely distributed in nature typically involved in a large number of spontaneous food fermentation. The purpose of this study was to characterize the bacteriocinogenic lactobacilli from fermented idli batter which can find application in biopreservation and biomedicine. Eight most promising lactobacilli were chosen from twenty two isolates based on their spectrum of activity against other lactic acid bacteria and pathogens. The eight lactobacilli were characterized based on the various classical phenotypic tests, physiological tests and biochemical tests including various carbohydrate utilization profiles. All isolates were homo fermentative, catalase, and gelatin negative. Molecular characterization was performed by RAPD, 16S rRNA analysis, 16S ARDRA, and Multiplex PCR for species identification. RAPD was carried out using the primer R2 and M13. Five different clusters were obtained based on RAPD indicating strain level variation. 16S rRNA analysis showed 99 to 100% homology towards Lactobacillus plantarum. The restriction digestion pattern was similar for all the isolates with the restriction enzyme AluI. The subspecies were identified by performing Multiplex PCR using species specific primer. Among the five clusters, three clusters were clearly identified as Lactobacillus plantarum subsp. plantarum, Lactobacillus pentosus, and Lactobacillus plantarum subsp. argentoratensis.

Costello syndrome

Directory of Open Access Journals (Sweden)

Madhukara J

2007-01-01

Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

Dandy-Walker Syndrome

Science.gov (United States)

... treatment options. Other research indicates that mothers with diabetes and those with rubella (German measles) during pregnancy are more likely to have a child with Dandy-Walker syndrome. × What research is being ...

Mishandelde vrou-sindroom en strafregtelike aanspreeklikheid / J.L. Matthee

OpenAIRE

Matthee, Jacques Louis

2008-01-01

BATTERED WOMAN SYNDROME AND CRIMINAL LIABILITY. The effect of prolonged abuse on a woman has been labelled as "learned helplessness". The theory of learned helplessness presupposes that a woman who is continuously abused by her partner will eventually accept her abuse as unavoidable and will develop a feeling of helplessness. Therefore the theory of learned helplessness gives an explanation for the psychological helplessness that battered women experience. Later the concept of learne...

Gradenigo's syndrome--surgical management in a child.

Science.gov (United States)

Humayun, Hassan Nabeel; Akhtar, Shabbir; Ahmed, Shakeel

2011-04-01

Otits media is a common problem. Some of its complications that were seen frequently in the preantibiotic era are rare today. We report a case of an 8 year boy who presented with earache, retro-orbital pain and diplopia secondary to a sixth nerve palsy--Gradenigo's syndrome. In this syndrome infection from the middle ear spreads medially to the petrous apex of the temporal bone. Work-up includes CT scan of the temporal bones. Timely management with intravenous antibiotics (+ surgery) is needed to prevent intra-cranial complications.

Parent and self-report health-related quality of life measures in young patients with Tourette syndrome.

Science.gov (United States)

Cavanna, Andrea E; Luoni, Chiara; Selvini, Claudia; Blangiardo, Rosanna; Eddy, Clare M; Silvestri, Paola R; Cali', Paola V; Gagliardi, Emanuela; Balottin, Umberto; Cardona, Francesco; Rizzo, Renata; Termine, Cristiano

2013-10-01

Tourette syndrome is a neurodevelopmental disorder characterized by tics and comorbid behavioral problems. This study compared child- and parent-reported quality of life and everyday functioning. We assessed 75 children with Tourette syndrome, of which 42 (56%) had comorbid conditions (obsessive-compulsive disorder = 25; attention-deficit hyperactivity disorder = 6; both comorbidities = 4). All patients completed psychometric instruments, including the Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (child report) and the Child Tourette's Syndrome Impairment Scale (parent report). Data were compared for patients with pure Tourette syndrome, Tourette syndrome + obsessive-compulsive disorder, Tourette syndrome + attention-deficit hyperactivity disorder, and Tourette syndrome + both comorbidities. There were no group differences in quality of life. However, there were differences for total, school, and home activities impairment scores. Children and parents may not share similar views about the impact of Tourette syndrome on functioning. The measurement of health-related quality of life in Tourette syndrome is more complex in children than adults.

Misdiagnosis of Child Abuse Related to Delay in Diagnosing a Paediatric Brain Tumour

Directory of Open Access Journals (Sweden)

Lynne Wrennall Ph.D.

2008-01-01

Full Text Available Conflicting opinion regarding the relative weight that should be allocated to the investigation of organic causes of child illness, compared to the pursuit of suspicions of child abuse, has generated considerable public debate. The discourse of Munchausen Syndrome by Proxy/Fabricated and Induced Illness is at the centre of contention. In particular, concern has arisen that children's medical needs are being neglected when their conditions are misdiagnosed as child abuse. This paper documents a case study in which the use of Child Protection procedures was linked to the belief that the child's illness had “no organic cause.” The case study is contextualised in a review of literature relevant to the diagnostic process. The deployment of the Child Protection perspective resulted in significant delay in the diagnosis of the child's brain tumour. The child was ultimately found to be suffering from an optic chasm mass lesion involving the hypothalamus and the medial temporal regions, resulting in Diencephalic Syndrome. The evidence in this case is that erring on the side of suspecting Munchausen Syndrome by Proxy/Fabricated and Induced Illness, was not “erring on the side of the child.” Several lessons need to be learned from the case. The importance of ensuring that the Child Protection perspective does not displace adequate assessment of alternative explanations for the child's condition is emphasised, as is the need for good communication in medical relationships. Strategies involving empathy, mediation, negotiation and conflict resolution may provide a more appropriate and therapeutic alternative to the use of Child Protection procedures in cases where the diagnosis is contentious. The need to re-write relevant policy, protocols and guidance is imperative.

Preschool Psychopathology Reported by Parents in 23 Societies: Testing the Seven-Syndrome Model of the Child Behavior Checklist for Ages 1.5-5

Science.gov (United States)

Ivanova, Masha Y.; Achenbach, Thomas M.; Rescorla, Leslie A.; Harder, Valerie S.; Ang, Rebecca P.; Bilenberg, Niels; Bjarnadottir, Gudrun; Capron, Christiane; De Pauw, Sarah S. W.; Dias, Pedro; Dobrean, Anca; Doepfner, Manfred; Duyme, Michele; Eapen, Valsamma; Erol, Nese; Esmaeili, Elaheh Mohammad; Ezpeleta, Lourdes; Frigerio, Alessandra; Goncalves, Miguel M.; Gudmundsson, Halldor S.; Jeng, Suh-Fang; Jetishi, Pranvera; Jusiene, Roma; Kim, Young-Ah; Kristensen, Solvejg; Lecannelier, Felipe; Leung, Patrick W. L.; Liu, Jianghong; Montirosso, Rosario; Oh, Kyung Ja; Plueck, Julia; Pomalima, Rolando; Shahini, Mimoza; Silva, Jaime R.; Simsek, Zynep; Sourander, Andre; Valverde, Jose; Van Leeuwen, Karla G.; Woo, Bernardine S. C.; Wu, Yen-Tzu; Zubrick, Stephen R.; Verhulst, Frank C.

2010-01-01

Objective: To test the fit of a seven-syndrome model to ratings of preschoolers' problems by parents in very diverse societies. Method: Parents of 19,106 children 18 to 71 months of age from 23 societies in Asia, Australasia, Europe, the Middle East, and South America completed the Child Behavior Checklist for Ages 1.5-5 (CBCL/1.5-5). Confirmatory…

Case Report - Neonatal progeroid syndrome (Wiedemann ...

African Journals Online (AJOL)

Case Report - Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin ... pads in the suprabuttock areas, triangular face, pseudohydrocephalous, sparse scalp hair and eyebrows, prominent scalp veins, greatly widened anterior fontanels, ...

Oral Allergy Syndrome in a Child Provoked by Royal Jelly

Directory of Open Access Journals (Sweden)

Fantini Paola

2014-01-01

Full Text Available Royal jelly has been demonstrated to have several physiological activities. However, in the literature, different reactions induced by royal jelly are reported. We describe a case of seven-year-old child that was referred to our observation for two episodes of oral allergy syndrome (OAS that appeared ten minutes after ingestion of royal jelly. Skin prick test with standard panel of inhalant and food allergens, a prick-to-prick test using the royal jelly’s extract responsible for patient’s reactions, and royal jelly patch test with extemporaneous preparation were performed. The specific IgE by ImmunoCAP System method versus Hymenoptera venom, inhalant allergens, food allergens, and lipid transfer proteins was dosed. According to the positive reactions to royal jelly both by prick-by-prick test and by a first reading patch test, royal jelly immediate hypersensitivity was diagnosed. According to the positive response for almond in both in vivo and in vitro tests we can think of the royal jelly contamination with almond pollen as possible cause of patient’s reaction. Moreover, from the results of specific IgE titers versus Compositae pollens, we have argued the possibility that this case of royal jelly allergy could be explained also by the mechanism of cross-reaction with Compositae pollens.

Hearing rehabilitation with single-stage bilateral vibroplasty in a child with Franceschetti syndrome.

Science.gov (United States)

Sargsyan, Sona; Rahne, Torsten; Kösling, Sabrina; Eichler, Gerburg; Plontke, Stefan K

2014-05-01

Hearing is of utmost importance for normal speech and social development. Even children who have mild or unilateral permanent hearing loss may experience difficulties with understanding speech, as well as problems with educational and psycho-social development. The increasing advantages of middle-ear implant technologies are opening new perspectives for restoring hearing. Active middle-ear implants can be used in children and adolescents with hearing loss. In addition to the well-documented results for improving speech intelligibility and quality of hearing in sensorineural hearing loss active middle-ear implants are now successfully used in patients with conductive and mixed hearing loss. In this article we present a case of successful, single-stage vibroplasty, on the right side with the fixation of the FMT on the stapes and PORP CLiP vibroplasty on the left side in a 6-year-old girl with bilateral mixed hearing loss and multiple dyslalia associated with Franceschetti syndrome (mandibulofacial dysostosis). CT revealed bilateral middle-ear malformations as well as an atretic right and stenotic left external auditory canal. Due to craniofacial dysmorphia airway and (post)operative, management is significantly more difficult in patients with a Franceschetti syndrome which in this case favoured a single-stage bilateral procedure. No intra- or postoperative surgical complications were reported. The middle-ear implants were activated 4 weeks after surgery. In the audiological examination 6 months after surgery, the child showed 100% speech intelligibility with activated implants on each side.

Poland's Syndrome: A Case Report

African Journals Online (AJOL)

jen

The Poland's anomaly was first described in 1841 by Sir Alfred Poland as a syndrome presenting with absence or underdevelopment of pectoralis ... He was the second child in a family of four. There was no familial history of similar .... hypoplasia: a middle degree of Poland syndrome. Acta Radiologica 1996; 37: 759-762. 8.

Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis.

Science.gov (United States)

Kaur, Amandeep; Kaur, Anupam

2016-09-01

Methylenetetrahydrofolate reductase (MTHFR) is the most important gene that participates in folate metabolism. Presence of valine instead of alanine at position 677 and elevated levels of homocystein causes DNA hypomethylation which in turn favours nondisjunction. In this study, we conducted a meta-analysis to establish link between maternal single-nucleotide polymorphism (SNP) and birth of Down's syndrome (DS) child. A total of 37 case-control studies were selected for analysis including our own, in which we investigated 110 cases and 111 control mothers. Overall, the result of meta-analysis showed significant risk of DS affected by the presence of maternal SNP (MTHFR 677 C-T OR = 0.816, 95% CI = 0.741-0.900, P <0.0001). Heterogeneity of high magnitude was observed among the studies. The chi-square value suggested a highly significant association between homozygous mutant TT genotype and birth of DS child (χ² = 23.63, P = 0.000). Genetic models suggested that 'T' allele possesses high risk for DS whether present in dominant (OR = 1.23, 95% CI = 1.13-1.34); codominant (OR = 1.17, 95% CI = 1.10-1.25) or recessive (OR = 1.21, 95% CI = 1.05-1.38) form. The analysis from all 37 studies combined together suggested that MTHFR 677 C-T is a major risk factor for DS birth.

Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES

Directory of Open Access Journals (Sweden)

Robinson Wilson S

2011-11-01

Full Text Available Abstract Type 1 hyper IgE syndrome (HIES, also known as Job's Syndrome, is an autosomal dominant disorder due to defects in STAT3 signaling and Th17 differentiation. Symptoms may present during infancy but diagnosis is often made in childhood or later. HIES is characterized by immunologic and non-immunologic findings such as recurrent sinopulmonary infections, recurrent skin infections, multiple fractures, atopic dermatitis and characteristic facies. These manifestations are accompanied by elevated IgE levels and reduced IL-17 producing CD3+CD4+ T cells. Diagnosis in young children can be challenging as symptoms accumulate over time along with confounding clinical dilemmas. A NIH clinical HIES scoring system was developed in 1999, and a more recent scoring system with fewer but more pathogonomonic clinical findings was reported in 2010. These scoring systems can be used as tools to help in grading the likelihood of HIES diagnosis. We report a young child ultimately presenting with disseminated histoplasmosis and a novel STAT3 variant in the SH2 domain.

Cerebral gigantism (Sotos' syndrome) and cataracts.

Science.gov (United States)

Yeh, H; Price, R L; Lonsdale, D

1978-01-01

A five-year-old girl with cerebral gigantism (Sotos' syndrome) and cataracts is described. Sotos' syndrome, characterized by generalized gigantism with normal endocrine studies has rarely been reported with ocular abnormalities and never with cataracts. It is important to study any child with cataracts for systemic disease.

Parent and Self-Report Health-Related Quality of Life Measures in Young Patients With Tourette Syndrome

Science.gov (United States)

Luoni, Chiara; Selvini, Claudia; Blangiardo, Rosanna; Eddy, Clare M.; Silvestri, Paola R.; Cali’, Paola V.; Gagliardi, Emanuela; Balottin, Umberto; Cardona, Francesco; Rizzo, Renata; Termine, Cristiano

2013-01-01

Tourette syndrome is a neurodevelopmental disorder characterized by tics and comorbid behavioral problems. This study compared child- and parent-reported quality of life and everyday functioning. We assessed 75 children with Tourette syndrome, of which 42 (56%) had comorbid conditions (obsessive-compulsive disorder = 25; attention-deficit hyperactivity disorder = 6; both comorbidities = 4). All patients completed psychometric instruments, including the Gilles de la Tourette Syndrome–Quality of Life Scale for Children and Adolescents (child report) and the Child Tourette’s Syndrome Impairment Scale (parent report). Data were compared for patients with pure Tourette syndrome, Tourette syndrome + obsessive-compulsive disorder, Tourette syndrome + attention-deficit hyperactivity disorder, and Tourette syndrome + both comorbidities. There were no group differences in quality of life. However, there were differences for total, school, and home activities impairment scores. Children and parents may not share similar views about the impact of Tourette syndrome on functioning. The measurement of health-related quality of life in Tourette syndrome is more complex in children than adults. PMID:22952315

Bilateral Anterior Opercular Syndrome With Partial Kluver?Bucy Syndrome in a Stroke Patient: A Case Report

OpenAIRE

Cho, Ah-Ra; Lim, Young-Ho; Chung, Sae-Hoon; Choi, Eun-Hi; Lim, Jong Youb

2016-01-01

Bilateral anterior opercular syndrome and partial Kluver?Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersex...

South African Journal of Child Health - Vol 6, No 1 (2012)

African Journals Online (AJOL)

Hyperimmunoglobulin E syndrome with Sjogren's syndrome in a child · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. R Mondal, S Sarkar, V Aggarwal, T Sabui, 21-22 ...

Paediatric radiology. 2. enl. and tot. rev. ed.

International Nuclear Information System (INIS)

Benz-Bohm, G.

2005-01-01

This book presents a current, comprehensive and clearly written introduction to the often-neglected field of paediatric radiology, from important aspects of radiation protection to the specific anatomic features of the growing skeleton and the special anatomy of the thorax and abdomen of newborns and infants. Special knowledge is imparted on the radiology of trauma effects in infant age and the 'battered child syndrome'. The diseases and findings are presented in an organ-specific and topographic manner. There are special chapters on sonography, CT and MRT in infants. The structure of the book serves two purposes. First, the reader can obtain information on specific diseases; secondly, the particular features of examination techniques and the specifics of paediatric radiology are presented. (orig.) [de

Benefits to Down's syndrome children through training their mothers.

Science.gov (United States)

Bidder, R T; Bryant, G; Gray, O P

1975-05-01

This study investigated the hypothesis that training of mothers with Down's syndrome children would be beneficial both to the child and parents. The mothers were taught behaviour modification techniques based on learning theory and were given group discussions on dealing with their family or personal problems. The subjects were 16 mothers with a Down's syndrome child, divided into two groups on the basis of their child's sex and chronological and mental ages. The Griffiths Scale was used for assessment. The mothers in the treatment group received 12 sessions of training and group counseling over a 6-month period, whereas the control mothers received no additional attention except the usual routine from the general practitioner and health visitor. The result show clear gains to both the child and mother in the treatment group. The child improved, especially in language development as well as in the other areas, and the mother-gained more confidence and competence in her daily management of the child.

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.

SECKEL SYNDROME in a 9 Year Old Child

OpenAIRE

Edwin Dias; Doralli P; Deeksha A; M. Zulqarnain

2017-01-01

Seckel Syndrome first defined by Seckel in 1959, is a rare (incidence 1:10000) genetically heterogeneous, autosomal recessive disorder presenting at birth. This syndrome is characterised by a proportionate dwarfism of prenatal onset, severe microcephaly with a bird headed appearance (beaked nose, receding forehead, prominent eyes and micrognathia) and mental retardation in addition to the characteristics craniofacial dysmorphism and skeletal defects, abnormalities have been described in the ...

Usher's syndrome--case report.

Science.gov (United States)

Kwiecień, Sława; Sulak, Robert; Szaflik, Jerzy

2008-01-01

The aim of this study is to present a case of coincidence of sensorineural hearing loss with chronic recurrent bilateral cystoid macular oedema in a 32-year-old woman, who was admitted to the clinic for deterioration of visual acuity of four months' duration. The patient gave a history of hearing loss for 29 years. Visual field examination disclosed peripheral ring scotoma. Electrophysiological examination was performed: pattern visual evoked response was within normal limits and electroretinogram displayed diminished both photopic and scotopic response. As ophthalmoscopy demonstrated no pigment in the fundus of the eye, the findings were consisted with diagnosis of retinitis pigmentosis sine pigmento. The presence of loss of hearing indicated the necessity of performing the genetic examination for Usher's syndrome. In order to establish a final diagnosis of Usher's syndrome genetic examination must be performed, but family history is relevant. Early investigation for Usher's syndrome in children with sensorineural hearing impairment is of a great significance. The patient may develop symptoms of retinitis pigmentosa in second or even third decade of his life. The necessity of thorough investigation for detecting other systemic abnormalities should be emphasized. There is no effective treatment of this syndrome. A child with Usher's syndrome requires a comprehensive care of different medical specialties. Psychological, educational and sociological attitude is also of a great importance in the child development.

Longitudinal Neuropsychological Profile in a Patient with Triple A Syndrome

Directory of Open Access Journals (Sweden)

Luigi Mazzone

2013-01-01

Full Text Available Triple A syndrome is an autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone resistant adrenal insufficiency, achalasia, and alacrima. Our aim was to describe the neuropsychological characteristics and the cooccurring psychopathological and neurological disorders in an Italian male child suffering from Triple A syndrome at the time of admission (T0 and after one year of follow-up (T1. Many difficulties were observed in the motor domain, as well as in manual dexterity and static/dynamic balance domains of the motor task over time. In sharp contrast with previous literature reports on frequent mild cognitive dysfunction in patients with Triple A syndrome, our child did not show any mental retardation. By contrast, he showed an average IQ at T0 with a slight improvement at T1. To our knowledge, this report is the first describing neuropsychological profile and co-occurring psychopathological problems in a child with Triple A syndrome. Considering that the Triple A syndrome is a progressive disorder which can take years to develop the full-blown clinical picture, these patients require periodical medical controls. Moreover, assessment of neuropsychological and psychopathological features should be performed in patients with this disease, in order to underline the variability of this syndrome.

Hallermann-Streiff syndrome

Directory of Open Access Journals (Sweden)

Jayakar Thomas

2013-01-01

Full Text Available Hallermann-Streiff syndrome (HSS is a rare disorder characterized by dyscephalia, with facial and dental abnormalities. We report a 12-year-old female child who presented with abnormal facial features, dental abnormalities and sparse scalp hair.

THE ATTENUATING EFFECT OF EMPOWERMENT ON IPV-RELATED PTSD SYMPTOMS IN BATTERED WOMEN LIVING IN DOMESTIC VIOLENCE SHELTERS

Science.gov (United States)

Perez, Sara; Johnson, Dawn M.; Wright, Caroline Vaile

2010-01-01

Intimate partner violence (IPV) is associated with significant psychological distress, including posttraumatic stress disorder (PTSD). However, factors that attenuate the impact of IPV on PTSD remain largely unknown. Using hierarchical regression, this investigation explored the impact of resource acquisition and empowerment on the relationship between IPV and PTSD. Empowerment demonstrated greater relative importance over resource acquisition. Specifically, empowerment was found to attenuate the impact of IPV severity on PTSD at low and moderate levels of violence. The importance of fostering empowerment and addressing PTSD in addition to provision of resources in battered women is discussed. PMID:22411301

Joubert syndrome

International Nuclear Information System (INIS)

Villanua, J.A.; Lopez, J.M.; Recondo, J.A.; Garcia, J.M.; Gaztanaga, R.

1998-01-01

Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

Clinics in Mother and Child Health

African Journals Online (AJOL)

Clinics in Mother and Child Health is a bilingual journal and publishes (in ... Health Care Facility in South-South Nigeria: The Need for Middle Level Health Manpower ... Le syndrome des ovaires micropolykystiques chez les femmes infertiles à ...

Parent Stress and Perceptions of Language Development: Comparing Down Syndrome and Other Developmental Disabilities

Science.gov (United States)

Smith, Ashlyn L.; Romski, MaryAnn; Sevcik, Rose A.; Adamson, Lauren B.; Barker, R. Michael

2013-01-01

This study extended research on the Down syndrome advantage by examining differences in parent stress and parent perceptions of language development between 29 parents of young children with Down syndrome and 82 parents of children with other developmental disabilities. Parents of children with Down syndrome reported lower levels of total stress, child-related stress, and stress surrounding the parent-child interaction. Parents of children in both groups reported that they felt successful in their ability to impact their children’s communication development but did differ on perceptions of difficulty such that parents of children with Down syndrome perceived their children’s communication difficulties as less severe despite the children exhibiting similar language skills. Finally, after accounting for potential explanatory confounding variables, child diagnosis remained a significant predictor of parent stress and perceptions of language development. Results highlight the importance of considering etiology when assisting families raising a child with a disability. PMID:24753637

Measurement of batter movements in brown coal open cuts - results of a research project

Energy Technology Data Exchange (ETDEWEB)

Nehring, H

1984-05-01

In the course of a research project sponsored by the State of North Rhine-Westphalia the mine surveying methods used when measuring deformation on open cut batters were further developed, by taking into account the special conditions prevailing in open cuts, to such an extent that the essential monitoring of soil movements can be carried out reliably and promptly. As an integral part of an optimised, accurate geodetic measurement of points, the direct measurement of longitude across the open cut was introduced as a rapid measuring method. The aerophotogrammetric measurement of points is practically as accurate as terrestrial surveying. The author describes the prototype of an automatically operated instrument system for the monitoring of points. In conclusion he also stresses that the first promising advance has already been made as regards the sufficiently accurate monitoring of rock movements in boreholes.

Lenz microphthalmic syndrome in an Indian patient

Directory of Open Access Journals (Sweden)

Gupta Arvind

2007-01-01

Full Text Available A case of Lenz microphthalmia syndrome in a seven-month-old male child having features of unilateral anophthalmia, microcephaly, external ear and finger abnormalities, hydrocele and hypospadias is being reported. The unilateral involvement and anophthalmia is rare in Lenz syndrome. The manifestation of hydrocele in association with this syndrome has not been seen in earlier cases. This is the first documented case from India.

Antley-Bixler syndrome with radioulnar synostosis

International Nuclear Information System (INIS)

Hurley, Maja E.; Kelleher, Jerry; White, Martin J.; Green, Andrew J.

2004-01-01

This report describes a newborn boy with Antley-Bixler (AB) syndrome. AB syndrome is a rare disorder characterized mainly by craniosynostosis and multiple joint contractures including radiohumeral synostosis. Our patient differs from the usual presentation by the presence of radioulnar rather than a radiohumeral synostosis. In addition, the child had a FGFR1 1300T mutation, which has not previously been associated with AB syndrome. Thus, our patient presents unique features and represents another argument in favour of an AB-like spectrum rather than a single syndrome. (orig.)

Hypereosinophilic syndrome with hepatic involvement in a young child

Energy Technology Data Exchange (ETDEWEB)

Jung, Mi Ran; Goo, Hyun Woo; Hong, Seong Sook; Yoon, Chong Hyun [Ulsan University College of Medicine, Seoul (Korea, Republic of)

2003-09-01

Hypereosinophilic syndrome, whose etiology in unknown, involves the infiltration of various organs by a large number of eosinophils. The sites of involvement are the heart, skin, lung, liver, nervous system, and gastrointestinal tract. The disorder occurs mostly in middle-aged men and is characterized by striking peripheral eosinophilia. There have been few reports of hypereosinophilic syndrome in patients younger than 15 years and the disease also shows a predilection for males. We report a case of hypereosinophilic syndrome with hepatic involvement in a 17-month-old girl, and correlate the imaging features with the pathologic findings.

Hypereosinophilic syndrome with hepatic involvement in a young child

International Nuclear Information System (INIS)

Jung, Mi Ran; Goo, Hyun Woo; Hong, Seong Sook; Yoon, Chong Hyun

2003-01-01

Hypereosinophilic syndrome, whose etiology in unknown, involves the infiltration of various organs by a large number of eosinophils. The sites of involvement are the heart, skin, lung, liver, nervous system, and gastrointestinal tract. The disorder occurs mostly in middle-aged men and is characterized by striking peripheral eosinophilia. There have been few reports of hypereosinophilic syndrome in patients younger than 15 years and the disease also shows a predilection for males. We report a case of hypereosinophilic syndrome with hepatic involvement in a 17-month-old girl, and correlate the imaging features with the pathologic findings

Teaching spontaneous responses to a young child with Down syndrome.

Science.gov (United States)

Feeley, Kathleen; Jones, Emily

2008-10-01

Children with Down syndrome experience significant communication impairments, particularly in expressive language. Although receiving little attention in the literature, deficiencies in expressive language are likely to affect spontaneous communicative responses in children with Down syndrome. In this study, using a multiple baseline design across responses, we demonstrated the effectiveness of discrete trial instruction in establishing spontaneous responses in a preschooler with Down syndrome. Spontaneous responses generalised to a novel setting involving a novel person and novel materials. Implications for the use of behaviourally based interventions to address the social-communicative needs of children with Down syndrome are discussed.

Marshall syndrome in a young child, a reality

OpenAIRE

Trandafir, Laura Mihaela; Chiriac, Madalina Ionela; Diaconescu, Smaranda; Ioniuc, Ileana; Miron, Ingrith; Rusu, Daniel

2016-01-01

Abstract Background: Recurrent fever syndrome, known as the Marshall syndrome (MS), is a clinical entity that includes several clinical features, such as: fever (39?40?C) that occurs repeatedly at variable intervals (3?8 weeks) and in episodes of 3 to 6 days, cervical adenopathy, pharyngitis, and aphthous stomatitis. The diagnosis of MS is one of exclusions; laboratory data is nonspecific and no abnormalities correlated with MS have been detected thus far. Methods: The authors report the case...

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.

Science.gov (United States)

Bonioli, E; Palmieri, A; Bertola, A; Bellini, C

1995-01-01

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.

Oculoauriculovertebral spectrum with radial anomaly in child.

Science.gov (United States)

Taksande, Amar; Vilhekar, Krishna

2013-01-01

Oculoauriculovertebral spectrum (OAVS) or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the cheekbones, jaws, mouth, ears, eyes, or vertebrae. Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial-renal syndrome, facioauriculoradial dysplasia, Fanconi anemia, and Vertebral, Anal atresia, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL) association should be considered for differential diagnosis. Here we report a child who had facial asymmetry, microsomia, microtia, congenital facial nerve palsy, conductive hearing loss, skin tags, iris coloboma, and preaxial polydactyly.

Oculoauriculovertebral spectrum with radial anomaly in child

Directory of Open Access Journals (Sweden)

Amar Taksande

2013-01-01

Full Text Available Oculoauriculovertebral spectrum (OAVS or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the cheekbones, jaws, mouth, ears, eyes, or vertebrae. Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial-renal syndrome, facioauriculoradial dysplasia, Fanconi anemia, and Vertebral, Anal atresia, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL association should be considered for differential diagnosis. Here we report a child who had facial asymmetry, microsomia, microtia, congenital facial nerve palsy, conductive hearing loss, skin tags, iris coloboma, and preaxial polydactyly.

Abnormal Auditory Brainstem Response (ABR Findings in a Near-Normal Hearing Child with Noonan Syndrome

Directory of Open Access Journals (Sweden)

Bahram Jalaei

2017-01-01

Full Text Available Introduction: Noonan syndrome (NS is a heterogeneous genetic disease that affects many parts of the body. It was named after Dr. Jacqueline Anne Noonan, a paediatric cardiologist.Case Report: We report audiological tests and auditory brainstem response (ABR findings in a 5-year old Malay boy with NS. Despite showing the marked signs of NS, the child could only produce a few meaningful words. Audiological tests found him to have bilateral mild conductive hearing loss at low frequencies. In ABR testing, despite having good waveform morphology, the results were atypical. Absolute latency of wave V was normal but interpeak latencies of wave’s I-V, I-II, II-III were prolonged. Interestingly, interpeak latency of waves III-V was abnormally shorter.Conclusion:Abnormal ABR results are possibly due to abnormal anatomical condition of brainstem and might contribute to speech delay.

Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

Directory of Open Access Journals (Sweden)

Rabah M. Shawky

2017-01-01

Full Text Available We report a 3.5 year old male child, first in order of birth of healthy consanguineous Egyptian parents with typical characteristics of Kabuki make-up syndrome. The patient had microcephaly, high arched sparse eyebrows, hypertelorism, long palpebral fissures with eversion of the lateral third of the lower eyelids, bilateral ptosis, long eyelashes, blue sclera, depressed nasal bridge, broad nose with everted nares, and low set small deformed ears, thin lips, low post hair line, short neck, persistent fingertip pads, dysplastic nails, hypermobile joints, pigmented nevus on the back, lateral side of right foot and right leg and mild hypertrichosis over the lower back. Our patient had also a non-functioning left kidney, multiple chalazions in upper eyelids, enlargement of the glans penis, which were not reported previously, and moderate mental retardation.

Ehlers-Danlos syndrome

Directory of Open Access Journals (Sweden)

Wakhloo Tulika

2015-01-01

Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

Mastoid abnormalities in Down syndrome

Energy Technology Data Exchange (ETDEWEB)

Glass, R.B.J.; Yousefzadeh, D.K.; Roizen, N.J.

1989-06-01

Hearing loss and otitis media are commonly associated with Down syndrome. Hypoplasia of the mastoids is seen in many affected children and sclerosis of mastoid bones is not uncommon in Down syndrome. Awareness and early recognition of mastoid abnormality may lead to appropriate and timely therapy, thereby preserving the child's hearing or compensating for hearing loss; factors which are important for learning and maximum development.

Mastoid abnormalities in Down syndrome

International Nuclear Information System (INIS)

Glass, R.B.J.; Yousefzadeh, D.K.; Roizen, N.J.

1989-01-01

Hearing loss and otitis media are commonly associated with Down syndrome. Hypoplasia of the mastoids is seen in many affected children and sclerosis of mastoid bones is not uncommon in Down syndrome. Awareness and early recognition of mastoid abnormality may lead to appropriate and timely therapy, thereby preserving the child's hearing or compensating for hearing loss; factors which are important for learning and maximum development. (orig.)

Successful pulmonary venous channeling in a case of scimitar syndrome

International Nuclear Information System (INIS)

Fatimi, S.; Sheikh, S.; Syed, A.

2006-01-01

A young girl child with recurrent pneumonias, failure to thrive and dextroposed heart was diagnosed with and surgically treated for scimitar syndrome. Early diagnosis and treatment of this syndrome prevents serious morbidity. (author)

Extensive formation of sinkholes in unconsolidated rock due to underground erosive removal of sand at a marginal batter of an opencast mine - causes, process and geotechnical safety measures. Grossflaechige Erdfallbildungen im Lockergestein durch unterirdische erosive Ausraeumung von Sand and einer Tagebauendboeschung - Ursachen, Verlauf und geotechnische Sicherung

Energy Technology Data Exchange (ETDEWEB)

Pfeiffer, H

1991-08-01

When the ground water rose in the marginal batter of an opencast mine damage occurred. This was caused by the processes of internal erosion and suffusion in fine sand layers of slight thickness and by the disintegration of the overlying strata due to the formation of sinkholes. Effective safety measures involved lowering the ground-water level in the zone immediately in front of the area in question and installing an auxiliary filter unit at the marginal batter. (orig.).

Waardenburg's Syndrome in a Nigerian Family | Onabolu | Nigerian ...

African Journals Online (AJOL)

Both girls presented with white forelock, heterochromia irides and sensorineural deafness. WS is inherited as an ... Deafness, which is the most disabling feature of this syndrome should be identified early to prepare the child for proper education. KEY WORDS: Waardenburg's Syndrome, genetic mutation, deafness. [Nig.

Posterior microphthalmos pigmentary retinopathy syndrome.

Science.gov (United States)

Pehere, Niranjan; Jalali, Subhadra; Deshmukh, Himanshu; Kannabiran, Chitra

2011-04-01

Posterior Microphthalmos Pigmentary Retinopathy Syndrome (PMPRS). Posterior microphthalmos (PM) is a relatively infrequent type of microphthalmos where posterior segment is predominantly affected with normal anterior segment measurements. Herein, we report two siblings with posterior microphthalmos retinopathy syndrome with postulated autosomal recessive mode of inheritance. A 13-year-old child had PM and retinitis pigmentosa (RP) and his 7-year-old sister had PM, RP, and foveoschisis. The genetics of this syndrome and variable phenotype is discussed. Importance of being aware of posterior microphthalmos and its posterior segment associations is highlighted.

MUNCHAUSEN SYNDROME BY PROXY IN PEDIATRIC DENTISTRY: MYTH OR REALITY?

Directory of Open Access Journals (Sweden)

Veronica PINTILICIUC-ŞERBAN

2017-06-01

Full Text Available Background and aims: Munchausen syndrome by proxy is a condition traditionally comprising physical and mental abuse and medical neglect as a form of psychogenic maltreatment of the child, secondary to fabrication of a pediatric illness by the parent or guardian. The aim of our paper is to assess whether such condition occurs in current pediatric dental practice and to evidence certain situations in which the pediatric dentist should suspect this form of child abuse. Problem statement: Munchausen syndrome by proxy in pediatric dentistry may lead to serious chronic disabilities of the abused or neglected child, being one of the causes of treatment failure. Discussion: Prompt detection of such condition should be regarded as one of the duties of the practitioner who should be trained to report the suspected cases to the governmental child protective agencies. This should be regarded as a form of child abuse and neglect, and the responsible caregiver could be held liable when such wrongful actions cause harm or endanger child’s welfare. Conclusion: Munchausen syndrome by proxy should be regarded as a reality in current pediatric dental practice and dental teams should be trained to properly recognize, assess and manage such complex situations.

Presenting Symptoms in Pediatric Restless Legs Syndrome Patients

NARCIS (Netherlands)

de Weerd, Al; Arico, Irene; Silvestri, Rosalia

2013-01-01

Objective: The diagnosis restless legs syndrome (RLS) in children depends on the history told by the child and his parents. The description of symptoms given by the child him or herself is most important. Additional criteria are, among others, the results of polysomnography (PSG). Description of the

Vitreous veils and radial lattice in Marshall syndrome.

Science.gov (United States)

Brubaker, Jacob W; Mohney, Brian G; Pulido, Jose S; Babovic-Vuksanovic, Dusica

2008-12-01

To report the findings of membranous vitreous veils and radial lattice in a child with Marshall syndrome. Observational case report. Retrospective review of medical records and fundus photograph of a 6-year-old boy with Marshall syndrome. Vitreoretinal findings were significant for bilateral membranous vitreous veils and radial lattice degeneration. This case demonstrates the occurrence of vitreous veils and radial lattice degeneration in patients with Marshall syndrome.

ROHHAD Syndrome: The Girl who Forgets to Breathe.

Science.gov (United States)

Sanklecha, Mukesh; Sundaresan, Suba; Udani, Vrajesh

2016-04-01

ROHHAD syndrome is an exceedingly rare cause of central hypoventilation. A 7-year-old girl with ROHHAD syndrome who had central hypoventilation, rapid weight gain, multiple cardiac arrests and hyperprolactinemia. She required prolonged and repeated ventilation, and finally died due to complications of ventilation. ROHHAD Syndrome should be suspected in any child who presents with obesity, behavioral changes or autonomic instability following a neural crest tumor.

Parental Alienation Syndrome

Directory of Open Access Journals (Sweden)

Fuat Torun

2011-09-01

Full Text Available Children who have been programmed by one parent to be alienated from the other parent are commonly seen in the context of child-custody disputes. Its primary manifestation is the child’s campaign of denigration against a parent, a campaign that has no justification. It is said to result from a combination of a programming (brainwashing parent’s indoctrinations and the child’s own contributions to the vilification of the targeted parent. Many evaluators use the term parental alienation syndrome to refer to the disorder engendered in such children. However, there is significant controversy going on about the validity of parental alienation syndrome. The purpose of this article has been to describe and help to differentiate parental alienation syndrome and abuse for mental health professionals working in the field, and discuss the arguments about the validity of this syndrome.

Beckwith-Wiedemann syndrome and bilateral adrenal pheochromocytoma: sonography and MRI findings

Energy Technology Data Exchange (ETDEWEB)

Baldisserotto, Matteo; Peletti, Adriana Barcellos; Araujo, Manoel Angelo de; Pertence, Ana Paula Cardoso; Dora, Marcelo Dourado; Maciel, Elines Oliva; Gaiger, Ana Maria [Hospital da Crianca Conceicao, Departamento de Radiologia, Porto Alegre, RS (Brazil)

2005-11-01

Beckwith-Wiedemann syndrome is characterized by a group of clinical abnormalities, the most frequent of which are omphalocele, macroglossia, gigantism, neonatal hypoglycemia and umbilical hernia. The association of this syndrome with malignant tumors is well documented. We report a child with this syndrome associated with bilateral adrenal pheochromocytoma. (orig.)

Beckwith-Wiedemann syndrome and bilateral adrenal pheochromocytoma: sonography and MRI findings

International Nuclear Information System (INIS)

Baldisserotto, Matteo; Peletti, Adriana Barcellos; Araujo, Manoel Angelo de; Pertence, Ana Paula Cardoso; Dora, Marcelo Dourado; Maciel, Elines Oliva; Gaiger, Ana Maria

2005-01-01

Beckwith-Wiedemann syndrome is characterized by a group of clinical abnormalities, the most frequent of which are omphalocele, macroglossia, gigantism, neonatal hypoglycemia and umbilical hernia. The association of this syndrome with malignant tumors is well documented. We report a child with this syndrome associated with bilateral adrenal pheochromocytoma. (orig.)

Leisure time of families with children suffering from Asperger syndrome

Directory of Open Access Journals (Sweden)

Zumarova M.

2016-01-01

Full Text Available Asperger' s syndrome is one of the pervasive developmental disorders according to the International Classification of Diseases (tenth revision. Problems of this type of disability are found in many areas, for example – the system of care, diagnosis, education, the number of organizations that deal with this condition and provide these services. Recent research has shown an increase in autism spectrum disorders (every hundredth child is born with this diagnosis. Children with Asperger syndrome are intrinsically “blind” in public and seem rude, and these situations are not easy for their parents. The most difficult area for parents is free time. Children cannot organize their leisure time, plus the ability to meaningfully spend their time is very limited. Incidence of organizations offering leisure activities for people with autism is usually larger in big cities, because the concentration of these children is greater. The aim of this paper is to characterize the basic theoretical background and find out what leisure time possibilities exist for a family having a child with Asperger's syndrome. How can a family with a child with Asperger's syndrome spend leisure time?

Noonan's and DiGeorge syndromes with monosomy 22q11.

OpenAIRE

Wilson, D I; Britton, S B; McKeown, C; Kelly, D; Cross, I E; Strobel, S; Scambler, P J

1993-01-01

A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported. He had a normal karyotype but molecular analysis revealed a submicroscopic deletion within chromosome 22q11, the region deleted in DiGeorge syndrome. Thus this child has both Noonan's syndrome and DiGeorge syndrome; 22q11 is a candidate region for a gene defective in Noonan's syndrome.

[Constitutional mismatch repair deficiency syndrome].

Science.gov (United States)

Jongmans, Marjolijn C; Gidding, Corrie E; Loeffen, Jan; Wesseling, Pieter; Mensenkamp, Arjen; Hoogerbrugge, Nicoline

2015-01-01

Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. An 8-year-old girl was diagnosed with CMMR-D syndrome after she developed a brain tumour at the age of 4 and a T-cell non-Hodgkin lymphoma at the age of 6. She had multiple hyperpigmented skin lesions and died of myelodysplastic syndrome at the age of 11. In children with cancer CMMR-D syndrome can be recognized particularly if there are multiple primary malignancies and skin hyperpigmentations and hypopigmentations. The parents of these children are at high risk for colorectal and endometrial cancer (Lynch syndrome), amongst others.

Sweet syndrome revealing systemic lupus erythematosus.

LENUS (Irish Health Repository)

Quinn, N

2015-02-01

Sweet Syndrome is an acute inflammatory skin eruption which is rare in children. We report a case of childhood Systemic Lupus Erythematosus (SLE) that presented with Sweet syndrome. This case is a unique presentation of a common disorder which provides a new facet for the differential diagnosis of SLE in children. It is also the first paediatric case to be reported in a Caucasian child.

Olmsted syndrome

Directory of Open Access Journals (Sweden)

Kumar Pramod

2008-01-01

Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

Genetics Home Reference: Down syndrome

Science.gov (United States)

... called autism spectrum disorders, which affect communication and social interaction. People with Down syndrome often experience a gradual ... Kennedy Shriver National Institute of Child Health and Human Development GeneEd National Human Genome Research Institute National ...

Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

Directory of Open Access Journals (Sweden)

Tahir M. Malla

2016-01-01

Full Text Available There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conventional cytogenetic analysis of the case revealed premature sister chromatid separation. The premature centromeric separation was also confirmed by C banding analysis of the child. It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world. The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes.

Carpal Tunnel Syndrome in Aberrant Muscle Syndrome: A Case Report and Review of the Literature.

Science.gov (United States)

Steele, Jessica; Coombs, Christopher

2018-06-01

Aberrant Muscle Syndrome (AMS) is a rare congenital hand difference that is characterised by unilateral non-progressive muscular hyperplasia. The aetiology of aberrant muscle syndrome is not known, but a recently published case has shown a somatic PIK3CA activating mutation in a patient with AMS. Carpal tunnel syndrome (CTS) in children is rare. The most common causes are the mucopolysaccaridoses but space-occupying lesions have also been reported to cause CTS in children. We report the first case of CTS in a child with AMS successfully treated with open carpal tunnel release and excision of aberrant muscles.

Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report

Directory of Open Access Journals (Sweden)

Kalil Kotb

2012-01-01

Full Text Available Abstract Introduction Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, early atherosclerosis and facial features that resemble those of an aged person. Apart from diabetes mellitus, there are no reported abnormalities of thyroid, parathyroid, pituitary or adrenal function. Here, we report the case of a 10-year-old Egyptian child with Hutchinson-Gilford progeria syndrome and hypoparathyroidism. Case presentation A 10-year-old Egyptian boy was referred to our institution for an evaluation of recurrent attacks of muscle cramps, paresthesia of his fingertips and perioral numbness of two months duration. On examination, we found dilated veins present over his scalp with alopecia and frontal bossing, a beaked nose, thin lips, protruding ears, a high pitched voice with sparse hair over his eyebrows and eyelashes and micrognathia but normal dentition. His eyes appeared prominent and our patient appeared to have poor sexual development. A provisional diagnosis of progeria was made, which was confirmed by molecular genetics study. Chvostek's and Trousseau's signs were positive. He had low total calcium (5.4 mg/dL, low ionized calcium (2.3 mg/dL, raised serum phosphate (7.2 mg/dL, raised alkaline phosphatase (118 U/L and low intact parathyroid hormone (1.2 pg/mL levels. He was started on oral calcium salt and vitamin D; his symptoms improved with the treatment and his serum calcium, urinary calcium and alkaline phosphates level were monitored every three months to ensure adequacy of therapy and to avoid hypercalcemia. Conclusion Routine checking of serum calcium, phosphorus and parathyroid hormone will help in the early detection of hypoparathyrodism among children with progeria.

Asperger syndrome related suicidal behavior: two case studies

Directory of Open Access Journals (Sweden)

Kocourkova J

2013-11-01

Full Text Available Jana Kocourkova, Iva Dudova, Jiri Koutek Department of Child Psychiatry, Charles University Second Faculty of Medicine, University Hospital Motol, Prague, Czech Republic Abstract: Asperger syndrome hinders adaptation to developmental challenges during childhood and adolescence, particularly with regard to interpersonal relationships. Individuals with Asperger syndrome display lack of empathy and limited ability to understand social and emotional exchanges with other people. Individuals with Asperger syndrome are significantly exposed to the risk of suicidal behavior, especially during adolescence. The authors describe cases of suicidal behavior in two adolescent boys with Asperger syndrome. Keywords: Asperger syndrome, suicidal behavior, adolescence

Munchausen Syndrome by Proxy: A Study of Psychopathology.

Science.gov (United States)

Bools, Christopher; And Others

1994-01-01

This study evaluated 100 mothers with Munchausen Syndrome by Proxy (the fabrication of illness by a mother in her child). Approximately half of the mothers had either smothered or poisoned their child as part of their fabrications. Lifetime psychiatric histories were reported for 47 of the mothers. The most notable psychopathology was personality…

Parents' Translations of Child Gesture Facilitate Word Learning in Children with Autism, Down Syndrome and Typical Development.

Science.gov (United States)

Dimitrova, Nevena; Özçalışkan, Şeyda; Adamson, Lauren B

2016-01-01

Typically-developing (TD) children frequently refer to objects uniquely in gesture. Parents translate these gestures into words, facilitating children's acquisition of these words (Goldin-Meadow et al. in Dev Sci 10(6):778-785, 2007). We ask whether this pattern holds for children with autism (AU) and with Down syndrome (DS) who show delayed vocabulary development. We observed 23 children with AU, 23 with DS, and 23 TD children with their parents over a year. Children used gestures to indicate objects before labeling them and parents translated their gestures into words. Importantly, children benefited from this input, acquiring more words for the translated gestures than the not translated ones. Results highlight the role contingent parental input to child gesture plays in language development of children with developmental disorders.

Jervell and Lange-Nielson Syndrome masquerading as intractable epilepsy

Directory of Open Access Journals (Sweden)

Jagdish P Goyal

2012-01-01

Full Text Available The long QT syndrome (LQTS is a cause of syncope and sudden death. Jervell and Lange-Nielson syndrome (JLNS is an uncommon form of LQTS, having autosomal recessive transmission, and is associated with congenital deafness. We report a case of JLNS in a child who presented to us with refractory epilepsy. The cardiac cause of seizures was suspected as the child was hypotensive and pulseless during the episode of seizures. The child was diagnosed as JLNS based on Schwartz diagnostic criteria for LQTS and congenital sensorineural deafness. The child responded well to β-blocker therapy. Antiepileptic drugs were stopped. The screening of family members with ECG revealed a QT interval more than required for diagnosis of LQTS but they were asymptomatic. All asymptomatic family members were also put on metoprolol. All of them showed great improvement with the reduction of the QT interval on ECG. The patient was doing well on immediate follow-up.

Hepatorenal syndrome: a review | Gadour | Sudan Journal of ...

African Journals Online (AJOL)

The hepatorenal syndrome [HRS]is a reversible functional acute renal failure secondary to intense renal cortical vasoconstriction in a patient with liver disease. It affects around 40% of patients with cirrhosis and ascites1. The exact cause of the syndrome is not well understood. The state of liver dysfunction [Child-Pugh ...

Baraitser–Winter syndrome: An additional Egyptian patient with ...

African Journals Online (AJOL)

We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid. Our patient had also retinal hypoplasia, which was not reported previously in this syndrome, bilateral congenital ptosis, ...

Baraitser–Winter syndrome: An additional Egyptian patient with ...

African Journals Online (AJOL)

Rabah M. Shawky

2015-05-08

May 8, 2015 ... Abstract We report a 3.5 year old male child, second in order of birth of non consanguineous ... in this syndrome, bilateral congenital ptosis, hypertelorism, moderate mental .... ged from 2 month to 14 years and it may be intractable in some ... retardation: Baraitser–Winter syndrome or Noonan syndrome? J.

Dynamic stiffness and seismic input motion of a group of battered piles

International Nuclear Information System (INIS)

Wolf, J.P.

1979-01-01

The dynamic stiffness (impedance function) and the corresponding seismic input motion of a group of battered piles, which can be end-bearing and floating, situated in any desired configuration in horizontally stratified soil, are determined. The soil and the piles consist of (frequency-dependent) visco-elastic material with hysteretic damping. The base mat can be rigid or flexible. Any seismic excitation, for which the free-field motion can be calculated, can be specified (body waves, propagating at an arbitrary angle, generalized surface waves). The soil is discretized by toroidal finite elements in conjunction with a Fourier expansion in the circumferential direction. Radiation and hysteretic damping are accounted for. The dynamic-flexibility matrix of the soil is generated, superimposing the basic dynamic-flexibility coefficients calculated by applying sequentially a horizontal and a vertical force at all nodes located on the axis of symmetry. The influence of the soil which is subsequently replaced by piles is taken into consideration. Pile-soil-pile interaction is accounted for in this method. The formulation can also be applied to embedded foundation and buried structures such as tunnels and pipe systems. (Auth.)

Effects of multisensory yoga on behavior in a male child with Apert and Asperger syndrome

Directory of Open Access Journals (Sweden)

Michaela L Scroggins

2016-01-01

Full Text Available This case focused on a 7-year-old boy with Apert and Asperger's syndrome who attended 8, 45 min multisensory yoga sessions, twice a week, during 4-week camp. Results from the pre- and post-tests on Treatment and Research Institute for Autism Social Skills Assessment showed improvements in the total score changes from 19 to 7 for disruptive behaviors. Sparks Target Behavior Checklist scores changed from eight to one showing progression in ability to stay on task. Yoga Pose Rating Scale displayed the transformation in total scores from 80 = emerging to 115 = consistency in pose performance. The field notes revealed the positive development in expressive emotions, social engagement, and decline in looking around. Outside class parent and school behavioral specialist reported the improved ability to self-regulate stress using lion's breath and super brain. These findings indicate an improvement in behaviors that influenced the physical performance, emotional expression, and social interaction after yoga training for this child.

Mirrored symptoms in mother and child with chronic fatigue syndrome

NARCIS (Netherlands)

van de Putte, Elise M.; van Doornen, Lorenz J. P.; Engelbert, Raoul H. H.; Kuis, Wietse; Kimpen, Jan L. L.; Uiterwaal, Cuno S. P. M.

2006-01-01

Our aim with this study was to assess the relation between chronic fatigue syndrome in adolescents and fatigue and associated symptoms in their fathers and mothers, more specifically the presence of chronic fatigue syndrome-like symptoms and psychologic distress. In this cross-sectional study, 40

Experiencia de las parteras en la identificación de mujeres maltratadas durante el embarazo The midwives' experiences in the identification of battered women in pregnancy

Directory of Open Access Journals (Sweden)

Rosario Valdez-Santiago

2004-02-01

Full Text Available OBJETIVO: Explorar las experiencias de las parteras en la detección de mujeres maltratadas durante el embarazo, además de conocer los tipos de violencia que identifican con mayor facilidad. MATERIAL Y MÉTODOS: Estudio cualitativo en donde se entrevistó, entre enero y septiembre de 2001, a 12 parteras que forman parte del grupo de parteras del Instituto Nacional de Antropología e Historia de Morelos, México. Se hizo una selección de aquellas que se ubicaban en Cuernavaca y sus alrededores. RESULTADOS: Se reporta: a el proceso de identificación de violencia realizado por las parteras en la atención prenatal, el cual se basa en un patrón de conductas y actitudes de las mujeres maltratadas tales como descuido en su persona, timidez y, sobre todo, una falta de control en las decisiones sobre el cuidado a su salud, lo cual permite a las parteras hacer preguntas directas sobre violencia; b las violencias que identifican las parteras con mayor facilidad son la física y la emocional. La violencia sexual fue más difícil para su identificación de manera directa. CONCLUSIONES: Incluir a las parteras dentro de los planes y programas para atender a la violencia intrafamiliar, debido a que su práctica permite una respuesta de apoyo directo a las mujeres maltratadas que lo solicitan. Se propone desarrollar estrategias de capacitación especializada para esta población que atiende a un sector importante de mujeres embarazadas en México.OBJECTIVE: To explore the experiences of midwives in the identification of battered women during pregnancy and to describe the types of violence they identify most easily. MATERIAL AND METHODS: A qualitative study was conducted between January and September 2001 among twelve midwives from a group of midwives ascribed to the Instituto Nacional de Antropología e Historia (INAH, National Institute of Anthropology and History, in Morelos, Mexico. Participants were selected from those living in Cuernavaca City and

Interaction Between Syndromic and Non-Syndromic Factors Affecting Speech and Language Development in Treacher-Collins Syndrome

Directory of Open Access Journals (Sweden)

Marziyeh Poorjavad

2011-09-01

Full Text Available Background: Treacher-Collins syndrome is a congenital craniofacial disorder with multiple anomalies. This syndrome affects the maxilla, mandible, eyes, middle and outer ears, and soft palate. Conductive hearing loss due to the deformities of the middle and external ears is prevalent. The characteristics of this syndrome include multiple and serious threats to normal communication development in children. In this study, speech and language features of a Persian speaking child with this syndrome are presented.Case: The case was an 8-year old girl with Treacher-Collins syndrome and bilateral moderate conductive hearing loss due to atretic canal. In language and speech assessments, moderate hypernasality, numerous compensatory errors and morphosyntactic deficits were observed. There were 13 phonemes that were incorrectly produced at least in one position. Besides, she used 22 types of phonological processes that were abnormal and disappear before the age of three in normal Persian speaking children.Conclusion: Moderate hearing loss, velopharyngeal incompetency, malocclusion and dental anomalies, attention deficit/hyperactivity disorder (ADHD and environmental factors resulted in severe speech and language disorders in this case. These disorders affected her academic performance as well. Moderate hypernasality, numerous compensatory errors, and excessive and abnormal use of phonological processes were not presented as prevalent characteristics of Treacher-Collins syndrome in other resources.

Neonatal Bartter syndrome associated with ileal atresia and cystic fibrosis

Directory of Open Access Journals (Sweden)

A O Akuma

2013-01-01

Full Text Available A rare case of neonatal Bartter syndrome presenting with severe hyperkalemia is reported in a preterm child born to consanguineous parents. This child also had ileal atresia, and meconium plugs were found at laparotomy. The diagnosis of cystic fibrosis was subsequently made on genetic testing. Despite full intensive care management and surgical interventions, he died of respiratory failure after 70 days. This is the first reported case of such conglomeration of pathologies in a newborn child. Second, in highlighting this case we want clinicians to be aware that a subtype of neonatal Bartter syndrome can present with initial hyperkalemia so that an erroneous diagnosis of pseudohypoaldosteronism is not made when this is seen in combination with hyperkalemia and hyperrenin hyperaldosteronism.

Williams Syndrome: Daily Challenges and Positive Impact on the Family

Science.gov (United States)

Scallan, Susan; Senior, Joyce; Reilly, Colin

2011-01-01

Background: Despite the distinctive physical, cognitive, personality and behavioural characteristics associated with Williams syndrome, few studies to date have examined parental experiences of raising a child with this genetic syndrome. Methods: This explorative pilot study employed predominantly qualitative methodologies via face-to-face…

Influence of CHDs on psycho-social and neurodevelopmental outcomes in children with Down syndrome.

Science.gov (United States)

Visootsak, Jeannie; Huddleston, Lillie; Buterbaugh, Allison; Perkins, Adrienne; Sherman, Stephanie; Hunter, Jessica

2016-02-01

To evaluate the family psycho-social outcomes of children with Down syndrome and atrioventricular septal defect, and examine the impact of these variables on the child's neurodevelopmental outcome. This was a cross-sectional study that consisted of 57 children with Down syndrome - 20 cases and 37 controls - of ~12-14 months of age. In both groups, we assessed the development of the child, the quality of the child's home environment, and parenting stress. Compared with the Down syndrome without CHD group, the atrioventricular septal defect group revealed lower scores in all developmental domains, less optimal home environments, and higher parental stress. Significant differences in development were seen in the areas of cognition (p=0.04), expressive language (p=0.05), and gross motor (pneurodevelopmental deficits. Finding that parental stress and home environment may play a role in the neurodevelopmental outcomes may prompt new family-directed interventions and anticipatory guidance for the families of children with Down syndrome who have a CHD.

Apert′s Syndrome

Directory of Open Access Journals (Sweden)

B K Sohi

1980-01-01

Full Text Available A case of Apert′s syndrome in a one year old female child is described and literature reviewed. She was the first born of a young couple. She had congenital syndactyl of toes and fingers, acro-cephalic skull, flat facies, exophthalmos, hypertelorism and greasy skin. In addition to the typical radiological features of this syndrome which the patient showed, thickened first metacarpals forked at the base were also seen. There were two phalanges for each toe. Calcification was seen intracranially. These radiological features have not been mentioned so far in the literature reviewed.

A national profile of Tourette syndrome, 2011-2012.

Science.gov (United States)

Bitsko, Rebecca H; Holbrook, Joseph R; Visser, Susanna N; Mink, Jonathan W; Zinner, Samuel H; Ghandour, Reem M; Blumberg, Stephen J

2014-06-01

To provide recent estimates of the prevalence of Tourette syndrome among a nationally representative sample of US children and to describe the association of Tourette syndrome with indicators of health and functioning. Data on 65,540 US children aged 6 to 17 years from the 2011-2012 National Survey of Children's Health were analyzed. Parents reported whether a health care provider had ever told them their child had Tourette syndrome or other neurobehavioral or chronic health conditions and whether their child had current Tourette syndrome. Based on parents' report, 0.19% of US children had Tourette syndrome; the average age of diagnosis was 8.1 years. Children with Tourette syndrome, compared with those without, were more likely to have co-occurring neurobehavioral and other health conditions, meet criteria for designation as having a special health care need, receive mental health treatment, have unmet mental health care needs, and have parents with high parenting aggravation and parents who were contacted about school problems; they were less likely to receive effective care coordination or have a medical home. After controlling for co-occurring neurobehavioral conditions, the findings on parents being contacted about school problems and children having unmet mental health care needs were no longer significant. Tourette syndrome is characterized by co-occurring neurobehavioral and other health conditions, and poorer health, education, and family relationships. The findings support previous recommendations to consider co-occurring conditions in the diagnosis and treatment of Tourette syndrome. Future research may explore whether having a medical home improves outcomes among children with Tourette syndrome.

Bartsocas-Papas Syndrome: A Case Report and Review of the Literature.

Science.gov (United States)

Erturan, Gurhan; Holton, James; Wall, Steven; Giele, Henk

2016-04-01

Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited form of the popliteal pterygium syndrome characterized by severe growth retardation, midface hypoplasia, popliteal pterygia, and syndactyly. Almost all affected babies die in utero or infancy. We report the difficulties of reconstruction and ongoing plastic surgical management in an 8-year-old child with BPS. With increasingly sophisticated resuscitation and supportive techniques, it is possible that more patients with BPS will survive beyond the neonatal period. This raises new challenges with reconstruction highlighted by this case with a difficult balance between trying to overcome some of the profound effects of the syndrome versus diminishing quality of life for the child by repeated and often unsuccessful surgical procedures.

The prevalence of Down syndrome in County Galway.

Science.gov (United States)

O'Nualláin, S; Flanagan, O; Raffat, I; Avalos, G; Dineen, B

2007-01-01

This is a retrospective survey of all cases of Down syndrome recorded between 1981 and 2000 to mothers resident in Co. Galway. The study compares the incidence of Down syndrome in both decades and examines the effects of changing demographics on incidence rates. The overall prevalence rate was 26.8/10,000 live births for the full period. Although there were 5119 fewer births in the 1991-2000 period, the prevalence was 29.8/10,000 compared to 24.1/10,000 in the previous decade. Despite the falling birth rates and fertility rates observed in our study between the two decades we found that the higher prevalence of Down syndrome in the second decade was directly related to the significant increase in the proportion of women in the 30 plus age group. Our study also found the place of the child with Down syndrome in the family changed, with 25.3% being the 5th or more child in the first decade compared with 9.5% in the second decade.

Anton's syndrome and eugenics

DEFF Research Database (Denmark)

Kondziella, Daniel; Frahm-Falkenberg, Siska

2011-01-01

to the clinical neurosciences, including pioneering work in neurosurgery, neuropsychology, and child psychiatry. However, it has not been recognized in the English literature that Anton was also a dedicated advocate of eugenics and racial hygiene. This paper provides a case of Anton's syndrome and puts the works...

The Proteus syndrome.

Directory of Open Access Journals (Sweden)

Alavi S

1993-10-01

Full Text Available A race case of Proteus syndrome is presented. The main features of this hamartomatous condition are partial gigantism of hands and feet, hemihypertrophy, subcutaneous masses, epidermal nevi and bony abnormalities. The condition is extremely rare. Though the child had severe cosmetic disability, motor intellectual and language development was found to be normal.

Neonatal progeroid syndrome (Wiedemann-Rautenstrauch ...

African Journals Online (AJOL)

Rabah M. Shawky

2012-04-20

Apr 20, 2012 ... syndrome) in an Egyptian child with premature loss of teeth, and cafe´ au ... with small ear lobule, eyebrows were sparse with long eye- lashes ... and dry. Figure 1. Demonstrates facial features with large mouth and tongue.

Bartter syndrome associated with nephropathic cystinosis.

Science.gov (United States)

Osman, Nader M; Sanosi, Ali Al

2016-01-01

Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalaemia), increased blood pH (alkalosis) and normal to low blood pressure. There are three types of Bartter syndrome: neonatal, the classic type and Gitelman syndrome. Nephropathic cystinosis is an autosomal recessive disorder characterized by accumulation of free cystine in lysosomes due to disorder of lysosomal transport that can lead to end stage renal failure within 10 years and multiorgan impairment. We report a 5 year 9 month old child with Bartter syndrome associated with nephropathic cystinosis, hypothyroidism and rickets. Hitherto, only a handful of similar cases have been reported in the literature.

Case report: Noonan-like multiple central giant cell granuloma syndrome.

Science.gov (United States)

Bitton, Natalie; Alexander, Stanley; Ruggiero, Salvatore; Parameswaran, Ashish; Russo, Antonino; Ferguson, Fred

2012-01-01

The purpose of this report was to: summarize the care of a child between the ages of 12 to 16 years old born with Noonan-like central giant cell syndrome and unrelated common variable immune deficiency; provide information on the dental management of patients with Noonan's syndrome; and present a brief discussion of the recent associated genetic findings. A review of the common features of Noonan syndrome and Noonan-like central giant cell syndrome is also provided.

Serotonin syndrome following sibutramine poisoning in a child, with sequential quantification of sibutramine and its primary and secondary amine metabolites in plasma.

Science.gov (United States)

Bucaretchi, Fábio; de Capitani, Eduardo Mello; Mello, Sueli Moreira; Lanaro, Rafael; Barros, Roberta F; Fernandes, Luciane C R; da Costa, José Luiz; Hyslop, Stephen

2009-07-01

To report a case of serotonin syndrome (SS) after sibutramine overdose in a child. A 4-year-old girl was admitted 25 h after accidentally ingesting approximately 27 pills of sibutramine (15 mg, approximately 23 mg/kg). The child developed clinical features suggestive of SS, including diaphoresis, tachycardia, hypertension, agitation, insomnia, incoordination, hypertonia (lower limbs > upper limbs), and hallucinations. Serum creatine phosphokinase levels reached a peak on day 3 (2,577 U/L, reference value sibutramine and the active metabolites, M1 (mono-desmethyl sibutramine) and M2 (di-desmethyl sibutramine), by liquid chromatography/electrospray ionization tandem mass spectrometry in six sequential samples collected from 25 to 147 h post-ingestion revealed a nonlinear decrease in the log-scale plasma concentrations. Treatment was only supportive and involved prolonged sedation to control the agitation, sleeplessness, and hypertension; no cyproheptadine was used. The patient was discharged on day 6 and follow-up revealed no sequelae. To our knowledge, this is the first report of SS after sibutramine overdose in a child, with sequential monitoring of the plasma levels of the drug and its two active metabolites. The growing consumption of weight reducing pills may increase the risk of unintentional acute toxic exposures in children.

Adult Health: Worried About Empty Nest Syndrome?

Science.gov (United States)

... clinical diagnosis. Instead, empty nest syndrome is a phenomenon in which parents experience feelings of sadness and loss when the last child leaves home. Although you might actively encourage your ...

Effects of carrot pomace powder and a mixture of pectin and xanthan on the quality of gluten-free batter and cakes.

Science.gov (United States)

Majzoobi, Mahsa; Vosooghi Poor, Zahra; Mesbahi, Gholamreza; Jamalian, Jalal; Farahnaky, Asgar

2017-12-01

Carrot pomace powder (CPP) is a valuable by-product of carrot processing containing nutrients and fiber and can be utilized for enrichment of gluten-free products. The main purpose of this study was to determine the effects of various levels of CPP (0, 10, 20, and 30%) and a mixture of hydrocolloids (HC) including pectin and xanthan (1.5% of each) on the quality of batter and gluten-free cakes. With increasing the level of CPP and inclusion of HC the viscosity of the batter increased significantly from 87 mPa s for the control to >7000 mPa s for 30%CCP + HC sample. The density of the control batter was 1.2 g/cm 3 which reduced significantly to 0.899 g/cm 3 for HC sample. The pH of the cake reduced from 7.23 to 6.78 with addition of CPP but increased slightly with inclusion of HC. The density of the cake reduced from 0.510 g/cm 3 for the control to 0.395 g/cm 3 for 20%CCP + C sample. The texture of the cakes became softer, more springy and chewable with addition of CPP, CPP + HC, and HC. The control sample had the lowest uniformity index (0.178) which improved with addition of CPP and CPP + HC and a highly uniform cake with a uniformity index of 0.045 was obtained for the 30%CCP + HC cake. Addition of CPP increased the dark color of the cakes while inclusion of HC had no effect on the appearance of the cake and color. It was concluded that inclusion of maximum 30%CCP and 20%CPP + HC promoted the quality and sensory attributes of gluten-free cakes. Although different types of gluten-free products are available in the market, most of them contain insufficient amount of fiber and nutrients. Despite popularity, gluten-free cakes are poor in fiber and nutrient contents. Therefore, improving the nutritional value of these products has received an increasing attention by the food industry. Carrot pomace powder (CPP) is an available source of fiber and nutrients and hence can be utilized for enrichment of gluten-free products. This study showed that

Severe dapsone hypersensitivity syndrome in a child

Directory of Open Access Journals (Sweden)

So Yoon Choi

2013-06-01

Full Text Available Dapsone (4,4'-diaminodiphenylsulfone, DDS, a potent anti-inflammatory agent, is widely used in the treatment of leprosy and several chronic inflammatory skin diseases. Dapsone therapy rarely results in development of dapsone hypersensitivity syndrome, which is characterized by fever, hepatitis, generalized exfoliative dermatitis, and lymphadenopathy. Here, we describe the case of an 11-year-old Korean boy who initially presented with high fever, a morbilliform skin rash, generalized lymphadenopathy, hepatosplenomegaly, and leukopenia after 6 weeks of dapsone intake. Subsequently, he exhibited cholecystitis, gingivitis, colitis, sepsis, aseptic meningitis, disseminated intravascular coagulation, syndrome of inappropriate antidiuretic hormone secretion, pneumonia, pleural effusions, peritonitis, bronchiectatic changes, exfoliative dermatitis, and acute renal failure. After 2 months of supportive therapy, and prednisolone and antibiotic administration, most of the systemic symptoms resolved, with the exception of exfoliative dermatitis and erythema, which ameliorated over the following 4 months. Agranulocytosis, atypical lymphocytosis, aseptic meningitis, and bronchiectatic changes along with prolonged systemic symptoms with exfoliative dermatitis were the most peculiar features of the present case.

STATE OF THE ART ON MÜNCHAUSEN SYNDROME BY PROXY

Directory of Open Access Journals (Sweden)

LEONARDO A. RODRÍGEZ CELY

2003-07-01

Full Text Available Münchausen’s Syndrome by Power is a type of child abuse characterized by an adult responsible for aminor, in most cases the mother, who asserts that her child is sick, turning to the hospital, when in factit was her who caused the symptoms and the illness. This documentary study is attempting to expandthe knowledge about Münchausen’s Syndrome by Power (MSP as a form of Child Maltreatment inColombia, taking into account the psychological implications that deal with this type of maltreatmentin particular types of diagnosis and treatments being used in the country. Three initial chapters werewritten to present this study. First, there was a historical outline and a definition of Child Maltreatment,so as to contextualize the problem in Colombia, presenting some typologies. Secondly, the forms ofdiagnosis that are being used in Colombia were shown, and lastly MSP was defined and described indetail, emphasizing on the forms of diagnosis and treatments proposed by the authors.

Status of routine post-mortem computerized tomography in Odense, Denmark

DEFF Research Database (Denmark)

Leth, Peter Mygind

2008-01-01

rarely is a substitute for autopsy, but may contribute with important new information in many cases such as identifications (including mass-disasters), battered child, gunshot wounds, traffic accidents and air embolism. Computerized tomography provides documentation in digital form - easily stored...

Ellis-van Creveld syndrome in an Indian child: a case report

OpenAIRE

Veena, K.M.; Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth

2011-01-01

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congeni...

Opsoclonus-myoclonus syndrome: Correlation of radiographic and pathological observations

International Nuclear Information System (INIS)

Tuchman, R.F.; Alvarez, L.A.

1989-01-01

We report a case of a child with opsoclonus-myoclonus syndrome. Neuroradiological studies indicated a lesion in the cerebellar vermis. A cerebellar biopsy revealed changes consisting of Purkinje and granular cell loss with gliosis. This case report documents the correlation of radiologic and pathological findings in a patient with opsoclonus-myoclonus syndrome. (orig.)

78 FR 54255 - Single-Case Deviation From Competition Requirements: Maternal and Child Health (MCH) Bureau's...

Science.gov (United States)

2013-09-03

... Deviation From Competition Requirements: Maternal and Child Health (MCH) Bureau's Research Network on... practice over time (e.g., Preterm birth, Diabetes during pregnancy, Obesity, Nausea and vomiting of... disorders during pregnancy, Down syndrome); Studies that assess the maternal-child health workforce (e.g...

Parenting Young Children with and without Fragile X Syndrome

Science.gov (United States)

Sterling, Audra; Barnum, Leah; Skinner, Debra; Warren, Steven F.; Fleming, Kandace

2012-01-01

The purpose of this study was to examine maternal parenting styles across age-matched siblings using a within-family design, in which one child has Fragile X syndrome. Thirteen families participated; children were aged 16 to 71 months. Mothers completed several videotaped activities with each child separately as well as an interview. Mothers used…

Toksisk shock syndrom. Et tilfoelde hos et barn med forbroending

DEFF Research Database (Denmark)

Glazowski, M J; Ostergaard, G Z; Arpi, M

1992-01-01

A case of the toxic shock syndrome (TSS) in a burnt (scalded) child is presented. TSS is a condition most frequently associated with menstruating women using tampons. In recent years, however, increased knowledge of the syndrome has led to an increase in the number of reported cases associated...

Parents' perceptions during the transition to home for their child with a congenital heart defect: How can we support families of children with hypoplastic left heart syndrome?

Science.gov (United States)

March, Sarita

2017-07-01

The aim of the study was to explore the literature related to transitions in healthcare between the hospital and home that caregivers experience with a child who has a congenital heart defect (CHD), specifically related to hypoplastic left heart syndrome (HLHS). A systematic literature review was conducted searching OVID Medline, CINAHL, and PubMed to discover the caregivers' perceptions on their transitions between hospital care and home care of their child with a CHD. Articles included those with focus on the transitions of caregivers between hospital and home care for children with CHD. Excluded articles were studies focused on adolescents, transition to adult healthcare, mortality results, other diseases associated with CHDs, comparison of CHD treatments, feasibility studies, differences in care between hospitals, home monitoring, and comparison of videoconference and telephone home communication. Ten articles were selected. Many parents voiced their concerns with feeding their child, learning medical skills and knowledge, reported a disrupted relationship between parents and their child, and identified stress and anxiety associated with taking care of a child with a CHD. There were limited studies on caregivers' transitions with a child with HLHS, but there also was limited focus on the caregivers' experiences with transitions between hospital and home care for their child with any CHD. Research on the transition experience between hospital care and home care for caregivers of children born with a CHD, and a specific focus on HLHS from the caregivers' viewpoint, would provide insight into the perspective of caregivers during the numerous transitions. © 2017 Wiley Periodicals, Inc.

CROUZON SYNDROME: A CASE REPORT

Directory of Open Access Journals (Sweden)

Debdas

2015-07-01

Full Text Available Crouzon’s Syndrome is a rare autosomal dominant disorder. Normally, the sutures in the human skull fuse after the complete growth of the brain. But, if any of these sutures closes early then it may interfere with the growth of the brain. Premature sutural fusion most commonly involves sagittal suture followed by coronal suture. We report a case of 6 - year - old male child presented with characteristic features of Crouzon’s syndrome. Diagnosis was made on the basis of clinical and radiological findings.

Screening women for family violence in the maternal child healthcare setting.

Science.gov (United States)

Wyszynski, M E

2000-03-01

In the United States, a woman is battered in her home every 9 seconds, and up to 4,000 women are beaten to death every year, making family violence one of the most common crimes in the United States today. Family violence has been identified as a national health concern; however, long-standing societal belief, myths regarding family violence, and the lack of training for healthcare professionals have created barriers to identifying and caring for these women. There is no single profile of the victim or perpetrator of family violence. All women should be asked about family violence in a safe, nonthreatening manner at all healthcare visits, including when bringing children for pediatric visits. Family violence begins slowly and increases with time. Goals for caring for the battered woman include decreasing her isolation, increasing her safety, accurate documentation, and appropriate referrals.

Quality characteristics of battered and fried chicken: comparison of pressure frying and conventional frying.

Science.gov (United States)

Das, Rashmi; Pawar, Deepthi P; Modi, Vinod Kumar

2013-04-01

The marinated and battered chicken leg meat and breast meat were pressure fried and their physico-chemical qualities were compared to the conventional fried product (open pan deep fat frying). Shrinkage due to frying process was significantly lesser in case of pressure fried leg meat (PLM) and breast meat (PBM) as compared to products prepared by conventional frying leg meat (CLM) and breast meat (CBM). Also, juiciness of pressure fried chicken products was superior (p ≤ 0.05) than fried products obtained by the conventional method. PLM and PBM had lower fat content (p ≤ 0.05) compared to conventionally fried CLM and CBM. Lipid oxidation was higher (p ≤ 0.05) in conventional frying as compared to pressure frying. Irrespective of the type of chicken meat, conventionally fried meat required higher shear force as compared to pressure fried products. Salmonella, Staphylococcus aureus, Shigella and E. coli were not detected. The study indicates the usefulness and superiority of pressure frying in comparison to conventional deep fat frying.

Acquired retinal pigmentary degeneration in a child with 13q deletion syndrome.

Science.gov (United States)

Aguilera, Zenia P; Belin, Peter J; Cavuoto, Kara M; Jayakar, Parul; McKeown, Craig A

2015-10-01

Orbeli syndrome, or 13q deletion syndrome, is a rare condition caused by a distal deletion in the long arm of chromosome 13. The syndrome is characterized by severe physical malformations and developmental delays and has been associated with numerous ocular manifestations. We report the case of a 10-year-old boy with 13q deletion syndrome, who was evaluated for impaired vision and found to have bilateral retinal pigmentary changes resembling those seen in retinitis pigmentosa. There has only been one other case of retinal pigment variation in association with 13q deletion syndrome; however, this represents the first case of bilateral symmetric retinal pigmentary changes with corresponding rod and cone dysfunction on electroretinography. Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Assessing the impact of caring for a child with Dravet syndrome: Results of a caregiver survey.

Science.gov (United States)

Campbell, Jonathan D; Whittington, Melanie D; Kim, Chong H; VanderVeen, Gina R; Knupp, Kelly G; Gammaitoni, Arnold

2018-03-01

The objective of this study was to describe and quantify the impact of caring for a child with Dravet syndrome (DS) on caregivers. We surveyed DS caregivers at a single institution with a large population of patient with DS. Survey domains included time spent/difficulty performing caregiving tasks (Oberst Caregiving Burden Scale, OCBS); caregiver health-related quality of life (EuroQoL 5D-5L, EQ-5D); and work/activity impairment (Work Productivity and Activity Impairment questionnaire, WPAI). Modified National Health Interview Survey (NHIS) questions were included to assess logistical challenges associated with coordinating medical care. Thirty-four primary caregivers responded, and 30/34 respondents completed the survey. From OCBS, providing transportation, personal care, and additional household tasks required the greatest caregiver time commitment; arranging for child care, communication, and managing behavioral problems presented the greatest difficulty. EuroQoL 5D-5L domains with the greatest impact on caregivers (0=none, 5=unable/extreme) were anxiety/depression (70% of respondents≥slight problems, 34%≥moderate) and discomfort/pain (57% of respondents≥slight problems, 23%≥moderate). The mean EQ-5D general health visual analogue scale (VAS) score (0=death; 100=perfect health) was 67 (range, 11-94). Respondents who scored caregiver health. On the WPAI, 26% of caregivers missed >1day of work in the previous week, with 43% reporting substantial impact (≥6, scale=1-10) on work productivity; 65% reported switching jobs, quitting jobs, or losing a job due to caregiving responsibilities. National Health Interview Survey responses indicated logistical burdens beyond the home; 50% of caregivers made ≥10 outpatient visits in the past year with their child with DS. Caring for patients with DS exerts physical, emotional, and time burdens on caregivers. Supportive services for DS families are identified to highlight an unmet need for DS treatments. Copyright �

El Síndrome de Burnout en Operadores y Equipos de Trabajo en Maltrato Infantil Grave Burnout Syndrome in Severe Child Abuse Workers and Work Teams

Directory of Open Access Journals (Sweden)

Carmen Gloria Quintana

2005-05-01

Full Text Available Este artículo presenta los resultados de una investigación acerca de la percepción del síndrome de burnout en equipos de trabajo en maltrato infantil grave y su relación con aspectos propios de la temática, con los factores personales, grupales, organizacionales y del contexto socio-legal, e identifica y describe los factores protectores. Se utilizó un diseño metodológico de carácter cualitativo. Se trabajó con 19 profesionales de distintos equipos y un grupo de ex trabajadores, todos ligados a los programas de reparación del maltrato infantil grave del SENAME. Los resultados apuntan a definir que la falta de políticas públicas consistentes en el área, es la fuente que, ligada a dinámicas propias de la temática, más fuertemente incide en la aparición del síndrome de burnout en estos equipos. No obstante, fenómenos asociados a aspectos organizacionales también predisponen al burnout.This article presents the results of a research on the perception of Burnout Syndrome in teams working with severe child abuse and its relationship with the theme's inner aspects, personal, group, organizational and socio-legal factors. Moreover, it identifies and describes protective factors. A methodological design of a qualitative nature was used. It involved 19 professionals of various teams and a group of former workers. All of them were involved with SENAME's severe child abuse reparation programs. The results point to the lack of consistent public policies in the area as the cause -tied to the dynamics inherent to this theme- that most strongly influences the onset of Burnout Syndrome in these teams. Nevertheless, phenomena associated to organizational matters also predispose to the syndrome.

Fatal Lemierre's syndrome as a complication of chronic otitis media ...

African Journals Online (AJOL)

South African Journal of Child Health ... Background. Lemierre's syndrome is septic thrombophlebitis of the internal jugular vein, initiated by an infection of the head and neck region. This septic ... We discuss the case of a 14-year-old male with Lemierre's syndrome as a complication of chronic middle ear infection. Results.

Apert syndrome

Directory of Open Access Journals (Sweden)

Premalatha

2010-01-01

Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

Ehlers-Danlos syndrome in a Zimbabwean child.

Science.gov (United States)

Olaosebikan, A; Wolf, B

1993-01-01

An isolated case of Ehler-Danlos syndrome, Type 1, in a two year old Zimbabwean boy is described. The patient presented with failure to thrive and inability to stand. Examination revealed hyperextensibility of the joints and skin, umbilical and inguinal hernias and a perimembranous ventricular septal defect. To the best of our knowledge this is the first pediatric case described in the African literature.

Development and Implementation of an AIDS Prevention Program for African-American Women at a Child Care Center.

Science.gov (United States)

Moten-Tolson, Paula

This program was designed to provide Acquired Immune Deficiency Syndrome (AIDS) prevention education for African-American women of child bearing age at a child care center which serves low income high risk families. The primary goal was to reduce the risk of African-American women at the child care center for contracting the Human Immunodeficiency…

[Constitutional mismatch repair deficiency syndrome

NARCIS (Netherlands)

Jongmans, M.C.J.; Gidding, C.E.M.; Loeffen, J.; Wesseling, P.; Mensenkamp, A.; Hoogerbrugge, N.

2015-01-01

BACKGROUND: Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. CASE DESCRIPTION: An 8-year-old

Spine malformation complex in 3 diverse syndromic entities

Science.gov (United States)

Kaissi, Ali Al; van Egmond-Fröhlich, Andreas; Ryabykh, Sergey; Ochirov, Polina; Kenis, Vladimir; Hofstaetter, Jochen G.; Grill, Franz; Ganger, Rudolf; Kircher, Susanne Gerit

2016-01-01

Abstract Rationale: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. Patients concerns: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes. Diagnoses: We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A). Interventions: Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively. Outcomes: The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex. Lesons: Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and (c) the diagnosis. PMID:27977582

Alagille syndrome case report: implications for forensic pathology and anthropology.

Science.gov (United States)

Petaros, Anja; Miletic, Damir; Stifter, Sanja; Slaus, Mario; Stemberga, Valter

2015-05-01

This case report offers a multidisciplinary interpretation of the violent death of a 4-year-old girl suffering from Alagille syndrome who died after a low-height fall that resulted in temporal bone fracture and a large epidural hematoma. The article evidences the macroscopical and microscopical characteristics of the syndrome, focusing especially on the skeletal findings that emerged during autopsy. In the case report, distinction is made between a possible accidental or non-accidental nature of the injuries and the characteristics of the injury have been interpreted in the light of the existing data on Alagille syndrome. In conclusion, the death was documented as accidental since abnormalities in the skeletal system evidenced during autopsy have predisposed the death of the child albeit through a very mild head trauma. The case report evidences the importance of studying features of skull macro- and microstructure in patients with Alagille syndrome, which have been, until now, underreported in literature and which might contribute to fracture vulnerability in these patients. Although rare, Alagille syndrome is a condition that should be known to forensic medicine practitioners and whose features and peculiarities must be taken into consideration in pediatric autopsy and suspected child abuse cases.

Hopkins syndrome and phantom hernia: a rare association.

Science.gov (United States)

Elizabeth, K E; Guruprasad, C S; Sindhu, T G

2011-06-01

Acute flaccid paralysis (AFP), other than paralytic poliomyelitis, are usually due to demyelination like Guillian Barre syndrome (GBS), transverse myelitis and traumatic neuritis. Poliomyelitis like illness, Hopkins syndrome or Post Asthmatic Amotrophy, associated with bronchial asthma and hyperIgEemia has been reported in literature. We present a two and a half year old child who developed AFP with phantom hernia following an episode of bronchial asthma.

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.

[Hair-thread tourniquet syndrome].

Science.gov (United States)

Claudet, I; Pasian, N; Maréchal, C; Salanne, S; Debuisson, C; Grouteau, E

2010-05-01

Describe the epidemiology of tourniquet syndromes and a cohort of such children admitted to the pediatric emergency department (PED), analyze the family's social situation to detect neglect behaviors, and analyze subsequent hospital admissions. From 1st January 2003 to 31st May 2009 in the PED, all patients admitted for tourniquet syndrome were included in the study. The data collected were day and time of admission, age, sex, length of stay, medical coverage, type and location of the constrictive agent, therapeutic management, progression, and complications. PED social workers in relation with child protective services (CPS) recovered information on the family's social situation. During the study period, 57 children were registered. The mean number of admissions per year was 8 (range: 2-15). The mean age was 5.5+/-4 months. The toe was the most frequent location (95%). The penis was injured in 2 cases and labia majora in 1 case. The constrictive agent was often a hair (95%). One case of abuse was detected. The analysis of family social situations showed that 53% had no or incomplete medical coverage, 67% were already followed by CPS with extreme poverty or lived in dilapidated housing. Insufficient hygiene or neglect was found in 67% of the families with incomplete or no social coverage. The analysis of 2003-2007 period for later admissions identified that 15 accidents in the home occurred in 12 children. Among these families, 58% were already known by CPS for neglect behavior. Although most tourniquet syndromes seem accidental, this entity is often associated with a lack of hygiene. Several and distant locations (e.g., toes and genitals), multiple and/or separated knots, constrictive agents inconsistent with a safe environment for the child, and penile location in an infant require meticulous investigation because of a higher incidence of child neglect. Copyright 2010 Elsevier Masson SAS. All rights reserved.

Forensic and family psychiatry in abuse dwarfism: Munchausen's syndrome by proxy, atonement, and addiction to abuse.

Science.gov (United States)

Money, J; Annecillo, C; Hutchison, J W

1985-01-01

The syndrome of abuse dwarfism is characterized by gross impairment of statural and intellectual growth and social maturation while the abused child remains in the domicile of abuse. The parents collude as child abusers, and are medical impostors regarding the symptoms of abuse. The syndrome as a whole is appropriately named Munchausen's syndrome by proxy. Though the mother typically initiates abuse, she cannot give a rational explanation for doing so. In her own history there is a sin that is expiated or atoned for symbolically by the sacrifice of the child--explainable in terms of the theory of opponent-process learning. In the two cases presented, the sin was the mother's own birth out of wedlock, in one case as a sequel to incest. The child's addiction to abuse is a challenge to the program of rehabilitation. With respect to parents at risk, the data of this paper are relevant to the prevention of a predisposition toward, or the actual implementation of child abuse, though a program of prevention needs still to be formulated. The sexological relevance of this paper is that the data demonstrate that the effects of sexual abuse may be transmitted to the next generation and manifested as child abuse which is not necessarily sexual in content.

Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

Science.gov (United States)

Raaijmakers, R; Noordam, C; Noonan, J A; Croonen, E A; van der Burgt, C J A M; Draaisma, J M T

2008-12-01

Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis deviation, abnormal R/S ratio over the left precordium, and an abnormal Q wave. The objective of this study was to determine if these ECG characteristics are an independent feature of the Noonan syndrome or if they are related to the congenital heart defect. A cohort study was performed with 118 patients from two university hospitals in the United States and in The Netherlands. All patients were diagnosed with definite Noonan syndrome and had had an ECG and echocardiography. Sixty-nine patients (58%) had characteristic abnormalities of the ECG. In the patient group without a cardiac defect (n = 21), ten patients had a characteristic ECG abnormality. There was no statistical relationship between the presence of a characteristic ECG abnormality and the presence of a cardiac defect (p = 0.33). Patients with hypertrophic cardiomyopathy had more ECG abnormalities in total (p = 0.05), without correlation with a specific ECG abnormality. We conclude that the ECG features in patients with Noonan syndrome are characteristic for the syndrome and are not related to a specific cardiac defect. An ECG is very useful in the diagnosis of Noonan syndrome; every child with a Noonan phenotype should have an ECG and echocardiogram for evaluation.

BRUGADA SYNDROME-A CASE REPORT

Directory of Open Access Journals (Sweden)

Kuževska-Maneva Konstandina

2016-03-01

Full Text Available Brugada syndrome is a type of arrhythmia disorder, which is characterised by abnormal electrocardiogram (ECG findings and an increased risk of sudden cardiac death. The most frequent sign is a persistent ST elevation in the electrocardiographic leads V1-V3 with a right bundle branch block (RBBB.We present a case of 12 years old healthy child, without any complains until then. He had 2 episodes of collapse/syncope, which lasted long and spontaneously disappeared. The collapses were provoked by physical activity. On ECG we found sinus rhythm 62 bpm, RBBB (right bundle brunch block and Brugada signs in V2 and V3 channel-ST elevation ≥ 2mm. The child was sent in electrophysiological centre abroad where the electrophysiological study was performed. They did not found any accessory pathway. The atrioventricular (AV conduction was normal. Long lasting polymorphic ventricular tachycardia/fibrillation was induced with programed stimulation with 3 extrastimuli in right ventricular outflow tract. Performing one defibrillation the rhythm turned in sinus way. Then they performed ECG with translocation of electrodes V1-3 in 2nd intercostal space and the Brugada I type findings was discovered. After confirming of presence of Brugada type -1 syndrome the implantable cardioverter- defibrillator (ICD was applied on child heart.

Airway management in Escobar syndrome: A formidable challenge

Directory of Open Access Journals (Sweden)

Shaji Mathew

2013-01-01

Full Text Available Escobar syndrome is a rare autosomal recessive disorder characterized by flexion joint and digit contractures, skin webbing, cleft palate, deformity of spine and cervical spine fusion. Associated difficult airway is mainly due to micrognathia, retrognathia, webbing of neck and limitation of the mouth opening and neck extension. We report a case of a 1 year old child with Escobar syndrome posted for bilateral hamstrings to quadriceps transfer. The child had adequate mouth opening with no evidence of cervical spine fusion, yet we faced difficulty in intubation which was ultimately overcome by securing a proseal laryngeal mask airway (PLMA and then by intubating with an endotracheal tube railroaded over a paediatric fibreoptic bronchoscope passed through the lumen of a PLMA.

Benign joint hypermobility syndrome

Directory of Open Access Journals (Sweden)

Iwona Słowińska

2014-11-01

Full Text Available Benign joint hypermobility syndrome (BJHS, commonly known as loose ligament syndrome, is a non-inflammatory rheumatic condition. It is characterised by a greater than normal range of motion of the joints of the limbs and spine. The prevalence of the syndrome in preschool-age children is estimated to be between 2% and 30%, depending on ethnic background (with higher prevalence in Asian and African populations, occurring most often in families with a history of the condition and more frequently in girls. This paper presents a case report of a 12-year-old girl. A broad differential diagnostic approach to recurrent joint inflammation with joint effusion and pain made it possible to establish a diagnosis of benign joint hypermobility syndrome. The child met the Brighton criteria; her Beighton score was 7 out of 9. Patient education aimed at eliminating abnormal joint movement and an appropriate rehabilitation programme play key roles in the treatment of BJHS.

Caring for the caregivers: an investigation of factors related to well-being among parents caring for a child with Smith-Magenis syndrome.

Science.gov (United States)

Foster, Rebecca H; Kozachek, Stephanie; Stern, Marilyn; Elsea, Sarah H

2010-04-01

Smith-Magenis syndrome (SMS) is a complex disorder characterized by numerous challenges, including intellectual disability, speech delay, decreased pain sensitivity, sleep disturbances, hyperactivity, mood instability, and self-injury. Caregivers must readily adapt to the ever-changing needs of the child. Due to these demands, caregivers may encounter difficulties maintaining their own level of well-being. Thus, a total of 112 primary caregivers (i.e., parents) of individuals diagnosed with SMS responded to online questionnaires to assess demographic and psychosocial factors, such as perceptions of child health vulnerability, benefit finding, sleep behaviors, anxiety and depression symptomatology, and caregiver satisfaction and self-efficacy, which may be related to caregiver well-being. Results show that, among mothers, caregiver well-being was directly related to perceived child health vulnerability, caregiver satisfaction, and benefit finding, and a significant moderating effect was observed for depression/anxiety counseling after beginning the caregiver role on the relationship between anxiety symptomatology and caregiver well-being. Results further suggest that maternal caregivers who report high levels of anxiety but do not seek counseling fair the worst in terms of well-being. Among fathers, lower depression symptoms and greater benefit finding were related to higher levels of caregiver well-being. These data show that many factors play roles in influencing coping and well-being among SMS caregivers. Investigating these variables and relationships may reveal additional resources and interventions to assist primary caregivers.

Waardenburg syndrome

OpenAIRE

Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

2004-01-01

We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

Consequences of parental burnout: Its specific effect on child neglect and violence.

Science.gov (United States)

Mikolajczak, Moïra; Brianda, Maria Elena; Avalosse, Hervé; Roskam, Isabelle

2018-06-01

Parental burnout is a specific syndrome resulting from enduring exposure to chronic parenting stress. It encompasses three dimensions: an overwhelming exhaustion related to one's parental role, an emotional distancing from one's children and a sense of ineffectiveness in one's parental role. This study aims to facilitate further identification of the consequences of parental burnout for the parents themselves, their spouses and their child(ren). In a sample of 1551 parents, we examined the relationship between parental burnout and seven possible consequences: escapism and suicidal thoughts, addictions, sleep disorders, marital conflicts, a partner estrangement mindset, and neglect and violence towards one's child(ren). We examined (1) to what extent parental and job burnout related to each of these possible consequences and (2) whether parental burnout is specifically related to neglectful and violent behaviour towards one's child(ren). The results suggest that parental burnout has a statistically similar effect to job burnout on addictions and sleep problems, a stronger effect on couples' conflicts and partner estrangement mindset and a specific effect on child-related outcomes (neglect and violence) and escape and suicidal ideation. These results emphasize the importance of accurately diagnosing this syndrome. Copyright © 2018 Elsevier Ltd. All rights reserved.

Iatrogenic Cushing's syndrome caused by intranasal steroid use.

Science.gov (United States)

Dursun, Fatma; Kirmizibekmez, Heves

2017-01-01

Cushing's syndrome (CS) is common after oral steroid use and has also been reported following topical or inhaled use, but it is extremely uncommon after intranasal administration. This is the case of a 6-year-old child who developed Cushing's syndrome after intranasal application of dexamethasone sodium phosphate for a period of 6 months. Pediatricians and other clinical practitioners should be aware that high-dose and long-term nasal steroid administration may cause iatrogenic Cushing's syndrome characterized by complications of glucocorticoid excess as well as serious and even life-threatening complications of adrenal insufficiency.

Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

OpenAIRE

Tahir M. Malla; Arshad A. Pandith; Fayaz A. Dar; Mahrukh H. Zargar

2016-01-01

There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister) chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conve...

Face Processing and Facial Emotion Recognition in Adults with Down Syndrome

Science.gov (United States)

Barisnikov, Koviljka; Hippolyte, Loyse; Van der Linden, Martial

2008-01-01

Face processing and facial expression recognition was investigated in 17 adults with Down syndrome, and results were compared with those of a child control group matched for receptive vocabulary. On the tasks involving faces without emotional content, the adults with Down syndrome performed significantly worse than did the controls. However, their…

Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

Science.gov (United States)

Vurallı, Doğuş; Gönç, Nazlı; Vidaud, Dominique; Özön, Alev; Alikaşifoğlu, Ayfer; Kandemir, Nurgün

2016-03-05

Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in NFNS cases. The literature includes only one case report of a NFNS patient having GHD and that report primarily focuses on the dermatological lesions that accompany the syndrome and not on growth hormone (GH) treatment. Here, we present a 13-year-old girl who had clinical features of NFNS with a mutation in the NF1 gene. The case is the first NFNS patient reported in the literature who was diagnosed to have GHD and who received GH treatment until reaching final height. The findings in this patient show that short stature is a feature of NFNS and can be caused by GHD. Patients with NFNS who show poor growth should be evaluated for GHD.

Type V Pouch Colon, Prune Belly Syndrome, and Congenital Anterior Urethrocutaneous Fistula.

Science.gov (United States)

Raj, Prince; Birua, Hirendra

2017-01-01

Congenital pouch colon (CPC) or short colon syndrome is a rare type of anorectal malformation(ARM). Type V is the rarest form of CPC. We present a 1-day-old male child with type V CPC with prune belly syndrome and congenital anterior urethrocutaneous fistula (CAUF).

Gorlin-Goltz syndrome in a child: case report and clinical review.

Science.gov (United States)

Snoeckx, A; Vanhoenacker, F M; Verhaert, K; Chappelle, K; Parizel, P M

2008-01-01

Gorlin-Goltz syndrome is a rare autosomal dominant disorder that involves multiple organ systems, including the skin, skeleton and jaws. We report the case of a mild mentally retarded 7-year-old boy who was referred with a swelling of his left mandible. Imaging studies showed a unilocular well-defined lytic mandibular lesion, calcifications of the falx, bifid ribs and fusion anomalies of the ribs. The mandibular lesion was treated with surgical decompression and proved to represent a keratocyst on histological examination. Further clinical examination revealed cutaneous lesions, Sprengel deformity, pectus excavatum and facial dysmorphism. Based on the combination of imaging and clinical findings the diagnosis of Gorlin-Goltz syndrome was made. This was confirmed by genetic tests. During three-year follow-up the boy presented with recurrent and multiple odontogenic keratocysts. The occurrence of multiple and recurrent keratocysts at young age, should alert the radiologist to the potential diagnosis of an underlying Gorlin-Goltz syndrome. This paper reviews the imaging findings in Gorlin-Goltz syndrome, with emphasis on maxillofacial imaging.

Seckel syndrome: A rare case report

Directory of Open Access Journals (Sweden)

Rinky Sisodia

2014-01-01

Full Text Available Seckel syndrome (SS is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, gastrointestinal, and central nervous systems. Usually such patients have poor psychomotor development. This case report presents an 8-year-old child with SS born to parents, exposed in Bhopal gas disaster.

A Severe Case of Pigmentary Glaucoma in a Child With a Family History of Pigment Dispersion Syndrome.

Science.gov (United States)

Aragno, Vittoria; Zeboulon, Pierre; Baudouin, Christophe; Labbé, Antoine

2016-08-01

To report a case of severe pigmentary glaucoma (PG) in a 13-year-old boy of a family affected by pigment dispersion syndrome (PDS). A 13-year-old child was referred to our hospital for severe bilateral glaucoma. A complete ophthalmologic evaluation including refraction, intraocular pressure, central corneal thickness, slit-lamp biomicroscopy, gonioscopy, fundus examination, and ultrasound biomicroscopy was performed. Family members were also examined and a family pedigree was obtained. Ophthalmologic examination revealed a severe bilateral PG with Krukenberg spindle and a widely open heavily pigmented iridocorneal angle. Ultrasound biomicroscopy showed a deep anterior chamber with pronounced iris concavity in both eyes. Within his family, his 15-year-old sister and 7-year-old brother were both affected by PDS diagnosed on gonioscopy findings. We report for the first time a severe case of pediatric PG with a family history of PDS. This case demonstrates that accurate screening is necessary in cases of familial PDS and PG, even in the pediatric population.

PFAPA (Periodic fever, aphtous stomatitis, pharingitis, cervical adenitis or Marshall’s syndrome in children

Directory of Open Access Journals (Sweden)

N N Kuzmina

2005-01-01

Full Text Available PFAPA (periodic fever, aphtous stomatitis, pharingitis, cervical adenitis or Marshall’s syndrome is one of the rare periodic fever conditions appearing in children. Its cause is unknown. This syndrome may continue for several years. During interictal period the child is quite well, grows and develops normally. The disease should be differentiated from Behcet’s disease, cyclic neutropenia, familial Mediterranean fever, familial Ireland fever, hyperimmunoglobulinemia D syndrome, systemic juvenile idiopathic arthritis, chronic tonsillitis, some infectious diseases. Many drugs are used for the treatment of PFAPA syndrome: antibiotics, non-steroidal anti-inflammatory drugs, chloroquin, antiviral drugs, glucocorticoids, cimetidin. Tonsillectomy is used quite often. Analysis of the literature data shows that best results may be achieved with tonsillectomy (sometimes in combination with ade- notomy. PFAPA in a child of 2 years age diagnosed for the first time in Russian pediatric rheumatology is described.

Screening for Asperger Syndrome in School-Age Children: Issues and Instruments

Science.gov (United States)

Reilly, Colin; Campbell, Audrey; Keran, Patricia

2009-01-01

Many children with Asperger syndrome are not identified prior to school entry, and difficulties associated with the condition may only become evident when a child enters school. Failure to identify children with the syndrome may lead to increased risk for psychopathology, and lack of understanding of the reasons for social and communicative…

Raising a child with down's syndrome: perspectives from South ...

African Journals Online (AJOL)

caregivers' initial emotions toward the child rather than the situation were positive and unchanged by the subsequent challenges in caring ... understanding of their condition or disability.5 This in- ..... Masters in Education University of Kwazu-.

Clinical correlates of parenting stress in children with Tourette syndrome and in typically developing children.

Science.gov (United States)

Stewart, Stephanie B; Greene, Deanna J; Lessov-Schlaggar, Christina N; Church, Jessica A; Schlaggar, Bradley L

2015-05-01

To determine the impact of tic severity in children with Tourette syndrome on parenting stress and the impact of comorbid attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) symptomatology on parenting stress in both children with Tourette syndrome and typically developing children. Children with diagnosed Tourette syndrome (n=74) and tic-free typically developing control subjects (n=48) were enrolled in a cross-sectional study. Parenting stress was greater in the group with Tourette syndrome than the typically developing group. Increased levels of parenting stress were related to increased ADHD symptomatology in both children with Tourette syndrome and typically developing children. Symptomatology of OCD was correlated with parenting stress in Tourette syndrome. Parenting stress was independent of tic severity in patients with Tourette syndrome. For parents of children with Tourette syndrome, parenting stress appears to be related to the child's ADHD and OCD comorbidity and not to the severity of the child's tic. Subthreshold ADHD symptomatology also appears to be related to parenting stress in parents of typically developing children. These findings demonstrate that ADHD symptomatology impacts parental stress both in children with and without a chronic tic disorder. Copyright © 2015 Elsevier Inc. All rights reserved.

Influences on Maternal Responsivity in Mothers of Children with Fragile X Syndrome

Science.gov (United States)

Sterling, Audra M.; Warren, Steven F.; Brady, Nancy; Fleming, Kandace

2013-01-01

This study investigated the influence of maternal and child variables on the maternal responsivity of 55 mothers with young children with fragile X syndrome. Data included video observations of mother-child interactions in four different contexts, standardized assessments with the children, and standardized questionnaires for the mothers. The…

Effect of tiger nut-derived products in gluten-free batter and bread.

Science.gov (United States)

Aguilar, Núria; Albanell, Elena; Miñarro, Begoña; Guamis, Buenaventura; Capellas, Marta

2015-07-01

Tiger nut is a tuber used to produce tiger nut milk that yields a high quantity of solid waste, which can be dried and used as fiber source. The objective of this paper was to evaluate the quality of gluten-free bread formulated with different tiger nut-derived products in order to substitute soya flour (which is an allergen ingredient) and, at the same time, increase the use of tiger nut-derived products. Four gluten-free formulations based on corn starch and containing tiger nut milk, tiger nut milk by-product, tiger nut flour, or soya flour (as reference formulation) were studied. Tiger nut milk increased G' of gluten-free batter and rendered breads with the softest crumb (502.46 g ± 102.05), the highest loaf-specific volume (3.35 cm(3)/g ± 0.25), and it was mostly preferred by consumers (61.02%). Breads elaborated with tiger nut flour had similar characteristics than soya flour breads (except in color and crumb structure). The addition of tiger nut milk by-product resulted in a hard (1047.64 g ± 145.74) and dark (L(*)  = 70.02 ± 3.38) crumb bread, which was the least preferred by consumers. Results showed that tiger nut is a promising ingredient to formulate gluten-free baked products. © The Author(s) 2014.

Alex in the Middle: Inclusion of a Child with Severe Disabilities and Complex Health Needs.

Science.gov (United States)

Bruns, Deborah A.

This case study describes the 2-year process of moving a young child with severe disabilities and complex medical needs from a special school setting to a special class in a regular education setting. The child had Marshall-Smith Syndrome, characterized by respiratory, pulmonary, and skeletal abnormalities, and developmental delays due to the…

Child-mother and child-father attachment security: links to internalizing adjustment among children with learning disabilities.

Science.gov (United States)

Al-Yagon, Michal

2014-02-01

The study examined the unique role of children's attachment with the father and with the mother, in explaining differences in internalizing features (i.e., loneliness, sense of coherence, hope and effort, and internalizing behavior syndrome) among 107 children with learning disabilities (LD) versus 98 children with typical development ages 8-12. Preliminary analyses yielded significant group differences on most measures. SEM analysis indicated high fit between the theoretical model and empirical findings, and different patterns of relations among the model's components for the two populations. As hypothesized, child-father and child-mother attachment contributed differently to children's internalizing features for the two subgroups. Discussion focused on understanding unique and complementary roles of attachment relations with fathers versus mothers among children with and without LD.

Attributions of blame to battered women when they are perceived as feminists or as "difficult to deal with".

Science.gov (United States)

Vidal-Fernández, Ana; Megías, Jesús L

2014-01-01

This study aimed to analyze the influence of victim-related and observer-related factors in victim blaming of battered women. Two hundred and forty six college students participated. They were asked to read a scenario describing a hypothetical case of physical violence perpetrated by a man against his partner. Depending on the experimental condition, the victim was described either as a feminist and/or as exhibiting difficulties in her relationship with others or not. A hierarchical regression analysis was performed with victim blaming as dependent variable. Participants' hostile sexism positively predicted victim blaming when the victim was described as a feminist and as a "difficult to deal with" woman (p feminist woman (p < .001). These results underscore the importance of victim-related and observer-related factors, and of their interaction, in blaming the victim of gender-based violence.

PREVENTION FETAL ALCOHOL SYNDROME IN RUSSIA

Directory of Open Access Journals (Sweden)

L. V. Skitnevskaya

2013-01-01

Full Text Available The article is devoted to the influence of alcohol problems in women of childbearing age during pregnancy on the unborn child. The concept of a fetal alcohol syndrome (FAS. We describe the stages of the research project "Prevention of fetal FAS in Russia."

Call for change in prenatal counseling for Down syndrome.

Science.gov (United States)

McCabe, Linda L; McCabe, Edward R B

2012-03-01

The American Journal of Medical Genetics Part A is to be congratulated for taking a leadership role by publishing a number of papers challenging the status quo of prenatal counseling for Down syndrome and of care for children and adults with Down syndrome. Parents want to know about the future abilities and potential of their fetus with Down syndrome, not simply negative medical information that may be outdated. Those providing counseling and those providing medical care could benefit from contact with individuals with Down syndrome outside the medical context. It is imperative that each person with Down syndrome be viewed as a unique individual with particular talents. Medical care providers should work with parents to help the child or adult with Down syndrome reach his/her goals. Copyright © 2012 Wiley Periodicals, Inc.

Web Untuk Deteksi Dini Tingkat Retardasi Down Syndrome Pada Anak

OpenAIRE

Leonita, Christine; Sevani, Nina

2015-01-01

Down Syndrome is a condition of physical and mental development's retardation in children that caused by abnormalities in the development of the chromosome. However, behind the special needs held by children with Down syndrome, they have a chance to live like any other normal child.This study aims to create a web-base application that can assist parents to make early detection of the retardation level of Down Syndrome in children, as well as provide information about how to deal with Down Syn...

Kabuki Syndrome: a case report with severe ocular abnormalities

Directory of Open Access Journals (Sweden)

Flavio Mac Cord Medina

2013-10-01

Full Text Available Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the "Pentad of Niikawa": dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency. Patients present characteristic external ocular features, nonetheless they may also present significant ocular abnormalities. We report a case of a brazilian child diagnosed with Kabuki syndrome, addressing the clinical features observed, with emphasis on the ocular manifestations. This case highlights the existence of this syndrome and all of its complexity. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of Kabuki syndrome patients.

Staphylococcal scalded skin syndrome in a 4-year-old child: a case report.

Science.gov (United States)

Haasnoot, P J; De Vries, A

2018-01-29

Staphylococcal scalded skin syndrome is an exfoliating skin disease which primarily affects children. Differential diagnosis includes toxic epidermal necrolysis, staphylococcal scalded skin syndrome, epidermolysis bullosa, and Stevens-Johnson syndrome. Staphylococcal scalded skin syndrome primarily affects children and can cause serious morbidity. In this case report we highlight the case of a 4-year-old Caucasian boy. Diagnostic and therapeutic challenges are discussed. Differential diagnoses are considered and therapy is described and discussed. The latest treatment options are used and described. Successful results are achieved in this case due to timely and correct management. Some therapeutic options are widely used without thorough research bases. This case report highlights staphylococcal scalded skin syndrome and its treatment, and future challenges. Further research is warranted and this case report aims to further research in exfoliating skin disorders.

Raising a child with down's syndrome: perspectives from South ...

African Journals Online (AJOL)

chromosomal abnormalities rather than attribution of the syndrome to a fault of their own. Despite the ..... children diagnosed with Attention Deficit/Hyperactivity. Disorder. Masters in Education University of Kwazu- ... Social Policy Research Unit.

Effects of a child with a craniofacial anomaly on stability of the parental relationship.

Science.gov (United States)

St John, Dane; Pai, Lori; Belfer, Myron L; Mulliken, John B

2003-09-01

The purpose of this study was to determine rates of divorce in parents of children with various types of craniofacial anomalies and to analyze possible confounding factors. A 29-question survey was sent to parents of all children evaluated in the Craniofacial Centre between 1992 and 1997. Parents were questioned regarding pre- and postnatal marital stability, whether the child's facial anomaly contributed to divorce, and involvement in the child's welfare. Using deformational posterior plagiocephaly as a control group, rates of divorce vs. non-divorce were compared for craniofacial anomalies, categorized as asymmetric (hemifacial microsomia, unilateral coronal synostosis, cleft lip, cleft lip/palate) or symmetric (syndromic-craniosynostosis, orbital hypertelorism, Treacher Collins syndrome). Major anomalies (hemifacial microsomia, craniosynostosis, orbital hypertelorism, Treacher Collins syndrome) were also compared to minor anomalies (cleft lip, cleft lip/palate). Surveys were sent to both parents in 412 families; 403 surveys were returned; and the results were evaluated in 275 families (67%). Frequency analysis demonstrated an overall divorce rate of 6.8% and 4.9% separation. Anomalies associated with the highest rate of divorce were hemifacial microsomia (24.0%), syndromic craniosynostosis (12.2%), and cleft lip/palate (6.8%). 79% of non-divorced couples reported a strong prenatal relationship, whereas 59% of divorced couples reported a problematic relationship. Following birth of the affected child, 47% of non-divorced couples responded that the bonds became stronger and 41% of divorced couples thought the relationship worsened. Two-sided Fisher exact test comparing control vs. all other anomalies showed significance (p=.030) for rates of divorce. Separation of anomalies into asymmetric vs. symmetric and major vs. minor categories demonstrated no significant difference in divorce rate (p>.05). The mother was more likely to become a child's primary caregiver

Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report

Science.gov (United States)

Acharya, Sonu; Panda, Swagatika; Sahoo, Sujit Ranjan; Ray, Prayas

2013-01-01

ABSTRACT Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212. PMID:25206225

[The emergence of expressive communication in the child with Down syndrome].

Science.gov (United States)

Andrade, Rosangela Viana; Limongi, Suelly Cecília Olivan

2007-01-01

expressive communication in the child with Down syndrome (DS). this study had as a purpose the qualitative and quantitative analyses of the different forms of communication in children with DS; the emergence of oral expression and its relationship with the use of gestures; the development of gestures and their qualification; the effectiveness of the dialectic-didactic method, based on the clinical method proposed by Piaget, as a form of speech-language intervention. participants of this study were eight children with DS (ages between 33 and 52 months at the beginning of the research) - four composing the research group (RG) and four composing the control group one (CG1); and four children with normal development ND (ages between 14 and 16 months at the beginning of the research) - control group number two (CG2). All children presented cognitive development classified between the final sensory motor stage and the beginning of the pre-operational stage, and were assessed three times during a period of 12 months: initial, after six months and after twelve months. All assessments were recorded and transcribed. Toys, appropriate to the cognitive stage of the children, were used as materials during the assessments. The therapeutic process, exclusively for the RG, consisted of 40 therapy sessions, using similar materials to those used at during the assessments. children in the RG developed better than children in CG1. Children who expressed themselves better were those who presented a better cognitive development. it was possible to confirm the effectiveness of the dialectic-didactic method as a therapy method, shown through the language development of the RG when compared to GC1.

Superior sagittal sinus thrombosis: a rare complication of nephrotic syndrome.

Directory of Open Access Journals (Sweden)

Tullu M

1999-10-01

Full Text Available A two and half year-old-male child, known case of steroid responsive nephrotic syndrome presented with fever and vomiting of acute onset. He was diagnosed to have superior sagittal sinus thrombosis on a contrast computerised tomographic scan of brain. Recovery was complete without anticoagulant therapy. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome.

Labyrinthine dehiscence in a child

International Nuclear Information System (INIS)

Paladin, Angelisa M.; Phillips, Grace S.; Raske, Molly E.; Sie, Kathleen C.Y.

2008-01-01

A 4-year-old boy presented with moderate to profound mixed hearing loss in the right ear and moderate to severe mixed hearing loss in the left ear, prompting a temporal bone CT scan. Images revealed partial dehiscence of the right posterior semicircular canal. Semicircular canal dehiscence and its associated clinical syndrome have been described in adults. We present this case as a unique finding in a child and discuss the possible clinical and research implications. (orig.)

Biventricular Hypertrophic Cardiomyopathy in a Child with LEOPARD Syndrome: a Case Report

Directory of Open Access Journals (Sweden)

Blesneac Cristina

2017-12-01

Full Text Available Background: LEOPARD syndrome is a complex dysmorphogenetic disorder of inconstant penetrance and various morphologic expressions. The syndrome is an autosomal dominant disease that features multiple lentigines, electrocardiographic changes, eye hypertelorism, pulmonary valve stenosis or hypertrophic cardiomyopathy, genital malformations, and a delayed constitutional growth hearing loss, which can be associated with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy. No epidemiologic data are available on the real incidence of LEOPARD syndrome; however, this seems to be a rare disease, being often underdiagnosed, as many of its features are mild.

Family violence in Addis Ababa: Challenges of reconciling culture ...

African Journals Online (AJOL)

Family violence includes physical, psychological and sexual violations such as pinching, beating, hitting, scolding, yelling and coerced sex. Wife beating and child corporal punishment are major family/domestic violence in Ethiopia. This study focused on wife beating (battering). It has attempted to find out the main causes ...

Griscelli syndrome

Directory of Open Access Journals (Sweden)

Kumar T

2006-01-01

Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy

Directory of Open Access Journals (Sweden)

R Rajyalakshmi

2016-01-01

Full Text Available Griscelli syndrome (GS is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, RAB27A (GS2, and MLPH (GS3 genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Hair shaft examination of the child confirmed the diagnosis.

An introduction to parental alienation syndrome.