WorldWideScience

Sample records for battered child syndrome

  1. The battered child syndrome

    International Nuclear Information System (INIS)

    Sorantin, E.; Lindbichler, F.

    2002-01-01

    The recognition of a battered child represents a challenge for all groups of adults dealing with children. Radiology plays a special role in this setting. By detection typical injuries, imaging is able to confirm the suspicion of a battered child. Recognition of those injuries on films, taken for other reasons, gives the caretaker an important hint, thus maybe preventing a fatal outcome for the child. One of the most important injury types is represented by the so called ''shakin baby syndrome''. The infant is held by the thorax and shaken. Thus causing a repetitive acceleration-deceleration trauma, which leads to the typical paravertebral rib fractures, intracranial bleeding and eye injuries. After shaking the child is thrown away, with subsequent injuries. The aim of this article is the presentation of an overview regarding the radiology of the battered child. Typical examples will be shown. (orig.) [de

  2. ''Battered child'' syndrome

    International Nuclear Information System (INIS)

    Elsner, K.; Merk, J.; Sokiranski, R.

    1997-01-01

    Synonyms for the 'battered child' syndrome (BCS) are terms describing the physical and body aspects of the process, such as 'child abuse', or 'non-accidental injury'. These are to be distinguished from the psychic aspects and abuse, emotional and bodily neglect, and sexual abuse. Most cases are one or another combination of these aspects. Radiology is the essential method for giving proof of such abuses, identifying the signs of maltreatment in a medical record, or for disproving suspected abuse. (orig./AJ) [de

  3. ``Battered child`` syndrome; Das ``Battered-Child``-Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Elsner, K.; Merk, J.; Sokiranski, R. [Ulm Univ. (Germany). Abt. Diagnostische Radiologie

    1997-10-01

    Synonyms for the `battered child` syndrome (BCS) are terms describing the physical and body aspects of the process, such as `child abuse`, or `non-accidental injury`. These are to be distinguished from the psychic aspects and abuse, emotional and bodily neglect, and sexual abuse. Most cases are one or another combination of these aspects. Radiology is the essential method for giving proof of such abuses, identifying the signs of maltreatment in a medical record, or for disproving suspected abuse. (orig./AJ) [Deutsch] Als Synonym fuer das `Battered-Child`-Syndrom (BCS) stehen die Begriffe der koerperlichen-/physikalischen-Kindesmisshandlung, im angelsaechsischen Sprachraum die Begriffe `Child Abuse` und `Nonaccidental Injury`. Vom Syndrom abzugrenzen sind die seelische Misshandlung, die seelische und koerperliche Vernachlaessigung, und der sexuelle Missbrauch. Kombinationsformen sind nicht selten. Bei der Diagnostik des Syndroms spielt die Radiologie eine entscheidende Rolle. So hilft der Einsatz adaequater Untersuchungsmethoden, den Tatbestand der Misshandlung zu identifizieren und zu dokumentieren, aber auch einen Verdacht zu widerlegen. (orig./AJ)

  4. The battered child syndrome; Die nicht unfallbedingte Verletzung (battered child)

    Energy Technology Data Exchange (ETDEWEB)

    Sorantin, E.; Lindbichler, F. [Universitaetsklinik fuer Radiologie, Graz (Austria). Abt. fuer Kinderradiologie

    2002-03-01

    The recognition of a battered child represents a challenge for all groups of adults dealing with children. Radiology plays a special role in this setting. By detection typical injuries, imaging is able to confirm the suspicion of a battered child. Recognition of those injuries on films, taken for other reasons, gives the caretaker an important hint, thus maybe preventing a fatal outcome for the child. One of the most important injury types is represented by the so called ''shakin baby syndrome''. The infant is held by the thorax and shaken. Thus causing a repetitive acceleration-deceleration trauma, which leads to the typical paravertebral rib fractures, intracranial bleeding and eye injuries. After shaking the child is thrown away, with subsequent injuries. The aim of this article is the presentation of an overview regarding the radiology of the battered child. Typical examples will be shown. (orig.) [German] Die Aufdeckung einer Kindesmisshandlung stellt eine grosse Herausforderung fuer alle in der Kinderbetreuung taetigen Berufsgruppen dar. Der Radiologie kommt eine besondere Rolle zu, da sie einerseits durch die Erkennung typischer Verletzungsmuster einen Verdacht bestaetigen, als auch bei ''Zufallsbefunden'' die moeglicherweise fatalen Folgen fuer die betroffenen Kinder verhindern kann. Der typische Verletzungsmechanismus im Rahmen einer Kindesmisshandlung stellt das sog. ''shakin baby syndrome'' dar. Dabei wird der Thorax mit beiden Haenden umfasst und das Kind geschuettelt. Durch dieses repetitive Akzelerations-Dezelerationstrauma entstehen typische Verletzungen mit paravertebralen Rippenfrakturen, ZNS- sowie Retinablutungen. Anschliessend wird das Kind weggeworfen mit entsprechend weiteren Verletzungen. Ziel dieses Artikels ist es, einen Ueberblick ueber die Radiologie der wichtigsten Verletzungen und deren Abklaerung im Rahmen einer Kindesmisshandlung zu geben sowie die Demonstration der Befunde

  5. The 'Battered-Child-Syndrome': The view of the pediatric radiologist

    International Nuclear Information System (INIS)

    Greinacher, I.; Troeger, J.

    1982-01-01

    The diagnosis of the Battered-Child-Syndrome (BSC) is made by the pediatrician and the radiologist. The recognition of this entity by the radiologist is possible because of the high frequency of the typical skeletal lesions. This skeletal changes are illustrated by X-ray pictures and bone scans. Not only skeletal trauma can be discovered but also visceral injuries may be combined and diagnosed in the BCS. For the detection of all changes in the BCS nowadays all possible imaging procedures should be used. Some forensic problems in this field are added. (orig.)

  6. Frequency and characteristics of battered child syndrome in patients on a paediatric burns unit: A clinical case review

    Directory of Open Access Journals (Sweden)

    M. Gil-Vargas

    2017-07-01

    Conclusions: Having knowledge of and being able to identify battered child syndrome may prevent fatal injuries. It is important to equip healthcare staff on first-contact care units with the knowledge to establish a presumptive diagnosis of child/adolescent abuse. Only through proper investigation of social events may just solutions be sought and implemented.

  7. Elektronisk patientjournal kan bidrage til at rejse mistanke om battered child-syndrom

    DEFF Research Database (Denmark)

    Christensen, Mikkel Holm

    2013-01-01

    Child abuse is a very serious offence and is often underdiagnosed. This case report shows how the use of electronic medical records from different hospitals aided in diagnosing a case of battered child in a 16-month-old girl with an unusual acromion fracture. This illustrates the need for thorough...

  8. Battered woman syndrome: An unusual presentation of pseudodystonia

    Science.gov (United States)

    Chandra, Sadanandavalli Retnaswami; Issac, Thomas Gregor

    2014-01-01

    Pseudodystonia is the term used to define abnormal postures, which are not due to the disorders of the basal ganglia and is encountered very rarely in clinical practice and often difficult to distinguish from true dystonia syndromes. We report a rare case of a battered woman who was managed as restricted resistant dystonia with pharmacotherapy and intrathecal baclofen and referred for considering deep brain stimulation (DBS). The patient turned out to be a case of pseudodystonia due to bilateral hip dislocation. This was due to assault by a close relative and the history was masked by the patient for more than one and a half years. In a patient with late onset dystonia, who is resistant to the recommended treatment for dystonia along with atypical clinical features and electrophysiological parameters, pseudodystonia should always be considered as a possible diagnosis and evaluated for causes of the same. PMID:24966567

  9. [The battered, abused and neglected child and the Crisis Center for Children].

    Science.gov (United States)

    Dunovský, J

    1995-05-31

    The syndrome of the battered, abused and neglected child is becoming manifest also in our country with increasing frequency and severity, not only because much more attention is paid to it than ever before. Our system of child care and protection is, however, by far not yet ready to resolve this serious problem in the life of children, families and society as a whole and therefore ways and means must be sought how to face it, how to recognize it, treat it and in particular how to prevent it. One of the important means how to tackle this dangerous social phenomenon is a specialized department concerned in a comprehensive way on an interdisciplinary basis, with skilled and effective clinical work with every single abused child and its family in close association with all disciplines and institutions interested in the problem as well as by conceptual work, research, training and expert opinions etc. The crisis centre for children in Prague 4-Michle wants to serve with its experience and findings as a model workplace for building special institutions within the framework of a rational, interdisciplinary network of child care and protection in this country. The results of its two-year work and the great interest in it on the part of many localities and regions justify its efforts.

  10. 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.

  11. 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 ...

  12. Multiple growing fractures and cerebral venous anomaly after penetrating injuries: delayed diagnosis in a battered child

    International Nuclear Information System (INIS)

    Makkat, S.; Vandevenne, J.E.; Parizel, P.M.; Schepper, A.M. de

    2001-01-01

    A growing fracture usually results from a skull fracture with dural tear after blunt head trauma during infancy. We present a case of child abuse with multiple growing fractures resulting from penetrating head trauma by scissors. MR imaging confirmed the presence of growing fractures and revealed a presumably post-traumatic venous anomaly (occluded left cavernous sinus and aberrant posterior venous drainage via the internal cerebral veins). Diagnosis of the growing fractures and venous anomaly was delayed until the age of 15 years. Medical expertise should be more readily available to battered children, and MR imaging is advocated in growing skull fracture to exclude associated post-traumatic brain lesions. (orig.)

  13. Multiple growing fractures and cerebral venous anomaly after penetrating injuries: delayed diagnosis in a battered child

    Energy Technology Data Exchange (ETDEWEB)

    Makkat, S.; Vandevenne, J.E.; Parizel, P.M.; Schepper, A.M. de [Dept. of Radiology, Universitair Ziekenhuis Antwerpen, Edegem (Belgium)

    2001-05-01

    A growing fracture usually results from a skull fracture with dural tear after blunt head trauma during infancy. We present a case of child abuse with multiple growing fractures resulting from penetrating head trauma by scissors. MR imaging confirmed the presence of growing fractures and revealed a presumably post-traumatic venous anomaly (occluded left cavernous sinus and aberrant posterior venous drainage via the internal cerebral veins). Diagnosis of the growing fractures and venous anomaly was delayed until the age of 15 years. Medical expertise should be more readily available to battered children, and MR imaging is advocated in growing skull fracture to exclude associated post-traumatic brain lesions. (orig.)

  14. Interpersonal relationships and child-rearing practices in 214 parents of battered children.

    Science.gov (United States)

    Smith, S M; Hanson, R

    1975-12-01

    The self-reported child-rearing practices of 214 parents of battered babies were characterized in a few but not all respects by demanding behaviour which exceeded that to be expected in relation to their social class and age. Inconsistency in child management was noted in the comparison between lack of demonstrativeness and emotional over-involvement, and between physical punishment and a tendency to be lax in the supervision of the child, and was reminiscent of parents of delinquents. Unhappiness and hostility in relationships with members of their families of origin, with unsupporting partners and with people in general were other important features. Generally, identified perpetrators were characterized by features significant for the sample as a whole.

  15. 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.

  16. Craniocerebral trauma in the child abuse syndrome: Radiological observations

    Energy Technology Data Exchange (ETDEWEB)

    Merten, D.F.; Osborne, D.R.S.; Radkowski, M.A.; Leonidas, J.C.

    1984-07-01

    Experience with craniocerebral trauma in 712 physically abused children is reviewed. Ninety-three (13%) had evidence of head trauma (cranial and/or intracranial). Seventy-seven of these patients had computed tomography (CT) of the head, and 47 had CT evidence of intracranial injury. Extracerebral fluid collections, predominantly convexity subdural hemorrhage, were the most common acute intracranial lesions. Concurrent intracranial and skeletal trauma (cranial and/or ectracranial) was present in 33 of the 47 patients (70%) with intracranial injury. A high incidence of skull fractures (45%) in those children with intracranial lesions suggest a significant role for impact head injuries (''battering'') in the pathogenesis of craniocerebral trauma in the child abuse syndrome. Greater emphasis on CT examination in evaluation of the abuse infant and child is recommended.

  17. Craniocerebral trauma in the child abuse syndrome: Radiological observations

    International Nuclear Information System (INIS)

    Merten, D.F.; Osborne, D.R.S.; Leonidas, J.C.

    1984-01-01

    Experience with craniocerebral trauma in 712 physically abused children is reviewed. Ninety-three (13%) had evidence of head trauma (cranial and/or intracranial). Seventy-seven of these patients had computed tomography (CT) of the head, and 47 had CT evidence of intracranial injury. Extracerebral fluid collections, predominantly convexity subdural hemorrhage, were the most common acute intracranial lesions. Concurrent intracranial and skeletal trauma (cranial and/or ectracranial) was present in 33 of the 47 patients (70%) with intracranial injury. A high incidence of skull fractures (45%) in those children with intracranial lesions suggest a significant role for impact head injuries (''battering'') in the pathogenesis of craniocerebral trauma in the child abuse syndrome. Greater emphasis on CT examination in evaluation of the abuse infant and child is recommended. (orig.)

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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)

  3. Batter, food product having a coating compromising the batter and method of making batter

    NARCIS (Netherlands)

    Lichtendonk, W.J.; Vliet, van T.; Visser, J.E.; Hamer, R.J.

    2007-01-01

    A batter is provided comprising flour, water and optionally starch, wherein the batter comprises glutenin particles having a volume surface averaged particle size smaller than 10 µm. A batter according to the invention comprises flour and optionally starch, and optionally baking powder and salt. At

  4. [Child abuse: a disturbing problem].

    Science.gov (United States)

    Martínez-Martínez, E; Reyes-Rodrguez, R

    1993-08-01

    This current information on "battered child syndrome" (BCS) was obtained during 1990 from nine institutions in Tijuana, Baja California; 549 cases of BCS were studied, of which 338 were female, 203 male, eight of indeterminate sex due to loss documentation. Child abuse was manifested in all its forms: beatings, sexual abuse, neglect, and affective indifference. The victim's and perpetrator's characters were analyzed together with other factors which had to be taken into consideration in order to detect results which were similarly described in the literature. It is of utmost importance to alert all medical staff to this terrible social problem for the complete treatment of the affected child and the family environment. Community support, and legislation to adequately cover rights of minors and their protection are imperative to elimination of the battered child syndrome.

  5. 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)

  6. 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.

  7. Mental disorders in battered women: an empirical study.

    Science.gov (United States)

    Gleason, W J

    1993-01-01

    Prevalence of mental disorders in 62 battered women receiving services from a Florida battered woman agency was identified by means of a structured interview, the Diagnostic Interview Schedule. Of the total sample of battered women, 30 were in a shelter operated by the agency and 32 were living in their own homes and receiving assistance from the agency. Resultant diagnoses met diagnostic criteria developed in the Diagnostic and Statistical Manual (3rd. ed.) of the American Psychiatric Association. The Diagnostic Interview Schedule is a 263 item structured interview used in the National Institute of Mental Health Epidemiological Catchment Area program carried out in the early 1980s. The Diagnostic Interview Schedule permits the use of 10,953 females in the epidemiological study as a comparison group of normal women. Scoring of the interviews was done by a computer diagnostic program with absolute decision rules. Extremely high prevalence was found for psychosexual dysfunction, major depression, post traumatic stress disorder, generalized anxiety disorder, and obsessive compulsive disorder. These diagnoses appear to reflect the major components of the battered woman syndrome developed by Lenore Walker and the study approximates Walker's request for improved methodology in the research into the psychology of the battered woman.

  8. 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.''…

  9. 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

  10. 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

  11. 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…

  12. 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

  13. 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.

  14. Pediatric radiological diagnostics in suspected child abuse

    International Nuclear Information System (INIS)

    Erfurt, C.; Schmidt, U.; Hahn, G.; Roesner, D.

    2009-01-01

    Advanced and specialized radiological diagnostics are essential in the case of clinical suspicion of pediatric injuries to the head, thorax, abdomen, and extremities when there is no case history or when ''battered child syndrome'' is assumed on the basis of inadequate trauma. In particular, the aim of this sophisticated diagnostic procedure is the detection of lesions of the central nervous system (CNS) in order to initiate prompt medical treatment. If diagnostic imaging shows typical findings of child abuse, accurate documented evidence of the diagnostic results is required to prevent further endangerment of the child's welfare. (orig.) [de

  15. 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.

  16. 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

  17. 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

  18. 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...

  19. 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.

  20. '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.

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. Asymmetrical Role-Taking: Comparing Battered and Non-battered Women.

    Science.gov (United States)

    Forte, James A.; And Others

    1996-01-01

    Tests Frank's model of oppressive situations and asymmetric role-taking in a survey of 66 battered women and 80 nonbattered women. Battered women's social situations were characterized by powerlessness, social isolation, and economic dependency. Develops the value of this theoretical approach with its emphasis on enhancing women's power base and…

  10. 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

  11. 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)

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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…

  19. 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…

  20. 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.

  1. 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.

  2. 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…

  3. 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.

  4. 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…

  5. 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.

  6. 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)

  7. 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.

  8. 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...

  9. 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.

  10. 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 ...

  11. 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,…

  12. 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.

  13. 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,…

  14. 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.

  15. 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.

  16. 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

  17. 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.

  18. 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.

  19. 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

  20. 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.

  1. 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.

  2. 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.

  3. 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).

  4. 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.

  5. 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.…

  6. 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…

  7. 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.

  8. 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…

  9. 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…

  10. 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.

  11. 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.

  12. Pediatric radiological diagnostics in suspected child abuse; Kinderradiologische Diagnostik bei Verdacht auf Kindesmisshandlung

    Energy Technology Data Exchange (ETDEWEB)

    Erfurt, C.; Schmidt, U. [Technische Universitaet Dresden, Institut fuer Rechtsmedizin, Medizinische Fakultaet, Dresden (Germany); Hahn, G. [Universitaetsklinikum Carl Gustav Carus, Dresden, Abteilung Kinderradiologie, Institut und Poliklinik fuer Radiologische Diagnostik, Dresden (Germany); Roesner, D. [Universitaetsklinikum Carl Gustav Carus, Dresden, Klinik und Poliklinik fuer Kinderchirurgie, Dresden (Germany)

    2009-10-15

    Advanced and specialized radiological diagnostics are essential in the case of clinical suspicion of pediatric injuries to the head, thorax, abdomen, and extremities when there is no case history or when ''battered child syndrome'' is assumed on the basis of inadequate trauma. In particular, the aim of this sophisticated diagnostic procedure is the detection of lesions of the central nervous system (CNS) in order to initiate prompt medical treatment. If diagnostic imaging shows typical findings of child abuse, accurate documented evidence of the diagnostic results is required to prevent further endangerment of the child's welfare. (orig.) [German] Klinisch diagnostizierte Verletzungen an Kopf, Thorax, Abdomen oder Extremitaeten eines Kindes bei scheinbar leerer Anamnese oder Angabe eines inadaequaten Traumas erfordern beim Verdacht auf ein Battered-Child-Syndrom eine erweiterte und spezialisierte radiologische Diagnostik. Diese soll insbesondere im Bereich des ZNS Verletzungsfolgen erfassen, um therapeutische Massnahmen einleiten zu koennen. Bei typischen, auf eine Misshandlung hinweisenden radiologischen Befunden ist eine praezise beweissichere Befunddokumentation erforderlich, um eine weitere Kindeswohlgefaehrdung zu vermeiden. (orig.)

  13. 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.

  14. 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.

  15. 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…

  16. 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.

  17. 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.

  18. 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...

  19. 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.

  20. 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

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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

  7. 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-.

  8. 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.

  9. 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.

  10. 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%.

  11. 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...

  12. 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 ...

  13. 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.)

  14. 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.

  15. 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.

  16. 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.

  17. 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.)

  18. 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

  19. 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,

  20. 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,…

  1. 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.

  2. 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)

  3. 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.

  4. 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.

  5. 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.)

  6. 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.

  7. 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.

  8. 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

  9. Fetal Alcohol Syndrome and Fetal Alcohol Effects in Child Development.

    Science.gov (United States)

    Pancratz, Diane R.

    This literature review defines Fetal Alcohol Syndrome (FAS) and Fetal Alcohol Effects (FAE) and considers their causes, diagnoses, prevalence, and educational ramifications. Effects of alcohol during each of the trimesters of pregnancy are summarized. Specific diagnostic characteristics of FAS are listed: (1) growth deficiency, (2) a…

  10. Tourette Syndrome and Associated Features and the School Aged Child.

    Science.gov (United States)

    Willis, Christopher

    Tourette Syndrome (TS) is described as a genetically based, chronic constellation of neurobehavioral symptoms and associated features involving repetitive, simple, and/or complex motor and phonic tics. Treatment generally involves neuroleptic medication. Symptoms of obsessive-compulsive disorder, attention deficit hyperactive disorder, learning…

  11. Identifying the Child with Gilles de la Tourette Syndrome.

    Science.gov (United States)

    Anderson, Donna J.

    1993-01-01

    This article presents a brief introduction to Gilles de la Tourette Syndrome (a neuropsychiatric disorder characterized by motor and vocal tics and obsessive-compulsive behaviors). It describes the nature of the disorder, treatment, and service provision (evaluation and assessment and the Individual Education Plan). (DB)

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.)

  19. 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.)

  20. 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.)

  1. 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.)

  2. 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.

  3. 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

  4. Nevoid basal cell carcinoma syndrome in a black child.

    Science.gov (United States)

    Hall, J; Johnston, K A; McPhillips, J P; Barnes, S D; Elston, D M

    1998-02-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is rare in black persons. We describe an 11-year-old black boy with NBCCS who presented with exotropia and a painful, expanding, cystic mass in the left posterior alveolar ridge. Further examination revealed odontogenic keratocysts with palmar and plantar pitting. Less than 5% of reported patients with NBCCS are black. To our knowledge, this is the first report of a black patient with NBCCS presenting with exotropia and an impacted molar displaced into the orbit by an odontogenic keratocyst.

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. Epilepsy in a child with Wolf-Hirschhorn syndrome

    Directory of Open Access Journals (Sweden)

    Radlović Nedeljko

    2011-01-01

    Full Text Available Introduction. Wolf-Hirschhorn syndrome (WHS is a rare chromosomal disorder characterized by facial dismorphy, multiple congenital anomalies, delayed psychomotor development and pharmaco-resistant epilepsy. Case Outline. We present a 5-year-old girl with severe delay in growth and development, microcephaly, mild facial dismorphy and epilepsy. The pregnancy was complicated by intrauterine growth retardation. Generalized muscle hypotonia was observed at birth. First seizures started at age of 9 months as unilateral convulsive status epilepticus (SE, sometimes with bilateral generalization. Seizures were often triggered by fever and were resistant to antiepileptic treatment. Introduction of lamotrigine and valproate therapy led to complete seizure control at the age of 33 months. Electroencephalographic (EEG finding was typical at the beginning. After transitory improvement between age four and five years, epileptiform EEG activity appeared again at the age of five years, without observed clinical seizures. Magnetic resonance imaging showed diffuse brain atrophy and delay in myelination. Using Multiplex ligation-dependent probe amplification (MLPA method, we disclosed heterozygote microdeletation of the distal part of the short arm of chromosome 4 (4p16. Conclusion. We present a clinical course of epilepsy in a patient with Wolf-Hirschhorn syndrome. The diagnosis was verified by modern molecular technique. This is the first molecular characterization of a patient with WHS performed in our country.

  10. DRESS syndrome associated with type 2 diabetes in a child

    Science.gov (United States)

    Erdem, Semiha Bahceci; Bag, Ozlem; Karkiner, Canan Sule Unsal; Korkmaz, Huseyin Anil; Can, Demet

    2016-01-01

    Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is an uncommon, life-threatening drug reaction. The basic findings are skin rash, multiorgan involvement, and eosinophilia. Most of the aromatic anticonvulsants, such as phenytoin, phenobarbital and carbamazepine can induce DRESS. Herein we report a 14-year-old patient with DRESS syndrome related to carbamazepine use. The patient presented with signs of involvement of the skin, lungs, liver, and microscopic hematuria. Carbamazepine treatment was discontinued; antihistamines and steroids were started. Hyperglycemia, commencing on the first dose of the steroid given, persisted even after the discontinuation of steroids and improvement of other signs. There were no signs of pancreatitis or type 1 diabetes clinically in laboratory tests. Her blood glucose levels were regulated at first with insulin and later with metformin. Within 1 year of follow-up, still regulated with oral antidiabetics, she has been diagnosed with type 2 diabetes. Formerly, long-term sequelae related to “drug rash with eosinophilia and systemic symptoms syndrome” such as hepatic and renal failure, type 1 diabetes mellitus, Grave's disease, autoimmune hemolytic anemia, and lupus have also been reported. However, up to date, no cases with type 2 diabetes have been reported as long-term sequelae. To our knowledge, this is the first case in the literature presenting with type 2 diabetes as long-term sequelae. PMID:26862317

  11. 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.

  12. 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.

  13. 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...

  14. 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.

  15. 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...

  16. 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.

  17. Churg-strauss syndrome without respiratory symptoms in a child

    Directory of Open Access Journals (Sweden)

    R B Basak

    2011-01-01

    Full Text Available Churg-Strauss Syndrome (CSS is rare in children. It consists of a small- and medium-sized vessel vasculitis, with skin and peripheral nerve involvement. It is characterized by eosinophilia, extravascular necrotizing granuloma, and eosinophilic infiltration of multiple organs particularly the lungs, but may also involve the gastrointestinal tract, the heart, and the kidneys. The condition is usually associated with a preceding history of asthma or allergic sinusitis. It has rarely been reported in children, where most of the cases had pre-existing asthma, allergic rhinitis, or atopic disease. We report a 10-year-old Arab girl proven to have CSS, with no history of asthma or allergic rhinitis, who presented with tender cutaneous nodules of lower extremities, foot drop, and peripheral eosinophilia, without any clinical respiratory symptoms or signs.

  18. 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

  19. 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…

  20. 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

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. [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.

  6. 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.

  7. 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

  8. 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.

  9. 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

  10. 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 ...

  11. 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)

  12. 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…

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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...

  18. 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.

  19. 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

  20. 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.

  1. 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)

  2. 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.

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

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    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

  4. Phenotype of a child with Angelman syndrome born to a woman with Prader-Willi syndrome.

    Science.gov (United States)

    Ostergaard, John R

    2015-09-01

    This report describes the phenotype, from early childhood to adolescence, of a girl with Angelman syndrome (AS) born following a maternal transmission of a germline paternal 15q11.2-q13 deletion. During early childhood, she showed a typical AS phenotype, such as jerky movements, poor sleep, high voltage electroencephalography pattern, epilepsy, and a severe developmental disability. As she grew older, indications of phenotypical traits similar to Prader-Willi syndrome (PWS) appeared, in particular hyperphagic behavior and a body fat distribution similar to that reported in PWS. She generally showed cheerful AS behavior and had the characteristic outbursts of laughter, but her attitude to other people did not reflect the usual shared enjoyment of interaction seen in children with AS. In unfamiliar surroundings, she withdrew socially, similar to children with PWS, and her insistence on the same, rigid routines was similar to behavior patterns in PWS. The dysmorphic facial features that characterize AS were blurred in adolescence. The specified features that this AS patient had in common with PWS were hardly incidental and, if verified by upcoming case reports of children born to women with a paternal 15q11.2-q13 deletion, they may show new aspects of genetic imprinting. © 2015 Wiley Periodicals, Inc.

  5. Gastric Dilatation and Abdominal Compartment Syndrome in a Child with Prader-Willi Syndrome.

    Science.gov (United States)

    Blat, Clara; Busquets, Elisenda; Gili, Teresa; Caixàs, Assumpta; Gabau, Elisabeth; Corripio, Raquel

    2017-06-07

    BACKGROUND Prader-Willi syndrome (PWS) is a genetic disorder characterized by initial muscular hypotonia and feeding difficulties, and later an insatiable appetite, hyperphagia and obesity along with mild to moderate intellectual impairment. Affected individuals' food-seeking behavior and suspected delayed gastric emptying can lead to gastric dilatation with subsequent necrosis and perforation. CASE REPORT We present the case of a 5-year-old boy diagnosed with Prader-Willi syndrome at neonatal age due to muscular hypotonia, who started growth hormone therapy at 20 months. He presented with two episodes of a rapidly progressing gastric dilatation that led to abdominal hypertension and secondary shock at the age of 2 and 5. No large amount of food was eaten before any of the episodes, and he had abdominal pain and vomiting on both occasions. On arrival at the emergency room, a nasogastric tube was placed and aspiration of food material was performed. Abdominal X-ray and CT scan revealed massive gastric dilatation. He was admitted at the Pediatric Intensive Care Unit and after a variable period of fasting, tolerated oral intake and could be discharged. CONCLUSIONS Gastric dilatation due to gastroparesis in PWS is a rare complication. However, it is a life-threatening situation and physicians should therefore maintain a high level of suspicion for gastric dilatation when patients present with warning symptoms such as abdominal pain or discomfort and vomiting.

  6. The Battered-Woman Syndrome: Contributing Factors and Remedial Interventions.

    Science.gov (United States)

    Mullen, Roseland McG; Carroll, Marguerite R.

    1983-01-01

    Discusses factors that deter counselors in responding to wife abuse. Characteristics of the abused wife are outlined. Strategies used in helping abused women are discussed, including support groups, feminist-oriented counseling, and exploring the possibility of ending the relationship. (Author/JAC)

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

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    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.

  8. 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.)

  9. 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.)

  10. 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.

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

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    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.

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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

  18. 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.

  19. 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.

  20. 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.

  1. 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.

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

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    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.

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

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    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.

  4. 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.

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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

  10. 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

  11. 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.

  12. 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.

  13. 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

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

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    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.

  15. 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...

  16. 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

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

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

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    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.

  3. Sífilis congênita simulando a síndrome da criança espancada: relato de caso Congenital syphilis mimicking battered child syndrome: case report

    OpenAIRE

    Beatriz Regina Alvares; Maria Aparecida M.S. Mezzacappa; Cláudia Braga Poterio

    2002-01-01

    As autoras descrevem os achados radiológicos dos ossos longos de um recém-nascido com diagnóstico confirmado de sífilis congênita, enfatizando o diagnóstico diferencial com a síndrome da criança espancada. É apresentada a evolução radiológica das lesões nos ossos longos, do nascimento até o quarto mês de vida. Os dados clínicos e laboratoriais do recém-nascido, as radiografias anteriores e os achados radiológicos característicos da doença de base foram essenciais para o diagnóstico desta doen...

  4. The perpetrators of medical child abuse (Munchausen Syndrome by Proxy) - A systematic review of 796 cases.

    Science.gov (United States)

    Yates, Gregory; Bass, Christopher

    2017-10-01

    Little is known about the perpetrators of medical child abuse (MCA) which is often described as "Munchausen's syndrome by proxy" or "factitious disorder imposed on another". The demographic and clinical characteristics of these abusers have yet to be described in a sufficiently large sample. We aimed to address this issue through a systematic review of case reports and series in the professional literature. A systematic search for case reports and series published since 1965 was undertaken using MEDLINE, Web of Science and EMBASE. 4100 database records were screened. A supplementary search was then conducted using GoogleScholar and reference lists of eligible studies. Our search yielded a total sample of 796 perpetrators: 309 from case reports and 487 from case series. Information extracted included demographic and clinical characteristics, in addition to methods of abuse and case outcomes. Nearly all abusers were female (97.6%) and the victim's mother (95.6%). Most were married (75.8%). Mean caretaker age at the child's presentation was 27.6 years. Perpetrators were frequently reported to be in healthcare-related professions (45.6%), to have had obstetric complications (23.5%), or to have histories of childhood maltreatment (30%). The most common psychiatric diagnoses recorded were factitious disorder imposed on self (30.9%), personality disorder (18.6%), and depression (14.2%). From the largest analysis of MCA perpetrators to date, we provide several clinical recommendations. In particular, we urge clinicians to consider mothers with a personal history of childhood maltreatment, obstetric complications, and/or factitious disorder at heightened risk for MCA. Longitudinal studies are required to establish the true prognostic value of these factors as our method may have been vulnerable to publication bias. Copyright © 2017. Published by Elsevier Ltd.

  5. 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.

  6. 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

  7. 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.

  8. 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.

  9. 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.

  10. 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

  11. 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,

  12. 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,

  13. 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.

  14. 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.

  15. 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.

  16. [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.

  17. 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.

  18. 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.

  19. 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.

  20. [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.

  1. Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report.

    Science.gov (United States)

    Goecke, C; Mellado, C; García, C; García, H

    2018-02-01

    Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur. To describe a case of NPS with short stature and hypothyroidism, an association that has not been described in the literature. An eleven-year-old boy with a height of 130 cm (-2.01 Stan dard Deviations [SD]) was referred to the Endocrine Unit at the age of 2 years due to altered thyroid tests. At that time, dysplastic nails and disproportionate short stature were detected. Radiological abnormalities initially suggested a skeletal dysplasia. A primary hypothyroidism was confirmed, without anti-thyroid antibodies and with a normal thyroid ultrasound. Levothyroxine treatment was initiated. The diagnosis of NPS was confirmed by a genetic study with a single pathogenic variant in the LMX1B gene. His father presented a similar phenotype with normal stature. His bone age was equivalent to his chronological age. Laboratory screening for short stature and a GH stimulation test were normal. We present a child with proven NPS with short stature and hypothyroi dism. We did not find publications that described this triple association. It can't be ruled out that there could be a relationship between NPS and the thyroid alterations found in this patient.

  2. [Analysis of clinical manifestations and genetic mutations in a child with Laron syndrome].

    Science.gov (United States)

    Chang, Guo-ying; Chen, Shao-ke; Gu, Xue-fan; Gong, Zhu-wen; Zhang, Qi-gang

    2013-12-01

    To analyze clinical manifestations and gene mutations in a child with severe short stature, explore its molecular mechanism and further clarify the diagnostic procedure for short stature. We observed clinical characteristics of a patient with short stature and did diagnostic examinations, assessed the function of GH-IGF-1 axis, and surveyed its family members.Genomic DNA was extracted from peripheral blood, GHR, IGFALS, STAT5b and GH1 gene were amplified by PCR for sequencing, including exons and splicing areas. The patient presented symmetrical short stature (height -8.2 SDS) and facial features, and other congenital abnormalities.It displayed non-growth hormone deficiency. The baseline value of GH was 21 µg/L, and the peak was 57.9 µg/L. The value of IGF-1 was less than 25 µg/L, and the IGFBP-3 less than 50 µg/L. And IGF-1 generation test showed no response. There was no similar patients in the family members.Sequencing of GHR in the patient revealed a homozygous point mutation (c.Ivs6+1G>A), and her father and mother had the same heterozygous mutation. The same mutation was not identified for her sister.No other candidate gene was found. As the result of combined clinical characteristics and lab examinations, as well as gene detection, the case was diagnosed with Laron syndrome and GHR gene mutation is the molecular mechanism.We should explicit the etiological diagnosis for short stature, and avoid missed diagnosis and misdiagnosis.

  3. 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, ...

  4. 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.

  5. 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.

  6. 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.

  7. 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

  8. 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.

  9. 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.

  10. Coexisting first and bilateral second branchial fistulas in a child with nonfamilial branchio-otic syndrome.

    Science.gov (United States)

    Lapeña, Jose F; Jimena, Genilou Liv M

    2013-07-01

    We describe what we believe is only the third reported case of coexisting first and bilateral second branchial fistulas associated with nonfamilial branchio-otic syndrome. The patient was a 6-year-old girl who presented with bilaterally draining anterior neck puncta, a preauricular sinus, and moderately severe bilateral hearing loss. She had no family history of branchial anomalies. Compared with branchial cysts and sinuses, branchial fistulas are rare. Even more rare are bilateral second branchial fistulas coexisting with first branchial anomalies, as only 10 cases have been previously reported in the English-language literature. Of these 10 cases, 5 were associated with either branchio-otic syndrome or branchio-oto-renal syndrome; 2 patients had familial branchio-otic syndrome, 2 had nonfamilial branchio-otic syndrome, and 1 had nonfamilial branchio-oto-renal syndrome.

  11. A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype.

    Science.gov (United States)

    Elli, Francesca M; Ghirardello, Stefano; Giavoli, Claudia; Gangi, Silvana; Dioni, Laura; Crippa, Milena; Finelli, Palma; Bergamaschi, Silvia; Mosca, Fabio; Spada, Anna; Beck-Peccoz, Paolo

    2012-11-01

    Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by diabetes insipidus (DI), insulin-dependent diabetes mellitus (DM), optic atrophy (OA) and deafness caused by mutations in WFS1 gene (4p16.1), which encodes an endoplasmic reticulum protein, called Wolframin. We describe the case of an infant who presented hypernatremia and severe hypoplasia of the left eyeball with alteration of visual evoked potentials. Persistent hypernatremia, iposmolar polyuria and high plasma osmolality suggested DI, confirmed by a normal urine concentration after vasopressin test. Treatment with vasopressin allowed a normalization of sodium levels and urine output. Brain magnetic resonance imaging showed absence of the neurohypophysis hyperintense signal, normal adenohypophysis and optic tracts hypoplasia. The concomitant presence of DI and OA, even in the absence of DM and deafness, prompted the suspicion of WS and complete genetic analysis was performed. Genomic DNA sequencing of WFS1 showed no inactivating mutations described to date, but suggested a structural mutation as markers genotyping revealed a segmental paternal heterodisomy involving the upstream regulatory region (promoter and 5'UTR). cDNA sequencing revealed the coexistence of the wild-type transcript and two splice variants; one variant, probably benign, is known in literature and the other one causes the loss of exon 2, containing the translation initiation site. Western blot confirmed a marked protein reduction. During the clinical follow-up child's condition remained stable and glucose metabolism is still in the standard. In conclusion, the phenotype associated with this structural rearrangement, which substantially reduces the synthesis of Wolframin, confirms a tissue-specific pattern of expression of WFS1, suggests the presence of a different protein dosage sensitivity in different tissues and could be causative of DI and OA in our patient. The "incomplete" phenotype here described, usually

  12. 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...

  13. Clinical picture and treatment implication in a child with Capgras syndrome: a case report

    OpenAIRE

    Mazzone, Luigi; Armando, Marco; De Crescenzo, Franco; Demaria, Francesco; Valeri, Giovanni; Vicari, Stefano

    2012-01-01

    Abstract Introduction Capgras syndrome is a delusional misidentification syndrome characterized by the patient’s belief that his or her relatives have been replaced by impostors. Case presentation Here we describe the clinical picture and the therapeutic approach to an 11-year-old Caucasian girl with Capgras syndrome. A complete psychopathological assessment was conducted during the acute phase, at one month, two months and six months since diagnosis. Conclusion Subsequent follow-up evaluatio...

  14. 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.

  15. The budd-Chiari syndrome in a child: a case report and review of the literature.

    Science.gov (United States)

    Misra, Vatsala; Verma, Kachnar; Singh, Dharmendra Kumar; Misra, Sri Prakash

    2012-12-01

    The Budd-Chiari Syndrome is associated with hepatic venous outflow obstruction. This syndrome is rare in infants and children. As this syndrome is uncommon, especially in the paediatric age group, misdiagnoses and delays in the diagnosis are frequent. A high index of clinical suspicion along with a radiological aid and a histopathological correlation can lead to an early diagnosis and an appropriate management in such cases.This case report highlights the occurrence of this rare condition in the paediatric age group as well as it redefines the salient features of this syndrome.

  16. Clinical picture and treatment implication in a child with Capgras syndrome: a case report.

    Science.gov (United States)

    Mazzone, Luigi; Armando, Marco; De Crescenzo, Franco; Demaria, Francesco; Valeri, Giovanni; Vicari, Stefano

    2012-11-27

    Capgras syndrome is a delusional misidentification syndrome characterized by the patient's belief that his or her relatives have been replaced by impostors. Here we describe the clinical picture and the therapeutic approach to an 11-year-old Caucasian girl with Capgras syndrome. A complete psychopathological assessment was conducted during the acute phase, at one month, two months and six months since diagnosis. Subsequent follow-up evaluations in this patient allowed us to detect improvements in the psychotic symptoms following treatment with risperidone and selective serotonin reuptake inhibitors, suggesting that this combined therapy may significantly improve the clinical outcome in patients who have Capgras syndrome.

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. 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

  4. 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.

  5. Imaging features of a rare case of scapuloiliac dysostosis (Kosenow syndrome in an ambulatory child

    Directory of Open Access Journals (Sweden)

    John Joseph

    2011-02-01

    Full Text Available Scapuloiliac dysostosis, also known as pelvis-shoulder dysplasia and Kosenow syndrome, is a rare skeletal dysplasia described first by Kosenow et al. in 1970. The main components of the syndrome are varying degrees of bilateral iliac and scapular hypoplasia. Various other skeletal abnormalities including exaggerated lumbar lordosis, and clavicular, vertebral, rib and long bone anomalies and extra-skeletal abnormalities, most commonly those of eye and ear, have also been reported. We report the plain radiography, CT and MRI findings of an interesting case of the syndrome.

  6. A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome

    DEFF Research Database (Denmark)

    Drivenes, Bergitte; Born, Alfred Peter; Ek, Jakob

    2015-01-01

    INTRODUCTION: DYT11 is an autosomal dominant inherited movement disorder characterized by myoclonus and dystonia. CLINICAL PRESENTATION: We present a case with atypical symptoms and with episodes of ataxia and myoclonus preceded by infections. Atypical presentation of opsoclonus myoclonus syndrom...

  7. Clinical Observation of a Child with KID (Keratitis-Ichthyosis-Deafness Syndrome

    Directory of Open Access Journals (Sweden)

    V.A. Klymenko

    2015-09-01

    Full Text Available A clinical case of keratitis-ichthyosis-deafness (KID syndrome in an infant is described. The article familia-rizes pediatricians and family doctors with difficulties in the diagnosis of this rare genetic disease in infants.

  8. Congenital absence of the portal vein in a child with Turner syndrome

    International Nuclear Information System (INIS)

    Noe, Jacob A.; Burton, Edward M.; Pittman, Heather C.

    2006-01-01

    Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

  9. Congenital absence of the portal vein in a child with Turner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Noe, Jacob A.; Burton, Edward M. [Department of Radiology, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States); Pittman, Heather C. [Department of Pediatrics, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States)

    2006-06-15

    Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

  10. Child Abuse and Dissociation in Patients with Complex Regional Pain Syndrome

    Directory of Open Access Journals (Sweden)

    Michael Williams

    1999-01-01

    Full Text Available >OBJECTIVE: In the absence of a proven medical explanation for the chronic pain syndrome Complex Regional Pain Syndrome type I (CRPS I, this study explored a hypothetical link between childhood physical and sexual abuse, and the subsequent development of CRPS I. The hypothesis predicts the existence of a subpopulation of CRPS I patients with a high frequency of dissociative experiences corresponding to a history of childhood trauma.

  11. Dental Treatments under the General Anesthesia in a Child with Keratitis, Ichthyosis, and Deafness Syndrome

    Directory of Open Access Journals (Sweden)

    Sera Sımsek Derelioglu

    2013-01-01

    Full Text Available KID syndrome is a rare genodermatosis characterized by keratitis, ichthyosis, and sensorineural deafness. Although the dermatological, ophthalmologic, and sensorineural defects are emphasized in the literature, oral and dental evaluations are so superficial. In this case report, dental and oral symptoms of a three year and five months old boy with KID syndrome, suffering severe Early Childhood Caries (s-ECC and dental treatments done under General Anesthesia (GA were reported.

  12. Superior sagittal sinus thrombosis: a rare complication in a child with nephrotic syndrome

    International Nuclear Information System (INIS)

    Pirogovsky, A.; Adi, M.; Barzilai, N.; Dagan, A.; Sinai, L.; Sthoeger, D.; Tabachnik, E.

    2001-01-01

    A 2-year-old boy with new-onset nephrotic syndrome developed recurrent vomiting, apathy and papilloedema. Superior sagittal sinus thrombosis was diagnosed on cranial CT and MRI. He gradually recovered after treatment with heparin, fresh frozen plasma and warfarin with complete resolution of the thrombosis after 1 month. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome in children. Early diagnosis is essential for institution of anticoagulation therapy and a successful outcome. (orig.)

  13. Superior sagittal sinus thrombosis: a rare complication in a child with nephrotic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Pirogovsky, A.; Adi, M.; Barzilai, N. [Dept. of Radiology, Kaplan Medical Center, Rehovot (Israel); Dagan, A.; Sinai, L.; Sthoeger, D. [Div. of Paediatrics, Kaplan Medical Center, Rehovot (Israel); Tabachnik, E. [Div. of Paediatrics, Kaplan Medical Center, Rehovot (Israel); Paediatric ICU, Kaplan Hospital, Rehovot (Israel)

    2001-10-01

    A 2-year-old boy with new-onset nephrotic syndrome developed recurrent vomiting, apathy and papilloedema. Superior sagittal sinus thrombosis was diagnosed on cranial CT and MRI. He gradually recovered after treatment with heparin, fresh frozen plasma and warfarin with complete resolution of the thrombosis after 1 month. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome in children. Early diagnosis is essential for institution of anticoagulation therapy and a successful outcome. (orig.)

  14. 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…

  15. 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…

  16. 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

  17. 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.

  18. 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.

  19. Appendicitis Caused by Primary Varicella Zoster Virus Infection in a Child with DiGeorge Syndrome

    DEFF Research Database (Denmark)

    Smedegaard, Lotte Møller; Christiansen, Claus Bohn; Melchior, Linea Cecilie

    2017-01-01

    to abdominal pain, increasing diarrhoea, vomiting, and poor general condition. She developed perforated appendicitis and an intraperitoneal abscess. VZV DNA was detected by PCR in two samples from the appendix and pus from the abdomen, respectively. The child was treated with acyclovir and antibiotics...... and the abscess was drained twice. She was discharged two weeks after referral with no sequela. CONCLUSION: Abdominal pain in children with viral infections can be a challenge, and appendicitis has to be considered as a complication to acute viral diseases, especially if the child is immunocompromised....

  20. Acute compartment syndrome after rupture of the medial head of gastrocnemius in a child.

    Science.gov (United States)

    Pai, Vasu; Pai, Vishal

    2007-01-01

    Rupture of the gastrocnemius muscle is an uncommon injury, with most cases occurring in athletes and, typically, presenting with the acute onset of focal calf pain and ecchymosis after injury. Although gastrocnemius ruptures are usually treated symptomatically with good results, we present an unusual case of a medial head of gastrocnemius muscle tear complicated by acute compartment syndrome in a 7-year-old boy whose right calf was crushed in a fall. After confirmation of the diagnosis of compartment syndrome, the patient underwent emergency fasciotomy with evacuation of hematoma, and, thereafter, he recovered unremarkably. Clinicians and surgeons need to maintain a high index of suspicion for compartment syndrome associated with gastrocnemius muscle injury, so that timely surgical decompression can be undertaken and complications related to delayed diagnosis and treatment can be avoided.

  1. 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.

  2. Milia-like idiopathic calcinosis cutis in a child with Down syndrome.

    Science.gov (United States)

    Kumar, Piyush; Savant, Sushil S; Nimisha, Esther; Das, Anupam; Debbarman, Panchami

    2016-05-15

    Idiopathic calcinosis cutis refers to progressive deposition of crystals of calcium phosphate in the skin and other areas of the body, in the absence of any inciting factor. Idiopathic calcinosis cutis may sometimes take the form of small, milia-like lesions. Most commonly, such milia like lesions are seen in the setting of Down syndrome. Herein, we report a 5-year-old girl with multiple asymptomatic discrete milia-like firm papules distributed over the face and extremities. A diagnosis of milia-like idiopathic calcinosis cutis associated with Down Syndrome was provisionally made and was confirmed by histopathology and karyotyping.

  3. Effectiveness of cyclosporine and mycophenolate mofetil in a child with refractory evans syndrome

    Directory of Open Access Journals (Sweden)

    Piero Farruggia

    2011-05-01

    Full Text Available Evans Syndrome is a rare autoimmune disease consisting of hemolytic anemia, thrombocytopenia and/or neutropenia. It may be associated with other autoimmune or lymphoproliferative diseases. Its course can be extremely serious and, rarely, even life-threatening; thus it represents a excellent treatment challenge for the pediatric hematologist. First line treatment consists of steroids and/or immunoglobulin; further therapy with rituximab, vincristine, cyclophosphamide and other immunosuppressive drugs can be considered in unresponsive patients. We describe a baby with refractory Evans Syndrome that was cured by prolonged administration of mycophenolate mofetil and remained disease-free for 4 years after the discontinuation of treatment.

  4. Unpredictable drug reaction in a child with Cornelia de Lange syndrome.

    Science.gov (United States)

    Stevic, Marija; Milojevic, Irina; Bokun, Zlatko; Simic, Dusica

    2015-02-01

    Preoperative use of midazolam sedation is mandatory during induction of anesthesia in noncooperative and hyperactive children to prevent possible obstacles. Unusual drug reactions rarely occur in patients undergoing anesthesia or in intensive care unit. This report describes an unpredictable drug reaction after a routine midazolam premedication in a patient with no history of allergy. There has been no literature data yet to show that midazolam can provoke respiratory problems in patients with Cornelia de Lange Syndrome. In our opinion midazolam should be avoided in patients with Cornelia de Lange Syndrome, which we enforced after first unpredictable reaction.

  5. The ESSENCE in Child Psychiatry: Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations

    Science.gov (United States)

    Gillberg, Christopher

    2010-01-01

    Co-existence of disorders--including attention-deficit/hyperactivity disorder, oppositional defiant disorder, tic disorder, developmental coordination disorder, and autism spectrum disorder--and sharing of symptoms across disorders (sometimes referred to as comorbidity) is the rule rather than the exception in child psychiatry and developmental…

  6. Syndrome dimensions of the Child Behavior Checklist and the Teacher Report Form : a critical empirical evaluation

    NARCIS (Netherlands)

    Hartman, CA; Hox, J; Auerbach, J; Erol, N; Fonseca, AC; Mellenbergh, GJ; Novik, TS; Oosterlaan, J; Roussos, AC; Shalev, RS; Zilber, N; Sergeant, JA

    1999-01-01

    The construct representation of the cross-informant model of the Child Behavior Checklist (CBCL) and the Teacher Report Form (TRF) was evaluated using confirmatory factor analysis. Samples were collected in seven different countries. The results are based on 13,226 parent ratings and 8893 teacher

  7. Effects of Support on the Attitude of the Primary Caregiver of a Child with Down Syndrome.

    Science.gov (United States)

    Heritage, Jeannette G.; And Others

    Parents of children with mental or physical handicaps often experience overwhelming feelings of stress and anxiety. Research indicates that support for the primary caregiver can help alleviate some stressors involved in raising a child with a handicap. This study examined how level of support affects feelings of satisfaction the primary caregiver…

  8. Presumed Perinatal Stroke in a Child with Down Syndrome and Moyamoya Disease

    Science.gov (United States)

    Pysden, Karen; Fallon, Penny; Moorthy, Bhagavatheswaran; Ganesan, Vijeya

    2010-01-01

    Moyamoya disease describes a cerebral arteriopathy characterized by stenosis or occlusion of the terminal internal carotid and/or the proximal middle cerebral arteries. We report a female child with trisomy 21 and bilateral moyamoya disease who presented, unusually, with a presumed perinatal cerebral infarct. The clinical, radiological, and…

  9. 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.

  10. Treatment-related Myelodysplastic Syndrome in a Child With Acute Myeloid Leukemia and TPMT Heterozygosity

    DEFF Research Database (Denmark)

    Stensman, Lars M; Kjeldsen, Eigil; Nersting, Jacob

    2015-01-01

    INTRODUCTION: We describe a patient diagnosed with acute myeloid leukemia (AML) and low activity of thiopurine methyltransferase (TPMT) who developed secondary myelodysplastic syndrome after treatment. OBSERVATION: A 10-year-old boy presented with AML-M2 with t(8;21)(q22;q22) and genotyping...

  11. Alagille syndrome in an eleven year old Nigerian child – A case report

    African Journals Online (AJOL)

    Background: Alagille syndrome (AGS) is a rare cause of prolonged jaundice. It has an autosomal dominant inheritance pattern expressed variably, with a reported incidence of 1:100,000 live births in the United States. The objective is to highlight the clinical features and diagnostic challenges to this rare cause of cholestatic ...

  12. The impact of metabolic syndrome on child weight outcomes in pediatric obesity program for Mexican Americans

    Science.gov (United States)

    Adults with metabolic syndrome (MetS) are three to five times more likely to develop type 2 diabetes and cardiovascular disease. Given the long term consequences of MetS, the growing number of children meeting criteria for MetS is concerning. In order to determine the impact of MetS on pediatric wei...

  13. Growing up with Down syndrome : The developing child and its parents

    NARCIS (Netherlands)

    Marchal, J.P.

    2017-01-01

    This thesis consists of two parts. The first part describes the results of a follow-up study concerning early life thyroid hormone treatment in children with Down syndrome. The purpose of this treatment during the first two years of life was to stimulate development and growth. Beside the results of

  14. Depressive devitalisation and pervasive refusal syndrome: new child idioms of distress?

    NARCIS (Netherlands)

    Reis, R.; Tankink, M.; Vysma, M.

    2011-01-01

    This chapter focuses on the recent emergence of a new psychiatric syndrome among asylum seeking children in Europe, particularly Sweden, called Depressive Devitalisation. It describes the professional quest for understanding the causal and therapeutic pathways of what impresses as an epidemic, and

  15. 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.

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

    African Journals Online (AJOL)

    Williams syndrome is a neurodevelopmental disorder characterized by distinctive personality traits, facial features (so called “elfin face”) and cardiac abnormalities, of which supravalvular aortic stenosis is the most common lesion found. The cause is a deletion of a group of genes on chromosome 7q11.23. Administration of ...

  17. Recurrent parotitis as a first manifestation in a child with primary Sjogren's syndrome.

    Science.gov (United States)

    Alp, H; Orbak, Z; Erdogan, T; Karabag, K; Gursan, N

    2011-12-01

    Recurrent parotitis is an acute, severe inflammation of one or both parotid glands, the major salivary glands in young children. We report the case of a seven-year old boy with Primary Sjogrens syndrome (PSS) who presented with 15 episodes of painful recurrent bilateral swellings of the parotid glands over a four-year period.

  18. Three Year Outcome of a Child with Beckwith-Wiedemann Syndrome.

    Science.gov (United States)

    Phillips, Rebecca Barsh; Prudencio, Ma. Concepcion; Russo, Sheila Daly; Estillore, Alicia; Reyes-Lee, Martha

    1998-01-01

    Presents a diminutive overview of research and a case study of Beckwith-Wiedemann syndrome (BWS), a rare, genetically complex congenital disorder. Prenatal diagnosis of this case included omphalocele, hydonephrosis, and possible horseshoe kidney, detected by ultrasound. The characteristics of this disability and related problems are discussed.…

  19. A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis

    NARCIS (Netherlands)

    G.H. van Ramshorst (Gabrielle); M.H. Lequin (Maarten); G.M.S. Mancini (Grazia); C. van de Ven (C.)

    2006-01-01

    textabstractThe authors describe a case of split notochord syndrome with a neuroenteric fistula in a newborn presenting with meningitis. Associated anomalies included agenesis of the corpus callosum, short colon, malrotation, epispadias, and an abnormally high bifurcation of the abdominal aorta and

  20. Fatal Klippel-Trenaunay syndrome in a child with pulmonary embolism

    DEFF Research Database (Denmark)

    Pedersen, Rie Skovgaard; Hedelund, Lene; Poulsen, Lone H

    2013-01-01

    Klippel-Trénaunays syndrom (KTS) er en sjælden, medfødt sygdom, der er kendetegnet ved venøse malformationer (VM), kutane kapillære malformationer og overvækst af bløddele og/eller knogler [1]. Forekomst af hyperkoagulabilitet, trombosering og lungeemboli er tidligere beskrevet hos patienter med ...

  1. A Social-Behavioral Learning Strategy Intervention for a Child with Asperger Syndrome: Brief Report

    Science.gov (United States)

    Bock, Marjorie A.

    2007-01-01

    This study examined the effect of a social-behavioral learning strategy intervention (Stop-Observe-Deliberate-Act; SODA) on the social interaction skills of one middle school student with Asperger syndrome (AS). More specifically, the study investigated the effect of SODA training on the ability of one student with AS to participate in cooperative…

  2. Normal Language Skills and Normal Intelligence in a Child with de Lange Syndrome.

    Science.gov (United States)

    Cameron, Thomas H.; Kelly, Desmond P.

    1988-01-01

    The subject of this case report is a two-year, seven-month-old girl with de Lange syndrome, normal intelligence, and age-appropriate language skills. She demonstrated initial delays in gross motor skills and in receptive and expressive language but responded well to intensive speech and language intervention, as well as to physical therapy.…

  3. Successful difficult airway management of a child with Coffin-siris syndrome.

    Science.gov (United States)

    Ozkan, Ahmet Selim; Akbas, Sedat; Yalin, Mehmet Ridvan; Ozdemir, Emine; Koylu, Zeynep

    2017-08-01

    Management of airway in patients who have Coffin-Siris syndrome (CSS) is often problematic because most of these patients have difficult airway. NTI via C-MAC VL is an useful alternative to direct laryngoscope for orotracheal intubation in airway and anesthetic management in a case of CSS. Alternative airway devices should be readily available.

  4. Successful difficult airway management of a child with Coffin?siris syndrome

    OpenAIRE

    Ozkan, Ahmet Selim; Akbas, Sedat; Yalin, Mehmet Ridvan; Ozdemir, Emine; Koylu, Zeynep

    2017-01-01

    Key Clinical Message Management of airway in patients who have Coffin?Siris syndrome (CSS) is often problematic because most of these patients have difficult airway. NTI via C?MAC VL is an useful alternative to direct laryngoscope for orotracheal intubation in airway and anesthetic management in a case of CSS. Alternative airway devices should be readily available.

  5. 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.

  6. 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.

  7. 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.

  8. 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

  9. 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.

  10. [Parental Alienation (Syndrome) - A serious form of child psychological abuse].

    Science.gov (United States)

    von Boch-Galhau, Wilfrid

    2018-04-13

    Induced parental alienation is a specific form of psychological child abuse, which is listed in DSM-5, the current Diagnostic and Statistical Manual of the American Psychiatric Association (APA), under diagnostic code V 995.51 "child psychological abuse". Untreated induced parental alienation can lead to long-term traumatic psychological and physical effects in the children concerned. This fact is still not given sufficient attention in family court cases. The article gives a condensed overview of parental alienation, summarising its definition, the symptoms and the various levels of severity. It also describes some major alienation techniques and possible psychosomatic and psychiatric effects of induced parental alienation. Finally, attention is drawn to programmes of prevention and intervention now used and evaluated in some countries. The article concludes with two real-life examples from psychiatric practice, and a comprehensive list of international references.

  11. Polybezoar in a child with Down's Syndrome after corrective surgery of congenital duodenal stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Arlart, I

    1980-11-01

    Case report of a mongoloid child (Trisomie 21), age 9, operated on in his neonatal period for congenital stenosis of the duodenum; now presenting with acute clinical signs of gastric outlet obstruction and increasing weight loss. Radiologic work-up showed this to be due to a large gastric and duodenal polybezoar, claimed to be due to emotional disturbance as part of this patients primary disease.

  12. Polybezoar in a child with Down's Syndrome after corrective surgery of congenital duodenal stenosis

    International Nuclear Information System (INIS)

    Arlart, I.

    1980-01-01

    Case report of a mongoloid child (Trisomie 21), age 9, operated on in his neonatal period for congenital stenosis of the duodenum; now presenting with acute clinical signs of gastric outlet obstruction and increasing weight loss. Radiologic work-up showed this to be due to a large gastric and duodenal polybezoar, claimed to be due to emotional disturbance as part of this patients primary disease. (orig.) [de

  13. 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…

  14. 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…

  15. 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...

  16. 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

  17. 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...

  18. 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.

  19. 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…

  20. 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…

  1. 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...

  2. 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

  3. 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…

  4. 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…

  5. 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

  6. Near demise of a child with Prader-Willi syndrome during elective orchidopexy.

    Science.gov (United States)

    Mantadakis, Elpis; Spanaki, Anna-Maria; Geromarkaki, Elsa; Vassilaki, Efrosini; Briassoulis, George

    2006-07-01

    The case of a morbidly obese 3.5-year-old boy, with Prader-Willi syndrome (PWS), who experienced a life-threatening episode of pulmonary edema soon after induction of general anesthesia with sevoflurane and intubation for orchidopexy is presented. The patient who had history of sleep apnea and who had an uneventful laparoscopy under general anesthesia 6 months previously was supported with mechanical ventilation with positive end expiratory pressure but developed hyperthermia, pneumonia, sepsis, and Acute Respiratory Distress Syndrome in the intensive care unit. He recovered fully 11 days after surgery. The possible contributing factors for the development of pulmonary edema are discussed. Arrangements for monitoring in an intensive care setting after surgery are highly recommended for patients with PWS.

  7. Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome

    International Nuclear Information System (INIS)

    Laguna, Benjamin A.; Iyer, Ramesh S.; Rudzinski, Erin R.; Roybal, Jessica L.; Stanescu, A.L.

    2015-01-01

    A 6-year-old boy with Bannayan-Riley-Ruvalcaba syndrome (BRRS) presented to the emergency department with periumbilical abdominal pain for 12 h. A contrast-enhanced abdominal and pelvis CT examination revealed significant interval change in the size and appearance of a previously seen hypoattenuating right mesocolic fatty mass suggestive for lipoma, first observed 5 months prior. This lesion demonstrated new enhancing internal septations, a thickened capsule, interval development of adjacent mesenteric fat stranding and engorgement of the mesenteric vessels. Given the short follow-up interval and acute clinical presentation, imaging findings were suggestive for torsion. We present this case for the unusual imaging findings as well as to highlight the differential diagnosis for abdominal fat containing lesions by imaging in patients with BRRS and other hamartomatous syndromes. (orig.)

  8. Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Laguna, Benjamin A. [University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA (United States); Iyer, Ramesh S.; Rudzinski, Erin R.; Roybal, Jessica L.; Stanescu, A.L. [Seattle Children' s Hospital, Department of Radiology, M/S MA.7.220, 4800 Sand Point Way NE, PO Box 5371, Seattle, WA (United States)

    2015-03-01

    A 6-year-old boy with Bannayan-Riley-Ruvalcaba syndrome (BRRS) presented to the emergency department with periumbilical abdominal pain for 12 h. A contrast-enhanced abdominal and pelvis CT examination revealed significant interval change in the size and appearance of a previously seen hypoattenuating right mesocolic fatty mass suggestive for lipoma, first observed 5 months prior. This lesion demonstrated new enhancing internal septations, a thickened capsule, interval development of adjacent mesenteric fat stranding and engorgement of the mesenteric vessels. Given the short follow-up interval and acute clinical presentation, imaging findings were suggestive for torsion. We present this case for the unusual imaging findings as well as to highlight the differential diagnosis for abdominal fat containing lesions by imaging in patients with BRRS and other hamartomatous syndromes. (orig.)

  9. Multiple osteoblastomas in a child with Cushing syndrome due to bilateral adrenal micronodular hyperplasias

    Directory of Open Access Journals (Sweden)

    Hyeoh Won Yu

    2016-03-01

    Full Text Available Adrenocorticotropin-independent adrenal hyperplasias are rare diseases, which are classified into macronodular (>1 cm and micronodular (≤1 cm hyperplasia. Micronodular adrenal hyperplasia is subdivided into primary pigmented adrenocortical disease and a limited or nonpigmented form 'micronodular adrenocortical disease (MAD', although considerable morphological and genetic overlap is observed between the 2 groups. We present an unusual case of a 44-month-old girl who was diagnosed with Cushing syndrome due to MAD. She had presented with spotty pigmentation on her oral mucosa, lips and conjunctivae and was diagnosed with multiple bone tumors in her femur, pelvis and skull base at the age of 8 years. Her bone tumor biopsies were compatible with osteoblastoma. This case highlights the importance of verifying the clinicopathologic correlation in Cushing syndrome and careful follow-up and screening for associated diseases.

  10. Immune reconstitution syndrome in a human immunodeficiency virus infected child due to giardiasis leading to shock

    Directory of Open Access Journals (Sweden)

    Sneha Nandy

    2015-01-01

    Full Text Available Human immunodeficiency virus (HIV-associated immune reconstitution inflammatory syndrome has been reported in association with tuberculosis, herpes zoster (shingles, Cryptococcus neoformans, Kaposi′s sarcoma, Pneumocystis pneumonia, hepatitis B virus, hepatitis C virus, herpes simplex virus, Histoplasma capsulatum, human papillomavirus, and Cytomegalovirus. However, it has never been documented with giardiasis. We present a 7-year-old HIV infected girl who developed diarrhea and shock following the initiation of antiretroviral therapy, and her stool showed the presence of giardiasis.

  11. Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.

    Science.gov (United States)

    Brodsky, Michael C; Turan, Kadriye Erkan; Khanna, Cheryl L; Patton, Alice; Kirmani, Salman

    2014-08-01

    We report the association of congenital mydriasis with prune belly syndrome and cerebrovascular anomalies in a 9-year-old boy who was found to have an ACTA2 mutation. This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are now known to accompany congenital mydriasis. Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  12. Pamidronate Rescue Therapy for Hypercalcemia in a Child With Williams Syndrome

    Directory of Open Access Journals (Sweden)

    Sami A. Sanjad

    2018-05-01

    Full Text Available A 15-month-old male infant diagnosed with Williams Syndrome (WS was admitted with severe hypercalcemia and nephrocalcinosis. Intravenous hydration and furosemide failed to yield an appreciable and sustainable fall in serum calcium, while the injection of pamidronate achieved a significant decrease in serum calcium in a short period of time. This bisphosphonate could be considered as a second-line treatment for refractory hypercalcemia in WS.

  13. The Brugada Syndrome Unmasked by Fever in a Two-Year-Old Child: Case Report

    Directory of Open Access Journals (Sweden)

    Ghandi

    2016-02-01

    Full Text Available Introduction Brugada syndrome (BrS is an autosomal-dominant inherited cardiac arrhythmia that occurs due to sodium channelopathy and increases sudden cardiac death due to episodes of polymorphic ventricular tachyarrhythmia. It is characterized by ST-segment elevation in the right precordial leads and right bundle branch block (RBBB pattern. We herewith present a case of Brugada syndrome with an unusual presentation. Case Presentation A 2.5-year-old girl with a history of quadriplegic cerebral palsy was admitted due to aspiration pneumonia. Cardiovascular examination and echocardiography was normal. She had a history of surgery for gastro esophageal reflux disease and was under treatment with pantoprazole. Electrocardiogram revealed ST-segment elevation in the right precordial leads (V1 - V3. The patient died during hospitalization due to cardiac arrest before any intervention. Conclusions The most important feature of Brugada syndrome is clinically suspicion. Therefore it should be considered in cases with uncontrolled seizures, stroke, refractory seizures, recurrent syncope, repeated attacks VT and conduct disorders like RBBB in the absence of structural cardiac and metabolic disorders.

  14. Neurologic deterioration with progressive CT changes in a child with Kearns-Shy syndrome

    International Nuclear Information System (INIS)

    Yoda, Satoru; Kitahara, Fuminori; Akabane, Taro; Terauchi, Akiko.

    1984-01-01

    A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Electromyography revealed a myopathic pattern. Histochemical studies on quadriceps biopsy specimens showed atrophy of type II fibers and ''ragged-red fibers.'' On electron microscopy these muscle cells were seen to contain an increased amount of glycogen particles and abnormal mitochondria were increased in number and size. It is of interest that abrupt deterioration of neurological findings such as seizures, mental subnormality, speech disturbance and deafness was present in our case. Computed tomographic scanning showed progressive changes of cerebral atrophy, low density of cerebral white matter and basal ganglia calcification, which were well associated with the clinical deterioration. A review of the literature also indicated that some patients with this syndrome showed abrupt neurological deterioration in childhood. Involvement of the central nervous system in this syndrome has to be considered as the cause of sudden deterioration and death in childhood. (author)

  15. 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.

  16. 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.

  17. 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.

  18. Inflammatory arthritis mimicking Complex Regional Pain Syndrome (CRPS) in a child: A case report.

    Science.gov (United States)

    Egilmez, Zeliha; Turgut, Selin Turan; Icagasioglu, Afitap; Bicakci, Irem

    2016-01-01

    Joint complaints in childhood are seen frequently and differential diagnosis can be difficult. Juvenile idiopathic arthritis (JIA) is the most common rheumatological disease of childhood. It involves peripheral joint arthritis, chronic synovitis, and extra-articular manifestations. Accurate diagnosis can take a long time and sometimes multiple diagnoses are used while following the patient until a final diagnosis can be reached. Arthritis may be triggered by trauma and confused with other diseases like complex regional pain syndrome (CRPS), in which trauma plays a role in the etiology. In the present case, ankle pain in an 8-year-old girl was misdiagnosed as CRPS.

  19. Coordinated Pediatric and Periodontal Dental Care of a Child with Down syndrome.

    Science.gov (United States)

    Byrd, Gentry; Quinonez, Rocio B; Offenbacher, Steven; Keels, Martha Ann; Guthmiller, Janet M

    2015-01-01

    The purpose of this report was to describe the management of an eight-year-old Bulgarian male with Down syndrome presenting with periodontitis as a manifestation of systemic disease in the early mixed dentition. Treatment involved full-mouth mechanical debridement and extraction of hopeless teeth under general anesthesia followed by systemic antibiotics and chemical adjunctive therapy. Microbial culture and sensitivity testing aided in diagnosis and guided treatment decisions. This case report demonstrates a multidisciplinary approach in the management of aggressive periodontal disease in an internationally adopted pediatric patient with special health care needs.

  20. Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome

    Directory of Open Access Journals (Sweden)

    Alessandro Aquino

    2017-01-01

    Full Text Available Pitt-Hopkins Syndrome (PTHS is a rare genetic disorder caused by insufficient expression of the TCF4 gene. Children with PTHS typically present with gastrointestinal disorders and early severe chronic constipation is frequently found (75%. Here we describe the case of a PTHS male 10-year-old patient with chronic constipation in whom Osteopathic Manipulative Treatment (OMT resulted in improved bowel functions, as assessed by the diary, the QPGS-Form A Section C questionnaire, and the Paediatric Bristol Stool Form Scale. The authors suggested that OMT may be a valid tool to improve the defecation frequency and reduce enema administration in PTHS patients.

  1. Tumor Lysis Syndrome (TLS following intrathecal chemotherapy in a child with acute myelogenous leukemia (AML

    Directory of Open Access Journals (Sweden)

    Chana L. Glasser, MD

    2017-01-01

    Full Text Available Tumor Lysis Syndrome (TLS is a well-known complication of induction therapy for hematologic malignancies. It is characterized by rapid breakdown of malignant white blood cells (WBCs leading to metabolic derangements and serious morbidity if left untreated. Most commonly, TLS is triggered by systemic chemotherapy, however, there have been case reports of TLS following intrathecal (IT chemotherapy, all in patients with acute lymphoblastic leukemia (ALL/lymphoma. Here, we report the first case of a patient with acute myelogenous leukemia (AML who developed TLS following a single dose of IT cytosine arabinoside (Ara-C.

  2. Bentall operation for a child with Marfan syndrome: a case report.

    Science.gov (United States)

    Miura, M; Shimazaki, Y; Watanabe, T; Iijima, Y; Kuraoka, S; Inui, K; Oshikirl, T; Uchida, T; Nakasato, M

    1997-01-01

    Children with Marfan syndrome rarely undergo surgery for annuloaortic ectasia and aortic regurgitation in the first decade. A 7-year-old girl presented with congestive heart failure due to severe aortic regurgitation associated with annuloaortic ectasia (6 cm). She also had funnel chest. She underwent a Bentall operation and sternal turn-over with a satisfactory result. Since the aortic valve cusps had rolled edges, the aortic valve was not spared. Histology of the aortic valve cusps showed myxoid degeneration and fragmentation of elastic fibers.

  3. Circumferential skin folds in a child: A case of Michelin tire baby syndrome

    Directory of Open Access Journals (Sweden)

    Palit Aparna

    2007-01-01

    Full Text Available A six-month-old girl who presented with dermatitis was found to have multiple, symmetric, deep, gyrate skin folds involving her trunk and similar circumferential lesions on her extremities since birth. She had a characteristic round face with hypertelorism, depressed nasal bridge, thin, down-turned vermillion border of upper lip and short neck. Skin biopsy demonstrated increased smooth muscle fibers in the deeper dermis. A diagnosis of Michelin tire baby syndrome was made. Clinical features, histopathology, differential diagnosis and prognosis of this rare disorder have been discussed.

  4. A rare case of acute poster ior reversible encephalopathy syndrome involving brainstem in a child

    Directory of Open Access Journals (Sweden)

    Olfa Chakroun-Walha

    2016-11-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is a rare entity involving brainstem in very rare reported cases. We describe here the case of a boy who presented to the emergency department for headaches and strabismus. Diagnosis of PRES was retained by magnetic resonance imaging. The causes were blood pressure urgency and renal failure. Location of lesions was very rarely reported in literature and neurological troubles were persistent. Emergency physicians should evocate PRES each time there is a clinical context associated with neurological troubles by a normal brain CT scan. Early diagnosis is very important to treat its causes and improve prognosis.

  5. Hypercalciuria in a child with acral peeling skin syndrome: a case report.

    Science.gov (United States)

    Gorczyca, Daiva; Węgłowska, Jolanta; Prescha, Anna; Woźniak, Zdzisław; Nesteruk, Dominika; Wertheim-Tysarowska, Katarzyna; Śmigiel, Robert

    2015-01-01

    We present a case of 3-year-old Caucasian boy who developed monthly cyclic attacks of skin peeling of the palms and soles over 1.5 years. The skin peeling was associated with hypercalciuria. No mutation was present in TGM5 and CSTA genes, but the typical clinical picture and the biopsy from flaccid blisters on the feet confirmed the acral peeling skin syndrome (APSS). The possible associations of rare genetic disorders and metabolic conditions in the course of APSS need to be investigated.

  6. Tachycardia-Induced Cardiomyopathy in a 12-Year-Old Child With Long QT Syndrome

    Directory of Open Access Journals (Sweden)

    Ghandi

    2016-05-01

    Full Text Available Introduction Tachycardia-induced cardiomyopathy (TIC is a ventricular dysfunction secondary to chronic and persistent tachycardia that can regress partially or completely following heart rate normalization. Paroxysmal atrial tachycardia and permanent junctional reciprocating tachycardia are two types of frequent arrhythmias that can cause cardiomyopathy in children. Case Presentation A 12-year-old child with obesity (body mass index > 26.8 was admitted with fatigue, pallor and tachypnea to the clinic. He had palpitation for the past 24 hours. On the cardiac auscultation, holosystolic 2/6 murmur was heard in the apex as well as gallop rhythm. Electrocardiogram revealed heart rate of 150 - 160 bpm and negative P waves in II, III and AVF leads. The echocardiography revealed dilated cardiomyopathy with an ejection fraction of 30%. Conclusions Diagnosis of tachycardia-induced cardiomyopathy in children is important, since appropriate treatment improves the prognosis. Every child with recurrent and persistent palpitation with the first episode of congestive heart failure should be evaluated for tachycardia- induced cardiomyopathy.

  7. 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.

  8.  Familial Ectrodactyly Syndrome in a Nigerian Child: A Case Report

    Directory of Open Access Journals (Sweden)

    Abdulrasheed Adegboye

    2011-07-01

    Full Text Available  Ectrodactyly, also known as Split-Hand/Split-Foot Malformation (SHFM is a rare genetic condition characterized by defects of the central elements of the autopod. It has a prevalence of 1:10,000-1:90,000 worldwide. The X-linked and autosomal dominant types have been described. It can occur as an isolated malformation or in combination with other anomalies, such as tibial aplasia, craniofacial defects, and genitourinary abnormalities. Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC is an example of ectrodactyly syndrome accompanied by multiple organ defects. Ectrodactyly has been reported in Africa, especially in several families in remote areas of central Africa but there has not been any published work on ectrodactyly in Nigeria. A baby was born in Ilorin, North Central Zone of Nigeria, with an uneventful prenatal and delivery history but was noticed to have malformation of the two hands and the two lower limbs at birth which are replica of the father’s malformation. We present this case to highlight familial ectrodactyly in Nigeria and prepare us to improve upon simple prenatal diagnosis and management of the challenges associated with patients with congenital malformation in Nigeria and other developing countries.

  9. Gastric leiomyoma in a child with Gorlin-Goltz syndrome: First pediatric case.

    Science.gov (United States)

    Virgone, Calogero; Decker, Emily; Mitton, Sally G; Mansour, Sahar; Giuliani, Stefano

    2016-04-01

    Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (MIM 109 400), is a rare genetic condition with a prevalence between 1/56 000 and 1/256 000. Clinical presentation is usually characterized by multiple basal cell carcinomas, odontogenic jaw keratocysts, palmar or plantar pitting and skeletal anomalies. It is furthermore associated with the development of various tumors beside basal cell carcinoma, among which medulloblastoma is the most frequent. Increased incidence of other mesenchymal neoplasms, however, is also well known: recently the first adult case of gastric leiomyoma in GGS was reported, and the inclusion of "fibromas and leiomyomas of other organs" in the minor criteria for the diagnosis was suggested. We report the first case of a pediatric patient with GGS who also developed a gastric leiomyoma: the present case illustrates the need for this change to the diagnostic criteria to encompass the highly variable presentations and phenotype in GGS. © 2015 Japan Pediatric Society.

  10. Clostridium sordellii as a Cause of Fatal Septic Shock in a Child with Hemolytic Uremic Syndrome

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    Rebekah Beyers

    2014-01-01

    Full Text Available Clostridium sordellii is a toxin producing ubiquitous gram-positive anaerobe, mainly associated with trauma, soft tissue skin infections, and gynecologic infection. We report a unique case of a new strain of Clostridium sordellii (not present in the Center for Disease Control (CDC database infection induced toxic shock syndrome in a previously healthy two-year-old male with colitis-related hemolytic uremic syndrome (HUS. The patient presented with dehydration, vomiting, and bloody diarrhea. He was transferred to the pediatric critical care unit (PICU for initiation of peritoneal dialysis (PD. Due to increased edema and intolerance of PD, he was transitioned to hemodialysis through a femoral vascular catheter. He subsequently developed severe septic shock with persistent leukocytosis and hypotension, resulting in subsequent death. Stool culture confirmed Shiga toxin producing Escherichia coli 0157:H7. A blood culture was positively identified for Clostridium sordellii. Clostridium sordelli is rarely reported in children; to our knowledge this is the first case described in a pediatric patient with HUS.

  11. Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome.

    Science.gov (United States)

    Küçüktaşçi, Kazim; Semiz, Serap; Balci, Yasemin Işik; Özsari, Tamer; Gürses, Dolunay; Önem, Gökhan; Saçar, Mustafa; Düzcan, Füsun; Yüksel, Doğangün; Semiz, Ender

    2016-10-01

    Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and deafness. Poorly controlled type 1 DM increases the risk for thrombosis. However, coexistence of DM and hereditary thrombosis factors is rarely observed. Here we present the case of a 13.5-year-old, nonfollowed girl newly diagnosed with poorly controlled Wolfram syndrome on the basis of the results of clinical and laboratory examinations. On the eighth day after diabetic ketoacidosis treatment, pulmonary embolism developed in the subject. Thrombus identified in the right atrium using echocardiography was treated by emergency thrombectomy. Homozygous mutation in the methylenetetrahydrofolate reductase gene C677T, heterozygous factor-V Leiden mutation, and active protein C resistance were identified in the patient. The patient was lost because of a recurring episode of pulmonary embolism on the 86th day of hospitalization. We present this case to highlight the need for investigating hereditary thrombosis risk factors in diabetic patients in whom thromboembolism develops.

  12. Serotonin Syndrome after Sertraline Overdose in a Child: A Case Report

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    Joana Grenha

    2013-01-01

    Full Text Available Serotonin syndrome is a potentially life-threatening drug effect. It may be misdiagnosed because it has mostly been reported in adults. Case Report. An 8-year-old girl with behavioral problems and medicated with risperidone and sertraline was admitted in the emergency department after she had taken voluntarily 1500 mg of sertraline (50 mg/kg. At admission, she had marked agitation, visual hallucinations, diaphoresis, flushing, and tremor. She had fever and periods of hypertension. She also showed generalized rigidity and involuntary movements. She was treated with fluids and iv diazepam, midazolam, clemastine, and biperiden. As the patient presented a severe insomnia and a progressive rhabdomyolysis, she was transferred to pediatric intensive care unit (ICU, where she was under treatment with cyproheptadine, mechanical ventilation, and muscular paralysis for 11 days. She was discharged from hospital a few days later with no neurological sequelae. Conclusions. Serotonin syndrome is still not well recognized by physicians. In our patient, the diagnosis was made early due to the history of overdose with serotonin reuptake inhibitors and the triad of mental, neurological, and autonomic signs. Parents must be educated to prevent children from having free access to drugs, avoiding self-medication or overdose.

  13. 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…

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

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    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.

  15. Combined orthodontic and periodontic treatment in a child with Papillon Lefèvre syndrome.

    Science.gov (United States)

    AlSarheed, Maha A; Al-Sehaibany, Fares S

    2015-08-01

    A 9-year-old girl with Papillon-Lefèvre syndrome (PLS) was treated orthodontically 24 months after the start of mechanical and antibiotic therapy in adjunct with periodontal treatment every 6 weeks. After achieving stable periodontal conditions, orthodontic treatment was commenced to correct the teeth position, facial profile, and maxillary protraction. Following the combination therapy and a failure to detect Actinobacillus actinomycetemcomitans from any site in the oral cavity, orthodontic treatment with a fixed appliance was performed aside from creating space for eruption of permanent teeth. We found that combined periodontal and orthodontic treatment of PLS may be successful with a complex interdisciplinary regimen and close follow up. This is a 2-year follow-up case report of a girl with PLS. Orthodontic and periodontic therapy were offered using combined treatments of orthodontic and periodontal with the benefit of prosthodontic consultation, resulting in a treatment plan.

  16. Parvovirus B19-triggered acute hemolytic anemia and thrombocytopenia in a child with Evans syndrome

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    ELPIS MANTADAKIS

    2018-03-01

    Full Text Available Background: Human parvovirus B19 (HPV-B19 is the etiologic agent of erythema infectiosum, of transient aplastic crises in individuals with underlying chronic hemolytic disorders, and of chronic pure red cell aplasia in immunocompromised individuals. Case report. We describe a 14-year-old girl with long-standing Evans syndrome, who presented with severe anemia, reticulocytopenia and thromocytopenia. A bone marrow aspirate revealed severe erythroid hypoplasia along with presence of giant pronormoblasts, while serological studies and real-time PCR of whole blood were positive for acute parvovirus B19 infection. The patient was initially managed with corticosteroids, but both cytopenias resolved only after administration of intravenous gamma globulin 0.8g/kg. Conclusion: Acute parvovirus B19 infection should be suspected in patients with immunologic diseases, who present with reticulocytopenic hemolytic anemia and thrombocytopenia. In this setting, intravenous gamma globulin is effective for both cytopenias.

  17. The cause of abdominal mass in a child with celiac disease: Rapunzel syndrome. A case report

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    Yeliz Çağan Appak

    2018-03-01

    Full Text Available ABSTRACT CONTEXT: Rapunzel syndrome is a rare form of gastric trichobezoar that develops through outstretching of the bezoar from the stomach to the intestine. CASE REPORT: A 12-year-old girl who had been diagnosed with celiac disease six years earlier was brought to the department of pediatric gastroenterology because of abdominal distension. A palpable mass was detected. A trichobezoar that stretched to the small intestine was removed surgically. The patient was diagnosed as having anxiety and depressive disorder, and treatment started. Following the treatment, her previous trichophagia completely disappeared. CONCLUSION: Presence of trichobezoar should be kept in mind, especially when young girls who have psychiatric problems suffer from gastrointestinal symptoms.

  18. Chronic Disseminated Candidiasis Complicated by Immune Reconstitution Inflammatory Syndrome in Child with Acute Lymphoblastic Leukemia

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    Olga Zając-Spychała

    2016-01-01

    Full Text Available Hepatosplenic candidiasis also known as chronic disseminated candidiasis is a rare manifestation of invasive fungal infection typically observed in patients with acute leukemia in prolonged, deep neutropenia. Immune reconstitution inflammatory syndrome (IRIS is an inflammatory disorder triggered by rapid resolution of neutropenia. Diagnosis and treatment of IRIS are still challenging due to a variety of clinical symptoms, lack of certain diagnostic criteria, and no standards of treatment. The diagnosis of IRIS is even more difficult in patients with hematological malignancies complicated by “probable” invasive fungal infection, when fungal pathogen is still uncertain. We report a case of probable hepatic candidiasis in 4-year-old boy with acute lymphoblastic leukemia. Despite proper antifungal therapy, there was no clinical and radiological improvement, so diagnosis of Candida-related IRIS was made and corticosteroid therapy was added to antifungal treatment achieving prompt resolution of infection symptoms.

  19. Bardet-biedl syndrome in a child with chronic kidney disease

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    Valavi Ehsan

    2009-01-01

    Full Text Available A 4-year old boy was referred for evaluation of renal failure, posterior urethral valve (PUV and urinary tract infection. His parents added complaints of polyuria, polydipsia, enuresis, shortness of stature, and inappropriate obesity. Serum blood urea nitrogen and creatinine levels were 45 and 3.5 mg/dL, respectively. Urine culture was positive for Pseudomonas aeruginosa, and abdominal ultrasound revealed bilateral small kidneys. The patient′s history included mild to moderate mental retardation and postaxial polydactyly of both lower limbs amputated two years ago. The combination of mental retar-dation, obesity, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis Bardet-Biedl syndrome (BBS. The combination of PUV and BBS is a rare condition that caused this early onset of renal failure and inappropriate obesity guided us to the diagnosis.

  20. Peripheral ulcerative keratitis associated with chronic malabsorption syndrome and miliary tuberculosis in a child

    Directory of Open Access Journals (Sweden)

    Tarun Arora

    2015-01-01

    Full Text Available A 16-year-old girl presented with pain, redness, watering, and blurring of vision in her right eye. Slit lamp examination revealed the presence of peripheral ulcerative keratitis (PUK and nodular scleritis. On clinical examination, the patient had stunted growth, low body mass index, and enlarged axillary nodes. Giardia cysts were present in the stool sample and histopathology of axillary lymph nodes showed caseating necrosis suggestive of tuberculosis (TB. A diagnosis of PUK with chronic malabsorption syndrome secondary to giardiasis and miliary TB was made. Oral metronidazole, anti-tubercular treatment, high protein diet and vitamin supplements were started. Topical steroids were started for peripheral ulcerative lesions following, which the PUK resolved.

  1. Successful Management of a Rare Cause of Hemolytic Uremic Syndrome With Eculizumab in a Child.

    Science.gov (United States)

    Alparslan, Caner; Yavaşcan, Önder; Kasap Demir, Belde; Atmiş, Bahriye; Karabay Bayazit, Aysun; Leblebisatan, Göksel; Öncel, Elif P; Alaygut, Demet; Mutlubaş, Fatma; Aksu, Nejat

    2018-03-23

    Hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia, acute renal failure, and thrombocytopenia. It very rarely coexists with acute lymphoblastic leukemia (ALL) emerging before, simultaneously, or after the diagnosis has been made, and management of the patient may be difficult. We present the case of a 7-year-old boy who was diagnosed with HUS and initially managed by hemodialysis (HD). Thereafter, HUS progressed, and neurological findings developed. The patient was treated with eculizumab, agressive blood pressure control, and antiepileptic drugs. At the fifth month of follow-up, the patient was diagnosed with acute B-cell lymphoblastic leukemia with fever, bone pain, hepatosplenomegaly, and pancytopenia. After initiation of ALL treatment, he had no episodes of HUS, despite cessation of eculizumab. In conclusion, eculizumab may be a treatment of choice to prevent further systemic damage in recurrent HUS episodes of patients with borderline changes in the bone marrow until ALL is constantly diagnosed.

  2. Cervical spondylotic myelopathy caused by violent motor tics in a child with Tourette syndrome.

    Science.gov (United States)

    Ko, Da-Young; Kim, Seung-Ki; Chae, Jong-Hee; Wang, Kyu-Chang; Phi, Ji Hoon

    2013-02-01

    We report a case of a 9-year-old boy with Tourette syndrome (TS) who developed progressive quadriparesis that was more severe in the upper extremities. He had experienced frequent and violent motor tics consisting of hyperflexion and hyperextension for years. Magnetic resonance imaging (MRI) revealed a focal high-signal intensity cord lesion and adjacent cervical spondylotic changes. Initially, the patient was observed for several months because of diagnostic uncertainty; his neurological status had improved and later worsened again. Anterior cervical discectomy of C3-4 and fusion immediately followed by posterior fixation were performed. After surgery, the neck collar was applied for 6 months. His neurological signs and symptoms improved dramatically. TS with violent neck motion may cause cervical spondylotic myelopathy at an early age. The optimal management is still unclear and attempts to control tics should be paramount. Circumferential fusion with neck bracing represents a viable treatment option.

  3. Alternative treatment for open bite Class III malocclusion in a child with Williams-Beuren syndrome

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    Giovanni Modesto Vieira

    2015-02-01

    Full Text Available Williams-Beuren syndrome (WBS is a rare genetic condition that affects approximately 1 in every 20,000 - 50,000 live births. WBS children have specific skeletal deformities, dental malformations and rare lingual muscle dysfunction. The need for orthodontic and orthognathic therapy has arisen and has been considered a real clinical challenge even for experienced professionals, once it requires a complex and individualized treatment plan. This study reports a case of orthopedic expansion of the maxilla, in which a modified facial mask was used for protraction of the maxillary complex associated with clockwise rotation of the maxilla. In addition, special considerations about treatment time and orthopedic outcomes are discussed.

  4. Prolonged thrombocytopenia in a child with severe neonatal alloimmune reaction and Noonan syndrome.

    Science.gov (United States)

    Salva, Inês; Batalha, Sara; Maia, Raquel; Kjollerstrom, Paula

    2016-06-01

    Fetomaternal alloimmune thrombocytopenia (FMAIT) caused by maternal antibodies is the leading cause of severe neonatal thrombocytopenia. A 1-month-old Caucasian girl was referred to our Hematology Clinic for persistent thrombocytopenia diagnosed after a bleeding episode. Diagnostic tests suggested FMAIT. Mild thrombocytopenia persisted for 18 months, and subsequent findings of dysmorphic facies, short stature and mild pulmonary stenosis led to the hypothesis of Noonan syndrome (NS), which was confirmed by genetic test. Other hematological abnormalities were excluded and she had no further bleeding episodes. This case illustrates the possibility of different diagnoses with the same clinical manifestations. The persistence of thrombocytopenia longer than expected associated with typical physical features led to the diagnosis of NS.

  5. Bardet-biedl syndrome in a child with chronic kidney disease

    International Nuclear Information System (INIS)

    Valavi, Ehsan; Ahmadzadeh Ali; Ansari, Mohammad Javad Alemzadeh

    2009-01-01

    A 4-year old boy was referred for evaluation of renal failure, posterior urethral valve (PUV) and urinary tract infection. His parents added complaints of polyuria, polydipsia, enuresis, shortness of stature, and inappropriate obesity. Serum blood urea nitrogen and creatinine levels were 45 and 3.5 mg/dL, respectively. Urine culture was positive for Pseudomonas aeruginosa, and abdominal ultrasound revealed bilateral small kidneys. The patient's history included mild to moderate mental retardation and postaxial polydactyly of both lower limbs amputated two years ago. The combination of mental retardation, obesity, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis Bardet-Biedl syndrome (BBS). The combination of PUV and BBS is a rare condition that caused this early onset of renal failure and inappropriate obesity guided us to the diagnosis. (author)

  6. Parvovirus B19-triggered Acute Hemolytic Anemia and Thrombocytopenia in a Child with Evans Syndrome.

    Science.gov (United States)

    Zikidou, Panagiota; Grapsa, Anastassia; Bezirgiannidou, Zoe; Chatzimichael, Athanassios; Mantadakis, Elpis

    2018-01-01

    Human parvovirus B19 (HPV-B19) is the etiologic agent of erythema infectiosum, of transient aplastic crises in individuals with underlying chronic hemolytic disorders, and of chronic pure red cell aplasia in immunocompromised individuals. We describe a 14-year-old girl with long-standing Evans syndrome, who presented with severe anemia, reticulocytopenia and thrombocytopenia. A bone marrow aspirate revealed severe erythroid hypoplasia along with the presence of giant pronormoblasts, while serological studies and real-time PCR of whole blood were positive for acute parvovirus B19 infection. The patient was initially managed with corticosteroids, but both cytopenias resolved only after administration of intravenous gamma globulin 0.8g/kg. Acute parvovirus B19 infection should be suspected in patients with immunologic diseases, who present reticulocytopenic hemolytic anemia and thrombocytopenia. In this setting, intravenous gamma globulin is effective for both cytopenias.

  7. Acute adrenal failure as the presenting feature of primary antiphospholipid syndrome in a child

    Directory of Open Access Journals (Sweden)

    Improda Nicola

    2012-09-01

    Full Text Available Abstract Introduction Antiphospholipid syndrome (APS is characterized by recurrent arterial and venous thrombosis and detection of antiphospholipid antibodies (aPLs. This syndrome may be associated with connective tissue disorders, or with malignancies, but it may also appear in isolated form (primary APS. We report on a pediatric patient presenting with acute adrenal failure as the first manifestation of primary APS. Case report A previously healthy 11-year-old boy developed fever, abdominal pain, and vomiting. An abdominal computed tomography scan showed nodular lesions in the adrenal glands. He was referred to our Department and a diagnosis of APS and acute adrenal failure was considered, based on positive aPLs (IgG and IgM, elevated ACTH levels and low cortisol levels. Other features were anemia, thrombocytopenia, elevated inflammatory parameters, hypergammaglobulinemia, prolonged partial thromboplastin time, positive antinuclear, anticardiolipin, anti-platelet antibodies, with negative double-stranded DNA antibodies. Lupus anticoagulant and Coomb’s tests were positive. MRI revealed a bilateral adrenal hemorrhage. A treatment with intravenous metylprednisolone, followed by oral prednisone and anticoagulant, was started, resulting in a progressive improvement. After 2 months he also showed hyponatremia and elevated renine levels, indicating a mineralcocorticoid deficiency, requiring fludrocortisones therapy. Conclusion The development of acute adrenal failure from bilateral adrenal haemorrhage in the context of APS is a rare but life-threatening event that should be promptly recognized and treated. Moreover, this case emphasizes the importance of the assessment of aPLs in patients with acute adrenal failure in the context of an autoreaction.

  8. 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.

  9. Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years.

    Science.gov (United States)

    Arditi, Jessica D; Thomaidis, Loretta; Frysira, Helen; Doulgeraki, Artemis; Chrousos, George P; Kanaka-Gantenbein, Christina

    2017-07-26

    Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood. We report a male patient with ACH and KS, diagnosed in early infancy because of his typical phenotype of ACH. The diagnosis was confirmed by molecular analysis revealing a de novo heterozygous 1138 G-to-A mutation of the FGFR3 gene. During his first assessment, a karyotype was performed, which also revealed coexistence of KS. He was followed by our pediatric endocrinology team until the age of 16 years, then he was gradually transferred to adult endocrine care. This is the first reported case with both conditions that was diagnosed in infancy and was longitudinally followed by a pediatric endocrinology team regularly, from infancy to late adolescence. With a typical phenotype of ACH, it is striking and noteworthy that he did not develop the classical endocrine complications of a child with KS, neither did he necessitate testosterone supplementation during his pubertal development, due to his normal virilization and testosterone levels.

  10. 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.

  11. 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.

  12. 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®

  13. 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.

  14. Unusual and subtle scintigraphic findings in the evaluation of the battered child

    International Nuclear Information System (INIS)

    Howard, J.L.; Barron, B.J.; Smith, G.G.

    1988-01-01

    Nuclear medicine imaging plays a key role in the evaluation of skeletal trauma. Recent findings in our department show that diagnoses other than skeletal trauma are often identified by means of subtle and unusual scintigraphic findings. The subject material will place strong emphasis on the less mentioned but often more important visceral and intracranial injury. Specific scintigraphic abnormalities to be demonstrated, with appropriate correlative radiographs, include (1) visceral and soft tissue (eg, duodenal hematoma, splenic laceration, renal contusion, hepatic hematoma, rhabdomyolysis and soft-tissue hematoma); (2) cranial (eg, intracranial bleeding, edema, and infarct, cephalohematoma, skull fracture, and widening of sutures; and (3) skeletal (various subtle abnormalities)

  15. Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies.

    Science.gov (United States)

    Balci, Sevim; Engiz, Ozlem; Aktaş, Dilek; Vargel, Ibrahim; Beksaç, M S; Mrasek, Kristin; Vermeesch, Joris; Liehr, Thomas

    2006-03-15

    We report on a 16-month-old male patient with ring chromosome 4 and deletion of Wolf-Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut malrotation, hypospadias, and double urethral orifices. Peripheral chromosome analysis of the patient showed 46,XY,r(4)(p16.3q35) de novo. Multicolor fluorescence in situ hybridization (FISH) study was also performed and according to multicolor banding (MCB) a r(4)(::p16.3 --> q34.3 approximately 35.1::) was found in all metaphases. Subtelomeric 4p region, subtelomeric 4q region, as well as, Wolf-Hirschhorn critical region were deleted in ring chromosome 4. Genomic microarray analysis was also performed to delineate the size of deletion. Cranial magnetic resonance imaging (MRI) showed hypoplastic corpus callosum, delayed myelinization, and frontal and occipital lobe atrophies. Both maternal and paternal chromosomal analyses were normal. We compare the phenotypic appearance of our patient with the previously reported 16 cases of ring chromosome 4 in the medical literature. 2006 Wiley-Liss, Inc.

  16. Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome

    Directory of Open Access Journals (Sweden)

    Asma Deeb

    2017-01-01

    Full Text Available Wolf-Hirschhorn Syndrome (WHS is a rare genetic disease caused by deletion in the short arm of chromosome 4. It is characterized by typical fascial features and a varying degree of intellectual disabilities and multiple systemic involvement. Epidemiological studies confirmed the association of acute pancreatitis with the development of diabetes. However, this association has not been reported in WHS. We report an 18-year-old girl with WHS who presented acutely with nonketotic Hyperglycemic Hyperosmolar Status (HHS in association with severe acute pancreatitis. Her presentation was preceded by febrile illness with preauricular abscess. She was treated with fluids and insulin infusion and remained on insulin 18 months after presentation. Her parents are cousins and the mother was diagnosed with type 2 diabetes. She had negative autoantibodies and no signs of insulin resistance and her monogenic diabetes genetic testing was negative. Microarray study using WHS probe confirmed deletion of 4p chromosome. Acute pancreatitis is uncommon in children and development of diabetes following pancreatitis has not been reported in WHS. HHS is considerably less frequent than diabetes ketoacidosis in children. We highlight the complex presentation with HHS and acute pancreatitis leading to diabetes that required long term of insulin treatment.

  17. Oral manifestations and dental management of a child with Zellweger syndrome.

    Science.gov (United States)

    Lertsirivorakul, Jinda; Wongswadiwat, Malinee; Treesuwan, Panta

    2014-01-01

    Zellweger syndrome (ZS) is a rare autosomal recessive disorder, resulting from an impairment in peroxisome function. It is characterized by craniofacial dysmorphism and neurological abnormalities, and involves several systems, which may complicate dental and anesthesia management. The case of a 7-year-old girl diagnosed with ZS is described with emphasis on oral manifestations, oral rehabilitation under general anesthesia (GA), and home oral care. Apart from the unique features of ZS, she presented with clinodactyly, distinctive palatal vault, Class III malocclusion, missing teeth, microdontia, and delayed dental formation. Dental treatment under GA was conducted with concerns of risk of respiratory insufficiency. Oral home care by the parent and regular recall visits were essential to maintain good oral health. Children with ZS may survive into late childhood. They, however, present multiple health problems that are of special concern for not only the pediatric dentist but also the anesthesiologist. Collaboration with the medical team is essential for optimal care of these patients. ©2012 Special Care Dentistry Association and Wiley Periodicals, Inc.

  18. 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.

  19. 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.

  20. 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.

  1. "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).

  2. Gilles de la Tourette Syndrome, Depression, Depressive Illness, and Correlates in a Child and Adolescent Population.

    Science.gov (United States)

    Rizzo, Renata; Gulisano, Mariangela; Martino, Davide; Robertson, Mary May

    2017-04-01

    Gilles de la Tourette syndrome (GTS) and depression are both common disorders. It has been suggested that depression occurs in 13%-76% GTS patients. Despite this, there are few studies into the specific relationships and correlates between the two disorders. There is only some consensus as to the precise relationship between the two disorders. We undertook the study to investigate the relationship between depressive symptomatology and the core clinical features of GTS in a well-characterized clinical population of youth with this disorder. Our aim was to verify the association between depression and comorbid obsessive-compulsive disorder and explore further other potential associations highlighted in some, but not all, of the studies focused on this topic. Our results demonstrated that (1) the GTS patients were significantly older than the controls, (2) the GTS patients were significantly more depressed than controls, (3) depression was associated with tic severity, (4) the Diagnostic Confidence Index scores were higher in GTS patients without depression, (5) anxiety, attention-deficit/hyperactivity disorder (ADHD), conduct disorder (CD), and behavioral problems were significantly associated with depression, and (6) finally, patients with GTS and depression have a positive family history of depression. However, obsessionality (CY-BOCS) did not differentiate between depressed and not depressed GTS patients. Depression is common in patients with GTS and occurs significantly more in GTS than in controls. Depression is significantly associated with GTS factors such as tic severity, comorbidity with ADHD, and the presence of coexistent anxiety, CDs, and behavior problems. Depression is importantly significantly associated with a positive family history of depression. Intriguingly, depression in our sample was not related to obsessionality.

  3. 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.

  4. 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.

  5. 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

  6. 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.

  7. 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.

  8. [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.

  9. 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

  10. 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.

  11. 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…

  12. How to maintain the oral health of a child with Wolff-Parkinson-White syndrome: a case report.

    Science.gov (United States)

    Petroniatis, Tsampikos; Ortu, Eleonora; Marchili, Nicola; Giannoni, Mario; Marzo, Giuseppe; Monaco, Annalisa

    2014-09-30

    Wolff-Parkinson-White syndrome is one of the most important disorders of the heart conduction system. It is caused by the presence of an abnormal accessory electrical conduction pathway between the atria and the ventricles. In the present report, we describe the correct oral health management of a 12-year-old Caucasian girl with Wolff-Parkinson-White syndrome. We successfully undertook the dental care of a girl with Wolff-Parkinson-White syndrome, which we describe here.

  13. Open abdomen procedure in managing abdominal compartment syndrome in a child with severe fungal peritonitis and sepsis after gastric perforation

    Directory of Open Access Journals (Sweden)

    Wei Lai

    2016-04-01

    Full Text Available Abdominal compartment syndrome with increased abdominal pressure resulted in multi-organ dysfunctions can be lethal in children. The open abdomen procedure intentionally leaves the abdominal cavity open in patients with severe abdominal sepsis and abdominal compartment syndrome by temporarily relieving the abdominal pressure. We reported our experience of open abdomen procedure in successfully treating a 4-year old boy with abdominal compartment syndrome caused by severe fungal peritonitis and sepsis after gastric perforation.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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®

  19. "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.

  20. 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...

  1. A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.

    Science.gov (United States)

    Tzoufi, Meropi; Makis, Alexandros; Chaliasos, Nikolaos; Nakou, Iliada; Siomou, Ekaterini; Tsatsoulis, Agathoklis; Zikou, Anastasia; Argyropoulou, Maria; Bonnefont, Jean Paul; Siamopoulou, Antigone

    2013-04-01

    Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than age 20 years, and one of the following: cardiac conduction defects, cerebellar syndrome, or cerebrospinal fluid protein above 100 mg/dl. KSS may affect many organ systems causing endocrinopathies, encephalomyopathy, sensorineural hearing loss, and renal tubulopathy. Clinical presentation at diagnosis is quite heterogeneous and, usually, few organs are affected with progression to generalized disease early in adulthood. We present the case of a boy with KSS presenting at the age of 5 years with myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome. The proper replacement treatment along with the administration of mitochondrial metabolism-improving agents had a brief ameliorating effect, but gradual severe multisystemic deterioration was inevitable over the next 5 years. This report highlights the fact that in case of simultaneous presentation of polyendocrinopathies and renal disease early in childhood, KSS should be considered.

  2. Clinical Management of a Child with Prader-Willi Syndrome from Maternal Uniparental Disomy (UPD) Genetic Inheritance

    Science.gov (United States)

    Bellon-Harn, Monica L.

    2005-01-01

    Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated…

  3. 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.

  4. Impact of Perceived Stress, Anxiety-Depression and Social Support on Coping Strategies of Parents Having A Child With Gilles de la Tourette Syndrome.

    Science.gov (United States)

    Goussé, Véronique; Czernecki, Virginie; Denis, Pierre; Stilgenbauer, Jean-Louis; Deniau, Emmanuelle; Hartmann, Andreas

    2016-02-01

    Previous reports have indicated that raising a child with Gilles de la Tourette syndrome (GTS) could be considered a stressful experience. Thus our study aimed to assess the impact of perceived stress (i.e. parental cognitive perception of their child's disorder) and social support (number of people surrounding the subject providing support) on coping strategies-defined as processes of restoring balance between excessive demands and inadequate resources-of parents having a child with GTS. Twenty-eight parents of 21 patients with GTS (aged 6 to 16years) completed questionnaires on perceived stress (ALE Scale), social support (SSQ6), coping strategies (WCC-R) and anxiety-depression (HAD). Principal component analysis showed a negative correlation between social support on one side and perceived stress and anxiety/depression on the other. Problem- and emotion-focused coping both correlated with social support, all of them being independent from perceived stress and anxiety/depression. Hierarchical ascendant classification showed three clusters of individuals in our parents' groups: i) those having high scores in perceived stress and anxiety-depression; ii) those having high scores in social support associated with low scores in perceived stress; iii) parents having lower than average scores on both problem- and emotion- focused coping and social support. Our results reinforce the need for developing training programs for parents with GTS children to better understand and tolerate the disorder to decrease their stress. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. 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.

  6. 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.

  7. 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

  8. 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 ...

  9. 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.

  10. 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.

  11. 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.

  12. 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. ...

  13. Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.

    Science.gov (United States)

    Guerin, Andrea; So, Joyce; Mireskandari, Kamiar; Jougeh-Doust, Soghra; Chisholm, Caitlin; Klatt, Regan; Richer, Julie

    2015-02-01

    Ocular anomalies have been frequently reported in Noonan syndrome. Anterior segment anomalies have been described in 57% of PTPN11 positive patients, with the most common findings being corneal changes and in particular, prominent corneal nerves and cataracts. We report on a neonate with a confirmed PTPN11 mutation and ocular findings consistent with Axenfeld anomaly. The patient initially presented with non-immune hydrops and subsequently developed hypertrophic cardiomyopathy and dysmorphic features typical of Noonan syndrome. While a pathogenic mutation in PTPN11 was confirmed, prior testing for the two common genes associated with Axenfeld-Rieger syndrome, PITX2, and FOXC1 was negative. This finding expands the spectrum of anterior chamber anomalies seen in Noonan syndrome and perhaps suggests a common neural crest related mechanism that plays a critical role in the development of the eye and other organs. © 2014 Wiley Periodicals, Inc.

  14. Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims)

    International Nuclear Information System (INIS)

    Neumann, Luitgard M.; Kunze, Juergen; Scheer, Ianina; Stoever, Brigitte

    2003-01-01

    The report focuses on a rare variant form of epidermal nevus syndrome (ENS) (Schimmelpenning-Feuerstein-Mims syndrome) describing lesions involving the skin, eyes, skeleton, heart and brain in an 11-year-old boy. Despite his evident brain pathology, the boy lacks neurological symptoms and mental retardation. We describe his unusual MRI appearances and radiographic skeletal findings. To our knowledge this is the first report of ENS with lymphoedema occurring together in the same individual. (orig.)

  15. 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.

  16. 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.

  17. 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)

  18. Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis and Guillain-Barre Syndrome in a 16-Month-Old Child

    Directory of Open Access Journals (Sweden)

    Motohiro Matsui MD

    2016-03-01

    Full Text Available A 16-month-old girl was diagnosed with Epstein-Barr virus hemophagocytic lymphohistiocytosis and transferred to our hospital on the 58th day of the hemophagocytic lymphohistiocytosis after treatment failure according to the Hemophagocytic Lymphohistiocytosis-2004 protocol. On admission to our hospital, she had a flaccid paralysis of her lower limbs. Nerve conduction studies showed a acute motor axonal neuropathy, and a diagnosis of Guillain-Barre syndrome was established. Intravenous immunoglobulin G was started on the 57th day of the Guillain-Barre syndrome. To date, her neurological recovery is incomplete. For hemophagocytic lymphohistiocytosis, after treatment failure of THP-COP regimen (pirarubicin, cyclophosphamide, vincristine, and prednisone and 2 courses of ESCAP regimen (etoposide, prednisone, cytarabine, L-asparaginase, we are now in the process of coordinating unrelated umbilical cord blood transplantation. To the best of our knowledge, we report the youngest case of Guillain-Barre syndrome accompanied by Epstein-Barr virus hemophagocytic lymphohistiocytosis. Rapid progression of Guillain-Barre syndrome, the electrophysiological subtype of Guillain-Barre syndrome, and treatment delay possibly led to poor neurological outcome.

  19. Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis and Guillain-Barre Syndrome in a 16-Month-Old Child.

    Science.gov (United States)

    Matsui, Motohiro; Shimizu, Mariko; Ioi, Aya; Mayumi, Azusa; Higuchi, Kohei; Sawada, Akihisa; Sato, Maho; Yasui, Masahiro; Yanagihara, Keiko; Inoue, Masami

    2016-01-01

    A 16-month-old girl was diagnosed with Epstein-Barr virus hemophagocytic lymphohistiocytosis and transferred to our hospital on the 58th day of the hemophagocytic lymphohistiocytosis after treatment failure according to the Hemophagocytic Lymphohistiocytosis-2004 protocol. On admission to our hospital, she had a flaccid paralysis of her lower limbs. Nerve conduction studies showed a acute motor axonal neuropathy, and a diagnosis of Guillain-Barre syndrome was established. Intravenous immunoglobulin G was started on the 57th day of the Guillain-Barre syndrome. To date, her neurological recovery is incomplete. For hemophagocytic lymphohistiocytosis, after treatment failure of THP-COP regimen (pirarubicin, cyclophosphamide, vincristine, and prednisone) and 2 courses of ESCAP regimen (etoposide, prednisone, cytarabine, L-asparaginase), we are now in the process of coordinating unrelated umbilical cord blood transplantation. To the best of our knowledge, we report the youngest case of Guillain-Barre syndrome accompanied by Epstein-Barr virus hemophagocytic lymphohistiocytosis. Rapid progression of Guillain-Barre syndrome, the electrophysiological subtype of Guillain-Barre syndrome, and treatment delay possibly led to poor neurological outcome.

  20. What is the fate of disconnected brain tissue in a child with Rasmussen syndrome? A case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, S.J.; Park, Y.D. [Dept. of Neurology (Child), Medical Coll. of Georgia, Augusta, GA (United States); Pillai, J. [Dept. of Radiology, Medical Coll. of Georgia, Augusta, GA (United States)

    2003-04-01

    We describe a case of Rasmussen syndrome in a 7-year-old boy, presenting with epilepsia partialis continua, hemiplegia, and progressive mental deterioration. The initial MRI examination was normal, followed by progressive left hemispheric cortical atrophy and abnormal high signal intensity over the left occipital, parietal, and cingulate gyral areas over an 18-month period. On the basis of the clinical diagnosis and biopsy findings of Rasmussen syndrome, functional hemispherectomy was carried out at 7.5 years of age with alleviation of clinical seizures for the following 44 months. The follow-up MRI demonstrated atrophic changes involving the remaining left hemisphere with increased signal and cortical volume loss, as well as the absence of abnormal signal in the right hemisphere at 10 years of age. Our MRI findings are consistent with the progression of Rasmussen syndrome in the ipsilateral hemisphere even after functional-hemispherectomy without clinical seizures. (orig.)

  1. What is the fate of disconnected brain tissue in a child with Rasmussen syndrome? A case report

    International Nuclear Information System (INIS)

    Kim, S.J.; Park, Y.D.; Pillai, J.

    2003-01-01

    We describe a case of Rasmussen syndrome in a 7-year-old boy, presenting with epilepsia partialis continua, hemiplegia, and progressive mental deterioration. The initial MRI examination was normal, followed by progressive left hemispheric cortical atrophy and abnormal high signal intensity over the left occipital, parietal, and cingulate gyral areas over an 18-month period. On the basis of the clinical diagnosis and biopsy findings of Rasmussen syndrome, functional hemispherectomy was carried out at 7.5 years of age with alleviation of clinical seizures for the following 44 months. The follow-up MRI demonstrated atrophic changes involving the remaining left hemisphere with increased signal and cortical volume loss, as well as the absence of abnormal signal in the right hemisphere at 10 years of age. Our MRI findings are consistent with the progression of Rasmussen syndrome in the ipsilateral hemisphere even after functional-hemispherectomy without clinical seizures. (orig.)

  2. Living with the Diagnosis and Treatment of Leukaemia in a Child with Down's Syndrome: A Mother's Reflection

    Science.gov (United States)

    Self, Donna

    2008-01-01

    In this article I will discuss the impact of my 2-year-old son's diagnosis and treatment of leukaemia. I will outline the background to being told he had leukaemia before describing the family dynamics that emerged during this time for me, my husband and our other child. My story will focus on managing the practicalities of a long stay in hospital…

  3. Doing Education with Business and the Middle Child Syndrome: Promise or Threat to the Community College Mission.

    Science.gov (United States)

    Raisman, Neal A.

    As the "middle child" between universities and K-12 schools, community colleges have often sought to carve out their own niche by embracing programs rejected by other institutions, such as non-collegiate training for business and industry. There has been growing concern, however, over the colleges' shift from a mission that balances…

  4. The Prevalence of Fetal Alcohol Syndrome and Its Impact on a Child's Classroom Performance: A Case Study of a Rural South African School.

    Science.gov (United States)

    Lubbe, Melissa; van Walbeek, Corné; Vellios, Nicole

    2017-08-09

    Alcohol consumption is high among farm labourers in the Western and Northern Cape of South Africa. Excessive alcohol consumption during pregnancy is common, resulting in a high prevalence of Fetal Alcohol Syndrome (FAS) among children. FAS causes intellectual and behavioural problems, which create considerable obstacles to a child's education. The aim of this study is to provide a prevalence estimate of FAS in a rural school and to examine the effects of FAS on learners' educational outcomes. The study was conducted at a farm school near Clanwilliam in the Western Cape of South Africa. The sample comprises 166 learners from Grades 1 to 4. Educational outcomes include class scores (Afrikaans Home Language and Mathematics), reading ability, and classroom behaviour. A physician diagnosed FAS using a three-stage process. We find FAS prevalence of 127 per 1000 (12.7%). Children with FAS score significantly lower (at the 10% level) for home language and behaviour than children who do not have FAS. Large-scale interventions in rural areas of the Western and Northern Cape that specifically target females of child-bearing age, as well aschildren with FAS, are necessary.

  5. 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.

  6. 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

  7. 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.

  8. Probable association of tachyarrhythmia with nebulized albuterol in a child with previously subclinical wolff Parkinson white syndrome

    NARCIS (Netherlands)

    Kroesen, M.; Maseland, M.; Smal, J.; Reimer, A.; van Setten, P.

    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

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

    Science.gov (United States)

    Dimitrova, Nevena; Özçaliskan, Seyda; 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…

  10. A pseudoleukemic blood differentiation in a 13-year-old child: an extraordinary presentation of Churg-Strauss syndrome

    NARCIS (Netherlands)

    Mutsaers, E. R.; Witteveen, R.; van den Bosch-Ruis, W.; Kuijpers, T. W.; van Houten, M. A.; van den Berg, J. M.

    2013-01-01

    Churg-Strauss syndrome (CSS) is a rare systemic vasculitis of the small-and medium-size vessels. It is mostly seen in elderly patients presenting as de novo asthma, eosinophilia, and vasculitic organ involvement. In childhood, CSS is extremely rare. The course of pediatric CSS is usually severe and

  11. Neuropsychological Test Performance Before and After Symptom Removal in a Child With Guilles de la Tourette Syndrome

    Science.gov (United States)

    Sand, Patricia

    1972-01-01

    The Guilles de la Tourette Syndrome, a relatively rare disorder that usually begins in childhood, is characterized by (1) body tics that progress in severity and involvement of face, neck, shoulder, and trunk musculature; (2) repetitive barking or clucking noises; (3) coprolalia, or tic-like repetitive uttering of obscenities. (Author)

  12. Attitudes of Mothers towards Their Child with Down Syndrome before and after the Introduction of Prenatal Diagnosis

    Science.gov (United States)

    Lenhard, Wolfgang; Breitenbach, Erwin; Ebert, Harald; Schindelhauer-Deutscher, H. Joachim; Zang, Klaus D.; Henn, Wolfram

    2007-01-01

    In 1970, before the introduction of prenatal diagnosis of chromosome anomalies, an unpublished questionnaire study concerning the social and emotional situation of mothers of children with Down syndrome was conducted in southern Germany. To assess the psychosocial impact of the availability of prenatal diagnosis on parents of genetically…

  13. Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.

    Science.gov (United States)

    Kondo, Daiki; Noguchi, Atsuko; Tamura, Hiroaki; Tsuchida, Satoko; Takahashi, Ikuko; Kubota, Hiroki; Yano, Tamami; Oyama, Chikako; Sawaishi, Yukio; Moriwaki, Shinichi; Takahashi, Tsutomu

    2016-07-01

    Nucleotide excision repair (NER) is an essential biological pathway protecting against ultraviolet light-induced DNA damage. Deficient NER causes a group of rare genetic disorders including two autosomal recessive diseases, xeroderma pigmentosum (XP) and Cockayne syndrome (CS). In addition to the cutaneous photosensitivity shared in XP and CS, CS is featured by growth failure, neurological deterioration, microcephaly, and deep sunken eyes. XP/CS complex is an extremely rare type of NER disorder with a distinct phenotype that is characterized by the skin and eye pathology of XP and the somatic and neurological abnormalities of CS. Some of CS cases have been reported to be complicated with renal failure, but the genetic background or the etiology of the renal failure has not been reported. We herein report a 1-year-old Japanese boy with XP/CS complex, complicated by nephrotic syndrome. Diagnosis was confirmed by the presence of compound heterozygous mutations, G47R (c.139G>A) and R616G (c.1846C>G), in the excision repair cross-complementation group 2 (ERCC2) gene. The kidney biopsies, performed at the age of 1 year and 2 months, revealed diffuse expansion of the mesangial matrix and segmental glomerulosclerosis under light microscopy, and diffused thin capillary walls with partially lamellated regions under electron microscopy. Notably, high levels of urinary 8-hydroxy-2'-deoxyguanosin, known as an oxidative stress marker, were observed during the clinical course. The patient died at the age of 1 year and 11 months because of renal failure. We suggest the involvement of oxidative stress in the pathogenesis of nephrotic syndrome in NER disorders.

  14. 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...

  15. A New Observation of an Atypical and Severe Variant of the Guillain-Barre Syndrome in a Child

    Science.gov (United States)

    Manel, Véronique; Ville, Dorothée; Javouhey, Etienne; Bordet, Fabienne

    2015-01-01

    Guillain-Barré syndrome is a rare acute polyradiculoneuropathy. Several variants and unusual presentations have been described, particularly in pediatrics. In most cases, making an early diagnosis is challenging due to the treatments that consist in the rapid administration of intravenous immunoglobulin or plasma exchange. The authors present the case of a 7-year-old boy with an atypical and severe axonal Guillain-Barré syndrome, associated with Mycoplasma pneumonia. When he was admitted, febrile respiratory failure was the main focus, and then he presented signs of acute polyneuropathy with cranial nerve palsy and brief hyperreflexia. Mechanical ventilation was required for 48 days as well as 2 cycles of intravenous immunoglobulin. The authors describe all the medical challenges that the authors encountered. This case highlights the fact that respiratory distress can be the main clinical symptom in children. This delays the establishment of a correct diagnosis, even more so when neurological manifestations are abundant and unusual. PMID:28503595

  16. 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 ...

  17. Cholecystitis in a child with acquired immunodeficiency syndrome: ultrasonographic findings in a case of uncommon presentation during childhood

    International Nuclear Information System (INIS)

    Rubi-Palomares, I.; Martinez-Leon, M. I.; Alonso-Usabiaga, I.; Ceres-Ruiz, L.

    2001-01-01

    We present the case of a boy with acquired immunodeficiency syndrome (AIDS) in whom ultrasound revealed the presence of a calculous cholecystitis. Abdominal ultrasound was essential in the initial diagnosis and the assessment of the response to treatment. This entity has rarely been reported in the pediatric radiology literature. In our patient, the cholecystitis may have been caused by infection, and the involvement of regional lymphatic obstruction in the pathogenesis is considered. (Author) 14 refs

  18. The effect of Tourette syndrome on the education and social interactions of a school-age child.

    Science.gov (United States)

    Ohm, Bonnie

    2006-06-01

    Tourette syndrome is a neurological condition characterized by involuntary vocal or motor tics. Symptoms begin occurring before the age of 18 and are more common in boys than girls. Tics can change in severity and character from hour to hour or in stressful situations. Uncontrolled tics can cause self-esteem concerns, family stress, and academic difficulty. Medication and school services were employed to help the student achieve the goal of feeling more comfortable with peers and in the classroom.

  19. Prenatal and Postnatal Sonographic Confirmation of Congenital Absence of the Ductus Venosus in a Child with Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Christopher L. Newman

    2017-01-01

    Full Text Available The ductus venosus serves as an important vascular pathway for intrauterine circulation. This case presents a description of an absent ductus venosus in a female patient with Noonan syndrome, including both prenatal and postnatal imaging of the anomaly. In the setting of the anomalous vascular connection, the umbilical vein courses inferiorly to the iliac vein in parallel configuration with the umbilical artery. This finding was suspected based on prenatal imaging and the case was brought to attention when placement of an umbilical catheter was thought to be malpositioned given its appearance on radiography. Ultrasound imaging confirmed the anomalous course. This is in keeping with prior descriptions in the literature of an association between Noonan syndrome and aberrant umbilical venous drainage. This case illustrates the need for awareness of this condition by the radiologist, allowing for identification on radiographs and the recommendation for further confirmatory imaging. Further, the case illustrates the value of paying particular attention to the fetal course of the umbilical vessels in patients with suspected Noonan syndrome, as this population is particularly at risk for anomalous vasculature.

  20. A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

    Science.gov (United States)

    Scala, Marcello; Accogli, Andrea; De Grandis, Elisa; Allegri, Anna; Bagowski, Christoph P; Shoukier, Moneef; Maghnie, Mohamad; Capra, Valeria

    2018-03-01

    Sheldon-Hall syndrome (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized by congenital non-progressive contractures. Patients with SHS present with contractures of the limbs and a distinctive triangular facies with prominent nasolabial folds. Calcaneovalgus deformity is frequent, as well as camptodactyly and ulnar deviation. Causative mutations in at least four different genes have been reported (MYH3, TNNI2, TPM2, and TNNT3). MYH3 plays a pivotal role in fetal muscle development and mutations in this gene are associated with Freeman-Sheldon syndrome, distal arthrogryposis 8 (DA8), and autosomal dominant spondylocarpotarsal synostosis. The last two disorders are characterized by skeletal abnormalities, in particular bony fusions. The observation that MYH3 may be mutated in these syndromes has suggested the involvement of this gene in bone development. We report the case of a boy with a novel pathogenic MYH3 mutation, presenting with the classical clinical features of SHS in association with unilateral carpal bone fusion and multiple vertebral fusions. This distinctive phenotype has never been reported in the literature so far and expands the phenotypic spectrum of SHS, endorsing the clinical variability of patients with MYH3-related disorders. Our findings also support a role for MYH3 in both muscle and bone development, suggesting a phenotypic continuum in MYH3-related disorders. © 2018 Wiley Periodicals, Inc.

  1. Fiberoptic intubation through laryngeal mask airway for management of difficult airway in a child with Klippel-Feil syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Bhat

    2014-01-01

    Full Text Available The ideal airway management modality in pediatric patients with syndromes like Klippel-Feil syndrome is a great challenge and is technically difficult for an anesthesiologist. Half of the patients present with the classic triad of short neck, low hairline, and fusion of cervical vertebra. Numerous associated anomalies like scoliosis or kyphosis, cleft palate, respiratory problems, deafness, genitourinary abnormalities, Sprengel′s deformity (wherein the scapulae ride high on the back, synkinesia, cervical ribs, and congenital heart diseases may further add to the difficulty. Fiberoptic bronchoscopy alone can be technically difficult and patient cooperation also becomes very important, which is difficult in pediatric patients. Fiberoptic bronchoscopy with the aid of supraglottic airway devices is a viable alternative in the management of difficult airway in children. We report a case of Klippel-Feil syndrome in an 18-month-old girl posted for cleft palate surgery. Imaging of spine revealed complete fusion of the cervical vertebrae with hypoplastic C3 and C6 vertebrae and thoracic kyphosis. We successfully managed airway in this patient by fiberoptic intubation through classic laryngeal mask airway (LMA. After intubation, we used second smaller endotracheal tube (ETT to stabilize and elongate the first ETT while removing the LMA.

  2. Case report: unusual dental morphology in a child with ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.

    LENUS (Irish Health Repository)

    Fitzgerald, K

    2012-02-01

    BACKGROUND: Anomalies of dental anatomy are common in the ectodermal dysplasia syndromes. These anomalies, when found in combination with dental caries, can pose a restorative challenge for the paediatric dentist. Modification of traditional techniques and approaches may help the practitioner provide a successful treatment outcome. CASE REPORT: A 3 years and 11 months old girl with a diagnosis of ankyloblepharon-ectodermal dysplasiacleft lip\\/palate (AEC) syndrome was referred for treatment to a specialist paediatric dental service. Her abnormal dental anatomy, hypodontia and dental caries formed a triad of challenges for the team. Under general anaesthesia, her dentition was restored using a combination of restorative approaches and techniques, including the placement of both composite resin and preformed metal crown restorations. FOLLOW-UP: At 18-month followup, the family had successfully implemented good home care and dietary practices, and the local dental service had instituted a preventive programme consisting of regular examination, advice and fluoride varnish placement. The restorations remained intact and no further caries was detected. At 24-month follow-up, the first permanent molars were partially erupted, and displayed unusually deep fissures. There was also a degree of ectopic eruption of the first permanent molars, and possibly of one of the maxillary permanent incisors. CONCLUSION: Dental care for children with AEC syndrome is optimised by early intervention, good home care and regular professional review. Dental care providers should be aware of the possibility of complex dental anatomy, and bear this in mind should it become necessary to formulate a restorative treatment plan.

  3. 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.

  4. 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.

  5. 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.

  6. Calcified pulmonary thromboembolism in a child with sickle cell disease: value of multidetector CT in patients with acute chest syndrome

    International Nuclear Information System (INIS)

    Staser, Jonathan A.; Alam, Tariq; Applegate, Kimberly

    2006-01-01

    The incidence of pulmonary embolism in children is not clearly known, but is believed to be low. Risk factors for pulmonary thromboembolism include central venous catheter, malignancy, surgery, infection, trauma, and congenital hypercoagulable disorders. Children with sickle cell disease are prothrombotic and are at an increased risk of thromboembolism. The incidence of this event is unknown because these children are often not thoroughly imaged. We report here a case of a calcified pulmonary thromboembolism in a child with sickle cell disease and emphasize the use of multidetector CT in detection of pulmonary thromboembolism in children with sickle cell disease. (orig.)

  7. Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2015-07-01

    Full Text Available We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing. Associated anomalies include abnormal facial features, bilateral finger anomalies, bilateral talipes equinovarus, kyphoscoliosis, hypotonia, high frequency hearing loss. Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle.

  8. Rehabilitation outcomes after combined acute disseminated encephalomyelitis and Guillain-Barré syndrome in a child: a case report.

    Science.gov (United States)

    Korupolu, Radha; Ngo, Thien; Hack, Nawaz; Escott, Edward; Salles, Sara

    2014-01-01

    A 5-year old female presented with acute tetraparesis and areflexia. Initial imaging and cerebrospinal fluid analysis were suggestive of acute disseminated encephalomyelitis (ADEM). Minimal clinical response with intravenous steroids prompted further work up. Limited nerve conduction studies suggested possible acute motor-sensory axonal neuropathy, a rare variant of Guillain-Barré syndrome (GBS). Repeat imaging was compatible with polyradiculopathy indicating concomitance of ADEM and GBS. The patient suffered severe motor deficits and neuropathic pain. Slow but significant functional recovery was noted after intensive inpatient rehabilitation followed by continued rehabilitation via home health services.

  9. Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.

    Science.gov (United States)

    Alexander, Thomas B; McGee, Rose B; Kaye, Erica C; McCarville, Mary Beth; Choi, John K; Cavender, Cary P; Nichols, Kim E; Sandlund, John T

    2016-08-01

    Constitutional mismatch repair deficiency (CMMRD) is a cancer predisposition syndrome associated with a high risk of developing early-onset malignancies of the blood, brain, and intestinal tract. We present the case of a patient with T-lymphoblastic lymphoma at the age of 3 years, followed by Burkitt lymphoma 10 years later. This patient also exhibited numerous nonmalignant findings including café au lait spots, lipomas, bilateral renal nodules, a nonossifying fibroma, multiple colonic adenomas, and a rapidly enlarging pilomatrixoma. The spectrum of malignant and nonmalignant neoplasms in this patient highlights the remarkable diversity, and early onset, of lesions seen in children with CMMRD. © 2016 Wiley Periodicals, Inc.

  10. Embolization of the Systemic Arterial Supply via a Detachable Silicon Balloon in a Child with Scimitar Syndrome

    International Nuclear Information System (INIS)

    Sahin, Sinan; Celebi, Ahmet; Yalcin, Yalim; Saritas, Mustafa; Bilal, Mehmet S.; Celik, Levent

    2005-01-01

    Scimitar syndrome is a rare congenital disorder. It is characterized by partial or total abnormal venous drainage of the right lung into the inferior vena cava, which is often associated with anomalous systemic arterial supply to the right lung, congenital cardiac anomalies, hypoplasia of the right lung and bronchial anomalies. Symptoms depend on the degree of the shunt and severity of the associated anomalies, which determine the treatment. We present a 6-year-old boy who was diagnosed as having the adult form of scimitar syndrome during evaluation for recurrent pulmonary infections, and underwent embolization with a detachable silicon balloon of the anomalous systemic arterial supply from the abdominal aorta to the right lower lung lobe. Successful elective surgery was performed 6 months later, in which right pulmonary veins were directed to the left atrium using a Gore-Tex patch by creating an intra-atrial tunnel. The patient has been symptom-free period during 6 months of follow-up, which supports the idea that recurrent pulmonary infections can be eliminated by embolization of the anomalous arterial supply

  11. 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 ...

  12. The changes in relation of auditory and visual input activity between hemispheres analized in cartographic EEG in a child with hyperactivity syndrome

    Directory of Open Access Journals (Sweden)

    Radičević Zoran

    2015-01-01

    Full Text Available The paper discusses the changes in relations of visual and auditory inputs between the hemispheres in a child with hyperactive syndrome and its effects which may lead to better attention engagement in auditory and visual information analysis. The method included the use of cartographic EEG and clinical procedure in a 10-year-old boy with hyperactive syndrome and attention deficit disorder, who has theta dysfunction manifested in standard EEG. Cartographic EEG patterns was performed on NihonKohden Corporation, EEG - 1200K Neurofax apparatus in longitudinal bipolar electrode assembly schedule by utilizing10/20 International electrode positioning. Impedance was maintained below 5 kΩ, with not more than 1 kΩ differences between the electrodes. Lower filter was set at 0.53 Hz and higher filter at 35 Hz. Recording was performed in a quiet period and during stimulation procedures that include speech and language basis. Standard EEG and Neurofeedback (NFB treatment indicated higher theta load, alpha 2 and beta 1 activity measured in the cartographic EEG which was done after the relative failure of NFB treatment. After this, the NFB treatment was applied which lasted for six months, in a way that when the boy was reading, the visual input was enhanced to the left hemisphere and auditory input was reduced to the right hemisphere. Repeated EEG mapping analysis showed that there was a significant improvement, both in EEG findings as well as in attention, behavioural and learning disorders. The paper discusses some aspects of learning, attention and behaviour in relation to changes in the standard EEG, especially in cartographic EEG and NFB findings.

  13. A pseudoleukemic blood differentiation in a 13-year-old child: an extraordinary presentation of Churg-Strauss syndrome.

    Science.gov (United States)

    Mutsaers, E R; Witteveen, R; van den Bosch-Ruis, W; Kuijpers, T W; van Houten, M A; van den Berg, J M

    2013-03-01

    Churg-Strauss syndrome (CSS) is a rare systemic vasculitis of the small- and medium-size vessels. It is mostly seen in elderly patients presenting as de novo asthma, eosinophilia, and vasculitic organ involvement. In childhood, CSS is extremely rare. The course of pediatric CSS is usually severe and often lethal. We present a case of a 13-year-old girl with a short history of asthma, marked eosinophilia, and multiorgan involvement. The extremely high level of blood eosinophilic granulocytes (51.6 × 10(9)/L) prompted a workup for eosinophilic leukemia before the diagnosis CSS could be made. Subsequently, the disease was successfully treated. This case report shows a classical case of childhood CSS, remarkable because of the presence of extreme hypereosinophilia. It underlines the importance of CSS as a life-threatening cause of hypereosinophilia in children.

  14. Acute development of Cushing syndrome in an HIV-infected child on atazanavir/ritonavir based antiretroviral therapy

    Directory of Open Access Journals (Sweden)

    Gueorgui Dubrocq

    2017-10-01

    Full Text Available An 11-year-old male with perinatally acquired human immune deficiency virus (HIV infection on antiretroviral regimen, which included abacavir plus lamivudine (Epzicom, didanosine, ritonavir and atazanavir presented with bilateral axillary striae, increased appetite, fatigue, facial swelling and acute weight gain. Two months prior to presentation, the patient had received a diagnostic and therapeutic intra-articular triamcinolone injection in the knee for pain relief and subsequently became progressively swollen in the face, developed striae bilaterally at the axillae, experienced increased appetite, fatigue and an 8 pound weight gain. During the endocrine workup, suspicion for adrenal insufficiency prompted 24-h urine collection for free cortisol, which was found to be undetectable (below LLQ of 1.0 μg/L. This prompted further evaluation of the hypothalamic–pituitary axis (HPA by standard dose adrenocorticotropic hormone (ACTH stimulation test. A 250 μg cosyntropin stimulation test was performed and confirmed HPA axis suppression. Baseline cortisol level was <1 μg/dL and stimulated cortisol level at 30 min was 3.8 μg/dL. The patient was diagnosed with iatrogenic Cushing syndrome and suppression of HPA axis secondary to the drug interaction between ritonavir (RTV and intra-articular triamcinolone injection. Following endocrine evaluation and workup, the patient was admitted for planned orthopaedic procedure including elective left hamstring lengthening, distal femoral osteotomy and patellar tendon advancement. Taking into consideration the diagnosis of iatrogenic Cushing syndrome, at the start of the surgical procedure, 100 mg IV stress dose of hydrocortisone followed by 50 mg hydrocortisone every 8 h for 24 h was administered. Stress dosing was discontinued 24 h after the procedure. Throughout the hospitalization and upon discharge, the patient continued his ART. From initial presentation, patient has remained clinically stable throughout

  15. 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 ...

  16. Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype.

    Science.gov (United States)

    Barbi, G; Kennerknecht, I; Wöhr, G; Avramopoulos, D; Karadima, G; Petersen, M B

    2000-03-13

    We report on a mentally retarded child with multiple minor anomalies and an unusually rearranged chromosome 21. This der(21) chromosome has a deletion of 21p and of proximal 21q, whereas the main portion of 21q is duplicated leading to a mirror-symmetric appearance with the mirror axis at the breakpoint. The centromere is only characterized by a secondary constriction (with a centromeric index of a G chromosome) at an unexpected distal position, but fluorescence in situ hybridization (FISH) with either chromosome specific or with all human centromeres alpha satellite DNA shows no cross hybridization. Thus, the marker chromosome represents a further example of an "analphoid marker with neocentromere." Molecular analysis using polymorphic markers on chromosome 21 verified a very small monosomic segment of the proximal long arm of chromosome 21, and additionally trisomy of the remaining distal segment. Although trisomic for almost the entire 21q arm, our patient shows no classical Down syndrome phenotype, but only a few minor anomalies found in trisomy 21 and in monosomy of proximal 21q, respectively. Copyright 2000 Wiley-Liss, Inc.

  17. 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.

  18. Symptoms of post-traumatic stress disorder among battered women in Lebanon: an exploratory study.

    Science.gov (United States)

    Khadra, Christelle; Wehbe, Nancy; Lachance Fiola, Jacinthe; Skaff, Wadih; Nehmé, Mona

    2015-01-01

    Intimate partner violence against women is common in Lebanon and can lead to major health problems. However, the incidence of symptoms of post-traumatic stress disorder (PTSD) in battered women has not been extensively explored in the Lebanese cultural context. The objectives of this study were as follows: (a) to determine the prevalence of PTSD symptoms among women in Lebanon who have been physically abused by their partners, (b) to assess whether the rate of PTSD symptoms varied according to sociodemographic variables, and (c) to reveal other attributes that might be risk factors for developing symptoms of PTSD. Of the 95 physically abused women who met inclusion criteria, 85 completed a questionnaire including sociodemographic questions, the physical abuse subscale of the Composite Abuse Scale (CAS), and the PTSD Checklist-Civilian Version (PCL-C). Results showed a high prevalence of PTSD symptoms (97%), positively correlated with physical violence (r = .719). Lower education level and recent abuse were correlated with symptom severity, as were the number of problematic habitual behaviors in the abusive partner and the use of psychotherapy. Increased involvement of health care professionals in the detection of women at risk, with referral to appropriate resources, is suggested to improve prevention and management efforts. © The Author(s) 2014.

  19. 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.

  20. 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.)

  1. 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.

  2. Infraslow status epilepticus: A new form of subclinical status epilepticus recorded in a child with Sturge-Weber syndrome.

    Science.gov (United States)

    Bello-Espinosa, Luis E

    2015-08-01

    Analysis of infraslow EEG activity (ISA) has shown potential in the evaluation of patients with epilepsy and in the differentiation between focal and generalized epilepsies. Infraslow EEG activity analysis may also provide insights into the pathophysiology of refractory clinical and subclinical status epilepticus. The purpose of this report is to describe a girl with Sturge-Weber syndrome (SWS) who presented with a 96-h refractory encephalopathy and nonischemic hemiparesis and who was identified to have infraslow status epilepticus (ISSE), which successfully resolved after midazolam administration. The continuous EEG recording of a 5-year-old girl with known structural epilepsy due to Sturge-Weber syndrome is presented. The patient presented to the ED with acute confusion, eye deviation, and right hemiparesis similar to two previous admissions. Despite administration of lorazepam, fosphenytoin, phenobarbital, and valproic loads, the patient showed no improvement in the clinical condition after 48 h. The continuous video-EEG monitoring (VEM) showed continuous severe diffuse nonrhythmic asymmetric slowing but no apparent ictal activity on continuous conventional EEG recording settings. As brain CT, CTA, CTV, and complete MRI scans including DWI obtained within 72 h of presentation failed to demonstrate any ischemic changes, analysis of the EEG infraslow (ISA) activity was undertaken using LFF: 0.01 Hz and HFF: of 0.1 Hz, respectively. Continuous subclinical unilateral rhythmic ictal ISA was identified. This was only evident on the left hemisphere which correlated with the structural changes due to SWS. A trial of continuous 120 to 240 μg/kg/h of IV midazolam resulted in immediate resolution of the contralateral hemiparesis and encephalopathy. Continuous prolonged rhythmic ictal infraslow activity (ISA) can cause super-refractory subclinical focal status epilepticus. This has not been previously reported, and we propose that this be called infraslow status

  3. Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.

    Science.gov (United States)

    Passariello, Annalisa; De Brasi, Daniele; Defferrari, Raffaella; Genesio, Rita; Tufano, Maria; Mazzocco, Katia; Capasso, Maria; Migliorati, Roberta; Martinsson, Tommy; Siani, Paolo; Nitsch, Lucio; Tonini, Gian Paolo

    2013-11-01

    Constitutional 11q deletion is a chromosome imbalance possibly found in MCA/MR patients analyzed for chromosomal anomalies. Its role in determining the phenotype depends on extension and position of deleted region. Loss of heterozygosity of 11q (region 11q23) is also associated with neuroblastoma, the most frequent extra cranial cancer in children. It represents one of the most frequent cytogenetic abnormalities observed in the tumor of patients with high-risk disease even if germline deletion of 11q in neuroblastoma is rare. Hereby, we describe a 18 months old girl presenting with trigonocephaly and dysmorphic facial features, including hypotelorism, broad depressed nasal bridge, micrognathia, synophrys, epicanthal folds, and with a stage 4 neuroblastoma without MYCN amplification, carrying a germline 11q deletion (11q14.1-q22.3), outside from Jacobsen syndrome and from neuroblastoma 11q critical regions. The role of 11q deletion in determining the clinical phenotype and its association with neuroblastoma development in the patient are discussed. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  4. Posterior reversible encephalopathy syndrome in IgA vasculitis: Neuroimaging of a 14-year-old child.

    Science.gov (United States)

    Arslan, Harun; Yavuz, Alpaslan; Arslan, Ayşe; Aycan, Abdurrahman

    IgA vasculitis (IgAV) is a leukocytoclastic vasculitis and characterized by involvement of small vessels in skin, gastrointestinal system, joints, kidneys, and less frequently other organs. It is the commonest vasculitis in childhood and etiology is not completely known. Neurological manifestations of IgAV are very rare and usually seen in patients with severe hypertension or as an uncommon feature such as peripheral neuropathy. Posterior reversible encephalopathy syndrome (PRES) is a clinic-radiologic entity characterized with temporary vasogenic edema developing typically in posterior circulation of the brain and has been reported as a rare manifestation of IgAV. In this paper, a PRES case of 14-year-old male with IgAV is reported and etiopathogenesis was discussed with literature. Diagnosis was made by magnetic resonance imaging because of the existence of neurological symptoms (headache and visual loss) during the course of disease. His radiological findings have resolved with therapy. Although neurological involvement is a rare manifestation in IgAV, we recommend magnetic resonance imaging in such patients for diagnosis and evaluation of complications. Copyright © 2017. Published by Elsevier Urban & Partner Sp. z o.o.

  5. 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

  6. 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

  7. Analysis of the processes of inclusion, development and learning of a child with Down Syndrome enrolled in the common school

    Directory of Open Access Journals (Sweden)

    Jacqueline da Silva

    2011-10-01

    Full Text Available This research was conducted in a private school in the city of Barbacena-MG, Brazil, during 2010. We observed a student with Down syndrome, nine years, enrolled in the 2nd year of elementary school, seeking to understand the process of educational inclusion and the organizational and teaching strategies that influence his development and learning. Was also analyzed his cognitive, socio-emotional and psychomotor performance, in addition to the interaction between family and school. This case-study was characterized as qualitative and ethnographic in which was used the technique of participant observation. The active family participation in the student educational process, along with the interaction promoted by the school in its activities, made him reach a satisfactory level of development. The student showed good memory, could read both words in cursive as with capital letters and solve addition and subtraction when used concrete materials. We realized, therefore, that he is progressing at his own pace. However, it would require that the school had adopted activities directed and specified to him as well as measures of relaxation and streamlining of the curriculum, evaluating the student in a procedural approach. However he was valued by qualifying, which resulted in the retention of student in the same grade. We conclude therefore, that the pedagogical structuring and review of practices and evaluation methods in educational institutions may be necessary to ensure that best addresses the specific characteristics and necessities of the students, making no exception occurs in an environment that thinks be promoter of the inclusion.

  8. Adipokines, insulin resistance, and adiposity as a predictors of metabolic syndrome in child survivors of lymphoma and acute lymphoblastic leukemia of a developing country.

    Science.gov (United States)

    Barbosa-Cortés, Lourdes; López-Alarcón, Mardia; Mejía-Aranguré, Juan Manuel; Klünder-Klünder, Miguel; Del Carmen Rodríguez-Zepeda, María; Rivera-Márquez, Hugo; de la Vega-Martínez, Alan; Martin-Trejo, Jorge; Shum-Luis, Juan; Solis-Labastida, Karina; López-Aguilar, Enrique; Matute-González, Guadalupe; Bernaldez-Rios, Roberto

    2017-02-13

    There is a growing body of evidence indicating that pediatric survivors of cancer are at a greater risk of developing metabolic syndrome. This study evaluated some probable predictors of metabolic syndrome (MS), such as leptin and adiponectin concentrations, the leptin/adiponectin ratio, insulin resistance, and adiposity, in a sample of child survivors of lymphoma and leukemia in Mexico City. Fifty two children (leukemia n = 26, lymphoma n = 26), who were within the first 5 years after cessation of therapy, were considered as eligible to participate in the study. Testing included fasting insulin, glucose, adipokines and lipids; body fat mass was measured by DXA. The MS components were analyzed according to tertiles of adipokines, insulin resistance, and adiposity. Comparisons between continuous variables were performed according to the data distribution. The MS components were analyzed according to tertiles of adipokines, insulin resistance, and adiposity. With the purpose of assessing the risk of a present MS diagnosis, odds ratios (OR) with a 95% confidence interval (95% IC) were obtained using logistic regression analysis according to the various metabolic markers. The median children age was 12.1 years, and the interval time from the completion of therapy to study enrollment was 4 years. Among the MS components, the prevalence of HDL-C low was most common (42%), followed by central obesity (29%). The HOMA-IR (OR 9.0, 95% CI 2.0; 41.1), body fat (OR 5.5, 95% CI 1.6; 19.3), leptin level (OR 5.7, 95% CI 1.6; 20.2) and leptin/adiponectin ratio (OR 9.4, 95% CI 2.0; 49.8) in the highest tertile, were predictive factors of developing MS; whereas the lowest tertile of adiponectin was associated with a protective effect but not significant. Biomarkers such as HOMA-IR, leptin and leptin/adiponectin are associated with each of the components of the MS and with a heightened risk of suffering MS among children survivors of cancer. Given the close relationship

  9. 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.

  10. Substance abuse and batterer programmes in California, USA: factors associated with treatment outcomes.

    Science.gov (United States)

    Timko, Christine; Valenstein, Helen; Stuart, Gregory L; Moos, Rudolf H

    2015-11-01

    The association between substance abuse and intimate partner violence is quite robust. A promising area to improve treatment for the dual problems of substance abuse and violence perpetration is the identification of client characteristics and organisational and programme factors as predictors of health outcomes. Therefore, we examined associations of client, organisational and programme factors with outcomes in community health settings. Directors of 241 substance use disorder programmes (SUDPs) and 235 batterer intervention programmes (BIPs) reported outcomes of programme completion and substance use and violence perpetration rates at discharge; data collection and processing were completed in 2012. SUDPs having more female, non-white, younger, uneducated, unemployed and lower income clients reported lower completion rates. In SUDPs, private, for-profit programmes reported higher completion rates than public or private, non-profit programmes. SUDPs with lower proportions of their budgets from government sources, and higher proportions from client fees, reported better outcomes. Larger SUDPs had poorer programme completion and higher substance use rates. Completion rates in SUDPs were higher when clients could obtain substance- and violence-related help at one location, and programmes integrated violence-prevention contracting into care. In BIPs, few client, organisational and programme factors were associated with outcomes, but the significant factors associated with programme completion were consistent with those for SUDPs. Publicly owned and larger programmes, and SUDPs lacking staff to integrate violence-related treatment, may be at risk of poorer client outcomes, but could learn from programmes that perform well to yield better outcomes. © 2014 John Wiley & Sons Ltd.

  11. 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.

  12. 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

  13. Child slavery and child labour

    OpenAIRE

    McKinney, Stephen J.; Hill, R.J.; Hania, Honor

    2015-01-01

    Child slavery and child labour deny children their God-given dignity and freedom, and their right to education. Catholic Social Teaching is unequivocal in resolute condemnation of child slavery and child labour, in all of their forms.

  14. 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...

  15. 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.

  16. 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 ...

  17. 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)

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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

  3. 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.

  4. 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...

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

    OpenAIRE

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

    2013-01-01

    Background 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). Case presentation 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 di...

  6. 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.

  7. 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.

  8. 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 ...

  9. Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature

    NARCIS (Netherlands)

    Trier, D.C. van; Feenstra, I.; Bot, P.; Leeuw, N. de; Draaisma, J.M.T.

    2013-01-01

    Individuals with the 18q deletion syndrome are presented with various clinical characteristics, including cardiac anomalies in 24-36% of the reported cases. Nonetheless, genotype-phenotype correlations for cardiac anomalies in the 18q deletion syndrome have rarely been reported. We report on two

  10. Preschool psychopathology reported by parents in 23 societies: testing the seven-syndrome model of the child behavior checklist for ages 1.5-5

    DEFF Research Database (Denmark)

    Ivanova, Masha Y; Achenbach, Thomas M; Rescorla, Leslie A

    2010-01-01

    To test the fit of a seven-syndrome model to ratings of preschoolers' problems by parents in very diverse societies.......To test the fit of a seven-syndrome model to ratings of preschoolers' problems by parents in very diverse societies....

  11. 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.

  12. 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.

  13. From Blue to Green: The Development and Implementation of a Therapeutic Horticulture Program for Residents of a Battered Women's Shelter.

    Science.gov (United States)

    Renzetti, Claire M; Follingstad, Diane R

    2015-01-01

    The delivery of therapeutic services to clients is influenced by service providers' understanding of the "fit" of a specific program with their service mandate as well as their perceptions of the potential benefits of the program. This article discusses the development and implementation of a therapeutic horticulture (TH) program at a battered women's shelter that serves 17 counties in Central Kentucky. Through semistructured interviews, we gauge the shelter staff's perceptions of the relationship of the TH program to the shelter's overall mission; their sense of the program's benefits for residents, for the shelter as a community organization, and for themselves; and their concerns about the TH program. We consider how these findings may impact future programming at the shelter, and we discuss plans for further evaluation of the TH program in terms of its impact on shelter residents' long-term outcomes.

  14. Motivations for intimate partner violence in men and women arrested for domestic violence and court referred to batterer intervention programs

    Science.gov (United States)

    Elmquist, JoAnna; Hamel, John; Shorey, Ryan C.; Labrecque, Lindsay; Ninnemann, Andrew; Stuart, Gregory L.

    2014-01-01

    Research has attempted to elucidate men and women’s proximal motivations for perpetrating intimate partner violence (IPV). However, previous research has yet to clarify and resolve contention regarding whether motives for IPV are gender-neutral or gender specific. Thus, the purpose of this present study was to compare motives for physical IPV perpetration among a sample of men (n =90) and women (n =87) arrested for domestic violence and court-referred to batterer intervention programs. Results demonstrated that the most frequently endorsed motives for IPV by both men and women were self-defense, expression of negative emotions, and communication difficulties. With the exception of expression of negative emotions and retaliation, with women endorsing these motives more often than men, there were no significant differences between men and women’s self-reported reasons for perpetrating physical aggression. The implications of these findings for future research and intervention programs are discussed. PMID:25332752

  15. Development and standard of batter slope monitoring by means of simple telemetering. Entwicklung und Stand von Boeschungsbeobachtungen mittels einfacher Distanzmessungen

    Energy Technology Data Exchange (ETDEWEB)

    Duddek, H

    1990-11-01

    In the search for mainly automatic measuring techniques that furnish real-time areal data on deformations in marginal batters of opencast workings, it was decided inter alia to adopt the technique of direct linear measurement across the workings at the brown coal opencast mines in the Rhineland. The present paper describes the development of this technique from the use of instruments which initially were operated manually to the introduction of automatic measuring stations. The successful application of this technique in all the opencast workings in the Rhineland brown coal mining area is discussed. Since the accuracy obtained in electro-optical telemetering depends to a large extent on the meteorological conditions, it can hardly be increased with the instruments at present available. Hence, it is essential that two-colour telemeters which are perfected for field-work and are not refraction-prone should be developed. (orig.).

  16. 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.

  17. Elevated levels of antibodies against phosphatidylserine/prothrombin complex and/or cardiolipin associated with infection and recurrent purpura in a child: a forme fruste of antiphospholipid syndrome?

    Science.gov (United States)

    Kinoshita, Yuri; Mayumi, Nobuko; Inaba, Motoyuki; Igarashi, Touru; Katagiri, Ichigen; Kawana, Seiji

    2015-07-15

    Antiphospholipid syndrome is an autoimmune disorder characterized by the occurrence of venous and arterial thrombosis, as well as morbidity in pregnancy, in the presence of anti-phospholipid antibodies. The diagnosis of antiphospholipid syndrome is usually established based on clinical and laboratory findings by strictly following the 2006 Sapporo classification. However, the diagnosis remains challenging owing to the ongoing debates on the serological criteria. We report a case we describe as forme fruste antiphospholipid syndrome in which these criteria were not fulfilled. Purpura appeared repeatedly in a female infant starting from the age of 6 months and following episodes of upper respiratory infections and vaccinations. The levels of anti-cardiolipin IgG antibodies and anti-phosphatidylserine/prothrombin complex antibodies were elevated in accordance with these events. Histopathological evaluation revealed multiple small vessel thrombi in the dermis and adipose tissue. After 2 weeks of treatment with aspirin and heparin, the cutaneous symptoms subsided. Infection has long been associated with antiphospholipid syndrome, and anti-phosphatidylserine/prothrombin antibodies are considered a new marker for the diagnosis of antiphospholipid syndrome. Forme fruste antiphospholipid syndrome should be considered even if the antiphospholipid syndrome diagnostic criteria are not completely fulfilled, especially in the presence of elevated levels of anti-phosphatidylserine/prothrombin antibodies and known preceding infections.

  18. Pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis in a child with 711+G>T/IVS8-5T mutation: a new face of an old disease.

    Science.gov (United States)

    Tinsa, Faten; Hadj Fredj, Sondes; Bel Hadj, Imen; Khalsi, Fatma; Abdelhak, Sonia; Boussetta, Khadija; Messaoud, Taieb

    2017-08-01

    Pseudo-Bartter syndrome (PBS) describes an uncommon complication of cystic fibrosis leading to hypochloraemic, hypokalaemic metabolic alkalosis. PBS as the sole manifestation of cystic fibrosis in children is extremely rare and has never been described in patients carrying 5T variant. We report a clinical, biochemical and genetic study of a four year-old boy presenting a pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis. All 27 exons and the flanking intron regions of the CFTR gene were analysed by PCR and direct sequencing. Direct sequencing was also used to analyse TG m T n and M470V polymorphisms in the patient and his parents. Two sweat tests were abnormal with elevated chloride levels at 78 and 88 mmol/L. DNA sequencing revealed a heterozygous mutation 711+1 G>T and an IVS8-T5 allele. The mutation 711+1 G>T is in trans with the IVS8-T5-TG11 allele and the child carried M470/V470 genotype. To the best of our knowledge, the genotype 711+1 G>T /IVS8-5T found in our patient is described for the first time. The role of TG11-5T-V470 allele in cases of cystic fibrosis with PB syndrome remains to be determined.

  19. A Rare Form of Guillan Barre Syndrome: A Child Diagnosed with Anti-GD1a and Anti-GD1b Positive Pharyngeal-Cervical-Brachial Variant

    OpenAIRE

    Uysalol, Metin; Tatlı, Burak; Uzel, Nedret; Çıtak, Agop; Aygün, Erhan; Kayaoğlu, Semra

    2013-01-01

    Background: Pharyngeal-cervical-brachial (PCB) variant is a rare form of Guillan-Barre Syndrome (GBS). Antibodies against other membrane proteins like GM1b and GD1a have been found only in a small number of patients with Guillan Barre syndrome variant. Case Report: Here, we report a 5.5 year-old boy diagnosed early with positive GD1a and GD1b gangliosides of Guillan-Barre syndrome pharyngeal cervical-Brachial variant, who improved and recovered fully in a short period. This is in co...

  20. A Rare Form of Guillan Barre Syndrome: A Child Diagnosed with Anti-GD1a and Anti-GD1b Positive Pharyngeal-Cervical-Brachial Variant

    OpenAIRE

    Uysalol, Metin; Tatlı, Burak; Uzel, Nedret; Çıtak, Agop; Aygün, Erhan; Kayaoğlu, Semra

    2014-01-01

    Background: Pharyngeal-cervical-brachial (PCB) variant is a rare form of Guillan-Barre Syndrome (GBS). Antibodies against other membrane proteins like GM1b and GD1a have been found only in a small number of patients with Guillan Barre syndrome variant. Case Report: Here, we report a 5.5 year-old boy diagnosed early with positive GD1a and GD1b gangliosides of Guillan-Barre syndrome pharyngeal cervical-Brachial variant, who improved and recovered fully in a short period. This is in cont...