1,121 results match your criteria: "CHILD Syndrome"

Aims: This study is the first to systematically document histological features of fractures of known age in infants (≦12 months). It has been used to develop a tabulated database specifically to guide histopathologists to age fractures in children considered to have suffered accidental or non-accidental injury (NAI). Currently in the United Kingdom there are insufficient pathologists with experience in histological ageing of fractures to meet the medicolegal need for this examination.

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Introduction: Radiographers are well placed to flag non accidental injury in children due to their unique position within the imaging chain. Being able to identify (or suspect) physical abuse in children and reporting the incident are, however, two different issues. This study was conducted to explore the external influences in the decision making of the Ghanaian radiographer to report suspected child physical abuse (CPA).

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Objective: We examined if ADHD Combined Type or Presentation (ADHD-C) reduced estimated life expectancy (ELE) at young adulthood and if the persistence of ADHD to adulthood further adversely affected ELE.

Method: A young adult follow-up of 131 hyperactive and 71 control cases was used to derive 14 variables that were entered into a life expectancy calculator to generate ELE scores. Both ratings of executive function (EF) in everyday life and tests of EF and IQ were measured along with comorbid psychopathologies.

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Risk factors for avoidable transfer to a pediatric trauma center among patients 2 years and older.

J Trauma Acute Care Surg

January 2019

From the Division of Pediatric Surgery (C.W.S., J.D.K., P.D.D., N.M.C.), Johns Hopkins All Children's Hospital, St. Petersburg; College of Public Health (E.E.P.), and Division of Trauma and Acute Care Surgery (D.J.C.), University of South Florida, Tampa, Florida.

Background: Effective and sustainable pediatric trauma care requires systems of regionalization and interfacility transfer. Avoidable transfer, also known as secondary overtriage, occurs when a patient is transferred to a regional trauma center after initial evaluation at another facility that is capable of providing definitive care. The purpose of this study was to identify risk factors for avoidable transfer among pediatric trauma patients in southwest Florida.

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Background: Nonaccidental trauma (NAT) is a leading cause of injury and death in early childhood. We sought to understand the association between insurance status and mortality in a national sample of pediatric NAT patients.

Materials And Methods: We performed a retrospective cohort study using the 2012-2014 National Trauma Databank.

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Importance: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders caused by defects in signaling pathways involved in epidermal proliferation and differentiation, leading to a wide range of skin manifestations. Therapeutic options are limited and often unsatisfactory. Topical cholesterol and statin as a combined formulation has proven successful in the treatment of patients with CHILD syndrome (congenital hemidysplasia ichthyosis and limb defects).

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Epidermal Nevi and Related Syndromes -- Part 1: Keratinocytic Nevi.

Actas Dermosifiliogr (Engl Ed)

October 2018

Servicio de Dermatología, Hospital de Manacor, Mallorca, Islas Baleares, España.

Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in genetics have contributed to better characterization of these lesions and an improved understanding of their relationship with certain extracutaneous manifestations. In the first part of this review article, we will look at nevi derived specifically from the epidermis and associated syndromes.

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Violence against children has been until now recognised as physical aggression escalating from corporal punishment, hard physical labour to homicide. Nowadays child abuse is considered as maltreatment occurring in four different aspects: physical abuse, psychological abuse, sexual abuse and neglect. Child abuse is difficult to disclose, as it is concealed both by the perpetrators and the victims.

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Femur shaft fractures in infants are rare and associated with abuse or fall from heights. The fracture is often easy to recognize on X-ray, however, the determination of the indication can be difficult. It is important to pay attention to pain signals from the extremity and the objective findings, such as a swollen and tight thigh.

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Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X-linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase-like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function, resulting in the phenotype seen in CHILD syndrome. Symptomatic treatment using emollients and retinoids to reduce scaling has long been used until recently, whereby new therapeutic means based on the pathogenesis-targeted therapy have been developed.

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Background: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder characterized by peculiar cutaneous presentations and ipsilateral skeletal abnormalities. CHILD syndrome is caused by mutations in NSDHL gene, which involves in cholesterol synthesis.

Objectives: To verify the diagnosis of CHILD syndrome and seek effective pathogenesis-based therapy with little side-effects.

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We report a case of nonaccidental trauma (NAT) involving a 23-month-old boy who presented with seizures, acute subarachnoid hemorrhage, and acute subdural hemorrhage. Ophthalmologic examination showed bilateral intraretinal hemorrhages. Further evaluation revealed that he had bilateral thoracolumbar paravertebral calcifications.

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Aim: The validity of the diagnostic criteria for abusive head trauma (AHT) and its attributes has been widely debated. This national study investigated the possibility of false-positive and false-negative cases of fatal AHT in Sweden.

Method: This was a retrospective evaluation of the records of 733 deceased infants up to the age of 365 days who were examined during 1994-2013 at the six forensic medicine departments.

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The frequency of nonaccidental trauma in children under the age of 3 years with femur fractures: is there a better cutoff point for universal workups?

J Pediatr Orthop B

July 2018

Division of Pediatric Orthopaedic Surgery, Rainbow Babies and Children's Hospital, University Hospitals Cleveland Medical Center, Case Western Reserve University, Cleveland, Ohio, USA.

The purpose of this study was to evaluate narrower age groups in children aged 0-4 years to determine whether guidelines should be refined when investigating femur fractures for nonaccidental trauma (NAT). This was a retrospective review of the pediatric trauma database at our level 1 pediatric trauma center. The database was examined from 2009 to present.

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Significant barriers exist in access to evidence-based, trauma-focused treatment among youth from economically disadvantaged backgrounds, those living in rural areas, and belonging to a racial and ethnic minority group, despite the high prevalence rates of trauma exposure among these underserved groups. The present study is proof-of-concept pilot of trauma-focused cognitive-behavioral therapy (TF-CBT) delivered to underserved trauma-exposed youth ( N = 15) via telehealth technology (i.e.

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Background: Childhood interstitial lung disease (chILD) represents a rare heterogeneous group of respiratory disorders. In the absence of randomized controlled clinical trials, global collaborations have utilized case series with an aim to standardising approaches to diagnosis and management. Australasian data are lacking.

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In heterozygous females affected by an X-linked skin disorder, lesions often appear in a characteristic pattern, the so-called Blaschko's lines. We investigated a female Labrador Retriever and her crossbred daughter, which both showed similar clinical lesions that followed Blaschko's lines. The two male littermates of the affected daughter had died at birth, suggesting a monogenic X-chromosomal semidominant mode of inheritance.

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Introduction: Child abuse, also known as nonaccidental trauma (NAT), is an important cause of pediatric morbidity and mortality. The presentation of NAT is often confounded by unclear histories and victims who are unable to provide information. Medical students and trainees may fail to consider NAT as a diagnosis or be unfamiliar with the evaluation process.

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Cutaneous adverse drug reactions are among the most common noninfectious rashes of childhood. Cutaneous adverse drug reactions are classified as morbilliform, urticarial, bullous, pustular, or psoriasiform. Atopic dermatitis is one of the most common inflammatory cutaneous eruptions, and is characterized by pruritus and flexural distribution.

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Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant and male-lethal multi-system disorder characterized by congenital hemidysplasia, strictly lateralized ichthyosiform nevus and ipsilateral limb defects. CHILD syndrome is caused by mutations of nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein (NSDHL) gene mapped to chromosome Xq28. The gene encodes 3β-hydroxylsterol dehydrogenase, which catalyses a step in the cholesterol biosynthetic pathway.

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Fracture and Nonaccidental Injury: A Case Report of a Lateral Condylar Fracture in a 13 Month Old.

Pediatr Emerg Care

December 2016

From the Departments of Paediatrics and Surgery, Schulich School of Medicine and Dentistry at Western University, Children's Hospital at London Health Sciences Centre, London, Ontario, Canada.

Article Synopsis
  • - Pediatric nonaccidental injury (NAI) is often encountered in medical settings, particularly by emergency and primary care physicians, who are usually the first to assess these cases.
  • - Failure to recognize NAI can lead to serious consequences, including a 35% risk of further injury and a 5% to 10% risk of death, making careful evaluation critical for infants and young children.
  • - A case is presented involving a lateral condylar fracture in a 13-month-old child, which is not a typical fracture associated with NAI, highlighting the need for awareness of unusual injury patterns.
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Only child syndrome in snakes: Eggs incubated alone produce asocial individuals.

Sci Rep

October 2016

Station d'Ecologie Théorique et Expérimentale, CNRS, UMR 5321, 09200 Moulis, France.

Egg-clustering and communal nesting behaviours provide advantages to offspring. Advantages range from anti-predatory benefits, maintenance of moisture and temperature levels within the nest, preventing the eggs from rolling, to enabling hatching synchrony through embryo communication. It was recently suggested that embryo communication may extend beyond development fine-tuning, and potentially convey information about the quality of the natal environment as well as provide an indication of forthcoming competition amongst siblings, conspecifics or even heterospecifics.

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