1,048 results match your criteria CHILD Syndrome


A four-year-old Nigerian boy with battered child syndrome: implications for public health.

Pan Afr Med J 2020 18;35:47. Epub 2020 Feb 18.

Department of Pediatrics, Federal Medical Centre, Katsina, Katsina State, Nigeria.

Battered child syndrome (BCS) is a form of physical abuse that is characterised by multiple injuries and potentially fatal outcome. Despite the high prevalence of physical abuse in developing countries, BCS is rarely reported. Hence, this report highlighted a four-year-old Nigerian boy who suffered multiple injuries (scalp haematoma, bruises, right clavicular fracture, and burns) from the paternal uncle's wife. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.11604/pamj.2020.35.47.19115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250214PMC
February 2020

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.

Mol Genet Genomic Med 2020 Jun 18;8(6):e1173. Epub 2020 Apr 18.

Victorian Clinical Genetics Services, The Royal Children's Hospital, Melbourne, VIC, Australia.

Background: Greenberg dysplasia is a rare, autosomal recessive, prenatal lethal bone dysplasia caused by biallelic pathogenic variants in the lamin B receptor (LBR) gene. Pathogenic variants in LBR are also associated with Pelger-Huët anomaly, an autosomal dominant benign abnormality of the nuclear shape and chromatin organization of blood granulocytes, and Pelger-Huët anomaly with variable skeletal anomalies, a mild, regressing to moderate-severe autosomal recessive condition. Conditions with abnormal sterol metabolism and different genetic basis have clinical and radiographic features similar to Greenberg dysplasia, for example X-linked dominant chondrodysplasia punctata, Conradi-Hünermann type, and CHILD syndrome, and other conditions with unknown genetic etiology display very similar features, for example, dappled diaphyseal dysplasia and Astley-Kendall dysplasia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.1173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284023PMC

An excellent response to topical therapy of four congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome patients with an increased concentration of simvastatin ointment.

J Eur Acad Dermatol Venereol 2020 Jan 1;34(1):e8-e11. Epub 2019 Oct 1.

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jdv.15838DOI Listing
January 2020
4 Reads

CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion.

An Bras Dermatol 2019 Jul 26;94(3):341-343. Epub 2019 Jul 26.

Department of Dermatology, Hospital das Clínica, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

CHILD syndrome (Congenital Hemidysplasia, Ichthyosiform erythroderma, Limb Defects) is a rare X-linked dominant disease. The authors report a 2-month-old patient presenting with typical features of CHILD syndrome that was treated with a topical solution containing cholesterol and lovastatin, with complete clearance of her CHILD nevus. The changes in skin lipid metabolism that explain the CHILD ichthyosiform nevus and their correction through topical application of cholesterol and lovastatin are discussed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/abd1806-4841.20198789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668949PMC
July 2019
2 Reads

Vulnerable Child Syndrome.

Authors:
Kristine Schmitz

Pediatr Rev 2019 Jun;40(6):313-315

St Christopher's Hospital for Children/Drexel University College of Medicine, Philadelphia, PA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/pir.2017-0243DOI Listing
June 2019
3 Reads

Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma.

Oral Surg Oral Med Oral Pathol Oral Radiol 2019 Jul 23;128(1):60-69. Epub 2019 Feb 23.

Departments of Oral and Craniofacial Health Sciences and Dental Ecology, UNC School of Dentistry, Chapel Hill, NC, USA; Lineberger Comprehensive Cancer Center, UNC School of Medicine, Chapel Hill, NC, USA. Electronic address:

Objective: The aim of this study was to perform a systematic analysis of the nicotinamide adenine dinucleotide phosphate (NAD[P])-dependent steroid dehydrogenase-like (NSDHL) gene in cases of oral verruciform xanthoma (VX) and to test for the presence of mutations associated with congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome.

Study Design: DNA was extracted from archived paraffin-embedded tissue of oral VX and control cases. Polymerase chain reaction (PCR) was then used to screen exons 4 and 6 of the NSDHL gene for the presence of 4 known germline mutations associated with CHILD syndrome and 1 somatic mutation previously identified in VX lesions with no known association with CHILD syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.oooo.2019.02.015DOI Listing
July 2019
10 Reads

Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.

Am J Med Genet A 2019 07 29;179(7):1315-1318. Epub 2019 Apr 29.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

X-linked dominant chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome, CDPX2) caused by mutations in the emopamil-binding protein (EBP) gene and congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome caused by mutation in the NAD(P)H steroid dehydrogenase-like (NSDHL) gene are rare, typically male lethal disorders. CDPX2 skin lesions are characterized by transient severe congenital ichthyosis following the lines of Blaschko, whereas in CHILD syndrome, the lesions show striking lateralization. Here, we report a male CDPX2 patient with postzygotic mosaicism of the EBP gene presenting with lateralized skin lesions with strict midline demarcation as seen in CHILD syndrome (although this diagnosis was ruled out based on analysis of NSDHL), but also partly distributed along Blaschko's lines as seen in CDPX2. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61159DOI Listing
July 2019
8 Reads

Whole-Body MRI in Children and Adolescents - S1 Guideline.

Rofo 2019 Jul 21;191(7):618-625. Epub 2019 Mar 21.

Section of Paediatric Radiology, Institute of Diagnostic and Interventional Radiology, University Hospital Jena, Jena, Germany.

Whole-body MRI is an imaging method that uses advanced modern MRI equipment to provide high-resolution images of the entire body. The goal of these guidelines is to specify the indications for which whole-body MRI can be recommended in children and adolescents and to describe the necessary technical requirements. CITATION FORMAT: · Schaefer JF, Berthold LD, Hahn G et al. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/a-0832-2498DOI Listing
July 2019
5 Reads

Histological ageing of fractures in infants: a practical algorithm for assessing infants suspected of accidental or non-accidental injury.

Histopathology 2019 Jul 29;75(1):74-80. Epub 2019 Apr 29.

School of Biological Sciences, University of Manchester, Manchester, UK.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/his.13850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6618162PMC

Behavioural beliefs of Ghanaian radiographers and reporting of child physical abuse.

Radiography (Lond) 2019 02 9;25(1):51-57. Epub 2018 Nov 9.

School of Nursing, University of Ghana, Ghana.

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). Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10788174183021
Publisher Site
http://dx.doi.org/10.1016/j.radi.2018.10.002DOI Listing
February 2019
17 Reads

Hyperactive Child Syndrome and Estimated Life Expectancy at Young Adult Follow-Up: The Role of ADHD Persistence and Other Potential Predictors.

J Atten Disord 2019 07 10;23(9):907-923. Epub 2018 Dec 10.

2 Associated Mental Health Consultants, Wauwatosa, WI, USA.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1087054718816164DOI Listing
July 2019
9 Reads

Mild clinical presentation of a patient with a mutation in the NSDHL gene.

Clin Exp Dermatol 2019 Jun 28;44(4):456-458. Epub 2018 Nov 28.

Bristol Dermatology Department, Bristol Royal Infirmary, Bristol, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ced.13845DOI Listing

Not lost to follow-up: A rare case of CHILD syndrome in a boy reappears.

JAAD Case Rep 2018 Nov 9;4(10):1010-1013. Epub 2018 Nov 9.

Department of Dermatology, the University of California, Irvine, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jdcr.2018.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232698PMC
November 2018
15 Reads

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

J Trauma Acute Care Surg 2019 01;86(1):92-96

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/TA.0000000000002087DOI Listing
January 2019
4 Reads

Insurance status and pediatric mortality in nonaccidental trauma.

J Surg Res 2018 11 17;231:126-132. Epub 2018 Jun 17.

Department of Surgery, University of Texas Southwestern, Dallas, Texas.

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. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00224804183033
Publisher Site
http://dx.doi.org/10.1016/j.jss.2018.05.033DOI Listing
November 2018
4 Reads

Use of Topical Glycolic Acid Plus a Lovastatin-Cholesterol Combination Cream for the Treatment of Autosomal Recessive Congenital Ichthyoses.

JAMA Dermatol 2018 11;154(11):1320-1323

Department of Dermatology, American University of Beirut, Beirut, Lebanon.

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). Read More

View Article

Download full-text PDF

Source
http://archderm.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamadermatol.2018.2904DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6248126PMC
November 2018
50 Reads

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

Actas Dermosifiliogr 2018 Oct 6;109(8):677-686. Epub 2018 Jul 6.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ad.2018.05.005DOI Listing
October 2018
16 Reads

Battered child syndrome in the records of the Department of Forensic Medicine, Medical University of Białystok.

Arch Med Sadowej Kryminol 2017;67(3):153-165

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5114/amsik.2017.73190DOI Listing
August 2019
12 Reads

[Femur shaft fractures in infants should be considered despite no known trauma].

Ugeskr Laeger 2018 02;180(6)

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. Read More

View Article

Download full-text PDF

Source
February 2018
9 Reads

CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.

Am J Med Genet A 2018 03 2;176(3):733-738. Epub 2018 Feb 2.

Department of Dermatology, American University of Beirut, Beirut, Lebanon.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38619DOI Listing
March 2018
12 Reads

CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol.

J Eur Acad Dermatol Venereol 2018 Jul 1;32(7):1209-1213. Epub 2018 Feb 1.

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jdv.14788DOI Listing
July 2018
8 Reads

Paravertebral calcification as a potential indicator for nonaccidental trauma.

J Radiol Case Rep 2017 Jul 31;11(7):8-13. Epub 2017 Jul 31.

Department of Radiology, College of Human Medicine, Michigan State University, East Lansing, USA.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3941/jrcr.v11i7.2905DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5743150PMC
July 2017
40 Reads

National study shows that abusive head trauma mortality in Sweden was at least 10 times lower than in other Western countries.

Acta Paediatr 2018 Mar 17;107(3):477-483. Epub 2017 Nov 17.

Department of Surgical Sciences, Forensic Medicine, Uppsala University, Uppsala, Sweden.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/apa.14138DOI Listing
March 2018
2 Reads

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 2018 Jul;27(4):366-368

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPB.0000000000000495DOI Listing
July 2018
6 Reads

A Pilot Study of Trauma-Focused Cognitive-Behavioral Therapy Delivered via Telehealth Technology.

Child Maltreat 2017 11 4;22(4):324-333. Epub 2017 Sep 4.

1 Department of Psychology and Behavioral Sciences, Medical University of South Carolina, Charleston, SC, USA.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1077559517725403DOI Listing
November 2017
9 Reads

Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade's experience.

Orphanet J Rare Dis 2017 07 25;12(1):133. Epub 2017 Jul 25.

School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, NSW, 2031, Australia.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-017-0637-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526310PMC
July 2017
27 Reads

A Large Deletion in the Gene in Labrador Retrievers with a Congenital Cornification Disorder.

G3 (Bethesda) 2017 09 7;7(9):3115-3121. Epub 2017 Sep 7.

Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Switzerland

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1534/g3.117.1124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592936PMC
September 2017
29 Reads

Pediatric Boot Camp Series: Infant With Altered Mental Status and Seizure-A Case of Child Abuse.

MedEdPORTAL 2017 Mar 10;13:10552. Epub 2017 Mar 10.

Assistant Professor in Pediatrics, University of Washington School of Medicine.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.15766/mep_2374-8265.10552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342160PMC
March 2017
6 Reads

Common Skin Conditions in Children: Noninfectious Rashes.

FP Essent 2017 Feb;453:18-25

University of North Carolina Chapel Hill School of Medicine Dermatology Residency Program, 410 Market St. Suite 400 CB#7715, Chapel Hill, NC 27516.

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. Read More

View Article

Download full-text PDF

Source
February 2017
100 Reads

[Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Dec;33(6):878-882

Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2016.06.030DOI Listing
December 2016
20 Reads

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

Pediatr Emerg Care 2016 Dec;32(12):865-867

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.

Pediatric nonaccidental injury (NAI) is an important entity that is commonly seen in a variety of medical settings. These children often present to the emergency department or primary care physicians as the first point of contact after an NAI. There is a major risk associated with nonrecognition of an NAI, including a 35% chance of subsequent injury and a 5% to 10% risk of mortality. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PEC.0000000000000965DOI Listing
December 2016
15 Reads

Only child syndrome in snakes: Eggs incubated alone produce asocial individuals.

Sci Rep 2016 10 20;6:35752. Epub 2016 Oct 20.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/srep35752DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5071763PMC
October 2016
21 Reads

[Battered child syndrome: clinical and radiological aspects].

Pan Afr Med J 2016 20;24:68. Epub 2016 May 20.

Service d'Orthopédie Infantile- Institut MT Kassab, Tunisie.

Physical child abuse or battered child syndrome is responsible for over 75.000 deaths per year in France. This public health problem is under-diagnosed in Tunisia and in the world. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.11604/pamj.2016.24.68.8543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5012761PMC
February 2017
11 Reads

Case of unilateral epidermal nevi without extracutaneous anomalies.

J Dermatol 2016 Oct;43(10):1241-1242

Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.13380DOI Listing
October 2016
11 Reads

The radiologist's role in child abuse: imaging protocol and differential diagnosis.

Radiologia 2016 May 15;58 Suppl 2:119-28. Epub 2016 Apr 15.

Departamento de Radiología Pediátrica, Hospital Universitario Materno Infantil Vall d'Hebron, Barcelona, España.

Child abuse or nonaccidental trauma is a major problem worldwide; in Spain, there are about 12,000 victims per year. The detection of specific lesions or findings that are incongruent with the reported mechanism of trauma mean that radiologists are often the physician responsible for sounding the alarm in cases of abuse. The triad consisting of subdural hematoma, metaphyseal fracture, and posterior rib fractures is very characteristic of the battered child syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.rx.2016.02.010DOI Listing
May 2016
15 Reads

Acute Subdural Hematoma in Infants with Abusive Head Trauma: A Literature Review.

Neurol Med Chir (Tokyo) 2016 May 10;56(5):264-73. Epub 2016 Mar 10.

Department of Neurosurgery, Sendai City Hospital.

The number of cases with child abuse is increasing in Japan, and abusive head trauma (AHT) is a major cause of death in abused children. Child abuse has been recognized by the late 19th century, and widely accepted as battered child syndrome in the middle of the 20th century. As terms, there had been considerable mechanistic controversies between shaken-baby and -impact syndrome until the beginning of the 21st century. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2176/nmc.ra.2015-0308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4870181PMC
May 2016
45 Reads

Inherited ichthyosis: Syndromic forms.

Authors:
Kozo Yoneda

J Dermatol 2016 Mar;43(3):252-63

Department of Dermatology, Faculty of Medicine, Kagawa University, Kagawa, Japan.

Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.13284DOI Listing
March 2016
33 Reads

Unilateral Erythematous Lesions with Wax-like Scaling and Limb Abnormalities: A Quiz.

Acta Derm Venereol 2016 11;96(7):1004-1008

Department of Dermatology, Venereology and Allergology, Wroclaw Medical University, Wroclaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-2355DOI Listing
November 2016
27 Reads

Skeletal and radiological manifestations of child abuse: Implications for study in past populations.

Clin Anat 2016 Oct 25;29(7):844-53. Epub 2016 Jan 25.

Department of Sociology and Anthropology, North Carolina State University, Raleigh, North Carolina.

Child abuse in its various types such as physical, emotional, sexual, and neglect has been document throughout history. However, before the mid-20th century, inflicted injuries to children was overlooked in part because children were often viewed as property. According to the World Health Organization, 57,000 children were the victims of homicide in the year 2000. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ca.22683DOI Listing
October 2016
12 Reads

[Retinal bleeding and venous stasis in a 10-month-old infant after a fall?].

Ophthalmologe 2016 Aug;113(8):694-8

Klinik für Kinder und Jugendliche, Helios Dr. Horst-Schmidt-Kliniken, Wiesbaden, Deutschland.

This report describes the case of a 10-month-old infant, who was delivered to our hospital by the emergency physician intubated and in an unclear unconscious state. The father reported that the child had fallen from the couch to the ground. The consulted ophthalmologist reported venous stasis in both eyes including intraretinal and preretinal bleeding in all four quadrants, a diffuse vitreous hemorrhage in the right eye and temporal retinal wrinkling in both eyes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00347-015-0188-2DOI Listing
August 2016
19 Reads

CHILD syndrome with minimal limb abnormalities.

J Eur Acad Dermatol Venereol 2016 Dec 26;30(12):e201-e202. Epub 2015 Nov 26.

Department of Dermatology, Hospital Niño Jesús, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jdv.13526DOI Listing
December 2016
10 Reads

Non-accidental Trauma Work-up: Unusual Retinal Finding Leads to a Rare Diagnosis.

Pediatr Emerg Care 2017 Sep;33(9):e52-e54

From the *Shands Children's Hospital, Department of Pediatrics, †College of Medicine, ‡Division of Genetics and Metabolism, §Raymond C. Philips Unit, Division of Genetics and Metabolism, Department of Pediatrics, and ∥Congenital Heart Center, Department of Pediatrics, University of Florida, Gainesville, FL.

Lipoprotein lipase (LPL) deficiency is an autosomal recessive condition due to absent or decreased activity of LPL enzyme. The LPL deficiency is a rare condition that is mainly diagnosed in children, but there is no standard screening method at this time. In our report, we describe a 6-day-old male infant who was found to have hypertriglyceridemia after lipemia retinalis was diagnosed from a fundoscopic examination for nonaccidental trauma work-up. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PEC.0000000000000584DOI Listing
September 2017
8 Reads

Epidermal nevus syndromes.

Handb Clin Neurol 2015 ;132:291-316

Departments of Dermatology and Community and Family Medicine, University of California San Francisco, Santa Rosa, CA, USA. Electronic address:

The term epidermal nevus syndrome (ENS) has been used to describe the association of epidermal hamartomas and extracutaneous abnormalities. Although many continue to use the term "ENS," it is now understood that this is not one disease, but rather a heterogeneous group with distinct genetic profiles defined by a common cutaneous phenotype: the presence of epidermal and adnexal hamartomas that are associated with other organ system involvement. One commonality is that epidermal nevi often follow the lines of Blaschko and it appears the more widespread the cutaneous manifestations, the greater the risk for extracutaneous manifestations. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-444-62702-5.00022-6DOI Listing
August 2016
35 Reads

'The bones tell a story the child is too young or too frightened to tell': The Battered Child Syndrome in Post-war Britain and America.

Authors:
Jennifer Crane

Soc Hist Med 2015 Nov 15;28(4):767-788. Epub 2015 Apr 15.

This article traces the emergence of child abuse as a medical concern in post-war Britain and America. In the early 1960s American paediatricians and radiologists defined the 'battered child syndrome' to characterise infants subjected to serious physical abuse. In the British context, paediatricians and radiologists, but also dermatologists and ophthalmologists, drew upon this work and sought to identify clear diagnostic signs of child maltreatment. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/shm/hkv040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623854PMC
November 2015
9 Reads

The Effect of Methylphenidate on Neurological Soft Signs in ADHD.

Psychiatry Investig 2015 Oct 30;12(4):545-50. Epub 2015 Sep 30.

Department of Pharmacology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.

Objective: Neurological soft signs are very common in children with the attention deficit hyperactivity disorder (ADHD), and the first line medication of this disorder is methylphenidate. The aim of the study was to assess the effect of methylphenidate on the neurological soft signs in children and adolescents suffering from ADHD depending on the dose of methylphenidate.

Methods: Thirty five patients with ADHD were investigated by the ADHD RS-IV parent version questionnaire and the Revised Neurological Examination for Subtle Signs before treatment adjustment and after four weeks of methylphenidate medication. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4306/pi.2015.12.4.545DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4620313PMC
October 2015
44 Reads

Battered Child Syndrome; a Case Study.

Emerg (Tehran) 2015 ;3(2):81-2

Department of Emergency Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.

One of the important and usual missed causes of pediatric traumas is child abuse. This ominous phenomenon, which can be presented physically, psychologically, sexually, and emotionally has grown significantly in recent years. Many children are not diagnosed in the early stages of evaluation. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614596PMC
October 2015
25 Reads

CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.

Pediatr Dermatol 2015 Nov-Dec;32(6):e277-82. Epub 2015 Oct 13.

Department of Dermatology, Zhujiang Hospital of Southern Medical University, Guangzhou, China.

Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is an X-linked autosomal dominant disorder characterized by unilateral congenital hemidysplasia with ichthyosiform erythroderma and ipsilateral limb defects caused by a mutation in the gene encoding NAD[P]H steroid dehydrogenase-like protein (NSDHL) at Xq28. The histopathologic hallmark of skin lesions in CHILD syndrome is psoriasiform epidermis with hyperkeratosis and parakeratosis, and its most striking feature affecting the upper dermis is filling of the papillary dermis with foam cells. Here we present the case of a 9-year-old Chinese girl born with the typical clinical features of CHILD syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.12701DOI Listing
September 2016
19 Reads