1,032 results match your criteria CHILD Syndrome


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

J Atten Disord 2018 Dec 10:1087054718816164. 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
December 2018

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
5 Reads

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

JAMA Dermatol 2018 Nov;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
20 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
January 2017
4 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
5 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
6 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
2 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
13 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

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
4 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
14 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
7 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
46 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
10 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
8 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
15 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
5 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
4 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
7 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
18 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
7 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
11 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
6 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
4 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
3 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
3 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
13 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
5 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
10 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
16 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
6 Reads

The epidemiology of fractures in infants--Which accidents are preventable?

Injury 2016 Jan 3;47(1):188-91. Epub 2015 Sep 3.

Department of Pediatric and Adolescent Surgery, Medical University of Graz, Graz, Austria.

Introduction: In children, fractures have a huge impact on the health care system. In order to develop effective prevention strategies exact knowledge about the epidemiology of fractures is mandatory. This study aims to describe clinical and epidemiological data of fractures diagnosed in infants. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.injury.2015.08.037DOI Listing
January 2016
5 Reads

Large deletions in the NSDHL gene in two patients with CHILD syndrome.

Acta Derm Venereol 2015 Nov;95(8):1007-8

Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-2143DOI Listing
November 2015
5 Reads

Childhood interstitial lung disease: A systematic review.

Pediatr Pulmonol 2015 Dec 30;50(12):1383-92. Epub 2015 Apr 30.

Department of Respiratory Medicine, Sydney Children's Hospital, Randwick NSW 2031, Australia.

Objectives: Childhood interstitial lung disease (chILD) is a group of rare chronic and complex disorders of variable pathology. There has been no systematic review of published chILD research. This study aimed to describe chILD classification systems, epidemiology, morbidity, treatments, outcomes, and the impact of chILD on families and the burden on health services. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.23183DOI Listing
December 2015
5 Reads

Some reflections from the past and some ideas for the future: The 2014 Kempe Oration.

Authors:
Kim Oates

Child Abuse Negl 2015 May 23;43:1-7. Epub 2015 Apr 23.

Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

Although the physical features of child abuse had been described before 1962, it was Henry Kempe et al.'s article "The Battered Child Syndrome" that is regarded as the beginning of widespread awareness and acceptance of this previously hidden problem. It was another 15 years before child sex abuse started to receive similar widespread recognition. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.chiabu.2015.03.017DOI Listing
May 2015
6 Reads

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Am J Med Genet A 2015 Jun 21;167(6):1342-8. Epub 2015 Apr 21.

Unidad de Genética, Grupo de Investigación Traslacional en Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

The NSDHL gene encodes 3β-hydroxysteroid dehydrogenase involved in one of the later steps of the cholesterol biosynthetic pathway. Mutations in this gene can cause CHILD syndrome (OMIM 308050) and CK syndrome (OMIM 300831). CHILD syndrome is an X-linked dominant, male lethal disorder caused by mutations in the NSDHL gene that result in the loss of the function of the NSDHL protein. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36999DOI Listing
June 2015
36 Reads

Systemic conditions in children associated with pigmentary changes.

Clin Dermatol 2015 May-Jun;33(3):362-7. Epub 2014 Dec 8.

Department of Pediatrics, Indiana University School of Medicine, E3131 Fifth Third Office Building, 720 Eskenazi Avenue, Indianapolis, Indiana, 46202. Electronic address:

Systemic conditions may have pigmentary associations. Prompt recognition of these associations allows the practitioner to initiate the appropriate workup and therapy when indicated. This contribution highlights some of the clinical features of neurofibromatosis 1, LEOPARD syndrome, acanthosis nigricans, hypomelanosis of Ito, incontinentia pigmenti, CHILD syndrome, and piebaldism to assist the dermatologist in making the proper diagnosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clindermatol.2014.12.014DOI Listing
January 2016
2 Reads

CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment--A Case Report.

Pediatr Dermatol 2015 Jul-Aug;32(4):e145-7. Epub 2015 Apr 6.

First Department of Pediatrics, University of Athens and Aghia Sofia Children's Hospital, Athens, Greece.

CHILD syndrome is a rare X-linked dominant condition that presents with congenital hemidysplasia, Ichthyosiform erythroderma, and limb defects in affected patients. We report the case of a 10-year-old girl treated with topical simvastatin and cholesterol ointment, after which her skin lesions significantly improved within the first 30 days of treatment. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.12587DOI Listing
May 2016
6 Reads

Histologic Artifacts of Autolytic Müller Cell Foot Process Swelling in Postmortem Examination of Infant Eyes: Potential Pitfall in the Evaluation of Traumatic Retinal Hemorrhages.

JAMA Ophthalmol 2015 Jun;133(6):706-9

Department of Ophthalmology, Stanford University School of Medicine, Stanford, California.

Importance: Retinal hemorrhages are an important sequela of fatal head trauma. The accurate pathologic diagnosis of retinal hemorrhages has critical implications for determination of the manner of death.

Observations: We describe an autolytic postmortem histologic artifact of eosinophilic Müller cell foot process swelling that mimics a nerve fiber layer hemorrhage. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaophthalmol.2015.0493DOI Listing
June 2015
6 Reads

Retinal hemorrhages in nonaccidental trauma: look at susceptibility-weighted imaging on pediatric MRI.

Pediatr Neurol 2015 Apr 16;52(4):464-5. Epub 2015 Jan 16.

Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2015.01.005DOI Listing
April 2015
22 Reads

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.

Hum Mol Genet 2015 May 4;24(10):2808-25. Epub 2015 Feb 4.

Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, USA,

NSDHL is a 3β-hydroxysterol dehydrogenase that is involved in the removal of two C-4 methyl groups in one of the later steps of cholesterol biosynthesis. Mutations in the gene encoding the enzyme are responsible for the X-linked, male lethal mouse mutations bare patches and striated, as well as most cases of human CHILD syndrome. Rare, hypomorphic NSDHL mutations are also associated with X-linked intellectual disability in males with CK syndrome. Read More

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/early/2015/02/25/hmg.d
Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddv042
Publisher Site
http://dx.doi.org/10.1093/hmg/ddv042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406293PMC
May 2015
5 Reads

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Pediatr Radiol 2015 Jul 3;45(7):965-76. Epub 2015 Feb 3.

Genetic Department, Referral Centre for Developmental Abnormalities, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, 59 boulevard Pinel, 69677, Bron cedex, France.

Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-characterised example is the Smith-Lemli-Opitz syndrome. Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s00247-014-3257
Web Search
http://link.springer.com/10.1007/s00247-014-3257-9
Publisher Site
http://dx.doi.org/10.1007/s00247-014-3257-9DOI Listing
July 2015
37 Reads

Skin Abnormalities in CHILD Syndrome Successfully Treated with Pathogenesis-based Therapy.

Acta Derm Venereol 2015 Jul;95(6):752-3

Department of Dermatology, Aarhus University Hospital, P.P. Oerumsgade 11, DK-8000 Aarhus, Denmark.

View Article

Download full-text PDF

Source
http://www.medicaljournals.se/acta/content/?doi=10.2340/0001
Publisher Site
http://dx.doi.org/10.2340/00015555-2044DOI Listing
July 2015
8 Reads

Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia.

Br J Dermatol 2015 Jul 28;173(1):304-7. Epub 2015 May 28.

Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, WC1N 3JH, U.K.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.13636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737197PMC
July 2015
4 Reads

Significance of platelet function diagnostics for clarification of suspected battered child syndrome.

Hamostaseologie 2014 ;34 Suppl 1:S53-6

Priv.-Doz. Dr. med. Ralf Knöfler, Medizinische Fakultät der TU Dresden, Klinik und Poliklinik für Kinder- und Jugendmedizin, Bereich Pädiatrische Hämostaseologie, Fetscherstr. 74, Tel. +49/(0)351/458 47 99, Fax +49/(0)351/458 57 88, E-mail:

The manifestation of an unclear bleeding tendency in childhood calls for an extended coagulation work-up, particularly when a battered child syndrome is suspected and typical concomitant injuries are absent. The chosen diagnostic tests should be able to detect the presence of relatively common coagulation defects such as von Willebrand syndrome or hemophilia, but also rare diseases such as inherited thrombocytopathies. The PFA-100® test does not help to provide a definite diagnosis especially in cases of mild inherited thrombocytopathies, since in most cases the PFA-100® test results are normal. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5482/HAMO-14-02-0011DOI Listing
August 2015
4 Reads

[Insufficient knowledge about battered child syndrome among doctors in the emergency department].

Ugeskr Laeger 2014 Apr;176(18)

Carl Blochs Gade 15, 4. t.v., 8000 Aarhus C.

The aim of the study was to determine the present knowledge regarding battered child syndrome (BCS) among doctors in the emergency department. Nineteen doctors with different educational levels from seven hospitals in Denmark were interviewed. For children younger than 18 months, 68%, 65% and 25% of the participants related femur-, collum costae- and corner fractures to BCS respectively. Read More

View Article

Download full-text PDF

Source
April 2014
3 Reads

CHILD syndrome.

Indian J Dermatol Venereol Leprol 2014 Sep-Oct;80(5):483

Departments of Dermatology and STD, Dr. D.Y. Patil Medical College and Hospital, Kolhapur, Maharashtra, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0378-6323.140350DOI Listing
May 2015
6 Reads