1,073 results match your criteria CHILD Syndrome

Anesthetic considerations of CHILD syndrome.

J Anaesthesiol Clin Pharmacol 2021 Jan-Mar;37(1):130-132. Epub 2021 Apr 10.

Department of Anaesthesiology, Pain Medicine and Critical Care, Burn and Reconstructive Surgery, All India Institute of Medical Sciences, New Delhi, India.

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Abusive head trauma: Canadian and global perspectives.

Pediatr Radiol 2021 May 17;51(6):876-882. Epub 2021 May 17.

Department of Medical Imaging, University of Toronto, Toronto, ON, Canada.

Canada has come a long way since Dr. C. Henry Kempe first described battered-child syndrome in 1962. Read More

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Is it all MIS-C? Unusual findings in a series of nine German patients with multi-system inflammatory syndrome in children after SARS-CoV-2 infection.

Int J Infect Dis 2021 May 20;106:405-408. Epub 2021 Apr 20.

Department of Paediatrics, University of Cologne, Cologne, Germany.

Objectives: Multi-system inflammatory syndrome in children (MIS-C) is a post-viral inflammatory vasculopathy of children and adolescents following Covid-19 infection. Since the incidence of SARS-CoV-infections has been increasing in Germany since October 2020, we observe an increasing number of children presenting with MIS-C.

Design: We present detailed clinical characteristics of a cohort of nine children with MIS-C admitted to a tertiary PICU at the University Hospital of Cologne between March 2020 and February 2021. Read More

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Perceptions of child vulnerability in first-time mothers who conceived using assisted reproductive technology.

J Reprod Infant Psychol 2021 Mar 11:1-11. Epub 2021 Mar 11.

Department of Psychology and Neuroscience, Baylor University, Waco, Texas.

: There has been an absence of research investigating if infertility and the utilisation of Assisted Reproductive Technology (ART) to conceive increases maternal perceptions of child vulnerability. The purpose of the current study was to assess if there were differences in maternal ratings of child vulnerability between first-time mothers who conceived using ART procedures and first-time mothers who conceived spontaneously.: This cross-sectional study was comprised of 171 first-time mothers who conceived using ART and 198 first-time mothers who conceived spontaneously. Read More

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Pig Bite Injury Mimicking as Battered Baby Syndrome Leading to Bilateral Foot Amputation in a Toddler: A Diagnostic Dilemma and a Rare Case Report.

J Orthop Case Rep 2020 Jul;10(4):5-7

Department of Orthopedics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Introduction: Animal bites are a less common cause of pediatric injury. They are rarely associated with fractures in toddlers. Child abuse is the most closely related differential diagnosis in a child presenting with animal bite and it is a serious threat to both mental health and physical well-being of pediatric population. Read More

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Vulnerable child syndrome in the neonatal intensive care unit: A review and a new preventative intervention with feasibility and parental satisfaction data.

Early Hum Dev 2021 Mar 25;154:105283. Epub 2020 Nov 25.

University of Texas Southwestern Medical Center, Dallas, TX, USA.

Vulnerable Child Syndrome (VCS) occurs in the setting in which a child recovers from a life-threatening illness, as result of which the parent develops heightened parental perceptions of child vulnerability (PPCV). This leads to a pattern of overprotective parenting which may result in adverse neurodevelopmental and behavioral outcomes in the child over time. Parents of premature infants have been shown to be at increased risk of developing raised PPCV while their infants may develop symptoms of VCS. Read More

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Erosive Tooth Wear, Presence of Parafunctional Habits and Tooth Injuries-Occurrence in a Group of Children and Adolescents Exposed to Domestic Violence.

J Clin Pediatr Dent 2020 Dec;44(6):429-435

Objectives: To compare the prevalence of parafunctional habits, erosive tooth wear and occurrence of tooth injuries among children being under the care of Social Welfare Centre and children treated in the Department of Children's Dentistry of the Medical University of Warsaw.

Study Design: The study contains environmental and medical interviews, record-based analysis and clinical examination. Parafunctional habits were rated on the base of dental interviews and clinical examinations. Read More

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December 2020

[Diagnosis of complete transphyseal separation of the distal humerus].

Ugeskr Laeger 2020 11;182(45)

Transphyseal separation of the distal humerus is a rare injury. Trauma, battered child syndrome and birth-related injuries are amongst the most common causes of the injury. This case report illustrates the importance of applying proper imaging and analysis to detect the injury. Read More

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November 2020

Mutations in 3β-hydroxysteroid-δ8, δ7-isomerase paradoxically benefit epidermal permeability barrier homeostasis in mice.

Exp Dermatol 2021 Mar 30;30(3):384-389. Epub 2020 Nov 30.

Dermatology Services, Veterans Affairs Medical Center, University of California San Francisco, CA, USA.

Inherited or acquired blockade of distal steps in the cholesterol synthetic pathway results in ichthyosis, due to reduced cholesterol production and/or the accumulation of toxic metabolic precursors, while inhibition of epidermal cholesterol synthesis compromises epidermal permeability barrier homeostasis. We showed here that 3β-hydroxysteroid-δ8, δ7-isomerase-deficient mice (TD), an analog for CHILD syndrome in humans, exhibited not only lower basal transepidermal water loss rates, but also accelerated permeability barrier recovery despite the lower expression levels of mRNA for epidermal differentiation marker-related proteins and lipid synthetic enzymes. Moreover, TD mice displayed low skin surface pH, paralleled by increased expression levels of mRNA for sodium/hydrogen exchanger 1 (NHE1) and increased antimicrobial peptide expression, compared with wild-type (WT) mice, which may compensate for the decreased differentiation and lipid synthesis. Read More

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Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi.

Genes (Basel) 2020 10 30;11(11). Epub 2020 Oct 30.

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

Loss-of-function variants in the gene have been associated with epidermal nevi in humans with congenital hemidysplasia, ichthyosiform nevi, and limb defects (CHILD) syndrome and in companion animals. The gene codes for the NAD(P)-dependent steroid dehydrogenase-like protein, which is involved in cholesterol biosynthesis. In this study, a female Chihuahua cross with a clinical and histological phenotype consistent with progressive epidermal nevi is presented. Read More

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October 2020

Novel gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.

BMJ Case Rep 2020 Nov 2;13(11). Epub 2020 Nov 2.

Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.

We report a case of a 1-year and 2-month-old girl with clinical features consistent with congenital hemidysplasia with ichthyosis and limb defects syndrome. Sterol analysis from skin flakes revealed increased levels of a mono 4-alpha methyl sterol also seen in plasma as well as the presence of 4-alpha-carboxy-4-methyl-cholest-8(9)-en-3beta-ol and several keto-sterols, which are usually below the limit of detection. This sterol pattern is consistent with abnormal function of the 4-alpha-methylsterol-4-demethylase complex. Read More

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November 2020

Topical Cholesterol/Simvastatin Gel for the Treatment of CHILD Syndrome in an Adolescent.

Int J Pharm Compd 2020 Sep-Oct;24(5):367-369

Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas.

Congenital ichthyoses are a heterogeneous group of genetic skin disorders characterized by defects in the critical barrier function of the skin. These life-long conditions present a significant therapeutic challenge in dermatology. One important example is Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects, or CHILD syndrome. Read More

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October 2020

Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell.

J Pediatr 2020 09;224:44-50.e1

Department of Pediatrics, George Washington University, Washington, DC; Center for Translational Research, Children's National Hospital, Washington, DC.

Objectives: To measure parental perceptions of child vulnerability, as a precursor to developing a population-scale mechanism to mitigate harm after newborn screening.

Study Design: Participants were parents of infants aged 2-5 months. Parental perceptions of child vulnerability were assessed with an adapted version of the Vulnerable Baby Scale. Read More

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September 2020

Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.

BMC Med Genet 2020 08 20;21(1):164. Epub 2020 Aug 20.

Human Genetics Unit, Faculty of Medicine, University of Colombo, 25, Kynsey Road, Colombo, 08, Sri Lanka.

Background: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects also known as CHILD syndrome is an X-linked dominant, male lethal genodermatosis with a prevalence of 1 in 100,000 live births. Mutations in NSDHL gene located at Xq28 potentially impair the function of NAD(P) H steroid dehydrogenase-like protein and is responsible for its pathogenesis.

Case Presentation: The proband was a 9-month-old twin (T2) girl with a healthy twin sister (T1) of Sri Lankan origin born to non-consanguineous parents. Read More

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Cardiac anomalies in microtia patients at a tertiary pediatric care center.

Int J Pediatr Otorhinolaryngol 2020 Sep 23;136:110211. Epub 2020 Jun 23.

Department of Otolaryngology Head and Neck Surgery, Baylor College of Medicine, USA; Division of Pediatric Otolaryngology, Texas Children's Hospital, Houston, TX, 77030, USA. Electronic address:

Objective: Microtia is a congenital condition that is known to be associated with cardiac abnormalities. Current guidelines suggest performing an echocardiogram or other cardiac work-up in the presence of ear anomalies with dysmorphic features but not isolated microtia. We report on the prevalence and characteristics of cardiac anomalies among microtia patients at a tertiary pediatric center. Read More

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September 2020

Characteristics and Hospital Costs of Spica Cast Treatment of Non-accidental-related Diaphyseal Femoral Fractures in Children Before Walking Age.

J Pediatr Orthop 2020 Nov/Dec;40(10):e932-e935

Division of Orthopaedics, The Children's Hospital of Philadelphia, Philadelphia, PA.

Background: Fractures are one of the most common presentations of child abuse second only to soft tissue damage, with ∼60% of fractures being femur, humerus or tibia fractures. Although studies have shown increased health care costs associated with nonaccidental trauma (NAT), there is little data regarding the cost of NAT-associated fractures compared with accidental trauma (AT) related fractures. The purpose of this study was to consider the economic burden of NAT related femoral fractures compared with AT femoral fractures. Read More

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February 2021

The impact of social distancing on pediatric neurosurgical emergency referrals during the COVID-19 pandemic: a prospective observational cohort study.

Childs Nerv Syst 2020 09 3;36(9):1821-1823. Epub 2020 Jul 3.

Department of Neurosurgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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September 2020

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

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December 2020

Verrucous hyperkeratosis with predominant involvement of the left side of the body and concomitant onychodystrophy in a 17-year-old girl.

J Dtsch Dermatol Ges 2020 09 8;18(9):1054-1057. Epub 2020 Jun 8.

Department of Dermatology and Allergology, Bad Bentheim Medical Center, Bad Bentheim, Germany.

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September 2020

Pediatric Crohn Disease and Multisystem Inflammatory Syndrome in Children (MIS-C) and COVID-19 Treated With Infliximab.

J Pediatr Gastroenterol Nutr 2020 08;71(2):153-155

Department of Pediatric Gastroenterology, Susan and Leonard Feinstein IBD Clinical Center, Icahn School of Medicine at Mount Sinai, New York, NY.

Coronavirus disease 2019 (COVID-19) may lead to a severe inflammatory response referred to as a cytokine storm. We describe a case of severe COVID-19 infection in a recently diagnosed pediatric Crohn disease patient successfully treated with tumor necrosis factor-alpha (TNF-α) blockade. The patient presented with 5 days of fever, an erythematous maculopapular facial rash, and abdominal pain without respiratory symptoms. Read More

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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 06 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

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Retinal and visual function in infants with non-accidental trauma and retinal hemorrhages.

Doc Ophthalmol 2020 10 12;141(2):111-126. Epub 2020 Feb 12.

Department of Ophthalmology, University of Washington, Seattle, USA.

Purpose: To investigate retinal function and visual outcomes in infants with retinal hemorrhages due to non-accidental trauma (NAT).

Methods: This is a retrospective review of full-field or multifocal electroretinogram (ERG) recordings, visual acuity in log minimum angle of resolution (logMAR), clinical status, and neuroimaging. Multifocal ERGs from the central 40° were compared to corresponding fundus imaging. Read More

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October 2020

The Implementation of a Pediatric Nonaccidental Trauma Evaluation Protocol: A Quality Improvement Analysis.

Pediatr Emerg Care 2020 Feb;36(2):e61-e65

Department of Surgery, University of Texas Health Science Center at San Antonio, San Antonio.

Background: Pediatric nonaccidental trauma (NAT) accounts for more than 1500 deaths annually and is a source of incalculable lifelong morbidity. Evidence-based NAT evaluation protocols are available; however, compliance studies are lacking. Here, we analyze the quality of implementation of a new NAT evaluation protocol. Read More

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February 2020

Tympanoxyloid verruciform xanthoma is a distinct feature of CHILD nevus.

J Eur Acad Dermatol Venereol 2020 Feb 8;34(2):e70-e72. Epub 2019 Oct 8.

Department of Dermatology, Medical Center - University of Freiburg, Freiburg im Breisgau, Germany.

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February 2020

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.

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January 2020

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

An Bras Dermatol 2019 07 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

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Vulnerable Child Syndrome.

Kristine Schmitz

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

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

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