1,084 results match your criteria CHILD Syndrome

Nitrate removal by combining chemical and biostimulation approaches using micro-zero valent iron and lactic acid.

Sci Total Environ 2022 Jun 21:156841. Epub 2022 Jun 21.

Department of Mineralogy, Petrology and Applied Geology, Faculty of Earth Sciences, University of Barcelona (UB), Water Research Institute (IdRA-UB), C/ Martí i Franquès, s/n, E-08028 Barcelona, Spain. Electronic address:

The occurrence of nitrate is the most significant type of pollution affecting groundwater globally, being a major contributor to the poor condition of water bodies. This pollution is related to livestock-agricultural and urban activities, and the nitrate presence in drinking water has a clear impact on human health. For example, it causes the blue child syndrome. Read More

View Article and Full-Text PDF

An Ethical Analysis of Newborn Congenital Cytomegalovirus Screening.

Pediatrics 2022 06;149(6)

Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio.

Congenital cytomegalovirus (cCMV) affects approximately 1 in every 200 US infants and can be associated with long-term neurodevelopmental sequelae, including sensorineural hearing loss, cerebral palsy, and intellectual disability. As cCMV is infrequently diagnosed based on clinical suspicion alone, newborn cCMV screening programs have been gaining traction, especially hearing-targeted programs which only test infants who fail their newborn hearing screen. cCMV screening programs raise unique ethical dilemmas of both under- and over-diagnosis of cCMV. Read More

View Article and Full-Text PDF

[Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1].

Andes Pediatr 2021 Dec 5;92(6):930-936. Epub 2021 Nov 5.

Servicios Médicos Yunis Turbay y CIA, Bogotá, Colombia.

Introduction: In newborns with respiratory failure and interstitial lung disease, it should be approached as chILD (Childhood Interstitial Lung Disease) syndrome to rule out alterations in surfactant metabolism and brain-lung-thyroid syndrome caused by pathogenic variants in the NKX2-1 gene.

Objective: To pre sent a newborn with chILD syndrome and a large deletion in chromosome 14q12-q21.1. Read More

View Article and Full-Text PDF
December 2021

The prevalence, risk of premature births, mortality and causes of death of cleft lip with or without palate in South Korea: a nationwide population-based cohort study.

Int J Epidemiol 2022 Jun;51(3):974-983

Department of Plastic and Reconstructive Surgery, School of Medicine, Kyungpook National University, Republic of Korea.

Background: Very few recent nationwide studies have assessed the epidemiology of cleft lip with or without palate (CL/P). The purpose of this study was to identify the prevalence, risk of premature births, mortality and cause of death of CL/P.

Methods: This nationwide population-based cohort study evaluated all 5 747 830 live births in South Korea, including CL/P infants, from 2006 to 2018. Read More

View Article and Full-Text PDF

Cutaneous mosaicism: Special considerations for women.

Int J Womens Dermatol 2021 Dec 27;7(5Part A):539-544. Epub 2021 Oct 27.

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut.

Genetic mosaicism results from postzygotic mutations during embryogenesis. Cells harboring pathogenic mutations distribute throughout the developing embryo and can cause clinical disease in the tissues they populate. Cutaneous mosaicism is readily visualized since affected tissue often follows predetermined patterns, such as lines of Blaschko. Read More

View Article and Full-Text PDF
December 2021

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.

Mol Genet Genomic Med 2022 01 26;10(1):e1848. Epub 2021 Dec 26.

Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Graduate Medical School, Singapore, Singapore.

Background: CHILD syndrome is an X-linked dominant disorder associated with pathogenic mutations in the NSDHL gene. The condition is predominantly found in females as it is lethal in males. Most cases present at birth with extensive unilateral ichthyosiform erythroderma involving the trunk and limbs. Read More

View Article and Full-Text PDF
January 2022

Oral manifestations of multisystemic inflammatory syndrome in children (MIS-C) and Kawasaki disease associated to COVID-19: A systematic review.

Spec Care Dentist 2022 May 18;42(3):266-280. Epub 2021 Nov 18.

Laboratory of Oral Surgical Pathology, School of Dentistry, Federal University of Bahia (UFBA), Salvador, Bahia, Brazil.

Aims: Multisystemic inflammatory syndrome in children (MIS-C) is a condition noted in some children asymptomatic but positive to Sars-cov-2 antibody and it presents clinical and laboratory changes similar to Kawasaki disease (KD). Oral changes have also been observed. This systematic review evaluated oral manifestations detected in children with MIS-C and KD associated to COVID-19. Read More

View Article and Full-Text PDF

Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment.

Pediatr Dermatol 2022 Jan 17;39(1):151-152. Epub 2021 Nov 17.

Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida, USA.

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder of cholesterol synthesis characterized by unilateral ichthyosiform dermatitis with ipsilateral limb hypoplasia. Recently, pathogenesis-based treatment has demonstrated improvement of skin lesions with statins by decreasing formation of cholesterol intermediates through inhibition of cholesterol synthesis. We report a 10-month-old girl who presented with unilateral scaly ptychotropic plaques, who experienced rapid, near-complete clearance with topical 5% simvastatin monotherapy twice daily. Read More

View Article and Full-Text PDF
January 2022

The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.

Curr Probl Diagn Radiol 2021 Aug 28. Epub 2021 Aug 28.

Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO.

Phakomatoses, or neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm, namely the skin, eye globe, retina, tooth enamel, and central nervous system. Other organs are also involved in some syndromes, mainly cardiovascular, pulmonary, renal, and musculoskeletal systems. Currently, more than sixty distinct entities belonging to this category have been described in the literature. Read More

View Article and Full-Text PDF

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.

View Article and Full-Text PDF

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

View Article and Full-Text PDF

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

View Article and Full-Text PDF

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

View Article and Full-Text PDF

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

View Article and Full-Text PDF

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 03 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

View Article and Full-Text PDF

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

View Article and Full-Text PDF
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

View Article and Full-Text PDF
November 2020

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

Exp Dermatol 2021 03 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

View Article and Full-Text PDF

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

View Article and Full-Text PDF
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

View Article and Full-Text PDF
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

View Article and Full-Text PDF
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

View Article and Full-Text PDF
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

View Article and Full-Text PDF

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

View Article and Full-Text PDF
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

View Article and Full-Text PDF
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.

View Article and Full-Text PDF
September 2020