40,744 results match your criteria Infantile Hemangioma


Early Intervention is Important to Prevent Sensitization to New Allergens.

Med Sci (Basel) 2018 Dec 11;6(4). Epub 2018 Dec 11.

Department of Otolaryngology, Osaka Medical College, 2-7 Daigakumachi Takatsuki, Osaka 569-8686, Japan.

We review current management for allergic rhinitis and possible new treatments for this condition. Management of allergic rhinitis includes promotion of protective factors, avoidance of allergens, and possibly immunotherapy. In recent years, the incidence of allergic rhinitis has increased in many countries. Read More

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December 2018

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2018 Dec 12. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, New South Wales, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u.angeborene Stoffwechselerkrankungen, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Australia.

Objective: To delineate the epileptology, a key part of the phenotypic spectrum, in a large patient cohort.

Methods: Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic variants or chromosome 6p21. Read More

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December 2018
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Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism.

Eur J Ophthalmol 2018 Dec 12:1120672118818322. Epub 2018 Dec 12.

Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Purpose:: To study electroretinograms in infantile nystagmus syndrome associated with idiopathic infantile nystagmus, optic nerve hypoplasia, and albinism.

Methods:: A total of 30 children with idiopathic infantile nystagmus, 18 with optic nerve hypoplasia, and 18 with albinism were studied. Three electroretinogram protocols were applied according to child's age: 58 (mean: 2. Read More

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December 2018

Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures.

Epilepsia 2018 Dec 7. Epub 2018 Dec 7.

INSERM Unit U1129 Infantile Epilepsies and Brain Plasticity, University Paris Descartes, Sorbonne Paris Cité, Paris, France.

Objective: We aimed to characterize epilepsy of infancy with migrating focal seizures (EIMFS), a rare, severe early onset developmental epilepsy related to KCNT1 mutation, and to define specific electroencephalography (EEG) markers using EEG quantitative analysis. The ultimate goal would be to improve early diagnosis and to better understand seizure onset and propagation of EIMFS as compared to other early onset developmental epilepsy.

Methods: EEG of 7 EIMFS patients with KCNT1 mutations (115 seizures) and 17 patients with other early onset epilepsies (30 seizures) was included in this study. Read More

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December 2018

Confirming the pathogenicity of in early onset epileptic encephalopathy.

Epilepsia Open 2018 Dec 12;3(4):524-527. Epub 2018 Nov 12.

King Abdullah International Medical Research Center (KAIMRC) Riyadh Saudi Arabia.

Early onset epileptic encephalopathy (EOEE) has been used to encompass Ohtahara syndrome (early infantile epileptic encephalopathy [EIEE]), early myoclonic epilepsy, and many others. Multiple genes have been established to cause epileptic encephalopathy in the immature brain, and next-generation sequencing has accelerated the process of novel gene discovery. Many of the previously published candidate genes are still pending confirmatory reports or functional studies. Read More

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December 2018

New Approaches to Tay-Sachs Disease Therapy.

Front Physiol 2018 20;9:1663. Epub 2018 Nov 20.

Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russia.

Tay-Sachs disease belongs to the group of autosomal-recessive lysosomal storage metabolic disorders. This disease is caused by β-hexosaminidase A (HexA) enzyme deficiency due to various mutations in α-subunit gene of this enzyme, resulting in GM2 ganglioside accumulation predominantly in lysosomes of nerve cells. Tay-Sachs disease is characterized by acute neurodegeneration preceded by activated microglia expansion, macrophage and astrocyte activation along with inflammatory mediator production. Read More

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November 2018

Effect of dosing regimen and microneedle pretreatment on in vitro skin retention of topically applied beta-blockers.

Biomed Microdevices 2018 Dec 6;20(4):100. Epub 2018 Dec 6.

Department of Pharmaceutical Science and Experimental Therapeutics, University of Iowa College of Pharmacy, 115 South Grand Avenue, Iowa City, IA, 52242, USA.

Topical beta-blocker formulations are commonly used to treat infantile hemangiomas (IHs); however, the skin concentrations and drug permeation through the skin have not been quantified. Microneedles (MNs) may increase local skin concentrations, which could further enhance lesion clearance and improve dosing regimens. The objective of this study was to quantify skin concentrations and drug permeation of two beta-blockers, propranolol and timolol, in vitro after application to intact skin and skin pretreated with solid MNs of two lengths. Read More

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December 2018

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.

Parkinsonism Relat Disord 2018 Nov 29. Epub 2018 Nov 29.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany. Electronic address:

Spinocerebellar ataxia type 21 (SCA21/ATX-TMEM240) was recently found to be caused by mutations in TMEM240, with still limited knowledge on the phenotypic spectrum and disease course. Here we present five subjects from three novel SCA21 families from different parts of the world (including a novel c.196G > A, p. Read More

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November 2018

Hypohidrotic Ectodermal Dysplasia: A Rare Disorder with Bilateral Infantile Glaucoma.

J Glaucoma 2018 Dec 11. Epub 2018 Dec 11.

Glaucoma and anterior segment, Dr. Shroff's charity eye hospital, Delhi.

Ectodermal dysplasia is a disorder that occurs due to abnormalities of ectodermal structures such as skin, teeth, hair, nails, and eccrine glands. Approximately 200 different conditions have been identified as ectodermal dysplasia, the most common being hypohidrotic ectodermal dysplasia (HED). It is characterized by hypotrichosis (sparse scalp or body hair), hypodontia (absent or malformed teeth) and hypohidrosis (reduced ability to sweat). Read More

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December 2018
2 Reads

Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis.

BMJ Open Ophthalmol 2018 17;3(1):e000180. Epub 2018 Nov 17.

Department of Ophthalmology, Beijing Children's Hospital, National Center for Children's Health, National Key Discipline of Pediatrics, Capital Medical University, Beijing, China.

Objective: To evaluate the ophthalmic phenotypes associated with T-cell immune regulator 1 (TCIRG1) mutations in Chinese patients with infantile malignant osteopetrosis (IMO).

Methods And Analysis: 27 Chinese TCIRG1-related osteoporosis infants were enrolled using direct DNA sequencing of PCR-amplified exons. 12 cases had frameshift mutation (the frameshift mutation group, group F), and 15 cases had point mutation (the point mutation group, group P). Read More

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November 2018
2 Reads

School performance in children with infantile hydrocephalus: a nationwide cohort study.

Clin Epidemiol 2018 22;10:1721-1731. Epub 2018 Nov 22.

Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark,

Purpose: Little is known about the prognosis for school performance among children with all-cause infantile hydrocephalus (IHC). Using detailed educational data, we investigated the school performance for IHC patients compared to other children in Denmark.

Patients And Methods: We conducted a population-based cohort study of all live-born children in Denmark (1977-2015) based on data from the Danish national health registers and the Danish educational register. Read More

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November 2018

Pediatric Dermatology - critical approach to the new treatments.

Dermatol Ther 2018 Dec 7:e12801. Epub 2018 Dec 7.

Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health.

The field of pediatric dermatology treatment has been rich in new developments. Several recent therapeutic advances in pediatric dermatology have been made. This review will focus on critical approach to the new treatments for several entities encountered in pediatric dermatology. Read More

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December 2018
1 Read

Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination.

Am J Med Genet C Semin Med Genet 2018 Dec 10. Epub 2018 Dec 10.

Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Aicardi syndrome is a rare, severe neurodevelopmental disorder classically characterized by the triad of infantile spasms, central chorioretinal lacunae, and agenesis of the corpus callosum. Aicardi syndrome only affects females, with the exception of a few males with a 47, XXY chromosome constitution. All cases are de novo and the only cases of definitive recurrence in families are in identical twins. Read More

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December 2018
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A placebo-controlled clinical trial to evaluate the effectiveness of massaging on infantile colic using a random-effects joint model.

Pediatric Health Med Ther 2018 16;9:157-163. Epub 2018 Nov 16.

Department of Midwifery and Reproductive Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: Infantile colic viewed as a non-dangerous prevalent issue could lead to stress in parents and long-term negative consequences in ex-colicky children. Researchers have not been successful in finding a certain treatment for colic symptoms. Studies suggest completely different approaches as its treatment. Read More

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November 2018
1 Read

Hemiconvulsion-Hemiplegia-Epilepsy in a girl with cobalamin C deficiency.

Epileptic Disord 2018 Dec 10. Epub 2018 Dec 10.

Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University,, Department of Neurology and Neurosurgery, McGill University,, Research Institute of the McGill University Health Centre.

Hemiconvulsion-Hemiplegia-Epilepsy initially involves an infantile presentation of febrile focal motor status epilepticus, with subsequent hemiplegia of the initially affected side. Months to years later, affected children go on to develop a chronic epilepsy with recurrent focal seizures which are often refractory to treatment. This uncommon paediatric epilepsy syndrome is poorly understood, with only a very small minority of cases associated with an underlying genetic or metabolic abnormality. Read More

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December 2018

Intractable apnoeic seizures in a child with a deletion typically associated with Williams syndrome.

Epileptic Disord 2018 Dec 10. Epub 2018 Dec 10.

Division of Pediatric Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto.

Williams-Beuren syndrome is rarely associated with epilepsy. One previously reported case showed an association with apnoeic seizures while a few other cases showed an association with infantile epileptic spasms and generalized and focal seizures. We report the case of a 13-month-old boy with a deletion typically associated with Williams-Beuren syndrome, who presented with isolated apnoeic seizures which were refractory to multiple antiepileptic drugs but partially responsive to the ketogenic diet. Read More

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December 2018

The sex differences of the behavior response to early Life immune stimulation: Microglia and astrocytes involvement.

Physiol Behav 2018 Dec 6. Epub 2018 Dec 6.

Laboratory of Genetic, Neuroendocrinology and Biotechnology, Faculty of Sciences, Ibn Tofail University, Kenitra. Morocco.

It is well known that inflammatory challenge during the prenatal period results in permanent changes in glial cells and behavior in adulthood. However, it is unknown whether inflammatory challenge during the infantile period may have permanent sexually-dimorphic effects on microglia and astrocytes in vivo, which in turn may be associated with sex differences in adult behavior. In this study, we have evaluated whether postnatal injection of lipopolysaccharide (LPS; 250μg/kg, i. Read More

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December 2018

Infantile myofibromatosis: review of imaging findings and emphasis on correlation between MRI and histopathological findings.

Clin Imaging 2018 Nov 8;54:40-47. Epub 2018 Nov 8.

Diagnostic Radiology Department, American University of Beirut Medical Center, PO Box 11-0236, Riad El Solh, 1107 2020 Beirut, Lebanon. Electronic address:

Background: Infantile myofibromatosis (IM) is the most common fibrous tumor of infancy. MRI is considered the gold standard in IM evaluation. Very little has been published about IM with histopathology correlation in the pediatric age. Read More

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November 2018

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

Mol Genet Metab 2018 Dec 3. Epub 2018 Dec 3.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States. Electronic address:

CLN6 is a transmembrane protein located in the endoplasmic reticulum that is involved in lysosomal acidification. Mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis (LINCL), and teenage and adult onset NCL without visual impairment. Here we describe two pediatric patients with LINCL from unrelated families who were evaluated at the National Institutes of Health. Read More

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December 2018

The Ocular Status of Cystinosis Patients Receiving a Hospital Pharmacy-Made Preparation of Cysteamine Eye Drops: A Case Series.

Ophthalmol Ther 2018 Dec 5. Epub 2018 Dec 5.

Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Manchester, UK.

Introduction: Infantile nephropathic cystinosis (INC) is an autosomal recessive lysosomal disorder in which patients develop deposits of cystine crystals in their kidneys and corneas from a young age.

Methods: We conducted a retrospective analysis of children with INC seen by ophthalmologists at the Manchester Royal Eye Hospital between 2002 and 2018, to evaluate clinical findings, symptoms and treatment.

Results: Twenty-two children diagnosed with INC from age 0 (prenatally) to 11 years were assessed. Read More

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December 2018
5 Reads

Draft genomes of strains isolated from dried spices bring unique insights into the diversity of plant-associated strains.

Stand Genomic Sci 2018 29;13:35. Epub 2018 Nov 29.

1Center of Food Safety and Applied Nutrition, U. S. Food and Drug Administration, 8301 Muirkirk Road, Laurel, MD 20708 USA.

is a Gram-negative opportunistic pathogen that causes life- threatening infantile infections, such as meningitis, septicemia, and necrotizing enterocolitis, as well as pneumonia, septicemia, and urinary tract and wound infections in adults. Here, we report 26 draft genome sequences of , which were obtained from dried spices from the USA, the Middle East, China, and the Republic of Korea. The average genome size of the genomes was 4393 kb, with an average of 4055 protein coding genes, and an average genome G + C content of 56. Read More

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November 2018
1 Read

Prenatal Diagnosis of Tay-Sachs Disease.

Methods Mol Biol 2019 ;1885:233-250

Mount Sinai Genomics, Inc., DBA Sema 4, New York, NY, USA.

Tay-Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder caused by mutations of the HEXA gene resulting in the deficiency of hexosaminidase A (Hex A) and subsequent neuronal accumulation of G gangliosides. Infantile TSD is a devastating and fetal neurodegenerative disease with death before the age of 3-5 years. A small proportion of TSD patients carry milder mutations and may present juvenile or adult onset milder disease. Read More

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January 2019
7 Reads

Optical Rehabilitation of a Patient with Keratoconus and Nystagmus.

Med Hypothesis Discov Innov Ophthalmol 2018 ;7(4):183-189

Kentucky College of Optometry, University of Pikeville, Pikeville, KY, USA.

Keratoconus is a progressive corneal disease characterized by bilateral yet usually asymmetric thinning of the cornea with an onset typically in teenage years. While it often presents as an isolated condition, keratoconus may also be associated with many systemic and/or ocular diseases, such as connective tissue and chromosomal disorders. Its association with nystagmus has been described in Leber's congenital amaurosis, where patients also exhibit abnormal pupillary responses, early-onset retinal dystrophy, mental developmental delays, and eventual blindness. Read More

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January 2018
4 Reads

Medical Management of Vascular Anomalies.

Curr Treat Options Pediatr 2018 Jun 27;4(2):221-236. Epub 2018 Apr 27.

Division of Pediatric Otolaryngology, Department of Surgery, Seattle Children's Hospital and Department of Otolaryngology-Head and Neck Surgery, University of Washington School of Medicine, Seattle, Washington, United States.

Purpose Of Review: This chapter will summarize the most recent literature regarding the current state of medical treatment for vascular anomalies.

Recent Findings: Research into the biology of these anomalies has strengthened our understanding of each anomaly and has helped to pave the way for more tailored treatment options involving molecular and/or genetic targets.

Summary: While there is still a role for surgical intervention, medical therapies that target the etiology of vascular anomalies may represent an alternative or adjunctive approach in the management of these lesions. Read More

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June 2018
13 Reads

Infantile Hepatic Hemangioma.

J Pak Med Assoc 2018 Dec;68(12):1846-1847

Department of Radiology, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan.

Infantile hepatic hemangioma (IHH) historically called "hemangiomaendothelioma" refers to visceral manifestation of infantile hemangioma. The diagnosis of infantile hepatic hemangioma is primarily based on the radiological features. We present a case of 4 month old infant who presented with abdominal distention. Read More

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December 2018
3 Reads

CSF nerve growth factor (β-NGF) is increased but CSF insulin-like growth factor-(IGF-1) is normal in children with tuberous sclerosis and infantile spasms.

Eur J Paediatr Neurol 2018 Nov 14. Epub 2018 Nov 14.

School of Medicine, University of Eastern Finland, Kuopio, Finland. Electronic address:

Tuberous sclerosis is associated with epilepsy that is often refractory. We examined cerebrospinal fluid (CSF) concentrations for neurotrophins, nerve growth factor (β-NGF) and insulin-like growth factor (IGF-1) in children with infantile spasms between 1997 and 2010. We classified the patients as follows: tuberous sclerosis (n = 5), cryptogenic spasms (n = 6), postinfectious spasms (n = 5) and other symptomatic spasms (n = 22). Read More

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November 2018
1 Read

Infantile cortical hyperostosis manifesting as congenital unilateral proptosis.

Can J Ophthalmol 2018 Dec 7;53(6):e249-e252. Epub 2018 Mar 7.

Bristol Eye Hospital, Bristol, United Kingdom.

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December 2018
3 Reads

Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation.

J Stroke Cerebrovasc Dis 2018 Nov 28. Epub 2018 Nov 28.

Neurology Department, Bicêtre Hospital, Assistance Publique des Hôpitaux de Paris, (AP-HP), Paris, France.

PRRT2 gene mutations cause paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions, hemiplegic migraine, and episodic ataxia. A 21-year-old woman reported an episode of dizziness and ataxic gait occurring after swimming. Brain MRI showed a hyperintense cerebellar lesion on diffusion-weighted imaging (DWI) with decreased apparent diffusion coefficient. Read More

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November 2018
1 Read

Treating Infantile Spasms with High-Dose Oral Corticosteroids: A Retrospective Review of 87 Children.

Pediatr Neurol 2018 Oct 3;87:30-35. Epub 2018 Aug 3.

Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Baltimore, Maryland. Electronic address:

Background: Hormonal therapy is the treatment of choice in most patients with infantile spasms, but the optimal way to provide this therapy is unclear. Intramuscular adrenocorticotropic hormone (ACTH) has historically used first-line; however, there are significant logistical and financial issues. Our institution has used high-dose prednisolone as the first-line hormonal treatment of infantile spasms since 2006 and published our early experience with 15 infants in 2009. Read More

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October 2018
1 Read

High-Dose Prednisolone as a First-line Treatment for Infantile Spasms.

Authors:
John R Mytinger

Pediatr Neurol 2018 Oct 9;87:3-4. Epub 2018 Aug 9.

Division of Pediatric Neurology Nationwide Children's Hospital Ohio State University Columbus, Ohio. Electronic address:

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October 2018

A Large Infantile Capillary Hemangioma of the Eyelid with 5 Years Follow-up.

J Coll Physicians Surg Pak 2018 Dec;28(12):970-971

Department of Pathology, Khyber Medical College, Peshawar, Pakistan.

A five-day baby girl presented with a large mass involving the right upper and lower eyelid obstructing the visual axis completely. She was treated with intralesional triamcinolone acetonide injection under general anesthesia but no change in size of the tumor was observed. Oral beta blocker, propranolol, 1 mg/kg body weight, was given at three months. Read More

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December 2018
1 Read

Extracorporeal membrane oxygenation with prone position ventilation successfully rescues infantile pertussis: a case report and literature review.

BMC Pediatr 2018 Nov 30;18(1):377. Epub 2018 Nov 30.

Department of Critical Care Medicine, Shanghai Children's Hospital, Shanghai Jiao Tong University, No.355 Luding Road, Putuo District, Shanghai, 200062, China.

Background: Bordetella pertussis can cause fatal illness with severe acute respiratory distress syndrome (ARDS) and pulmonary hypertension (PHT).

Case Presentation: A 6-month-old non-vaccinated boy with B. pertussis infection who developed ARDS was treated by extracorporeal membrane oxygenation (ECMO). Read More

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November 2018
1 Read

Healthy Design and Urban Planning Strategies, Actions, and Policy to Achieve Salutogenic Cities.

Int J Environ Res Public Health 2018 Nov 29;15(12). Epub 2018 Nov 29.

Dipartimento di Ingegneria Civile Edile e Ambientale, Sapienza Università di Roma, 00184 Rome, Italy.

Starting from a previous experience carried out by the working group "Building and Environmental Hygiene" of the Italian Society of Hygiene and Preventive Medicine (SItI), the aim of the present work is to define new strategic goals for achieving a "Healthy and Salutogenic City", which will be useful to designers, local governments and public bodies, policy makers, and all professionals working at local health agencies. Ten key points have been formulated: 1. climate change and management of adverse weather events; 2. Read More

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November 2018

Probiotics on Pediatric Functional Gastrointestinal Disorders.

Nutrients 2018 Nov 29;10(12). Epub 2018 Nov 29.

Department of Pediatrics, University of Turku, 20521 Turku, Finland.

The potential association between gut microbiota perturbations and childhood functional gastrointestinal disturbances opens interesting therapeutic and preventive possibilities with probiotics. The aim of this review was to evaluate current evidence on the efficacy of probiotics for the management of pediatric functional abdominal pain disorders, functional constipation and infantile colic. Thus far, no single strain, combination of strains or synbiotics can be recommended for the management of irritable bowel syndrome, functional abdominal pain or functional constipation in children. Read More

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November 2018
1 Read

Amphiphile-Mediated Depalmitoylation of Proteins in Living Cells.

J Am Chem Soc 2018 Dec 5. Epub 2018 Dec 5.

Post-translational S-palmitoylation plays a central role in protein localization, trafficking, stability, aggregation, and cell signaling. Dysregulation of palmitoylation pathways in cells can alter protein function and is the cause of sev-eral diseases. Considering the biological and clinical im-portance of S-palmitoylation, tools for direct, in vivo mod-ulation of this dynamic lipid modification would be ex-tremely valuable. Read More

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December 2018

Efficacy and safety of oral atenolol for the treatment of infantile haemangioma: A systematic review.

Australas J Dermatol 2018 Dec 4. Epub 2018 Dec 4.

Division of Oncology, Department of Pediatric Surgery, West China Hospital of Sichuan University, Chengdu, China.

Recently, several studies have reported their experience in using oral atenolol in patients with infantile haemangioma (IH), especially as an alternative to propranolol, but the efficacy and safety of oral atenolol has not been evaluated. We searched PubMed (Medline), Central, Embase, Web of Science and EBSCOhost (until May 2018) for the eligible studies reporting more than 10 IH patients who were treated with oral atenolol with detailed original data, including outcomes, regimens and adverse events (AEs). The data was standardised and analysed by using R software with meta-package. Read More

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December 2018
1 Read

Response to Carbamazepine in KCNQ2 Related Early Infantile Epileptic Encephalopathy.

Indian J Pediatr 2018 Dec 5. Epub 2018 Dec 5.

Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.

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December 2018
0.920 Impact Factor

Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.

J Hum Genet 2018 Dec 4. Epub 2018 Dec 4.

Department of Pediatrics, School of Medical Sciences, University of Fukui, 23-3 Matsuoka-Shimoaizuki, Eiheiji-cho, Fukui, 910-1193, Japan.

Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder. Its clinical phenotypes are classified into the muscle, severe infantile, and lethal neonatal forms. Among Caucasians, the muscle form predominates, and the c. Read More

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December 2018

Kabuki syndrome: international consensus diagnostic criteria.

J Med Genet 2018 Dec 4. Epub 2018 Dec 4.

President, the Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Hokkaido, Japan.

Background: Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in or . Understanding the function of these genes opens the door to targeted therapies. The purpose of this report is to propose diagnostic criteria for KS, particularly when molecular genetic testing is equivocal. Read More

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December 2018
1 Read

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).

Mol Genet Metab 2018 Nov 29. Epub 2018 Nov 29.

Stony Brook University, School of Medicine, Stony Brook, NY, USA.

Background: Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, results from mutations in SMPD1, the gene encoding acid sphingomyelinase (ASM). As a result, sphingomyelin accumulates in multiple organs including spleen, liver, lung, bone marrow, lymph nodes, and in the most severe form, in the CNS and peripheral nerves. Clinical manifestations range from rapidly progressive and fatal infantile neurovisceral disease, to less rapidly progressing chronic neurovisceral and visceral forms that are associated with significant morbidity and shorter life span due to respiratory or liver disease. Read More

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November 2018
1 Read

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.

Mol Genet Metab 2018 Nov 28. Epub 2018 Nov 28.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

Porphyria Cutanea Tarda (PCT) is a cutaneous porphyria that results from the hepatic inhibition of the heme biosynthetic enzyme uroporphyrinogen decarboxylase (UROD), and can occur either in the absence or presence of an inherited heterozygous UROD mutation (PCT subtypes 1 and 2, respectively). A heterozygous UROD mutation causes half-normal levels of UROD activity systemically, which is a susceptibility factor but is not sufficient alone to cause type 2 PCT. In both Types 1 and 2 PCT, the cutaneous manifestations are precipitated by additional factors that lead to generation of an inhibitor that more profoundly reduces hepatic UROD activity. Read More

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November 2018
1 Read

Pneumococcal conjugate vaccine in children

Rev Prat 2017 12;67(10):1056-1058

Association clinique et thérapeutique infantile du Val-de-Marne, ACTIV, Saint-Maurdes- Fossés, France.

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December 2017

Thin polymeric films for the topical delivery of propranolol.

Colloids Surf B Biointerfaces 2018 Nov 12;174:582-586. Epub 2018 Nov 12.

Department of Food and Drug, Parco Area delle Scienze 27/A, Università di Parma, 43124, Parma, Italy. Electronic address:

Background/aims: Infantile hemangioma (IH), the most common benign tumor of childhood, is currently treated with propranolol. The aim of this work was to study in vitro propranolol permeation and skin retention from an original polymeric film, composed of polyvinyl alcohol and an acrylic polymer.

Methods: Propranolol polymeric films were applied in occlusive and non-occlusive conditions, on either full thickness skin or isolated epidermis. Read More

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November 2018
4 Reads

Risk management and provider liabilities in infantile cerebral palsy based on malpractice litigation cases.

J Forensic Leg Med 2018 Nov 25;61:82-88. Epub 2018 Nov 25.

Shanghai Jiao Tong University School of Public Health, China Hospital Development Institute of Shanghai Jiao Tong University, China. Electronic address:

Aim: Infantile cerebral palsy (CP) severely affects the survival and quality of life of infants. CP is typically caused by multiple factors, leading to causal uncertainty of the role of medical errors in CP and resulting in frequent medical disputes. No relevant research exists on risk management and malpractice liabilities in CP, including in China. Read More

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November 2018
2 Reads

miR-141 alleviates LPS-induced inflammation injury in WI-38 fibroblasts by up-regulation of NOX2.

Life Sci 2018 Nov 27. Epub 2018 Nov 27.

Neonatal Ward of Department of Pediatrics, Jining No. 1 People's Hospital, Jining 272011, China. Electronic address:

Aims: The roles of miR-141 in various types of cancers and inflammatory bowel diseases are researched, whereas, little information about its function in lung inflammation is available. This study was designed to explore the effect of miR-141 on inflammation injury in WI-38 cells, possibly providing basis for targeted therapeutic strategy for treatment of infantile pneumonia.

Main Methods: WI-38 cells were treated with LPS to construct cell model with inflammation injury. Read More

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November 2018
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Repurposing propranolol as an antitumor agent in von Hippel-Lindau disease.

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J Neurosurg 2018 Oct 1:1-9. Epub 2018 Oct 1.

OBJECTIVEVon Hippel-Lindau disease (VHL) is a tumor predisposition syndrome characterized by CNS hemangioblastomas (HBs) and clear cell renal cell carcinomas (RCCs) due to hypoxia-inducible factor activation (pseudohypoxia). Because of the lack of effective medical therapies for VHL, HBs and RCCs account for significant morbidity and mortality, ultimately necessitating numerous neurological and renal surgeries. Propranolol is an FDA-approved pan-beta adrenergic antagonist with antitumor effects against infantile hemangiomas (IHs) and possibly VHL HBs. Read More

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October 2018
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