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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

J Dermatol 2018 Dec 7. Epub 2018 Dec 7.

Department of Dermatology, Graduate School of Medicine, Mie University, Tsu, Japan.

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

Pediatr Int 2018 Nov;60(11):1045-1046

Department of Hematology and Oncology, Miyagi Children's Hospital, Sendai, Miyagi, Japan.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Bristol Eye Hospital, Bristol, United Kingdom.

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

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

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:

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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

Nutrition 2018 Aug 20;59:116-120. Epub 2018 Aug 20.

Department of Pediatrics, Navarra Hospital Complex, Pamplona, Spain; Navarra Institute for Health Research (IdisNA), Pamplona, Spain.

Objective: One of the main objectives in the treatment of childhood obesity is to reduce the percentage of body fat mass without negatively affecting fat-free mass (FFM) and, consequently, longitudinal growth. The aim of this study was to analyze the changes that take place in body compartments in a group of patients with obesity under combined treatment.

Methods: This was a longitudinal study with 109 children with obesity 9. Read More

Eye Contact Lens 2018 Nov 22. Epub 2018 Nov 22.

Division of Ophthalmology, Department of Visual Sciences, Nihon University School of Medicine, Tokyo, Japan.

This study is a retrospectively recruited case series. We report three infants with acute conjunctivitis induced by β-lactamase-positive, ampicillin/clavulanic acid-resistant strains of Haemophilus influenzae (BLPACR). Patients with BLPACR-positive cultures were recruited from among 5,107 patients with inflammatory diseases of the ocular surface who underwent examinations, including bacterial culturing of conjunctival sac or corneal scrapings, between 2000 and 2015. Read More

J Paediatr Child Health 2018 Nov 28. Epub 2018 Nov 28.

Department of Paediatrics, Emirates Hospital, Dubai, United Arab Emirates.

Introduction: Infantile colic is a major parenthood challenge. For medical practitioners, even at the highest specialised levels, the management is never less challenging. This is a case report of two sisters who presented with typical symptoms of infantile colic. Read More

Orphanet J Rare Dis 2018 Nov 29;13(1):216. Epub 2018 Nov 29.

Department of Pediatrics, Division of Neurology, University of Toronto, Toronto, Canada.

Background: Infantile spasms represent the catastrophic, age-specific seizure type associated with acute and long-term neurological morbidity. However, due to rarity and heterogenous determination, there is persistent uncertainty of its pathophysiological and epidemiological characteristics. The purpose of the current study was to address a historically suspected latitudinal basis of infantile spasms incidence, and to interrogate a geographical basis of epidemiology, including the roles of latitude and other environmental factors, using meta-analytic and -regression methods. Read More

Contact Dermatitis 2018 Nov 28. Epub 2018 Nov 28.

Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy.

Allergic contact dermatitis (ACD) caused by timolol eyedrops is well-known (1, 2) while ACD following its use for infantile hemangiomas has hitherto not been reported. Read More

Indian J Pediatr 2018 Nov 28. Epub 2018 Nov 28.

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.

Cardiomyopathy is an etiologically heterogeneous condition, and non-syndromic as well as syndromic genetic causes are identified in a significant proportion of cases without a known acquired cause. The present report describes a 2-mo-old boy who presented initially with a referral diagnosis of isolated dilated cardiomyopathy, without any associated dysmorphism or malformations, and with history of similar cardiac disease and early infantile death in an elder male sibling. Next generation sequencing (NGS) based multigene panel testing of the cardiomyopathy-associated genes was done which revealed the diagnosis of Alström syndrome, based on which appropriate management and surveillance could be planned for the child and accurate genetic counseling could be provided to the parents. Read More

Front Microbiol 2018 13;9:2682. Epub 2018 Nov 13.

Department of Pediatrics, The Third Hospital of Hebei Medical University, Shijiazhuang, China.

Cholestasis is a major hepatic disease in infants, with increasing morbidity in recent years. Accumulating evidence has revealed that the gut microbiota (GM) is associated with liver diseases, such as non-alcoholic steatohepatitis, cirrhosis, and hepatocellular carcinoma. However, GM alterations in cholestatic infants and the correlation between the GM and hepatic functions remain uninvestigated. Read More

Eur J Paediatr Neurol 2018 Sep 29. Epub 2018 Sep 29.

Division of Neuropediatrics and Developmental Medicine, University Children's Hospital Basel, Spitalstrasse 33, 4056 Basel, Switzerland.

Gait and its associations with prewalking motor milestones, motor skills, and age were investigated in 32 children with infantile/atypical autism and 36 typically developing controls. Gait was assessed using GAITRite recordings of spatiotemporal and variability gait parameters. Parents reported their child's prewalking motor milestones. Read More

Clin Transl Allergy 2018 23;8:47. Epub 2018 Nov 23.

1Allergy Center, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo, 157-8535 Japan.

Background: Atopic dermatitis is the first clinical manifestation of the atopic march, with the highest incidence in the first year of life. Those affected often go on to develop other allergic diseases including food allergy, asthma, and allergic rhinitis. Recent evidence suggests that sensitization to foods may occur through a defective skin barrier which is common in atopic dermatitis in early life. Read More