Skin Eruptions in Acute Hemorrhagic Edema of Young Children: Systematic Review of the Literature.

Background: Acute hemorrhagic edema is a skin-limited small-vessel leukocytoclastic vasculitis, which affects infants 4 weeks to 2 years of age and remits within 3 weeks. The diagnosis is made clinically in not-ill appearing children with acute onset of raised annular or nummular eruptions and edema. In this vasculitis, type, distribution, and evolution of the rash have never been systemically investigated.

Atypical Bacterial Pathogens and Small-Vessel Leukocytoclastic Vasculitis of the Skin in Children: Systematic Literature Review.

Leukocytoclastic small-vessel vasculitis of the skin (with or without systemic involvement) is often preceded by infections such as common cold, tonsillopharyngitis, or otitis media. Our purpose was to document pediatric (≤18 years) cases preceded by a symptomatic disease caused by an atypical bacterial pathogen. We performed a literature search following the Preferred Reporting of Systematic Reviews and Meta-Analyses guidelines.

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

IQSEC2 mutations are associated with IQSEC2-related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by the increasing number of reported cases although the genotype-phenotype relationship for IQSEC2 remains overall complex. As for IQSEC2-related ID a wide phenotypic diversity has been described in Rett syndrome (RTT).

De novo missense variants in are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.

Objective: To determine the potential disease association between variants in and complex multisystem neurological and developmental delay phenotypes.

Methods: Here we describe a series of de novo missense variants in in 10 unrelated individuals with overlapping features. Exome sequencing or genome sequencing was performed on all individuals, and the cohort was assembled through GeneMatcher.

Immune deposits in skin vessels of patients with acute hemorrhagic edema of young children: A systematic literature review.

Background: Acute hemorrhagic edema of young children is a benign skin-limited vasculitis mainly affecting children 2 to 24 months of age, which is often considered the infantile variant of immunoglobulin A vasculitis (Henoch-Schönlein purpura). In most cases, the diagnosis is made on a clinical basis without a skin biopsy.

Methods: A systematic review of the literature was performed to examine the reported prevalence of vascular immune deposits in skin biopsies of patients with acute hemorrhagic edema of young children.

Effects of multiwalled carbon nanotubes and carbofuran on metabolism in Astyanax ribeirae, a native species.

The study of the toxic effect of carbofuran and multiwalled carbon nanotubes (MWCNTs) on Astyanax ribeirae metabolism is of paramount importance due to the increasing use of this pesticide in agriculture and in the production of nanotubes within the material industry. This study aimed to evaluate the effects of carbofuran, MWCNT, and the combination of these compounds on specific oxygen consumption and excretion of ammonia in A. ribeirae.

Sporadic acute benign calf myositis: Systematic literature review.

Acute benign calf myositis is a rare infection-associated syndrome presenting with calf pain that occurs in epidemics or sporadically. Epidemic cases are usually associated with influenza virus type B. Sporadic cases, however, might be associated with a large number of microorganisms.

Familial Henoch-Schönlein Syndrome.

Little attention has been so far paid to familial cases of Henoch-Schönlein syndrome. We performed a search of the Medical Subject Headings terms (Henoch or Schönlein OR anaphylactoid purpura OR IgA nephropathy OR Berger nephropathy) AND (family OR familial). We identified no more than 19 reports including 47 families with a total of 100 affected cases: their ages ranged from 1.

Acute hemorrhagic edema of young children: a prospective case series.

Unlabelled: Acute hemorrhagic edema of young children is a rare leukocytoclastic vasculitis that has been reported exclusively in small retrospective cases series, case reports, or quizzes. Considering that retrospective experience deserves confirmation in at least one observational prospective study, we present our experience with 16 children (12 boys and 4 girls, 5-28 months of age) affected by acute hemorrhagic edema. The patients were in good general conditions and with a low-grade or even absent fever.

Taste acceptability of pulverized brand-name and generic drugs containing amlodipine or candesartan.

Trials with pulverized brand-name antihypertensive drugs suggest that, from the perspective of taste acceptability, crushed candesartan, chlortalidon, hydrochlorothiazide, lercanidipine and lisinopril should be preferred to pulverized amlodipine, atenolol, bisoprolol, enalapril, irbesartan, losartan, ramipril, telmisartan and valsartan. Brand-name antihypertensive drugs and the corresponding generic medicines have never been compared with respect to their taste acceptability. We therefore investigated among healthy health care workers the taste acceptability of a pulverized 1 mg-test dose of the brand-name and two generics containing either the dihydropyridine calcium-channel blocker amlodipine (Norvasc(®), Amlodipin-Mepha(®) and Amlodipin Pfizer(®)) or the angiotensin receptor antagonist candesartan (Atacand(®), Cansartan-Mepha(®) and Pemzek(®)).

Influenzavirus B-associated acute benign myalgia cruris: an outbreak report and review of the literature.

Acute benign myalgia cruris is characterized by transient bilateral calf pain that leads to difficulty walking. A regional outbreak of influenza virus B-associated myalgia cruris was observed during the seasonal influenza outbreak observed in Switzerland from week 1 to 13 of 2013. We performed a prospective case finding among the Swiss-Italian pediatric emergency units and pediatricians.

Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.

Frontonasal dysplasia (FND) is a genetically heterogeneous malformation spectrum with marked hypertelorism, broad nasal tip and bifid nose. Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with craniosynostosis in addition, and more recently the aristaless-like homeobox genes ALX3, ALX4, and ALX1, which have been related with distinct phenotypes named FND1, FND2, and FND3 respectively. We here report on a female patient presenting with severe FND features along with partial alopecia, hypogonadism and intellectual disability.

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

We report on the clinical and molecular characterization of eight patients, one male and seven females, with clinical diagnosis of Cornelia de Lange syndrome (CdLS), who were found to carry distinct mutations of the SMC1A gene. Five of the eight mutations are novel, with two involving amino acid residues previously described as altered in a different way. The other three have been reported each in a single case.

Ureteral or vesical involvement in Henoch-Schönlein syndrome: a systematic review of the literature.

Background: Little information is available on ureteral or vesical involvement in Henoch-Schönlein syndrome. To determine the features of this condition we performed a formal analysis of peer-reviewed scientific literature on this topic.

Methods: The US National Library of Medicine database was used as the data source.

What can we do to make antihypertensive medications taste better for children?

More and more data indicate the importance of palatability when selecting drugs for children. Since hypertension is uncommon in children, no child-friendly palatable formulations of these agents are currently available. As a consequence, in everyday practice available tablets are crushed and administered mixed with food or a sweet drink.

Primary hypertension in childhood.

There is growing concern about elevated blood pressure in children and adolescents, because of its association with the obesity epidemic. Moreover, cardiovascular function and blood pressure level are determined in childhood and track into adulthood. Primary hypertension in childhood is defined by persistent blood pressure values ≥ the 95th percentile and without a secondary cause.

Regional differences in symptomatic fever management among paediatricians in Switzerland: the results of a cross-sectional Web-based survey.

Aims: In symptomatic fever management, there is often a gap between everyday clinical practice and current evidence. We were interested to see whether the three linguistic regions of Switzerland differ in the management of fever.

Methods: A close-ended questionnaire, sent to 900 Swiss paediatricians, was answered by 322 paediatricians.