Differences Sustained Between Diffuse and Limited Forms of Juvenile Systemic Sclerosis in an Expanded International Cohort.

Objective: To evaluate the baseline clinical characteristics of juvenile systemic sclerosis (SSc) patients in the international juvenile SSc inception cohort, and to compare these characteristics between the classically defined juvenile diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) subtypes and among those with overlap features.

Methods: A cross-sectional study was performed using baseline visit data. Information on demographic characteristics, organ system evaluation, treatment, and patient- and physician-reported outcomes was extracted and summary statistics applied.

New method for early evaluation of clitoris innervation using clitoro-perineal reflex after feminizing genitoplasty in early childhood: a pilot-study.

A major complication of feminizing genitoplasty in children is the loss of clitoral sensation with serious impact at adult life. We suggest a new method to evaluate the surgical results during childhood based on the bulbocavernosus or clitoro-perineal reflex (CPR). The afferent pathway of CPR implies the intact sensory receptors on the clitoral glans.

Exploring the relationships among professional quality of life, personal quality of life and resignation in the nursing profession.

Aim: To explore the relationships between nurses' quality of life, personal quality of life, intention to stay (ITS) and resign and factors related to resignation.

Design: Prospective cohort design.

Methods: The participants were recruited from three different levels of hospital in central Taiwan.

First report on the nationwide prevalence of paediatric type 1 diabetes in Serbia and temporal trends of diabetes ketoacidosis at diagnosis-a multicentre study.

We aimed to collect data on all paediatric patients who were diagnosed with type 1 diabetes mellitus (T1DM) between the years 2000 and 2019 in Serbia and estimate for the first time its prevalence. Also, the trends of diabetes ketoacidosis (DKA) occurrence at the time of diagnosis are monitored. We collected and retrospectively analysed the data of patients <19 years with newly diagnosed T1DM.

Fetal surgery for spina bifida in Zurich: results from 150 cases.

Purpose: Over the past 10 years, over 150 fetal spina bifida surgeries were performed at the Zurich Center for Fetal Diagnosis and Therapy. This study looks at surrogates for success and failure of this approach.

Methods: We focused on key outcome parameters including hydrocephalus shunt rate at one year, bladder control at 4, independent ambulation at 3 years, and maternal, fetal, and neonatal complications.

Green coffee methanolic extract and silymarin protect against CCl4-induced hepatotoxicity in albino male rats.

Background: During the last few decades, patients worldwide have been interested in using alternative medicine in treating diseases to avoid the increased side effects of chemical medications. Green coffee is unroasted coffee seeds that have higher amounts of chlorogenic acid compared to roasted coffee. Green coffee was successfully used to protect against obesity, Alzheimer disease, high blood pressure and bacterial infection.

Newborn with complete double penis and two separate scrotums: A case report.

Introduction: We present a newborn with double penis and double scrotum as a part of a caudal duplication syndrome (CDS) which is a condition includes duplication of the distal organs of the body. It is crucial to have knowledge about it to be able to be identified.

Presentation: A male newborn presented with double penis, double scrotum double urethra, double colon, and double imperforate anus.

Epidemiology and precision of SARS-CoV-2 detection following lockdown and relaxation measures.

Objectives: Detecting severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is key to the clinical and epidemiological assessment of CoVID-19. We cross-validated manual and automated high-throughput testing for SARS-CoV-2-RNA, evaluated SARS-CoV-2 loads in nasopharyngeal-oropharyngeal swabs (NOPS), lower respiratory fluids, and plasma, and analyzed detection rates after lockdown and relaxation measures.

Methods: Basel-S-gene, Roche-E-gene, and Roche-cobas®6800-Target1 and Target2 were prospectively validated in 1344 NOPS submitted during the first pandemic peak (Week 13).

Analysis of dynamic elbow flexion deformity in children with hemiplegic cerebral palsy.

Background: Cerebral palsy affects 1 per 1.000 children, and in 83% of the cases upper extremity is involved. Dynamic elbow flexion deformity is a movement disorder observed in individuals with hemiparesis secondary to cerebral palsy.

Type IIb Heat Labile Enterotoxin B Subunit as a Mucosal Adjuvant to Enhance Protective Immunity against H5N1 Avian Influenza Viruses.

Human infections with highly pathogenic avian influenza H5N1 viruses persist as a major global health concern. Vaccination remains the primary protective strategy against H5N1 and other novel avian influenza virus infections. We investigated the use of type IIb heat labile enterotoxin B subunit (LTIIb-B5) as a mucosal adjuvant for intranasal immunizations with recombinant HA proteins against H5N1 avian influenza viruses.

A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.

At least 14 distinctive PEX genes function in the biogenesis of peroxisomes. Biallelic alterations in the peroxisomal biogenesis factor 12 (PEX12) gene lead to Zellweger syndrome spectrum (ZSS) with variable clinical expressivity ranging from early lethality to mildly affected with long-term survival. Herein, we define 20 patients derived from 14 unrelated Egyptian families, 19 of which show a homozygous PEX12 in-frame (c.

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Noninvasive assessment of liver fibrosis in children with chronic hepatitis C: Shear wave elastography and APRI versus liver biopsy.

Background And Study Aims: Hepatitis C virus (HCV) is a major cause of chronic hepatitis. Although liver histopathological examination remains the reference standard for liver fibrosis assessment, noninvasive means of assessment such as shear wave elastography (SWE) and aspartate aminotransferase-platelet ratio index (APRI) have been developed to reduce the need for biopsy. We evaluated the efficacy of SWE and APRI versus liver biopsy for liver fibrosis assessment in children with chronic HCV infection.

Genetic study of pediatric hypertrophic cardiomyopathy in Egypt.

Paediatric cardiomyopathy is a progressive and often lethal disorder and the most common cause of heart failure in children. Despite their severe outcomes, their genetic etiology is still poorly characterised. The current study aimed at uncovering the genetic background of idiopathic primary hypertrophic cardiomyopathy in a cohort of Egyptian children using targeted next-generation sequencing.

Pedicled vascularized bone grafts compared with xenografts in the treatment of scaphoid nonunion.

Introduction: Fractures of the scaphoid account for 60-70% of all wrist bone fractures. The results of treatment in terms of bone healing vary depending on the type and location of the fracture, the time elapsed since the injury, the type of surgical treatment. Nonunion occurs in 5-15% of the cases on average.

Factors Associated With In-hospital Mortality of Children With Acute Fulminant Myocarditis on Extracorporeal Membrane Oxygenation.

To analyze the factors associated with in-hospital mortality of children with acute fulminant myocarditis on venoarterial extracorporeal membrane oxygenation (VA-ECMO). This was a retrospective cohort study using chart reviews of patients diagnosed with acute fulminant myocarditis at the pediatric intensive care unit of two tertiary medical centers between January 1, 2005 and December 31, 2017. The inclusion criteria for this study were: (1) age from 1 month to 18 years; (2) diagnosed with acute myocarditis; (3) cardiogenic shock and need vasoactive-inotropic score ≥20 within 48 h after the use of vasoactive-inotropic agents; and (4) the need for ECMO placement.

Interstitial Lung Disease in Children With Selected Primary Immunodeficiency Disorders-A Multicenter Observational Study.

Primary immunodeficiencies (PIDs) are rare disorders of the immune system encompassing inborn errors of immunity. Primary antibody deficiencies constitute the largest group of PID with common variable immunodeficiency (CVID) being the most common symptomatic form. Combined immunodeficiencies (CID) accompanied by antibody deficiency can mimic CVID and these patients need the verification of the final diagnosis.

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.

Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction. We report five homozygous null mutations in MTX2, encoding Metaxin-2 (MTX2), an outer mitochondrial membrane protein, in patients presenting with a severe laminopathy-like mandibuloacral dysplasia characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis and severe hypertension. Loss of MTX2 in patients' primary fibroblasts leads to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment.

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

Trafficking protein particle (TRAPP) complexes, which include the TRAPPC4 protein, regulate membrane trafficking between lipid organelles in a process termed vesicular tethering. TRAPPC4 was recently implicated in a recessive neurodevelopmental condition in four unrelated families due to a shared c.454+3A>G splice variant.