Pediatric COVID-19: Correlations between Clinical and Imaging Perspectives.

Background: Although SARS-CoV-2 infection primarily affects adults, the increasing emergence of infected pediatric patients has been recently reported. However, there is a paucity of data regarding the value of imaging in relation to the clinical severity of this pandemic emergency. Objectives: To demonstrate the relationships between clinical and radiological COVID-19 findings and to determine the most effective standardized pediatric clinical and imaging strategies predicting the disease severity. Patients and Methods. This observational study enrolled eighty pediatric patients with confirmed COVID-19 infection. The studied patients were categorized according to the disease severity and the presence of comorbidities. Patients' clinical findings, chest X-ray, and CT imaging results were analyzed. Patients' evaluations using several clinical and radiological severity scores were recorded. The relations between clinical and radiological severities were examined. Results: Significant associations were found between severe-to-critical illness and abnormal radiological findings (p = 0.009). In addition, chest X-ray score, chest CT severity score, and rapid evaluation of anamnesis, PO2, imaging disease, and dyspnea-COVID (RAPID-COVID) score were significantly higher among patients with severe infection (p < 0.001, <0.001, and 0.001) and those with comorbidities (p = 0.005, 0.002, and <0.001). Conclusions: Chest imaging of pediatric patients with COVID-19 infection may be of value during the evaluation of severe cases of infected pediatric patients and in those with underlying comorbid conditions, especially during the early stage of infection. Moreover, the combined use of specific clinical and radiological COVID-19 scores are likely to be a successful measure of the extent of disease severity.

Ventrally Fused Conjoined Twins (Omphaloischiopagus): A Roadmap to Successful Separation.

Conjoined twining is one of the most fascinating and challenging situations which a pediatric surgeon may face in his career. Only few surgeons may have the opportunity to share in separation of such cases. In this report, we aim to share our experience with the successful separation of ventrally fused male conjoined twins (omphaloischiopagus). The case was thoroughly studied via preoperative cross-sectional imaging modalities (magnetic resonance imaging [MRI] and computed tomography [CT] angiography), complemented by data obtained from reviewing similar cases in the literature. A clear delineation of the complex anatomy was achieved preoperatively which proved to be well consistent with the operative findings. A detailed description of the operative procedure to divide/redistribute the shared abdominal/pelvic organs between both twins is provided. To the best of our knowledge, this is the first report to describe the detailed and unique internal anatomy of a common central phallus associating ischiopagus conjoined twins. The penis was centrally located in the perineum in between both twins with an open urethral plate. This common phallus had a peculiar configuration with four crura anchoring ischial bones of both twins together.

Stress levels and coping strategies among Jordanian parents caring for newly diagnosed children with leukemia: A cross sectional descriptive correlational study.

The purpose of this study was to describe the stress experienced and coping approaches exhibited by Jordanian parents of children recently diagnosed with leukemia.This cross-sectional study collected data from parents of children who had been diagnosed with leukemia within the previous three months (N = 130; 57 fathers (43.8%) and 73 mothers (56.2%), age (Mean = 37.5, SD = 8.4)). The Parenting Stress Index-Short Form was used. Similarly, parents' coping approaches were assessed with the Coping Health Inventory for Parents.Parents' mean total stress and coping strategies scores were 108 (± 26.8) and 93.9 (± 15.6), respectively. There were significant negative relationships between parents' stress levels and age (r = -0.46, p = .01), education level (f = 28.5, p < .05), and income (r = -0.65, p = .01). Additionally, there were significant positive relationships between parents' coping strategies and age (r = 0.34, p = .01) and income (r = 0.53, p < .01). There were non-significant differences between fathers' and mothers' stress levels and coping strategies.Parents of children with leukemia experienced high stress. The findings also confirmed the negative relationship between parents' stress, age, education level, and income; and the positive relationship between parents' coping strategies, age, and income.Several strategies are needed to manage said stress; for example, respite care for parents who spend long hours at the hospital. Volunteers to care for children at home or hospital might also relieve parents' stress.

Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.

Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Untreated patients suffer primarily from severe striatal damage. More than 250 variants in the GCDH gene have been reported with a variable frequency among different ethnic groups. In this study, we aimed to characterize 89 Egyptian patients with GA1 and identify the variants in the 41 patients who were available for genotyping. All of our patients demonstrated clinical, neuroradiological, and biochemical characteristics that are consistent with a diagnosis of GA1. All patients presented with variable degrees of developmental delay ranging from mild to severe. Most of the 89 patients presented with acute onset type (71.9%), followed by insidious (19%) and asymptomatic (9%). A delay in diagnosis was inversely associated with macrocephaly. The prevalence rate ratio (PR) for macrocephaly that was associated with each 6-month delay was 0.95 (95%CI 0.91-0.99). However, high body weight was associated with a higher likelihood of having macrocephaly (PR 1.16, 95%CI 1.06-1.26 per 1 SD increment of Z score weight). However, body weight was inversely associated with the morbidity score. Consanguinity level was 64% among our patient's cohort and was positively associated with the C5DC level (ß (95%CI) 1.06 (0.12-1.99)). Forty-one patients were available for genotyping and were sequenced for the GCDH gene. We identified a total of 25 variants, of which the following six novel variants were identified: three missense variants, c.320G > T (p.Gly107Val), c.481C > T (p.Arg161Trp) and c.572 T > G (p.Met191Arg); two deletions, c.78delG (p.Ala27Argfs34) and c.1035delG (p.Gly346Alafs*11); and one indel, c.272_331del (p.Val91_Lys111delinsGlu). All of the novel variants were absent in the 300 normal chromosomes. The most common variant, c.*165A > G, was detected in 42 alleles, and the most commonly detected missense variant, c.1204C > T (p.Arg402Trp), was identified in 29 mutated alleles in 15/41 (34.2%) of patients. Our findings suggest that GA1 is not uncommon organic acidemia disease in Egypt; therefore, there is a need for supporting neonatal screening programs in Egypt.

Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.

Aicardi-Goutières syndrome (AGS) is one of the expanding group of inherited congenital infection like syndromes. Here, we describe the detailed clinical and imaging findings of two sibs with AGS. Each shows scattered periventricular intracranial calcifications, severe global delay, seizures, microcephaly and spasticity. Interestingly, chilblains were observed in the two sisters as well as their parents and a paternal uncle. The brain MRI of the older sister showed marked ventricular dilatation as a result of unusual associated porencephalic cysts. Unexpectedly, unilateral cerebellar hypoplasia was also noted. In comparison, her younger sister displayed the classic atrophic changes and white matter loss of AGS. The diagnosis of AGS was confirmed by sequence analysis, which identified a previously reported homozygous RNASEH2B mutation, c.554 T > G (p.V185G). Parents were heterozygous for the same mutation. Further molecular analysis excluded mutations in potentially related manifestations of COL4A1 gene. This is the first report of chilblains associated with heterozygous RNASEH2B mutation. Further, the brain imaging findings appear particularly interesting, which until now has not been reported in any AGS patient. We discuss the possible reasons for this unusual presentation.

Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.

To characterize an Egyptian patient with glutaric acidemia type I (GA I) and to identify the causative mutation(s) that may be responsible for the disease phenotype. MRI was performed on the patient using the 1.5 T magnet, biochemical analysis was carried out using gas chromatography/mass spectrometry on the patient's dried blood spot, and the patient's organic acids were measured in dried blood and a urine sample using MS/MS and GC/MS, respectively. Total RNA was isolated from the patient's peripheral blood, and the synthesized cDNA was bi-directionally sequenced. The patient exhibited clinical features and MRI findings compatible with a diagnosis of GA I. The abnormal elevation of organic acids in the urine supported the presence of glutaryl-CoA dehydrogenase deficiency. Gene sequencing revealed a novel homozygous frameshift mutation, c.644_645insCTCG; p.(Pro217Leufs*14), in exon 8 of the GCDH gene. The present study revealed a novel frameshift mutation responsible for a severe GA I phenotype in an Egyptian patient. This novel mutation will ultimately contribute to a better understanding of the molecular pathology of the disease and shed light on the intricacies of the genotype-phenotype correlation of GA I disease.

Y-Type Urethral Duplication: A True Variant of the Anomaly or a Misnomer?

Objectives The objective of this study was to define anatomical and radiological features of the so-called Y-type urethral duplication. Methods The study included four male patients and one female patient with congenital connection between the urogenital tract and the external anal orifice. Investigations included renal sonography, urethrograms, and magnetic resonance imaging pelvis in the last patient. The urethrograms of male patients were carefully reviewed, in addition to available urethrograms of similar cases that could be obtained through searching the literature. Results Unlike cases of urethral duplication, the male patients had always a complete prepuce and a functioning anterior urethra in 25%. The accessory uroanal channel had almost always a constant origin from the posterior urethra. Some tension seems to be exerted by the urethroanal tract pulling on and causing a kink in the posterior urethra. Management was simple in patients without anterior urethral hypoplasia (one male and the female patient). Both were treated by simple excision of the communicating ano-urogenital tract through a perineal approach with an excellent outcome. Histopathological examination of excised tracts revealed stratified squamous cell in the former and transitional cell lining in the latter. In patients with hypoplastic anterior urethra, staged urethral reconstruction was performed in two, and progressive dilatation of hypoplastic anterior urethra was tried in the last patient. Conclusion Several observations would support diagnosing the congenital connection between the urinary tract and the external anal orifice in the male as a congenital fistula rather than an accessory urethra. Confirming and accepting this information may have its impact on changing the current surgical approach.

Effective control of polymyalgia rheumatica with tocilizumab.

Despite their disadvantages, glucocorticoids (GCs) remain a mainstay of therapy for polymyalgia rheumatica (PMR). Second-line antirheumatic and immune-modulatory drugs are not infrequently required because of disease relapses during GC tapering and GC adverse effects. Therapy with methotrexate or with an anti-tumor necrosis factor drug showed modest efficacy in this situation. Tocilizumab (TCZ) is an anti-interleukin 6 receptor antibody that is being recently studied in the treatment of PMR patients who are intolerant or refractory to GCs, especially after failure of a second-line agent. We report a case of PMR in which GCs were stopped because of adverse effects despite good response. The condition responded to neither methotrexate nor etanercept. Treatment with TCZ has led to significant improvement of the patient's clinical and biochemical PMR activity parameters, and she was kept in a solid remission for 1 year without any TCZ-related adverse effects. Tocilizumab is a promising drug in the management of PMR. Further studies are required to clearly define the indications and duration of TCZ therapy in the management of PMR.