segregation error of maternal reciprocal translocation t(9;13) (p21;q12). Conclusion Balanced reciprocal translocations in either parents can amplify and produce unbalanced gamets leading to defective conceptus. Prenatal diagnosis is strongly recommended where balanced translocation is found in parent. Clinical features of the affected conceptus depends largely on the regions of chromosome involved.
then spread to the entire body including limbs. It was itchy. The family are originally from Quebec and had been residing in Ireland for the past 2 years in relation to the father's occupation. Contact with infectious disease and recent travel were denied. He had never been hospitalised and had no medical diagnoses .His mother was adamant that all vaccinations were up to date and included the Varicella vaccine at one year of age in Canada. He had no known allergies and was not taking any medications.On examination he had multiple vesicular and pustular lesions with an erythematous base. Some lesion had necrotic centres. There were some vesicles on his lower lip, buccal mucosa and also on the throat.His WCC was 2.08, Neutrophils 0.73, Lymphocytes 0.73, CRP 20. Influenza, RSV and Monospot were negative.He was initially treated with IV Augmentin and Flucloxacillin for a presumed diagnosis of Impetigo. More lesions appeared over his trunk and abdomen over the subsequent 24 hours although he was not systemically unwell. The Dermatologist made a clinical diagnosis of 'Chicken Pox'. He was discharged home on an immunocompetent dose of oral acyclovir pending results of skin swab, throat swabs and Varicella titre.At follow up one week later he was clinically well with multiple healing lesions. His Varicella titres were high confirming a diagnosis of Varicella Zoster infection. His mother brought with her his vaccination records from Canada which showed that he had received only one dose of the Varicella vaccine and had missed the booster. This is in contrast to his siblings who were fully vaccinated and did not develop Varicella despite close contact. Conclusion Common conditions are common. Vaccines can fail. Parents should be encouraged to keep detailed records of all vaccinations including boosters and to follow through with booster vaccines when indicated.
Aim of the study was to investigate influence of iron deficiency on severity and control of asthma in children.We have examined 227 children aged 6 to 17 years, patients with asthma. The average age of the surveyed patients amounted to (9.87 ± 0.22) years. The diagnosis of asthma was established in accordance with ICD 10 and order of the Ministry of Health of Ukraine on asthma in children no 868 from 08.10.2013 with the recommendations of the 'Global Initiative on Bronchial Asthma' (GINA, 2018). The work started after receiving the consent of the patient and his parents to participate in the study in compliance with the provisions of the UN Convention on the Rights of the Child. Materials of the study do not deny the international Code of Medical Ethics (1983) and the laws of Ukraine correspond to the basic bioethical norms of the Helsinki Declaration, adopted by the General Assembly of the World Medical Association, the Council of Europe Convention on human Rights and Biomedicine (1977).CBC with morphometric parameters (MCV, MCH, MCHC, RBC, RDW, HCT) was performed with the help of Hematologic Analyzer Gobas Micros 18. Iron complex (serum iron, ferritin, transferrin receptors and sTfR/log ferritin) ELISA kits. Statistical methods (SPSS Statistic 20th edition).In assessing the risk of asthma in various severity depending on the serum iron content, there is definitely a significant increase in chances that the persistence of moderate to moderate and severe degrees in children with iron content in blood less than 10 mmol/L in 1.537 (OR = 1.537; 95% CI 1.061 -3.106) and 2.375 (OR = 2.375; 95% CI 1.870 -6.482) times respectively.While children with no iron deficiency grew the chances of persistent mild asthma in 1.916 times (OR = 1.916; 95% CI 1.696 -5.271).The level of control of progress of the asthma also depended on the iron content of serum. Thus, the risks of uncontrolled asthma have increased 7.852 times in children with existing iron deficiency (less than 10 mmol/l) (OR = 7.852; 95% CI 3.050 -20.213). Children with iron deficiency reliably decreased the chances of controlled asthma in 1.472 times (OR = 0.528; 95% CI 0.414 -0.673), and in children with normal serum iron, the chances of a high level control of a course of asthma increased by 4.146 times (OR = 4.146;.In children with an asthma, iron deficiency reliably decreased the chances of controlled disease compared with patients with normal serum iron in 1.472 times.
Methods We describe the clinical presentation, results of laboratory and radiological investigations, treatment and outcome to date.A review of current available literature on this topic was also undertaken. Results An 8 year old boy presented to the PED with severe nausea and vomiting with a cyclical pressure type right upper quadrant pain for 7 hours. On presentation the pain had reduced significantly. No symptoms of infection, no concerning vomit contents, diarrhoea or constipation.This was the 10th similar episode in the previous 2 months. Previous investigations including blood panel, urine were normal and symptoms had resolved on attendance.No abnormality was found on clinical exam. Abdominal ultrasound demonstrated a large right sided hydronephrosis secondary to PUJO confirmed by CT KUB. A renogram demonstrated a partial obstruction and surgical management was planned electively. Conclusion Our patient had experienced multiple episodes of Dietl's Crisis which had resolved independently. PUJO is not a common first time presentation in children of this age. We suggest that Paediatricians consider this diagnosis when the other more common differentials have been outruled while being mindful that clinical examinations, radiological and labaroratory investigations may be normal in between episodes of Dietl's crises.
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