Should children with infection be tested for lipid,lipoprotein and apolipoprotein?

The lipid profile is known to alter in patients with infection, but there has not been a study of the apolipoprotein levels in serum of otherwise healthy children during infection. Lipids, lipoproteins, apolipoproteins A-l and B and lipoprotein (a) were evaluated prospectively in 31 consecutive children, aged4–15 years, who were admitted to the hospital with bacterial pharyngitis. The degree of dyslipidemia associated with bacterial pharyngitis was assessed using each child as his/her own control and by comparison with 79 healthy children who had not had an infection during the past 3 months. Serum total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, apolipoprotein A-l and apolipoprotein B levels were significantly decreased during the symptomatic phase of the disease, whereas the serum triglyceride level was slightly elevated. Serum lipoprotein (a) concentration did not change significantly. In conclusion, it is suggested that serum lipids, lipoproteins and apolipoproteins should not be assessed during infection because of the possible transient changes of these parameters during infection or inflammation.     

Fulminant Ocular Toxoplasmosis: The Hazards of Corticosteroid Monotherapy

Purpose: To describe fulminant toxoplasma retinochoroiditis induced by corticosteroid monotherapy.

Methods: Clinical records of nine patients were reviewed.

Results: All patients (five female, four male; aged 15–64 years) had been misdiagnosed as unilateral non-infectious uveitis and given systemic and/or local corticosteroid injections elsewhere. Mean disease duration before referral was 105.6 ± 71 (45–240) days. Visual acuity at presentation was <20/200 in six eyes. Average lesion size was 6.6 disc areas in eight eyes and all four quadrants were involved in one. Toxoplasma DNA was detected in eight tested eyes. Mean duration of anti-toxoplasmic therapy was 92.5 ± 37.1 days. Three eyes developed rhegmatogenous retinal detachment. Four patients underwent pars plana vitrectomy. Final visual acuity was <20/200 in five eyes.

Conclusions: Iatrogenic immunosuppression due to initial misdiagnosis may lead to an aggressive course and serious complications of ocular toxoplasmosis, a potentially self-limiting infection.     

Life experiences of women with breast cancer in south western Turkey: A qualitative study

PurposeThis qualitative study explores the experience of women living with breast cancer.MethodsThe study was conducted among eight women with ongoing breast cancer chemotherapy treatment, which occurred in an ambulatory unit. The data were collected using semi-structured and in-depth individual interviews. All interviews were tape-recorded, and the results were obtained by analysing the content of the recorded data.ResultsThree major themes related to the experiences of women living with breast cancer were identified. They are as follows: (1) needs (the need for spouse and family support, the need to worship, and the need to receive and share information), (2) living with losses (loss of the breast and of one’s hair), and (3) changes (changes in one’s normal life, change in self-perception, changes in the perception of the value of health, and a greater appreciation for life).ConclusionsThis study was conducted to increase awareness concerning women’s perceptions of their care and various needs during breast cancer treatment. The results of this study challenge health care providers and educators to be more aware of the difficulties that women face when living with breast cancer.     

Serum copper and zinc concentrations in patients with chronic hepatitis C

The aim of this study was to measure the alterations in serum trace elements, including zinc and copper in patients with chronic hepatitis C and to compare them with the results of healthy individuals. Seventeen patients with chronic hepatitis C and 17 healthy individuals were included in this study. Serum zinc and cooper concentrations were measured by using atomic absorption spectrophotometer of patients with chronic hepatitis C and the results were statistically compared with those of healthy individuals. Serum zinc concentrations were 105.6+/-22.8 microg/dl in patients with chronic hepatitis C and 94.41+/-19 microg/dl in healthy controls, respectively. Serum copper concentrations were 103.17+/-20.8 microg/dl in patients with chronic hepatitis C and 90.8+/-14.3 microg/dl in healthy subjects, respectively. Serum zinc and copper concentrations were not found statistically different in patients with chronic hepatitis C compared with those of healthy individuals (p>0.05). In conclusion, serum trace element concentrations did not show statistical alterations in patients with chronic hepatitis C compared to healthy subjects.     

Clinical features and outcomes of 76 patients with COVID-19-related multi-system inflammatory syndrome in children

Clinical Rheumatology - Multi-system inflammatory syndrome in children (MIS-C) is a less understood and a rare complication of coronavirus disease-2019 (COVID-19). Given the scarce data regarding...     

Delirium in diabetic ketoacidosis: a case report

A 15-year-old female patient with known type 1 diabetes mellitus was referred because of abdominal pain. On admission, she was alert but dehydrated with marked Kussmaul breathing. Blood glucose was 414 mg/dL (23 mmol/L). Blood gas analysis revealed severe metabolic acidosis (pH: 6.99) with an elevated anion gap (29.8 mmol/L) and an increased base excess (-25.2 mmol/L). At the sixth hour of treatment with intravenous fluids and insulin, the patient became delirious. The delirium persisted despite the normalization of the acidosis and became difficult to manage. Brain imaging studies revealed neither brain edema nor other intracranial pathology. No evidence of intoxication could be found. The patient gradually regained consciousness and was diagnosed as a case of severe diabetic ketoacidosis (DKA) associated with infection. We were unable to find a similar case in the pediatric literature and thought that reporting this unusual case would be a contribution to the literature on DKA in children.     

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuropsychiatric disorders. Patients presenting with an incomplete phenotype of WS1 were evaluated using homozygosity mapping and subsequent whole-exome sequencing.Methods:Four unrelated consanguineous Turkish families, including seven affected children, and their unaffected parents and siblings were evaluated. Homozygosity mapping was performed, followed by whole-exome sequencing of WFS1. Mutations were classified according to results of “in silico” analyses, protein prediction, and functional consequences.Results:Homozygosity mapping confirmed shared homozygous regions on chromosome 4 (chr4p16.1) between the affected individuals, that was absent in their unaffected siblings. Exome sequencing identified three novel (c.1215T>A, c.554G>A, c.1525_1540dup) and one known (c.1522_1523delTA) mutations in WFS1. All mutations were predicted to cause stop codon leading to early termination of protein synthesis and complete loss-of-function. All patients were found to be homozygous for the change, with parents and other unaffected siblings being carriers.Conclusion:Our study expands the mutation spectrum of WSF1 mutations with three novel mutations. Homozygosity mapping may provide enrichment for molecular genetic analysis and early diagnosis of WS1 patients with incomplete phenotype, particularly in consanguineous pedigrees.     

Successful intrauterine treatment with alcohol ablation in a case of acardiac twin pregnancy.

Acardiac twinning is a rare obstetric condition unique to monochorionic twin gestation and the pump twin has high perinatal mortality. We report an acardiac twin pregnancy, in which the pump twin presented with intrauterine growth restriction and oligohydramnios, and grossly hydropic acardiac fetus measured 12 x 14 x 18 cm, and with no cardiac activity at 27 weeks of gestation. We treated the acardiac fetus with 1 ml alcohol ablation in utero, and delivered a live male baby weighing 1750 g at 36 weeks' gestation.