Peripheral Blood B and T Cell Profiles in Children with Active Juvenile Idiopathic Arthritis.

Juvenile idiopathic arthritis (JIA) is one of the most common autoimmune diseases in children. Our study aimed to evaluate the peripheral blood B and T lymphocyte subpopulations in children with JIA. This case-control study included 20 children with JIA as well as 20 healthy children with matching age and sex as a control group. All patients included in the study were in activity as determined by visual analog scale. In addition to complete clinical evaluation, basic investigations, peripheral blood B and T lymphocyte subpopulations were done to all participants by flow cytometry. JIA patients displayed a significant decrease in IgM memory B lymphocytes, switched memory B lymphocytes, and total memory B lymphocytes when compared to the healthy controls. The percentages of naïve B lymphocytes were significantly increased in JIA patients than in controls. Total T lymphocytes, CD8+CD28null cells, and CD4+CD28null cells were significantly increased in JIA patients as compared to controls. In conclusion; JIA patients have an alteration in both B and T lymphocytes with the predisposition of memory cells which may have a role in sustaining the JIA disease activity.

Using a family history questionnaire to identify adult patients with increased genetic risk for sarcoma.

BACKGROUND: Sarcomas in adults can be associated with hereditary cancer syndromes characterized by early-onset predisposition to numerous types of cancer. Because of variability in familial presentation and the largely unexplained genetic basis of sarcomas, ascertainment of patients for whom a genetics evaluation is most indicated poses challenges. We assessed the utility of a Sarcoma Clinic Genetic Screening (scgs) questionnaire in facilitating that task. METHODS: Between 2008 and 2012, 169 patients (median age: 53 years; range: 17-88 years) completed a self-administered scgs questionnaire. A retrospective chart review was completed for all respondents, and descriptive statistics were reported. Probands were divided into two groups depending on whether they did or did not report a family history of Li-Fraumeni syndrome-type cancers. RESULTS: A family history of cancer (as far as 3rd-degree relatives) was reported in 113 of 163 sarcoma patients (69%). Eeles Li-Fraumeni-like (lfl) criteria were fulfilled in 46 probands (28%), Chompret lfl in 21 (13%), Birch lfl in 8 (5%), and classic Li-Fraumeni in none. In the 10 probands tested for TP53 mutations, 1 pathogenic mutation was found. Further investigation of selected families led to the discovery of germline mutations in MLH1, MSH2, and APC genes in 3 individuals. CONCLUSIONS: The scgs questionnaire was useful for ascertaining probands with sarcoma who could benefit from a genetic assessment. The tool allowed us to identify high-risk families fitting the criteria for lfl and, surprisingly, other hereditary cancer syndromes. Similar questionnaires could be used in other cancer-specific clinics to increase awareness of the genetic component of these cancers.

Effect of enteric parasitic infection on serum trace elements and nutritional status in upper Egyptian children.

INTRODUCTION: Enteric parasitic infections still the cause of major health problems among Egyptian children as they have great morbid effect on their physical and cognitive development. Malnutrition makes children more prone to micronutrient deficiency and subsequently more vulnerable to parasitic infection. The present study aimed to identify the effect of intestinal parasitism on micronutrient serum level and children nutritional status. MATERIALS AND METHODS: A case control study was carried out on children from 1 to 6 years old who were attending the Assiut University Children Hospital outpatient clinic, after parasitological stool examination they were divided into Group 1 (G1, n: 60) positive with enteric parasite and Group 2 (G2, n: 60) age and sex matched and free of parasites. Anthropometric measurements were expressed as weight for age (WFA), height for age (HFA), and weight for height (WFH) parameters. Serum zinc (Zn) and copper (Cu) were determined by atomic absorption spectrophotometer. RESULTS: Intestinal parasitic infection rate was 55.7%; more commonly detected parasites were Giardia lamblia 28%, Cryptosporidium sp. 20%, and polyparasitism 18%. All children (G1 and G2) were underweight (WFA) while 63% of G1 were malnourished, either in the form of wasting (WFH) or stunting (HFA) or both aspects. Stunting and wasting were more dominant among children infected with G. lamblia and Cryptosporidium sp. and most of them were below 2 years old. CONCLUSIONS: Coincident decrease in serum Zn level and an increase of serum Cu was more prominent among G. lamblia and Cryptosporidium sp. patients. G. lamblia and Cryptosporidium sp. were found to be more associated with nonstandard children nutritional status beside to an altered micronutrient level.

Clinical characteristics and outcome of children stung by scorpion.

UNLABELLED: Scorpion envenomation is a health problem in children in tropical and subtropical regions. The aim of this study was to evaluate demographic and clinical characteristics as well as outcomes in referred children to Assiut University Children Hospital during the year 2012 with a history of scorpion sting. The medical files of these patients were reviewed retrospectively for demographic data, time and site of biting, and clinical manifestations. Laboratory investigations of the patients were reviewed for complete blood count (CBC), liver function tests, creatinine phosphokinase (CPK), lactate dehydrogenase (LDH), arterial blood gases, and serum electrolytes. Results showed 111 children with a history of scorpion sting; 69 males and 42 females with a median age of 5 years. Out of the studied patients, 53.2 % were classified as class III of clinical severity with recorded pulmonary edema in 33.3 %, cardiogenic shock in 46.8 %, and severe neurological manifestations in 22.8 %. Twelve patients (10.8 %) were classified as class II with mild systemic manifestations, and 36 % of the patients were classified as class I with only local reaction. Outcomes of these patients were discharge without sequelae in 55.8 %, discharge with sequelae in 26.1 %, and death in 18.1 %. CONCLUSION: more than half of stung children had a severe clinical presentation and about one fifth died. Aggressive treatment regimens are recommended for such patients to improve the outcome.

Clinical and neuropsychiatric status in children with Williams-Beuren Syndrome in Upper Egypt.

UNLABELLED: The aim of this study was to evaluate and explore the clinical, neuropsychiatric status and EEG pattern in a series of children with Williams-Beuren syndrome (WBS) in Assiut, Upper Egypt. We aimed to provide a comprehensive data comparable to what has been published, to enable us to make comparisons across different cultural areas. This will contribute to a better definition of the neuropsychiatric features that may be specific to WBS that allows early and better detection and management of those children. MATERIALS AND METHODS: A series of 17 WBS children patients who consulted at our hospital were evaluated. The patients were assessed mainly for clinical, neurological, psychiatric and EEG status. We performed FISH for all patients. RESULTS: All patients had a deletion of the long arm of chromosome 7 (7q 11.23). All had elfin facies. Neurological examination revealed hypotonia in 25% of patients and rigidity (12.50%), brisk deep tendon reflexes (25%), abnormal plantar response (12.50%). Cerebellar and extrapyramidal signs were frequent: dysmetria (31.25%), dysdiadochokinesia (31.25%) and ataxia (18.75%). Epileptic seizures were present in 31.25% of patients and ADHD (37.5%). Autism was present in one patient. EEG abnormalities were present in 31.25%. Congenital cardiopathies were present in 62.50%. CONCLUSION: Our data showed that WBS children had multi-systemic clinical complications and the management of those patients requires the pediatrician to understand the natural course of this condition, awareness of potential medical problems, and periodic baseline clinical, neuropsychiatric evaluations, monitoring, and rapid intervention to improve the medical care for patients who have WBS.