Cancer in Sotos syndrome: Report of a patient with acute myelocytic leukemia and review of the literature

Sotos syndrome is a rare congenital disorder that is associated with various malignancies, including acute lymphoblastic leukemia and lymphomas. The NSD1 gene haploinsufficiency is associated with this syndrome. The authors report a case of acute myeloid leukemia developing in a child with Sotos syndrome. He was treated with standard chemotherapy and achieved sustained remission. On review of the literature, it was found that most malignancies in Sotos syndrome occur in childhood. In conclusion, because of their increased risk of developing malignancy, patients with Sotos syndrome should be followed closely for signs and symptoms of both hematologic and nonhematologic malignancies, at least during childhood

Idiopathic thrombocytopenic purpura in childhood: a population-based study in Qatar

Objective: To find the pattern of idiopathic thrombocytopenic purpura (ITP) (acute/chronic) and to describe presenting features and clinical characteristics of the disease in children below 14 years of age in a newly developed Arabian society

Púrpura trombocitopênica idiopática na infância: estudo de base populacional no Catar Idiopathic thrombocytopenic purpura in childhood: a population-based study in Qatar

OBJETIVO: Definir o padrão da púrpura trombocitopênica idiopática (PTI) (aguda/crônica), e descrever seus sintomas e características clínicas em crianças com menos de 14 anos de idade em uma sociedade árabe recentemente desenvolvida. MÉTODOS: Este estudo descritivo retrospectivo foi realizado no Departamento de Pediatria do Hospital Geral de Hamad, Hamad Medical Corporation, Catar. Foram incluídas neste estudo 50 crianças com idade inferior a 14 anos e diagnóstico de PTI durante o período de 2000 a 2005. RESULTADOS: Das crianças estudadas (50), 62% foram diagnosticadas com PTI aguda e 38% com PTI crônica. A PTI aguda foi mais prevalente em meninos (64,5%) em comparação com meninas (35,5%), enquanto que a PTI crônica apresentou uma distribuição quase igual em meninos (57,9%) e meninas (42,1%). História de infecção viral foi comum em casos de PTI tanto aguda (71%) quanto crônica (63,2%); 68% das crianças com PTI apresentaram contagem de plaquetas abaixo de 20x10(9)/L ao diagnóstico. A maioria das crianças estudadas (74%) foi tratada com imunoglobulina intravenosa. CONCLUSÕES: O estudo revelou uma alta incidência de PTI entre as crianças no Catar. As descobertas do estudo são semelhantes às de outros relatos internacionais.<br>OBJECTIVE: To find the pattern of idiopathic thrombocytopenic purpura (ITP) (acute/chronic) and to describe presenting features and clinical characteristics of the disease in children below 14 years of age in a newly developed Arabian society. METHODS: This retrospective, descriptive study was carried out at the Pediatric Department of the Hamad General Hospital, Hamad Medical Corporation, Qatar. A total of 50 children below 14 years of age who were diagnosed with ITP during the period 2000-2005 were included. RESULTS: Among the studied children (50), 62% were diagnosed with acute ITP and 38% with chronic ITP. Acute ITP was more prevalent in boys (64.5%) when compared with girls (35.5%), whereas for chronic ITP, nearly an equal distribution was found in boys (57.9%) and girls (42.1%). Preceding viral infection was common in both acute (71%) and chronic (63.2%) ITP cases; 68% of the children with ITP showed a platelet count below 20x10(9)/L at the time of presentation. Most of the studied children were treated with intravenous immunoglobulin (74%). CONCLUSIONS: The study revealed a high incidence of ITP among children in Qatar. The study findings are in line with other international reports

Management of Glanzmann's Thrombasthenia – Guidelines based on an expert panel consensus from gulf cooperation council countries

Glanzmann thrombasthenia is a rare disorder, due to quantitative and/or qualitative abnormalities of the platelet integrin αIIbβ3 and/or αIIbβ3. Although it is considered a rare disorder with a global incidence of 1/1,000,000 population, the case is different at the Gulf Cooperation Council countries, where prevalence rate as high as 1/40,000 in Madinah, Saudi Arabia. This makes it necessary to develop patient's management guidelines. Due to limited resources in the literature, experts' consensus was important to develop such guidelines. Experts panel elected to use recombinant activated factor VII (rFVIIa) as the first line of treatment of acute bleeds and reserve platelets transfusion for nonresponding patients or severe bleeds, rFVIIa at high dose (270 μg/kg body weight) may tried upfront. rFVIIa may be tried as prophylactic treatment in patients with frequents bleeds. Experts panel elected to allow girls with Glanzmann thrombasthenia to have menstruation and to adapt a special protocol for this purpose (Madinah protocol). Pregnancy should be managed carefully, where normal delivery encouraged under coverage of rFVIIa. Risk of bleeding should be expected in neonates. Minor surgeries and dental workup can be managed under coverage of rFVIIa. Glanzmann thrombasthenia patients with severe disease should be encouraged for hematopoietic stem cell transplant

Pregnant women's perceptions of physical activity: Adaptation of the pregnancy physical activity questionnaire in Dubai, a multicultural society.

BACKGROUND: There are major health benefits of physical activity (PA) during pregnancy, yet there is scant data about a woman's knowledge and understanding of these benefits globally. DESIGN AND METHODS: We aimed to evaluate the knowledge, attitude, and practice of pregnant women in the United Arab Emirates concerning exercise.   We wanted to investigate why some women exercise while others do not exercise during pregnancy. We used a cross-sectional study using a paper-based questionnaire involving pregnant women at antenatal clinics in the Dubai health Authority. The Modified form of Pregnancy Physical Activity Questionnaire (PPAQ) was adapted in both Arabic and English and used in this study. RESULTS:  Women aging 25-35 that had a higher educational level, were employed, having 1 or 2 previous pregnancies, and having better knowledge on the benefits of Physical Activity (PA) during pregnancy had better exercise profiles. CONCLUSIONS: Our results demonstrate that the majority of the women that participated in our study were shown to have low PA during pregnancy. Better education and communication of the benefits of PA during pregnancy are needed to improve exercise among pregnant women in the UAE population. We found that improved education of women specific to PA with involvement of a healthcare provider were associated with an increase in PA during pregnancy

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

BackgroundWe previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants of life-threatening COVID-19 remain to be identified in similar to 80% of cases.MethodsWe report here a genome-wide rare variant burden association analysis in 3269 unvaccinated patients with life-threatening COVID-19, and 1373 unvaccinated SARS-CoV-2-infected individuals without pneumonia. Among the 928 patients tested for autoantibodies against type I IFN, a quarter (234) were positive and were excluded.ResultsNo gene reached genome-wide significance. Under a recessive model, the most significant gene with at-risk variants was TLR7, with an OR of 27.68 (95%CI 1.5-528.7, P=1.1x10(-4)) for biochemically loss-of-function (bLOF) variants. We replicated the enrichment in rare predicted LOF (pLOF) variants at 13 influenza susceptibility loci involved in TLR3-dependent type I IFN immunity (OR=3.70[95%CI 1.3-8.2], P=2.1x10(-4)). This enrichment was further strengthened by (1) adding the recently reported TYK2 and TLR7 COVID-19 loci, particularly under a recessive model (OR=19.65[95%CI 2.1-2635.4], P=3.4x10(-3)), and (2) considering as pLOF branchpoint variants with potentially strong impacts on splicing among the 15 loci (OR=4.40[9%CI 2.3-8.4], P=7.7x10(-8)). Finally, the patients with pLOF/bLOF variants at these 15 loci were significantly younger (mean age [SD]=43.3 [20.3] years) than the other patients (56.0 [17.3] years; P=1.68x10(-5)).ConclusionsRare variants of TLR3- and TLR7-dependent type I IFN immunity genes can underlie life-threatening COVID-19, particularly with recessive inheritance, in patients under 60 years old