Leukemia is the commonest neoplastic disease of infancy and childhood, accounting for 30-45% of a... more Leukemia is the commonest neoplastic disease of infancy and childhood, accounting for 30-45% of all childhood concerns worldwide. Malnutrition in pediatric oncology population has been reported to occur in 32% of patients in USA and in 50 % of patients in Netherlands. Unlike adults, childrens` nutritional needs must include energy requirement for growth and development. In addition, those needs are required to support the child during the disease and its treatment. Pediatric nurses are part of the nutrition team in all pediatric units. They have an important role in identifying whether children are at risk or actually have malnutrition. Objective: To assess the nutritional status of adolescents with leukemia and determine the impact of application of dietary pattern on nutritional status of adolescents with leukemia undergoing chemotherapy. Setting: The study was conducted in the University Childrens` Hospital and Sporting Students` Hospital in Alexandria. Subjects: A convenient sample of 60 adolescents with leukemia was included in the study. Tools: Data was collected by using three tools. Adolescents and their care givers were interviewed to collect socio-demographic data and medical history of the disease. The subjects were undergone a comprehensive nutritional assessment and application of dietary pattern. Data was collected during a period of 8 months. Results: The results showed that application of dietary pattern during chemotherapy was significantly effective in improving the adolescents` nutritional style, adolescents` knowledge about their proper nutrition during chemotherapy, the chemotherapy side effects and their management. It also showed improvement in the leukemic adolescents` anthropometric measurements and laboratory investigations. Conclusion: Application of a dietary pattern during chemotherapy was significantly effective in improving the adolescents' nutritional style, their knowledge about their proper nutrition, and their treatment. Recommendations: Emphasizing the importance of nutritional assessment and management process in the medical settings are mandatory. Educating and training the nursing staff to be familiar with how and when to apply such process and improving the food service in medical setting are highly recommended.
Journal of Thrombosis and Haemostasis, Feb 1, 2023
High-molecular-weight kininogen (HMWK) deficiency is a very rare hereditary disorder caused by a ... more High-molecular-weight kininogen (HMWK) deficiency is a very rare hereditary disorder caused by a defect of Kininogen-1 gene (KGN1). A 67-year-old asymptomatic male with an isolated prolonged activated partial thromboplastin time (aPTT) was recognized to have HMWK deficiency. The propositus had less than 1% HMWK procoagulant activity. The plasma HMWK procoagulant activities of his 2 younger sisters were 1.1% and less than 1%, respectively. Prekallikrein (PK) activity was also reduced in the propositus and two of his younger sisters with severe HMWK deficiency. Genetic testing to identify the KGN1 mutation provides a precise diagnosis for the patient and other family members. This Chinese family has a novel KGN1 nonsense variant, C to T, at nucleotide position 1456 leading to a stop codon in position 486 (p. Gln486*). Keywords High-molecular-weight kininogen • Deficiency • Kininogen-1 gene Abbreviations HMWK High-molecular-weight kininogen KGN1 Kininogen-1 gene aPTT Activated partial thromboplastin time PK Prekallikrein PT Prothrombin time TT Thrombin time LMWK Low molecular weight kininogen Highlights • A large Chinese family with severe High-molecularweight Kininogen deficiency was identified. • Gene analysis revealed a novel nonsense variant (c.1456C > T) of KNG1 gene.
Cardiovascular complications account for about one third of the premature mortality rate in patie... more Cardiovascular complications account for about one third of the premature mortality rate in patients with sickle cell disease (SCD). Underlying this cardiac risk is a progressive cardiomyopathy which is multifactorial. Recently myocardial fibrosis is assumed to be a novel mechanism for cardiac dysfunction. This study aimed to detect cardiac fibrosis and subclinical cardiac changes in sickle cell children by; cardiac magnetic resonance imaging (CMR), Tissue Doppler Echocardiography (TDE) and Galectin-3. Children with SCD were subjected to assessment of cardiac function by TDE and had estimated serum level of Gal-3. Cardiac MRI was used to assess volumes and function by cine sequence, LGE for detection of focal myocardial fibrosis, native T1 mapping and extracellular volume (ECV) for quantification of diffuse myocardial fibrosis as well as CMR T2* for myocardial iron load. Thirty-four childrenwith SCD (mean age 13.32 ± 3.24 years) were enrolled in our study, another thirty-four healthy children served as controls. Although myocardial iron load by T2* was normal, ECV was increased among all cases with mean level 35.41 ± 5.02 %. The mean of ECV was significantly associated with the frequency of VOCs (P= 0.017) and negatively correlated to hemoglobin level (P=0.005). In consistent with ECV, Galectin-3 level was significantly higher among cases when compared to controls (7.75 ± 1.86 ng/ml versus 6.04 ±1.64 ng/ml, p<0.001) with cutoff value over the ROC curve 6.5ng/ml, sensitivity; 82.5 %, specificity; 72.8%. ECV were significantly higher for cases with Tie index > 0.4 by TDI subgroup when compared to ECV of subgroup with Tie index < 0.4 (38.17 ± 4.25 versus 34.43 ± 5.02, P: 0.03*). In conclusion: ECV is a validated CMR parameter to detect and quantify diffuse interstitial myocardial fibrosis in asymptomatic children with SCD. Cardiac fibrosis in SCD children is associated with frequent attacks of ischemic re-perfusion injury and correlated to the severity of anemia rather than myocardial iron load. Tie index by TDE and serum Gal-3 are recommended screening tools.
arvovirus B19 (HPV B19) is a small nonenveloped single stranded DNA virus. It is highly infectiou... more arvovirus B19 (HPV B19) is a small nonenveloped single stranded DNA virus. It is highly infectious and spreads mainly through respiratory droplets. 1 Between 30-67% of patients with sickle cell disease (SCD) get infected causing transient red cell aplasia (TRCA), otherwise called aplastic crisis. 2 Moreover, HPV B19 is implicated as an etiological factor for complications escorting TRCA in patients with SCD. These complications include acute chest syndrome (ACS), hepatic sequestration, stroke, acute painful crisis, nephrotic syndrome, and acute splenic sequestration crisis (ASSC). 2 Concomitant TRCA and ASSC usually manifest in profound anemia necessitating hospital admission and blood transfusion. 3-5
Background and aim of the work: Cardiac complications occur in patients with non-transfusion depe... more Background and aim of the work: Cardiac complications occur in patients with non-transfusion dependent thalassemia (NTDT). The study aimed to evaluate transfusion effect on systolic and diastolic cardiac function in young NTDT patients. Methods: Study design: Cohort study. Seventeen regularly-transfused patients with NTDT (12.5±5.3 years; group 1) and 15 none/minimally transfused patients (13.2±4.8 years; group 2) were followed up for 5 years and compared as regards their clinical parameters, echocardiographic and Tissue-Doppler-Imaging. Results: Group 2 patients had significantly higher peak late-diastolic velocity of the left-ventricular-inflow Doppler (Am). Mitral-valve A-wave duration/pulmonary-veins, A-wave duration-ratio and pulmonary-vein S/D velocities-ratio were larger in group 2 as well (p = < 0.01). The diameters of right and left outflow-tract were larger with a higher cardiac-index in patients of group 2. Systolic-function was similar in the 2 studied groups. Conclusion: Diastolic function assessment revealed indicators of an abnormal relaxation of left-ventricle in non-transfused patients, which suggests a diastolic dysfunction. An increase in the diameter of the outflow-tract is likely attributed to high cardiac-output status in non-transfused NTDT patients as they have a higher cardiac index. Early start of regular transfusion for NTDT patients might prevent serious long-term cardiac complications.
Escherichia coli is an extremely unusual cause of monomicrobial necrotizing fasciitis of the extr... more Escherichia coli is an extremely unusual cause of monomicrobial necrotizing fasciitis of the extremities in children. We report a transfusion-dependent adolescent boy with iron-overload secondary to congenital dyserythropoietic anemia who developed severe E. coli monomicrobial necrotizing fasciitis of the leg following a minor trauma. Combined surgical, antimicrobial and supportive care resulted in a good outcome.
Objectives: Distinguishing between acute presentations of osteomyelitis (OM) and vaso-occlusive c... more Objectives: Distinguishing between acute presentations of osteomyelitis (OM) and vaso-occlusive crisis (VOC) bone infarction in children with sickle cell disease (SCD) remains challenging for clinicians, particularly in culture-negative cases. VOC and osteomyelitis have a very similar presentation in the acute stage, and both are associated with a rise in C-reactive protein (CRP) level and erythrocyte sedimentation rate (ESR). The gold standard to diagnose osteomyelitis is obtaining a positive blood culture and bone/joint biopsy which is invasive and not frequently done. Standard magnetic resonance imaging (MRI) with fat suppression sequencing (subtraction technique) may help to confirm osteomyelitis in SCD patients; however, this is frequently not done in a timely manner and is associated with false positive and false negative results. The objective of this study is to assess the discriminative impact of baseline variable and build a score to assess the diagnosis of osteomyelitis i...
Autosomal recessive complete interferon- gamma receptor-2 (IFN-γR2) deficiency is a rare potentia... more Autosomal recessive complete interferon- gamma receptor-2 (IFN-γR2) deficiency is a rare potentially fatal primary immune deficiency that predisposes to disseminated mycobacterial disease.Hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment. Few patients had been reported so far. OBJECTIVE To report on the outcome of hematopoietic stem cell transplantation (HSCT) in patients with IFNγR2 deficiency transplanted in Sultan Qaboos University Hospital (SQUH), Oman. STUDY DESIGN A retrospective report that included seven patients with IFNγR2 deficiency from three Omani families. All patients were homozygous for the same mutation (c.-175_+102del) INFGR2. Four patients underwent HLA- matched related donor (MRD) HSCT (3 siblings and 1 parent), while the other 3 received T- cell depleted (TCD) haploidentical HSCT from family donors. The stem cell source was peripheral blood stem cells in five patients and bone marrow in two. Five patients received myeloablative (MAC), and two had reduced intensity conditioning (RIC). RESULTS The overall survival rate was 85.7%; while event-free survival was 71.4%. One out of seven patients died on Day+31 with Gram-negative sepsis, while the other six patients were cured from their original disease (median follow up of 78.5 months). One patient had primary graft failure following a TCD-haploidentical transplant and was successfully re-transplanted from another haploidentical relative. Three patients received Donor lymphocyte infusion (DLI) for mixed chimerism. CONCLUSION HSCT is curative for complete IFN-γR2 deficiency. In the current cohort from Oman, 85.7% of our patients have been cured with either a MRD or a TCD haploidentical transplant. Genetic analysis at birth in children of high risk couples permits early diagnosis, prevents the morbidity of BCG vaccination and can enable safer and more successful transplant outcomes.
Fcγ receptors (FcγRs) is an important family of receptors involved in the recognition of IgG- coa... more Fcγ receptors (FcγRs) is an important family of receptors involved in the recognition of IgG- coated particles and complexes. Engagement of activating FcγRs initiates phagocytosis, antibody- dependent cellular cytotoxicity, and the release of inflammatory mediators. Many systemic autoimmune diseases are under FcγR control. Immune thrombocytopenic purpura (ITP) is the most common cause of thrombocytopenia in children. Multiple pathophysiologic mechanisms contribute to thrombocytopenia in ITP, including phagocytosis and destruction of autoantibody-coated platelets. Aim To study the impact of FcγRIIIa polymorphism on development of ITP in Egyptian children, and its impact on bleeding severity, response to treatment and disease chronicity. Subjects and methods: This is a case-control study including 40 patients with ITP (25 newly diagnosed, 15 chronic ITP) and 20 normal controls. Medical history and physical examination were performed. Laboratory investigations included CBC, Coombs test...
Background: Severe high molecular weight kininogen (HK) deficiency is an autosomal recessive defe... more Background: Severe high molecular weight kininogen (HK) deficiency is an autosomal recessive defect of the contact system caused by mutations in KNG1. Limited scientific interest in HK deficiency due to the rarity of the seemingly asymptomatic condition may increase, as HK, the precursor of bradykinin, is now discussed as a therapeutic target e.g. in hereditary angioedema. Aims: We provide a comprehensive analysis of the diagnostic, clinical, and genetic features of HK deficiency and estimate its frequency. Methods: We identified a new case of HK deficiency, systematically review the literature, conduct new genetic studies of reported cases, and comprehensively analyze the clinical course and diagnostic criteria. Clotting activity of HK and prekallikrein (PK) (HK:C/PK:C) and antigen (HK:Ag/PK:Ag) were determined and genetic analyses of KNG1 and KLKB1 were performed by Sanger sequencing. Characteristics deduced from the known HK deficiency-causing variants were used to estimate the f...
Background: In spite of guidelines recommending the no need for coagulation profile prior to ENT ... more Background: In spite of guidelines recommending the no need for coagulation profile prior to ENT surgeries when challenging history of bleeding is negative, yet surgeons still practice it. Cost and delaying surgeries are major issues faced when insignificant abnormalities are found in the coagulation profile results. In 2008, British Committee for Standards of Hematology has published guidelines (1) on assessing the bleeding risk prior to surgeries or invasive procedures, which stated that the indication for sending a coagulation profile is best based on the bleeding history of the patient. Aim: This study aimed to measure unbiased estimate of hemostatic outcomes in ENT surgeries in relation to coagulation testing. Methods: All patients who underwent ENT surgeries from three tertiary hospitals during the period from 1st July 2016 to 1st January 2017 were enrolled in the study. The retrieved data included gender, age, type of surgery, results of coagulation blood test (if done), othe...
Introduction: The optimum mode of delivery in a known carrier of a haemophilia A is still an issu... more Introduction: The optimum mode of delivery in a known carrier of a haemophilia A is still an issue of debate. Aim: This study was conducted to report a multicentre experience in Gulf Cooperation Council (GCC) on the incidence of intracranial haemorrhage (ICH) in newborns with severe haemophilia A delivered by different modalities. Methods: We have conducted a retrospective/prospective multicentre cohort study including a total of seven hospitals distributed in four GCC countries between 1998 and Jan 2015. A total of 163 patient with severe haemophilia A (factor VIII <1%) were enrolled in this study, age ranged between 2 weeks to 18 years. Results: Most of the patients were born by spontaneous vaginal delivery (SVD) (131, 80.4%), whereas 26 patients (16%) were born by CS and only six patients were born by instrumental delivery (3.7%), five of them by vacuum and one was delivered using forceps. Five out of 163 patients developed ICH during the first 2 weeks of life (3.1%). Two of them were born by SVD (2/131; 1.5%) and two were born by instrumental delivery (2/6; 33.3%). Only one patient among those who were born by caesarean section developed ICH (1/26; 3.8%). Assisted vaginal delivery was associated with a significant risk of ICH, in comparison to SVD and CS (P = 0.0093). Conclusion: Normal vaginal delivery is still considered a safe journey through the birth canal for haemophilic newborns particularly in this area of the world. Larger prospective studies might be needed to define an evidence-based optimal mode of delivery for the haemophilia carrier expecting an affected child.
A resurgence of pertussis or whooping cough has been observed worldwide despite broad vaccination... more A resurgence of pertussis or whooping cough has been observed worldwide despite broad vaccination coverage. Pertussis like illness (PLI) refers to a clinical syndrome compatible with pertussis infection but lacking laboratory confirmation or an epidemiological link to a confirmed case. Our study aimed to estimate the contribution of Bordetella pertussis infection and identifying predictors of its diagnosis in a cohort of children with PLI. Demographic and clinical information were retrospectively collected from the medical records of children < 13 years old and hospitalized for PLI in two pediatric units in Oman from 1 January 2012 to 31 December 2013. The laboratory data of all cases were reviewed and confirmed cases of pertussis were identified, analyzed, and compared with non-confirmed cases. A total of 131 patients were enrolled in this study. The majority (95.4% [125/131]) were infants. Only 54.1% (71/131) of admitted children with PLI were tested for pertussis. The incidenc...
BACKGROUND: Pediatric patients with sepsis in intensive care units are at high risk of developing... more BACKGROUND: Pediatric patients with sepsis in intensive care units are at high risk of developing anemia, which might have adverse effects on their prognosis. This study aimed to evaluate the impact of red blood cell (RBC) transfusion on the outcomes of patients admitted to a pediatric intensive care unit (PICU) with sepsis. METHODS: We conducted a prospective randomized clinical trial, enrolling 67 children, aged 2 to 144 months who were admitted to a PICU with a new episode of sepsis from November 2017 to April 2018. Patients were allocated randomly to two groups: Group 1, liberal transfusion strategy group, including 33 patients who had initial hemoglobin (Hb) between 7 or greater and less than 10 g/dL and received an RBC top-up transfusion to 12 g/dL; and Group 2, restrictive strategy group, including 34 patients who had the same Hb range and did not receive RBCs. Patients with Hb less than 7 or greater than 10 g/dL were excluded. RESULTS: Of 33 patients who received liberal transfusions, 31 (93.94%) required ventilation, and 29 (87.88%) had multiorgan dysfunction. They had a significantly lengthier hospital stay and a higher incidence of acute respiratory distress syndrome and acute lung injury. Moreover, mortality was significantly higher in the liberal transfusion group (42.4% vs. 17.6%). CONCLUSIONS: Compared to the restrictive transfusion strategy, liberal transfusion might be associated with a worse outcome. However, the possible role of other known and unknown confounding factors and minor protocol violations should be taken into consideration. We recommend minimizing factors worsening anemia in PICU patients to reduce the need for transfusion.
Background: Despite guidelines recommending no-need for coagulation testing prior to surgeries wh... more Background: Despite guidelines recommending no-need for coagulation testing prior to surgeries when challenging history of bleeding is negative, yet surgeons still overuse it in this part of the world. We aim to measure unbiased estimate of hemostatic outcomes in ENT surgeries and assess the surgeons’ behavior of pre-operative coagulation testing. Methods: All patients who underwent ENT surgeries during the period from July 2017 to January 2018 were enrolled. The primary outcome was post-operative bleeding. Surgeons were asked about their decision on history alone or doing coagulation testing and their reason. 2 Results: 730 patients were recruited; 372 were interviewed for a challenging bleeding history alone; group1 and 358 had pre-operative coagulation testing; group2. Coagulation testing was repeated twice or more in 55% of patients and more than half of them had coagulation factor and VWF assays. Most surgeons were doing the coagulation testing because of habitual practice. Con...
Leukemia is the commonest neoplastic disease of infancy and childhood, accounting for 30-45% of a... more Leukemia is the commonest neoplastic disease of infancy and childhood, accounting for 30-45% of all childhood concerns worldwide. Malnutrition in pediatric oncology population has been reported to occur in 32% of patients in USA and in 50 % of patients in Netherlands. Unlike adults, childrens` nutritional needs must include energy requirement for growth and development. In addition, those needs are required to support the child during the disease and its treatment. Pediatric nurses are part of the nutrition team in all pediatric units. They have an important role in identifying whether children are at risk or actually have malnutrition. Objective: To assess the nutritional status of adolescents with leukemia and determine the impact of application of dietary pattern on nutritional status of adolescents with leukemia undergoing chemotherapy. Setting: The study was conducted in the University Childrens` Hospital and Sporting Students` Hospital in Alexandria. Subjects: A convenient sample of 60 adolescents with leukemia was included in the study. Tools: Data was collected by using three tools. Adolescents and their care givers were interviewed to collect socio-demographic data and medical history of the disease. The subjects were undergone a comprehensive nutritional assessment and application of dietary pattern. Data was collected during a period of 8 months. Results: The results showed that application of dietary pattern during chemotherapy was significantly effective in improving the adolescents` nutritional style, adolescents` knowledge about their proper nutrition during chemotherapy, the chemotherapy side effects and their management. It also showed improvement in the leukemic adolescents` anthropometric measurements and laboratory investigations. Conclusion: Application of a dietary pattern during chemotherapy was significantly effective in improving the adolescents' nutritional style, their knowledge about their proper nutrition, and their treatment. Recommendations: Emphasizing the importance of nutritional assessment and management process in the medical settings are mandatory. Educating and training the nursing staff to be familiar with how and when to apply such process and improving the food service in medical setting are highly recommended.
Journal of Thrombosis and Haemostasis, Feb 1, 2023
High-molecular-weight kininogen (HMWK) deficiency is a very rare hereditary disorder caused by a ... more High-molecular-weight kininogen (HMWK) deficiency is a very rare hereditary disorder caused by a defect of Kininogen-1 gene (KGN1). A 67-year-old asymptomatic male with an isolated prolonged activated partial thromboplastin time (aPTT) was recognized to have HMWK deficiency. The propositus had less than 1% HMWK procoagulant activity. The plasma HMWK procoagulant activities of his 2 younger sisters were 1.1% and less than 1%, respectively. Prekallikrein (PK) activity was also reduced in the propositus and two of his younger sisters with severe HMWK deficiency. Genetic testing to identify the KGN1 mutation provides a precise diagnosis for the patient and other family members. This Chinese family has a novel KGN1 nonsense variant, C to T, at nucleotide position 1456 leading to a stop codon in position 486 (p. Gln486*). Keywords High-molecular-weight kininogen • Deficiency • Kininogen-1 gene Abbreviations HMWK High-molecular-weight kininogen KGN1 Kininogen-1 gene aPTT Activated partial thromboplastin time PK Prekallikrein PT Prothrombin time TT Thrombin time LMWK Low molecular weight kininogen Highlights • A large Chinese family with severe High-molecularweight Kininogen deficiency was identified. • Gene analysis revealed a novel nonsense variant (c.1456C > T) of KNG1 gene.
Cardiovascular complications account for about one third of the premature mortality rate in patie... more Cardiovascular complications account for about one third of the premature mortality rate in patients with sickle cell disease (SCD). Underlying this cardiac risk is a progressive cardiomyopathy which is multifactorial. Recently myocardial fibrosis is assumed to be a novel mechanism for cardiac dysfunction. This study aimed to detect cardiac fibrosis and subclinical cardiac changes in sickle cell children by; cardiac magnetic resonance imaging (CMR), Tissue Doppler Echocardiography (TDE) and Galectin-3. Children with SCD were subjected to assessment of cardiac function by TDE and had estimated serum level of Gal-3. Cardiac MRI was used to assess volumes and function by cine sequence, LGE for detection of focal myocardial fibrosis, native T1 mapping and extracellular volume (ECV) for quantification of diffuse myocardial fibrosis as well as CMR T2* for myocardial iron load. Thirty-four childrenwith SCD (mean age 13.32 ± 3.24 years) were enrolled in our study, another thirty-four healthy children served as controls. Although myocardial iron load by T2* was normal, ECV was increased among all cases with mean level 35.41 ± 5.02 %. The mean of ECV was significantly associated with the frequency of VOCs (P= 0.017) and negatively correlated to hemoglobin level (P=0.005). In consistent with ECV, Galectin-3 level was significantly higher among cases when compared to controls (7.75 ± 1.86 ng/ml versus 6.04 ±1.64 ng/ml, p&lt;0.001) with cutoff value over the ROC curve 6.5ng/ml, sensitivity; 82.5 %, specificity; 72.8%. ECV were significantly higher for cases with Tie index &gt; 0.4 by TDI subgroup when compared to ECV of subgroup with Tie index &lt; 0.4 (38.17 ± 4.25 versus 34.43 ± 5.02, P: 0.03*). In conclusion: ECV is a validated CMR parameter to detect and quantify diffuse interstitial myocardial fibrosis in asymptomatic children with SCD. Cardiac fibrosis in SCD children is associated with frequent attacks of ischemic re-perfusion injury and correlated to the severity of anemia rather than myocardial iron load. Tie index by TDE and serum Gal-3 are recommended screening tools.
arvovirus B19 (HPV B19) is a small nonenveloped single stranded DNA virus. It is highly infectiou... more arvovirus B19 (HPV B19) is a small nonenveloped single stranded DNA virus. It is highly infectious and spreads mainly through respiratory droplets. 1 Between 30-67% of patients with sickle cell disease (SCD) get infected causing transient red cell aplasia (TRCA), otherwise called aplastic crisis. 2 Moreover, HPV B19 is implicated as an etiological factor for complications escorting TRCA in patients with SCD. These complications include acute chest syndrome (ACS), hepatic sequestration, stroke, acute painful crisis, nephrotic syndrome, and acute splenic sequestration crisis (ASSC). 2 Concomitant TRCA and ASSC usually manifest in profound anemia necessitating hospital admission and blood transfusion. 3-5
Background and aim of the work: Cardiac complications occur in patients with non-transfusion depe... more Background and aim of the work: Cardiac complications occur in patients with non-transfusion dependent thalassemia (NTDT). The study aimed to evaluate transfusion effect on systolic and diastolic cardiac function in young NTDT patients. Methods: Study design: Cohort study. Seventeen regularly-transfused patients with NTDT (12.5±5.3 years; group 1) and 15 none/minimally transfused patients (13.2±4.8 years; group 2) were followed up for 5 years and compared as regards their clinical parameters, echocardiographic and Tissue-Doppler-Imaging. Results: Group 2 patients had significantly higher peak late-diastolic velocity of the left-ventricular-inflow Doppler (Am). Mitral-valve A-wave duration/pulmonary-veins, A-wave duration-ratio and pulmonary-vein S/D velocities-ratio were larger in group 2 as well (p = < 0.01). The diameters of right and left outflow-tract were larger with a higher cardiac-index in patients of group 2. Systolic-function was similar in the 2 studied groups. Conclusion: Diastolic function assessment revealed indicators of an abnormal relaxation of left-ventricle in non-transfused patients, which suggests a diastolic dysfunction. An increase in the diameter of the outflow-tract is likely attributed to high cardiac-output status in non-transfused NTDT patients as they have a higher cardiac index. Early start of regular transfusion for NTDT patients might prevent serious long-term cardiac complications.
Escherichia coli is an extremely unusual cause of monomicrobial necrotizing fasciitis of the extr... more Escherichia coli is an extremely unusual cause of monomicrobial necrotizing fasciitis of the extremities in children. We report a transfusion-dependent adolescent boy with iron-overload secondary to congenital dyserythropoietic anemia who developed severe E. coli monomicrobial necrotizing fasciitis of the leg following a minor trauma. Combined surgical, antimicrobial and supportive care resulted in a good outcome.
Objectives: Distinguishing between acute presentations of osteomyelitis (OM) and vaso-occlusive c... more Objectives: Distinguishing between acute presentations of osteomyelitis (OM) and vaso-occlusive crisis (VOC) bone infarction in children with sickle cell disease (SCD) remains challenging for clinicians, particularly in culture-negative cases. VOC and osteomyelitis have a very similar presentation in the acute stage, and both are associated with a rise in C-reactive protein (CRP) level and erythrocyte sedimentation rate (ESR). The gold standard to diagnose osteomyelitis is obtaining a positive blood culture and bone/joint biopsy which is invasive and not frequently done. Standard magnetic resonance imaging (MRI) with fat suppression sequencing (subtraction technique) may help to confirm osteomyelitis in SCD patients; however, this is frequently not done in a timely manner and is associated with false positive and false negative results. The objective of this study is to assess the discriminative impact of baseline variable and build a score to assess the diagnosis of osteomyelitis i...
Autosomal recessive complete interferon- gamma receptor-2 (IFN-γR2) deficiency is a rare potentia... more Autosomal recessive complete interferon- gamma receptor-2 (IFN-γR2) deficiency is a rare potentially fatal primary immune deficiency that predisposes to disseminated mycobacterial disease.Hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment. Few patients had been reported so far. OBJECTIVE To report on the outcome of hematopoietic stem cell transplantation (HSCT) in patients with IFNγR2 deficiency transplanted in Sultan Qaboos University Hospital (SQUH), Oman. STUDY DESIGN A retrospective report that included seven patients with IFNγR2 deficiency from three Omani families. All patients were homozygous for the same mutation (c.-175_+102del) INFGR2. Four patients underwent HLA- matched related donor (MRD) HSCT (3 siblings and 1 parent), while the other 3 received T- cell depleted (TCD) haploidentical HSCT from family donors. The stem cell source was peripheral blood stem cells in five patients and bone marrow in two. Five patients received myeloablative (MAC), and two had reduced intensity conditioning (RIC). RESULTS The overall survival rate was 85.7%; while event-free survival was 71.4%. One out of seven patients died on Day+31 with Gram-negative sepsis, while the other six patients were cured from their original disease (median follow up of 78.5 months). One patient had primary graft failure following a TCD-haploidentical transplant and was successfully re-transplanted from another haploidentical relative. Three patients received Donor lymphocyte infusion (DLI) for mixed chimerism. CONCLUSION HSCT is curative for complete IFN-γR2 deficiency. In the current cohort from Oman, 85.7% of our patients have been cured with either a MRD or a TCD haploidentical transplant. Genetic analysis at birth in children of high risk couples permits early diagnosis, prevents the morbidity of BCG vaccination and can enable safer and more successful transplant outcomes.
Fcγ receptors (FcγRs) is an important family of receptors involved in the recognition of IgG- coa... more Fcγ receptors (FcγRs) is an important family of receptors involved in the recognition of IgG- coated particles and complexes. Engagement of activating FcγRs initiates phagocytosis, antibody- dependent cellular cytotoxicity, and the release of inflammatory mediators. Many systemic autoimmune diseases are under FcγR control. Immune thrombocytopenic purpura (ITP) is the most common cause of thrombocytopenia in children. Multiple pathophysiologic mechanisms contribute to thrombocytopenia in ITP, including phagocytosis and destruction of autoantibody-coated platelets. Aim To study the impact of FcγRIIIa polymorphism on development of ITP in Egyptian children, and its impact on bleeding severity, response to treatment and disease chronicity. Subjects and methods: This is a case-control study including 40 patients with ITP (25 newly diagnosed, 15 chronic ITP) and 20 normal controls. Medical history and physical examination were performed. Laboratory investigations included CBC, Coombs test...
Background: Severe high molecular weight kininogen (HK) deficiency is an autosomal recessive defe... more Background: Severe high molecular weight kininogen (HK) deficiency is an autosomal recessive defect of the contact system caused by mutations in KNG1. Limited scientific interest in HK deficiency due to the rarity of the seemingly asymptomatic condition may increase, as HK, the precursor of bradykinin, is now discussed as a therapeutic target e.g. in hereditary angioedema. Aims: We provide a comprehensive analysis of the diagnostic, clinical, and genetic features of HK deficiency and estimate its frequency. Methods: We identified a new case of HK deficiency, systematically review the literature, conduct new genetic studies of reported cases, and comprehensively analyze the clinical course and diagnostic criteria. Clotting activity of HK and prekallikrein (PK) (HK:C/PK:C) and antigen (HK:Ag/PK:Ag) were determined and genetic analyses of KNG1 and KLKB1 were performed by Sanger sequencing. Characteristics deduced from the known HK deficiency-causing variants were used to estimate the f...
Background: In spite of guidelines recommending the no need for coagulation profile prior to ENT ... more Background: In spite of guidelines recommending the no need for coagulation profile prior to ENT surgeries when challenging history of bleeding is negative, yet surgeons still practice it. Cost and delaying surgeries are major issues faced when insignificant abnormalities are found in the coagulation profile results. In 2008, British Committee for Standards of Hematology has published guidelines (1) on assessing the bleeding risk prior to surgeries or invasive procedures, which stated that the indication for sending a coagulation profile is best based on the bleeding history of the patient. Aim: This study aimed to measure unbiased estimate of hemostatic outcomes in ENT surgeries in relation to coagulation testing. Methods: All patients who underwent ENT surgeries from three tertiary hospitals during the period from 1st July 2016 to 1st January 2017 were enrolled in the study. The retrieved data included gender, age, type of surgery, results of coagulation blood test (if done), othe...
Introduction: The optimum mode of delivery in a known carrier of a haemophilia A is still an issu... more Introduction: The optimum mode of delivery in a known carrier of a haemophilia A is still an issue of debate. Aim: This study was conducted to report a multicentre experience in Gulf Cooperation Council (GCC) on the incidence of intracranial haemorrhage (ICH) in newborns with severe haemophilia A delivered by different modalities. Methods: We have conducted a retrospective/prospective multicentre cohort study including a total of seven hospitals distributed in four GCC countries between 1998 and Jan 2015. A total of 163 patient with severe haemophilia A (factor VIII <1%) were enrolled in this study, age ranged between 2 weeks to 18 years. Results: Most of the patients were born by spontaneous vaginal delivery (SVD) (131, 80.4%), whereas 26 patients (16%) were born by CS and only six patients were born by instrumental delivery (3.7%), five of them by vacuum and one was delivered using forceps. Five out of 163 patients developed ICH during the first 2 weeks of life (3.1%). Two of them were born by SVD (2/131; 1.5%) and two were born by instrumental delivery (2/6; 33.3%). Only one patient among those who were born by caesarean section developed ICH (1/26; 3.8%). Assisted vaginal delivery was associated with a significant risk of ICH, in comparison to SVD and CS (P = 0.0093). Conclusion: Normal vaginal delivery is still considered a safe journey through the birth canal for haemophilic newborns particularly in this area of the world. Larger prospective studies might be needed to define an evidence-based optimal mode of delivery for the haemophilia carrier expecting an affected child.
A resurgence of pertussis or whooping cough has been observed worldwide despite broad vaccination... more A resurgence of pertussis or whooping cough has been observed worldwide despite broad vaccination coverage. Pertussis like illness (PLI) refers to a clinical syndrome compatible with pertussis infection but lacking laboratory confirmation or an epidemiological link to a confirmed case. Our study aimed to estimate the contribution of Bordetella pertussis infection and identifying predictors of its diagnosis in a cohort of children with PLI. Demographic and clinical information were retrospectively collected from the medical records of children < 13 years old and hospitalized for PLI in two pediatric units in Oman from 1 January 2012 to 31 December 2013. The laboratory data of all cases were reviewed and confirmed cases of pertussis were identified, analyzed, and compared with non-confirmed cases. A total of 131 patients were enrolled in this study. The majority (95.4% [125/131]) were infants. Only 54.1% (71/131) of admitted children with PLI were tested for pertussis. The incidenc...
BACKGROUND: Pediatric patients with sepsis in intensive care units are at high risk of developing... more BACKGROUND: Pediatric patients with sepsis in intensive care units are at high risk of developing anemia, which might have adverse effects on their prognosis. This study aimed to evaluate the impact of red blood cell (RBC) transfusion on the outcomes of patients admitted to a pediatric intensive care unit (PICU) with sepsis. METHODS: We conducted a prospective randomized clinical trial, enrolling 67 children, aged 2 to 144 months who were admitted to a PICU with a new episode of sepsis from November 2017 to April 2018. Patients were allocated randomly to two groups: Group 1, liberal transfusion strategy group, including 33 patients who had initial hemoglobin (Hb) between 7 or greater and less than 10 g/dL and received an RBC top-up transfusion to 12 g/dL; and Group 2, restrictive strategy group, including 34 patients who had the same Hb range and did not receive RBCs. Patients with Hb less than 7 or greater than 10 g/dL were excluded. RESULTS: Of 33 patients who received liberal transfusions, 31 (93.94%) required ventilation, and 29 (87.88%) had multiorgan dysfunction. They had a significantly lengthier hospital stay and a higher incidence of acute respiratory distress syndrome and acute lung injury. Moreover, mortality was significantly higher in the liberal transfusion group (42.4% vs. 17.6%). CONCLUSIONS: Compared to the restrictive transfusion strategy, liberal transfusion might be associated with a worse outcome. However, the possible role of other known and unknown confounding factors and minor protocol violations should be taken into consideration. We recommend minimizing factors worsening anemia in PICU patients to reduce the need for transfusion.
Background: Despite guidelines recommending no-need for coagulation testing prior to surgeries wh... more Background: Despite guidelines recommending no-need for coagulation testing prior to surgeries when challenging history of bleeding is negative, yet surgeons still overuse it in this part of the world. We aim to measure unbiased estimate of hemostatic outcomes in ENT surgeries and assess the surgeons’ behavior of pre-operative coagulation testing. Methods: All patients who underwent ENT surgeries during the period from July 2017 to January 2018 were enrolled. The primary outcome was post-operative bleeding. Surgeons were asked about their decision on history alone or doing coagulation testing and their reason. 2 Results: 730 patients were recruited; 372 were interviewed for a challenging bleeding history alone; group1 and 358 had pre-operative coagulation testing; group2. Coagulation testing was repeated twice or more in 55% of patients and more than half of them had coagulation factor and VWF assays. Most surgeons were doing the coagulation testing because of habitual practice. Con...
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Papers by Hanan Fawzy