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  1. Article: The Management of Intraabdominal Testis: A Survey of the World Federation of Associations of Pediatric Surgeons (WOFAPS) Practices.

    Shehata, Sameh / Hadziselimovic, Faruk / Khater, Doaa / Kotb, Mostafa

    Frontiers in pediatrics

    2022  Volume 10, Page(s) 928069

    Abstract: Background and objective: The optimal treatment protocol of intraabdominal testis is still a matter of debate and until now there are a lot of areas of controversy as regards this challenging subtype. The aim of this report is to document current ... ...

    Abstract Background and objective: The optimal treatment protocol of intraabdominal testis is still a matter of debate and until now there are a lot of areas of controversy as regards this challenging subtype. The aim of this report is to document current practice patterns among surgeons from different continents through an online Redcap survey supervised the World Federation of the Association of Pediatric Surgeons (WOFAPS).
    Methods: A 16-question-survey related to the management of intraabdominal testis was created and administered
    Results: There were 436 WOFAPS members who participated in this study with a response rate of 29%, and the vast majority were pediatric surgeons. Only 13% tried to use hormone therapy aiming to induce testicular descent or to improve future fertility. The choices of various surgical techniques were noted. During laparoscopy, if vessels and cord structure were seen entering the ipsilateral internal inguinal ring, most respondents chose to explore the groin. On the other hand, should there was an absent or atrophic testis, the respondents were split on whether to perform a contralateral orchiopexy.
    Conclusion: This survey describes the current practices of a sample of pediatric surgeons and urologists in the management of intraabdominal testis. The use of hormonal treatment, timing of fixation and management in case of passing through vas and vessels through DIR were undisputable. However, management of low-lying and peeing testis together with the management of contralateral testis were still debatable.
    Language English
    Publishing date 2022-06-29
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2022.928069
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  2. Article ; Online: Autoimmune diseases in Turner syndrome: an overview.

    De Sanctis, Vincenzo / Khater, Doaa

    Acta bio-medica : Atenei Parmensis

    2019  Volume 90, Issue 3, Page(s) 341–344

    Abstract: Turner syndrome (TS) results from a sex-chromosomal anomaly characterized by presence of one normal X chromosome and the loss of the second X-chromosome in phenotypic females. Autoimmunity has been recognized as one of the more prominent characteristics ... ...

    Abstract Turner syndrome (TS) results from a sex-chromosomal anomaly characterized by presence of one normal X chromosome and the loss of the second X-chromosome in phenotypic females. Autoimmunity has been recognized as one of the more prominent characteristics of TS. The risk of autoimmune diseases in patients with TS is approximately twice as high as in the general female population. The spectrum includes, Hashimoto's thyroiditis, coeliac disease (CD), type 1 diabetes (T1DM), alopecia areata, inflammatory bowel disease, juvenile rheumatoid arthritis and some cutaneous disorders as vitiligo and Halo nevus. This review will address the autoimmune disorders associated with TS, their pathophysiologic mechanisms and clinical characteristics.
    MeSH term(s) Arthritis, Juvenile/etiology ; Autoimmune Diseases/epidemiology ; Autoimmune Diseases/etiology ; Celiac Disease/etiology ; Diabetes Mellitus, Type 1/etiology ; Female ; Hashimoto Disease/etiology ; Humans ; Prevalence ; Turner Syndrome/complications
    Language English
    Publishing date 2019-09-06
    Publishing country Italy
    Document type Journal Article ; Review
    ZDB-ID 2114240-3
    ISSN 2531-6745 ; 0392-4203
    ISSN (online) 2531-6745
    ISSN 0392-4203
    DOI 10.23750/abm.v90i3.8737
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  3. Article ; Online: The prevalence of sickling abnormality in Oman: A review of relevant publications

    Al-Mashaikhi, Nawal / Al-Rawas, Abdulhakim / Wali, Yasser / Soliman, Ashraf / Khater, Doaa

    Acta bio-medica : Atenei Parmensis

    2022  Volume 93, Issue 4, Page(s) e2022289

    Abstract: Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions.  The prevalence of sickle cell trait and disease reaches up to 4.8-6% and 0.2% respectively, which is the highest among the Arab ... ...

    Abstract Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions.  The prevalence of sickle cell trait and disease reaches up to 4.8-6% and 0.2% respectively, which is the highest among the Arab Gulf states.  Omani population represents a variability of HbS genotype combinations with other Hb genotypes modify the clinical severity of the disease. The most prevalent sickling abnormality in Oman is Hb S/S (SCA) followed by Hb S/β-thalassemia. Omani children with SCD with high Hb F level had less severe disease. More than two-thirds of SCD cases were running a mild course of the disease due to the high prevalence of  a-thalassemia trait. The severity index has been correlated with the early age of presentation, the absence of  a-thalassemia trait and the lower level of HbF as well as to the existence of different β-globin gene haplotypes.  S/ β0 presented with the same clinical severity of S/S while those with S/ β+ had some splenic function into adulthood and were more prone to splenic sequestration. The unique existence of HbS-Oman (a severe variant of sickle hemoglobinopathy) markedly increased the severity of the disease. Compound heterozygotes HbS-Oman resulted in very severe clinical manifestations with transfusion-dependency and hypersplenism early in life. This paper summarizes and reviews βs gene haplotypes in patients with sickle cell anemia (SCA) in Oman. (www.actabiomedica.it).
    MeSH term(s) Adult ; Anemia, Sickle Cell/epidemiology ; Anemia, Sickle Cell/genetics ; Child ; Haplotypes ; Humans ; Oman/epidemiology ; alpha-Thalassemia/genetics ; beta-Globins/genetics ; beta-Thalassemia/epidemiology ; beta-Thalassemia/genetics
    Chemical Substances beta-Globins
    Language English
    Publishing date 2022-08-31
    Publishing country Italy
    Document type Journal Article ; Review
    ZDB-ID 2114240-3
    ISSN 2531-6745 ; 0392-4203
    ISSN (online) 2531-6745
    ISSN 0392-4203
    DOI 10.23750/abm.v93i4.13336
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  4. Article ; Online: Hermansky-Pudlak Syndrome: Spectrum in Oman.

    Nazir, Hanan F / Al Sukaiti, Nashat / Khater, Doaa / Elbeshlawy, Ismail / Hassanein, Nehad

    Journal of pediatric hematology/oncology

    2022  Volume 45, Issue 3, Page(s) e389–e394

    Abstract: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, characterized by oculocutaneous albinism, a hemorrhagic diathesis secondary to storage pool-deficient platelets, and in some patients' pulmonary fibrosis, granulomatous colitis, and ... ...

    Abstract Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, characterized by oculocutaneous albinism, a hemorrhagic diathesis secondary to storage pool-deficient platelets, and in some patients' pulmonary fibrosis, granulomatous colitis, and immunodeficiency. To date, 11 different types of Hermansky-Pudlak syndrome were identified. HPS type 2 is distinctively characterized by severe neutropenia and recurrent sinopulmonary infections. HPS is more common in Puerto Rico, and this is the first report deciphering the genotypic spectrum of HPS in Oman. Between 2001 and 2021, 8 Omani cases with HPS (3 HPS type 2, 1 HPS type 3, and 4 HPS type 6) had been suspected clinically and confirmed through genetic mutation analysis. Patients had mild hemorrhagic phenotype, and variable platelet aggregation defects with different platelet agonists. All patients had characteristic eye manifestations. In addition, patients with HPS type 2 had severe neutropenia. Novel mutations in AP3B1(c.205-1G>C, c.12_13delTA (p.Asn4Lysfs*6) and HPS6 (c.19_20delCT (p. Leu7Alafs*168) were not reported in population variant databases. Diagnosis of HPS had markedly improved in Oman; however, increased clinician awareness is needed. A high index of suspicion and early referral for diagnosis and initiation of proper treatment might help improve outcomes.
    MeSH term(s) Humans ; Hermanski-Pudlak Syndrome/diagnosis ; Hermanski-Pudlak Syndrome/epidemiology ; Hermanski-Pudlak Syndrome/genetics ; Oman/epidemiology ; Blood Platelets ; Neutropenia/complications ; Mutation
    Language English
    Publishing date 2022-09-21
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1231152-2
    ISSN 1536-3678 ; 1077-4114 ; 0192-8562
    ISSN (online) 1536-3678
    ISSN 1077-4114 ; 0192-8562
    DOI 10.1097/MPH.0000000000002552
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    Zs.A 1537: Show issues Location:
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  5. Article ; Online: Frequency and risk factors of depression in type 1 diabetes in a developing country.

    Khater, Doaa / Omar, Magdy

    Journal of pediatric endocrinology & metabolism : JPEM

    2017  Volume 30, Issue 9, Page(s) 917–922

    Abstract: Background: Living with type 1 diabetes, especially in developing countries, can feel overwhelming for parents and children because constant vigilance is required for proper care with an inadequacy of resources. Our aim was to investigate the frequency ... ...

    Abstract Background: Living with type 1 diabetes, especially in developing countries, can feel overwhelming for parents and children because constant vigilance is required for proper care with an inadequacy of resources. Our aim was to investigate the frequency and risk factors of depressive symptoms in children and adolescents with type 1 diabetes.
    Methods: The study was conducted using epidemiologic studies Depression Scale Questionnaire for Children (CES-DC) on 86 patients with type 1 diabetes from the Diabetes Clinic in Alexandria University Children's Hospital, Egypt. Logistic regression models were used to detect the predictors of depression.
    Results: In the current study 45 children (52.3%) had scores ≥15 indicating a depressive state. Children who had depression were found to have a significantly longer duration of diabetes (5.84±2.53 year), a higher mean total daily insulin dose (1.36±0.45 unit/kg), HbA1c level (9.84±1.75) and were less frequently treated with a basal bolus insulin regimen (35.56%); p≤0.001. A multivariate logistic regression model showed that HbA1c is the only significant predictor for depression (p<0.001). HbA1c at a cutoff point of 8.6 could predict depression in type 1 diabetic children with specificity of 71.8%, sensitivity of 78.6%, (area under the curve [AUC]=0.8) and p-value ≤0.001.
    Conclusions: Children and adolescents with type 1 diabetes have high frequency of depressive symptoms in a developing country. Poor glycemic control is the most significant predictor for depression in these patients.
    Language English
    Publishing date 2017-08-28
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1231070-0
    ISSN 2191-0251 ; 0334-018X
    ISSN (online) 2191-0251
    ISSN 0334-018X
    DOI 10.1515/jpem-2016-0414
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    Zs.A 2258: Show issues Location:
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  6. Article ; Online: Effect of Hydroxyurea Therapy on Growth Parameters in Older Children (6-15 Year-Old) with Sickle Cell Disease: Low Dose Versus High Dose.

    Khater, Doaa / Al-Mulaabed, Sharef / Alomairi, Anwar / Elshinawy, Mohamed / Soliman, Ashraf / Elshinawy, Noor / Wali, Yasser / Al Yaarubi, Saif

    Hemoglobin

    2023  Volume 47, Issue 4, Page(s) 157–162

    Abstract: Growth impairment is a known complication of sickle cell disease (SCD). Few studies explored the potential effects of hydroxyurea (HU) on growth in children with SCD in relation to HU dose and response. This is a prospective study conducted at Sultan ... ...

    Abstract Growth impairment is a known complication of sickle cell disease (SCD). Few studies explored the potential effects of hydroxyurea (HU) on growth in children with SCD in relation to HU dose and response. This is a prospective study conducted at Sultan Qaboos University Hospital, Oman, and included 91 SCD patients with age below 16 years when started on HU, aiming to explore the potential effect/s of HU on growth parameters of older children with SCD in relation to their clinical improvement and the dose required for this improvement. Weight, height, and body mass index (BMI) were collected at baseline, 6 and 18 months after initiation. Anthropometric data were compared to WHO standards. Initial height and BMI Z scores (HAZ and WAZ) were lower compared to WHO norms. HAZ and WAZ did not change significantly after 6 and 18 months on HU therapy. However, BMI Z-scores improved significantly after 6 and 18 months of follow-up (p value 0.044 and 0.028 respectively). No significant changes were observed in WAZ or HAZ among patients on low dose versus those on high dose. BMI Z score improved significantly after 18 months of low dose group (p = 0.014) but did not change in those on high dose HU. In conclusion, HU therapy did not adversely affect weight and height growth in older children with SCD. BMI Z scores improved at 18 months in patients on low dose but not in those on high dose (p = 0.014).
    MeSH term(s) Humans ; Child ; Adolescent ; Hydroxyurea/adverse effects ; Antisickling Agents/adverse effects ; Prospective Studies ; Anemia, Sickle Cell/complications ; Anemia, Sickle Cell/drug therapy ; Oman
    Chemical Substances Hydroxyurea (X6Q56QN5QC) ; Antisickling Agents
    Language English
    Publishing date 2023-09-10
    Publishing country England
    Document type Journal Article
    ZDB-ID 750615-6
    ISSN 1532-432X ; 0363-0269
    ISSN (online) 1532-432X
    ISSN 0363-0269
    DOI 10.1080/03630269.2023.2254238
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  7. Article ; Online: Congenital adrenal hyperplasia: Does repair after two years of age have a worse outcome?

    Elsayed, Shaymaa / Badawy, Haytham / Khater, Doaa / Abdelfattah, Magdy / Omar, Magdy

    Journal of pediatric urology

    2020  Volume 16, Issue 4, Page(s) 424.e1–424.e6

    Abstract: Introduction: Congenital Adrenal Hyperplasia (CAH) is the commonest cause of disorders of sex development (DSD) in children. The timing of surgery, early versus late, is a subject of current debate. We hypothesize that surgery for congenital adrenal ... ...

    Abstract Introduction: Congenital Adrenal Hyperplasia (CAH) is the commonest cause of disorders of sex development (DSD) in children. The timing of surgery, early versus late, is a subject of current debate. We hypothesize that surgery for congenital adrenal hyperplasia after age two results in a worse outcome than procedures performed earlier in the neonatal period."
    Patients and methods: Retrospectively evaluated children underwent feminizing genitoplasty the period from 2003 to 2015. Sixty-one children included in the study. They were divided into two groups; Group I: those repaired before 2 years of age (early repair), Group II: those repaired after 2 years of age (late repair). We compare both groups as regards the timing, stages of the genitoplasty, genital anatomical assessment, overall cosmetic results and further treatment recommendations.
    Results: Group I: included 35 children with mean age at presentation 1.73 ± 2.27months (3 days-10.0 months) group II: included 26 children with mean age at presentation 18.78 ± 32.25 months (3 days-150.0 months). 88.5% of children were operated in single stage. Overall cosmetic outcome is good in 94.3% in group I versus 19.2% in group II (p < .001), satisfactory in 5.7% in group I versus 53.8% in group II (p < .001), poor in 0% of group I versus 26.9% in group II (p = .002). 94.3% of children in group I needed no further surgeries versus 26.9% of group II (p < .001).
    Discussion: a current unsolved debate is when to perform the feminizing genitoplasty in children with congenital adrenal hyperplasia (CAH), some are pushing to wait till puberty and others are advocating early reconstruction. To take this debate a further forward, we studied retrospectively our operated children and stratified them according to age into below 2 years and after 2 years of age and we found that earlier (before 2 years of age) is better then late (above 2 years of age) repair.
    Conclusions: Better anatomical findings were significantly observed in patients with early surgical intervention (before the age of 2 years).
    MeSH term(s) Adrenal Hyperplasia, Congenital/surgery ; Child ; Child, Preschool ; Humans ; Infant, Newborn ; Puberty ; Retrospective Studies ; Sexual Development
    Language English
    Publishing date 2020-06-20
    Publishing country England
    Document type Journal Article
    ZDB-ID 2237683-5
    ISSN 1873-4898 ; 1477-5131
    ISSN (online) 1873-4898
    ISSN 1477-5131
    DOI 10.1016/j.jpurol.2020.06.010
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    Zs.A 6387: Show issues Location:
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  8. Article ; Online: Age of Transition Readiness of Adolescents and Young Adults With Chronic Diseases in Oman: Need an Urgent Revisit.

    Abdwani, Reem / Al Saadoon, Muna / Jaju, Sanjay / Elshinawy, Mohamed / Almaimani, Asmaa / Wali, Yasser / Khater, Doaa

    Journal of pediatric hematology/oncology

    2022  Volume 44, Issue 4, Page(s) e826–e832

    Abstract: Background: The Ministry of Health in Oman and some of Gulf regions set the cut-off age of "transfer" from child health care to adult health care at 13 years of age. Within the existing health system in this part of the world, there is paucity of ... ...

    Abstract Background: The Ministry of Health in Oman and some of Gulf regions set the cut-off age of "transfer" from child health care to adult health care at 13 years of age. Within the existing health system in this part of the world, there is paucity of evidence on the appropriate age for health care "transfer" of adolescents and young adults to adult health care. Similarly, there is lack of a structured health care "transition" program. The objective of the study is to indirectly determine the appropriateness of present cut-off age of transfer by studying readiness for transition among Omani patients suffering from chronic hematological conditions.
    Methods: One hundred fifty adolescents and young adults with chronic hematological conditions were recruited from pediatric and adults clinics at Sultan Qaboos University Hospital. Participants were interviewed by a trained research assistant using the Arabic version of UNC TRxANSITION Scale to assess self-management skills and health related knowledge for transition. The score range is 0 to 10; the transition readiness of the patients is assessed as low (0 to 4), moderate (4 to 6), and high (6 to 10) respectively. The continuous variables were analyzed by parametric or nonparametric methods as appropriate. χ2 analysis was done to determine association of age groups within each sexes.
    Results: The study recruited 150 subjects (52.7% males) with 50 patients in each of the 3 age groups of 10 to 13 years (lower), 14 to 17 years (middle), and 18 to 21years (higher). The mean UNC TRxANSITION Scale scores of 5.14 (SD=1.27) in males in the total sample were significantly lower as compared with that of 5.67 (SD=1.50) in females (P=0.022). There is a steady increase in the overall median score with increase in age group, with median score of 4.42 in the lower, 5.26 in the middle and 6.81 in the higher age group (P<0.001). In section wise analysis, except for Adherence and Nutrition sections of the scale, all sections have statistically significant difference in the median scores across various age categories with lowest scores in the 10 to 13 age group and highest scores in the 18 to 21 years group. In the section related to reproduction, females had significantly higher mean ranks (31.52) and compared with 17.19 in males (P=0.001). The overall median transition score when analyzed separately for males and females across age groups showed that in the higher age group, 67% of males (P=0.008) and 90% females (P<0.001) have high transition scores compared with the other 2 groups.
    Conclusions: Higher age was a significant predictor for transition readiness with median score being "moderate" in the lower and middle age groups, while the higher age groups scoring "high" on transition readiness. However, in the higher age group, the females (90%) showed better transition readiness than males (67%). The current age of transfer of 13 years is just at "moderate" levels. We recommend the need for establishing transition preparation program in Oman; increasing health transfer age in Oman to a cut-off age of 18 years and taking sex differences into consideration when providing interventions.
    MeSH term(s) Adolescent ; Adult ; Child ; Chronic Disease ; Delivery of Health Care ; Female ; Humans ; Male ; Oman/epidemiology ; Patient Transfer ; Surveys and Questionnaires ; Transition to Adult Care ; Young Adult
    Language English
    Publishing date 2022-01-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1231152-2
    ISSN 1536-3678 ; 1077-4114 ; 0192-8562
    ISSN (online) 1536-3678
    ISSN 1077-4114 ; 0192-8562
    DOI 10.1097/MPH.0000000000002389
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  9. Article ; Online: Sepsis-related anemia in a pediatric intensive care unit: transfusion-associated outcomes.

    Elshinawy, Mohamed / Kamal, Maha / Nazir, Hanan / Khater, Doaa / Hassan, Radwa / Elkinany, Hassan / Wali, Yasser

    Transfusion

    2020  Volume 60 Suppl 1, Page(s) S4–S9

    Abstract: 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 ...

    Abstract 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.
    MeSH term(s) Child ; Child, Preschool ; Erythrocyte Transfusion/adverse effects ; Erythrocyte Transfusion/methods ; Hemoglobins/analysis ; Humans ; Intensive Care Units, Pediatric ; Length of Stay ; Multiple Organ Failure/etiology ; Oxygen Consumption ; Prospective Studies ; Sepsis/diagnosis ; Sepsis/etiology ; Treatment Outcome
    Chemical Substances Hemoglobins
    Language English
    Publishing date 2020-03-05
    Publishing country United States
    Document type Journal Article ; Randomized Controlled Trial
    ZDB-ID 208417-x
    ISSN 1537-2995 ; 0041-1132
    ISSN (online) 1537-2995
    ISSN 0041-1132
    DOI 10.1111/trf.15688
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  10. Article ; Online: Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association.

    Al-Yaarubi, Saif / Al-Abri, Al-Shaima / Al-Kindi, Hussein / Al-Abri, Mohamed / Naz, Tabinda / Khater, Doaa

    Sleep & breathing = Schlaf & Atmung

    2021  Volume 26, Issue 2, Page(s) 815–821

    Abstract: Background: Sanjad Sakati syndrome (SSS) is a rare autosomal recessive genetic disorder caused by mutation in TBCE (tubulin folding cofactor E) gene. Reported cases were almost exclusively of Middle-Eastern and Arabian children of consanguineous parents. ...

    Abstract Background: Sanjad Sakati syndrome (SSS) is a rare autosomal recessive genetic disorder caused by mutation in TBCE (tubulin folding cofactor E) gene. Reported cases were almost exclusively of Middle-Eastern and Arabian children of consanguineous parents. We report the clinical manifestations, outcome, and an observed new association of sleep-disordered breathing (SDB) among children with Sanjad Sakati syndrome.
    Methods: Clinical and routine laboratory data of SSS cases attending Sultan Qaboos University Hospital, Oman, were collected from the electronic patient records or through direct clinic interviews. In-lab polysomnography (PSG) and echocardiography were carried out for all the cases. SDB diagnosis was based on the guidelines of the American Academy of Sleep Medicine.
    Results: Of 12 patients with SSS, 5 males (42%), all of them (100%) had obstructive sleep apnea (OSA) and 4 of them (33%) had additional significant central apnea and sleep-related hypoventilation. Eight patients (67%) had severe SDB with mean apnea-hypopnea index (AHI) of 26.5 events/h. Age at time of diagnosis with SDB ranged from 2 to 17 years with mean of 8.9 [Formula: see text] Two patients had severe pulmonary hypertension as a complication of severe SDB and died from type 2 respiratory failure.
    Conclusions: Sleep-disordered breathing is prevalent among children with SSS, especially OSA. This is the first study to report SDB in a large cohort of patients with this extremely rare syndrome. The study results encourage the importance of screening affected patients with SSS for sleep-disordered breathing early before developing severe morbidities such as pulmonary hypertension that further compromise their quality of life.
    MeSH term(s) Abnormalities, Multiple ; Acrocephalosyndactylia ; Adolescent ; Child ; Child, Preschool ; Female ; Growth Disorders ; Humans ; Hypertension, Pulmonary/complications ; Hypoparathyroidism ; Intellectual Disability ; Male ; Osteochondrodysplasias ; Quality of Life ; Seizures ; Sleep Apnea Syndromes/diagnosis ; Sleep Apnea, Obstructive/diagnosis
    Language English
    Publishing date 2021-08-09
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1500381-4
    ISSN 1522-1709 ; 1520-9512
    ISSN (online) 1522-1709
    ISSN 1520-9512
    DOI 10.1007/s11325-021-02463-4
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